General Health Care Resource Page


Table of Contents
Links to the Media
Links to the World
Reliable Links
Recently Published Health Care Sites
Established Health Care Links
Gastrointestinal Organizations Offering Patient Information
Online-Line Clinical Consulting Services
Researching a Health Care Provider
Researching a Health Care Lawyer 
Gastroenterology and Gastrointestinal Research 
Online Professional Organizations in Digestive Diseases
Digestive Disease Foundations
Online Academic Gastroenterology and Hepatology Programs
Government Health Care Sites
Medical Encyclopedia
Sites of Specific Areas of Interest to the Gastroenterologist and Hepatologist
Digestive Diseases and Other Related Online Journals
Digestive Diseases Related Listserves
Gastrointestinal, Liver & Other Genetic Disorders
Liver Cancer Websites
Help for Jewish genetic diseases
Clinical Guidelines and Standard of Care 
Clinical Guidelines and Standard of Care; Gastrointestinal Organization Position Statements:
    1. Digestive Disease Topics
    2. Clinical Trials
    3. Cancer of the Pancreas
Clinical Guidelines and Standard of Care For Hepatitis
Clinical Guidelines and Standard of Care For Colo-Rectal Cancer Screening
Clinical Guidelines and Standard of Care For Prostate Cancer and Calculator
Clinical Guidelines and Standard of Care For Cardiac By-Pass Surgery
Comparing Hospitals in the USA
Medical Quality Assurance
Travel Medicine
50 SITES ON WHAT YOU SHOULD KNOW ABOUT THE NEW HEALTH INSURANCE DEBATE

Links to the Media

Blogroll

Analysis, Features and Documentaries

Blogs

News Sites

News Video

Links to the World

Not Just Websites
 
 

 

Presents
BEST OF THE WEB

 

 
 
SEARCH ENGINES
 
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COMPUTER PROTECTION
Defenses Spam Stalkers Trojans Viruses Worms Websites
COMPUTER SOFTWARE
AVG Ad-aware AVG SpyBot SD WinZip Zone Alarm Download.com
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TRAVEL
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COOL STUFF
NASA Hubble Space Pix Wright Bros Cousteau Free Stuff WOW - AMESOME - INCREDIBLE - These just don't begin to describe how cool these pages on the FBI's website are. This is the real FBI X-files site. These are real documents, newspaper articles, letters etc from the Roswell (Area 51) UFO crash site, investigations into mutilated cattles and black helicopters, Project Blue Book and more that were released to the public as part of the Freedom of Information Act." target="_blank" style="text-decoration: none" href="http://foia.fbi.gov/unusual.htm"> X-Files
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HEALTH CARE LINKS

Recently Published Health Care Sites

First a Warning- Caveat Emptor
Untangling the Web — Patients, Doctors, and the Internet

Medicine has built on a long history of innovation, from the stethoscope and roentgenogram to magnetic resonance imaging and robotics. Doctors have embraced each new technology to advance patient care. But nothing has changed clinical practice more fundamentally than one recent innovation: the Internet. Its profound effects derive from the fact that while previous technologies have been fully under doctors' control, the Internet is equally in the hands of patients. Such access is redefining the roles of physician and patient.

Information traditionally flowed from doctor to patient; the physician described the genesis and course of a disease and the options available for treating it. Often, pamphlets were provided to reinforce the doctor's explanation and advice. The patient might then receive additional input from family and friends, usually in the form of anecdotes about people who faced similar clinical situations.

The Internet has upended that scenario. The Web offers virtually unlimited amounts of information. Everyone can now visit many of the sites that inform and educate doctors. Popular search engines such as Google and Yahoo provide portals to primary data published in scholarly journals as well as critical analyses of these studies, slide presentations from grand rounds, videos of surgical procedures, and guidelines from professional societies. The voices that patients hear have multiplied wildly as chat rooms and blogs filled with testimonials have proliferated. Patients frequently encounter conflicting advice and opinions.

To be sure, exposure to a range of views can be helpful. "Thank God for the Internet," a friend remarked after receiving a diagnosis of prostate cancer. He had been given the biopsy results by a urologist, who had offered to schedule a prostatectomy within 10 days. Concerned about incontinence and impotence, our friend searched the Web for outcome data on other treatment options. He made appointments with a radiation therapist, who advised him on the risks and benefits of treatment using implanted seeds as opposed to external-beam radiation, and a medical oncologist, who discussed the pros and cons of "watchful waiting." "I'm still thinking about it," our friend said. "And I'm reading more on the Internet."

But many patients have not fared so well. One woman with recently diagnosed lupus told us, "I really don't want to read what's on the Internet, but I can't help myself." Her condition is currently stable, but she finds herself focusing on the worst possible complications of the disease, such as cerebral vasculitis. Although her doctor gave her detailed information, she cannot resist going on the Web to seek out new data and patients' stories. "It's hard to make out what all of this means for my case," she said. "Half the time, I just end up scaring myself."

Other patients whose diseases have no ready cure are drawn to chat rooms and Web sites that may make unsubstantiated claims — assertions that macrobiotic diets cure aggressive lymphoma, that AIDS can be treated with hyperbaric oxygen, that milk thistle remedies chronic hepatitis, and myriad other fallacious claims. Falsehoods are easily and rapidly propagated on the Internet: once you land on a site that asserts a false rumor as truth, hyperlinks direct you to further sites that reinforce the falsehood.1 Material is perceived as factual merely because it is on a computer screen. We sometimes find ourselves in the uncomfortable position of trying to dissuade desperate and vulnerable patients from believing false testimonials. Doctors may be perceived as closed-minded, dismissive, or ignorant of "novel therapies" when they challenge such Internet rumors.

Patients also consult the Internet in search of self-diagnosis. Sometimes, doing so leads them to seek medical attention rapidly and to suggest what turns out to be a correct diagnosis. But the Web is perilous for anyone prone to hypochondria. The differential diagnosis for backache, for example, led one of our neighbors to fret that he had an abdominal aortic aneurysm. After a week of self-palpation, he mustered the courage to call his doctor. With a normal exam and repeated reassurance, the backache resolved.

Hospitals may inadvertently contribute to such Web-inspired worry. Many medical centers have secure Web portals that allow patients to view their laboratory, radiology, and pathology results remotely. This technology is efficient, averts the need for multiple phone calls and the mailing of information, and is welcomed by many patients. The benefits, though, must be weighed against the potential negative effects of receiving clinical data without context. Patients and families may be confused by results and worried that minor abnormalities might portend serious consequences. One man saw a report in which his neutrophil count of 78% was highlighted in red; the upper limit of normal was 70%. He took this fluctuation as an indication of possible leukemia and passed a sleepless night before he could contact his physician and learn that the increase was not significant.

In addition to information about their conditions, patients increasingly seek information about their doctors online. Yet search results for doctors vary depending on how the name is entered: "Dr." followed by a name gives a plethora of rating sites, whereas a search for the same name with "M.D." at the end yields scholarly publications as well. Such variation can skew the decision of a patient trying to choose a physician to consult. Furthermore, the information obtained in Web searches of physicians is not always accurate (e.g., one of us was listed on one site as a podiatrist rather than an endocrinologist).

As physicians, we, too, use the Internet daily. Doctors now routinely consult the Web in search of diagnoses. In 2006, two Australian specialists tested the diagnostic accuracy of Google searches by entering symptoms and signs from 26 published case records.2 The search revealed the correct diagnosis in 15 cases. Internet searching was more effective for conditions with unique symptoms and signs; complex diseases with nonspecific symptoms or common maladies with rare presentations were less likely to be diagnosed this way. The specialists partially attributed their high success rate to their expert knowledge, which enabled them to choose the correct diagnosis when presented with a list of possibilities.

The Internet also provides physicians with immediate access to current information, including primary source data. Journal articles can be obtained within seconds, and experts' evidence-based analyses are readily available on the sites of professional societies and in compendiums such as UpToDate and Zynx. Like many physicians, we have been asked by patients about novel therapies of which we were unaware and have resorted to searching the Internet for details. Primary care physicians now have easy access to many guidelines whose reach was previously limited to specialists; such access may ultimately blur the line between generalists and specialists and could reduce the volume of referrals to some types of specialists.

Beyond providing broader, speedier access to information, the Web is profoundly changing communication between doctor and patient. Many patients feel free to e-mail not only their own doctors but also specialists around the world. Many doctors also take the initiative and inform their patients of test results by e-mail — an efficient practice that will probably be favored under health care reform. But exchanging e-mail with patients can become time-consuming and burdensome, and there is generally no reimbursement for it. Moreover, sending e-mail is quite different from speaking with a patient face to face, and doctors must consider carefully what they say and how they say it. It's impossible to judge the effect on patients of information transmitted through cyberspace: we can't observe grimaces, tears, or looks of uncertainty. And written dialogue is quite different from spoken conversation: replies may be delayed, phrases may be more stilted, tone of voice is absent. We should pay close attention to any unintentional fraying of the physician–patient bond.

As physicians, we are struggling to figure out how best to use this technology in the interests of our patients and ourselves. Although the Internet is reshaping the content of the conversation between doctor and patient, we believe the core relationship should not change. A relative recently asked us, "What can you possibly learn from your doctor that is not available on the Internet?" We suspect we'll hear such radical sentiments increasingly in the future. Knowledge is said to be power, and some of the past imbalance of power between patient and doctor may be equalized. But information and knowledge do not equal wisdom, and it is too easy for nonexperts to take at face value statements made confidently by voices of authority. Physicians are in the best position to weigh information and advise patients, drawing on their understanding of available evidence as well as their training and experience. If anything, the wealth of information on the Internet will make such expertise and experience more essential. The doctor, in our view, will never be optional.

References

  1. Sunstein CR. On rumor: how falsehoods spread, why we believe them, what can be done. New York: Farrar, Straus & Giroux, 2009. 
Tang H, Ng JHK. Googling for a diagnosis -- use of Google as a diagnostic aid: Internet based study. BMJ 2006;333:1143-1145.

 

The 20  Most Popular Health and Medical information Websites

1) WebMD.com – WebMD provides valuable health information, tools for managing your health, and support to those who seek information. You can trust that our content is timely and credible. It is a source for original and timely health information as well as material from well known content providers. The WebMD content staff blends award-winning expertise in journalism, content creation, community services, expert commentary, and medical review to give our users a variety of ways to find what they are looking for.

2)  Yahoo! Health

3) MedicineNet.com - MedicineNet.com is an online, healthcare media publishing company. It provides easy-to-read, in-depth, authoritative medical information for consumers via its robust, user-friendly, interactive web site. Since 1996, MedicineNet.com has had a highly accomplished, uniquely experienced team of qualified Webster’s New World Medical Dictionary – authored by MedicineNetexecutives in the fields of medicine, healthcare, Internet technology, and business to bring you the most comprehensive, sought after healthcare information anywhere. Nationally recognized, Doctor-Produced by a network of over 70 U.S. Board Certified Physicians, MedicineNet.com is the trusted source for online health and medical information.

4) MayoClinic.com – The Web site offers more ways to get information — search by symptom, procedure, disease or condition, with convenient tabs on every page for quick links to comprehensive resources about specific health conditions. Backed by the expertise of Mayo Clinic, MayoClinic.com provides the peace of mind that results from knowing its medical information comes from some of the world’s leading experts. Users can sign up for a free weekly e-newsletter, “Housecall,” which includes the latest health information from Mayo Clinic.

5) National Institutes of Health (NIH) - The National Institutes of Health (NIH), a part of the U.S. Department of Health and Human Services, is the primary Federal agency for conducting and supporting medical research.

Helping to lead the way toward important medical discoveries that improve people’s health and save lives, NIH scientists investigate ways to prevent disease as well as the causes, treatments, and even cures for common and rare diseases.

6) Medhelp.org – MedHelp is the pioneer in online health communities. MedHelp empowers over 8 million people each month to take control over their health and find answers to their medical questions. MedHelp, a privately-funded company, has over 15 years of accumulated information from doctors and other patients across hundreds of conditions.

7) Realage.com- RealAge name has been developed by our team of experts, which includes physicians, epidemiologists, and medical writers who research the latest findings published in peer-reviewed medical and science journals. All RealAge content is held up to stringent scientific review. Please meet our scientific advisory board of renowned doctors.

8) RxList.com – RxList is an online medical resource dedicated to offering detailed and current pharmaceutical information on brand and generic drugs. Founded by pharmacists in 1995, RxList is the premier Internet Drug Index resource. Our knowledgeable staff at RxList continuously reviews and updates the site with articles written by pharmacists and physicians and data provided by credible and reliable sources like the FDA and First Data Bank, Inc. to ensure the most accurate and beneficial information is provided.

9) Righthealth.com - you can find about any topic concerning healthy human standards of living as an example of wellness and care of your organism. It also provides information about diseases, different types of therapies, typical symptoms  belonging to each type of harms, diets  to follow, and much more.

10) Drugs.com -Drugs.com is the most popular, comprehensive and up-to-date source of drug information online. Providing free, peer-reviewed, accurate and independent advice on more than 24,000 prescription drugs, over-the-counter medicines & natural products.

11) Healthcentral.com - HealthCentral empowers millions of people to improve and take control of their health and well-being.

12) Prevention.com

13) Revolutionhealth.com -Revolution Health is a leading consumer-centric health company founded to transform how people approach their overall health and wellness. By putting individuals at the center of their own healthcare, Revolution Health allows them to make informed choices and offers more convenience and control over their individual healthcare decisions.

14) Qualityhealth.com

15) Familydoctor.org - is operated by the American Academy of Family Physicians (AAFP), a national medical organizations representing more than 93,700 family physicians, family practice residents and medical students. All of the information on this site has been written and reviewed by physicians and patient education professionals at the AAFP. Visit the AAFP Web site to learn more about the AAFP.

16) Wellsphere.com - Wellsphere’s mission is to help millions of people live healthier, happier lives by connecting them with the knowledge, people and tools they need to manage and improve their health.

17) Healthgrades.com -HealthGrades (HGRD, News, Press Releases: 6.15 -0.21 -3.30%, yield: N/A, cap: 171.1M, 1yr target: 8.00) is the leading healthcare ratings organization, providing ratings and profiles of hospitals, nursing homes and physicians to consumers, corporations, health plans and hospitals. Millions of consumers and hundreds of the nation’s largest employers, health plans and hospitals rely on HealthGrades’ independent ratings, consulting and products to make healthcare decisions based on the quality of care.

18) WrongDiagnosis.com provides a free health-information service to help people understand their health better, offering crucial and factual health information that is otherwise difficult to find. The objective of the site is to encourage consumers to be informed and interested in managing their health, and to know what questions to ask their doctors to help ensure they are getting the best healthcare possible.

19) everydayhealth.com - EverydayHealth.com is a leading provider of online health information. We’re here to help you manage your own and your family’s conditions and overall well-being through personalized advice, tools, and communities. We’re committed to bringing you the most credible and relevant health information available online, and to giving you the best possible user experience. Our information is easy to understand and incorporate into your life every day. 

20) Healthline.com - Healthline’s medical expertise and technical product portfolio is derived from a consumer healthcare taxonomy that was developed in conjunction with physicians and is maintained today by a team of medical informatics specialists. The taxonomy (or “classification”) consists of a terminology database of over one million medical terms and consumer-friendly synonyms, as well as 250,000 medical concepts that include diseases, conditions, causes, symptoms, diagnoses, treatments and other medically relevant attributes.

From CEOWORLD Magazine - http://ceoworld.biz/ceo/

 

 

 

More Web-based data sources

Visit Dr.Hookmans Blog
http://drperryhookman.blogspot.com/

Title: Medical Care
Description: Recreation, Vehicles & Automotive, Research & Science, Finance & Banking, Companies & Business, Games & Play, Drink & Food, Tour & Travel, Teens & Kids, News & Media, Medical Care, Policies & Law, Health & Therapy, Society & Communities.
URL:
http://www.amazingarticlelist.com

Title: Hospitals
URL:

Title: Yaz Side Effects
Url:

Description: DrugWatch.com provides up-to-date information on the side effects of common prescription and over the counter medications.

ProMED-mail, www.promedmail.org

Global Public Health Intelligence Network (GPHIN)

HealthMap, www.healthmap.org

MediSys, http://medusa.jrc.it

EpiSPIDER, www.epispider.org

Wildlife Disease Information Node

H5N1 Google Earth mashup, www.nature.com/avianflu/google-earth

Avian Influenza Daily Digest and blog, www.aidailydigest.blogspot.com

Google Flu Trends, www.google.org/flutrends

Google Insights for Search, www.google.com/insights/search

DiSTRIBuTE, www.syndromic.org/projects/DiSTRIBuTE.htm

GeoSentinel, www.istm.org/geosentinel/main.html

Emerging Infections Network, http://ein.idsociety.org

Argus, http://biodefense.georgetown.edu

Sample health-related social-networking sites

Physicians, www.sermo.com

Patients, www.patientslikeme.com

Everyone, www.healthysocial.org

 

At least three-quarters of all Internet users look for health information online, according to the Pew Internet and American Life Project; of those with a high-speed connection, 1 in 9 do health research on a typical day. And 75 percent of online patients with a chronic problem told the researchers that “their last health search affected a decision about how to treat an illness or condition,” according to a Pew Report released in August 2008- “The Engaged E-Patient Population.” Reliance on the Internet is so prevalent, said the report’s author,  that “Google is the de facto second opinion” for patients seeking further information after a diagnosis. In a 2008 study, a report in the journal Cancer looked at 343 Web pages about breast cancer that came up in online searches. The researchers found 41 inaccurate statements on 18 sites — an error rate of 5.2 percent. Sites promoting alternative medicine were 15 times as likely to offer false or misleading health information as those sites that promoted conventional medicine.

Google, however, can lead patients to miss a rich lode of online resources that may not yield to a simple search. Sometimes just adding a word makes all the difference. Searching for the name of a certain cancer will bring up the Wikipedia entry and several information sites from major hospitals, drug companies and other providers. Add the word “community” to that search, Ms. Fox said, and “it’s like falling into an alternate universe,” filled with sites that connect patients. Benjamin Heywood, the president of PatientsLikeMe.com , a site that allows patients to track and document their conditions and compare notes with other patients, says that with a growing online population, it becomes possible to research highly specific conditions — say, being a 50-year-old with multiple sclerosis who has leg spasms and is taking a certain combination of drugs.

Medical sites can be grouped into five broad, often overlapping, categories:

GENERAL INTEREST Sites like WebMD (webmd.com), Discovery Health (health.discovery.com) and The New York Times (nytimes.com/health) provide information about disease, news and lifestyle advice, as do medical institutions like the Mayo Clinic (mayoclinic.com).

MEDICAL RESEARCH SITES offer access to the published work of scientists, studies and a window into continuing research. Examples include PubMed (http://www.ncbi.nlm.nih.gov/PubMed) from the National Library of Medicine; clinicaltrials.gov, which tracks federally financed studies; psycinfo (apa.org/psycinfo), with its trove of psychological literature; and the National Center for Complementary and Alternative Medicine (nccam.nih.gov), the government’s registry on alternative medicine research.

PATIENT SITES for groups and individuals are booming — so much so that they are increasingly used by researchers to find patients for studies. These include the Association of Cancer Online Resources (acor.org) and e-patients (e-patients.net), as well as Patients Like Me and Trusera  which provide a bit of Facebook-style social connectivity for patients, along with the ability to share their stories in clinical, data-laden detail.

DISEASE-SPECIFIC SITES focus on a particular condition and are often sponsored by major organizations like the American Heart Association (americanheart.org), the American Cancer Society (cancer.org) and the American Diabetes Association (diabetes.org). But smaller groups can put together extensive resources as well, with sites like breastcancer.org and Diabetes Mine (diabetesmine.com), which calls itself the “all things diabetes blog.”

WEB TOOLS These sites help people manage their conditions — for example, sugarstats.com for diabetes, Destination Rx (drx.com) for comparing drug prices, and YourDiseaseRisk.com, a service of the Washington University school of medicine that helps patients determine their risk for various problems.

Visits to health and medical Web sites have surged. Tara Parker-Pope in her WSJ Health Journal, [WSJ.July 6,
2004; Page D1] and follow-up in her columns reveals her Guide to Some BestHealth Sites.
 “In Search of a Good Doctor” by Dr.Pauline W. Chen,[ adapted from the 1/9/09 NYT] contacted several nationally respected leaders in family medicine, pediatrics, internal medicine, oncology, surgery and anesthesia and asked them to share their advice on researching doctors and diseases. This is a summary of these experts’ advice and the Web sites they use themselves and recommend to patients, friends and family. A Caveat: The Web can be a good place but also a dangerous place. One doctor said, It’s important to find sites that aren’t biased and that provide evidence-based information.” Many of the doctors suggested going to sites supported by patient advocacy groups or nonprofit groups that are focused on certain diseases. Such sites often offer not only information but also active online communities. Some of the very important sites are duplicated in other sections. Recommended Web Sites: The following is a compilation of recommendations from the physicians mentioned in this column. It is by no means exhaustive but should provide a starting point for those interested in researching their doctors or conditions. Foundation for Informed Medical Decision Making: This site (www.informedmedicaldecisions.org), endorsed by the Society of General Internal Medicine, offers information and tips on how patients can become more actively involved in the medical decision-making process and get the care that is right for them. Researching on the Web: Medical Library Association: The Medical Library Association has compiled a guide (www.mlanet.org/resources/userguide.html) to help individuals sort through the myriad offerings on the Web. Researching Physicians and Hospitals: 1. State boards of medicine: State medical boards can provide information regarding a doctor’s licensure, training and history of disciplinary action.• To locate state boards, the American Medical Association provides a listing. (www.ama-assn.org/ama/pub/category/2645.html) 2. The American Board of Medical Specialties: The A.B.M.S. has a doctor-finder function that will pull up a physician’s board certification. 3. The Agency for Healthcare Research and Quality : The A.H.R.Q. has compiled health care “report cards” that provide comparative information on the quality of health plans, hospitals, medical groups, individual physicians, nursing homes and other providers of care. 4. The United States Department of Health and Human Services, Hospital Compare (www.hospitalcompare.hhs.gov): This site provides information from participating hospitals on how well those hospitals care for patients with certain medical conditions or surgical procedures. Also included are the results from patient surveys on quality of care during hospital stays. This site from the Department of Health and Human Services called Hospital Compare (www.hospitalcompare.hhs.gov) also allows you to select three hospitals within a 25-mile radius of your home. It also lets you compare a wide variety of quality indicators, like the percentage of heart failure patients who were given discharge instructions, the percentage of surgery patients given prophylactic antibiotics at the right time, or the percentage of hospitalized patients who felt that doctors or nurses “always” communicated well.
Researching a Disease, Condition or Procedure: 1. National professional medical societies: Below is a sampling of some of the larger national societies. Many societies have sites specifically designed for patients.• American Academy of Pediatrics (www.aap.org)• American Society of Anesthesiologists (www.asahq.org)• American College of Physicians (www.acponline.org)• Society of General Internal Medicine (www.sgim.org)• American Academy of Family Physicians (www.aafp.org)• American College of Surgeons (www.facs.org)• American College of Obstetricians and Gynecologists (www.acog.org)2. Medline Plus: Supported by both the National Library of Medicine and the National Institutes of Health, Medline Plus (www.medlineplus.gov) offers patients an array of information on health topics, drugs and current news. In addition, there are interactive tutorials, surgery videos, health information for older adults and links to clinical trials and health information for older adults.3. Centers for Disease Control and Prevention: The C.D.C. (www.cdc.gov) is an excellent patient resource for communicable diseases and preventive and public health.4. The American College of Physicians Foundation: In conjunction with the American College of Physicians, the ACP Foundation offers succinct and clear health information for patients.5. My HealtheVet: Veterans, their advocates and employees of the Veterans Health Administration have access to extensive quality information and patient education resources through this site (www.myhealth.va.gov), from the Department of Veterans Affairs.
6.There are the Web sites that can serve as excellent starting points for cancer patients:
• The National Cancer Institute (www.cancer.gov)
•The American Cancer Society (www.cancer.org)
• The American Society of Clinical Oncology (www.cancer.net)

7. ADDITIONAL CANCER SITES

CERVICAL CANCER LINKS

 

  • Human Papillomavirus (Infectious Diseases)
  • Warts, Genital (Emergency Medicine)
  • Papillomavirus (Infectious Diseases)

 

  • HPV and Cervical Cancer Resource Center
  • CDC Issues Annual Report on Sexually Transmitted Diseases
  • Debate Continues Over Blood Donation From Men Who Have Sex With Men

Articles

  • Cryotherapy for Anogenital Warts: Factors Affecting Therapeutic Response
  • Human Papillomavirus Disease and Vaccines
Infectious Syphilis: The Return of an Epidemic



ACOG's Webtreat (quick guides to Internet resources) on cancer
http://www.acog.org/departments/dept_notice.cfm?recno=20&bulletin=1522

The University of Michigan's Comprehensive Cancer Center
http://www.cancer.med.umich.edu/support/information_guides.shtml


MGH's Cancer Resource Room
http://www2.massgeneral.org/library/default.asp?tm=n&page=cancer

& then click on each category to see more).

Oncolink, http://www.oncolink.com/

MedlinePlus.gov, http://medlineplus.gov can be good for basic questions.

ASCO's CancerNet
http://www.cancer.net/portal/site/patient

http://www.selu.com/cancerlib/recommended_websites.html

CareSearch - an evidence-based guide to palliative care which is geared towards patients, family/carers and professionals.
http://www.caresearch.com.au/

http://www.nccn.org/default.asp
National Comprehensive Cancer Network

http://www.cancer.gov/

American Cancer Society
www.cancer.org

http://health.nih.gov/

The Alternative Medicine Homepage

National Cancer Institute, Office of Cancer Complementary and Alternative Medicine (OCCAM)
http://www.cancer.gov/cam

National Center for Complementary and Alternative Medicine (NCCAM), National Institutes of Health (NIH)
http://nccam.nih.gov

QuackWatch Home Page
http://www.quackwatch.com

8. Breast Cancer
The American Breast Cancer Foundation
http://www.abcf.org

BreastCancer.org
http://www.breastcancer.org

Living Beyond Breast Cancer
http://www.lbbc.org

National Breast Cancer Coalition
http://www.stopbreastcancer.org

The Sister Study: A Study of the Environmental and Genetic Risk Factors for Cancer
http://www.sisterstudy.org/English/index1.htm

Susan G. Komen For the Cure
http://ww5.komen.org/


Young Survival Coalition
http://www.youngsurvival.org


9. Other Cancer Resources for Women

http://www.fertilehope.org

Gynecologic Cancer Foundation
http://www.thegcf.org


National Ovarian Cancer Coalition
http://www.ovarian.org

Society of Gynecologic Oncologists
http://www.sgo.org

Women's Cancer Network
http://www.wcn.org


10. General Cancer Resources

American Cancer Society
http://www.cancer.org

Cancer Care
http://www.cancercare.org

Cancer Control P.L.A.N.E.T.
http://cancercontrolplanet.cancer.gov

Cancer.net
http://www.cancer.net/portal/site/patient

M.D. Anderson Cancer Center
http://www.mdanderson.org

National Cancer Institute
http://www.cancer.gov

National Coalition for Cancer Survivorship (NCCS)
http://www.canceradvocacy.org

National Colorectal Cancer Roundtable
http://www.nccrt.org

National Comprehensive Cancer Network
http://www.nccn.org

National Marrow Donor Program
http://www.marrow.org

Prevent Cancer Foundation
http://www.preventcancer.org

The Wellness Community
http://www.thewellnesscommunity.org


11. Clinical Trials

Cancer Trials Support Unit – a service of the National Cancer Institute
http://www.ctsu.org

ClinicalTrials.gov: Linking Patients to Medical Research
http://clinicaltrials.gov

National Surgical Adjuvant Breast and Bowel Project (NSABP)
http://www.nsabp.pitt.edu

NCI: Clinical Trials
http://www.cancer.gov/clinicaltrials


Superb sites are
http://www.mayoclinic.com/

http://www.medhelp.org/

http://www.patientinform.org

Some other excellent sites are:

www.Medlineplus.gov
This site is sponsored by the National Institutes of Health in Bethesda, Md., and its National Library of Medicine, the world's largest medical library.The best thing about MedlinePlus is where it takes you. The site contains countless links to sites like clinicaltrials.gov, which lists nearly 11,000 government- and privately-funded clinical trials, and PubMed, which health professionals use to search medical journals. Like all health Web sites, it requires some clicking around. The best way to start is to type a topic in the search box, and it will kick up a variety of credible links. The site includes interactive tutorials on 165 topics: Narrated slide shows explain everything from barium enemas to hip-replacement surgery.

www.Acor.org
The Association for Cancer Online Resources. This nonprofit group's site has numerous links to other sites, including information about clinical trials and cancer-related books. But the best services on this site are the 70 online cancer information and support groups, where you can tap into the vast knowledge of other cancer patients and survivors to get answers to your questions.

www.FertilityFriend.com
In addition to Web support groups for people trying to conceive, the site provides useful tools such as ovulation calculators and fertility charts as well as a place to track tests, appointments, menstrual cycles and other issues. The site, which doesn't offer medical advice, was founded by an Ottawa couple looking for a way to keep track of their own fertility issues. It offers a free basic service or more access for $10 a month.

Comparing Hospitals in the USA
http://www.hospitalcompare.hhs.gov/
 

Reliable Links
www.cancer.gov for information about cancer.
www.cdc.gov for information about infectious diseases, travel medicine and epidemiology.
www.fda.gov for information about drugs.
www.medlineplus.gov for information about diseases.
www.usp.org for information about medicine and nutritional supplements.

*Consumers Union of United States Inc.



TRAVEL MEDICINE

How to prepare yourself for the Health Hazards of Travel

The most common health problem for travelers, according to the U.S. Centers 
for Disease Control and Prevention, is gastrointestinal ailments caused by 
contaminated food or water, especially in developing countries in Latin 
America, Africa, the Middle East and Asia. But that's only the beginning. 
There are infectious-disease outbreaks like the SARS epidemic and the 
current wave of avian flu in Asia.
Some sites also dispense advice on emergency procedures in the event of 
natural disasters like the Indian Ocean tsunami, or potential violence 
associated with terrorism and civil unrest.

And the increasingly popular category of adventure travel -- like whitewater 
rafting, scuba diving and mountain biking -- carries its own risks for which 
many people fail to prepare properly: One study of wilderness hikers in 
Yosemite National Park showed that on average groups carried only 48% of the 
recommended categories of first-aid supplies appropriate for their trip 
duration. Although these hikers were generally in good health, injuries and 
illnesses requiring first-aid attention were common, the survey showed.

A number of for-profit companies now arrange travelers' health care and 
emergency aid and advice, including medical evacuations, for both 
corporations and individuals, such as International SOS 
(www.internationalsos.com) and the International Medicine Center 
(www.traveldoc.com).
In the U.S., travelers can find a doctor who will make house calls to a 
hotel or vacation spot via HouseCalls USA (www.hoteldocs.com).

You can also check the Web site of your local university medical center; 
many such as the University of Maryland and the University of Washington now 
have travel clinics that offer advance medical preparation including 
vaccinations, and treat returning travelers for any illnesses picked up in 
transit.
But you don't have to pay to be informed about risks and figure out what 
basic precautions to take. Whether you are heading to an exotic locale on 
the other side of the world or just driving down the highway to the local 
water park, here are some sites with free information to prepare you for a 
healthful journey.

• Department of State
www.travel.state.gov
In addition to safety tips for traveling abroad and a traveler's 
registration page, this site has information on insurance and coverage 
issues for Americans traveling abroad; Medicare, for example, doesn't cover 
hospital or medical costs outside the U.S. It also has a printable list of 
doctors, hospitals and medical clinics with contact information in 39 
countries from Afghanistan to Vietnam.

• World Health Organization / International Travel and Health
www.who.int
Offers guidance on health risks likely to be encountered at specific 
destinations and for business, humanitarian and leisure travel and 
backpacking and adventure tours. It's primarily aimed at medical 
professionals, but consumers can download chapters from the organization's 
latest travel and health publication on a variety of useful topics: 
recommended vaccinations; protection against insects and other disease 
carriers; food safety; preparing for exposure to high altitudes, high heat 
and humidity and strong sun; and dealing with hazards of air travel such as 
cabin-pressure changes and deep-vein blood clots.

• International Society of Travel Medicine
http://www.istm.org
Offers a searchable directory of member physicians with expertise in travel 
medicine, including tropical medicine, infectious diseases, high-altitude 
physiology and travel-related obstetrics; covers more than 500 
travel-medicine clinics in over 40 countries. The group's GeoSentinel 
surveillance network tracks travel-related morbidity and lists current 
advisories, such as a recent report on an outbreak in Brazil of chagas 
disease, a parasitic infection transmitted from the feces of an insect often 
crushed along with sugar cane in the making of the popular garapa drink sold 
at most beaches.

• American College of Emergency Physicians
Patient/consumer section provides seasonal safety and wellness tips, 
including sun safety and fireworks precautions; information on lightning 
injuries; and tips on avoiding infection on cruise ships.

• International Association for Medical Assistance to Travellers
www.iamat.org
Advises travelers about health risks, geographical distribution of diseases 
world-wide and immunization requirements for all countries. Free membership 
(though a donation to the nonprofit group is encouraged) includes a 
directory of participating physicians, clinics and hospitals in 125 
countries that pledge to make available to travelers competent medical care 
by Western-trained, English-speaking doctors.

• Medical College of Wisconsin
www.mcw.edu/travel-medicine
The college's international travel clinic, in Milwaukee, offers pretravel 
health counseling, immunizations and medications. The Web site's travel 
section has information on such topics as scuba diving after a blood clot 
and avoiding waterborne diseases such as diarrhea and skin, ear and 
respiratory infections.

• The Merck Manual
The venerable reference book's travel and health chapter includes 
guidelines on preparing for healthy travel and dealing with problems at the 
destination and in transit. It also has information on travel problems for 
patients with specific conditions such as diabetes and heart disease.

Summary of Hyperlinks for Travel Medicine
http://www.internationalsos.com
http://www.traveldoc.com
http://www.hoteldocs.com
http://www.cdc.gov
http://www.who.int
http://www.istm.org
http://www.iamat.org
www.merck.com/mmhe



INFORMATION TO MY PATIENTS ABOUT [CABG] CARDIAC BYPASS SURGERY
[from 9/9/04 WSJ]
These statistics should be a starting point for patients who need to choose a hospital and surgeons for cardiac bypass[CABG].
Some companies are collecting bypass data based on information from Medicare, which accounts for about 45% of such procedures.
In a pilot project with Premier Inc., a nationwide organization of not-for-profit hospitals, about 280 hospitals will report more detailed information about bypass surgery care, including whether aspirin was prescribed at discharge, whether the surgery was performed using the internal mammary artery (considered more durable than a vein graft), whether doctors followed guidelines in antibiotic administration before and after surgery to prevent infection, and whether there were postsurgical complications such as hemorrhage. Perhaps though, the most important thing is that you have not only a technically competent surgeon in a high volume hospital
but one that you can talk to and who knows how to communicate. 
http://www.healthgrades.com/

Volume and mortality data on nearly 5,000 hospitals that submit data to Medicare 
http://www.myhealthfinder.com/

N.Y. State Hospital Report Card, with a quality indicators section on coronary bypass that provides volume and risk-adjusted mortality rate data by hospital and surgeon  
http://www.phc4.org

 Pennsylvania's Guide to Coronary Artery Bypass Graft Surgery examines the results of more than 22,000 surgeries
 performed in the state in 2000  http://www.sts.org/ 
Society of Thoracic Surgeons patient  information center includes information on the procedure and what to expect after surgery

Established Health Care Links

Adam
This popular consumer health site grew out of series of CD-ROMs for the medical education market. It includes sections on men's, women's and children's health, as well as diet and nutrition, first aid and mental health. One of the highlights is a "Health Illustrated" section featuring full-color medical artwork.

AMA Health Insight
Launched in 1997 by the American Medical Association, this site provides easily understood information for consumers and includes the capability to search on line for physicians, hospitals and medical subjects. All information provided (including links) is approved by an editorial board consisting of physicians, pharmacists and scientists.

American Academy of Family Physicians
Though the AAFP created this site for its 88,000 members, you don't have to be a member to use it. Anyone can access full text articles from the past few years of American Family Physician.

American Medical Association
This site covers a lot of ground - from medical news and politics to health policy and public health to science. Much of the information is open to the public, but some is for the AMA's 295,000 members only.

CancerNet
For cancer research, the National Cancer Institute's CancerNet Web site is hard to beat. The site provides access to PDQ, NCI's comprehensive cancer database: CANCERLIT, NCI's bibliographic database: cancerTrials, NCI's clinical-trials information center; as well as news, fact sheets, and other resources. Information is "reviewed regularly by oncology experts and is based on the latest research."

Center for Disease Control and Prevention
The federal agency offers statistics, news, consumer fact sheets and other resources on diseases, as well as recommendations for overseas travelers. Many doctors use this site to find current immunization recommendations and health alerts for patients traveling abroad. The full text of Morbidity and Mortality Weekly Report, current and past issues, is available at the CDC's site, along with a wide range of scientific data, health statistics, and laboratory information.

CenterWatch Clinical Trials Service
Contains lists of clinical trials of experimental treatment for many diseases. It is searchable by disease categories and geographic area. All of the trials listed accept new patients.

Dr. Bob's Mental Health Links

Elsevier Science Home Page

Hardin MD: Hardin Meta Directory of Internet Health Sources

Hardin Meta Directory - Psychiatry/Mental Health

HealthAtoZ.com
This is a family oriented site with personalization features including "My HealthAtoZ," which lets users customize the home page with news and features targeted to their interests. The site also just added "E-Mate," an interactive calendar and organizer that lets families store and manage personalized information on line.

Health Economics

Healthfinder
This is the government's directory of authoritative health information, featuring a variety of menu lists with links to online journals, medical dictionaries, minority health and prevention and self-care. Information is obtained from U.S. government agencies; national voluntary, nonprofit and professional organizations; and academic institutions and libraries.

HIV InSite
A project of the University of California at San Francisco AIDS Research Institute, this site is designed as a gateway to in-depth information about various aspects of HIV/AIDS. It provides numerous links to authoritative sites, including a directory by the American Bar Association of legal resources for people with the AIDS virus.

MedHelp International
An independent, nonprofit organization founded by two people who met in an online medical support group in 1993, this site focuses on resources for patients and their families.

Medical Matrix
This site is targeted primarily to U.S. Health care workers, but medical librarians say they also recommend the site to motivated consumers who take the time to familiarize themselves with medical terminology. It has several strengths: It ranks Internet sites, it has links to resources that are peer reviewed, and its entries are annotated.

MedicineNet.com
This site provides health news and resources that are "100% doctor-produced." The team has put together a data-base with information on 400 diseases and treatments.

Cite Health
The popular information site, organized by medical specialties, is geared to physicians, who can receive customized home pages on medical topics in their areas of interest.

National Institutes of Health
The umbrella site of the government's health research institutes includes information about consumer publications, toll-free numbers for medical information and Medline Plus, the National Library of Medicine's new consumer-oriented site. It contains a selected list of quality resources on common diseases and conditions, as well as citations with abstracts to 9 million research articles published in 3,900 biomedical journals.

NOAH: New York Online Access to Health
This is a collection of state, local and federal resources selected by editors with consumers in mind. Its authoritative sources make it a favorite of medical librarians, and it's one of the few sites available in English and Spanish. Health topic areas include definitions, care and treatment, and list of resources.

Oncolink
A resource of the University of Pennsylvania Cancer Center, this site provides information on the various forms of cancer. The site can be searched a number of ways and includes menus listed by disease or medical specialty, cancer causes, screening and prevention, clinical trials, and global resources for cancer information.

PDR.net
Created by Medical Economics Company, publisher of this magazine and other health care periodicals and directories. PDR.net offers the full-text "Physician's Desk Reference," including all the updates. "Having access to the PDR on-line is very helpful."

Psychopharmacology Tips

ThriveOnline
It was founded in 1996 as a joint venture between America Online and Time. ThriveOnline takes a magazine-style approach, with linked subsites on areas of particular interest to women: medicine, fitness, sexuality, nutrition, weight and "serenity" (stress reduction and personal exploration).

WebMD
This site, with sections geared to both doctors and consumers, offers medical news, personalized health information and support communities.

I receive many requests in my private medical practice for [written]  information about a variety of gastrointestinal and liver diseases. The following are the Links to which I refer my own private patients. They consist of Gastrointestinal Organizations offering information to Patients, Physicians, and Gastrointestinal and Liver Disease Support Groups  

Gastrointestinal Organizations Offering Patient Information

Alagille Syndrome Alliance
Information of Alagille syndrome, including diagnosis, testing, and treatment; support network for children, their parents, and others.

Alpha-1 Foundation
Educational materials for physicians and the public about testing for Alpha-1 Antitrypsin Deficiency and the treatments; Education Materials Working Groups; Research Registry Update

American Association for the Study of Liver Diseases
Information on practice guidelines; journals available online; membership directory

American College of Gastroenterology
Publications for patients on common gastrointestinal problems.

American Dietetic Association (ADA)
Monthly professional journal; monthly newsletter; books and other resources for consumers and professionals.

American Gastroenterological Association
Publications for patients on common gastrointestinal problems.

American Hemochromatosis Society Inc. (AHS)
Variety of information on hemochromatosis (HH), including DNA screening for HH and pediatric HH.

American Liver Foundation (ALF)
Information about liver wellness, liver disease, and prevention of liver disease; audiovisuals, seminars, and training programs; advocacy and research; news and events.

American Porphyria Foundation
Informational brochures about porphyria; referrals to porphyria treatment specialists; self-help services for members.

American Society for Gastrointestinal Endoscopy
Publications for patients on gastrointestinal endoscopy and digestive health; clinical guidelines.

American Society for Parenteral and Enteral Nutrition
Educational opportunities for nutrition support practitioners, including an annual conference, audio-teleconferences, self-assessment programs, postgraduate courses, publications (practice standards, clinical guidelines, and nutrition support clinical pathways), research programs.

American Society of Abdominal Surgeons
Continuing education program for physicians in abdominal surgery.

American Society of Colon and Rectal Surgeons
Publications for patients on colon and rectal diseases; listing of board-certified colorectal surgeons; material on Colorectal Awareness Month; residency programs; links to affiliated organizations.

Centers for Disease Control and Prevention (CDC), Hepatitis Branch
Publications for patients on hepatitis A through E; slide sets, videos, and posters; continuing education credited program.

Celiac Disease Foundation (CDF)
Telephone information and referral services, information packets, and special educational seminars and general meetings.

Celiac Sprue Association/USA Inc.
nformation sheets, new-patient packet, handbook.

Crohn’s & Colitis Foundation of America Inc.
Information on all aspects of Crohn’s disease and ulcerative colitis, including emotional factors and issues specific to women and children.

Cyclic Vomiting Syndrome Association (CVSA)
Promotes and facilitates medical research about nausea and vomiting; increases public and professional awareness; patient education publications.

Food Allergy Network & Anaphylaxis Network
Coping strategies for patients; booklets; videos; cookbooks; and special-alert mailings informing members of product information, including ingredient changes, recalls, or packaging mishaps.

Gastro-Intestinal Research Foundation
One-page quarterly newsletter on issues in gastrointestinal research and health available by postal mail or online.

Gluten Intolerance Group of North America
Materials on the gluten-free diet (consistent with the American Dietetic Association guidelines); summer camp for children; annual education conference; quarterly newsletter; foreign-language materials; fact sheets; videotapes; counseling and access to gluten-free products; cookbooks and resource books.

Hepatitis B Coalition/Immunization Action Coalition
Publications: NEEDLE TIPS and the Hepatitis B Coalition News and Vaccinate Adults; email news service (IAC Express); foreign-language brochures and materials for various ethnic populations; print materials for clinic staff; videotapes and posters.

Hepatitis B Foundation
Updated “Drug Watch” list of compounds under development of chronic HBV; liver specialist directory; printable brochures and newsletters; advice for carriers, adoptive parents, and health care providers; interactive email; general hepatitis B information; new language chapters coming soon.

Hepatitis Foundation International (HFI)
Audiovisual materials for the public; database of hepatitis support groups; telephone support network for patients; foreign-language materials; educational materials (posters, brochures, videos, and books); a workbook about the liver for children.

International Foundation for Functional Gastrointestinal Disease (IFFGD) Inc.
Information on gastrointestinal motility disorders in infants, children, and adults; publications on functional gastrointestinal disorders.

Intestinal Disease Foundation
Information, guidance, and support for people with chronic digestive illnesses.

Iron Overload Diseases Association Inc. (IOD)
Counseling for patients with hemochromatosis and their families; physician referrals; educational materials including a booklet, newsletter, and an information brochure.

National Association for Continence (NAFC)
Information on incontinence, including books and audiovisuals.

National Organization for Rare Disorders (NORD)
Helps people with rare “orphan” diseases and the organizations that serve the; NORD Resource Guide; Physicians Guide for Rare Disorders.

North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition (NASPGHAN)
Information for the public on numerous pediatric gastrointestinal, liver, and nutritional disorders; a directory of pediatric gastroenterologists in the United States and Canada; educational activities for physicians.

Oley Foundation for Home Parenteral and Enteral Nutrition (HomePEN)
Educational materials on home parenteral and enteral nutrition, including a nutrition complication chart and nutrition choices video; family network; toll-free consumer networking; video library of annual conference presentations.

Pediatric/Adolescent Gastroesophageal Reflux Association Inc. (PAGER)
Literature on pediatric gastroesophageal reflux disease (GERD) and related disorders; support for patients, their families, and the public; hereditary GERD study.

Pediatric Crohn’s & Colitis Association Inc.
Information on medical, nutritional, psychological, and social factors in pediatric and adolescent Crohn’s disease and ulcerative colitis.

Reach Out for Youth With Ileitis and Colitis Inc.
Educational and emotional support for patients and their families; educational seminars and quarterly newsletters; hotline.

Simon Foundation for Continence
Assistance and support for those with urinary incontinence; educational materials including a book on managing incontinence.

Society for Surgery of the Alimentary Tract (SSAT)
Forum for information exchange among physicians specializing in alimentary tract surgery.

Society of American Gastrointestinal Endoscopic Surgeons (SAGES)
Publications for patients about gastrointestinal endoscopy, laparoscopy, and minimal access surgery.

Society of Gastroenterology Nurses and Associates (SGNA)
Provides members with continuing educations opportunities, practice and training guidelines, and information about gastroenterology.

United Network for Organ Sharing (UNOS)
Publications for patients on transplantation; UNOS member directory.

United Ostomy Association Inc.
Volunteer-based association providing education, information, support, and advocacy for people facing intestinal or urinary diversions.

Weight-Control Information Network (WIN)
Science-based health information materials on weight control, obesity, physical activity, and related nutritional issues.

Wilson’s Disease Association
Communications and support network for individuals affected by Wilson’s disease; patient information; referrals; meetings.

Wound, Ostomy, and Continence Nurses Society (WOCN)
Professional, educational, and clinical resource materials for people with wounds, ostomies, and incontinence.

ON-LINE CLINICAL CONSULTING SERVICES

Ask Dr. Weil
One of the first and most popular sites catering to those with an interest in holistic health and herbal medicine, Ask Dr. Weil is built around health questions answered by alternative medicine pioneer Andrew Weil, who runs a program in integrative medicine at the University of Arizona in Tucson. Visitors can ask questions by filling out a form or read articles by Weil and others. 

Dr Greene's HouseCalls

DrKoop.com
With Dr. Koop himself as chairman and spokesman, the site claims six million individuals visits since its launch nearly a year ago. It offers more than 120 chat groups, as well as advise from physicians Nancy Snyderman, a popular radio and television personality.

Drug Infonet
This independent unsponsored site provides a range of valuable and clearly organized information, including details from package inserts and consumer pamphlets for many drugs, links to manufacturers' sites, an "Ask the Expert" section and other resources.

InteliHealth
A joint venture of Aetna U.S. Healthcare and the respected Johns Hopkins University Hospital and Health Care System, this award winning news site also rounds up the latest tools and references (dictionaries, database indexes, hospital locators), has experts check them out and puts them in a reader-friendly package.

Mayo Clinic Health Oasis
Is one of the oldest and best-known consumer sources of health information. Editors are physicians at the Mayo Clinic, and an emphasis is placed on providing timely information, with revision dates noted. Look in the library section for an extensive list of reference articles written by Mayo Clinic staff.

MediConsult.com
This site, run by an independent consumer-health marketing company, provides peer-reviewed educational materials, support groups and an innovative "MediXperts" service, which provides users with tailored, confidential information from top specialists in North America. You submit your questions, and an expert sends a response in two to five days.

Links to Second Medical Opinions for a fee.

Often in my private medical practice I’m asked to render a second medical opinion only by E-Mail and without being shown any previous medical records. I do not offer such E-Mail services. But there are several excellent groups that are designed to do this. This group of links to  second medical opinions are not free of charge. The fees may be charged by these groups are listed next to their web site. Perry Hookman MD nor the Web-site of Perry Hookman MD, PA  has no direct or indirect financial relationship with any of these second medical opinion web sites or any other links on this entire web-site.

If you want an Internet second opinion, you will almost always need to tell your original doctor, because patient-privacy laws, as well as state laws governing where doctors practice medicine, require Web sites to obtain medical-release forms from the first physician.  But second opinions are a corner-stone of good medicine, and your doctor shouldn't make you feel uncomfortable about seeking one.

LEGAL DISCLAIMER:
The information offered here on this web site is offered as a public service "AS IS" with no representations or warranties with respect to accuracy of editing, attribution, verification  and  completeness  of  this information. Any  statements or  opinions based on any links, are not guaranteed, endorsed or sponsored nor are meant to constitute medical diagnosis or advice by Perry Hookman MD. Nothing here on this web site should  be acted or relied upon without independent review and verification. The reader expressly assumes all risks in using this information. We are not responsible for errors or omissions or liable for any damages incurred as a result of use or reliance upon this information.

Patients who go to eyecance.com, for instance can easily learn that the site is created by New York ocular oncologist Paul Finger.

Researching a Health Care Provider

These independent organizations provide information about providers:
American Medical Association


The American Medical Association Web site "Physician Select" allows you to 
search for information by name, medical specialty or by condition. You can 
also find out the physician's gender, specialty and Board status, medical 
school and graduation date, and residency training.


American Psychological Association
http://www.apa.org

Find out if a psychologist belongs to the APA by calling 1-800-964-2000. A 
Customer Service Representative will provide you with the phone number of 
the APA referral system in your area.

These organizations provide quality comparison tools:

HealthGrades
http://www.healthgrades.com

HealthGrades provides a variety of information on physicians and hospitals 
based on data from the Centers for Medicare and Medicaid Services. Hospital 
ratings include mortality by diagnosis and Leapfrog status. (Note: There is 
a charge for some reports).

Hospital Compare
http://www.hospitalcompare.hhs.gov

Hospital Compare allows you to compare the quality of care provided in 
acute-care hospitals (general hospitals) and critical access hospitals 
(rural community hospitals) for adult patients with common medical 
conditions such as heart attack, heart failure and pneumonia.

Leapfrog Group
http://www.leapfroggroup.org

The Leapfrog Group provides information on the quality of certain aspects of 
care relevant to urban area hospitals.

Quality Check
http://www.qualitycheck.org

Quality Check is a comprehensive guide to the nearly 16,000 Joint 
Commission-Accredited Health Care Organizations (JCAHO) and programs 
throughout the United States. JCAHO provides organization-specific Quality 
Reports which include:
JCAHO accreditation status;
Compliance with the Joint Commission's National Patient Safety Goals, and 
performance on National Quality Improvement Goals (hospitals only). National 
Quality Improvement Goals allow hospitals to report on the key indicators of 
quality of care in up to four treatment areas: heart attack, heart failure, 
community acquired pneumonia, and pregnancy and related conditions; and 
Special quality awards. 


Medical Quality Assurance
Most of these sites offer free information. Some will charge a fee. You may choose to close any site that charges.
We are not ever the direct or indirect beneficiaries of any fees.


(ADAPTED FROM 11/23/05 WSJ)

Sites Offering Data Reviews of Doctors

American Medical Association DoctorFinder
What it offers: Basic credentials on more than 690,000 licensed physicians in the U.S., such as educational background and board certification. Those who belong to the American Medical Association can create expanded listings that show, for instance, office hours, accepted insurance providers and professional achievements.
What it costs: Free. 

Administrators In Medicine DocFinder
What it offers: Data on thousands of doctors and other healthcare practitioners, including licensing background, disciplinary history and other information provided by licensing boards in 19 states. DocFinder also provides links to Web sites with information for many of the states not included in its own search tool. The site is maintained by Administrators in Medicine, a nonprofit whose members include executives of state medical and osteopathic boards.
What it costs: Free.

Federation of State Medical Boards Physician Data Center
What it offers: Reports detailing the history of disciplinary actions taken against doctors. A physician with a "clean" report has not been disciplined by a state medical board.
What it costs: $9.95 per report.

HealthGrades.com
What it offers: "Quality reports" on nearly 600,000 physicians, with information on doctors' medical training, board certification, and any disciplinary action taken in the past five years by state or federal officials. The site is run by Golden, Colo.-based Health Grades Inc., a publicly held healthcare quality ratings and services company.
What it costs: $7.95 for a report on an individual doctor. For $9.95, users can access a report on 20 physicians in a given geographic location.

RateMDs.com
What it offers: Patient ratings on more than 16,500 doctors in the U.S., with rankings for punctuality, helpfulness and knowledge. Doctors with high overall ratings get a smiley face, while those with low marks get a sad face. What it costs: Free.

DrScore.com
What it offers: More than 7,800 patient ratings of about 6,500 doctors in the U.S., compiled by privately held Medical Quality Enhancement Corp., based in Winston-Salem, N.C.
What it costs: Free.


Researching a Health Care Lawyer

American Bar Association

The National Bar Association
Executive editor. John Crump, 202-842-3900.

Martindale-Hubbell Law Directory and M-H Lawyer Locator
Also sponsors www.lawyers.com for individuals and small businesses, listing attorneys by location or specialty.

West's Legal Directory,
Similar to Martindale-Hubbell directory.

Legal Serv
Legal directory containing over 500,000 attorneys and law firms.

GASTROENTEROLOGY AND GASTROINTESTIONAL RESEARCH

TABLE 1. Digestive Diseases Search Resources

Medical Search Engines With Gastroenterology Indexes 

Gastroenterology Web Pages With Extensive Links

Columbia University Gastroenterology Links
One of the first academic gastroenterology web sites.

Dr K's Index of GI Sites and Articles
In addition, has other interesting links such as health insurance and job market.

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) 

 

TABLE 2. Online Professional Organizations in Digestive Diseases

American College of Gastroenterology
Collection of practice guidelines in gastroenterology with abstracts and references; the forum "GI Focus" provides discussion on clinical topics encountered in daily practice; online journal American Journal of Gastroenterology; consumer health brochures; gastroenterology physician locator.

American Dietetic Association (ADA)
Online journal The Journal of The American Dietetic Association with abstracts; extensive list of nutrition related web sites for professionals and the public; searches for registered dietitians in any region of US; very useful nutrition fact sheet for the public.

American Gastroenterology Association
A well organized and sophisticated site; online journal Gastroenterology; practice guidelines for clinicians; public policy issues for the physician; practice management tools; gastroenterologist locator service for all states in the United States; public discussion forum on the digestive disease.

American Pseudo-obstruction and Hirschsprung's Disease Society (APHS)
Information brochures; two online newsletters "Gutwaves" and "The Messenger."

American Society for Gastrointestinal Endoscopy
Online journal Gastrointestinal Endoscopy:, clinical practice guidelines; patient educational materials on endoscopic procedures.

American Society for Parenteral and Enteral Nutrition
Online journals Journal of Parenteral and Enteral Nutrition and Nutrition and Clinical Practice; information on several important publications such as "Nutrition Support Team Resources"; clinical practice guidelines; nutrition support clinical pathways; roster of regional chapters.

American Society of Colon and Rectal Surgeons
Practice parameters on common colorectal problems; information directory of residency programs; ListServ for colorectal surgery community; well prepared patient brochures on common problems such as hemorrhoids.

Italian Liver Foundation
Primarily in Italian, with a limited English version.

Society of American Gastrointestinal Endoscopic Surgeons
Online journal Surgical Endoscopy; online bulletin "SCOPE"; clinical practice guidelines; position statements and standards e.g., on granting privileges for GI endoscopy by surgeons; information on fellowship programs.

Society of Gastroenterology Nurses and Associates Inc.
Position statements on the role of endoscopy nurses in all aspects of endoscopy; discussion forum.

United European Gastroenterology Federation
An umbrella organization of gastroenterology in Europe.

United Network for Organ Sharing (UNOS)
Up-to-date news on the subject; weekly data on national waiting lists on different organs; center specific data on graft and patient survival by state; help to patients on choosing a center.

TABLE 3.  Digestive Disease Foundations


American Digestive Health Foundation (ADHF)

A joint effort of American Gastroenterology Association, American Society of Gastrointestinal Endoscopy and American Association for the study of Liver Diseases, to advanced digestive diseases; current campaign on peptic ulcer disease, colorectal cancer and vital hepatitis.

American Liver Foundation (ALF)
Comprehensive and detailed patient education materials about liver diseases and prevention: liver transplantation and organ donation.

Center Watch-Clinical Trial Listings for Gastroenterology
International listing of ongoing clinical trials by geographic region and disease categories.

Crohn's and Colitis Foundation of America Inc.
Instructional materials about all aspects of Crohn's disease and ulcerative colitis; including concerns specific to women and children; weekly news updates; an online forum where questions can be directed to the specialists.

Crohn's and Colitis Foundation of Canada
Bilingual with English and French sections; excerpts from monthly publication, The Journal ; patient information materials.

Gluten Free Page
Links to sites by individuals with celiac disease, educational institutions, commercial sites, pathology/endoscopy images, gluten-free cookbooks and other gluten intolerance web sites.

Helicobacter Foundation
Extensive materials for patients and professionals on helicobacter pylori including its history, epidemiology, and current treatments updated by Barry Marshall, the discoverer of H. pylori, National Institutes of Health (NIH) consensus statements.

Hepatitis B Coalition
"Vaccinate Adults!"-An outline newsletter for adults medicine specialists; patient education materials available in several languages; links to hepatitis and immunization sites; IAC Express, an e-mail news service.

Hepatitis B Foundation
Patient education materials about all aspects of hepatitis B with advice for patients and carriers; a "drug watch" for drug therapies in various testing stages and information for those interested in participating in clinical trials; directory for hepatologists; glossary of useful phone numbers.

Hepatitis Foundation International (HFI)
A multilingual site with English, French, Spanish, and Portuguese sections; detailed information on hepatitis A, B, C, D, E, and F.

American Liver Foundation (ALF)
Comprehensive and detailed patient education materials about liver diseases and prevention: liver transplantation and organ donation.

Crohn's and Colitis Foundation of America Inc.
Instructional materials about all aspects of Crohn's disease and ulcerative colitis; including concerns specific to women and children; weekly news updates; an online forum where questions can be directed to the specialists.

Crohn's and Colitis Foundation of Canada
Bilingual with English and French sections; excerpts from monthly publication, The Journal ; patient information materials.

Gluten Free Page
Links to sites by individuals with celiac disease, educational institutions, commercial sites, pathology/endoscopy images, gluten-free cookbooks and other gluten intolerance web sites.

Helicobacter Foundation
Extensive materials for patients and professionals on helicobacter pylori including its history, epidemiology, and current treatments updated by Barry Marshall, the discoverer of H. pylori, National Institutes of Health (NIH) consensus statements.

Hepatitis B Coalition
"Vaccinate Adults!"-An outline newsletter for adults medicine specialists; patient education materials available in several languages; links to hepatitis and immunization sites; IAC Express, an e-mail news service.

Hepatitis B Foundation
Patient education materials about all aspects of hepatitis B with advice for patients and carriers; a "drug watch" for drug therapies in various testing stages and information for those interested in participating in clinical trials; directory for hepatologists; glossary of useful phone numbers.

Hepatitis Foundation International (HFI)
A multilingual site with English, French, Spanish, and Portuguese sections; detailed information on hepatitis A, B, C, D, E, and F.

TABLE 4. Online Academic Gastroenterology and Hepatology Programs 

Columbia University Gastroenterology
An excellent site with extensive GI links; endoscopic ultrasound page.

Queen's University Gastrointestinal Diseases Research Unit
Physician education program with quizzes, case histories and commentaries on current literature; cases with esophageal manometeric interpretations.

Stanford University Medical Center Liver Transplantation Program
Online quarterly Liver Bulletin; information for physicians and patients on liver transplantation; comparison on survival data for all of the major transplantation centers.

Temple University School of Medicine Gastroenterology Section
Interesting cases; list of clinical studies.

on digestive disease

University of Cincinnati Division of Digestive Diseases
Information and classic articles on liver transportation.

University of Southern California Liver Transplant Program and center for Liver Disease
A site for professionals; online version of print newsletter, "The Liver Circulation".

University of Utah Division of Gastroenterology

University of Virginia Center Study of Diseases Due to H. Pylori
H. Pylori laboratory for resistant organisms and development of new treatments.

Washington University-St. Louis Children's Hospital Division of Pediatric Gastroenterology and Nutrition
Information on pediatric liver program.

TABLE 5. Government Health

Centers For Disease Control
Provides information on human diseases; their prevention and public health; region-specific recommendations for international travel on prevention of gastrointestinal diseases such as hepatitis and diarrhea; hepatitis A-E slide set.

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Perhaps the best site for thorough patient information materials on a variety of common digestive diseases including nutritional and obesity issues; many other digestive disease sites link to this home page; patient recruitment for various ongoing clinical trials at NIH; up-to-date information on NIH grants and contracts; database on rare disorders.

National Digestive Diseases Information Clearinghouse
A service of the NIDDK, it is a large database on digestive disease materials not indexed elsewhere, such as book chapters, monographs, newsletters, pamphlets and journal articles; allows simple and complex searches on digestive diseases including nutrition and obesity.

National Library of Medicine (NLM)
Primarily for health professionals but there is also a large amount educational materials for the public; free access to MedLine through Internet Grateful Med or PubMed; search the Library of Medicine; clinical practice guidelines and quick-reference guides for clinicians published by Health Services and Technology Assessment; NIH clinical alerts; Visible Human Project; International MEDLARS centers for access to NLM for health professionals outside the US; links to other government agencies.


Medical Encyclopedia

The adam Health Illustrated Encyclopedia includes over 4,000 articles about diseases, tests, symptoms, injuries, and surgeries. It also contains an extensive library of medical photographs and illustrations. For more information about adam.

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The information provided herein should not be used for diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Copyright 2000 adam.com, Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

 

TABLE 6. Sites of Specific Areas of Interest to the Gastroenterologist and Hepatologist

Endoscopy

University of Michigan Medical Center Gastrointestinal Endoscopy Home page
A catalogue of normal and abnormal endoscopic findings with some case discussions appropriate for training and general public.

Miscellaneous

GERD Information Resource Center
Maintained by Astra-Merck, Inc.: information for the public and health care professionals; abstracts of the 500 most cited articles on gastroesophageal reflux disease (GRED).

University of Alberta Electrogastrography
An excellent site for researchers and clinicians interested in electrogastrography; maintained by the University of Alberta, Department of Electrical Engineering; 112 references.

TABLE 7. Digestive Diseases and Other Related Online Journals

Annals of Internal Medicine

Archives of Internal Medicine

Canadian Journal of Gastroenterology

Current Topics in Gastroenterology

Dysphagia

Gastrointestinal Endoscopy

Gut

International Journal of Colorectal Disease

Journal of The American Medical Association

Surgical Endoscopy

TABLE 8. Digestive Diseases Related Listserves

American Endosonography Club
E-mail address: EUS-L@nervm.nerdc.ufl.edu
List type: listserv
Comments: For endoscopists with interest in endoscopic ultrasound. Subscription requests should be sent to listserv@nerdc.ufl.eud.

Chronic Hepatitis Support
E-mail address: HEPV-L@sjuvm.stjohns.edu.
List type: listserv
Comments: Support for patients with viral hepatitis.

Chronic Autoimmune Liver Disease Support Group
E-mail address: LIVERSUPPORT-L@listserv.aol.com.
List type: listserv

Colon Cancer Support
E-mail address: COLON@sjuvm.stjohns.edu.
List type: listserv
Comments: Started by a survivor of colon cancer. Serves as a support group and educated forum.

Gastrointestinal Pathology
E-mail address: Gipath@list.mc.duke.edu.
List type: majordomo
Comments: For medical professionals with interest in gastrointestinal pathology.

Gastro Electronic Hilights Bulletin
E-mail address: GASTRO-EHLB@listserv.acor.org.
List type: listserv
Comments: For people diagnosed with chronic hepatitis and physicians who treat them.

Feeding Gastrostomies
E-mail address: gtube@gospel.iinet.net.au.
List type: special server
Comments: For parents of children with feeding tubes, adult users of feeding tubes, and professionals. See http://www.iinet.com.au/~scarffam/gtubelist/gtubelst.html for subscription.

Pullthrough
E-mail address: pullthrough@mail.serve.com.
List type: majordomo
Comments: For parents of children who had pull-through surgery.

WDA Discussion Group
E-mail address: WILSONS-LIST@listserv.acsu.buffalo.edu.
List type: listserv
Comments: For individuals interested in or afflicted by Wilson's disease.

Gastrointestinal, Liver & Other Genetic Disorders

Frequently questions arise in my private medical practice about gastrointestinal, liver and other symptoms in children  from their worried parents- especially from Jewish and/or Mediterranean backgrounds -about Genetic diseases. These in my opinion are the best sources [and Links] for information about the subject.  

Center for Jewish Genetic Diseases
This center is the first center in the world devoted to the study of the diseases that affect Ashkenazi Jews.  The center’s mission is to improve the diagnosis, treatment and counseling of patients and their families suffering from the Jewish genetic diseases and to conduct intensive research to combat these inherited diseases.

Mount Sinai School of Medicine
1 Gustave L. Levy Pl.
Box 1497
New York, NY  10029
(212) 659-6774
[Also The Center for Medical Genetics at Maimonides Medical Center, 4802 Tenth Avenue,Brooklyn, NY 11219]

Bachman-Strauss Dystonia & Parkinson Foundation
This foundation was established to provide support, research and treatment; promote medical and patient education, and sustain local and regional support groups for patients and caregivers confronting dystonia and other movement disorders.

1 Gustave L. Levy Pl.
Box 1490
New York, NY  10029
(212) 241-5614
Bachmann.Strauss@mssm.edu

Canavan Foundation
A volunteer, nonprofit foundation, whose goals are to support research and to educate the medical community and at-risk populations. 

110 Riverside Dr., #4F
New York, NY 10024
(212) 873-4640
(877) 4-canavan
Fax: (212) 873-7892
info@canavanfoundation.org

Fairwood Professional Building
Route 37
New Fairfield, CT 06812
(203) 746-2436
Fax: (203) 746-3205

Definition: Canavan disease, carried by one in 35 Ashkenazi Jews, is a disease of the brain and central nervous system.  Canavan patients have a deficiency of the enzyme aspartoacyclase, which is necessary for normal brain development, and therefore cannot generate myelin, which insulates nerve cells and allows transmission of nerve impulses.

Symptoms: The disease is first clinically evident when a child is 3 months to 6 months old.  The most obvious symptoms are lack of head control, poor muscle tone, increased head circumference and reduced visual responsiveness.  Affected infants fail to achieve developmental milestones and later on lose those milestones, causing mental retardation.

Testing: With a simple blood test, DNA-based carrier screening and parental tests are now available at genetic centers.  The American College of Obstetricians and Gynecologists recommends that all Ashkenazi Jewish couples be tested for Canavan.

Treatment: At present, gene therapy is being evaluated as a possible treatment for Canavan disease.  The only treatments are for relieving discomfort. 

Fanconi Anemia Research Fund
A family-driven fund that helps support research on this under diagnosed blood disorder.  It also supports an international network for support, education and help, and publishes four newsletters.

1801 Willamette St., Suite 200
Eugene, OR 97401
(541) 687-4658
(800) 828-4891
Fax: (541) 687-0548
info@fanconi.org

Definition:  Fanconi anemia is a fatal, recessive blood disorder that causes bone marrow failure and may cause birth defects.  One in 87 people of Ashkenazic ancestry carries a defective Fanconi anemia gene.  If both parents carry a defect in the same Fanconi anemia gene, each of their children has a 25% chance of having Fanconi anemia.  Patients usually do not reach adulthood.

Symptoms:  Patients may feel fatigue and have frequent infections, nosebleeds or bruises.  Blood tests may show a low white or read blood-cell or platelet count or other abnormalities.  Fanconi anemia may sometimes be seen at birth through physical defects, such as missing thumbs, kidney problems or an undersized head or sex organ.

Testing:  The only definitive test is a chromosome breakage test.  Some of the patients’ blood cells are treated in a test tube with a chemical that affects the DNA, causing Fanconi anemia cells to show chromosome breakage.  These tests can be performed prenatally.

Treatment:  Researchers are still looking for a cure for this disease.  A number of treatments exist, ranging from a medication called Oxymetholone, used to stimulate hemoglobin, to a bone-marrow transplant.  Patients will always carry the defective gene and are susceptible to malignancies such as leukemia and head, neck, gastrointestinal and gynecological cancers.

National Gaucher Foundation
A nonprofit organization that supports research and development for treatments and a potential cure.  Among the many programs: a medical hotline, two care programs to help pay for treatment, education resources, symposia and local chapters.

5410 Edison Ln., Suite 260
Rockville, MD 20852
(301) 816-1515
(800) 428-2437
Fax: (301) 816-1516
ngf@gaucherdisease.org

Definition:  Gaucher disease results from defects in a gene that is responsible for an enzyme called glucocerebrosidase.  This enzyme helps the body break down particular kinds of sugary fat.  For people with Gaucher disease, the body is not able to produce this enzyme properly, and the fat cannot be broken down.  The sugary fat accumulates, primarily in the liver, spleen and bone marrow.

Among Ashkenazi Jews, Gaucher disease is the most common genetic disorder.  About one in 13 individuals is a carrier.  Some one-tenth to one-third of those with the disease shows symptoms.  This disease occurs in non-Jews, but is much rarer.

Symptoms:  The major signs and symptoms are enlarged liver and spleen, low blood counts and bone involvement, including pain and fracture.  Patients may have increased bleeding and anemia-induced fatigue.

Testing:  A simple blood test is used to determine whether a person experiencing symptoms has Gaucher disease.  Chorionic villus sampling and amniocentesis can be used to diagnose Gaucher disease during early pregnancy.

Treatment:  In the spring of 1991, enzyme replacement therapy became available as the first effective treatment for one of the variants of the disease.  The treatment consists of a modified form of the glucocerebrosidase enzyme that is administered intravenously.  Indications are that enzyme replacement therapy reverses the symptoms of Gaucher disease, allowing individual to enjoy a better quality of life.

Definition: Tay-Sachs disease is caused by the congenital absence of a vital enzyme, hexosaminidase A.  Without the enzyme, the body cannot break down one of its own fatty substances, which builds up abnormally in the brain and progressively impairs the central nervous system.

The gene that causes the infantile form of this disease is present in about one in 27 Ashkenazi Jews in America.  About one in 250 Sephardi Jews and people not of Jewish decent are also carriers.

Symptoms: The disease usually is not clinically evident until a child is 4 month to 8 months old, when peripheral vision is lost and abnormal startle response is observed along with delayed developmental milestones.  By age 1, most patients begin to lose motor and coordination skills.  Eventually, they become blind, mentally retarded and paralyzed.  Death usually occurs by age 5.  In juvenile Tay-Sachs, symptoms present and progress in early childhood, and life expectancy is longer.

Testing:  A blood test determines the amount of hex A in the cells and reliably predicts whether a person is a carrier.  DNA testing is also available.  If both members of a couple are carriers, then have a one-in-four risk of having an affected child.  Amniocentesis or chorionic villus sampling determines if the fetus is affected.  If testing occurs during pregnancy, leukocyte analysis should be utilized to reduce the chances of an inconclusive result.

Treatment:  Only symptom control and discomfort relief are available.  Current research includes gene therapy, skin cell therapy, stem cell therapy and substrate deprivation therapy.

Late Onset Tay Sachs Foundation
Services include support for members, a bimonthly newsletter, an annual conference, a speaker’s bureau and education of health professionals and the medical community.  The Late Onset Tay-Sachs Foundation is also involved in raising money for research.

1303 Paper Mill Road
Erdenheim, PA 19038
(215) 836-9426
(800) 672-2022
Fax:  (215) 836-5438
lotsf@verizon.net

Definition: Late onset Tay-Sachs (LOTS) occurs in the adolescents and adults and is the result of having only small quantities of hexosaminidase A rather than a complete absence.  Since the first cases were described in the 1970s, the disease has bene detected in less than 200 patients.  The prevalence of the late onset gene among Ashkenazi Jews is not known.

Symptoms:  Symptoms are not consistent among patients.  They include clumsiness, speech impediments, unstable gait and balance, muscle weakness, tremors, memory impairment and mood alterations.

Testing:  Same as for the infantile-onset Tay-Sachs.  In the past, many affected people were misdiagnosed as having muscular dystrophy or multiple sclerosis.

Treatment:  While in the past treatment has been focused on managing the varied symptoms of LOTS, new therapies currently in progress and in development hold a lot of promise.  The first clinical trial in patients with LOTS is currently underway at two sites:  the University Hospitals of Cleveland and New York University.  This therapy is looking at the effects of enzyme inhibition therapy, which reduces the formation of fatty substances that cannot be broken down by the low hex A enzyme level.  Preliminary results should be available in about one year.  Stem cell therapy and gene therapy may both hold hope for treatment in the future, and some laboratories are currently investigating these therapies in mouse models.  Also on the horizon is enzyme replacement therapy, but the trick here is getting the hex A enzyme into the central nervous system once it is in the body.  Investigators are currently looking at this option, similar to the enzyme replacement therapy that is now available for similar diseases, such as Gaucher and Fabry disease.

National MPS Society (Muclolipidosis)
A support group, public education center and research fundraising organization.  Publishes a newsletter, a membership directory and Spanish-language brochures.  Also sponsors conferences.

45 Packard Dr.
Bangor, ME 04401
(207) 947-1445
Fax: (207) 990-3074
info@mpssociety.org

ML4 Foundation
This foundation is a nonprofit organization for parents and professional committed to raising funds for ML 4 research.  It also provides a support network for parents and siblings of affected children.

719 East 17th St.
Brooklyn, NY 11230
(718) 434-5067
(718) 859-7371
www@ml4.org

Definition:  Muclolipidosis (ML4), first described in 1974, is characterized by the deficiency of a transport protein that plays a crucial role in the psychomotor development.  It is the most-recently recognized genetic disorder affecting Ashkenazi Jews; one out of 100 Ashkenazi Jews are carriers. 

Symptoms:  Children with ML4 begin to exhibit developmental delays during the first year of life.  Motor and mental retardation can be mild to severe.  Patients with ML4 have severely impaired abilities in crawling, walking, talking and learning basic skills.  ML4 also severely limits vision.  Many patients experience clouding of the cornea.

Testing:  Currently, a diagnosis of ML4 is made in mildly to moderately retarded Jewish children who also have corneal clouding.  Prenatal diagnosis, which has been successful through amniocentesis, must be performed at centers that have experience with specialized techniques.  Carrier testing is available.  ML4 may soon be added to the battery of diseases screened for in the United States.

Treatment:  No specific treatment is available; care focuses on support therapies and medical management to improve quality of life.  The recent discovery of the gene may eventually lead to gene therapy or other forms of treatment.

National Dysautonomia Research Foundation
National Dysautonomia Research Foundation is a nonprofit foundation, established to help those who are afflicted with any of the various forms of Dysautonomia.  It provides a support network for afflicted individuals and family members by providing information on the various forms of Dysautonomia, as well as providing contacts to other organizations that may be of assistance.

1407 W. Fourth St., Suite 160
Red Wing, MN 55066
(651) 267-0525
Fax: (651) 267-0524

Dysautonomia Foundation
This is a nonprofit, voluntary organization founded in 1951 by parents of afflicted children.  It is headquartered in New York, with 16 chapters in the United States, Canada, Great Britain and Israel, and provides information upon request.

633 Third Ave., 12th floor
New York, NY 10017
(212) 949-6644
Fax: (212) 682-7625

Familial Dysautonomia Hope
FD Hope is a nonprofit organization whose mission is to expand and accelerate scientific research that will find a cure for FD.  Programs include grants for medical research, awareness and education for the public and within the medical community; support for FD families promotion of carrier screening, and advocacy.

605 5th Avenue.
Conover, NC 28613
(828) 695-1060
Fax: (828) 695-1060
info@fdhope.org

Definition: Familial Dysautonomia (FD), also known as Riley-Day syndrome, is a progressive neurogenetic disorder that affects the sensory and autonomic nervous systems.  It is estimated that about one in 27 Ashkenazi Jews is a carrier of the FD gene.

Symptoms: Unable to control bodily functions.  Individuals with FD suffer from episodes of cyclical vomiting with high blood pressure and heart rate, sweating and fever, called “autonomic crisis,” one of the most devastating symptoms of this disease.  Problems with both high and low blood pressure as well as breathing problems (apnea and aspiration pneumonias) result in early death.  Infants and young children with FD have delay in speech and motor development, difficulty suckling and feeding, and low muscle tone.  As they age, poor growth, back curvatures (scoliosis and lordosis) and decrease sensation to pain and temperature become evident.  Two hallmarks of FD are the inability to cry tears, which can lead to severe eye damage, and the lack of certain taste buds on the tongue, giving it a relatively smooth and shiny appearance.  Intelligence is usually normal in affected individuals; however, learning disabilities are common.

Testing: In January 2001, the two mutations that cause the disease were identified, and the carrier test is now available.  The reliability of the blood test is greater than 99%.

Treatment: The first treatment ever suggested for FD was announced on May 26 of this year.  This exciting breakthrough by researchers at Fordham University revealed that a form of Vitamin E (tocotrienol) improves IKAP gene function, which is affected by the FD mutation.  Significant improvements have been reported by patients who have begun using tocotrienol, and the treatment holds promise for improving the health and quality of life for those afflicted with FD.

Dystonia Medical Research Foundation
The goals of this foundation are to advance research into the causes of and treatments for dystonia, build awareness in the medical and lay communities, and sponsor patient and family support groups and programs.

1 East Wacker Dr., Suite 2430
Chicago, IL 60601
(312) 755-0198
Fax: (312) 803-0138
dystonia@dystonia-foundation.org

Definition:  Dystonia is a neurological disorder characterized by involuntary muscle contractions, sometimes with intermittent spasms or tremors.  It can affect any part of the body but does not affect intellect.  It is not a fatal disorder.

In 1997, researchers identified the DYT1 gene responsible for one form of the disease, early-onset generalized dystonia.  The gene that causes this form of the disease is dominant, and a carrier has a 30% to 40% chance of developing symptoms.  There are other types of idiopathic torsion dystonia (ITD), also described as dystonia musculorum deformans or generalized dystonia, which is more prevalent in Ashkenazi Jews than in the general population.  Estimates for the gene’s prevalence in the Ashkenazic population vary, ranging from one in 900 to one in 3,000.

Symptoms:  Dystonia manifests itself in sustained, involuntary contractions of the muscles in one or more parts of the body.  ITD typically starts in on part of the body, including the back, neck or arm.

Testing:  There is now a simple blood test for DYTI, and hopefully that testing will soon be available for other forms of the disease.  The diagnosis of dystonia also rests upon neurological examination.  Prenatal diagnosis can be determined from samples of amniotic fluid from the pregnant woman’s womb.

Treatment:  There is no cure for dystonia, but treatments include drug therapy, botulinum toxin injections and several types of surgery.  With the mapping of the gene code, gene or enzyme therapy may become a possibility.

National Niemann-Pick Foundation
An international, voluntary, nonprofit organization made up of parents and medical and educational professionals.  It promotes research, provides medical and educational information to assist in diagnosis and offers families referrals, support and genetic counseling.

P.O. Box 49
415 Madison Ave.
Ft. Atkinson, WI 53538
(920) 563-0930
Fax: (920) 563-0931
nnpd@idcnet.com

Definition:  Niemann-Pick disease includes several subtypes, two of which stem from a deficiency of the acid sphingomyelinase, an enzyme that breaks down a fatty substance called sphingomyelin.  As a result of the enzyme deficiency, the unbroken-down fat accumulates mainly in the spleen, lymph nodes and brain.  About one in 73 Ashkenazi Jews is a carrier.

Type A is a neurodegenerative disorder of infancy, and type B is a milder disorder that doesn’t affect the brain but results in involvement of the liver, spleen, lungs and bone marrow.

Symptoms:  Type A begins in the first few months of life, and symptoms may include feeding difficulties, an abnormally large abdomen at the age of 3 months to 6 months and progressive loss of early motor skills.  Type A generally leads to death by 2 or 3 years of age.  The symptoms for type B may include abdominal enlargement and respiratory complications.

Testing:  Carrier testing can be done by DNA analysis, and prenatal diagnosis can be made by determining acid sphingomyelinase activity, specific DNA mutations in blood somes or by analyzing chorionic villi or amniotic cells early in pregnancy.

Treatment:  The acid sphingomyelinase gene has been used to produce large quantities of the human enzyme in the laboratory for future therapeutic evaluation.  Mice with Niemann-Pick type A have been generated, and studies have been initiated to treat these mice by bone-marrow transplantation and gene therapy.

United Leukodystrophy Foundation
A group that works to increase public awareness about leukodystrophy and other white-matter disorders as well as provide support services to those with the disease and their families, such as information and assistance in finding sources of medical care, social services and genetic counseling.

2304 Highland Dr.
Sycamore, IL 60178
(800) 728-5483
Fax: (815) 895-2432
ulf@tbcnet.org

 

HELP FOR JEWISH GENETIC DISEASES AS OF AUGUST 2011:

2011 Annual Guide to Jewish Genetic Diseases [from the Aug 12, 2011Forward]

There are about 20 known “Ashkenazic diseases,” though more are being discovered all the time. Here are diseases that are commonly screened for in Jewish couples who are planning to have children. In many of these diseases, Ashkenazic Jews are more likely to be carriers than the population at large. The list also includes four disorders known to be more prevalent among Sephardic Jews.

†= Information courtesy of the Chicago Center for Jewish Genetic Disorders

• Bloom’s Syndrome

Bloom’s syndrome is a recessive disorder characterized by growth deficiency, sun sensitivity, immunodeficiency, and a predisposition to diabetes and cancer. Genes in people with Bloom’s syndrome are more likely to mutate, causing chromosomes to break. In a survey of Bloom’s syndrome cases in Israel in the 1970s, the carrier frequency of the mutation in the Ashkenazic Jewish population was estimated to be about one in 120. A more recent survey by a team of researchers in New York is estimating a frequency of one in 107 among Ashkenazic Jews, resulting in the disease manifesting itself in about one in 500,000 births.

• Canavan Disease

Canavan disease, which is carried by one in 40 Ashkenazic Jews, affects the brain and central nervous system. Canavan patients have a deficiency of the enzyme aspartocyclase, which is necessary for normal brain development, and therefore they cannot generate myelin, which insulates nerve cells and allows transmission of nerve impulses.

• Congenital Hyperinsulinism (Familial Hyperinsulinism)

Congenital hyperinsulinism (H.I.), also referred to as persistent hyperinsulinemic hypoglycemia of infancy (PHHI), or less commonly as nesidioblastosis, is a rare autosomal recessive genetic defect occurring in the Ashkenazic Jewish population, among others. About one in 100 Ashkenazic Jews is a carrier. The disease affects the body’s sulfonylurea receptors in the pancreas, which control the secretion of insulin to regulate the levels of glucose in the bloodstream.

In individuals with congenital hyperinsulinism, the sulfonylurea receptor system is impaired, so the beta cells of the pancreas keep secreting insulin, regardless of the blood sugar level. This causes dangerously low blood-sugar levels, which can result in seizures, brain damage and death.

• Cystic Fibrosis†

Cystic fibrosis (CF) is a progressive multi-system disorder caused by abnormal function of the CFTR protein, which causes the body to produce thick, sticky mucus in the lungs and digestive system. CF is no more common among Ashkenazi Jews than among other Caucasians, and is in fact one of the most common genetic disorders among Jews and non-Jews alike.

Crohn’s Disease

Could Kashrut Be Partly To Blame for Crohn's Disease?

Some Scientists Eye Genetics, Others Focus on Diet and Environment

Here’s a question that has puzzled scientists for decades: Why is Crohn’s disease — an inflammatory bowel disease (IBD) with the highest incidence among Caucasians — about two to four times more prevalent among Ashkenazi Jews than among non-Jewish whites?

As some researchers continue to look for the answer in our genes, others are proposing a more provocative theory that invokes factors unique to the Jewish diet and to the environment shared by Jews in recent history.

To date, more genes have been linked to Crohn’s than to any other disease. In a single paper published late last year, scientists reported finding 30 new genes associated with Crohn’s, bringing the total of such genes up to 71. (Ulcerative colitis, the other common IBD, isn’t far behind, with 47 genes.)

To determine whether genetics could explain the higher incidence of Crohn’s among Ashkenazi Jews, a team led by Dr. Robert Desnick, dean of genetics and genomic sciences at the Mount Sinai School of Medicine in New York, tested for 22 mutations across 10 of the most established Crohn’s-related genes in nearly 900 Ashkenazi Jews, both with the disease and without.

To the team’s surprise, the mutations found in this group of Jewish subjects were as common and had as great an impact as they did among non-Jews in previous studies.

“What we learned is that there is no difference,” said Desnick, who reported the findings in June in the journal BMC Medical Genetics. “So it has to be something else.”

One possibility is that mutations in some of the other disease-associated genes not tested in Desnick’s study are at higher frequencies among Ashkenazi Jews, or that mutations specific to this community haven’t yet been found. Indeed, the Mount Sinai team discovered two novel mutations in their study, and they are now looking for more, according to the study’s lead author, Inga Peter, a professor of genetics and genomic sciences at the school.

But some researchers contend that science should be looking outside our genes to the environment.

“It doesn’t surprise me that they didn’t find anything in the genes,” said Dr. Joel Weinstock, chief of the division of gastroenterology and hepatology at the Tufts Medical Center. “I think IBD is 90% environmental and 10% genetic.”

Crohn’s disease and colitis were virtually unheard of before the 20th century, and even today they are still quite rare in the developing world. As such, many experts believe the “hygiene hypothesis” — the idea that, absent sufficient exposure to microbes and parasites, the immune system goes awry and starts attacking the body — could be at play in these diseases.

Specifically, Weinstock has his eye on parasitic worms called helminths — which is where keeping kosher [kashrut] and Jewish history enter the picture. According to Weinstock, up through the 1930s, most people had helminths in their guts through contact with animals and contaminated water and food, including pork.

The fact that Jews coming to the United States at the turn of the century were not eating pig products, already adhered to certain cleansing rituals and tended to settle in cities far from animals and animal waste might just have been the perfect mix to set them on a path to their current Crohn’s rates. Weinstock believes that as sanitation improves around the world, other populations will develop IBD at similar rates.

A number of researchers are sympathetic to this line of reasoning. “I think it’s quite plausible,” said Dr. Judy Cho, director of the Inflammatory Bowel Disease Center at the Yale University School of Medicine.

But other experts are wary of connections to kashrut or any other cultural practices. “I think this is highly speculative, and I just don’t buy it,” said Dr. Herbert Virgin, head of pathology and immunology at the Washington University School of Medicine in St. Louis and co-chair of the Crohn’s & Colitis Foundation of America’s Genetics Initiative.

Virgin argues that genetics is still the most probable cause of the Jewish community’s vulnerability to the disease — researchers just haven’t found the mutations yet.

“Kosher practices have been observed for centuries,” Virgin said, “but the uptick in Crohn’s incidence across the Western world is much more recent.”

New Crohn’s Treatments

from the Hadassah Hebrew University Medical Center in Jerusalem and The John Hopkins Inflammatory Bowel Disease Family Unit

Researchers are exploring two possible new treatments — one in trials, the other still speculative — for Crohn’s disease, a genetically linked digestive-tract disorder suffered by an estimated 500,000 Americans, mostly Jews of Ashkenazic descent.

Discovered by Dr. Burrill Crohn in 1932, Crohn’s, which is similar to ulcerative colitis and inflammatory bowel disease, is a chronic disorder that manifests itself as inflammation throughout the digestive or gastrointestinal tracts. It can be found anywhere from the mouth to the anus, although it appears most commonly in the small intestine and colon. Crohn’s is four to five times more likely to occur in Ashkenazic Jews of European descent than in the general population.

One possible treatment involves a preparation of proteins called Alequel. The proteins in Alequel are drawn from a biopsy of the patient’s own colon cells and administered orally. This year, researchers at Hadassah Hebrew University Medical Center in Jerusalem conducted a clinical trial in which 31 patients with moderate to severe Crohn’s were randomly assigned to take oral Alequel or a placebo. Of the two groups, 58% of the patients in the group taking Alequel had a complete remission of symptoms, compared with 29% of those taking the placebo.

Scientists believe that Crohn’s is an autoimmune disorder in which the symptoms are caused when the body attacks itself because it doesn’t recognize certain proteins. They hope that Alequel will make the bowel “conscious” of the antigens it would generally attack, hence ending the symptoms. Because each individual has specific antigens that need to be recognized by the body, they personalize the medicine giving each patient a preparation from his own biopsy.

“We teach the immune system to recognize the self of the immune system,” said Eran Goldin, a professor of Hadassah Hebrew University Medical Center.

The John Hopkins Inflammatory Bowel Disease Family Unit is spearheading another potential solution to the disorder — one that is still in the realm of theory.Teaming up with the Crohn’s and Colitis Foundation of America’s Greater Washington D.C./Virginia Chapter, the Hopkins unit has the ambitious goal of collecting spit samples from 10,000 Ashkenazic Jews in hopes that it will lead to a vaccine or some other preventive measure.

 

Dystonia

Dystonia is a neurological disorder characterized by involuntary muscle contractions, sometimes with intermittent spasms or tremors. It may affect a specific body area or be generalized throughout multiple muscle groups. In 1997, researchers in the United States identified a mutation in the DYT1 gene as being responsible for one of the most serious forms of the disease, called primary torsion dystonia (PTD) or Oppenheim’s Dystonia. This is an early-onset generalized form of dystonia that usually strikes a child around the age of 9 and progresses to commonly involve much of the body’s skeletal muscles. Although relatively rare compared with other forms of dystonia, it is three to five times more prevalent in Ashkenazic Jews than in the general population. Prevalence estimates for the Ashkenazic population vary, ranging from one in 900 to one in 3,000.

• Factor XI Deficiency†

Factor XI is a coagulation enzyme which binds to platelets to stop bleeding. Deficiency of Factor XI causes a (usually) mild bleeding disorder that can become more serious after surgery, tooth extraction or injury.

Factor XI deficiency was originally called hemophilia C, and is also known as plasma thromboplastin antecedent (PTA) deficiency. Hemophilia A is Factor VIII deficiency and hemophilia B is Factor IX deficiency.

• Familial Dysautonomia

Familial dysautonomia (FD, also known as Riley Day syndrome) is a progressive neurogenetic disorder that affects the sensory and autonomic nervous systems. It is estimated that about one in 27 Ashkenazic Jews is a carrier of the FD gene.

Intelligence is usually normal in affected individuals; however, learning disabilities are common.

• Fanconi Anemia

Fanconi anemia is a fatal, recessive disorder that causes bone marrow failure and possible birth defects. One in 87 people of Ashkenazic Jewish ancestry carries a Fanconi anemia gene. If both parents carry a defect in the same Fanconi anemia gene, each of their children has a 25% chance of having the disease. Many do not reach adulthood.

• Gaucher Disease

Gaucher Disease (pronounced “go-shay”) is an inherited disorder caused by a defective gene which prevents the body from producing sufficient amounts of an important enzyme, glucocerebrosidase. That enzyme plays a critical role in the complex process the body uses to remove and recycle worn-out cells. The disease course is quite variable, ranging from no outward symptoms to severe disability and death. Gaucher Disease affects all ethnicities, but Jewish people of Ashkenazi descent are affected in greater numbers. Approximately 1 in 15 are carriers and 1 in 450 have Gaucher Disease. Among the general population, approximately 1 in 100/200 are carriers, while about 1 in 60,000 have the disease.

• Glycogen Storage Disease, Type I†

Glycogen is a carbohydrate that serves as one of the primary fuel reserves for the body’s energy needs. Stores of glycogen power the body during times of fasting and exercise. Glycogen storage disease type I (GSD I) is caused by an enzyme deficiency that prevents the body from completely breaking down the stored glycogen into glucose, which the body metabolizes. This progressive buildup of glycogen can cause impaired growth, bleeding problems and enlarged liver and kidneys. There are two main subtypes of GSD I, caused by mutations in two different genes. GSD Ia is the most common subtype in Caucasians, with a relatively high carrier frequency in Ashkenazi Jews.

• Joubert Syndrome†

There are several types of Joubert syndrome, caused by mutations in different genes. Joubert syndrome 2 is most common in Ashkenazni Jews, and is caused by a mutation in the TMEM216 gene. It is a rare neurological disorder characterized by multiple brain abnormalities, including the absence or underdevelopment of the cerebellar vermis — an area of the brain that controls balance and coordination.

• Maple Syrup Urine Disease†

Maple syrup urine disease (MSUD) is named for the characteristic sweet smell of the urine in affected children. It is caused by genetic mutations that prevent the body from breaking down three specific amino acids in the body. These products then build up to toxic levels, leading to the manifestations of the disease. MSUD is caused by mutations in four different genes. There are several forms of this disease, and the classic severe form is most common in Ashkenazi Jews.

• DLD

Dihydrolipoamide dehydrogenase deficiency is a type of maple syrup urine disease. Beginning in early infancy, it presents as persistent lactic acidosis, or the buildup of amino acids in tissue to toxic levels, with recurrent episodes of vomiting and abdominal pain. This condition is also characterized by poor feeding, vomiting, lethargy, low muscle tone, and developmental delay. If untreated, it can lead to seizures, coma, and death. Dietary modifications can be implemented, but unfortunately are not always effective.

Dihydrolipoamide dehydrogenase deficiency is caused by mutations in the DLD gene, which manufactures a protein necessary for several enzyme complexes which are essential for producing energy in cells.

• Mucolipidosis IV

ML4, first described in 1974, is characterized by the deficiency of a transport protein that plays a crucial role in psychomotor development. One out of 100 Ashkenazic Jews is a carrier.

• Niemann-Pick

Niemann-Pick disease includes several subtypes, two of which (types A and B) stem from a deficiency of acid sphingomyelinase, an enzyme that breaks down a fatty substance called sphingomyelin. As a result of the enzyme deficiency, the unprocessed fat accumulates, mainly in the spleen, lymph nodes and brain. About one in 90 Ashkenazic Jews is a carrier of Niemann-Pick Type A, which is neuro-degenerative and leads to death by 2 or 3 years of age. Type B is a milder disorder that does not affect the brain but results in complication of the liver, spleen, lungs and bone marrow. Additional variants of this enzyme deficiency exist, ranaging between types A and B in degree of severity. These depend on how much active acid sphingomyelinase is present in the cells to process the fats.

• Nonclassical† Adrenal Hyperplasia

NCAH results from a defect in an enzyme necessary for the conversion of cholesterol to cortisol, which is the body’s primary stress hormone. Mutations in this gene are also responsible for the much more severe salt-wasting and simple virilizing types of adrenal hyperplasia which present shortly after birth. The non-classical type presents at any time after birth and exhibits much milder symptoms.

• Nonsyndromic Hearing Loss and Deafness†

Nonsyndromic hearing loss refers to non-progressive mild-to-profound sensorineural hearing impairment (which means the impairment stems from problems within the ear’s nerves) that is not associated with any other medical problems or physical abnormalities. There are many known causes of nonsyndromic hearing loss, many of which are genetic. DFNB1 accounts for fifty percent of all congenital, autosomal recessive nonsyndromic hearing loss. DFNB1 is most often caused by mutations in the GJB2 gene, which encodes the connexin 26 protein, and less frequently by mutations in the GJB6 gene, which encodes the connexin 30 protein. One specific mutation in the GJB2 gene is found most commonly in Ashkenazi Jews.

• Spinal Muscular Atrophy†

Spinal muscular atrophy (SMA) causes degeneration of motor neurons, the nerve cells in an area of the spinal cord known as the anterior horn. When the motor neurons break down, so does the link between the brain and the voluntary muscles — those which we control. As the link between the brain, spinal cord and muscles breaks down, the muscles that are used for activities such as crawling, walking, sitting up and moving the head are used less and less and become weaker, or shrink (atrophy).

• Tay-Sachs:

•Infantile Onset Tay-Sachs

Tay-Sachs disease is caused by the congenital absence of a vital enzyme, Hexosaminidase-A. Without the enzyme, the body cannot break down one of its fatty substances, which builds up abnormally in the brain and progressively impairs the central nervous system. The gene that causes the infantile form of the disease is present in about one in 27 Ashkenazic Jews in America. About one in 250 Sephardic Jews and people of non-Jewish descent are also carriers.

•Late Onset Tay-Sachs

Late onset Tay-Sachs (LOTS) occurs in adolescents and adults and is the result of having only small quantities of Hexosaminidase-A rather than a complete absence. Since the first cases were described in the 1970s, the disease has been diagnosed in fewer than 200 patients. The prevalence of the late onset gene among Ashkenazic Jews is not known.

• Torsion Dystonia†

Torsion dystonia (DYT1) is a progressive movement disorder characterized by sustained, twisting muscle spasms. With time, the frequency and duration of these spasms increases, leading to joint contractures and progressive disability. Spasms may be slow or rapid shock-like jerks, which are repetitive and may be rhythmic, and which are often made worse by voluntary movement, stress and fatigue.

Individuals with torsion dystonia have normal early development and normal intelligence. The disease is caused by a mutation in the TOR1A gene, but the underlying mechanism of the disorder is not well understood. Researchers believe that it may be caused by altered communication between the neurons in the brain.

• Usher Syndrome†

Usher syndrome comprises a group of diseases with a distinctive combination of hearing and progressive vision loss. The genes related to Usher syndrome provide instructions for making proteins that play important roles in normal hearing, balance, and vision. They function in the development and maintenance of hair cells, which are sensory cells in the inner ear that help transmit sound and motion signals to the brain. In the retina, these genes are also involved in determining the structure and function of light-sensing cells called rods and cones. Most of the mutations responsible for Usher syndrome lead to a loss of hair cells in the inner ear and a gradual loss of rods and cones in the retina. Degeneration of these sensory cells causes hearing loss, balance problems, and vision loss.

• Nemaline Myopathy†

There are several types of nemaline myopathy, caused by mutations in different genes. It primarily affects skeletal muscles, which are muscles that the body uses for movement. It causes muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face, neck, and limbs. This weakness can worsen over time. The muscle problems associated with nemaline myopathy are caused by an abnormal buildup of thread-like structures (nemaline bodies) in certain muscle tissue.

• Walker-Warburg Syndrome†

Walker-Warburg syndrome (WWS) is a type of congenital muscular dystrophy characterized by brain and eye abnormalities and muscle disease, particularly weakness and atrophy of voluntary muscles. Mutations in different genes lead to different forms of WWS, and the forms vary in regard to muscles involved, ages of onset, and severity.

SEPHARDI DISORDERS

• Beta Thalassemia†

Red blood cells rely on the protein hemoglobin to transport oxygen from the lungs to the rest of the body. When genetic mutations prevent the production of the beta chain, one of two structures necessary to complete a hemoglobin protein, red blood cells aren’t produced in sufficient quantities, leading to anemia. Beta thalassemia is the most common inherited single gene disorder in the world. This disorder covers a spectrum of anemias, ranging in severity from mild (intermedia) to severe (thalassemia major or Cooley’s anemia). Individuals with thalassemia intermedia have some residual beta chain production, whereas those with thalassemia major have none. Beta thalassemia is most frequently seen in humid climates with a high incidence of malaria, such as Africa, the Mediterranean, the Middle East and Asia. This is due to the fact that being a carrier is thought to confer some resistance to malaria.

• Familial Mediterranean Fever†

White blood cells require a protein called pyrin (also known as marenostrin) to help regulate inflammation, which in turn is a site-specific process that fights infection and repairs tissue. When mutations on the MEFV gene reduce the amount of pyrin manufactured, the body loses control of the inflammation process, which is then prolonged or inappropriate to the body’s condition. Familial Mediterranean fever (FMF) is an episodic condition which can also result in amyloidosis, or potentially dangerous buildup of protein in organs and tissues. It occurs most commonly in untreated Jews of Northern African and Iraqi ethnicity and in patients of Turkish heritage.

• G6PD Deficiency†

When the body doesn’t produce glucose-6-phosphate dehydrogenase (G6PD), an enzyme found in red blood cells, the red blood cells break down faster than they can be replenished. This results in hemolytic anemia, which can vary in severity from lifelong anemia to rare bouts to no symptoms. The anemia can also be induced by certain oxidative drugs, infections, severe stress or ingestion of fava beans. (The most severe form of the disorder is called favism, after the legume.)

G6PD deficiency is the most common known human enzyme deficiency, most frequently in areas with a high incidence of malaria, such as Africa, the Mediterranean and Southeast Asia. This is due to the fact that being a carrier for G6PD deficiency is thought to confer some resistance to malaria. Because the genetic mutations are sex-linked, most cases occur in males. Females who carry one mutation are generally not affected because the copy of the gene on the other X chromosome is functioning normally and compensates for the defect. Affected males can pass the mutation to a daughter, but it is unlikely that she would have symptoms, for this reason.

• Glycogen Storage Disease, Type III†

Glycogen is a carbohydrate that serves as one of the primary fuel reserves for the body’s energy needs. Stores of glycogen power the body during times of fasting and exercise. Glycogen storage disease type III (GSD III) is caused by an enzyme deficiency that prevents liver and/or muscle tissue from completely breaking down the stored glycogen into glucose, which the body metabolizes. This progressive buildup of glycogen can cause muscle wasting and organ failure. In the Sephardi community, GSD III is primarily found among Jews of North African descent.

 

Help for Jewish Genetic Diseases

Where To Go for Support and Help published August 12, 2011; Jewish Forward.

BACHMANN-STRAUSS DYSTONIA & PARKINSON FOUNDATION

551 Fifth Avenue, Suite 520

New York, NY 10176

(212) 682-9900

www.dystonia-parkinsons.org

Bachmann-Strauss Dystonia & Parkinson Foundation funds scientific research seeking to understand the causes of, and to find potential cures for, the movement disorders dystonia and Parkinson’s disease.

BLOOM’S SYNDROME FOUNDATION
7095 Hollywood Boulevard #583
Los Angeles, CA 90028

www.bloomssyndrome.org

info@bloomssyndrome.org

The Bloom’s Syndrome Foundation funds research aimed at the development of a therapy for Bloom’s syndrome and the prevention of its complications, primarily the significant risk of developing cancers at young ages.

CANAVAN FOUNDATION
450 West End Avenue, #6A
New York, NY 10024
Call or Fax: (866) 907-1847

www.canavanfoundation.org

info@canavanfoundation.org

The Canavan Foundation works to prevent Canavan disease through education and testing, and supports research to find a treatment for the disease.

CANAVAN RESEARCH FOUNDATION

88 Route 37
New Fairfield, CT 06812
(203) 746-2436
Fax: (203) 746-3205

www.canavan.org

info@canavan.org

The Canavan Research Foundation supports research aimed at curing Canavan disease and other genetic brain diseases.

CENTER FOR JEWISH GENETIC DISEASES

Mount Sinai Medical Center
New York, NY 10029
(212) 659-6774

www.mssm.edu/jewish_genetics/

The Center for Jewish Genetic Diseases works to improve the diagnosis and treatment of Jewish genetic diseases, as well as the counseling of patients and their families, and to conduct intensive research to combat these diseases.

CHICAGO CENTER FOR JEWISH GENETIC DISORDERS

Ben Gurion Way
30 South Wells Street
Chicago, IL 60606
(312) 357-4718

www.jewishgenetics.org/

jewishgeneticsctr@juf.org

The Chicago Center for Jewish Genetic Disorders works to provide public and professional education and to empower community members to seek information and prevention strategies for Jewish genetic disorders and hereditary cancers.

CHILDREN’S FUND FOR GLYCOGEN STORAGE DISEASE RESEARCH

917 Bethany Mountain Road
Cheshire, CT 06410
(203) 272-CURE

www.curegsd.org

info@curegsd.org

The Children’s Fund for Glycogen Storage Disease Research raises money for research aimed at finding a cure for glycogen storage disease, type 1.

CURE TAY-SACHS FOUNDATION

12730 Triskett Road
Cleveland, OH 44111
(216) 812-5855
Fax: (216) 251-6728

www.curetay-sachs.org/

questions@curetay-sachs.org

The Cure Tay-Sachs Foundation funds research into seeking treatments and a cure for Tay-Sachs disease.

DYSAUTONOMIA FOUNDATION

315 West 39th Street, Suite 701
New York, NY 10018
(212) 279-1066

www.familialdysautonomia.org

info@famdys.org

The Dysautonomia Foundation supports medical treatment, research, public awareness and social services for the benefit of people who have familial dysautonomia.

DYSTONIA MEDICAL RESEARCH FOUNDATION

1 East Wacker Drive, Suite 2810
Chicago, IL 60601
(312) 755-0198
(800) 377-DYST
Fax: (312) 803-0138

www.dystonia-foundation.org

dystonia@dystonia-foundation.org

The Dystonia Medical Research Foundation seeks to advance research into treatments for dystonia, promotes awareness and education, and provides support to affected individuals and their families.

FANCONI ANEMIA RESEARCH FUND

1801 Willamette Street, Suite 200
Eugene, OR 97401
(541) 687-4658
(888) FANCONI
Fax: (541) 687-0548

www.fanconi.org

info@fanconi.org

The Fanconi Anemia Research Fund works to find effective treatments for Fanconi anemia and to provide education and support services to affected families.

FD HOPE

121 S. Estes Drive, Suite 205D
Chapel Hill, NC 27514
(919) 969-1414
Fax: (919) 969-1415

www.fdhope.org

info@fdhope.org

FD Hope funds research into potential treatments and cures for familial dysautonomia, provides support to FD families and patients, and promotes education and awareness of the disease.

GENETIC DISEASE FOUNDATION

1425 Madison Avenue, Box 1498
New York, NY 10029
(212) 659-6704

www.geneticdiseasefoundation.org

gdf@mssn.edu

The Genetic Disease Foundation provides support for research, education and efforts aimed at the prevention of genetic diseases.

JACOB’S CURE

P.O. Box 52
Rye, NY 10580
(914) 502-4249

www.jacobscure.org

info@jacobscure.org

Jacob’s Cure supports research into treatments for Canavan disease.

JEWISH GENETIC DISEASE CONSORTIUM

450 West End Avenue
New York, NY 10024
(855) 642-6900

www.jewishgeneticdiseases.org

info@jewishgeneticdiseases.org

The Jewish Genetic Disease Consortium brings together organizations that combat Jewish genetic diseases in order to strengthen education and awareness, as well as to encourage and facilitate genetic testing for carrier status.

JOUBERT SYNDROME & RELATED DISORDERS FOUNDATION

414 Hungerford Drive, Suite 252
Rockville, MD 20850
(614) 864-1362

www.joubertfoundation.com

The Joubert Syndrome & Related Disorders Foundation is an international network of parents who use their knowledge and experience to offer support for those with Joubert Syndrome, and help raise public awareness about the disorder.

ML4 FOUNDATION

719 East 17th Street
Brooklyn, NY 11230
(877) 654-5459

www.ml4.org

The ML4 Foundation supports medical research dedicated to developing effective treatments and a cure for Mucolipidosis type IV.

NATIONAL GAUCHER FOUNDATION

2227 Idlewood Road, Suite 6
Tucker, GA 30084
(800) 504-3189
Fax: (770) 934-2911

www.gaucherdisease.org

ngf@gaucherdisease.org

The National Gaucher Foundation funds research into Gaucher disease, promotes education and awareness, supports legislative issues and provides outreach programs.

NATIONAL NIEMANN-PICK DISEASE FOUNDATION

P.O. Box 49
401 Madison Avenue, Suite B
Fort Atkinson, WI 53538
(877) 287-3672
(920) 563-0930
Fax: (920) 563-0931

www.nnpdf.org

nnpdf@nnpdf.org

The National Niemann-Pick Disease Foundation supports research to find a cure or treatments for all types of Niemann-Pick disease and provides support services to individuals and families affected by the disease.

NATIONAL TAY-SACHS AND ALLIED DISEASES ASSOCIATION

2001 Beacon Street, Suite 204
Brighton, MA 02135
(800) 906-8723
Fax: (617) 277-0134

www.ntsad.org

info@ntsad.org

The National Tay-Sachs and Allied Diseases Association promotes the prevention and treatment of Tay-Sachs in all its forms as well as other related genetic disorders, and provides support services to affected families and individuals.

THE RARE PROJECT

24701 La Plaza, #201
Dana Point, CA 92629
(949) 248-7273

www.rareproject.org

www.crdnetwork.org

info@rareproject.org

The RARE Project mobilizes rare disease patients, parents and patient-advocates to bring about more effective and efficient development of rare-disease therapies.

SHARSHERET

1086 Teaneck Road, Suite 3A
Teaneck, New Jersey 07666
(866) 474-2774
(201) 833-2341
Fax: (201) 837-5025

www.sharsheret.org

info@sharsheret.org

Sharsheret, Hebrew for “chain,” supports young Jewish women and their families who are at risk for, or facing, breast cancer. It helps foster connections with networks of peers, health professionals and related resources.

SPINAL MUSCULAR ATROPHY FOUNDATION

888 Seventh Avenue, Suite 400
New York, NY 10019

NY Residents: (646) 253-7100
(877) FUND-SMA
Fax: (212) 247-3079
www.smafoundation.org

info@smafoundation.org

The Spinal Muscular Atrophy Foundation aims to find a cure or treatment for SMA by raising awareness of the disease at all levels of society, increasing government support and funding, and spurring on drug development.

UNITED LEUKODYSTROPHY FOUNDATION

2304 Highland Drive
Sycamore, IL 60178
(800) 728-5483
Fax: (815) 895-2432

www.ulf.org

office@ulf.org

The United Leukodystrophy Foundation supports individuals suffering from various types of leukodystrophies, such as Canavan disease, and provides assistance for their families. It also helps with research into these diseases.

VICTOR CENTER FOR THE PREVENTION OF JEWISH GENETIC DISEASES

Albert Einstein Medical Center
5501 Old York Road, Levy 2 West
Philadelphia, PA 19141
(877) 401-1093

www.victorcenters.org

info@victorcenters.org

The Victor Center for Jewish Genetic Diseases provides education, genetic counseling and carrier screening for Jewish genetic diseases. Victor Centers are located in Philadelphia, Boston and Miami.

YESHIVA UNIVERSITY PROGRAM FOR JEWISH GENETIC HEALTH

Yeshiva University
500 West 185th Street, BH 707
New York, NY 10033
(718) 430-4156

www.yu.edu/genetichealth

jewishgenetichealth@yu.edu

The Program for Jewish Genetic Health at Yeshiva University is a centralized resource for the Jewish community and future generations, addressing Jewish genetic health concerns from before birth to old age.


Clinical Guidelines and Standards of Cares

Clinical Guidelines and Standards of Cares For Hepatitis

Prostate Calculator for Prostate Cancer


ACUTE HEPATITIS DIAGNOSIS AND MANAGEMENT

Useful Websites for Hepatitis diagnosis, management : and Standards of Care.
The American Association for the Study of Liver Diseases www.aasld.org/
The American Liver Foundation http://www.liverfoundation.org/
American College of Gastroenterology http://www.acg.gi.org/
American Hepato-Pancreato-Biliary Association http://www.ahpba.org/
European Association for the Study of the Liver http://www.easl.ch/
International Liver Transplantation Society http://www.ilts.org/
Hepatitis Foundation International http://www.hepfi.org/
The Viral Hepatitis Prevention Board http://www.vhpb.org/
SIGN (Safe Injection Global Network) http://www.injectionsafety.org/

HEPATITIS MANAGEMENT GUIDELINES FROM A TO E FROM THE WORLD GASTRENTEROLOGY ORGANIZATION WITH WEBSITE CITATIONS

OMGE Practice Guideline:
Management of Acute Viral Hepatitis

1. Definition
Acute viral hepatitis (AVH) is a systemic infection predominantly affecting the liver. AVH is most often caused by viruses which are hepatotropic (hepatitis A, B, C, D and E). Other viral infections may on occasion affect the liver (cytomegalovirus (CMV) , Herpes Simplex, Coxsackie virus, Adenovirus). Whereas hepatitis A and E are self-limiting, infection with hepatitis C and less so with hepatitis B mainly become chronic.

2. Introduction & Key Points
Possibly the key difference between this OMGE guideline and all other published work dealing with Acute Viral Hepatitis is an awareness of its potential for mismanagement.

After all, the single most important issue as regards the management of Acute Viral Hepatitis is that in the great majority of cases treatment should be supportive and does not require hospitalization or medication. Surgical intervention (during the acute state or because of misdiagnosis) may be dangerous.

Anecdotal evidence suggests there is often mismanagement of this condition - especially in low resourced settings.

Whereas most acute infections are asymptomatic, when symptoms are present they appear to be similar for all 5 virus varieties. It is important toestablish the virus involved as risks of progression differ.


• Hepatitis A: self-limiting. The fulminant hepatic failure (FHF) rate is very low; there is a 1% fatality rate with an age>40yr
• Hepatitis B: self-limiting in 95% of cases (adults only), not so in those < 5 yr
• Hepatitis C: self-limiting in 20%–50% of cases (>90% if treated with interferon alpha monotherapy)
• Hepatitis D: self-limiting if HBV is self-limiting
• Hepatitis E: self-limiting. The overall case fatality in FHF is 1–3%; in pregnant women this is 15–25%


For the most part only supportive treatment is required. If HAV is endemic Hepatitis A infection can be excluded, as earlier infection induces lifelong immunity.

A second important issue is the identification of risk groups. In pregnancy for example it is very important to exclude HEV. Similarly, acute hepatitis is more dangerous in adults than in children, particularly when > 40 yr, more so if there is a background of chronic liver disease. In all cases risk groups for severe hepatitis should be identified - usually this affects older adults and those with underlying chronic liver disease. Acute fulminant hepatitis may occur at any age.


Key points to remember:

a.. An acute "hepatitis" maybe caused by a virus, a toxin or be the first manifestation of a chronic liver disease
b.. Acute Viral Hepatitis is almost always self-limiting
c.. In almost every case it is best to do nothing (except to stop medication such as OCP (oral contraceptive pill)
d.. No role for vitamins - especially in developing countries a lot of I.V. vitamins are given unnecessarily
e.. No role for restriction of proteins in uncomplicated acute hepatitis - in developing countries patients may already be deprived of proteins; this leads to protein deficiency with its associated complications
f.. Start exercise as soon as the patient feels fit to do so, there is no need to keep patients in bed
g.. Raised serum alanine transaminase (ALT) is the best indicator of acute hepatic injury but does not reflect disease severity (bilirubin and international Normalized Ratios (INR) are required for this)
h.. All AHV forms show the same symptoms
i.. Take account of endemicity eg: Hepatitis A predominantly affects children in endemic areas
j.. Ascertain if it is an acute infection or a flare-up of a silent chronic infection
k.. Other chronic liver diseases may present acutely, for example autoimmune hepatitis
l.. Consider transmission and thus prevention and vaccination where appropriate
m.. In a pregnant woman with HBV, protect the newborn infant with HB vaccine and HBIG at birth

Acute HCV - It is important to test for HCVRNA and anti-HCV immediately

a.. If both are present ® likely flare up of chronic HCV
b.. If only HCVRNA is present ® likely acute HCV, follow up for development of anti-HCV

The onset of drowsiness and/or a coagulopathy in a patient with acute viral hepatitis is always sinister

3. Acute Hepatitis A
3.1. Pathogenesis and natural cause Hepatitis A virus (HAV) is an RNA containing virus of the picornaviridae
type. The key feature is that it is a self-limiting disease. Management of HAV should therefore be supportive. The average HAV incubation time is 28 days and can vary from 15–45 days.

HAV Infection is self limiting and does not require treatment; vaccinate contacts (particularly in low incidence areas).

There is no chronic infection, HAV infection induces life long immunity. Some people with HAV will have relapses after 6-9 months.

The risk of fulminant hepatitis failure is very rare (0.01–0.1%) but increases with age and with pre-existing liver disease. In those >40 yr there is a 1% fatality rate.

3.2. Epidemiology - Prevalence and Incidence There are an estimated 1.5 million acute hepatitis A casesannually worldwide, or depending on the local endemicity around 150/100,000 –most of these occur in areas with poor hygiene and a poor sanitation
infrastructure.

Prevalence and Incidence of HAV infection are directly related tosocio-economic conditions. Infection occurs predominantly inchildhood. Typically more than 90% of children in developing countries areinfected with HAV virus.

More than 90% of children in developing areas have been infected with HAV (life long immunity)

3.3. Risk Factors
Transmission
HAV is found in the stool of persons with acute HAV in the pre-symptomaticand early phases of the disease. HAV is usually spread between persons byputting something in the mouth that has been contaminated with the stool from anHAV infected person. This means HAV transmission is fecal-oral. Mosttransmissions take place from contact with a household member, tourist travel to an endemic area , from a sex partner who has HAV, from an infection in anindividual preparing food or with babies in
nurseries.

HAV transmission is fecal-oral
Poor hygiene and poor sanitation pose the greatest risks
Risk Groups/Circumstances for HAV:

a.. Children living in poor sanitation and low hygiene areas
b.. Children living in HAV high prevalence areas
c.. Those participating in anal sex
d.. Illegal intravenous drug users (homeless)
e.. Poor sanitation
f.. Consumers of high risk foods (e.g. raw shellfish)
g.. Day-care employees and family of children in day care
h.. People travelling to endemic areas

3.4. Diagnosis and differential diagnosis All forms of acute viral hepatitis present the same way initially. HAV virus is reliably diagnosed by IgM anti-HAV (the presence of IgG antiHAV enotes past infection). Persistent IgM anti-HAV can sometimes be detected in autoimmune hepatitis In children the illness is usually asymptomatic. Inadults HAV infection is usually symptomatic.

Principal symptoms are:

a.. Jaundice (yellowing of the skin and eyes)
b.. Fatigue
c.. Abdominal pain
d.. Loss of appetite
e.. Nausea
f.. Diarrhea
g.. Fever
h.. Dark urine
i.. Relapse with cholestasis or serum sickness

3.5. Acute hepatitis management
The subjective impression of the patient should guide thedoctor's attitude. Neither hospital admission, quarantine or bed rest ormedication (e.g. vitamin applications, dietary restrictions, blood transfusions) are necessary.

Treatment should be conservative and supportive. There is no specific medication for HAV infection. Hygiene is very important, always wash hands after bathroom use.

Management should be focused on treating symptoms and on identifying the small proportion of those at special risk of developing fulminant hepatic failure.

Those > 40 yr and those with underlying chronic liver disease are most at risk.

Contacts should be vaccinated.

OCP and Hormone replacement therapy (HRT) should be stopped to avoid cholestasis.

Alcohol consumption is not advised.

3.6. Prevention
There are a number of inactivated vaccines on the market

Vaccination for pre-exposure prophylaxis (for example VAQTA from Merck or HAVRIX from GSK) provides long term protection for up to 20 years. Vaccination for post exposure prophylaxis should be given as early as possible.

3.7. The Future

Improving sanitation and water supplies are the most important goals to help prevent HAV infection (and many other infections!)

Key items are:

a.. Building a better public health infrastructure
b.. Improve sanitation and water supplies
c.. Health visitor action programmes (education and training, hygiene and handwashing)
d.. Development of easy and low-cost diagnostic kits
e.. Pre-exposure vaccination for those at risk (travellers, military personnel, male homosexuals, day care employees)
f.. Post-exposure vaccination to contacts of acute HAV
g.. Always check for Hep B + immunity and vaccinate when needed (WHO advocates universal vaccination for hepatitis B)

3.8. Further Information
Hyperlinks for HAV:


3.9. Summary
The clinical course of acute hepatitis A is indistinguishable from other types of acute viral hepatitis. However, if HAV IgM is positive it is not necessary to check for other causes of Acute Viral Hepatitis.

Symptoms typically include fever, malaise, anorexia, nausea and abdominal discomfort and sometimes diarrhea, followed by dark urine and jaundice. The severity of disease and mortality increases in older age groups. The convalescence following hepatitis A may be slow, and is characterized by fatigue, nausea and lack of appetite. Complications of hepatitis A include relapsing hepatitis with or without a cholestatic component and fulminant hepatitis. Fulminant hepatitis occurs in approximately 0.01% of infections
and is characterized by persistent nausea, vomiting and bruising with rapid deterioration in level of consciousness and in liver function. There is a very high fatality rate. Chronic infection with HAV does not occur. No specific antiviral therapy is currently available. Therefore only supportive measures are indicated, abstinence from alcohol may be advised. The subjective impression of the patient should guide the doctor's attitude. No measures such as quarantine, long term hospitalisations, vitamin applications (except in the case of a diagnosed avitaminosis), other "supportive" medications or blood transfusions should be administered to
patients.

4. Acute Hepatitis B
4.1. Pathogenesis and natural cause Hepatitis B virus (HBV) is a DNA containing virus of the Hepadnaviridae type. The virus is present in most body fluids of individuals with acute or chronic hepatitis and in inactive carriers. It is transmitted by parenteral
route for example as a result of sharing needles. Oral transmission is unlikely. Sexual contact is a frequent cause. Unvaccinated healthcare workers are a high-risk group because of the risk of needlestick Injury. In endemic areas Hepatitis B is often transmitted vertically or horizontally amongst young children playing together (biting and scratching)

HBV incubation time is 60 days and can vary from 28–160 days.

Approximately 30% of infections among adults present as icteric hepatitis and 0.1–0.5% develop fulminant hepatitis.

When fulminant hepatitis occurs the immune response to infected hepatocytes is overwhelming and there is often no evidence of viral replication. Testing for HBsAg may be negative ; hence the need for further anti HBc (IgM)
testing.

Infection resolves in >95% of adults with loss of serum HBsAg and subsequently the appearance of anti-HBs. Natural immunity is characterised by detecting anti-HBc plus anti-HBs.

HBV infection leads to one of four outcomes:

a.. Recovery after acute infection (>95% in previously healthy adults <40 yr)
b.. Fulminant hepatitis
c.. Chronic Hepatitis B
d.. Inactive carrier state

The outcome of HBV infection depends on immunological factors and possibly in part on virus characteristics. The age at which the infection occurs plays a very important role. When perinatally acquired and in infants under 1 yr old, chronic infection will develop in 80–90% of cases; in children between 1–5 yr 30–50% will go on to develop chronic infection. By comparison, 30–50% of adults who become actively infected with HBV are symptomatic but only 2–6% of these adults develop chronic infection.

95–99% of previously healthy adults with acute HBV infection recover completely

4.2. Epidemiology – prevalence and incidence WHO estimates that over 5 million cases of acute hepatitis B infection occur
annually. The incidence of HBV infection and patterns of transmission vary greatly throughout the world according to the endemicity, with rates between 0.1–120/100,000.

The average annual incidence of acute hepatitis B for Europe is 20 per 100,000 population. The resulting estimate is approximately 950,000 people infected every year. Of theses 90,000 will become chronically infected of whom 20,000 will die from cirrhosis or liver cancer.


Hepatitis B virus infection is a global health problem. Two billion people have been infected worldwide; 360 million are chronically infected; over 520,000 die each year (50,000 from acute hepatitis B and 470,000 from cirrhosis or liver cancer).

The prevalence and incidence of HBV varies greatly in different areas of the world.

HBV is most prevalent in China, Southeast Asia, sub-Saharan Africa, most Pacific Islands and the Amazon basin. There are also high prevalence rates in the circumpolar region (North Pole).

In the developed world Hepatitis B is an illness affecting mostly high-risk adults, in the world's poorer areas it is highly endemic and widely present
in children. All vaccination programmes are best focused on immunization in
infants and children because at this age chronic infection can be prevented.

In the western world the focus has been on vaccination of adults in high
risk groups such as male homosexuals and healthcare workers. The WHO
advocates universal vaccination.

4.3. Risk factors & transmission
Adult Risk groups for acute HBV infection

a.. Health care workers
b.. Policemen
c.. Migrant populations
d.. Asylum seekers and refugees
e.. Military personnel
f.. Tourists & Students (unsafe sex)
g.. Any unsafe sex
h.. Injecting drug users
i.. Hemodialysis patients (always become carriers)
j.. Firemen
k.. People in prison
l.. Persons receiving unsafe injections
m.. Persons receiving unscreened blood transfusions
n.. Unsafe piercing, tattooing, acupuncture, tribal scarification, circumcision


Re-use of injection equipment may cause up to 20 million HBV infections each year

Transmission routes
HBV is transmitted through body fluids such as blood, saliva, semen, (breast milk is controversial). The route can be :

a.. Perinatal (from mother to baby at birth) (vertical)
b.. From child to child (horizontal)
c.. From unsafe injections and transfusions (parenteral)
a.. Unsterile instruments, tattoo needles, dental equipment, other sharp objects eg: in scarification, female circumcision
d.. Sexual contact (sexual)
a.. unprotected sex (whether heterosexual or homosexual)

HBV is transmitted through either skin puncture or mucosal contact with bloodor other infectious body fluids. The virus is found in highest concentrations inblood and serous exudates.

4.4. Diagnosis and differential diagnosis
The most common symptom of hepatitis infection is fatigue or tiredness.

Fever, muscle, joint aches and serum sickness syndrome may be present in the prodrome of acute HBV. Some people will notice that their urine becomes darker and their skin will show a yellowish tint (Jaundice).

Principal symptoms Less common symptoms
Fatigue and tiredness Weight loss
Malaise Depression
Jaundice Anxiety, irritability
Fever Headaches
Muscle & joint aches Sleep disturbance
Discomfort in the abdomen on the right side
Itching
Nausea and diarrhea
Appetite loss

Serological tests are available commercially for a variety of antigens and antibodies associated with HBV infection.

In the case of a suspected acute infection HBsAg will be positive and should be cleared within 3–6 months after the acute onset (always do a follow-upre-check).

It is impossible to distinguish acute hepatitis B from a flare-up of chronichepatitis B without follow-up - this is essential in all cases.

4.5. Acute Hepatitis B Management
A spontaneous recovery after acute infection with HBV occurs in 95%-99% of previously healthy adults. Antiviral therapy is not likely therefore to improve the rate of recovery and is not required unless accompanied by a non-hepatic complication such as periarteritis nodosa. In such cases and in the case of immunocompromised persons (e.g. with chronic renal failure) anti viral therapy with lamivudine may be recommended.

In fulminant hepatitis meticulous intensive care may improve survival but orthotopic liver transplantation is the only proven therapy that improves patient outcomes.

Full recovery with development of anti-HBs provides long term protection.

4.6. Prevention
Vaccination (available since the early 1980s) continues to be the best way for dealing with the condition, Hepatitis B is preventable and universal vaccination is probably best - certainly in countries where the prevalence is high.

Two types of Hepatitis B vaccine are available.

a.. Recombinant or genetically engineered vaccines are made using HBsAg synthesized in yeast (saccharomyces cerevisiae) or in mammalian cells into which the HBsAg gene has been inserted. Both consist of a suspension of HB surface antigen. Each country has different preparations.
b.. Human plasma-derived vaccines (PDV) are prepared from purified HBsAg from the plasma of persons with chronic HBV infection. There are more than 15 different PDVs licensed worldwide.

There are no significant differences in safety, immunogenicity or efficacy between these two types of vaccines.

HBV vaccines will generate protective (>10 IU/ml) levels of antibodies to HBsAg in 95% of children and 90% of adults. Re-vaccination works in 80% of persons who did not respond to primary vaccination. Revaccination of non-responders is not recommended after two series of vaccinations (6 doses).

A distinction can be made between Pre-Exposure and Post-Exposure Vaccination.

4.6.1. Pre-Exposure Vaccination
This is especially relevant in high risk groups.

There are a number of recombinant vaccines – they are similar in efficacy but dosing may differ, for example:

Recombivax-HB (10 mg of HBsAg)
Child<11 yr HBsAg negative mother 2.5 mg (babies at birth)
Child<11 yr HBsAg positive mother 5 mg
Child 11–19 5 mg
Immunocompetent adult 10 mg
Immunosuppressed person 40 mg
Renal dialysis person 40 mg

Engerix-B (20 mg of HBsAg)
Child <10 yr 10 mg (babies at birth)
Child >10 yr 20 mg
Adult 20 mg
Immunosuppressed person 40 mg
Dialysis person 40 mg

4.6.2. Post-Exposure Vaccination
A combination of Hepatitis B Immunoglobulin (HBIG , where available) ) and HBV vaccine is recommended. If HBIG is available (in most countries it is not) it should be given to all children of HBs+ mothers at the time of delivery.

This is of especial relevance in neonates where an immediate start of postexposure immunisation will prevent neonatal infection in infants of HBV infectedmothers. It is important to vaccinate within 24 hours. There is no evidence of aprotective effect if the vaccine is given > 7 days after delivery.

Direct exposure (percutaneous inoculation or transmucosal exposure) to HBsAgpositive body fluid (e.g. needlestick Injury):

a.. HBIg single intramuscular dose of 0.06 ml/kg (as soon as possible)
b.. Followed by complete course of HBV vaccination (within 7 days)

Direct Exposure following sexual contact with a patient with HBV

a.. HBIg single intramuscular dose of 0.06 ml/kg (within 14 days)
b.. Followed by complete course of HBV vaccination (do not wait!)

4.6.3. Contraindications & side-effects
There are very few contraindications.

a.. Severe allergic reaction to previous doses
b.. Severe allergic reaction to baker's yeast (as used in making bread), plasma-derived HBV vaccine can be used instead
c.. Fever >38.5°C

The following are not contraindications to administering HBV vaccine:

a.. Any minor illness such as respiratory tract infection or diarrhea with
a temperature below 38.5°C
b.. Allergy or asthma
c.. Treatment with antibiotics
d.. HIV Infection, more information is, however, needed on the efficacy of HBV vaccination in neonates or infants that are infected with HIV.
e.. Breastfeeding
f.. History of seizures
g.. Chronic illnesses
h.. Stable neurological conditions
i.. Prematurity or low birth weight
j.. History of jaundice at birth
k.. Pregnancy (although not generally recommended)

4.6.4. Vaccine safety & quality
Thermostability

a.. HBV vaccines should never be frozen. The freezing point of HBV vaccine is -0.5°C.
b.. HBV vaccine is stable for at least 4 years if stored between 2–8°C.
c.. HBV vaccines are relatively heat stable and have only a small loss of potency when stored for 2–6 months at a temperature of 37°C.

The Shake Test
If you see HBV vaccine frozen then it is damaged. However, a vaccine may also have been frozen earlier and then thawed again. The Shake test can be used to check if the vaccine has been damaged by earlier freezing.

a.. Compare the vaccine that you suspect has been frozen and thawed with vaccine from the same manufacturer that you are sure was never frozen.
b.. Shake the vaccine vials
c.. Look at the contents carefully
d.. Leave the vaccines to stand side by side for 15–30 minutes for any
sediment to settle
e.. Do not use it if a sediment settles below an almost-clear liquid

4.7. The Future
More potent adjuvants may reduce the number of vaccinations from 3 to 2 or 1 jab. New childhood vaccines are now being developed.

New childhood vaccines with more potent adjuvants are now being developed.

4.8. Further Information
Hyperlinks for Acute HBV

4.9. Summary – sequence of serum testing in a suspected case of acute hepatitis

a.. Always test for HAVIgM
b.. In the East add test for HEV (if available – maybe a diagnosis of exclusion)
c.. If a risk factor is present test for HBsAg and for HCVRNA (plus anti HCV)
d.. Test Sequence
1.. HBc-IgM and HBsAg
2.. HAVIgM
3.. Anti-HCV
4.. HCV-RNA/
5.. Anti HEV (only if the above are negative)


5. Acute Hepatitis C
5.1. Pathogenesis and natural cause
Hepatitis C virus (HCV) is an RNA containing virus of the Flaviviridae type.

The incubation period varies between 14 to 160 days with a mean of 7 weeks.

Most acute and chronic infections are asymptomatic. If symptoms occur they usually last 2-12 weeks.

The lack of a strong T-lymphocyte response is responsible for the high rate of chronic infection. Anti HCV is not protective (non neutralizing antibodies).

Unlike the other AHV forms acute HCV is very likely to go chronic. This underlines the importance to find ways to prevent the condition becoming chronic. Standard monotherapy with alpha interferon reduces the evolution to chronic HCV to <10%.

Unfortunately most acute infections are missed as they are asymptomatic, the opportunity to treat is rare therefore.

5.2. Epidemiology – prevalence and Incidence
The global incidence of hepatitis C is currently unknown. Preliminaryestimates of the incidence of HCV suggest that 6400,000 HCV infection may occureach year. In the United States, it is estimated that more than 20,000 casesoccur each year. The incidence of new symptomatic infections has been estimated to be 1–3 cases/100,000 persons annually, however rates of more than 20/100,000 have been reported. The actual incidence of new infections is obviously much higher (the majority of cases being asymptomatic). The incidence is declining for two reasons: (a) transmission by blood products has been reduced to near zero; (b) universal precautions have reduced transmission in medical settings.
Approximately 3% of the world's population is infected with HCV, a total of 170 million people. In the US about 4 million people have been infectedwith HCV, of these 2.7 million are estimated to have a chronic infection.

5.3. Risk factors & transmission
Transmission is blood to blood. As a blood borne infection HCV may potentially be transmitted sexually mainly in individuals with other sexually transmitted diseases.

Perinatal transmission is around 5%, much lower than the rates for HIV andHBV.

Breast feeding does not pose a risk. Health care workers are at risk , mostly due to nosocomial transmission, (needlestick injury carries a 3% HCV risk) also at risk are incarcerated individuals and persons born in countries with high endemicity,

The CDC suggests the following risks groups and categories:

Table 2. HCV risks
PERSONS RISK OF INFECTION TESTING RECOMMENDED?
Unsterile/used needles, injecting drug users High Yes Recipients of clotting factors made before 1987 (prior to heat
inactivation) High Yes Hemodialysis patients Intermediate Yes Recipients of blood and/or solid organs before 1992 Intermediate Yes People with undiagnosed liver problems Intermediate Yes Infants born to infected mothers Intermediate After 12–18 mos. Old Healthcare/public safety workers Low/intermediate Only after known exposure People having sex with multiple partners Low No* People having sex with an infected steady partner Even lower No*

Nosocomial risk is about 1% - endoscopy , multiple dose vials, surgery. Persons with sexually transmitted diseases (STD), including such common ones as herpes, represent an additional risk group. Other potential risk activities include - cocaine snorting, tattoos, body piercing, Iatrogenic causes (dirty equipment), tribal scarification and mass circumcision ceremonies.

5.4. Diagnosis and differential diagnosis
After initial exposure, HCV RNA can be detected in blood within 1-3 weeks. Antibodies to HCV are detected by enzyme immunoassay (EIA) only in 50-70% of cases when symptoms begin, rising to more than 90% after 3 months.

Liver cell injury is manifested after 4-12 weeks by elevation of ALT levels. Acute infection can be severe but it is rarely fulminant. Studies show the risk of fulminant hepatitis is very low at < 1%.

The most widely used screening tests for HCV are based on enzyme-linked immunosorbent assays (ELISA, EIA) . HCV can be diagnosed by the presence of anti-HCV in serum but antibody tests often do not give positive results for up to 3 months after acute infection. Testing for HCV RNA is the best test for making a diagnosis of acute HCV, particularly if then followed by
development of anti HCV , with seroconversion observed.

Polymerase chain reaction (PCR) tests detect HCV RNA in serum within 1-2 weeks after infection. ELISA for antibody testing has a 97% sensitivity.

The antibody may be undetectable for up to 8 weeks after infection and acute HCV infection is usually subclinical (window phase). The antibody does not confer immunity.

An assay prototype designed to detect and quantify total hepatitis C virus (HCV) core antigen (HCVcoreAg) protein in serum and plasma in the presence or absence of anti-HCV antibodies has recently been developed by industry.

Investigations show that HCVcoreAg testing permits the detection of an HCV infection about 1.5 months earlier than the HCV Ab screening tests and an average of only 2 days later than quantitative HCV RNA detection in individual specimens.


5.4.1. Blood tests for acute HCV
Anti-HCV:

a.. PCR – HCV-RNA
Note: Anti HCV does not tell whether the infection is new (acute), chronic or is no longer present.

Qualitative Tests to detect presence or absence of virus (HCV RNA)

a.. Generic polymerase chain reaction
b.. Amplicor HCV

Quantitative tests to detect titer of virus (HCV RNA)

a.. Amplicor HCM Monitor
b.. Quantiplex HCV RNA (bDNA)
c.. TMA (most sensitive)

5.5. Acute HCV management
Indications for treatment

a.. Seroconversion to serum HCV RNA+ or HCcoreAg+

Early identification of HCV is important because there is evidence that early intervention with standard interferon alpha can markedly reduce therisk of chronic infection from 80% to 10%. There is no pre-exposure prophylaxis for HCV.

5.6. Prevention
Immunoglobulins are ineffective in preventing HCV. There is no real effective passive or active immunization. Behavior change and limitingexposure to risk situations offers the best chance of primary prevention.

5.7. The future
a) Prevention
An important goal is the development of a HCV vaccine which induces cellmediated immunity. Vaccines - both therapeutic and prophylactic are in the early stages of development now.

b) Therapy of acute HCV
Future studies should be larger and more evidence-based and they shouldfocus on efficacy of peginterferons and when therapy should be started.

a.. Start therapy immediately after diagnosis or
b.. Delay start of therapy for 2–4 months to avoid treating thosewhore cover spontaneously (only in 10%–20% of cases).

5.8. Further Information
References for HCV:

1.. NIH Concensus paper HCV
2.. Therapy of Acute Hepatitis C; Alberti et at; Hepatology 2002;36;s195-s200. Pubmed-Medline
3.. Centers for Disease Control

6. Acute Hepatitis D
6.1. Pathogenesis and natural cause

HDV only co-occurs with HBV

Hepatitis D virus (HDV) is a defective single stranded RNA virus of the Deltaviridae type. It is an incomplete RNA virus that needs the hepatitis B surface antigen to transmit its genome from cell to cell. Therefore, it only occurs in people who are positive for the hepatitis B surface antigen.

Mean incubation time varies from 60-90 days but can vary as widely as 30-180 days.

Because HDV relies absolutely on HBV the duration of the HDV infection is totally determined by the duration of the HBV infection. HBV replication is suppressed in most HDV-infected individuals. HDV infection can occur either as a co-infection with HBV or as a superinfection in those with chronic HBV.

a.. Co-infection
a.. severe acute disease
b.. low risk of chronic infection
c.. indistinguishable from acute HBV
b.. Superinfection
a.. usually develop acute exacerbation of chronic hepatitis
b.. high risk of chronic liver disease

6.2. Epidemiology – prevalence and incidence
There is a decreasing prevalence of both acute and chronic hepatitis D in the Mediterranean area and in many other parts of the world, which has been attributed to a decline in the prevalence of chronic HBsAg carriers in the general population. The incidence of HDV in the general Italian population has declined from 3.1/1,000,000 habitants in 1987 to 1.2/1,000,000 in 1992.
However, new foci of high HDV prevalence continue to be identified as in the case of the island of Okinawa in Japan, of areas of China, Northern India and Albania.

6.3. Risk factors & transmission
Modes of transmission

a.. Percutaneous exposure
a.. injecting drug users
b.. Permucosal
c.. Sexual contact

The transmission mode of HDV is similar to that of HBV. The risk of fulminant hepatitis in co-infection is 5%. Otherwise the
prognosis of co-infection generally is good. The prognosis for supe rinfection is variable. There is some suggestion that the chronic liver disease is more severe but this is not universally the case.

6.4. Diagnosis and differential diagnosis
During acute HDV infection, HDV Ag and HDV-RNA (PCR) appear early and anti-HDV of the IgM class appears later.

It may take 30-40 days after the first symptoms appear before anti-HDV can be detected.

6.4.1. Serology in the case of co-infection
The serologic course of HDV infection varies depending on whether the virus is acquired as a co-infection with HBV or as a super infection of a person who is already a hepatitis B carrier. In most persons with HBV-HDV co-infection, both IgM antibody to HDV (anti-HDV) and IgG anti-HDV are detectable during the course of infection. However, in about 15% of patients the only evidence of HDV infection may be the detection of either IgM anti-HDV alone during the early acute period of illness or IgG anti-HDV alone during convalescence. Anti-HDV generally declines to sub-detectable levels after the infection resolves and there is no serologic marker that persists to indicate that the patient was ever infected with HDV. Hepatitis Delta antigen (HDAg) can be detected in serum in only about 25% of patients with HBV-HDV co-infection. When HDAg is detectable it generally disappears as HBsAg disappears and most patients do not develop chronic infection.
Tests for IgG anti-HDV are no longer commercially available in the United
States and Europe so it is not possible always to confirm the diagnosis.

Tests for IgM anti-HDV, HDAg and HDV-RNA by PCR are only available in research laboratories.

6.4.2. Serology in the case of superinfection
In patients with chronic HBV infection who are super-infected with HDV several characteristic serologic features generally occur, including: 1) the titer of HBsAg declines at the time HDAg appears in the serum, 2) HDAg and
HDV RNA remain detectable in the serum because chronic HDV infection generally occurs in most patients with HDV superinfection, unlike the case with co-infection, 3) high titers of both IgM and IgG anti-HDV are detectable, which persist indefinitely. HBV replication is usually suppressed.

6.5. Acute Hepatitis D management
No specific treatment is available. Some success is reported with the viral DNA polymerase inhibitor foscarnet.

6.6. Prevention

a.. HBV-HDV Co-infection is prevented by vaccination against HBV
b.. HBV infection HBV-HDV superinfection
c.. Education to reduce risk behaviors among persons with chronic HBV infection

HDV co-infection can be prevented with HBV pre- or post-exposure prophylaxis

6.7. The future
It is unknown whether new delta antigen test will be developed again.

6.6. Further information
Hyperlinks for HDV:

7. Acute Hepatitis E
7.1. Pathogenesis and natural cause
Hepatitis E virus (HEV) is an RNA containing virus of the Caliciviridae type.

The key feature is that - like HAV - it is self-limiting. Management of HEV should therefore be supportive. Hospital admission and medication are not generally necessary, except for pregnant women and those with background chronic liver disease.

Average HEV incubation time is 40 days and can vary from 15-60 days.

Overall case fatality is 1-3%. In pregnant women it is 15-25%.

The clinical presentation of HEV is the same as for HAV.


HEV Infection is self-limiting and does not require treatment

7.2. Epidemiology – prevalence and incidence
Outbreaks of hepatitis E have occurred over a wide geographic area, primarily in developing countries with inadequate sanitation. The reservoir of HEV in these areas is unknown. The occurrence of sporadic HEV infections in humans may maintain transmission during inter-epidemic periods, but a nonhuman reservoir for HEV is also possible. In the United States, in Europe and other non-endemic areas, where outbreaks of hepatitis E have not been documented to occur, a low prevalence of anti-HEV (<2%) has been found in healthy populations. The source of infection for these persons is unknown.

* (Note: The map of HEV infection generalizes available data and patterns may vary within countries.)

7.3. Risk factors & transmission
HEV is transmitted primarily by the fecal oral route and fecally contaminated drinking water is the most frequent cause of transmission. Transmission may occur vertically. Transmission between persons is minimal.Blood-borne transmission has not been demonstrated.

HEV has been implicated in large epidemics in Asia, Africa and Mexico.

Young adults (20-40yr) are affected most, the prognosis is generally good except in pregnant women.

Pre-exposure prophylaxis for HEV is not available.

7.4. Diagnosis and differential diagnosis
Assays have been developed for HEV antigen and IgM/IgG antibodies testing but they are not widely available commercially.

The virus can be identified in stool, bile and hepatocyte cytoplasm.

Serologic testing for HEV is available

Further information is available from the Centres for Disease Control and NIHin the US. Click here (CDC)

7.5. Acute hepatitis E management
Treatment is supportive only. Pregnant women are a special risk category.

Pregnant women with acute Hepatitis E Infection have a risk of fulminant liver failure of around 15% Mortality is high and varies from 5-25% in different studies.

HEV infection causes mortality in up to 25% of pregnant women in the 3rd trimester of pregnancy

7.6. Prevention

The best way to avoid HEV infection is to avoid using untreated drinking water

Avoid drinking water or eating ice of unknown purity, uncooked shellfish and foods washed in drinking water. Currently, no HEV vaccine is commercially available.

7.7. the Future
Safe drinking water and a good sanitation infrastructure are the keys to eradicating HEV infection.

7.8. Further Information
Hyperlinks for HEV:

3.. Aggarwal, R. and Krawczynski, K. Hepatitis E: an overview and recent advances in clinical and laboratory research. J Gastroenterol Hepatol, 15: 9-20, 2000. Pubmed-Medline

7.9. Summary
Hepatitis E occurs in annual epidemics, often during the rainy season, and is mainly associated with fecally contaminated drinking water; exceptions are food-borne epidemics (raw or uncooked shellfish). Epidemic and sporadic cases have been reported from southeast and central Asia, the Middle East, northern and western Africa and North America. Epidemics of hepatitis E are more common in parts of the world with hot climates and are rare in temperate climates. Preliminary evidence indicates that up to 40% of acute hepatitis in Egypt and India is due to HEV and hepatitis E is responsible for up to 70% of acute hepatitis in countries such as Saudi Arabia, Vietnam, Indonesia, Malaysia and Nepal.

8. Literature References

1.. EASL HBV Consensus Paper
2.. NIH Consensus paper HCV
3.. BMJ 2001;322;151; Acute Hepatitis.
4.. D Lavanchy ;Journal of Gastroenterology and
Hepatology;2002;17;s452-s459. Pubmed-Medline
Useful Websites for Hepatitis diagnosis and management:

Clinical Guidelines and Standard of Care For Colo-Rectal Cancer Screening

OMGE Position Statement:
Colorectal Cancer Screening and Surveillance
Statement prepared by Professor Sidney J. Winawer 
and approved by the WGO/OMGE Guidelines & Statements Committee

1. Introduction

There will be approximately 850,000 new cases and more than 500,000 deaths from Colorectal Cancer (CRC) world-wide this year. Risk factors for CRC include older age, family history, certain hereditary conditions, dietary factors, lack of exercise, exercise, alcohol, smoking and sedentary lifestyles. Some of these risk factors such as age cannot be changed; others such as diet require massive public education to change behavior. In the past few years, considerable evidence has accumulated that the number of people developing and dying from CRC can be dramatically reduced by screening and surveillance. This evidence has resulted in a consensus for the first time by many authoritative groups that CRC screening is effective and should be recommended.

2. Definitions

Screening is the testing of asymptomatic individuals to determine who is likely to have adenomatous polyps or CRC.

Diagnosis is the work-up of people who have a positive screening test.

Surveillance is the monitoring of people who have premalignant conditions such as Inflammatory Bowl Disease (IBD) or who receive treatment for adenomatous polyps or CRC.

3. Risk Factors for CRC

All men and women with no other risk factors are at risk for CRC at age 50 and older. The risk is about equal for men and women. Although risk is also present below age 50, more than 90% of people with CRC are age 50 or older. The risk doubles with each decade. Factors that increase risk include a family history of 1 or 2 first degree relatives with CRC; Familial Adenomatous Polyposis (FAP) or Hereditary Non-Polyposis Colorectal Cancer (HNPCC); or personal history of IBD, adenomatous polyps or CRC.

4. Evidence for CRC Screening

There are now 3 randomized control trials that have reported a mortality reduction from CRC as a result of screening with a guaiac based Fecal Occult Blood Test (FOBT). The largest reduction is 33% with annual screening using a sensitive slide and lesser reductions (15-18%) using a less sensitive slide every other year. Recently, one trial reported a CRC incidence reduction as a result of detecting and removing adenomatous polyps. Immunochemical FOBTs have demonstrated excellent sensitivity and specificity.

Two case control studies and a small prospective randomized trial have demonstrated a mortality reduction of 60-80% as a result of screening sigmoidoscopy. There are 2 large prospective randomized trials in progress (US & UK) examining mortality from screening flexible sigmoidoscopy. Several studies have demonstrated an increased yield of adenomatous polyps and cancer by combining FOBT and sigmoidoscopy but as yet a significant mortality reduction has not been reported.

Two studies have reported the feasibility of screening colonoscopy in asymptomatic men (1 study) and in men and women (1 study). The studies have demonstrated that: approximately 10% of those screened have early stage cancer (1%) or advanced adenomas; complications are low; and approximately 30-50% of people with proximal neoplasia would not have been identified if only flexible sigmoidoscopy were done.

Studies of effectiveness (incidence and mortality) have not been initiated as yet. There are no reports on screening barium enema. Newer techniques for screening are under study, including: virtual colonoscopy and fecal DNA markers, which provide additional screening options.

5. Evidence for CRC Surveillance

There is strong evidence that removal of adenomatous polyps followed by colonoscopy surveillance will reduce the incidence of CRC. The follow-up surveillance intervals required can be longer than previously believed. Patients have been stratified into those at low and high risk for subsequent advanced adenomas. Double Contrast Barium Enema (DCBE) has been shown to be less accurate in detecting adenomatous polyps at follow-up. Surveillance goals after curative cancer surgery are the same as for post-polypectomy patients. IBD surveillance with colonoscopy every 1-2 years can detect early cancer and dysplasia in a high percentage of people who develop cancer with IBD.

6. Guidelines for CRC Screening and Surveillance

6.1 General Guidelines: People with symptoms require a diagnostic work-up. Personal and familial factors need to be evaluated. A positive screening test requires prompt diagnostic work-up by colonoscopy and follow-up surveillance.

6.2 Screening Guidelines: All men and women age 50 and older should be offered screening for adenomatous polyps and cancer with one of the follow options: Fecal occult blood testing annually with a sensitive guaiac or immunochemicaltest, flexible sigmoidoscopy every 5 years, preferably both combined, colonoscopy every 10 years, or DCBE with flexible sigmoidoscopy every 5-10 years. People with 1 or 2 first-degree relatives with colorectal cancer or an adenomatous polyp under age 60 should be offered screening beginning at age 40 with one of the above options. A family history consistent with FAP or HNPCC requires genetic counselling, possibly genetic testing and more intense surveillance at a younger age.

6.3 Surveillance Guidelines: Following removal of an adenomatous polyp, a colonoscopy follow-up program should be initiated. In general most patients can have the first follow-up colonoscopy 3-5 years later depending on the number and pathology of the polyps. Some patients require earlier intervention if the colon is not cleared or if there are numerous polyps, or malignant polyps. After cancer surgery, a colonoscopy is usually done at 6 months to 1 year and then the follow-up is the same as for post-polypectomy. Long standing IBD requires colonoscopy for the detection of cancer and dysplasia every 1-2 years.

More specific details can be obtained from the accompanying references.

7. Cost Effectiveness & Implementation of Guidelines

All screening approaches are as cost-effective as screening mammography and costs are saved as the cost of cancer treatment rises.

With strong data, and evidence-based guidelines well established, we need now to focus our attention and energy on universal implementation. This is a major effort requiring campaigns to increase public awareness and physician acceptance of colorectal cancer screening. Many groups have developed programs directed toward this goal, and can provide assistance to those interested in promoting screening in their country. As specialists in Digestive Disease, we understand the global impact that we can have today by eradicating a major cancer killer. As leaders in our respective medical communities, we need to encourage screening for colorectal cancer and adenomatous polyps in all men and women, particularly in countries where the risk is high. This is now the 'standard of practice'.

8. Literature References

  1. Colorectal cancer screening and surveillance: clinical guidelines and rationale-Update based on new evidence. Winawer S, Fletcher R, Rex D, Bond J, Burt R, Ferrucci J, Ganiats T, Levin T, Woolf S, Johnson D, Kirk L, Litin S, Simmang C; Gastrointestinal Consortium Panel Gastroenterology. 2003 Feb;124(2):544-60.  Pubmed-Medline.
  2. Colorectal cancer screening: Clinical guidelines and rationale Winawer SL, Fletcher RH, Miller L, et al. Gastroenterology. 1997:1:504-642  Pubmed-Medline.
  3. Guide to Clinical Prevention Services. Alexandria, U.S. Preventive Services Task Force VA:International Medical Publishing; 1996:89-103.
  4. The effect of fecal occult-blood screening on the incidence of colorectal cancer. Mandel JS, Church TR, Bond JH, et al. N Engl J Med. 2000;343:1603-1607.  Pubmed-Medline.
  5. Use of colonoscopy to screen asymptomatic adults for colorectal cancer. Lieberman DA, Weiss DG, Bond JH, Ahnen DJ, Garewal H, Chejfec G. Veterans Affairs Cooperative Study Group 38. N Engl J Med. 2000;343:162-168.  Pubmed-Medline.
  6. Risk of advanced proximal neoplasms in asymptomatic adults according to the distal colorectal findings. Imperiale TF, Wagner DR, Lin CY, Larkin GN, Rogge JD, Ransohoff DF. N. Engl J Med. 2000;343:169-174.  Pubmed-Medline.
  7. Uptake, yield of neoplasia, and adverse effects of flexible sigmoidoscopy screening. Atkin WS, Hart A, Edwards R, et al. Gut. 1998;42:560-565.  Pubmed-Medline.
  8. A comparison of colonoscopy and double-contrast barium enema for surveillance after polypectomy. Winawer SJ, Stewart ET, Zauber AG, et al. N Engl J Med 2000;342(24):1766-1772.  Pubmed-Medline.
  9. Prevention of colorectal cancer by colonoscopic polypectomy. Winawer SL, Zauber AG, Ho MN, et al. The National Polyp Study Workgroup. N Engl J Med. 1993;329:1977-1981.  Pubmed-Medline.
  10. Population-Based Surveillance by Colonoscopy: Effect on the Incidence of Colorectal Cancer. Thiis-Evensen E, Hoff, G.S. Sauar, J, Langmark F, Majak B.M & Vatn M.H Scand J Gastroenterol 1999(4):414-420.  Pubmed-Medline.
  11. American Cancer Society Guidelines for the Early Detection of Cancer: Update of Early Detection Guidelines for Prostate, Colorectal, and Endometrial Cancers. Smith, RA et al. CA Cancer J Clin 2001:51:38-75.  Pubmed-Medline.

9. Links to useful web-sites

The Cochrane Collaboration
The Cochrane Colorectal Cancer group has published over 13 Systematic Reviews and 17 Protocols in the CC area
Medline Plus
Excellent source for prevention, screening, diagnosis/symptoms, clinical trials, latest news, research and treatment of CC, plus a special section in Spanish.
The Scottish Intercollegiate Guidelines Network
A very thorough if somewhat dated (1997) guideline on Colorectal Cancer
The National Cancer Institute
A major source for colorectal cancer information
The National Guidelines Clearing House
The world's largest collection of ebm guidelines, type "colorectal cancer" in the search box
The American Gastroenterological Association
  • Colorectal cancer screening: clinical guidelines and rationale.
  • Hereditary colorectal cancer and genetic testing.
  • Impact of dietary fiber on colon cancer occurrence.
The American College of Gastroenterologists
Polyp guideline: diagnosis, treatment, and surveillance for patients with colorectalpolyps. Task Force on Preventive Health Care.
Preventive health care, 2001 update: colorectal cancer screening.
Institute for Clinical Systems Improvement
Colorectal cancer screening.
American Society of Colon and Rectal Surgeons
Practice parameters for the detection of colorectal neoplasms
American Cancer Society
American Cancer Society guidelines on screening and surveillance for the early detection of adenomatous polyps and cancer-update 2001. In: American Cancer Society guidelines for the early detection of cancer.
American College of Radiology
ACR Appropriateness Criteria™ for pre-treatment staging of colorectal cancer.

ACR Appropriateness Criteria™ for screening for colorectal cancer.

 

50 SITES ON WHAT YOU SHOULD KNOW ABOUT THE NEW HEALTH INSURANCE DEBATE
 

Health insurance is a major issue in the current U.S. health crisis, because few people can afford insurance outside employers who offer this benefit. Learn more about this topic through the following blogs:

  1. About: Health Insurance: Kelly Montgomery is a health policy expert who worked as a health policy analyst and consumer advocate for the American Diabetes Association in Alexandria, Va. She’s covered health insurance issues since 2005 at this blog.
  2. California Insurance Lawyer Blog: Although this blog focuses on California insurance disputes, it also addresses forefront issues in health insurance, insurance bad faith, long-term care insurance and more. This blog is offered by Kantor & Kantor LLP, Attorneys at Law.
  3. Consumer’s Health Insurance Blog: Jonathan Pletzke is a consumer who wrote a book and is writing a blog on his efforts to find affordable health insurance for his family.
  4. Healthcare-NOW! Healthcare-NOW! is an all-volunteer, highly decentralized organization with 300 very active volunteers spread all over the country. Their focus is on obtaining a single-payer, guaranteed, and universal health care system.
  5. Healthcare Soundoff: Healthcare Soundoff provides tips and ideas to get a better bang for that extra buck you will probably be paying for health insurance. Ask questions, receive answers in this two-way dialogue blog.
  6. InsureBlog: This is a plain little site that is updated constantly with information about insurance issues, principles and solutions. Contributors include insurance consultants who work for various companies.
  7. PHNP: Physicians for National Health Program is a nonprofit organization that supports single-payer national health insurance. This group has been advocating health care reform since 1987.
  8. The Alan Katz Health Care Reform Blog: Katz is a past president of both the National and the California Associations of Health Underwriters and an advocate for agents and the role they play in America’s health care coverage system.

Managed Care

Managed Care is a broad term that generally refers to a system that manages the quality of health care, access to that care and the cost of that care. Managed care plans range from Health Maintenance Organizations (HMOs), which require enrollees to select from a network of doctors, to Preferred Provider Organizations (PPOs), which are more specifically designed to meet a patient’s individual needs (but at a higher cost). Current issues include rising costs related to profit motives.

  1. Disease Management Care Blog: This blog provides a forum for information and insights into the world of disease management, the medical home and the chronic care model, the patient-centered medical home, informatics, pay-for-performance and other topics surrounding managed care.
  2. DMGMA Blog: This blog is about managed care in Delaware, and it is provided from the perspective of the Delaware Medical Group Management Association.
  3. HCPro Managed Care: HCPro, Inc. provides information and consulting products and services to help with health care regulation and compliance. Their blog provides articles and blog entries from this perspective.
  4. Managed Care: This section of the Business Exchange (BusinessWeek) talks about managed care issues from a business and political perspective.
  5. Managed Care Contracting & Provider Payment: Robin Fisk and the Fisk Law Office publishes this blog that addresses health care providors, practitioners, insurers and managed care companies.
  6. Managed Care Matters: Joseph Paduda is the principal of Health Strategy Associates and this is his blog on managed care for group health, workers compensation and more.

Medicare and Medicaid

Medicare is health care for the aged provided by a federally-administered system of health insurance available to persons aged 64 and over and to the disabled. Medicaid is the United States health program for eligible individuals and families with low incomes and resources. The current issues with both programs include a lack of funds and overspending.

  1. Care about Medicare: Use this site to learn more about the latest Medicare news.
  2. Getting Your Medicare Records in Google Health: A recent article by the Official Google Blog that informs readers on Google’s work with the Centers for Medicare and Medicaide Services in Arizona and Utah.
  3. MedicaidFrontPage (Ppb): This blog is dedicated to identifying, monitoring and communicating innovations in quality, finance and access to health care services for persons eligible for Medicaid and State Children’s Health Insurance Programs.
  4. Medicare Part D Blog: Learn more about Medicare D from Q1Medicare.com, one of the nation’s private Internet resources for Medicare Part D information. They are operated by Q1 Group, LLC in partnership with National Insurance Markets, Inc.
  5. Medicare Supplement Center: Learn more about Medicare supplements and Medigap coverage as it applies to various states. This is a business site that is not connected with or endorsed by the United States government or the Federal Medicare program.

Long-Term Care

Long-Term Care, or LTC, provides a variety of services to meet needs of people with chronic illnesses or disabilities, no matter the individual’s age. Current issues include lack of funds, which raises some demand for incentives for individuals who can save for future long-term care needs. Also, suggestions to expand Medicare to include long-term care have been considered.

  1. Advance for Long-Term Care Management: This blog and news site provides information and strategies for nursing homes, SNFs, assisted living and senior housing facilities and personnel.
  2. Elder Law Answers Blog: Harry S. Margolis practices elder law with Margolis & Bloom based in Boston, with additional offices in Framingham, Woburn and Dedham. He edits The ElderLawReport and is the founder and President of this blog site.
  3. Cancer Action Network Health Care Reform Blog: This blog is in this category as it is maintained by the Cancer Action Network, an organization concerned with all issues surrounding chronic disease and long-term care.
  4. Info Long-Term Care: Laurie Blanchard, B.A., MLS, provides a current awareness service for health care practitioners in long-term and geriatric care.
  5. Long Term Care Review: Duane Lipham, a Certified Long Term Care consultant, provides a blog that updates readers on news and opinion about long-term care treatment.
  6. Long Term Living: The LTL Blog is open to all readers interested in creating constructive discussions focusing on the long-term care industry.
  7. McKnight’s Long-Term Care News and Assisted Living: This is a business news magazine that serves the intitutional long-term care community. The news, articles and blog entries are geared toward addressing assisted living managers to help them improve operations based upon regulatory and business changes in the marketplace.

Health Care Debate

The following blogs address the current political climate surrounding health care issues today, including health care reform and possible solutions.

  1. This site carries a number of resources from the American Federation of Labor - Congress of Industrial Organizations’ perspective.
  2. DB’s Medical Rants: Dr. Centor from the Academic Hospitalist Academy offers his perspectives on current medical care, its problems and the possible solutions.
  3. EGMN: Notes from the Road: The staff of the Elsevier Global Medical Network writes this blog, which focuses on hundreds of medical meetings each year held across the U.S.
  4. Health Affairs: The staff of Health Affairs, the policy journal of the health sphere, offers opinion and information and contributing voices validate or offer contradictory opinion and information in this blog.
  5. Health Beat: Maggie Mahar, a fellow at The Century Foundation and author of Money-Driven Medicine: The Real Reason Health Care Costs So Much, brings her insights to a blog that addresses various and current health care issues.
  6. Health Care Policy and Marketplace Review: Bob Laszewski’s review of the latest developments in federal health policy and marketplace activities in the health care financing business in Washington D.C.
  7. Health Populi: Jane Sarasohn-Kahn is a health economist and management consultant who has worked with health care stakeholders for over twenty years. Jane’s projects focus on: scenario, strategic and business planning, forecasting, health policy analysis.
  8. Healthcare in America: Dr. Fisher believes that health care reform can work, but only if the costs are addressed first.
  9. Inside View on the Business of Healthcare: Corporate Research Group has been serving the managed health care marketplace for over 14 years as the industry’s leading source for breaking news, strategic intelligence, market research and custom consulting. Their latest news tackles the health care crisis.
  10. Let’s Talk Health Care: Charlie Baker, President and CEO, Harvard Pilgrim Health Care, started this blog to help readers stay informed about health care changes.
  11. Pharma Strategy Blog: A woman who helps market pharmaceuticals writes this blog. After seven years in the UK, her outlook has changed on the U.S. health care environment, so her perspective makes for interesting reading.
  12. Susan Shargel’s Healthcare Reform Blog: Susan started this blog to help inform her clients, other business owners and concerned citizens on health care reform issues. The focus is on small business.
  13. The Health Care Reform Debate Blog - cmhmd: This is a mysterious blog, as the writer remains anonymous. The focus is on the American Medical Association and the writer’s opinion on health care reform.

Helping Others to Address the Debate

How can average Americans address the health care crisis? The following blogs may provide some answers and support for those who have questions in this changing environment.

  1. HealthBlawg: David Harlow from The Harlow Group LLC is a health care lawyer who addresses issues facing health care providers, vendors and payors.
  2. Healthcare Law Blog: This blog focuses on healthcare law issues affecting Montana, Idaho, Wyoming, Utah, Colorado, Nevada and New Mexico.
  3. Saving Money and Surviving the Healthcare Crisis: Davis Liu, M.D. is a practicing board-certified family physician and author of the book, Stay Healthy, Live Longer, Spend Wisely - Making Intelligent Choices in America’s Healthcare System. He shares his knowledge on how to survive the current crisis in his blog.
  4. The Future of Aging Blog: The members of the American Association of Homes and Services for the Aging (AAHSA) present a blog that covers topics including the way we age in this country. They hope to inspire engagement and participation in a movement that will change current problems.
  5. The Health Care Blog: The Industry Insider stated that you can learn more [about the health care industry] in ten minutes with this blog than you can with your local paper for a week.
  6. The New Health Dialogue Blog: The posts included in this blog site address current health issues that affect patients and health care personnel. Join the dialogue to learn more and to receive answers to your questions.
  7. The Users’ Guide to the Health Reform Galaxy: The Robert Wood Johnson Foundation’s goal is to improve health care for all Americans. Their blog addresses current health care reform in language that is easy to comprehend.
  8. The White House Blog: This link is connected to a search for “health care reform” topics within the White House blog. You can ask questions about health care reform and receive answers to those questions here


Liver Cancer Websites
 

Information on Liver Cancer-Hepatocellular carcinoma (HCC)

HCC is the 5th most common tumor worldwide and the 2nd most common cause of death based on World Health Organization data.

 According  to Jorge A. Marrero of Print  and Digital Media Review; Gastroenterology. 2014;
146[5]:1423-1424
the following websites would be of interest to patients of gastroenterologists seeking
websites which offer important information about Liver Cancer [HCC].

It is critical, he maintains, to promote education about the risk factors leading to the development of this tumor in order to promote prevention, and on the other hand provide important information about HCC to those afflicted with the disease. All these websites provide important resources to the public about this important tumor

1.      Information on Hepatocellular carcinoma (HCC) the 5th most common tumor worldwide and the 2nd most common cause of death based on World Health Organization data (available from: http://globocan.iarc.fr/Pages/fact_sheets_cancer.aspx). In the United States, this has been a rare tumor, but the incidence has been rising over the last 2 decades and it is estimated to continue rising over the next decade or two.

2.      The increase in incidence is the second largest of all solid tumors in the United States over the last 10 years (available from: http://seer.cancer.gov/statfacts/html/livibd.html). Because of the increased incidence of this tumor and its rarity compared with other solid tumors, it has become a health care problem.

3.      MedicineNet (http://www.medterms.com/script/main/art.asp?articlekey=18504) is aimed to the general public as an informational resource. This website is excellent overall and provides an excellent review on HCC that is easy to follow and understand by the lay public. It has outstanding information on the epidemiology, risk factors, diagnosis, staging, and treatment of HCC that is easily understood. It addresses areas of controversy such as staging in a straightforward and easy to comprehend manner. This website is well- written and reaches its target audience. The one potential negative aspect is that it lacks drawings, photos, or tables to help the reader better understand certain aspects (ie, imaging of HCC).

4.      WebMD (http://www.webmd.com/cancer/liver-cancer-hepatocellular-carcinoma-hcc-directory) also aims to reach the layperson to provide information about specific diseases, in this case HCC. It asks a question and then an answer is provided as information.

5.      Wikipedia (http://en.wikipedia.org/wiki/Hepatocellular_carcinoma) is aimed to the general public. This website provides information on HCC in an easy to follow manner and covers all the areas necessary to have an overall portrait of this tumor. The fact that any person can edit this site may limit the overall content. The management aspect is limited.

6.      Medscape (http://emedicine.medscape.com/article/197319-overview) is a well-written website that provides comprehensive information that is easy to follow as well as easily understood.

7.      VA (http://www.hepatitis.va.gov/provider/guidelines/2009HCC.asp). The Veterans Health Administration’s Hepatitis C Resource provides this website as a guide to physicians rather than the lay public. This website has excellent overall content that is supported by the literature and guidelines on HCC. The content is easy to follow and has excellent use of tables to help the reader follow the content. It is not geared for the patients or the lay public.

8.      UpToDate (http://www.uptodate.com/contents/clinical-features-and-diagnosis-of-primary-hepatocellular-carcinoma). The patient-directed content was reviewed using the search term ‘hepatocellular carcinoma.” The content of this aspect of the website discuss cirrhosis, hepatitis C, alcohol, hepatitis B, hemochromatosis, and vaccination in general terms. The website discusses these liver diseases and their risk for developing HCC, but otherwise does not discuss surveillance, diagnosis, staging, or treatment of this tumor.

 


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