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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
- Sunstein CR. On rumor: how falsehoods spread, why we believe them, what can be done. New York: Farrar, Straus & Giroux, 2009.
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.
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.
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.
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.
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.
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/ SENIOR HEALTH CARE SITES
More Web-based data sources
Title: Medical Care Title: Yaz Side
Effects
ProMED-mail,
www.promedmail.org
Global Public Health Intelligence Network (GPHIN)
HealthMap,
www.healthmap.org
MediSys,
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
GeoSentinel,
www.istm.org/geosentinel/main.html
Emerging Infections Network,
http://ein.idsociety.org
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
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. CERVICAL CANCER LINKS Articles
Reliable Links
Adam AMA
Health Insight American Academy of Family
Physicians American Medical Association CancerNet Center for Disease Control and
Prevention CenterWatch Clinical Trials
Service
Hardin
MD: Hardin Meta Directory of Internet Health Sources
Hardin
Meta Directory - Psychiatry/Mental Health
Health
Economics
Healthfinder HIV InSite MedHelp International Medical Matrix Cite Health
National Institutes of Health
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 ThriveOnline WebMD 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 Alagille Syndrome
Alliance Alpha-1 Foundation American Association for
the Study of Liver Diseases American College of
Gastroenterology American Dietetic
Association (ADA) American
Gastroenterological Association American
Hemochromatosis Society Inc. (AHS) American Liver
Foundation (ALF) American
Porphyria Foundation American Society for
Gastrointestinal Endoscopy American Society
for Parenteral and Enteral Nutrition American Society of
Abdominal Surgeons American Society of Colon
and Rectal Surgeons Centers for Disease
Control and Prevention (CDC), Hepatitis Branch Celiac Disease Foundation
(CDF) Celiac Sprue
Association/USA Inc. Crohn’s & Colitis
Foundation of America Inc. Cyclic Vomiting
Syndrome Association (CVSA) Food Allergy Network
& Anaphylaxis Network Gastro-Intestinal Research
Foundation Gluten Intolerance Group
of North America Hepatitis B
Coalition/Immunization Action Coalition Hepatitis B Foundation Hepatitis Foundation
International (HFI)
NIH Senior Health
Health for Seniors
https://www.usa.gov/health
22 Senior Health Risk Calculators for Healthy Aging
http://www.calculators.org/health/aging.php
Seniors & Drugs - NCADD
Ultimate Guide to Rehab & Medicare
https://www.discoveryplace.info/rehab-medicare-ultimate-guide
Senior-Friendly Home Remodeling
http://www.homeadvisor.com/article.show.Senior-Friendly-Remodeling.8317.html
Considerations for Older Travelers
Visit Dr.Hookmans Blog
http://drperryhookman.blogspot.com/
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:
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
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
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
& then click on each category to see more).
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)
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
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
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 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/
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.
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.
• 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
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.
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.
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.
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.
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."
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.
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.
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.
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.
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.
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.
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.
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.
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.
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."
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).
This site, with sections geared to both doctors and consumers, offers medical
news, personalized health information and support communities.
Gastrointestinal
Organizations Offering Patient Information
Information of Alagille syndrome, including diagnosis, testing, and
treatment; support network for children, their parents, and others.
Educational materials for physicians and the public about testing for
Alpha-1 Antitrypsin Deficiency and the treatments; Education Materials Working
Groups; Research Registry Update
Information on practice guidelines; journals available online; membership
directory
Publications for patients on common gastrointestinal problems.
Monthly professional journal; monthly newsletter; books and other resources
for consumers and professionals.
Publications for patients on common gastrointestinal problems.
Variety of information on hemochromatosis (HH), including DNA screening for
HH and pediatric HH.
Information about liver wellness, liver disease, and prevention of liver
disease; audiovisuals, seminars, and training programs; advocacy and research;
news and events.
Informational brochures about porphyria; referrals to porphyria treatment
specialists; self-help services for members.
Publications for patients on gastrointestinal endoscopy and digestive
health; clinical guidelines.
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.
Continuing education program for physicians in abdominal surgery.
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.
Publications for patients on hepatitis A through E; slide sets, videos, and
posters; continuing education credited program.
Telephone information and referral services, information packets, and
special educational seminars and general meetings.
nformation sheets, new-patient packet, handbook.
Information on all aspects of Crohn’s disease and ulcerative colitis,
including emotional factors and issues specific to women and children.
Promotes and facilitates medical research about nausea and vomiting;
increases public and professional awareness; patient education publications.
Coping strategies for patients; booklets; videos; cookbooks; and
special-alert mailings informing members of product information, including
ingredient changes, recalls, or packaging mishaps.
One-page quarterly newsletter on issues in gastrointestinal research and
health available by postal mail or online.
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.
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.
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.
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.
Intestinal
Disease Foundation
Information, guidance, and support for people with chronic digestive
illnesses.
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.
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.
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.
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.
-->
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.
- econsults.partners.org - Doctors at three Harvard teaching hospitals consult with your physician; up to $600.
- mdexpert.com - Top cancer doctors around the country consult with your physician; $2,800.
- eyecancer.com - New York ocular oncologist offers advice to your doctor.
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
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.
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
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.
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.
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.
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.
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
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.
Interesting cases; list of clinical studies.
University of Cincinnati Division of Digestive Diseases
Information and classic articles on liver transportation.
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.
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 EncyclopediaThe 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. Browse by first letter of topic: |
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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).
TABLE 7. Digestive Diseases and Other Related Online Journals
Annals of Internal Medicine
Current Topics in Gastroenterology
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Jacob’s Cure supports research into treatments for Canavan disease.
JEWISH GENETIC DISEASE CONSORTIUM
450
West End Avenue
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
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
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
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
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
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
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
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
NY
Residents: (646) 253-7100
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
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
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
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.
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. 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. 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. 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. 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. 6.1 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. 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'. 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: 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. 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. 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. The following blogs address the current political climate surrounding
health care issues today, including health care reform and possible
solutions. 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.
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;
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
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.
(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.
7095
Hollywood Boulevard #583
Los Angeles, CA 90028
450
West End Avenue, #6A
New York, NY 10024
Call or Fax: (866) 907-1847
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Chicago, IL 60606
(312) 357-4718
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(216) 812-5855
Fax: (216) 251-6728
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Chicago, IL 60601
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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/
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
2. Definitions
3. Risk Factors for CRC
4. Evidence for CRC Screening
5. Evidence for CRC Surveillance
6. Guidelines for CRC Screening and Surveillance
7. Cost Effectiveness & Implementation of
Guidelines
8. Literature References
9. Links to useful web-sites
Managed Care
Medicare and
Medicaid
Long-Term
Care
Health Care
Debate
Helping
Others to Address the Debate
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].
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