Experts, Consultants, Authorities - Shwachman Syndrome Specialty shwachman syndrome. AMFS, Inc. (American Medical Forensics).2640 Telegraph Avenue Berkeley, California 94704 Tel 800275 http://www.hgexperts.com/listing/Medical-Experts-Shwachman-Syndrome.asp
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NORD - National Organization For Rare Disorders, Inc. shwachman syndrome. To purchase fulltext report ($7.50) Copyright 1987, 1989,1993, 1996, 1997, 1999, 2001, 2002 Synonyms of shwachman syndrome http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Shwachman Syn
Extractions: ABSTRACT Background: Shwachman syndrome has been recognized as the second most frequent cause of pancreatic insufficiency in children and it is related to hematological and bony anormalities. Aims: To know the main clinical symptoms, analitical data, radiological and sonographic findings in the Shwachman syndrome. Materials and methods: We present a 1 year 4 months old girl with Shwachman syndrome. We reviewed the clinical history taking into consideration height weight relationship according to percentiles and physical examination. Analytical data: blood counts, fetal hemoglobin, vitamin B12 and folate levels, bone marrow examination, stool cultures and examination for ova and parasites, transaminase levels, sweat electrolytes, serologic tests for viral hepatitis. Radiological studies: bone series and bone age, abdominal sonography and computed tomography. Liver and intestinal biopsies. Results: In this patient we confirmed the presence of exocrine pancreatic insufficiency, dysfunction of the bone marrow and bony anormalities tipical in Shwachman syndrome.
Extractions: ABSTRAC Background: Shwachman syndrome has been recognized as the second most frequent cause of pancreatic insufficiency in children and it is related to hematological and bony anormalities. Aims: To know the main clinical symptoms, analitical data, radiological and sonographic findings in the Shwachman syndrome. Materials and methods: We present a 1 year 4 months old girl with Shwachman syndrome. We reviewed the clinical history taking into consideration height weight relationship according to percentiles and physical examination. Analytical data: blood counts, fetal hemoglobin, vitamin B12 and folate levels, bone marrow examination, stool cultures and examination for ova and parasites, transaminase levels, sweat electrolytes, serologic tests for viral hepatitis. Radiological studies: bone series and bone age, abdominal sonography and computed tomography. Liver and intestinal biopsies. Results: In this patient we confirmed the presence of exocrine pancreatic insufficiency, dysfunction of the bone marrow and bony anormalities tipical in Shwachman syndrome.
Shwachman Syndrome Back Home Next. shwachman syndrome. shwachman syndrome Support Australia - providesinformation and support to families and people with shwachman syndrome. http://www.ability.org.uk/Shwachman_Syndrome.html
Extractions: "see the ability, not the disability" You to can help support the Ability Project by: Our Aims ... Z Shwachman Syndrome Shwachman Syndrome Support - Australia - provides information and support to families and people with Shwachman Syndrome. Shwachman Syndrome Support Group - provides disease information, advocates research and assistance to families. Shwachman Syndrome Support Network Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments
Health Library - Shwachman Syndrome shwachman syndrome. Disorder Subdivisions. None. General Discussion. Shwachmansyndrome is a rare genetic disorder with multiple and varied manifestations. http://www.laurushealth.com/library/healthguide/illnessconditions/topic.asp?hwid
Shwachman Syndrome : Meddie Health Search management. (Rating 0.00 Votes 0) Rate It. shwachman syndrome A mothersstory to diagnose this disorder before a team of doctors could. http://www.meddie.com/search/Health/Conditions_and_Diseases/Genetic_Disorders/Sh
WebMD - shwachman syndrome Important It is possible that the main title of thereport shwachman syndrome is not the name you expected. Please http://my.webmd.com/NR/internal.asp?GUID={A3A166C3-19B9-4C0C-BE21-B0AA7B36D69E}
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Health Library - Shwachman Syndrome shwachman syndrome. Self Help Clearinghouse. ShwachmanDiamond Syndrome Support. WRITEshwachman syndrome Support International 4118 Quincy St. St. http://bhagh.nhshealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29shw
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Health Library - Shwachman Syndrome Saint Luke's Health System eLibrary. shwachman syndrome. shwachman syndromeis a rare genetic disorder with multiple and varied manifestations. http://hvelink.saint-lukes.org/library/healthguide/IllnessConditions/topic.asp?h
Health Library shwachman syndrome. ShwachmanDiamond Syndrome Support-shwachman syndrome.Sibling Support Project Sib shops-Parents of Disabled/Ill Children. http://hvelink.saint-lukes.org/library/healthguide/SelfHelp/_SearchResults.asp?l
IDR Factfile For Shwachman Syndrome General information. Disease, shwachman syndrome. Alternative known.Other resources. Publications, Pubmed search for shwachman syndrome. http://bioinf.uta.fi/xml/idr/FF84.xml
Extractions: General information Disease Shwachman syndrome Alternative names: Description Shwachman-Diamond syndrome is characterized primarily by exocrine pancreatic insufficiency, hematologic abnormalities, including increased risk of malignant transformation, and skeletal abnormalities. Shwachman-Diamond syndrome is genetic, most likely an autosomal recessive condition. The genetic defect is unknown at present. The inheritance is supported by the presence of more than one effect patient in a family. Males and females are effected with equal frequency. However, the factors which lead to multisystem diseases are unknown. Classification OMIM Â Shwachman-Diamond syndrome; SDS Cross references Clinical information Description Infants often become ill with symptoms by the age of four or six months old. Early problems include failure to thrive, loose, foul-smelling, greasy stools, feeding problems and recurrent infections. The bone marrow in which blood cells are produced is also affected. White blood cells that help fight infections may be low in number and/or not function properly, leaving the body poorly defended against life threatening infections. Anemia and problems with blood clotting may be present. Growth soon slows and remains below normal; only a few children show growth beyond the third percentile. Infections are present early in at least 85% of children. These occasionally lead to death. Diagnosis is generally made in the first few years of life, although occasionally diagnosis is delayed.
Learning From Genetic Research People with shwachman syndrome are prone to infections especiallysepsis and deep tissue infection. Shwachman's Syndrome Explained. http://www.genet.sickkids.on.ca/rommens/article.html
Extractions: Sign Guestbook Home Johanna Rommens Staff ... Links An international web of links between The Hospital for Sick Children and 300 patients in 15 countries is bringing new hope to 16-year-old Ian Browning and others with a relatively rare genetic syndrome. From The Hospital for Sick Children Foundation Ian Browning, of West Hill, Ontario, a voracious reader who's looking into a career in computer animation, was diagnosed with Shwachman's Syndrome at 20 months. At the time, his mother, Lynn, recalls, they knew no one else with the syndrome which was identified in 1964. Today, the Brownings communicate by E-mail with some of the 200 other families who belong to Shwachman Syndrome Support International , started four years ago by Joan Mowery of St. Louis, Missouri, whose daughter, Michele, 35, is one of the oldest surviving patients. Gastroenterologist Peter Durie of HSC sits on a professional advisory board for the support group. Families from the support group from many countries are participating in a new genetic study at Sick Kids aimed at unraveling the mysteries of the little-understood syndrome. An estimated 1 in 50,000 persons is born with Shwachman's, which appears, on average, in one of four children when both parents carry the abnormal gene. Lynn Browning finds it encouraging that so many people on different continents are now sharing information and taking part in studies.
Rommens Lab - Links Learning from Genetic Research an article about shwachman syndromeResearch from the HSC Foundation Annual Report 1997-98. The http://www.genet.sickkids.on.ca/rommens/links.html
Extractions: Blazing a Genetic Trail (recommended) : A report from the Howard Hughes Medical Institute. This is an easy-to-understand explanation of genetic, molecular biology, inheritance, mapping of disease genes, gene therapy, etc. The discovery of cystic fibrosis gene is used as an example. (Dr. Rommens was a part of the HSC team which discovered the CF gene).
Washington University Medical News Louis with their 3 and 4-year-old daughters to attend the first internationalconference on shwachman syndrome, a rare genetic disorder that causes http://medicine.wustl.edu/~wumpa/news/shwachman.html
Extractions: St. Louis, Aug. 5, 1997 Al and Jenny Jenuwine of Allenton, Mich., will be traveling to St. Louis with their 3- and 4-year-old daughters to attend the first international conference on Shwachman Syndrome, a rare genetic disorder that causes malnutrition and a range of other physical problems in children. Emily and Kelsey Jenuwine are severely affected by the disease. The conference will be held at Washington University School of Medicine from 8 a.m. to 4 p.m. Aug. 8 and 9 in the Eric P. Newman Education Center, 320 S. Euclid Ave. The School of Medicine's Division of Pediatric Gastroenterology and St. Louis-based Shwachman Syndrome Support International are co-sponsoring the conference, which is open to health professionals and Shwachman patients and their families. Physicians and families from six countries, including Australia, will attend, and several prominent researchers will offer presentations. "I look at this conference as a first chance for physicians and families to get together to learn more about this unusual problem," said Robert J. Rothbaum, M.D., associate professor of pediatrics and the conference's program director.
