Sindrome Shwachman Syndrome Bambi Translate this page Sindrome di Shwachman shwachman syndrome. Associazione italiana Sindrome di Shwachman http//www.geocities.com/HotSprings/Spa/7540 http//www.xmission.com http://antares.fastnet.it/enti/bambi/sindrome-shwachman.htm
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.
Entrez PubMed Steatorrhea and pancreatic insufficiency in shwachman syndrome. Hill RE, Durie PR, Gaskin KJ, Davidson GP, Forstner GG. Fat absorption http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstra
Shwachman Syndrome Disease shwachman syndrome. shwachman syndrome Support Australia - provides information and support to families and people with shwachman syndrome. http://www.cannylink.com/diseaseshwachmansyndrome.htm
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Shwachman Syndrome - Disease Information First described in 1964, ShwachmanDiamond Syndrome is a rare disease which mainly involves the pancreas, bone marrow and skeleton, but other organs may also http://www.xmission.com/~nobull/detail.html
Extractions: First described in 1964, Shwachman-Diamond Syndrome is a rare disease which mainly involves the pancreas, bone marrow and skeleton, but other organs may also be affected. Next to Cystic Fibrosis, it is the most common cause of pancreatic insufficiency in children. For that reason, it is sometimes confused with Cystic Fibrosis; but in children with Shwachman-Diamond Syndrome the sweat test is normal. People with Shwachman-Diamond Syndrome usually have a decreased ability to digest food because the cells of the pancreas, in which digestive enzymes are produced, do not work properly. Additionally, there is usually a decreased number of at least one kind of blood cells. In some patients, there is a decrease in all kinds of blood cells. Most frequently, this decrease occurs in the number of neutrophils, the blood cell that is necessary to fight bacteria infections. Cause 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. Infants often become ill with symptoms by the age of four or six months old. Early problems include failure to thrive, feeding problems and recurrent infections. 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.
IDR Factfile For Shwachman Syndrome General information. Disease, shwachman syndrome. Alternative names Other resources. Publications, , Pubmed search for shwachman syndrome. http://bioinf.uta.fi/xml/idr/FF84.xml
Extractions: General information Disease Shwachman syndrome Alternative names: Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian syndrome; Lipomatosis of pancreas, congenital 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 Shwachman-Diamond syndrome; SDS 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.
Medical Experts - Shwachman Syndrome ASSOCIATIONS. Bar Associations Legal Associations Law Firms Attorneys. Medical Experts shwachman syndrome. AMFS, Inc. (American Medical Forensics). http://www.hg.org/experts/Medical-Experts-Shwachman-Syndrome.html
Extractions: AMFS is recognized as a leader in the field of medical-legal case review and expert witness testimony. Since 1990 in more than 35,000 medical-legal cases for plaintiff and defendant, AMFS experts have consistently delivered. AMFS is the only medical forensic consulting group staffed exclusively by board-certified in-house physicians.
Extractions: Web Pages - ranked by popularity Shwachman-Diamond Syndrome International http://www.shwachman-diamond.org/ Support organization helping the victims of this disease. Provides a network for families to receive information, advocacy, and emotional support, and keep abreast of the most current medical information available. The CaF Directory http://www.cafamily.org.uk/Direct/s24.html A definition of Shwachman syndrome, its inheritance pattern, pre-natal diagnosing and a support group in the United Kingdom. Pediatric Database http://www.icondata.com/health/pedbase/files/SHWACHMA.HTM A definition of Shwachman-Diamond syndrome, the epidemiology, pathogenesis, clinical features, investigations and management. Shwachman-Diamond America http://shwachmandiamondamerica.org Profiles SDA, a nonprofit that educates doctors and families about shwachman-diamond syndrome and also supports research.
Extractions: Front Page Today's Digest Week in Review Email Updates ... Genetic Disorders Shwachman Syndrome (7 links) See Also: News about Shwachman Syndrome New Cardiac Arrhythmia Syndrome Identified (June 1, 2004) full story Silence Of The Genes: Researchers Provide Unique View Of Inherited Disorders And Cancer (June 1, 2004) full story UW-Madison Scientists Find A Key To Cell Division (May 28, 2004) full story Vaccines Against Foodborne Disease On Horizon (May 25, 2004) full story Discovery Of Gene For Cornelia De Lange Syndrome Discovery May Lead To Prenatal Test For Debilitating Disorder (May 20, 2004)
Shwachman Syndrome Translate this page INFORMAZIONI SULLA SINDROME DI SHWACHMAN. a cura della. Associazione Italiana Sindrome di Shwachman - AISS. Questa è una sintesi http://web.genie.it/utenti/g/gargano/shwachman.html
Extractions: Il midollo osseo produce diversi tipi di cellule sanguigne. I globuli bianchi combattono le infezioni. I neutrofili sono un tipo di globuli bianchi che hanno la funzione di combattere i batteri. I globuli rossi trasportano ossigeno in ogni parte del corpo. Le cellule che contribuiscono alla coagulazione del sangue si chiamano piastrine. I soggetti con Sindrome di Shwachman hanno il midollo osseo che non funziona sempre in modo corretto.
Learning From Genetic Research People with shwachman syndrome are prone to infections especially sepsis 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.
Shwachman Syndrome From Linkspider UK Health Directory shwachman syndrome by Linkspider UK, shwachman syndrome links and shwachman syndrome topics from our Health directory. Helping you http://linkspider.co.uk/Health/ConditionsandDiseases/GeneticDisorders/ShwachmanS
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