101. Shwachman-Diamond Syndrome shwachmanDiamond syndrome. Patients who present with increased volume andfrequency of fatty stools need testing for pancreatic function to rule out http://depts.washington.edu/registry/S-D.htm

Shwachman-Diamond Syndrome Patients who present with increased volume and frequency of fatty stools need testing for pancreatic function to rule out Shwachman-Diamond syndrome (SDS). SDS is an inherited ( autosomal recessive ) condition with multisystemic abnormalities including pancreatic insufficiency (problems with digestion of fats in the diet resulting in large volume fatty stools), neutropenia , and short stature. At the time of diagnosis the features of SDS are extremely variable. The vast majority of patients are diagnosed in infancy, with symptoms of fatty stools and poor growth, with or without haematological abnormalities (including neutropenia), but other less common features can also be present at diagnosis. These include (extreme) short stature, skeletal abnormalities, and marked liver enlargement . SDS must be considered even if clinical symptoms of pancreatic insufficiency are absent because a significant percentage of patients develop pancreatic insufficiency later, or indeed their symptoms may have resolved prior to the recognition of neutropenia. If neutropenia becomes severe, these patients also suffer from recurrent bacterial infections and treatment with

102. Health/Conditions And Diseases/Genetic Disorders/Shwachman Syndrome -- The Docto Ask the doctor. Get free medical consultation and advice. Choose a medicalspecialist and post your question! Doctors in all medical fields are available. http://www.thedoctorslounge.net/dir/Health/Conditions_and_Diseases/Genetic_Disor

Advertisement Powered by Careerbuilder Search for: Home Humor Advertising Contact ... Links Specialties Cardiology Chest diseases Dermatology Endocrinology ... Urology Other Sections Membership Research Tools Medical Tutorials Medical Software ... Specialized Centers Headlines: The Medical Website Directory Popular Categories Popular Links Web Sites report abuse/spam url: report-abuse.dmoz.org/?cat=Health/Conditions_and_D... The CaF Directory A definition of Shwachman syndrome, its inheritance pattern, pre-natal diagnosing and a support group in the United Kingdom. url: www.cafamily.org.uk/Direct/s24.html Katie's Journey Katie has Shwachman-Diamond Syndrome and needs a bone barrow transplant. Find disease information and links to support organizations. url: www.katiesjourney.50megs.com NORD: Shwachman Syndrome Offers a general discussion, the synonyms and further resources. url: www.rarediseases.org/search/rdbdetail_abstract.htm... Shwachman Syndrome A mothers story to diagnose this disorder before a team of doctors could. url: www.chariot.net.au/~dna/angelica.html

103. Shwachman Das shwachmanDiamond Syndrom wurde erstmals 1964 beschrieben. http://www.shwachman.de/

Shwachman http://shwachman.de/

104. Íàó÷íàÿ ìîíîãðàôèÿ î ïðåïàðàòå Êðåîí - Çàáî� The summary for this Russian page contains characters that cannot be correctly displayed in this language/character set. http://medi.ru/doc/1703006.htm

medi.ru Ìóêîâèñöèäîç (MB) ). Åñòü ñîîáùåíèÿ (1996 ã.) î 30-ëåòíåé ïðîäîëæèòåëüíîñòè æèçíè (CCF patient registry 1996; Annual Data Report). Ïðîöåíò âçðîñëûõ áîëüíûõ âûðîñ ñ 22,8% â 1977 ãîäó äî 31,3% â 1989 ãîäó 2. Tsui, L.-C. and Durie, P. Genotype and phenotype in cystic fibrosis. Hospital Practice 115-142 (1997) 3. Rosenstein, Â. J. and Zeitlin, P. L. Cystic fibrosis. The Lancet 351: 277-282 (1998) 4. Leonard, Ñ. Í. and Knox. A. J. Pancreatic enzyme supplements and vitamins in cystic fibrosis. J Hum Nutr Dietet 10: 3-16 (1997) 5. Aitken, M. L. and Fiel, S. B. Cystic fibrosis. Disease-a-Month 6-52 (1993) 6. George, D. E. et al. Comparison of two pancreatic enzyme supplements in patients with cystic fibrosis. Adv Ther 7(3): 109-118 (1990) 7. De Boeck, Ê. et al. Lipid digestion in cystic fibrosis: Comparison of conventional and high lipase enzyme therapy using the mixedtriglyceride breath test. J Red Gastroenterol Nut 26: 408-411 (1998) 8. Robinson, P. J. and Natoli, G. Comparison of high-dose and standarddose pancreatic enzyme capsules in children with cystic fibrosis. Aust J Hosp Pharm 28: 160-164 (1998) 9. Braden, Â. et al. Monitoring pancreatin supplementation in cystic fibrosis patients with the 13C-Hiolein breath test: evidence of normalized fat assimilation with high dose pancreatin therapy. Z Gastroenterol 35: 123-129 (1997)

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