نتایج جستجو برای: shwachman
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We have prospectively screened our patients with cystic fibrosis for allergic bronchopulmonary aspergillosis. Over a three year period eight patients were identified, an incidence of 5-8%. Patients were clinically weli at the time of diagnosis (Shwachman scores 70-90, Chrispin-Norman chest x ray scores 2-15) and they responded rapidly to treatment with oral prednisolone. There has been little d...
The technique of small bowel biopsy is now well established in childhood, but reports have largely concentrated on the histological appearances and enzyme activity of the biopsied mucosa (Anderson and Townley, 1962; Burke, Kerry, and Anderson, 1965; Kerpel-Fronius, Jani, and Fekete, 1966; Kuitunen, 1966; Launiala, Kuitunen, and Visakorpi, 1966; Nordio, Lamedica, Berio, and Vignola, 1966; Townle...
Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by pancreatic exocrine insufficiency and bone marrow failure, often associated with neurodevelopmental and skeletal abnormalities. Mutations in the SBDS gene have been shown to cause SDS. The purpose of this document is to provide draft guidelines for diagnosis, evaluation of organ and system abnormalities, and tr...
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