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6 резултата
[Leonine facies in carcinoid syndrome].
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Carcinoid syndrome is a rare disorder caused when elevated levels of vasoactive substances secreted by a carcinoid tumor fail to be metabolized by the liver. This can occur for a variety of reasons including metastatic invasion of the organ. Carcinoid syndrome results in elevated levels of
Trichohepatoenteric syndrome: founder mutation in asian indians.
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Trichohepatoenteric syndrome (THES) is characterized by chronic diarrhea, dysmorphic facies and hair abnormalities. Hepatic involvement varies from no abnormality to cirrhosis and hemochromatosis. Recently, mutations in the tetratricopeptide repeat domain 37 (TTC37) gene were identified to cause
Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type.
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Two unrelated infants with a new disorder characterized biochemically by elevated levels of free sialic acid in urine, serum, and cell lysates have exhibited severe mental and physical impairments since the early weeks of life. Three other biochemically diagnosed cases and two possible cases from
Whole exome sequencing revealed mutations in FBXL4, UNC80, and ADK in Thai patients with severe intellectual disabilities.
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Intellectual disabilities (ID) are etiologically heterogeneous. Advanced molecular techniques could be helpful in identification of the underlying genetic defects. We aimed to characterize clinical and molecular features of three Thai patients with ID. Patient 1 had ID, hypotonia and lactic
Enteral nutritional therapy for induction of remission in Crohn's disease.
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Corticosteroids are often preferred over enteral nutrition (EN) as induction therapy for Crohn's disease (CD). Prior meta-analyses suggest that corticosteroids are superior to EN for induction of remission in CD. Treatment failures in EN trials are often due to poor compliance, with dropouts
Extrapontine Myelinolysis and Reversible Parkinsonism After Hyponatremia Correction in a Case of Pituitary Adenoma: Hypopituitarism as a Predisposition for Osmotic Demyelination.
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BACKGROUND
Osmotic demyelination syndrome commonly follows rapid correction of hyponatremia. Although pons is a common location, extrapontine locations, such as striatum and thalamus, have been reported.
METHODS
A 48-year-old woman presented with masked facies, shuffling gait, and pill-rolling
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