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Search Results for "Non Heridetary Spherocytosis"

23:06 EDT 19th June 2013 | BioPortfolio

Original Source: Hereditary and non-hereditary syndromic gastointestinal stromal tumours.

The majority of gastrointestinal stromal tumours (GISTs) present as solitary gastrointestinal masses in adults aged 50-70 years. A small subset of GISTs (≤5%) occurs in the setting of familial or idiopathic multitumour syndrome. In decreasing order of frequency, neurofibromatosis Recklinghausen (NF-1), Carney triad (gastric GIST, pulmonary chondroma and extra-adrenal paraganglioma), familial GIST syndromes resulting from germline mutations in c-Kit/PDGFRA and the Carney-Stratakis syndrome (hereditary GIS...

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Hereditary spherocytosis.

Hereditary spherocytosis is a common hemolytic disorder characterized by a defect or deficiency in one or more of the proteins composing red blood cell membrane. As a result, red blood cells have an a...

A de novo interstitial deletion of 8p11.2 including ANK1 identified in a patient with spherocytosis, psychomotor developmental delay, and distinctive facial features.

The contiguous gene syndrome involving 8p11.2 is recognized as a combined phenotype of both Kallmann syndrome and hereditary spherocytosis, because the genes responsible for these 2 clinical entities,...

A neonate with Coombs-negative hemolytic jaundice with spherocytes but normal erythrocyte indices: a rare case of autosomal-recessive hereditary spherocytosis due to alpha-spectrin deficiency.

The diagnosis of hereditary spherocytosis (HS) in a newborn infant is generally made on the basis of a positive family history, spherocytes on blood film and Coombs-negative hemolytic jaundice of vari...

Erythrocyte-bound immunoglobulin isotypes in dogs with immune-mediated hemolytic anemia: 54 cases (2001-2010).

Objective-To identify erythrocyte-bound immunoglobulin (Ig) isotypes in dogs with primary immune-mediated hemolytic anemia (IMHA). Design-Retrospective case series. Animals-54 dogs with IMHA. Procedur...

Evaluating neonatal hyperbilirubinemia in late preterm Hispanic twins led to the diagnosis of hereditary spherocytosis in them, and in their sibling and in their mother.

We identified four cases of hereditary spherocytosis (HS) in one Utah family, originally from Southwestern Mexico. The index cases were twin girls born at 35 weeks gestation, in whom the combination o...

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