The Heterogeneity of Focal Forms of Congenital Hyperinsulinism
نویسندگان
چکیده
منابع مشابه
Heterogeneity in Phenotype of Usher-Congenital Hyperinsulinism Syndrome
OBJECTIVE To evaluate the phenotype of 15 children with congenital hyperinsulinism (CHI) and profound hearing loss, known as Homozygous 11p15-p14 Deletion syndrome (MIM #606528). RESEARCH DESIGN AND METHODS Prospective clinical follow-up and genetic analysis by direct sequencing, multiplex ligation-dependent probe amplification, and microsatellite markers. RESULTS Genetic testing identified...
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from 1950s onward, new theories and critical approaches burgeoned across humanities. these theories were context-oriented; as a result, the analysis of discursive practices gained significance. thus, social, political, historical and cultural discourses that have been hitherto marginalized and considered inferior to literary texts, were introduced as important texts to be analyzed by critics. o...
[Congenital hyperinsulinism].
In the last five years, our knowledge about the heterogenous syndrome of congenital hyperinsulinism (HI) has expanded explosively. HI may be familiar or sporadic, mild or severe, transitory or persistent, and histologically focal or diffuse. At least 63 disease-causing mutations have been found in the genes for the beta cell's ATP-dependent potassium channel, whose elements are the sulphonylure...
متن کاملCoexistence in the same family of both focal and diffuse forms of hyperinsulinism.
N eonatal hyperinsulinism is the most important cause of hypoglycemia in infancy (1,2). The inappropriate oversecretion of insulin is responsible for profound hypoglycemia, requiring aggressive treatment to prevent brain damage (1–3). Neonatal hyperinsulinism is often resistant to medical therapy (1–4), and pancreatectomy is required for many sufferers (1,5–6). The histopathological lesions ass...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2012
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2011-1628