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1.
Qatar Medical Journal. 2010; 19 (2): 64-66
em Inglês | IMEMR | ID: emr-162900

RESUMO

Epithelial myoepithelial carcinomas [EMC] are rare carcinomas of the salivary glands. We report here the 6th case of this tumor which arises at the nasal cavity. In case of any histopathological report shows up a pleomorphic adenoma in an unusual site, we highly recommended the use of immunohistochemistry assay as an important tool for the diagnosis of this tumor

3.
International Journal of Endocrinology and Metabolism. 2009; 7 (2): 95-100
em Inglês | IMEMR | ID: emr-125372

RESUMO

Congenital hyperinsulinism [CHI], a clinically and genetically heterogeneous disease, is the most common cause of persistent hypoglycemia in infancy. It is characterized by the unregulated secretion of insulin from pancreatic beta-cells in relation to blood glucose concentration. The most common form of CHI is associated with autosomal recessive mutations in genes ABCC8 and KCNJ11, encoding the two subunits of the pancreatic beta-cells ATP sensitive potassium channel [KATP]. When the disease presents in the neonatal period, early diagnosis and maintenance of normoglycaemia are essential to prevent adverse neurodevelopmental outcomes. Prenatal diagnosis of CHI with a know mutation is a promising new avenue which will ensure early and appropriate postnatal intervention and improved long term outcome. We report a case of neonatal CHI due to homozygous recessive mutation in the ABCC8 gene. The parents were asymptomatic carriers of ABCC8 gene. A review of literature and update on the genetics of the disease is presented in this article


Assuntos
Humanos , Recém-Nascido , Feminino , Hipoglicemia/etiologia , Insulina
4.
Qatar Medical Journal. 2006; 15 (1): 68-71
em Inglês | IMEMR | ID: emr-80417

RESUMO

In a 45-year-old female with chronic uncontrolled hypertension complicated by hypokalemia, laboratory and radiological findings were consistent with an aldosterone producing adenoma [APA]. Diagnosis of Conn's syndrome was confirmed by histopathology. The hypokalemia resolved and her hypertension improved after laparoscopic adrenalectomy. Discussion of the case, diagnosis and treatment are presented


Assuntos
Humanos , Feminino , Hiperaldosteronismo/tratamento farmacológico , Hipopotassemia , Hipertensão , Adrenalectomia
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