Familial case of congenital hyperinsulinism associated with mutation in the GLUD1 gene

Diazoxide-unresponsive congenital hyperinsulinism associated with ABCC8 nonsense mutation

Case presentation A baby boy with birth weight of 2.4kg at 35 weeks was born via Caesarian section. The boy was allowed feeding on demands, however he had the first onset of hypoglycemia at 2 hours of life. His blood sugar ranged from low reading to 2.5 mmol/L. The patient was treated with boluses of intravenous dextrose D10% followed by maintenance dextrose with its increasing strength in orde...

A Novel Intragenic SLC16A1 Mutation Associated With Congenital Hyperinsulinism

Congenital Hyperinsulinism Caused by a De Novo Mutation in the ABCC8 Gene - A Case Report

Congenital hyperinsulinism (CHI) is a rare genetic disorder characterized by inappropriate insulin secretion and severe hypoglycaemia. There are two histological subtypes: diffuse and focal form. Diffuse form is most common in autosomal recessive mutations in ABCC8/KCNJ11 gene, while focal CHI is caused a paternally inherited mutation and a somatic maternal allele loss. Here we report a case of...

the study of aaag repeat polymorphism in promoter of errg gene and its association with the risk of breast cancer in isfahan region

چکیده: سرطان پستان دومین عامل مرگ مرتبط با سرطان در خانم ها است. از آنجا که سرطان پستان یک تومور وابسته به هورمون است، می تواند توسط وضعیت هورمون های استروئیدی شامل استروژن و پروژسترون تنظیم شود. استروژن نقش مهمی در توسعه و پیشرفت سرطان پستان ایفا می کند و تاثیر خود را روی بیان ژن های هدف از طریق گیرنده های استروژن اعمال می کند. اما گروه دیگری از گیرنده های هسته ای به نام گیرنده های مرتبط به ا...

an investigation of the types of text reduction in subtitling: a case study of the persian film gilaneh with english subtitles

چکیده ندارد.