نتایج جستجو برای: congenital hyperinsulinism

تعداد نتایج: 124753  

Journal: :Journal of Clinical Research in Pediatric Endocrinology 2018

Journal: :International Journal of Pediatric Endocrinology 2015

2017
Tohru Yorifuji Reiko Horikawa Tomonobu Hasegawa Masanori Adachi Shun Soneda Masanori Minagawa Shinobu Ida Takeo Yonekura Yoshiaki Kinoshita Yutaka Kanamori Hiroaki Kitagawa Masato Shinkai Hideyuki Sasaki Masaki Nio

Congenital hyperinsulinism is a rare condition, and following recent advances in diagnosis and treatment, it was considered necessary to formulate evidence-based clinical practice guidelines reflecting the most recent progress, to guide the practice of neonatologists, pediatric endocrinologists, general pediatricians, and pediatric surgeons. These guidelines cover a range of aspects, including ...

2009
Karen M. Brown Hassan Hal

Congenital (spontaneous) intrahepatic portosystemic shunt is rare in the English literature. Most cases of portosystemic shunt occur after trauma, surgery, liver biopsy or as a result of chronic portal hypertension. Chronic shunting may result in encephalopathy, bleeding or hyperinsulinism. We report a case of an asymptomatic adult female with a presumed congenital intrahepatic portosystemic sh...

2012
Akiko Saito-Hakoda Tohru Yorifuji Junko Kanno Shigeo Kure Ikuma Fujiwara

ABCC8 encodes the sulfonylurea receptor 1 (SUR1) subunits of the beta-cell ATP-sensitive potassium (K-ATP) channel playing a critical role in the regulation of insulin secretion, and inactivating mutations in ABCC8 cause congenital hyperinsulinism. Recently, ABCC8 inactivating mutations were reported to be involved in the development of diabetes mellitus later in life. We report a girl who was ...

Journal: :Annals of Pediatric Endocrinology & Metabolism 2014

Journal: :Diabetes 2005
Khalid Hussain Joseph Bryan Henrick T Christesen Klaus Brusgaard Lydia Aguilar-Bryan

The mechanisms involved in the release of glucagon in response to hypoglycemia are unclear. Proposed mechanisms include the activation of the autonomic nervous system via glucose-sensing neurons in the central nervous system, via the regulation of glucagon secretion by intra-islet insulin and zinc concentrations, or via direct ionic control, all mechanisms that involve high-affinity sulfonylure...

Journal: :Diabetes 2001
A Grimberg R J Ferry A Kelly S Koo-McCoy K Polonsky B Glaser M A Permutt L Aguilar-Bryan D Stafford P S Thornton L Baker C A Stanley

Mutations in the high-affinity sulfonylurea receptor (SUR)-1 cause one of the severe recessively inherited diffuse forms of congenital hyperinsulinism or, when associated with loss of heterozygosity, focal adenomatosis. We hypothesized that SUR1 mutations would render the beta-cell insensitive to sulfonylureas and to glucose. Stimulated insulin responses were compared among eight patients with ...

Journal: :Journal of Clinical Research in Pediatric Endocrinology 2015

Journal: :Open Access Journal of Endocrinology 2018

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