نتایج جستجو برای: hyperinsulinism

تعداد نتایج: 5435  

2009
Kenju Shimomura Sarah E Flanagan Brittany Zadek Mark Lethby Lejla Zubcevic Christophe A J Girard Oliver Petz Roope Mannikko Ritika R Kapoor Khalid Hussain Mars Skae Peter Clayton Andrew Hattersley Sian Ellard Frances M Ashcroft

K(ATP) channels regulate insulin secretion from pancreatic beta-cells. Loss- and gain-of-function mutations in the genes encoding the Kir6.2 and SUR1 subunits of this channel cause hyperinsulinism of infancy and neonatal diabetes, respectively. We report two novel mutations in the gating loop of Kir6.2 which cause neonatal diabetes with developmental delay (T293N) and hyperinsulinism (T294M). T...

Journal: :The Journal of clinical investigation 2014
Dana Avrahami Changhong Li Ming Yu Yang Jiao Jia Zhang Ali Naji Seyed Ziaie Benjamin Glaser Klaus H Kaestner

Children with focal hyperinsulinism of infancy display a dramatic, non-neoplastic clonal expansion of β cells that have undergone mitotic recombination, resulting in paternal disomy of part of chromosome 11. This disomic region contains imprinted genes, including the gene encoding the cell cycle inhibitor p57Kip2 (CDKN1C), which is silenced as a consequence of the recombination event. We hypoth...

2013
Jean-Claude Henquin Christine Sempoux Joelle Marchandise Sebastien Godecharles Yves Guiot Myriam Nenquin Jacques Rahier

Congenital hyperinsulinism causes persistent hypoglycemia in neonates and infants. Most often, uncontrolled insulin secretion (IS) results from a lack of functional K(ATP) channels in all β-cells or only in β-cells within a resectable focal lesion. In more rare cases, without K(ATP) channel mutations, hyperfunctional islets are confined within few lobules, whereas hypofunctional islets are pres...

2011
Leonard A. Fahien Michael J. MacDonald

Leucine is the only physiologic amino acid that can stimulate insulin release by itself, and a great deal of evidence suggests that leucine does this by allosterically activating glutamate dehydrogenase (GDH). GDH catalyzes the oxidative deamination of endogenous glutamate, which is present at a high concentration in the pancreatic b-cell. Studies that support this role of leucine include the f...

Journal: :Journal of nuclear medicine : official publication, Society of Nuclear Medicine 2008
Pieter L Jager Raman Chirakal Christopher J Marriott Adrienne H Brouwers Klaas Pieter Koopmans Karen Y Gulenchyn

In recent years, 6-l-18F-fluorodihydroxyphenylalanine (18F-DOPA) PET has emerged as a new diagnostic tool for the imaging of neuroendocrine tumors. This application is based on the unique property of neuroendocrine tumors to produce and secrete various substances, a process that requires the uptake of metabolic precursors, which leads to the uptake of 18F-DOPA. This nonsystematic review first d...

Journal: :The Tohoku journal of experimental medicine 1968
K Yoshikawa

The intravenous Na-tolbutamide test was done on various types of hypoglyce mia and the following conclusions were obtained: (1) Though very useful in the screening of hypoglycemia, the test is not always satisfactory for the differential diagnosis of various types of hypoglycemia. (2) The diagnosis of hypoglycemia by means of the Na-tolbutamide test is con sidered practically established when t...

Journal: :Diabetes care 2000
A Festa R D'Agostino C N Hales L Mykkänen S M Haffner

OBJECTIVE Elevated heart rate has been predictive of cardiovascular disease and has been proposed as a global index of the autonomic nervous system influence on the heart. Hyperinsulinism has been shown to trigger sympathetic activity experimentally; however, the clinical and epidemiological data on the association of heart rate with hyperinsulinism and insulin resistance are conflicting. RES...

Journal: :Diabetes 1993
J A Colwell

One prevailing point of view is that many individuals with established type II diabetes have gone through years of impairment of glucose tolerance and hyperinsulinism before the appearance of fasting hyperglycemia (1,2). Peripheral insulin resistance plus a pancreatic p-cell insulin secretory defect presumably wage a battle over the years that results ultimately in clinically apparent type II d...

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