Results 41 to 50 of about 20,887 (300)

The p.(Gly111Arg) ABCC8 Variant: A Founder Mutation Causing Congenital Hyperinsulinism in the Indian Agarwal Community. [PDF]

Clin Genet
Loss‐of‐function ABCC8 variants are the commonest cause of congenital hyperinsulinism. On a systematic search of our databases, the p.(Gly111Arg) ABCC8 variant was identified in 26 individuals, of which 23 were from the Indian Agarwal community. Haplotype analysis subsequently confirmed that p.(Gly111Arg) is a founder variant in the Agarwal population.
Jain V, Radha V, Mohan V, Wakeling MN, Bennett JJ, Flanagan SE.   +5 more
europepmc   +2 more sources

Hyperinsulinism in a Neonate [PDF]

Pediatric Annals, 2014
A male patient was born small for gestational age (SGA) at 33 weeks with a birth weight of 1,663 grams (< 10th percentile) and length 43 cm (10th percentile) to a 38-year-old G5P4 mother by cesarean section due to non-reassuring fetal heart tones. Prior to delivery, his mother experienced decreased fetal movement and decelerations.
Siri Atma W. Greeley, Katherine Stanley, Owais Khan, Joseph R. Hageman, Michelle Blanco   +4 more
openaire   +3 more sources

Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations [PDF]

, 2010
Objective: The phenotype associated with heterozygous HNF4A gene mutations has recently been extended to include diazoxide responsive neonatal hypoglycemia in addition to maturity-onset diabetes of the young (MODY).
Ashcroft, B Schwahn, Clayton, D Cody, Ellard, Freeman, G Mali, I Banerjee, J P H Shield, K Hussain, Molven, N Murphy, O Rubio-Cabezas, R R Kapoor, S E Flanagan, S Ellard, Stanley, T Akcay, T Siahanidou, Thomas   +19 more
core   +2 more sources

Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations [PDF]

, 2009
Background: Activating mutations in the GLUD1 gene (which encodes for the intra-mitochondrial enzyme glutamate dehydrogenase, GDH) cause the hyperinsulinism–hyperammonaemia (HI/HA) syndrome.
Banerjee, I., Ben-Omran, T., Chadefaux, B., Chakrapani, A., Ellard, S., Flanagan, S. E, Fulton, P., Hussain, K., Kapoor, R. R, Shield, J. P   +9 more
core   +2 more sources

Continuous Glucose Monitoring in the Management of Neonates With Persistent Hypoglycemia and Congenital Hyperinsulinism

Journal of Clinical Endocrinology and Metabolism, 2021
Background Persistent hypoglycemia is common in the newborn and is associated with poor neurodevelopmental outcome. Adequate monitoring is critical in prevention, but is dependent on frequent, often hourly blood sampling.
M. Win, Rowan Beckett, Lynn Thomson, A. Thankamony, K. Beardsall   +4 more
semanticscholar   +1 more source

Congenital hyperinsulinism in a newborn presenting with poor feeding

SAGE Open Medical Case Reports, 2022
Hyperinsulinemic hypoglycemia is a condition linked to several genetic, metabolic, and growth disorders in which there is dysregulated insulin secretion.
Kiran Mazloom, Pedro A Sanchez-Lara, Seth Langston, Katheryn Grand, Bahareh Schweiger   +4 more
doaj   +1 more source

Laparoscopic Surgery for Focal-Form Congenital Hyperinsulinism Located in Pancreatic Head

Frontiers in Pediatrics, 2022
Background and AimsCongenital hyperinsulinism of infancy (CHI) is a rare condition that may cause irreversible severe neurological damage in infants. For children in whom medical management fails, partial or near-total pancreatectomy is then required ...
Zhe Wen, Jieqin Wang, Qifeng Liang, Xiaopan Chang, Wen Zhang, Huilin Niu, Qiao He   +6 more
doaj   +1 more source

Congenital hyperinsulinism

Medicina, 2014
Hyperinsulinism is the most common cause of hypoglycemia in infants. In many cases conservative treatment is not effective and surgical intervention is required. Differentiation between diffuse and focal forms and localization of focal lesions are the most important issues in preoperative management.
Dalius Malcius, Indrė Petraitienė, Rasa Verkauskienė, Antanas Gulbinas, Khalid Hussain, Giedrius Barauskas, Gilvydas Verkauskas   +6 more
openaire   +4 more sources

Facial Dysmorphic Features in a Patient With Nonketotic Hypoglycemia and a Pathogenic Variant in the AKT2 Gene

AACE Clinical Case Reports, 2022
Background/Objective: AKT2 is a serine/threonine kinase that plays a key role in regulating insulin signaling. The phenotype related to the gain-of-function alteration in the AKT2 gene (c.49G>A, p.Glu17Lys) has been described in 5 patients with clinical ...
Maria Fernanda Ochoa Molina, MD, Helena Poggi, Valeria De Toro, Carolina Mendoza, Khalid Hussain   +4 more
doaj   +1 more source

Brain injury due to persistent hyperinsulinemic hypoglycemia of infancy [PDF]

, 2007
A
De Visschere, Pieter, Senepart, Maarten, Seynaeve, Patrick, Vanrietvelde, Frederik   +3 more
core   +2 more sources