Results 31 to 40 of about 20,640 (292)

Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non‐genetic risk factors in this group

Pediatric Diabetes, 2022
Hyperinsulinism results from inappropriate insulin secretion during hypoglycaemia. Down syndrome is causally linked to a number of endocrine disorders including Type 1 diabetes and neonatal diabetes.
Thomas I. Hewat, T. Laver, J. Houghton, Jonna M E Männistö, S. Alvi, Stephen P. Brearey, D. Cody, A. Dastamani, Miguel De Los Santos La Torre, N. Murphy, B. Rami-Merhar, Birgit Wefers, H. Huopio, I. Banerjee, Matthew B. Johnson, S. Flanagan   +15 more
semanticscholar   +1 more source

SUR1-mutant iPS cell-derived islets recapitulate the pathophysiology of congenital hyperinsulinism

Diabetologia, 2021
Congenital hyperinsulinism caused by mutations in the KATP-channel-encoding genes (KATPHI) is a potentially life-threatening disorder of the pancreatic beta cells. No optimal medical treatment is available for patients with diazoxide-unresponsive diffuse
Väinö Lithovius, J. Saarimäki-Vire, Diego Balboa, Hazem Ibrahim, Hossam Montaser, Tom Barsby, T. Otonkoski   +6 more
semanticscholar   +1 more source

Transient congenital hyperinsulinism and hemolytic disease of a newborn despite rhesus D prophylaxis: a case report

Journal of Medical Case Reports, 2021
Background In neonates, rhesus D alloimmunization despite anti-D immunoglobulin prophylaxis is rare and often unexplained. Rhesus D alloimmunization can lead to hemolytic disease of the newborn with anemia and unconjugated hyperbilirubinemia.
Sandra Simony Tornoe Riis, Marianne Hoerby Joergensen, Kristina Fruerlund Rasmussen, Steffen Husby, Jane Preuss Hasselby, Lise Borgwardt, Klaus Brusgaard, Christina Ringmann Fagerberg, Henrik Thybo Christesen   +8 more
doaj   +1 more source

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

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

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

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

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

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

Congenital Hyperinsulinism

Contemporary endocrinology, 2020
Congenital hyperinsulinism (CHI or HI) is a condition leading to recurrent hypoglycemia due to an inappropriate insulin secretion by the pancreatic islet beta cells.
J. Arnoux, Pascale de Lonlay, Maria Ribeiro, Khalid Hussain, Oliver Blankenstein, Klaus Mohnike, V. Valayannopoulos, Jean-Jacques Robert, J. Rahier, Christine Sempoux, Christine Bellanné, Virginie Verkarre, Yves Aigrain, F. Jaubert, Francis Brunelle, Claire Nihoul-Fékété   +15 more
semanticscholar   +1 more source