Results 11 to 20 of about 10,576 (237)

Congenital Hyperinsulinism: Current Laboratory-Based Approaches to the Genetic Diagnosis of a Heterogeneous Disease [PDF]

Frontiers in Endocrinology, 2022
Congenital hyperinsulinism is characterised by the inappropriate release of insulin during hypoglycaemia. This potentially life-threatening disorder can occur in isolation, or present as a feature of syndromic disease.
Thomas I. Hewat, Matthew B. Johnson, Sarah E. Flanagan   +2 more
doaj   +6 more sources

Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity

Genome Medicine
Background We recently reported non-coding variants in a cis-regulatory element of the beta-cell disallowed gene hexokinase 1 (HK1) as a novel cause of congenital hyperinsulinism.
Jasmin J. Bennett, Cécile Saint-Martin, Bianca Neumann, Jonna M. E. Männistö, Jayne A. L. Houghton, Susann Empting, Matthew B. Johnson, Thomas W. Laver, Jonathan M. Locke, Benjamin Spurrier, Matthew N. Wakeling, Indraneel Banerjee, Antonia Dastamani, Hüseyin Demirbilek, John Mitchell, Markus Stange, International Congenital Hyperinsulinism Consortium, Klaus Mohnike, Jean-Baptiste Arnoux, Nick D. L. Owens, Martin Zenker, Christine Bellanné-Chantelot, Sarah E. Flanagan   +22 more
doaj   +4 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.
Indrė Petraitienė, Giedrius Barauskas, Antanas Gulbinas, Dalius Malcius, Khalid Hussain, Gilvydas Verkauskas, Rasa Verkauskienė   +6 more
exaly   +6 more sources

Recurrent Hypoglycemia in Two Late‐Preterm Infants With Transitional Disorder of Glucose Mobilization—Case Series [PDF]

Clinical Case Reports
Great emphasis is placed upon addressing hyperinsulinism in at‐risk infants with recurrent hypoglycemia. We report two preterm infants with recurrent nonhyperinsulinemic hypoglycemia due to transient impairment of glucose mobilization, warranting ...
Suresh Chandran, Yu Shan Ting, Skanthakumar Abhirami, Fabian Yap   +3 more
doaj   +3 more sources

Hyperinsulinism

Endocrines, 2022
Congenital or monogenic hyperinsulinism (HI) is a group of rare genetic disorders characterized by dysregulated insulin secretion and is the most common cause of persistent hypoglycemia in children.
Ethel Gonzales Clemente, Shibani Kanungo, Christine Schmitt, Dana Maajali   +3 more
doaj   +2 more sources

Clinical Report and Genetic Analysis of a Patient With Congenital Hyperinsulinism Hyperammonemia Caused by a Novel Missense Mutation in the Structural Domain of the Isoform of the GLUD1 Gene. [PDF]

Clin Case Rep
This patient was admitted to the hospital 43 h after birth with convulsions and hypoglycemia, presenting as recurrent refractory hypoglycemia that was difficult to control with conventional medication. Whole exome sequencing detected the GLUD1 (NM_005271.3:c.1495G>T, p.Gly499Cys) variant, which was a de novo variant in the patient and was not detected ...
Li T, Liu T, Li L, Liu Y, Zhang Q, Cheng X, Li Z.   +6 more
europepmc   +2 more sources

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

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   +2 more sources

Indocyanine Green (ICG)-Guided Identification of Hypermetabolic Pancreatic Nodules in Focal Congenital Hyperinsulinism: A Case Report in a 3-Month-Old Infant

European Journal of Pediatric Surgery Reports, 2022
Indocyanine green (ICG)-guided near-infrared fluorescence has been recently adopted in pediatric surgery, although its use in the treatment of congenital hyperinsulinism has not been reported.
Carlos Delgado-Miguel, Antonio Muñoz-Serrano, Lucas Moratilla, María del Carmen Sarmiento, Miriam Miguel-Ferrero, Nuria Leal, Saturnino Barrena, Leopoldo Martínez   +7 more
doaj   +2 more sources

Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency

JCRPE, 2022
INTRODUCTION: Phosphomannomutase 2 deficiency (PMM2-CDG) is a disorder of protein N-glycosylation with a wide clinical spectrum. Hypoglycemia is rarely reported in PMM2-CDG.
Doğuş Vurallı, Yılmaz Yıldız, Alev Ozon, Ali Dursun, Nazlı Gönç, Ayşegül Tokatlı, H. Serap Sivri, Ayfer Alikaşifoğlu   +7 more
doaj   +2 more sources

Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion. [PDF]

PLoS ONE, 2008
Although the most common mechanism underlying congenital hyperinsulinism is dysfunction of the pancreatic ATP-sensitive potassium channel, the pathogenesis and genetic origins of this disease remains largely unexplained in more than half of all patients.
M Mar González-Barroso, Irina Giurgea, Fredéric Bouillaud, Andrea Anedda, Christine Bellanné-Chantelot, Laurence Hubert, Yves de Keyzer, Pascale de Lonlay, Daniel Ricquier   +8 more
doaj   +2 more sources