Results 1 to 10 of about 4,191 (204)

Syndromic forms of congenital hyperinsulinism [PDF]

Frontiers in Endocrinology, 2023
Congenital hyperinsulinism (CHI), also called hyperinsulinemic hypoglycemia (HH), is a very heterogeneous condition and represents the most common cause of severe and persistent hypoglycemia in infancy and childhood.
Martin Zenker, Klaus Mohnike, Katja Palm
doaj   +4 more sources

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   +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   +3 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.
Indrė Petraitienė, Giedrius Barauskas, Antanas Gulbinas, Dalius Malcius, Khalid Hussain, Gilvydas Verkauskas, Rasa Verkauskienė   +6 more
doaj   +6 more sources

Real-world experience with the use of diazoxide among people living with congenital hyperinsulinism and their caregivers [PDF]

Frontiers in Endocrinology
IntroductionCongenital hyperinsulinism (HI) is a rare disease that causes severe hypoglycemia. Diazoxide is the first-line treatment; however, many individuals using diazoxide continue to experience hypoglycemia. Diazoxide is associated with side effects
Tai L. S. Pasquini, Kristen E. Rohli, Fiona J. Almeida, Indraneel Banerjee, Antonia Dastamani, Diva D. De Leon, Lauren N. Lopez, Paul S. Thornton, Julie Raskin   +8 more
doaj   +2 more sources

Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism [PDF]

Clinical Case Reports, 2020
Advances in genomics and 18F‐DOPA PET‐CT imaging have transformed the management of infants with Congenital Hyperinsulinism. Preoperative diagnosis of focal hyperinsulinism permits limited pancreatectomy with improved clinical outcomes while knowledge of
Caroline M. Joyce, Jayne A. Houghton, Domhnall J. O’Halloran, Paula M. O’Shea, Susan M. O’Connell   +4 more
doaj   +2 more sources

Congenital Hyperinsulinism India Association: An Approach to Address the Challenges and Opportunities of a Rare Disease [PDF]

Medical Sciences
India’s population complexity presents varied challenges in genetic research, and while facilities have gained traction in tier-1 and -2 cities, reliance on international collaborations often delays such investigations.
Jaikumar B. Contractor, Venkatesan Radha, Krati Shah, Praveen Singh, Sunil Tadepalli, Somashekhar Nimbalkar, Viswanathan Mohan, Pratik Shah   +7 more
doaj   +2 more sources

Developing a congenital hyperinsulinism prioritized research agenda: a patient-driven international collaborative research network [PDF]

Frontiers in Endocrinology
IntroductionCongenital Hyperinsulinism (HI) is a rare disease that causes severe and recurrent hypoglycemia due to dysregulated insulin secretion. HI is the most frequent cause of severe, persistent hypoglycemia in newborns and children.
Tai L. S. Pasquini, Indraneel Banerjee, Henrik Thybo Christesen, Louise S. Conwell, Antonia Dastamani, Diva D. De Leon, Sarah E. Flanagan, David Gillis, Jennifer M. Kalish, Katherine Lord, Mahlet Mesfin, Jennifer Schmitt, Senthil Senniappan, Charles A. Stanley, Paul S. Thornton, David Zangen, Julie Raskin, the Congenital Hyperinsulinism Collaborative Research Network Members   +17 more
doaj   +2 more sources

Expanding the phenotype of CARS1 variants to include congenital hyperinsulinism [PDF]

BMC Medical Genomics
Background CARS1 loss of function compound heterozygous or homozygous variants have been reported in five individuals to cause a neurodevelopmental phenotype that includes microcephaly and brittle hair and nails.
Victoria R. Sanders, Andrew C. Edmondson, Albert C. Yan, Diva D. De Leon   +3 more
doaj   +2 more sources

Global Registries in Congenital Hyperinsulinism

Frontiers in Endocrinology, 2022
Congenital hyperinsulinism (HI) is the most frequent cause of severe, persistent hypoglycemia in newborn babies and children. There are many areas of need for HI research.
Tai L. S. Pasquini, Mahlet Mesfin, Jennifer Schmitt, Julie Raskin   +3 more
doaj   +3 more sources