Results 11 to 20 of about 14,238 (246)

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

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

Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families

Orphanet Journal of Rare Diseases, 2022
Background Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and children, and carries a considerable risk of neurological damage and developmental delays if diagnosis and treatment are delayed. Despite rapid
Indraneel Banerjee, Julie Raskin, Jean-Baptiste Arnoux, Diva D. De Leon, Stuart A. Weinzimer, Mette Hammer, David M. Kendall, Paul S. Thornton   +7 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

The hypoglycaemia error grid: A UK-wide consensus on CGM accuracy assessment in hyperinsulinism

Frontiers in Endocrinology, 2022
ObjectiveContinuous Glucose Monitoring (CGM) is gaining in popularity for patients with paediatric hypoglycaemia disorders such as Congenital Hyperinsulinism (CHI), but no standard measures of accuracy or associated clinical risk are available. The small
Chris Worth, Chris Worth, Mark J. Dunne, Maria Salomon-Estebanez, Simon Harper, Paul W. Nutter, Antonia Dastamani, Senthil Senniappan, Indraneel Banerjee, Indraneel Banerjee   +9 more
doaj   +2 more sources

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

International Guidelines for the Diagnosis and Management of Hyperinsulinism

Hormone Research in Paediatrics, 2023
Background: Hyperinsulinism (HI) due to dysregulation of pancreatic beta-cell insulin secretion is the most common and most severe cause of persistent hypoglycemia in infants and children.
Diva D. De León, J. Arnoux, I. Banerjee, I. Bergadá, T. Bhatti, L. Conwell, Junfen Fu, S. Flanagan, D. Gillis, T. Meissner, K. Mohnike, Tai L. S. Pasquini, P. Shah, C. Stanley, A. Vella, T. Yorifuji, P. Thornton   +16 more
semanticscholar   +1 more source

Case Report: Two Distinct Focal Congenital Hyperinsulinism Lesions Resulting From Separate Genetic Events

Frontiers in Pediatrics, 2021
Focal hyperinsulinism (HI) comprises nearly 50% of all surgically treated HI cases and is cured if the focal lesion can be completely resected. Pre-operative localization of the lesion is thus critical.
Elizabeth Rosenfeld, Elizabeth Rosenfeld, Lauren Mitteer, Lauren Mitteer, Kara Boodhansingh, Kara Boodhansingh, Susan A. Becker, Susan A. Becker, Heather McKnight, Heather McKnight, Linda Boyajian, Linda Boyajian, Amanda M. Ackermann, Amanda M. Ackermann, Amanda M. Ackermann, Jennifer M. Kalish, Jennifer M. Kalish, Jennifer M. Kalish, Tricia R. Bhatti, Tricia R. Bhatti, Lisa J. States, Lisa J. States, N. Scott Adzick, N. Scott Adzick, Katherine Lord, Katherine Lord, Katherine Lord, Diva D. De León, Diva D. De León, Diva D. De León   +29 more
doaj   +1 more source

Syndromic forms of congenital hyperinsulinism

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.
M. Zenker, K. Mohnike, Katja Palm
semanticscholar   +1 more source

Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism

Nature Genetics, 2022
Gene expression is tightly regulated, with many genes exhibiting cell-specific silencing when their protein product would disrupt normal cellular function1.
M. Wakeling, Nick D. L. Owens, Jessica Hopkinson, Matthew B. Johnson, J. Houghton, A. Dastamani, Christine S. Flaxman, R. Wyatt, Thomas I. Hewat, J. J. Hopkins, T. Laver, Rachel A. van Heugten, M. Weedon, E. De Franco, K. Patel, S. Ellard, N. Morgan, E. Cheesman, I. Banerjee, A. Hattersley, M. Dunne, Ivo Liat Samar S. Khadija Nuzhat Floris Catarina Birgi Barić de Vries Hassan Humayun Levy-Khademi Limbert, I. Barić, L. de Vries, S. Hassan, K. Humayun, F. Levy‐Khademi, C. Limbert, B. Rami-Merhar, V. Mericq, K. Neville, Y. Ouarezki, Ana Tangari, C. Verge, E. Wiltshire, S. Richardson, S. Flanagan   +36 more
semanticscholar   +1 more source

New approaches to screening and management of neonatal hypoglycemia based on improved understanding of the molecular mechanism of hypoglycemia

Frontiers in Pediatrics, 2023
For the past 70 years, controversy about hypoglycemia in newborn infants has focused on a numerical “definition of neonatal hypoglycemia”, without regard to its mechanism.
Charles A. Stanley, Charles A. Stanley, Paul S. Thornton, Paul S. Thornton, Diva D. De Leon, Diva D. De Leon   +5 more
doaj   +1 more source