Results 1 to 10 of about 20,640 (292)

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 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

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

Severe transient neonatal hyperinsulinism: First Peruvian case series [PDF]

SAGE Open Medical Case Reports
Congenital hyperinsulinism is characterized by dysregulated insulin secretion and is the most common and severe cause of persistent hypoglycemia in pediatrics. Brain damage rates can be as high as 50% due to inadequate treatment.
Manuel André Virú-Loza, Francesca Bermudez-Paredes, Isabel Milagros Arauco-Carhuas   +2 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

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

Case Report: The importance of genetic counseling for families with hyperinsulinism [PDF]

Frontiers in Pediatrics
Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in infancy. Genotype-phenotype correlations directly inform medical care for patients.
Victoria R. Sanders, Victoria R. Sanders, Katherine Lord, Katherine Lord, Katherine Lord, Winnie M. Sigal, Winnie M. Sigal, Winnie M. Sigal, Heather McKnight, Heather McKnight, N. Scott Adzick, N. Scott Adzick, Lisa J. States, Lisa J. States, Tricia Bhatti, Tricia Bhatti, Diva D. De Leon, Diva D. De Leon, Diva D. De Leon   +18 more
doaj   +2 more sources

Variables associated with endogenous hyperinsulinism in hypoglycemia diagnosis. Could the 72-hour fasting test be shortened in low-risk patients? [PDF]

Journal of Clinical & Translational Endocrinology
Background: The 72-hour fasting test remains the standard for the diagnosis of endogenous hyperinsulinism. We investigated which variables could identify patients at low risk for endogenous hyperinsulinism, in whom a shortening of the 72-hour fasting ...
Tomás González-Vidal, Óscar Lado-Baleato, Inés Masid, Carmen Gándara-Gutiérrez, Gema Martínez-Tamés, Jessica Ares, Carmen Lambert, María Riestra-Fernández, Francisco Gude, Elías Delgado, Edelmiro Menéndez-Torre   +10 more
doaj   +2 more sources

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

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   +2 more sources