Results 101 to 110 of about 20,640 (292)

Congenital hyperinsulinism

Tidsskrift for Den norske legeforening, 2023
This clinical review will give doctors who work with children and neonates an introduction to the diagnosis and treatment of congenital hyperinsulinism, the most common cause of persistent neonatal hypoglycaemia. The condition is a rare monogenic disorder characterised by elevated insulin secretion and is a result of mutations in genes that regulate ...
Christoffer Drabløs, Velde, Hallvard, Reigstad, Erling, Tjora, Hans Jørgen Timm, Guthe, Eirik Vangsøy, Hansen, Anders, Molven, Pål Rasmus, Njølstad   +6 more
openaire   +2 more sources

A Five‐Year Journey to Diagnosis: Resolving Persistent Hypoglycemia Through Successful Insulinoma Resection—A Case Report

Clinical Case Reports, Volume 13, Issue 3, March 2025.
ABSTRACT Insulinoma is a rare functional pancreatic neuroendocrine tumor with an annual prevalence of 0.5–5 cases per million. It is characterized by excessive insulin secretion, leading to recurrent hypoglycemia, often diagnosed through Whipple's triad: hypoglycemic symptoms, documented low plasma glucose, and symptom resolution after glucose ...
Ankit Shrestha, Anup Pandey, Paleswan Joshi Lakhey, Biraj Baral, Aakash Pandit, Achyut Marahatta, Amisha Seth   +6 more
wiley   +1 more source

Transient Neonatal Hypocortisolism in Neonates with Hypoglycemia – Coexistence or Cause?

Indian Journal of Endocrinology and Metabolism
Introduction: Infants born preterm, with low birth weight (LBW), or with perinatal stress are at high risk for neonatal hypoglycemia. Low cortisol levels have also been demonstrated in this group of neonates, which is often transient.
Sunetra Mondal, Lakshmi Nagendra, Amarta S. Chowdhury, Rajan Palui, Soumyadeep Biswas, Devdeep Mukherjee, Krishnendu Khan, Aritra Sengupta, Anupama Pandey   +8 more
doaj   +1 more source

Erythematous Papules and Plaques in an Infant Receiving Glucagon Therapy

JEADV Clinical Practice, EarlyView.
Sara Al Janahi, Alya Al‐Ali, Meera Al Adawi, Yusra S. Al Ali, Harish Bangalore   +4 more
wiley   +1 more source

Safety and Efficacy of DTX401, an AAV8‐Mediated Liver‐Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa)

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Glycogen storage disease type Ia (GSDIa) is a rare, life‐threatening, inherited carbohydrate metabolism disorder caused by glucose‐6‐phosphatase (G6Pase) deficiency, which is essential for glycogenolysis and gluconeogenesis. GSDIa management includes a strict medically prescribed diet that typically includes daily uncooked cornstarch doses ...
David A. Weinstein, Terry G. Derks, David F. Rodriguez‐Buritica, Ayesha Ahmad, María‐Luz Couce, John J. Mitchell, Rebecca Riba‐Wolman, Malaya Mount, Julieta Bonvin Sallago, Katalin M. Ross, Melanie M. van der Klauw, Foekje de Boer, Caroline van der Schaaf, Heather Saavedra, Miguel Martínez‐Olmos, Elvis Atanga, Asad Hosseini, Deepali Mitragotri, Eric Crombez   +18 more
wiley   +1 more source

Regulation of metabolism by miR-378 [PDF]

, 2014
The present invention provides a method of regulating fatty acid metabolism in a cell by contacting the cell with a modulator of miR-378 and/or miR-378* activity or expression.
Carrer, Michele, Olson, Eric N.
core   +1 more source

Visual interpretation, not SUV ratios, is the ideal method to interpret 18F-DOPA PET scans to aid in the cure of patients with focal congenital hyperinsulinism.

PLoS ONE, 2020
IntroductionCongenital hyperinsulinism is characterized by abnormal regulation of insulin secretion from the pancreas causing profound hypoketotic hypoglycemia and is the leading cause of persistent hypoglycemia in infants and children.
Pradeep K Garg, Burton Putegnat, Lisa Truong, Courtney Reynolds, Irene Sanchez, Jonathan K Nedrelow, John Uffman, Stephen J Lokitz, Rachid Nazih, Sudha Garg, Paul S Thornton   +10 more
doaj   +1 more source

Possible New Strategies for the Treatment of Congenital Hyperinsulinism

Frontiers in Endocrinology, 2020
Objective Congenital hyperinsulinism (CHI) is a rare disease characterized by persistent hypoglycemia as a result of inappropriate insulin secretion, which can lead to irreversible neurological defects in infants. Poor efficacy and strong adverse effects
J. Sikimić, T. Hoffmeister, A. Gresch, Julia K. Kaiser, W. Barthlen, C. Wolke, I. Wieland, U. Lendeckel, P. Krippeit-Drews, M. Düfer, G. Drews   +10 more
semanticscholar   +1 more source

Managing Hypoglycaemia in Patients With Insulinoma—A Tertiary Centre Experience and Review of the Literature

Clinical Endocrinology, Volume 102, Issue 3, Page 344-354, March 2025.
ABSTRACT The management of hypoglycaemia is pivotal in the care of patients with insulinoma. Blood glucose monitoring and regulation needs careful attention pre‐ and peri‐operatively for patients undergoing surgical resection and as part of the long‐term management for patients with inoperable or metastatic disease.
Sophie Howarth, Tak‐Wai Ho, James Wimbury, Ruth Casey   +3 more
wiley   +1 more source

Insulin-secreting tumors of the islets of Langerhans [PDF]

, 1958
Thesis (M.D.)—Boston ...
Robert Rodman
core