Results 71 to 80 of about 4,191 (204)

Unraveling the Interplay Between Metabolism and Neurodevelopment in Health and Disease

CNS Neuroscience &Therapeutics, Volume 31, Issue 5, May 2025.
Neurodevelopment is orchestrated by precise metabolic regulation. Key metabolic processes—glucose, lipid, and amino acid metabolism—drive cell proliferation, differentiation, synaptogenesis, and neurotransmitter synthesis. These are tightly integrated with signaling pathways like mTOR, AMPK, and insulin/IGF that regulate neuronal growth and synaptic ...
Yanqing He, Kang Xie, Kang Yang, Nianhua Wang, Longbo Zhang   +4 more
wiley   +1 more source

The diagnosis and management of congenital and adult-onset hyperinsulinism (nesidioblastosis) – literature review

Polish Journal of Pathology, 2017
Congenital and adult-onset hyperinsulinism (CHI) must be taken under consideration in the differential diagnosis of hypoglycaemia symptoms with endogenous hyperinsulinism, especially in cases in which there was failure to find an insulinoma. Histological
Adam M. Kowalewski, Łukasz Szylberg, Anna Kasperska, Andrzej Marszałek   +3 more
doaj   +1 more source

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

JIMD Reports, 2020
Background Phosphomannomutase 2 deficiency (PMM2‐CDG) is the most common congenital disorder of glycosylation (CDG). Hypoglycemia has been reported in various CDG including PMM2‐CDG.
Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, Gregory M. Enns, Carolyn Ellaway, Shanti Balasubramaniam, Pascale De Lonlay, David Coman, Saadet Mercimek‐Andrews, Peter Witters, Eva Morava   +10 more
doaj   +1 more source

Insulin Autoimmune Syndrome: A Chinese Expert Consensus Statement

AGING MEDICINE, Volume 8, Issue 1, February 2025.
ABSTRACT Insulin autoimmune syndrome (IAS) is a rare autoimmune disorder characterized by spontaneous hypoglycemia. The incidence of IAS is higher in East Asian populations compared to other populations. Delayed diagnosis and treatment can lead to recurrent hypoglycemia, significant glucose fluctuations, and adverse clinical outcomes, including life ...
Huabing Zhang, Ming Xia Yuan, Qi Pan
wiley   +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

The use of CGM to identify hypoglycemia and glycemic patterns in congenital hyperinsulinism [PDF]

, 2023
Martin Gariépy, Niyoosha Yoosefi, Carolina Silva, Jean‐Pierre Chanoine, Fatema S. Abdulhussein   +4 more
openalex   +1 more source

Persistent hyperinsulinism in Kabuki syndrome 2: case report and literature review

Clinics and Practice, 2016
Kabuki syndrome is a clinically and genetically heterogeneous congenital malformation syndrome with protean clinical manifestations. This reflects the important epigenetic role in embryonic development of the two genes currently known to be associated ...
Hobia Gole, Raymond Chuk, David Coman
doaj   +1 more source

Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non‐genetic risk factors in this group

, 2022
Thomas I. Hewat, Thomas W. Laver, Jayne Houghton, Jonna M. E. Männistö, Sabah Alvi, Stephen Brearey, Declan Cody, Antonia Dastamani, Miguel Ángel De los Santos-La Torre, Nuala Murphy, Birgit Rami‐Merhar, Birgit Wefers, Hanna Huopio, Indraneel Banerjee, Matthew B. Johnson, Sarah E. Flanagan   +15 more
openalex   +1 more source

Congenital Hyperinsulinism: Diagnosis and Treatment Update

Journal of Clinical Research in Pediatric Endocrinology, 2018
Pancreatic β-cells are finely tuned to secrete insulin so that plasma glucose levels are maintained within a narrow physiological range (3.5-5.5 mmol/L). Hyperinsulinaemic hypoglycaemia (HH) is the inappropriate secretion of insulin in the presence of low plasma glucose levels and leads to severe and persistent hypoglycaemia in neonates and children ...
Demirbilek, Hüseyin, Hussain, Khalid
openaire   +3 more sources

Proposal for a Standardized Protocol for ¹⁸F-DOPA-PET (PET/CT) in Congenital Hyperinsulinism [PDF]

, 2006
Klaus Mohnike, Oliver Blankenstein, Henrik Thybo Christesen, J. De Lonlay, Khalid Hussain, Klaas Pieter Koopmans, Heikki Minn, Wolfgang Mohnike, Angham Al Mutair, Timo Otonkoski, Jacques Rahier, M.J. Santiago Ribeiro, Ε. Schoenle, C Fekete   +13 more
openalex   +1 more source