Results 81 to 90 of about 6,576 (240)

Severe transient neonatal hyperinsulinism: First Peruvian case series

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   +1 more source

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

Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management [PDF]

, 2020
Hyperinsulinemic hypoglycemia (HH) is characterized by unregulated insulin release, leading to persistently low blood glucose concentrations with lack of alternative fuels, which increases the risk of neurological damage in these patients. It is the most
Flanagan, Sarah, Houghton, Jayne A. L.
core   +2 more sources

Glutamate induces autophagy via the two-pore channels in neural cells [PDF]

, 2016
NAADP (nicotinic acid adenine dinucleotide phosphate) has been proposed as a second messenger for glutamate in neuronal and glial cells via the activation of the lysosomal Ca2+ channels TPC1 and TPC2.
 , ,, Antonioli, M, Bincoletto, C, Fimia, G, Hirata, H, Nascimento, A, Pereira, G, Piacentini, M, Smaili, S, Ureshino, R, Vescovo, T   +11 more
core   +4 more sources

Congenital insulin resistance in the practice of the pediatrician and pediatric endocrinologist -path to diagnosis

Медицинский совет, 2021
Introduction. Hyperinsulinemic hypoglycemia in children is most commonly due to congenital hyperinsulinism. When hyperinsu-linemia is accompanied by fasting hypoglycemia and postprandial hyperglycemia, rare syndromes of severe insulin resistance, which ...
I. L. Nikitina, A. M. Todieva, A. S. Liskina, A. О. Plaksina, N. A. Petrova, I. A. Leonova, E. К. Kudryashova, A. A. Kostareva, J. I. Vasilyeva   +8 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

A novel mutation of gene in a patient with diazoxide-unresponsive congenital hyperinsulinism [PDF]

Korean Journal of Pediatrics, 2016
Congenital hyperinsulinism (CHI) is a rare condition that can cause irreversible brain damage during the neonatal period owing to the associated hypoglycemia. Hypoglycemia in CHI occurs secondary to the dysregulation of insulin secretion.
Ji Sook Park, Hong-Jun Lee, Chan-Hoo Park   +2 more
doaj   +1 more source

MAGEL2 (patho‐)physiology and Schaaf–Yang syndrome

Developmental Medicine &Child Neurology, Volume 67, Issue 1, Page 35-48, January 2025.
Pathogenic variants in MAGEL2 cause Schaaf–Yang syndrome (SYS). MAGEL2 has diverse physiological functions, particularly in the human hypothalamus. Loss of function likely explains several SYS phenotypes. In addition it has become evident that neomorphic effects of truncated MAGEL2 proteins likely contribute to the severity of this complex ...
Tim Schubert, Christian P. Schaaf
wiley   +1 more source

iRegNet3D: three-dimensional integrated regulatory network for the genomic analysis of coding and non-coding disease mutations [PDF]

, 2017
The mechanistic details of most disease-causing mutations remain poorly explored within the context of regulatory networks. We present a high-resolution three-dimensional integrated regulatory network (iRegNet3D) in the form of a web tool, where we ...
Cooper, David Neil, Liang, Siqi, Mort, Matthew, Stenson, Peter D., Tippens, Nathaniel D., Yu, Haiyuan, Zhou, Yaoda   +6 more
core   +4 more sources

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