Results 121 to 130 of about 512,134 (262)

Retrospective study evaluating safety, clinical effect, and dosing of dalteparin for the treatment of venous thromboembolism in term neonates

Pediatric Blood &Cancer, Volume 71, Issue 10, October 2024.
Abstract Background There is an increased risk of venous thromboembolism (VTE) among neonates due to their unique hemostatic system. However, there is lack of approved treatment options for VTE in neonatal population. Importantly, dalteparin, a low molecular weight heparin approved for pediatric VTE in children ≥1 month of age, has also been used for ...
Nancy Sherman, Muhammad Younus, Kevin Wolter, Suresh Victor, Venkatesh Kairamkonda, Eleri Adams, Helen Brotherton, Elaine M. Boyle   +7 more
wiley   +1 more source

Sirolimus treatment of severe congenital hyperinsulinism [PDF]

International Journal of Pediatric Endocrinology, 2015
Sirolimus treatment reduced dependence on octreotide and frequent feeding in 4 infants with CHI in a recent study [1]. We report our experience in a 1 year-old boy with presumed diffuse disease due to a de novo heterozygous ABCC8 missense mutation (p.D1506E).
Charles F. Verge, Charles F. Verge, Helen J Woodhead, Helen J Woodhead, Lisa A Amato, Lisa A Amato, Jan L Walker, Jan L Walker, Charmian A. Quigley, Shihab Hameed, Shihab Hameed, Kris A Neville, Kris A Neville   +12 more
openaire   +2 more sources

Management aspects of congenital adrenal hyperplasia during adolescence and transition to adult care

Clinical Endocrinology, Volume 101, Issue 4, Page 332-345, October 2024.
Abstract The adolescent period is characterised by fundamental hormonal changes, which affect sex steroid production, cortisol metabolism and insulin sensitivity. These physiological changes have a significant impact on patients with congenital adrenal hyperplasia (CAH).
Chamila Balagamage, Amynta Arshad, Yasir S. Elhassan, Wogud Ben Said, Ruth E. Krone, Helena Gleeson, Jan Idkowiak   +6 more
wiley   +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

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   +3 more sources

When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population

American Journal of Medical Genetics Part A, Volume 194, Issue 8, August 2024.
Abstract Mental illnesses are one of the biggest contributors to the global disease burden. Despite the increased recognition, diagnosis and ongoing research of mental health disorders, the etiology and underlying molecular mechanisms of these disorders are yet to be fully elucidated.
Venuja Sriretnakumar, Ricardo Harripaul, James L. Kennedy, Joyce So   +3 more
wiley   +1 more source

Estudio PET-TC con 18F-fluoro-L-DOPA combinado con el análisis genético para la optimización de la clasificación y tratamiento de un niño con hiperinsulinismo congénito grave [PDF]

, 2009
BACKGROUND: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycaemia in infancy. The differential diagnosis between focal and diffuse forms of CHI is of great importance when planning surgery. The aim of this article is to
Arbizu, J. (Javier), Azcona-San-Julian, M.C. (María Cristina), Carracedo, A. (A.), Fernandez-Marmiesse, A. (A.), Garrastachu, P. (P.), Martino, E. (E.), Richter, J.A. (José Ángel)   +6 more
core  

Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, different phenotypes [PDF]

, 2018
Congenital hyperinsulinism (CHI) is a heterogenous disease caused by insulin secretion regulatory defects, being ABCC8/KCNJ11 the most commonly affected genes.
Barreiro Conde, Jesús, Cabanas Rodríguez, Paloma, Carracedo Álvarez, Ángel María, Castro Feijóo, Lidia, Fernández Marmiesse, Ana, Rego Sanmartín, María Teresa, Saborido Fiaño, Rebeca, Simões, Helder, Sousa Santos, Francisco   +8 more
core   +1 more source

Monogenic diabetes in a Chinese population with young‐onset diabetes: A 17‐year prospective follow‐up study in Hong Kong

Diabetes/Metabolism Research and Reviews, Volume 40, Issue 5, July 2024.
Abstract Aims Asians have a high prevalence of young‐onset diabetes, but the pattern of monogenic diabetes is unknown. We aimed to determine the prevalence of monogenic diabetes in Chinese patients with young‐onset diabetes and compare the clinical characteristics and outcome between patients with and without monogenic diabetes.
Sandra T. F. Tsoi, Cadmon Lim, Ronald C. W. Ma, Eric S. H. Lau, Baoqi Fan, Elaine Chow, Alice P. S. Kong, Juliana C. N. Chan, Andrea O. Y. Luk   +8 more
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