Results 41 to 50 of about 5,897 (164)

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

Congenital hyperinsulinism with hyperammonaemia

BMJ Case Reports, 2010
Congenital hyperinsulinism is considered to be the most frequent cause of persistent recurrent hypoglycaemia in infants. The clinical presentation and response to pharmacological treatment may vary significantly depending on the underlying pathology. We report a case of a female infant with mild but early onset of recurrent hypoglycaemia.
Alex, Pschibul, Jörg, Müller, Hubert, Fahnenstich   +2 more
openaire   +3 more sources

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single‐Center Experience

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan, Andrew M. George, Evan R. Hathaway, Carlyn Glatts, Jennifer M. Kalish   +4 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  

Assessing the consequences of gestational diabetes mellitus on offspring's cardiovascular health: MySweetHeart Cohort study protocol, Switzerland. [PDF]

, 2017
Gestational diabetes mellitus (GDM) is a state of glucose intolerance with onset during pregnancy. GDM carries prenatal and perinatal risks as well as long-term risks for the mother and her child.
Bovet, P., Chiolero, A., Di Bernardo, S., Epure, A.M., Estoppey Younes, S., Mivelaz, Y., Sekarski, N., Simeoni, U., Vial, Y.   +8 more
core   +1 more source

A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA)

JIMD Reports, Volume 66, Issue 6, November 2025.
ABSTRACT Combined malonic and methylmalonic aciduria (CMAMMA) is an inborn error of metabolism caused by a deficiency in mitochondrial malonyl‐CoA synthetase, the enzyme responsible for activating malonic acid (MA) to malonyl‐CoA, a precursor of lipoic acid.
Vincenza Gragnaniello, Alfonso Galderisi, Sara Tucci, Mara Doimo, Marianna Caterino, Christian Loro, Chiara Cazzorla, Margherita Ruoppolo, Leonardo Salviati, Alberto B. Burlina   +9 more
wiley   +1 more source

Bilateral Adrenal Mass Secondary to Bilateral Infantile Neuroblastoma in an Infant With Beckwith‐Wiedemann Syndrome

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Infants with Beckwith‐Wiedemann syndrome face a high risk of embryonal tumors, necessitating early and consistent surveillance. This case illustrates how timely imaging and biochemical monitoring enabled successful non‐surgical management of bilateral adrenal neuroblastoma.
Mulualeme Nigusie, Gashaw Arega, Abel Hailu, Abreham Kassahun, Getasew Fikad, Tigest Chalachew, Bargude Balta   +6 more
wiley   +1 more source

Permanent diabetes during the first year of life: multiple gene screening in 54 patients [PDF]

, 2010
Aims/hypothesis. Investigate the genetic etiology of permanent diabetes mellitus with onset in the first 12 months of age. Methods. We studied forty-six probands with permanent, insulin-requiring diabetes with onset within the first 6 months of life (
Aguilar Bryan L, Barbetti F, Bernardini L, Bizzarri C, Bonfanti R, Brescianini S, Cerutti F, Colombo C, Gargantini L, Grasso V, Iafusco D, ISPED Early Diabetes Study Group, Iughetti L, LORINI, RENATA GIUSEPPINA, Monciotti C, Nocerino V, Pesavento R, Russo L, Stazi MA, Toni S, Vanelli M   +20 more
core   +5 more sources

The use of octreotide in pediatric patients: Practical applications for gastrointestinal disorders and beyond: A narrative review

Nutrition in Clinical Practice, Volume 40, Issue 5, Page 1040-1052, October 2025.
Abstract Somatostatin is a naturally occurring polypeptide hormone that exerts its effect on the gastrointestinal tract by reducing exocrine and endocrine secretion, resulting in decreased motility, gastric emptying, splanchnic blood flow, fat absorption, lymphatic flow, and gallbladder contraction.
Bailey Dunn, Megan Foxe, Kathy Hunter Sprott, Jessica E. Hook, Candi Jump   +4 more
wiley   +1 more source

Strategies for optimization of hypoglycemia rat models

Animal Models and Experimental Medicine, Volume 8, Issue 9, Page 1590-1610, September 2025.
This review focuses on rat models for studying the short‐term and long‐term effects of mild and severe hypoglycemia. We explored the physiological mechanisms to understand the consequences of hypoglycemia in rat experimental models. This study sheds light on uncovering the therapeutic potential for hypoglycemic patients and its efficacy in mitigating ...
Lee Yeong Zher, Eason Kong Qi Zheng, Rayneshia Elaura Raymond, Ye Zhen Jie, Christina Gertrude Yap   +4 more
wiley   +1 more source