Results 141 to 150 of about 510,633 (288)

Syndromic Forms of Hyperinsulinaemic Hypoglycaemia A 15-year follow-up Study [PDF]

, 2021
OBJECTIVE: Hyperinsulinaemic hypoglycaemia (HH) is one of the commonest causes of hypoglycaemia in children. The molecular basis includes defects in pathways that regulate insulin release.
Caiulo, S, Clement, E, Dastamani, A, Dattani, M, Gilbert, C, Güemes, M, Hurst, JA, Kostopoulou, E, Shah, P, Shanmugananda, P   +9 more
core  

Bardet‐Biedl syndrome: A clinical overview focusing on diagnosis, outcomes and best‐practice management

Diabetes, Obesity and Metabolism, Volume 26, Issue S2, Page 25-33, April 2024.
Abstract Bardet‐Biedl syndrome (BBS) is a genetic disorder characterized by early‐onset obesity, polydactyly, genital and kidney anomalies, developmental delay and vision loss due to rod‐cone dystrophy. BBS is an autosomal recessive disorder with >20 implicated genes.
Ashley Shoemaker
wiley   +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

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  

Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation [PDF]

, 2013
Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc.Next-generation sequencing (NGS) enables analysis of the human genome on a scale previously unachievable by Sanger sequencing.
Akcay, T, Banerjee, I, Bas, F, Berberoglu, M, Caswell, Richard, Clayton, PE, Clayton, PT, Damhuis, A, Darendeliler, F, Ellard, Sian, Flanagan, SE, Green, Andrew, Guven, A, Hussain, K, Murphy, N, O'Sullivan, M, Ocal, G, Siklar, Z, Vianey-Saban, C, Weedon, Michael N., Xie, W   +20 more
core   +1 more source

Treatment of hypoglycemia due to a rare pathogenic variant in AKT2 with waxy maize heat‐modified starch

Clinical Case Reports, Volume 12, Issue 2, February 2024.
WMHS is an effective treatment option for maintaining euglycemia in patients with activitating AKT2 mutations. Key Clinical Message The gain‐of‐function AKT2 c.49G>A variant causes hypoketotic hypoglycemia with variable associated features. Due to lack of effective medications, treatment is primarily supportive.
Madeline Parker, Daphne Yau
wiley   +1 more source

Automatic Tissue Segmentation with Deep Learning in Patients with Congenital or Acquired Distortion of Brain Anatomy [PDF]

arXiv, 2020
Brains with complex distortion of cerebral anatomy present several challenges to automatic tissue segmentation methods of T1-weighted MR images. First, the very high variability in the morphology of the tissues can be incompatible with the prior knowledge embedded within the algorithms.
arxiv  

Postbariatric surgery hypoglycemia: Nutritional, pharmacological and surgical perspectives

Diabetes/Metabolism Research and Reviews, Volume 40, Issue 2, February 2024.
Abstract Post‐bariatric hypoglycaemia (PBH) is a metabolic complication of bariatric surgery (BS), consisting of low post‐prandial glucose levels in patients having undergone bariatric procedures. While BS is currently the most effective and relatively safe treatment for obesity and its complications, the development of PBH can significantly impact ...
Giovanni Rossini, Renata Risi, Lavinia Monte, Biagio Sancetta, Maria Quadrini, Massimiliano Ugoccioni, Davide Masi, Rebecca Rossetti, Rossella D’Alessio, Rossella Mazzilli, Giuseppe Defeudis, Carla Lubrano, Lucio Gnessi, Mikiko Watanabe, Silvia Manfrini, Dario Tuccinardi   +15 more
wiley   +1 more source

Clinical practice guidelines for congenital hyperinsulinism

Clinical Pediatric Endocrinology, 2017
Congenital hyperinsulinism is a rare condition, and following recent advances in diagnosis and treatment, it was considered necessary to formulate evidence-based clinical practice guidelines reflecting the most recent progress, to guide the practice of neonatologists, pediatric endocrinologists, general pediatricians, and pediatric surgeons.
Shinobu Ida, Reiko Horikawa, Yutaka Kanamori, Hideyuki Sasaki, Yoshiaki Kinoshita, Masanori Adachi, Masanori Minagawa, Tohru Yorifuji, Tomonobu Hasegawa, Hiroaki Kitagawa, Masato Shinkai, Takeo Yonekura, Masaki Nio, Shun Soneda   +13 more
openaire   +3 more sources

Congenital hyperinsulinism: current trends in diagnosis and therapy [PDF]

, 2011
Congenital hyperinsulinism (HI) is an inappropriate insulin secretion by the pancreatic β-cells secondary to various genetic disorders. The incidence is estimated at 1/50, 000 live births, but it may be as high as 1/2, 500 in countries with substantial ...
Aigrain, Yves, Arnoux, Jean-Baptiste, Bellanné-Chantelot, Christine, Brassier, Anaïs, Brunelle, Francis, de Lonlay, Pascale, Fournet, Jean-Christophe, Montravers, Françoise, Robert, Jean-Jacques, Saint-Martin, Cécile, Valayannopoulos, Vassili, Verkarre, Virginie   +11 more
core   +3 more sources