Results 61 to 70 of about 265,208 (194)

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2099-2105, September 2026.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

European Society for Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) steatotic liver disease special interest group position paper on screening, diagnosis and investigation of paediatric metabolic dysfunction‐associated steatotic liver disease

Journal of Pediatric Gastroenterology and Nutrition, Volume 83, Issue 3, Page 555-576, September 2026.
Abstract Metabolic dysfunction‐associated steatotic liver disease (MASLD) is the most common reason for elevated liver enzymes in children in Europe, affecting more than 5% of all children. Since the last iteration of this position paper, there have been substantial advances in our understanding of the disease.
Jake P. Mann, Sander Lefere, Maarten Buytaert, Anna Alisi, Cigdem Arikan, Jernej Brecelj, Rachel M. Brown, Irene Degrassi, Giulia Fiore, Emer Fitzpatrick, Sven Francque, Christian A. Hudert, Wojciech Janczyk, Lauren Johansen, Bart G. Koot, Anastasia Konidari, Eberhard Lurz, Claudia Mandato, Maria Mercadal‐Hally, Hadar Moran‐Lev, Antonella Mosca, Giusy Ranucci, Maria Rogalidou, Penelope C. Rose, Piotr Socha, Pietro Vajro, Elvira Verduci, Anita C. E. Vreugdenhil, Natalia Zavhorodnia, Aglaia Zellos, Ruth De Bruyne   +30 more
wiley   +1 more source

Pituitary stalk interruption syndrome presenting in a euthyroid adult with short stature

Radiology Case Reports, 2018
Pituitary stalk interruption syndrome (PSIS) is a distinct and rare clinical entity responsible for congenital hypopituitarism resulting in deficiency of pituitary hormones with deficiency of the growth hormone (100%) and gonadotropins (97.2%) being its ...
Atif Nawaz, MBBS, FCPS-I, FRCR-I, Muhammad Azeemuddin, MBBS,MCPS,FCPS, Jehanzeb Shahid, MBBS,FCPS-I   +2 more
doaj   +1 more source

Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis. [PDF]

J Clin Endocrinol Metab, 2019
AbstractContextCongenital hypopituitarism (CH) is rarely observed in combination with severe joint contractures (arthrogryposis). Schaaf-Yang syndrome (SHFYNG) phenotypically overlaps with Prader-Willi syndrome, with patients also manifesting arthrogryposis. L1 syndrome, a group of X-linked disorders that include hydrocephalus and lower limb spasticity,
Gregory LC, Shah P, Sanner JRF, Arancibia M, Hurst J, Jones WD, Spoudeas H, Le Quesne Stabej P, Williams HJ, Ocaka LA, Loureiro C, Martinez-Aguayo A, Dattani MT.   +12 more
europepmc   +6 more sources

Efficacy and Safety of Bariatric Surgery in Acquired Hypothalamic Obesity: A Systematic Review and Individual Patient Data Meta‐Analysis

Obesity Reviews, Volume 27, Issue 9, September 2026.
ABSTRACT Objective This work aimed to investigate the efficacy and safety of Roux‐en‐Y gastric bypass (RYGB) and sleeve gastrectomy (SG) in adults with acquired hypothalamic obesity (HO). Design Systematic review and meta‐analysis. Methods Publications reporting relevant outcomes in patients with HO before and after RYGB or SG were identified through a
Johannes Fessler, Pauline Faucher, Christine Poitou, Carsten Dirksen   +3 more
wiley   +1 more source

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, Volume 13, Issue 8, Page 1719-1725, August 2026.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source

Anterior pituitary hormone effects on hepatic functions in infants with congenital hypopituitarism

Annals of Hepatology, 2007
Background: Congenital hypopituitarism is an uncommon cause of neonatal cholestasis. Little is known about the effect of anterior pituitary hormone on hepatic functions.Methods: A retrospective review of the medical charts of eight infants with ...
Wikrom Karnsakul;, Pairunyar Sawathiparnich;, Saroj Nimkarn;, Supawadee Likitmaskul;, Jeerunda Santiprabhob;, Prapun Aanpreung   +5 more
doaj   +1 more source

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, Volume 104, Issue 5, Page 510-516, August 2026.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source

Traumatic brain injury and hypopituitarism

, 2019
Evidence demonstrates that the prevalence of hypopituitarism after traumatic brain injury (TBI) is higher than previously anticipated and leads to significant morbidity.
Sarah Leeder
core   +1 more source

Sector Classification of Unerupted Maxillary Canines: A Deep Learning‐Based Automated Framework Using Panoramic Radiographs

Orthodontics &Craniofacial Research, Volume 29, Issue 4, Page 631-639, August 2026.
ABSTRACT Objectives To develop a deep learning‐based framework to automate sector classification of unerupted maxillary canines (UMCs), assessing its accuracy and reliability compared to human ones. Material and Methods One thousand five hundred twenty‐eight UMCs from digital panoramic radiographs (PRs) were selected using data from the Dental ...
Marzio Galdi, Davide Cannatà, Flavia Celentano, Luigia Rizzo, Domenico Rossi, Tecla Bocchino, Genoveffa Tortora, Stefano Martina   +7 more
wiley   +1 more source