Results 71 to 80 of about 38,097 (208)

Beyond protective factors and normal IQ in preterm children: More executive disorders than expected

Journal of Neuropsychology, EarlyView.
Abstract Executive functions (EF) are vulnerable in preterm children. Owing to methodological issues, inconsistent findings have left some questions unresolved. This study implemented a theory‐guided, integrative EF assessment in preterm children. We also examined the impact of perinatal and sociodemographic features on EF disorder.
Olivier Cadeau, Jean‐Baptiste Muller, Amanda Guerra, Cécile Boscher, Anne Frondas, Jean‐Christophe Rozé, Cyril Flamant, Clair‐Yves Boquien, Laure Simon, Arnaud Roy   +9 more
wiley   +1 more source

A Practical Guide to Chromosome Microarray Interpretation for Paediatricians

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson, Margit Shah, Sarah Josephi‐Taylor, Brieana Dance, Benjamin Nash, Luke St Heaps, Dale Wright, Janette Hayward, Christopher Elliot, Joshua Steadson, Alan Ma   +10 more
wiley   +1 more source

Robotic resection for splenic artery aneurysm associated with neurofibromatosis type 1: a case report

Journal of Medical Case Reports
Background Neurofibromatosis type 1 is an autosomal-dominant disease characterized by café-au-lait spots and neurofibromas, as well as various other symptoms in the bones, eyes, and nervous system.
Akihiko Ueda, Kenta Saito, Hiromichi Murase, Tomokatsu Kato, Hiroyuki Imafuji, Mamoru Morimoto, Ryo Ogawa, Hiroki Takahashi, Yoichi Matsuo, Shuji Takiguchi   +9 more
doaj   +1 more source

Detection of severe hypertension in a patient with neurofibromatosis type 1 during anesthesia induction: a case report

Journal of Medical Case Reports, 2019
Background Neurofibromatosis type 1 has a higher prevalence of pheochromocytoma and paraganglioma than the general population: 1.0–5.7% versus 0.2–0.6%.
Juan Wang, Guohua Wei, Zhongyun Wang, He Huang   +3 more
doaj   +1 more source

Building a precision therapeutics program at a tertiary care children's hospital

Pediatric Investigation, EarlyView.
Luke Hamilton, Heidi Trinkman, Diana Carrasco, Kaitlin Smith, Kelly Vallance, Alejandra Dominguez, Danielle Miller, Megan Gibbs, Anish Ray   +8 more
wiley   +1 more source

The Efficacy of Pharmacotherapy Intervention on Anthropometric Outcomes in Survivors of Childhood Brain Tumors: An Updated Systematic Review and Meta‐Analysis

Obesity Reviews, EarlyView.
ABSTRACT Introduction Many survivors of childhood brain tumors face long‐term adverse health outcomes like obesity. Uncertainties surround the effect of interventions to manage obesity‐related outcomes in survivors of childhood brain tumors. The goal of this updated systematic review and meta‐analysis was to provide the best estimate of the treatment ...
David Hart, Lawrence Mbuagbaw, Joseph Beyene, Marwa Akola, Sarah Burrow, M. Constantine Samaan, Lehana Thabane, Adam Fleming, Donna L. Johnston, Shahrad R. Rassekh, Laura Banfield, Russell J. de Souza   +11 more
wiley   +1 more source

Periodontal Disease and Salivary Gland Dysfunction in Neurofibromatosis Type 1: A Case–Control Study

Oral Diseases, EarlyView.
ABSTRACT Objectives Neurofibromatosis type 1 (NF1) presents with diverse systemic and oral manifestations. The aim of this study was to investigate the periodontal status and salivary alterations in NF1 individuals. Methods A total of 38 individuals with NF1 diagnostic criteria were compared with a control group paired by age and sex.
Eloá Borges Luna, Gustavo de Souza Vieira, Flávia Lima Kleinsorgen Motta, Ana Beatriz Oliveira Gambôa, Analúcia Rampazzo Xavier, Rafaela Elvira Rozza‐de‐Menezes, Karin Soares Cunha   +6 more
wiley   +1 more source

Genomic profiling of Mexican patients with B‐cell precursor acute lymphoblastic leukemia reveals clinically significant somatic and potential germline variants

The Journal of Pathology: Clinical Research, Volume 12, Issue 5, September 2026.
Abstract B‐cell precursor acute lymphoblastic leukemia (preB‐ALL) is characterized by pathogenic variants currently used in precision oncology. However, the mutational landscape of Mexican children with preB‐ALL has not yet been thoroughly explored and defined in terms of the clinical significance.
Daniel Martínez Anaya, María del Rocío Juárez‐Velázquez, Ulises Juárez Figueroa, Michael Dean, Consuelo Salas Labadía, Marian Valladares Coyotecatl, Adriana Reyes León, Norma López Santiago, Luis Juárez Villegas, Marta Zapata Tarrés, Patricia Pérez‐Vera   +10 more
wiley   +1 more source

A qualitative study of the impact of plexiform neurofibromas on need fulfilment in adults with neurofibromatosis type 1

SAGE Open Medicine, 2019
Objective: To explore the impact of plexiform neurofibromas on the lives of adults with neurofibromatosis type 1. Background: Neurofibromatosis type 1 is a complex neurogenetic syndrome that affects many aspects of health and functioning.
Alice Heaney, Jeanette Wilburn, Shannon Langmead, Jaishri Blakeley, Susan Huson, Carly Jim, Stephen P McKenna   +6 more
doaj   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2151-2156, September 2026.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source