Results 71 to 80 of about 1,154 (251)

Assessing a Model for a Complex Systemic Disorder—The Value of Male Mice With a Supernumerary X Chromosome for Klinefelter Syndrome Research

Andrology, EarlyView.
ABSTRACT Introduction Direct experimental investigation of Klinefelter syndrome (KS) in patients is limited because the syndrome manifests heterogeneously and affects multiple organ systems. Studying KS therefore requires a model that captures this complexity as accurately as possible while still permitting controlled experimental manipulation ...
Fariba Saadati, Joachim Wistuba
wiley   +1 more source

The Neurobiology of Childhood Spinal Muscular Atrophy

Neurobiology of Disease, 1996
Thomas O. Crawford, Carlos A. Pardo
openaire   +3 more sources

Genetics of childhood spinal muscular atrophy. [PDF]

Journal of Medical Genetics, 1971
E J, Winsor, E G, Murphy, M W, Thompson, T E, Reed   +3 more
openaire   +2 more sources

Risk Factors for Complications Following Paediatric Neuromuscular and Syndromic Scoliosis Correction Surgery: A Systematic Review

ANZ Journal of Surgery, EarlyView.
ABSTRACT Background Paediatric neuromuscular and syndromic scoliosis patients have multiple medical comorbidities that increase the risk of postoperative complications. There is a lack of consistent literature assessing the specific risk factors for complications following scoliosis correction surgery in this high‐risk cohort.
Mai Pham, Mia A. Percival, Moya Vandeleur, Giuliana Antolovich, Kris Lundine   +4 more
wiley   +1 more source

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

Acta Ophthalmologica, EarlyView.
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

Human brain matters: Navigating the neuropathology of COVID‐19

Brain Pathology, EarlyView.
Severe COVID‐19 is associated with vascular dysregulation and chronic neuroinflammation, leading to axonal injury and neurodegeneration. In long COVID or PASC, persistent alterations in neuroimaging and biofluid biomarkers reflect ongoing neuronal damage and neuroinflammation, contributing to long‐term neurological symptoms including fatigue, cognitive
Juliana M. Nieuwland, Angelica Scaramuzza, Marianna Bugiani, Wilma D. J. van de Berg, Jinte Middeldorp   +4 more
wiley   +1 more source

Clinical Characterization of Patients With 5q Spinal Muscular Atrophy Types 2 and 3 in Brazil: A Cross‐Sectional Observational Study

Clinical Genetics, EarlyView.
This study describes the clinical heterogeneity of Brazilian patients with 5q spinal muscular atrophy types 2 and 3, highlighting prolonged diagnostic delays and the impact of disease duration on motor function. Early genetic diagnosis and access to multidisciplinary care are crucial to preserve functional outcomes.
Elice Carneiro Batista, Edmar Zanoteli, Henrique Andrade R. Fonseca, Graziela Jorge Polido, Jonas Alex Morales Saute, Adriana Banzzatto Ortega, Marcondes Cavalcante França Junior, Acary Souza Bulle Oliveira, Paulo Victor Sgobbi de Souza, Juliana Gurgel Giannetti, André Luiz Santos Pessoa, Alexandra Prufer de Queiroz Campos Araújo, Mário Fritsch Toros Neves, Raquel Tavares Boy da Silva, Frederico Monfardini, Gustavo Prado dos Santos, Bruna dos Santos Sampaio, Diogo Fagundes Moia, Fernando Galan Júnior, Luciana Pereira Almeida de Piano, Camila Santos Nascimento de Albuquerque, Flávia Miranda Duarte, Viviane Aparecida Rodrigues Sant’Anna, Mariane Pereira, Jomenica de Bortoli Livramento, Ronaldo Vicente Pereira Soares, Denison Alves Pedrosa, Vanessa Teich, Luiz Vicente Rizzo, Otávio Berwanger, João Brainer Clares de Andrade, Gisele Sampaio Silva   +31 more
wiley   +1 more source

Neuromuscular disorders of infancy, childhood, and adolescence : a clinician's approach /

Neuromuscular disorders are diagnosed across the lifespan and create many challenges especially with infants, children and adolescents. This new edition of the definitive reference, edited by the established world renowned authorities on the science ...
Ryan, Monique M.,editor., De Vivo, Darryl C.,editor., Jones, H. Roydeneditor., Darras, Basil T.,editor.   +3 more
core  

Autism spectrum disorder in children with spinal muscular atrophy type 1: Case series

Developmental Medicine &Child Neurology, EarlyView.
Autism spectrum disorder (ASD) was identified in 37.5% of children with SMA (n = 13). While IQ did not differ significantly between groups, adaptive functioning was reduced in those with co‐occurring ASD. Results support routine early neurodevelopmental screening in children with spinal muscular atrophy.
Lorena V. Rezende, Adriana B. Ortega, Daniel A. Do Valle, Tiago S. Bara, Mara L. Cordeiro   +4 more
wiley   +1 more source

Spinal muscular atrophy of childhood: genetics [PDF]

Developmental Medicine & Child Neurology, 1997
openaire   +3 more sources