Results 101 to 110 of about 924,459 (214)

Clinical and Pathological Features of Flexural Deformities Associated with Myopathies in Foals

Veterinary Sciences
Flexural deformities (FDs) are a common condition in foals. Therapy is typically initiated without a precise diagnosis, and the etiopathogenesis often remains unknown.
Maria Pia Pasolini, Luigi Auletta, Davide De Biase, Emanuela Vaccaro, Chiara Del Prete, Chiara Montano, Mariaelena de Chiara, Evaristo Di Napoli, Orlando Paciello, Giuseppe Piegari   +9 more
doaj   +1 more source

Hyperhomocysteinemia and Vitamin B Deficiency as Potential Aggravating Factors in Huntington's Disease: A Prospective Monocentric Study

Movement Disorders, EarlyView.
Abstract Background Although not confirmed, some studies have suggested that elevated homocysteine levels are common in patients with Huntington's disease (HD). Its clinical relevance remains unclear. Objectives We aimed to assess vitamin B and homocysteine levels in HD patients and explore the relationships among hyperhomocysteinemia, vitamin B ...
Salomé Puisieux, Elise Pourié, Céline Bonnet, Lucie Hopes, Solène Frismand, Myriam Bronner, Virginie Roth, Marion Wandzel, Natacha Sloboda, Laetitia Lambert, Abderrahim Oussalah, Amélia Julien, Irina Rotaru, Rosa‐Maria Guéant‐Rodriguez, Jean Louis Guéant, Carine Bossenmeyer‐Pourié, Mathilde Renaud   +16 more
wiley   +1 more source

Construct Validity and Reliability of the OMNI Scale in Children and Adolescents With Neuromuscular Diseases

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Children and adolescents with neuromuscular diseases often demonstrate muscle weakness and mobility limitations, which may increase perceived exertion during functional tasks. The OMNI scale was developed to assess perceived exertion in pediatric populations; however, its measurement properties in neuromuscular conditions ...
Juliana Cardoso, Clara Corsete Tonoli, Beatriz Parra Buzzetti, Gabriela Barroso Davoli, Ana Claudia Mattiello‐Sverzut   +4 more
wiley   +1 more source

Curating the Fetal Genome: Experience of the ClinGen Prenatal Gene Curation Expert Panel (GCEP)

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Expert prenatal focused gene‐disease curation is necessary to accurately inform clinical care in the setting of rapidly expanding prenatal genomic sequencing. Methods An international Prenatal Gene Curation Expert Panel assembled and systematically reviewed genes asserted to be associated with prenatal hydrops, stillbirth, or severe ...
Stephanie N. Galloway, Jessica L. Giordano, Carrie Shawber, Natalie Chandler, Lauren Westerfield, Prenatal GCEP Panel members, Ronald J. Wapner, Wendy Chung, Ignatia B. Van den Veyver, Shagun Aggarwal, Caitlin Baptiste, Brenna Boyd, Amanda Buchanan, Alicia Byrne, Imen Chakchouk, David Chitayat, Lyn Chitty, Pinal Dalwadi, Avinash Dharmadhikari, Lilian Downie, Stephanie Dukhovny, Mythily Ganapathi, Kelly Gilmore, Elena Greenfeld, Lylach Haizler‐Cohen, Vaidehi Jobanputra, Gabrielle Litteken, Hannah Perrin, Julie Ratliff, Rebecca Reimers, Erin Riggs, Teresa Sparks, Samantha Stover, Amanda Thomas‐Wilson, Leandra Tolusso, Neeta Vora, Tsegaselassie Workalemahu, Roni Zemet‐Lazar   +37 more
wiley   +1 more source

Leiomodin-3-deficient mice display nemaline myopathy with fast-myofiber atrophy

Disease Models & Mechanisms, 2015
Nemaline myopathy (NM) is one of the most common forms of congenital myopathy, and affects either fast myofibers, slow myofibers, or both. However, an animal model for congenital myopathy with fast-myofiber-specific atrophy is not available. Furthermore,
Lei Tian, Sheng Ding, Yun You, Tong-ruei Li, Yan Liu, Xiaohui Wu, Ling Sun, Tian Xu   +7 more
doaj   +1 more source

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

Nature Communications, 2019
FXR1 is an alternatively spliced gene that encodes RNA binding proteins (FXR1P) involved in muscle development. In contrast to other tissues, cardiac and skeletal muscle express two FXR1P isoforms that incorporate an additional exon-15.
M. C. Estañ, E. Fernández-Núñez, M. Zaki, M. I. Esteban, S. Donkervoort, C. Hawkins, J. Caparrós‐Martín, D. Saade, Ying Hu, V. Bolduc, Katherine R. Chao, J. Nevado, A. Lamuedra, R. Largo, G. Herrero-Beaumont, J. Regadera, C. Hernández-Chico, E. Tizzano, V. Martínez-Glez, J. Carvajal, Ruiting Zong, D. Nelson, G. Otaify, S. Temtamy, M. Aglan, M. Issa, C. Bonnemann, P. Lapunzina, G. Yoon, V. Ruiz-Pérez   +29 more
semanticscholar   +1 more source

Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of integrated molecular autopsy (IMA) by combining deep post‐mortem phenotyping with exome (ES) and targeted genome sequencing (GS) for prenatally detected anomalies. Method This retrospective study evaluated 28 perinatal cases (22 fetuses, six neonates) with severe anomalies, normal first‐tier ...
Sihem Darouich, Samia Darouich, Ahmed Khemiri, Dorsaf Gtari, Raoudha Smiti, Ahmed Nhili, Houda Bellamine   +6 more
wiley   +1 more source

Congenital Myopathy in Lowe Syndrome

Pediatric Neurology Briefs, 1990
Congeni tal fiber type disproportion myopathy is described in two brothers with oculo-cerebro-renal syndrome of Lowe from the Department of Pediatrics, Tsuchiura Kyoudou Hospital; Ibaraki; Tsukuba University; Tokyo Medical and Dental University; and ...
J Gordon Millichap
doaj   +1 more source

Congenital Monomelic Hypertrophy With Progressive Myopathy

, 1991
• We describe a patient with congenital monomelic hypertrophy who later developed progressive footdrop due to a degenerative myopathy. The clinical, electrophysiologic, and pathologic features of the case are described and compared with those of a ...
W. W. Pendlebury, Hall, Colin D, A. Shukla, Pendlebury, William W, Bradley, Walter G, Shukla, Amitabh, C. D. Hall, W. G. Bradley   +7 more
core   +1 more source

Pregnancy in CTD‐interstitial lung disease: Current evidence, clinical challenges, and a proposed management algorithm

Rheumatology &Autoimmunity, EarlyView.
Summary of pregnancy management in CTD‐ILD across preconception, antenatal, and postpartum phases, emphasizing risk stratification and multidisciplinary care. 6MWT, 6‐min walk test; CTD‐ILD: connective tissue disease‐interstitial lung disease; DLCO, diffusion capacity of the lung for carbon monoxide; FVC, forced vital capacity; MDT, multidisciplinary ...
Khaled Aldhuaina, Ghaydaa Aldabie, Mohammad Abdulsalam, Ali Jawad   +3 more
wiley   +1 more source