Results 31 to 40 of about 75,837 (152)

Relationship between Plantar longitudinal arches and Some Selected Motor Parameters in Children aging 11 to 14 years

مجله پژوهش در علوم توانبخشی, 2011
Background: This study investigated the relationship between plantar longitudinal arches and some selected motor parameters in children aging 11 to 14 years.
Behrouz Abdoli, Mostafa Teymoori, Sayed Hojjat Zamani Sani, Meysam Zeraatkar, Fariborz Hovanloo   +4 more
doaj   +1 more source

PES CAVUS AND LYMPHOEDEMA

, 1970
1. Two patients with bilateral pes cavus and lymphoedema are reported. Lymphography confirmed the existence of lymphatic insufficiency in both cases. In both there was evidence of hereditary factors in the etiology. 2.
J. B. Kinmonth, B. T. Jackson
core   +1 more source

Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß, Vykuntaraju K. Gowda, Daniel Natera‐de Benito, Pinki Munot, Maria Vanegas, Alejandra Darling, Constanze Reutlinger, Laura Carrera‐Garcia, Gilbert Wunderlich, Heike Kölbel, Burkhard Stüve, David Muhmann, Lucía Monfort Belenguer, Diana‐Gabriela Barca, Viveka Santhosh Reddy C, Varunvenkat M. Srinivasan, Cristina Molina Anguita, Heinz Jungbluth, Hormos Salimi Dafsari, Thomas Rossor, Johann Böhm, Ulrike Schara‐Schmidt, Andreas Roos   +22 more
wiley   +1 more source

Paediatric flat foot and foot dimension in Central Anatolia

BMC Pediatrics, 2021
Background Information on the foot structures of Central Anatolian children is limited. Foot structures of children aged 6–10 years were shown to be different according to sex and increasing age.
Serap Alsancak, Senem Guner, Enver Güven, Ali Koray Özgün, Yunis Akkaş, Neslihan Alkıs   +5 more
doaj   +1 more source

Pes Planus Foot among the First and Second Year Medical Students of a Medical College: A Descriptive Cross-sectional Study

Journal of Nepal Medical Association, 2021
Introduction: Foot is a complex segmented structure formed by the articulation of 26 different bones which are held together by multiple ligaments, extrinsic tendons and the intrinsic muscles of the feet. The assessment of median longitudinal arch serves
Diwakar Kumar Shah, Sanzida Khatun
doaj   +1 more source

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

Pressure characteristics in painful pes cavus feet resulting from Charcot–Marie–Tooth disease

, 2008
Charcot–Marie–Tooth (CMT) disease often presents with peripheral muscle imbalance associated with a painful cavus (medial higharched) foot deformity which becomes increasingly severe and rigid as the disease progresses.
Joshua Burns, Ouvrier, Robert A., Robert A. Ouvrier, Crosbie, Jack (R17347), Jack Crosbie, Burns, Joshua (R10995)   +5 more
core   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

A De Novo ATP1A3 p.Arg995His Variant in a Patient With an Adult‐Onset Primary Lateral Sclerosis‐Like Syndrome

Clinical Genetics, EarlyView.
A 43‐year‐old woman developed a progressive adult‐onset upper motor neuron syndrome fulfilling the clinical criteria for primary lateral sclerosis (PLS), with mild cerebellar involvement. Genetic testing identified a de novo ATP1A3 p.Arg995His variant affecting a highly conserved residue within the transmembrane M8 domain.
Pablo Hernandez‐Vitorique, Marta García de Burgos, Ana Campos Villegas, María José Gómez Heredia, Pilar Carbonell Corvillo   +4 more
wiley   +1 more source