Results 51 to 60 of about 879,135 (289)
BMC Pediatrics, 2022 Background Combined oxidative phosphorylation deficiency 26 (COXPD26) is an autosomal recessive disorder characterized by early onset, developmental delay, gastrointestinal dysfunction, shortness of breath, exercise intolerance, hypotonia and muscle ...
Shuiyan Wu +8 more
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Stem Cell Research, 2023 Centronuclear myopathies (CNMs) are a group of inherited rare muscle disorders characterised by the abnormal position of the nucleus in the center of the muscle fiber.
Liani G. Devito +4 more
doaj +1 more source
Neonatal peripheral hypotonia: clinical and electromyographic characteristics
, 1993 Hypotonia is a common occurrence in pediatrics, especially in the neonatal period. The hypotonic neonate represents a diagnostic challenge for the general pediatrician because hypotonia may be caused by a lesion at any level in the neuraxis: (1) central ...
Parano E, Lovelace RE
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Anorectal Dysfunction in Systemic Sclerosis: Clinical Phenotypes and Functional Patterns
Arthritis Care &Research, EarlyView.Objective The aim of this study was to characterize specific physiologic defects in anorectal dysfunction in systemic sclerosis (SSc) using anorectal manometry (ARM), evaluate associations with gastrointestinal (GI) and extraintestinal clinical phenotypes, and explore potential serologic markers for risk stratification.
Timothy Kaniecki +6 more
wiley +1 more source
Mitochondrial Myopathy and Cardiomyopathy
Pediatric Neurology Briefs, 1989 Two siblings with infantile lactic acidosis and mitochondrial myopathy are reported from the Department of Pediatrics, Goteborg University; Ostra Hospital; Goteborg, Sweden.
J Gordon Millichap
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Accumulation of muscle ankyrin repeat protein transcript reveals local activation of primary myotube endcompartments during muscle morphogenesis [PDF]
, 1997 The characteristic shapes and positions of each individual body muscle are established during the process of muscle morphogenesis in response to patterning information from the surrounding mesenchyme. Throughout muscle morphogenesis, primary myotubes are
Arber, S. +5 more
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, 2023 Phelan-McDermid syndrome (PMS) is a syndromic form of Autism Spectrum Disorders (ASD) classified as a rare genetic neurodevelopmental disorder featuring global developmental delay, absent or delayed speech, ASD-like behaviour and neonatal skeletal muscle
Sarah Jesse (120792) +6 more
core +1 more source
Advanced Functional Materials, EarlyView.This study presents a magneto‐mechanical strategy that incorporates FP@MSCs into an aligned PCL/GelMA nerve guidance conduit. Magnetic stimulation increases membrane tension in FP@MSCs, triggering cytoskeletal remodeling, Schwann cell‐like differentiation, and TIMP1 secretion. TIMP1 activates ITGB1/CD63–FAK signaling in NE‐4C cells, increasing membrane
Xinyu Zhu +14 more
wiley +1 more source
Development of an Evidence-Based Clinical Algorithm for Practice in Hypotonia Assessment: A Proposal
JMIR Research Protocols, 2014 BackgroundAssessing muscle tone in children is essential during the neurological assessment and is often essential in ensuring a more accurate diagnosis for appropriate management.
Naidoo, Pragashnie
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Skeletal muscle laminin and MDC1A: pathogenesis and treatment strategies. [Elektronisk resurs]
, 2011 Laminin-211 is a cell-adhesion molecule that is strongly expressed in the basement membrane of skeletal muscle. By binding to the cell surface receptors dystroglycan and integrin α7β1, laminin-211 is believed to protect the muscle fiber from damage under
Durbeej-Hjalt, Madeleine, +2 more
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