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International Journal of Molecular... Mar 2023Collagen VI exerts several functions in the tissues in which it is expressed, including mechanical roles, cytoprotective functions with the inhibition of apoptosis and... (Review)
Review
Collagen VI exerts several functions in the tissues in which it is expressed, including mechanical roles, cytoprotective functions with the inhibition of apoptosis and oxidative damage, and the promotion of tumor growth and progression by the regulation of cell differentiation and autophagic mechanisms. Mutations in the genes encoding collagen VI main chains, and , are responsible for a spectrum of congenital muscular disorders, namely Ullrich congenital muscular dystrophy (UCMD), Bethlem myopathy (BM) and myosclerosis myopathy (MM), which show a variable combination of muscle wasting and weakness, joint contractures, distal laxity, and respiratory compromise. No effective therapeutic strategy is available so far for these diseases; moreover, the effects of collagen VI mutations on other tissues is poorly investigated. The aim of this review is to outline the role of collagen VI in the musculoskeletal system and to give an update about the tissue-specific functions revealed by studies on animal models and from patients' derived samples in order to fill the knowledge gap between scientists and the clinicians who daily manage patients affected by collagen VI-related myopathies.
Topics: Humans; Collagen Type VI; Muscular Dystrophies; Muscular Diseases; Contracture; Muscle, Skeletal; Mutation; Myopathies, Structural, Congenital
PubMed: 36982167
DOI: 10.3390/ijms24065095 -
Psychopharmacology Bulletin Oct 2020Adhesive capsulitis of the shoulder (AC) is characterized by fibrosis and contracture of the glenohumeral joint capsule, resulting in progressive stiffness, pain, and... (Review)
Review
BACKGROUND
Adhesive capsulitis of the shoulder (AC) is characterized by fibrosis and contracture of the glenohumeral joint capsule, resulting in progressive stiffness, pain, and restriction of motion of the shoulder. The prevalence of AC is estimated to be 2-5% of the general population. Patients with AC typically have an insidious onset of pain and can progress to severe limitation of the shoulder leading to significant disability and decreased quality of life.
OBJECTIVES
The objective of this manuscript is to provide a comprehensive review of AC with a focus on clinical presentation, natural history, pathophysiology, and various treatment modalities.
STUDY DESIGN
A review article.
SETTING
A review of literature.
METHODS
A search was made on the Pubmed database using the keywords of adhesive capsulitis, frozen shoulder, shoulder capsulitis, arthrofibrosis, shoulder pain, shoulder stiffness.
RESULTS
Our search identified numerous studies in order to provide a comprehensive review of the current understanding of the treatment and management of AC.
LIMITATIONS
There remains limited evidence in literature about the understanding of AC and optimal treatment.
CONCLUSION
AC is an important cause of chronic pain and disability. There is currently no consensus on treatment. Initial treatment modalities revolve around conservative measures as well as aggressive physical therapy. Further treatment options include intraarticular injections, hydro-dilation, nerve blocks, and for more refractory cases, surgical interventions such as arthroscopic capsulotomy.
Topics: Bursitis; Humans; Joint Capsule; Quality of Life; Shoulder Joint; Shoulder Pain
PubMed: 33633420
DOI: No ID Found -
Science (New York, N.Y.) Jan 2023Distal arthrogryposis (DA) is a collection of rare disorders that are characterized by congenital joint contractures. Most DA mutations are in muscle- and joint-related...
Distal arthrogryposis (DA) is a collection of rare disorders that are characterized by congenital joint contractures. Most DA mutations are in muscle- and joint-related genes, and the anatomical defects originate cell-autonomously within the musculoskeletal system. However, gain-of-function mutations in PIEZO2, a principal mechanosensor in somatosensation, cause DA subtype 5 (DA5) through unknown mechanisms. We show that expression of a gain-of-function PIEZO2 mutation in proprioceptive sensory neurons that mainly innervate muscle spindles and tendons is sufficient to induce DA5-like phenotypes in mice. Overactive PIEZO2 causes anatomical defects through increased activity within the peripheral nervous system during postnatal development. Furthermore, botulinum toxin (Botox) and a dietary fatty acid that modulates PIEZO2 activity reduce DA5-like deficits. This reveals a role for somatosensory neurons: Excessive mechanosensation within these neurons disrupts musculoskeletal development.
Topics: Animals; Mice; Arthrogryposis; Contracture; Mechanotransduction, Cellular; Mutation; Sensory Receptor Cells; Ion Channels
PubMed: 36634173
DOI: 10.1126/science.add3598 -
International Journal of Environmental... Sep 2022Stretching is considered a clinically effective way to prevent muscle contracture development in children with spastic cerebral palsy (CP). Therefore, in this study, we... (Randomized Controlled Trial)
Randomized Controlled Trial
Acute Effects of Static and Proprioceptive Neuromuscular Facilitation Stretching of the Plantar Flexors on Ankle Range of Motion and Muscle-Tendon Behavior in Children with Spastic Cerebral Palsy-A Randomized Clinical Trial.
Stretching is considered a clinically effective way to prevent muscle contracture development in children with spastic cerebral palsy (CP). Therefore, in this study, we assessed the effects of a single session of proprioceptive neuromuscular facilitation (PNF) or static stretching (SS) on ankle joint range of motion (RoM) and gastrocnemius muscle-tendon behavior in children with CP. During the SS ( = 8), the ankle joint was held in maximum dorsiflexion (30 s). During the PNF stretching ( = 10), an isometric contraction (3-5 s) was performed, followed by stretching (~25 s). Ten stretches were applied in total. We collected data via dynamometry, 3D motion capture, 2D ultrasound, and electromyography, before and after the stretching sessions. A mixed ANOVA was used for the statistical analysis. Both ankle RoM and maximum dorsiflexion increased over time (F(1,16) = 7.261, < 0.05, η² = 0.312; and F(1,16) = 4.900, < 0.05, η² = 0.234, respectively), without any difference between groups. An interaction effect (F(1,12) = 4.768, = 0.05, η² = 0.284) was observed for muscle-tendon unit elongation (PNF: -8.8%; SS: +14.6%). These findings suggest a positive acute effect of stretching on ankle function. However, SS acutely increased muscle-tendon unit elongation, while this decreased after PNF stretching, indicating different effects on the spastic muscles. Whether PNF stretching has the potential to cause positive alterations in individuals with CP should be elucidated in future studies.
Topics: Ankle; Ankle Joint; Cerebral Palsy; Child; Humans; Muscle Stretching Exercises; Muscle, Skeletal; Range of Motion, Articular; Tendons
PubMed: 36141875
DOI: 10.3390/ijerph191811599