keyword
https://read.qxmd.com/read/38521678/the-complementary-use-of-muscle-ultrasound-and-mri-in-fshd-early-versus-later-disease-stage-follow-up
#21
JOURNAL ARTICLE
Sanne C C Vincenten, Nicol C Voermans, Donnie Cameron, Baziel G M van Engelen, Nens van Alfen, Karlien Mul
OBJECTIVES: Muscle MRI and ultrasound provide complementary techniques for characterizing muscle changes and tracking disease progression in facioscapulohumeral muscular dystrophy (FSHD). In this cohort study, we provide longitudinal data that compares both imaging modalities head-to-head. METHODS: FSHD patients were assessed at baseline and after five years. Standardized muscle MRI and ultrasound images of five leg muscles were assessed bilaterally. Fat replacement was quantified using MRI fat-fraction (FF) and ultrasound Heckmatt and echogenicity z-scores (EZ-score)...
March 7, 2024: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://read.qxmd.com/read/38521120/comprehensive-review-of-statin-intolerance-and-the-practical-application-of-bempedoic-acid
#22
REVIEW
Siva Naga S Yarrarapu, Amandeep Goyal, Vikramaditya Samala Venkata, Viraj Panchal, Barath Prashanth Sivasubramanian, Doantrang T Du, Roopesh Sai Jakulla, Hema Pamulapati, Mazhar A Afaq, Steven Owens, Tarun Dalia
Statin-intolerance (SI) has prevalence between 8.0 % and 10 %, and muscular complaints are the most common reason for discontinuation. Bempedoic acid (BA), an ATP citrate lyase inhibitor, decreases hepatic generation of cholesterol, upregulates low-density lipoprotein (LDL) receptor expression in the liver, and eventually clears circulating LDL-cholesterol from the blood. Multiple randomized clinical trials studying BA demonstrate a reduction in LDL levels by 17-28 % in SI. The CLEAR OUTCOME trial established significant cardiovascular benefits with BA...
March 21, 2024: Journal of Cardiology
https://read.qxmd.com/read/38520993/rare-homozygous-disease-associated-sequence-variants-in-children-with-spinal-muscular-atrophy-a-phenotypic-description-and-review-of-the-literature
#23
Limin Li, Manoj P Menezes, Melanie Smith, Robin Forbes, Stephan Züchner, Amber Burgess, Ian R Woodcock, Martin B Delatycki, Eppie M Yiu
5q-associated spinal muscular atrophy (SMA) is the most common autosomal recessive neurological disease. Depletion in functional SMN protein leads to dysfunction and irreversible degeneration of the motor neurons. Over 95 % of individuals with SMA have homozygous exon 7 deletions in the SMN1 gene. Most of the remaining 4-5 % are compound heterozygous for deletion and a disease-associated sequence variant in the non-deleted allele. Individuals with SMA due to bi-allelic SMN1 sequence variants have rarely been reported...
March 12, 2024: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/38520738/real-world-evidence-risdiplam-in-a-patient-with-spinal-muscular-atrophy-type-i-with-a-novel-splicing-mutation-and-one-smn2-copy
#24
JOURNAL ARTICLE
Kai Ma, Kaihui Zhang, Defang Chen, Chuan Wang, Mohnad Abdalla, Haozheng Zhang, Rujin Tian, Yang Liu, Li Song, Xinyi Zhang, Fangfang Liu, Guohua Liu, Dong Wang
Spinal muscular atrophy (SMA), which results from the deletion or/and mutation in the SMN1 gene, is an autosomal recessive neuromuscular disorder that leads to weakness and muscle atrophy. SMN2 is a paralogous gene of SMN1. SMN2 copy number affects the severity of SMA, but its role in patients treated with disease modifying therapies is unclear. The most appropriate individualized treatment for SMA has not yet been determined. Here, we reported a case of SMA type I with normal breathing and swallowing function...
March 23, 2024: Human Molecular Genetics
https://read.qxmd.com/read/38520541/imaging-spectrum-of-atraumatic-muscle-disorders-a-radiologist-s-guide
#25
REVIEW
Dâmaris Versiani C Gonçalves, Lucas N M da Silva, Júlio Brandão Guimarães, Isabela A N da Cruz, Alípio Gomes Ormond Filho
Atraumatic muscle disorders comprise a very wide range of skeletal muscle diseases, including metabolic, inflammatory, autoimmune, infectious, ischemic, and neoplastic involvement of the muscles. Therefore, one must take clinical and laboratory data into consideration to elucidate the differential diagnoses, as well as the distribution of the muscle compromise along the body-whether isolated or distributed along the body in a symmetric or asymmetrical fashion. Assessment of muscular disorders often requires imaging investigation before image-guided biopsy or more invasive procedures; therefore, radiologists should understand the advantages and limitations of imaging methods for proper lesion evaluation and be aware of the imaging features of such disorders, thus contributing to proper decision-making and good patient outcomes...
March 23, 2024: Skeletal Radiology
https://read.qxmd.com/read/38519564/high-intensity-functional-training-for-people-with-spinal-cord-injury-their-care-partners
#26
JOURNAL ARTICLE
Reed Handlery, Kaci Handlery, Dana Kahl, Lyndsie Koon, Elizabeth W Regan
STUDY DESIGN: Non-randomized clinical trial. OBJECTIVES: Examine the feasibility, physical and psychosocial effects of a high intensity functional training (HIFT) exercise program for people with spinal cord injury (pSCI) and their care partners (CPs). SETTING: Community fitness center in a Medically Underserved Area (Fort Smith, USA.) METHODS: A single-group design with three assessment points (before the program, at midpoint (13 weeks), and post-program (25 weeks) was used to examine the effects of up to 49 HIFT sessions over 25-weeks...
March 22, 2024: Spinal Cord
https://read.qxmd.com/read/38519306/-eosinophilic-fasciitis-from-pathophysiology-to-therapeutics
#27
REVIEW
S Knapp, L Bolko, A Servettaz, K Didier
Eosinophilic fasciitis (EF) is a rare connective tissue disorder characterized by painful edema and induration of the limbs and trunk, likely associated with hypereosinophilia and hypergammaglobulinemia. EF causes arthralgia and range of motion limitation, leading to significant functional impairment and poor quality of life. Since its description by Shulman in 1974, over 300 cases have been reported. We present here a review of the latest diagnostic, pathophysiological and therapeutic developments in this disease...
March 21, 2024: La Revue de Médecine Interne
https://read.qxmd.com/read/38517831/influence-of-brick-laying-height-on-biomechanical-load-in-masons-cross-sectional-field-study-with-technical-measurements
#28
JOURNAL ARTICLE
Mikkel Brandt, Rúni Bláfoss, Markus Due Jakobsen, Afshin Samani, Jeppe Z N Ajslev, Pascal Madeleine, Lars L Andersen
BACKGROUND: Work-related musculoskeletal disorders (WMSDs) located in the low back and neck/shoulder regions are major concerns for both workers, workplaces, and society. Masons are prone to WMSD, because their work is characterized by repetitive work and high physical workload. However, the knowledge on the physical workload during bricklaying is primarily based on subjective measurements. OBJECTIVE: This cross-sectional field study with technical measurements aimed to quantify physical workload in terms of muscular activity and degree of forward bending during bricklaying at different working heights among masons, i...
March 19, 2024: Work: a Journal of Prevention, Assessment, and Rehabilitation
https://read.qxmd.com/read/38517830/lower-body-muscular-power-predicts-performance-on-urban-combat-simulation
#29
JOURNAL ARTICLE
Matias Sankari, Jani P Vaara, Kai Pihlainen, Tommi Ojanen, Heikki Kyröläinen
BACKGROUND: Military operations in urban environments requires faster movements and therefore may place greater demands on soldier strength and anaerobic ability. OBJECTIVE: The aim was to study how physical fitness and body composition are associated with occupational test for urban combat soldiers before and after a 5-day military field exercise (MFE). METHODS: Twenty-six conscripts (age = 20±1 yrs.) volunteered, of which thirteen completed the study...
March 23, 2024: Work: a Journal of Prevention, Assessment, and Rehabilitation
https://read.qxmd.com/read/38517801/natural-history-of-mandibular-function-in-spinal-muscular-atrophy-types-2-and-3
#30
JOURNAL ARTICLE
H Willemijn van Bruggen, Camiel A Wijngaarde, Faylynn Asselman, Marloes Stam, Nico H J Creugers, Renske I Wadman, W Ludo van der Pol, Stanimira I Kalaykova
BACKGROUND: Hereditary proximal spinal muscular atrophy (SMA) is characterized by abnormal alpha motor neuron function in brainstem and spinal cord. Bulbar dysfunction, including limited mouth opening, is present in the majority of patients with SMA but it is unknown if and how these problems change during disease course. OBJECTIVE: In this prospective, observational, longitudinal natural history study we aimed to study bulbar dysfunction in patients with SMA types 2 and 3...
March 20, 2024: Journal of Neuromuscular Diseases
https://read.qxmd.com/read/38517799/treatment-approaches-for-altered-facial-expression-a-systematic-review-in-facioscapulohumeral-muscular-dystrophy-and-other-neurological-diseases
#31
JOURNAL ARTICLE
Nathaniël B Rasing, Willianne A van de Geest-Buit, On Ying A Chan, Karlien Mul, Anke Lanser, Baziel G M van Engelen, Corrie E Erasmus, Agneta H Fischer, Koen J A O Ingels, Bart Post, Ietske Siemann, Jan T Groothuis, Nicol C Voermans
BACKGROUND: Facial weakness is a key feature of facioscapulohumeral muscular dystrophy (FSHD) and may lead to altered facial expression and subsequent psychosocial impairment. There is no cure and supportive treatments focus on optimizing physical fitness and compensation of functional disabilities. OBJECTIVE: We hypothesize that symptomatic treatment options and psychosocial interventions for other neurological diseases with altered facial expression could be applicable to FSHD...
March 21, 2024: Journal of Neuromuscular Diseases
https://read.qxmd.com/read/38517774/artificial-intelligence-in-scientific-writing-and-research-publication-a-paradigm-shift-in-language-inclusivity
#32
JOURNAL ARTICLE
Muhammad Osama
No abstract text is available yet for this article.
2024: Journal of Back and Musculoskeletal Rehabilitation
https://read.qxmd.com/read/38517773/comparison-of-muscle-tightness-between-knees-in-individuals-with-unilateral-osteoarthritis-and-its-relationship-with-pain-and-function
#33
JOURNAL ARTICLE
Bayram Sonmez Unuvar, Osman Tufekci, Hasan Gercek, Mustafa Savas Torlak, Onur Erbas
BACKGROUND: Unilateral osteoarthritis (OA) affects single knees and presents a unique scenario where individuals experience varying degrees of symptoms between their affected and unaffected knees. OBJECTIVE: This study aims to investigate differences in muscle tightness between symptomatic and asymptomatic knees in individuals with unilateral knee OA while exploring the interplay among pain, functionality, and muscle tightness. METHODS: In this cross-sectional study, thirty knee OA patients underwent assessments for hamstring (Active Knee Extension, Straight Leg Raise), iliotibial band (Ober Test), and quadriceps tightness (Modified Thomas Test)...
February 29, 2024: Journal of Back and Musculoskeletal Rehabilitation
https://read.qxmd.com/read/38517772/the-immediate-effect-of-thoracolumbar-fascia-taping-on-biomechanical-properties-low-back-pain-and-balance-in-individuals-with-transfemoral-amputation
#34
JOURNAL ARTICLE
Zehra Çalışkan, Nuray Alaca, Nilüfer Kablan
BACKGROUND: In individuals with transfemoral amputation (TFA), adaptations caused by prosthesis use may adversely affect contractile/noncontractile structures. OBJECTIVE: To investigate the immediate effect of the thoracolumbar fascia (TLF) kinesiology taping (KT) on the tone and stiffness of the fascia, low back pain (LBP) and standing balance in individuals with TFA. METHODS: Syrian male participants with TFA were enrolled in the prospective, single-blind, randomised controlled trial...
February 1, 2024: Journal of Back and Musculoskeletal Rehabilitation
https://read.qxmd.com/read/38517771/treatment-outcomes-in-post-stroke-shoulder-hand-syndrome-the-role-of-combined-acupuncture-traditional-chinese-herb-hot-compress-and-rehabilitation-training
#35
JOURNAL ARTICLE
Lin Li, Ju Li, Mu He
BACKGROUND: Acupuncture, traditional Chinese herb hot compress and rehabilitation training is useful in post-stroke shoulder-hand syndrome (SHS), but it is less commonly used in combination. OBJECTIVE: To analyse the therapeutic efficacy of a combination of acupuncture, traditional Chinese herb hot compress and rehabilitation training in SHS patients. METHOD: Patients diagnosed with post-stroke SHS and treated from January 2022 to March 2023 at Beijing Friendship Hospital and Beijing Pinggu Hospital were selected and randomly divided into three groups (A, B and C)...
February 5, 2024: Journal of Back and Musculoskeletal Rehabilitation
https://read.qxmd.com/read/38517770/efficacy-of-ultrasound-guided-galvanic-electrolysis-technique-and-physical-therapy-in-patients-with-achilles-tendinopathy-a-pilot-randomised-controlled-trial
#36
JOURNAL ARTICLE
Marco Di Gesù, Angelo Alito, Daniele Borzelli, Domenico Romeo, Fabio Bonomolo, Dario Calafiore, Alessandro de Sire
BACKGROUND: Ultrasound-guided galvanic electrolysis technique (USGET) is an innovative mini-invasive intervention with the potential to optimise outcomes in the treatment of Achille's tendinopathy (AT). OBJECTIVE: The aim of this pilot study is to evaluate the efficacy of adding USGET to conventional eccentric exercise treatment in patients with chronic AT. METHODS: Inclusion criteria were patients with unilateral non-insertional AT, pain lasting > 3 months, aged 25-60 years...
February 28, 2024: Journal of Back and Musculoskeletal Rehabilitation
https://read.qxmd.com/read/38517769/effects-of-short-foot-training-on-foot-posture-in-patients-with-flatfeet-a-systematic-review-and-meta-analysis
#37
REVIEW
Jinling Cheng, Dongmiao Han, Jiayang Qu, Zicai Liu, Ying Huang
BACKGROUND: With lifestyle changes, the prevalence of flatfoot is increasing year by year, with a prevalence of 29%. Flatfoot will lead to an inevitable injury and reduce the quality of life. Short foot exercises can enhance the strength of the intrinsic muscles of the foot and improve the symptoms of flatfoot. However, there is controversy regarding its specific efficacy. OBJECTIVE: This meta-analysis quantitatively evaluates the effect of short foot training on patients with flatfeet and provides evidence to inform the clinical approach to short foot training in patients with flat feet...
February 27, 2024: Journal of Back and Musculoskeletal Rehabilitation
https://read.qxmd.com/read/38517768/the-burden-of%C3%A2-low-back-pain-in-adolescents-and-young-adults
#38
JOURNAL ARTICLE
Zhiming Wu, Guoxin Huang, Jinwei Ai, Ying Liu, Bin Pei
BACKGROUND: Low back pain is highly prevalent and the main cause of years lived with disability, but data on the burden and trends of low back pain (LBP) in adolescents and young adults (AYAs) are sparse. OBJECTIVE: To assess trends in the burden of LBP among AYAs aged 15-39 years at the global, regional and national levels from 1990 to 2019. METHODS: Data from the Global Burden of Disease (GBD) 2019 were used to analyze incidence, prevalence and Disability-adjusted life year (DALY) due to LBP at global, regional, and national levels...
January 25, 2024: Journal of Back and Musculoskeletal Rehabilitation
https://read.qxmd.com/read/38517767/a-novel-surgical-method-for-treating-fractures-of-the-middle-third-of-the-clavicle
#39
JOURNAL ARTICLE
Yayun Liu, Xiaozheng Tang, Yuanjun Ding, Jingtang Li
BACKGROUND: The clavicle is recognized as the bone most vulnerable to fractures. Moreover, approximately 80% of fractures occur in the middle third of the clavicle. Conservative treatment is associated with a higher rate of nonunion, while surgical treatment of fracture via internal fixation may have a variety of postoperative complications. Therefore, to improve patient satisfaction and reduce the complications related to internal fixation techniques, we modified the surgical approach to external fixation...
December 5, 2023: Journal of Back and Musculoskeletal Rehabilitation
https://read.qxmd.com/read/38517116/quantitative-ultrasonography-reveals-skeletal-muscle-abnormalities-in-carriers-of-dmd-pathogenic-variants
#40
JOURNAL ARTICLE
Bruna Melo Coelho Loureiro, Mariana Rabelo de Brito, Cristina Iwabe, Sergio San Juan Dertkigil, Marcondes C França
INTRODUCTION/AIMS: Carriers of DMD pathogenic variants may become symptomatic and develop muscle-related manifestations. Despite that, few studies have attempted to characterize changes in the muscles of these carriers using imaging tools, particularly muscle ultrasound (MUS). The aim of this study was to compare lower limb MUS findings in carriers of DMD pathogenic variants (cDMD) vs healthy controls. METHODS: Twenty-eight women (15 cDMD and 13 controls) underwent clinical evaluation and MUS...
March 22, 2024: Muscle & Nerve
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