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https://www.readbyqxmd.com/read/29353237/beyond-motor-neurons-expanding-the-clinical-spectrum-in-kennedy-s-disease
#1
REVIEW
Raquel Manzano, Gianni Sorarú, Christopher Grunseich, Pietro Fratta, Emanuela Zuccaro, Maria Pennuto, Carlo Rinaldi
Kennedy's disease, or spinal and bulbar muscular atrophy (SBMA), is an X-linked neuromuscular condition clinically characterised by weakness, atrophy and fasciculations of the limb and bulbar muscles, as a result of lower motor neuron degeneration. The disease is caused by an abnormally expanded triplet repeat expansions in the ubiquitously expressed androgen receptor gene, through mechanisms which are not entirely elucidated. Over the years studies from both humans and animal models have highlighted the involvement of cell populations other than motor neurons in SBMA, widening the disease phenotype...
January 20, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29352809/a-novel-plec-nonsense-homozygous-mutation-c-7159g%C3%A2-%C3%A2-t-p-glu2387-causes-epidermolysis-bullosa-simplex-with-muscular-dystrophy-and-diffuse-alopecia-a-case-report
#2
Zoe Argyropoulou, Lu Liu, Linda Ozoemena, Claudia C Branco, Raquel Senra, Ângela Reis-Rego, Luisa Mota-Vieira
BACKGROUND: Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM #226670) is an autosomal recessive disease, characterized mainly by skin blistering at birth or shortly thereafter, progressive muscle weakness, and rarely by alopecia. EBS-MD is caused by mutations in the PLEC gene (OMIM *601282), which encodes plectin, a structural protein expressed in several tissues, including epithelia and muscle. We describe a patient affected with EBS-MD and diffuse alopecia in which we identified a novel pathogenic mutation by PCR amplification of all coding exons and exon-intron boundaries of PLEC gene, followed by bidirectional Sanger sequencing...
January 20, 2018: BMC Dermatology
https://www.readbyqxmd.com/read/29351413/mitochondrial-content-is-preserved-throughout-disease-progression-in-the-mdx-mouse-model-of-duchenne-muscular-dystrophy-regardless-of-taurine-supplementation
#3
Robert G Barker, Victoria L Wyckelsma, Hongyang Xu, Robyn M Murphy
Mitochondrial dysfunction is a pathological feature of Duchenne muscular Dystrophy (DMD), a debilitating and fatal neuromuscular disorder characterised by progressive muscle wasting and weakness. Mitochondria are a source of cellular ATP and involved in Ca2+ regulation and apoptotic signalling. Ameliorating aberrant mitochondrial function has therapeutic potential for reducing DMD disease severity. The dystrophic mdx mouse exhibits peak muscle damage at 21-28d which stabilises after 8 weeks. The amino acid taurine is implicated in mitochondrial health and function, with endogenous concentrations low when measured during the cycle of peak muscle damage in mdx mice...
December 20, 2017: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/29351126/incidence-and-risk-factors-for-falls-in-women-with-end-stage-hip-osteoarthritis
#4
Hisashi Ikutomo, Koutatsu Nagai, Keiichi Tagomori, Namika Miura, Norikazu Nakagawa, Kensaku Masuhara
BACKGROUND AND PURPOSE: Fall-induced injuries and resulting deaths are a serious health problem among older adults. The most common risk factors for falls in older adults are muscle weakness, gait deficiencies, and balance deficits. Patients with end-stage hip osteoarthritis (OA) also have many hip dysfunctions, and these all have the potential to increase the risk of falls. However, the incidence and risk factors for falls in patients with end-stage hip OA remain unclear. The aim of this study was to determine the incidence of falls in women with end-stage hip OA and to identify risk factors for falls in this patient population...
January 18, 2018: Journal of Geriatric Physical Therapy
https://www.readbyqxmd.com/read/29351004/duchenne-muscular-dystrophy-dmd-an-updated-review-of-common-available-therapies
#5
Arash Salmaninejad, Saeed Farajzadeh Valilou, Hadi Bayat, Nader Ebadi, Abdolreza Daraei, Meysam Yousefi, Abolfazl Nesaei, Majid Mojarrad
Duchenne muscular dystrophy (DMD) is a lethal progressive pediatric muscle disorder and genetically inherited as an X-linked disease that caused by mutations in the dystrophin gene. DMD leads to progressive muscle weakness, degeneration, and wasting; finally, follows with the premature demise in affected individual's due to respiratory and/or cardiac failure typically by age of 30. For decades, scientists tried massively to find an effective therapy method, but there is no absolute cure currently for patients with DMD, nevertheless, recent advanced progressions on the treatment of DMD will be hopeful in the future...
January 19, 2018: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29350766/untangling-the-complexity-of-limb-girdle-muscular-dystrophies
#6
REVIEW
Teerin Liewluck, Margherita Milone
Limb-girdle muscular dystrophies (LGMD) are a group of genetically heterogeneous, autosomal inherited muscular dystrophies with childhood-to-adult onset, manifesting with hip and shoulder girdle muscle weakness. When the term LGMD was first conceptualized in 1954, it was thought to be a single entity. Currently, there are 8 autosomal dominant (LGMD1A-1H) and 26 autosomal recessive (LGMD2A-2Z) variants according to the Online Mendelian Inheritance in Man database. In addition, there are other genetically-identified muscular dystrophies with a LGMD phenotype not yet classified as LGMD...
January 19, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29350304/defective-mitochondrial-atpase-due-to-rare-mtdna-m-8969g-a-mutation-causing-lactic-acidosis-intellectual-disability-and-poor-growth
#7
Pirjo Isohanni, Christopher J Carroll, Christopher B Jackson, Max Pohjanpelto, Tuula Lönnqvist, Anu Suomalainen
Mutations in mitochondrial ATP synthase 6 (MT-ATP6) are a frequent cause of NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) or Leigh syndromes, especially a point mutation at nucleotide position 8993. M.8969G>A is a rare MT-ATP6 mutation, previously reported only in three individuals, causing multisystem disorders with mitochondrial myopathy, lactic acidosis, and sideroblastic anemia or IgA nephropathy. We present two siblings with the m.8969G>A mutation and a novel, substantially milder phenotype with lactic acidosis, poor growth, and intellectual disability...
January 19, 2018: Neurogenetics
https://www.readbyqxmd.com/read/29350006/-the-shor-term-clinical-outcomes-and-safety-of-extreme-lateral-interbody-fusion-combined-with-percutaneous-pedicle-screw-fixation-for-the-treatment-of-degenerative-lumbar-disease
#8
Xu-Dong Hu, Wei-Hu Ma, Wei-Yu Jiang, Chao-Yue Ruan, Yun-Lin Chen
OBJECTIVE: To evaluate the early efficacy and safety of extreme lateral interbody fusion (XLIF) combined with percutaneous pedicle screw fixation for lumbar degenerative disease. METHODS: From January 2013 to June 2014, 13 patients with degenerative lumbar disease were treated with XLIF combined with percutaneous pedicle screw fixation, including 8 cases of lumbar instability, 5 cases of mild to moderate lumbar spondylolisthesis;there were 5 males and 8 females, aged from 56 to 73 years with an average of 62...
February 25, 2017: Zhongguo Gu Shang, China Journal of Orthopaedics and Traumatology
https://www.readbyqxmd.com/read/29349669/positive-correlation-between-matrix-metalloproteinases-and-epithelial-to-mesenchymal-transition-and-its-association-with-clinical-outcome-in-bladder-cancer-patients
#9
R Singh, A Mandhani, V Agrawal, Minal Garg
Involvement of matrix metalloproteinases (MMPs) in the pathogenesis of urothelial carcinoma elects them to be sensitive marker for clinical and prognostic implications. MMPs regulate tumor growth and invasion by inducing epithelial-to-mesenchymal transition (EMT) which is characterized by the complex reprogramming of epithelial cells and ultimately bring about major changes in the structural organization of bladder urothelium. The present study has been undertaken to evaluate the clinical relevance of MMPs in two distinct types of bladder cancer disease...
January 18, 2018: Cancer Microenvironment: Official Journal of the International Cancer Microenvironment Society
https://www.readbyqxmd.com/read/29349093/preseason-adductor-squeeze-strength-in-303-spanish-male-soccer-athletes-a-cross-sectional-study
#10
Ernest Esteve, Michael Skovdal Rathleff, Jordi Vicens-Bordas, Mikkel Bek Clausen, Per Hölmich, Lluís Sala, Kristian Thorborg
Background: Hip adductor muscle weakness and a history of groin injury both have been identified as strong risk factors for sustaining a new groin injury. Current groin pain and age have been associated with hip adductor strength. These factors could be related, but this has never been investigated. Purpose: To investigate whether soccer athletes with past-season groin pain and with different durations of past-season groin pain had lower preseason hip adductor squeeze strength compared with those without past-season groin pain...
January 2018: Orthopaedic Journal of Sports Medicine
https://www.readbyqxmd.com/read/29346717/anterior-cruciate-ligament-tear-induces-a-sustained-loss-of-muscle-fiber-force-production
#11
Jonathan P Gumucio, Kristoffer B Sugg, Elizabeth R Sibilsky Enselman, Alexis C Konja, Logan R Eckhardt, Asheesh Bedi, Christopher L Mendias
INTRODUCTION: Patients with anterior cruciate ligament (ACL) tears have persistent quadriceps strength deficits that are thought to be due to altered neurophysiological function. Our goal was to determine the changes in muscle fiber contractility independent of the ability of motor neurons to activate fibers. METHODS: We obtained quadriceps biopsies of patients undergoing ACL reconstruction, and additional biopsies one, two, and six months after surgery. Muscles fiber contractility was assessed in vitro, along with whole muscle strength testing...
January 18, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29345963/deletion-of-estrogen-receptor-alpha-in-skeletal-muscle-results-in-impaired-contractility-in-female-mice
#12
Brittany C Collins, Tara L Mader, Christine A Cabelka, Melissa R Iñigo, Espen E Spangenburg, Dawn A Lowe
Estradiol deficiency in females can result in skeletal muscle strength loss, and treatment with estradiol mitigates the loss. There are three primary estrogen receptors and estradiol elicits effects through these receptors in various tissues. Ubiquitous estrogen receptor α (ERα) knockout mice exhibit numerous biological disorders, but little is known regarding the specific role of ERα in skeletal muscle contractile function. The purpose of this study was to determine the impact of skeletal muscle specific ERα deletion on contractile function, hypothesizing that ERα is a main receptor through which estradiol affects muscle strength in females...
January 18, 2018: Journal of Applied Physiology
https://www.readbyqxmd.com/read/29344738/genetic-and-functional-analysis-of-the-ryr1-mutation-p-thr84met-revealed-a-susceptibility-to-malignant-hyperthermia
#13
Takashi Kondo, Toshimichi Yasuda, Keiko Mukaida, Sachiko Otsuki, Rieko Kanzaki, Hirotsugu Miyoshi, Hiroshi Hamada, Ichizo Nishino, Masashi Kawamoto
PURPOSE: The aim of this study was to analyze the genetic and functional role of a novel RYR1 variant c.251 C > T (p.Thr84Met) identified in a patient with muscle weakness demonstrating MH susceptibility. METHODS: DNA testing of family members was conducted for assessment of pathogenicity of the genetic variant. For functional analysis, Ca2+ measurement using patient-derived myotubes and p.Thr84Met RYR1-transfected human embryonic kidney (HEK)-293 cells was performed to evaluate reactivity to RYR1 activators...
January 17, 2018: Journal of Anesthesia
https://www.readbyqxmd.com/read/29343633/hydrogel-biomaterials-and-their-therapeutic-potential-for-muscle-injuries-and-muscular-dystrophies
#14
REVIEW
Rachel Lev, Dror Seliktar
Muscular diseases such as muscular dystrophies and muscle injuries constitute a large group of ailments that manifest as muscle weakness, atrophy or fibrosis. Although cell therapy is a promising treatment option, the delivery and retention of cells in the muscle is difficult and prevents sustained regeneration needed for adequate functional improvements. Various types of biomaterials with different physical and chemical properties have been developed to improve the delivery of cells and/or growth factors for treating muscle injuries...
January 2018: Journal of the Royal Society, Interface
https://www.readbyqxmd.com/read/29343142/a-500%C3%A2-u-2%C3%A2-ml-dilution-of-abobotulinumtoxina-vs-placebo-randomized-study-in-cervical-dystonia
#15
Mark F Lew, Allison Brashear, Khashayar Dashtipour, Stuart Isaacson, Robert A Hauser, Pascal Maisonobe, Daniel Snyder, William Ondo
Purpose/aim: AbobotulinumtoxinA (Dysport®, Ipsen Biopharmaceuticals, Inc., Basking Ridge, NJ, USA) is an acetylcholine release inhibitor and a neuromuscular blocking agent. The United States prescribing information for abobotulinumtoxinA previously indicated only one dilution for cervical dystonia: 500 U/1 mL. Clinical trial data supporting a larger volume with a 500 U/2 mL dilution would offer clinicians flexibility with injection volume to better meet patient needs. MATERIALS AND METHODS: We conducted a 12-week, phase 3b, multicenter, randomized, double-blind, placebo-controlled trial (NCT01753310)...
January 17, 2018: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29341362/a-novel-mutation-of-lrsam1-in-a-chinese-family-with-charcot-marie-tooth-disease
#16
Guohua Zhao, Jie Song, Mi Yang, Xiuhua Song, Xiaomin Liu
Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathy characterized by progressive distal muscle weakness and atrophy with decreased or absent tendon reflexes. Mutations in LRSAM1 have been identified to cause CMT disease type 2P. We report a novel LRSAM1 mutation c.2021-2024del (p.E674VfsX11) in a Chinese autosomal dominant CMT disease type 2 family. The phenotype was characterized by late onset and mild sensory impairment. Electrophysiological findings showed normal or mildly to moderately reduced motor and sensory nerve conduction velocities in lower and upper limb nerves...
January 17, 2018: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/29340258/atypical-initial-presentation-of-painful-muscle-cramps-in-a-patient-with-amyotrophic-lateral-sclerosis-a-case-report-and-brief-review-of-the-literature
#17
Aaron R Kuzel, Muhammad Uzair Lodhi, Intekhab Askari Syed, Mustafa Rahim
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized clinically by progressive muscle weakness that can occur proximally or distally in either the upper or lower extremities. It includes both upper motor neuron signs (spasticity, hyperreflexia, clonus, and Babinski sign) and lower motor neuron signs (atrophy, weakness, and muscle fasciculation). Initial presentation of progressively painful muscle cramps should lead the physician to screen for other signs of amyotrophic lateral sclerosis...
November 10, 2017: Curēus
https://www.readbyqxmd.com/read/29339779/novel-recessive-mutations-in-msto1-cause-cerebellar-atrophy-with-pigmentary-retinopathy
#18
Kazuhiro Iwama, Toru Takaori, Ai Fukushima, Jun Tohyama, Akihiko Ishiyama, Chihiro Ohba, Satomi Mitsuhashi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Shuichi Ito, Hirotomo Saitsu, Takeshi Mizuguchi, Naomichi Matsumoto
Misato 1, mitochondrial distribution and morphology regulator (encoded by the MSTO1 gene), is involved in mitochondrial distribution and morphology. Recently, MSTO1 mutations have been shown to cause clinical manifestations suggestive of mitochondrial dysfunction, such as muscle weakness, short stature, motor developmental delay, and cerebellar atrophy. Both autosomal dominant and recessive modes of inheritance have been suggested. We performed whole-exome sequencing in two unrelated patients showing cerebellar atrophy, intellectual disability, and pigmentary retinopathy...
January 16, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29339735/phenotype-and-functional-features-of-human-telomerase-reverse-transcriptase-immortalized-human-airway-smooth-muscle-cells-from-asthmatic-and-non-asthmatic-donors
#19
J K Burgess, A Ketheson, A Faiz, K A Limbert Rempel, B G Oliver, J P T Ward, A J Halayko
Asthma is an obstructive respiratory disease characterised by chronic inflammation with airway hyperresponsiveness. In asthmatic airways, there is an increase in airway smooth muscle (ASM) cell bulk, which differs from non-asthmatic ASM in characteristics. This study aimed to assess the usefulness of hTERT immortalisation of human ASM cells as a research tool. Specifically we compared proliferative capacity, inflammatory mediator release and extracellular matrix (ECM) production in hTERT immortalised and parent primary ASM cells from asthmatic and non-asthmatic donors...
January 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29339325/induction-of-anti-agrin-antibodies-causes-myasthenia-gravis-in-mice
#20
Min Yan, Ziyang Liu, Erkang Fei, Wenbing Chen, Xinsheng Lai, Bin Luo, Peng Chen, Hongyang Jing, Jin-Xiu Pan, Michael H Rivner, Wen-Cheng Xiong, Lin Mei
Myasthenia gravis (MG) is an autoimmune disorder ofthe neuromuscular junction (NMJ). Most cases of MG are caused by autoantibodies against the acetylcholine receptor (AChR),muscle-specific kinase (MuSK) and low-density lipoprotein receptor-related protein 4 (LRP4). Recent studies have identified anti-agrin antibodies in MG patients lacking these three antibodies (i.e., triple negative MG). Agrin is a basal lamina protein that has two isoforms. Neural agrin (N-agrin) binds to LRP4 to activate MuSK to induce AChR clusters and is thus critical for NMJ formation...
January 12, 2018: Neuroscience
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