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https://www.readbyqxmd.com/read/28820180/osteogenesis-imperfecta
#1
REVIEW
Joan C Marini, Antonella Forlino, Hans Peter Bächinger, Nick J Bishop, Peter H Byers, Anne De Paepe, Francois Fassier, Nadja Fratzl-Zelman, Kenneth M Kozloff, Deborah Krakow, Kathleen Montpetit, Oliver Semler
Skeletal deformity and bone fragility are the hallmarks of the brittle bone dysplasia osteogenesis imperfecta. The diagnosis of osteogenesis imperfecta usually depends on family history and clinical presentation characterized by a fracture (or fractures) during the prenatal period, at birth or in early childhood; genetic tests can confirm diagnosis. Osteogenesis imperfecta is caused by dominant autosomal mutations in the type I collagen coding genes (COL1A1 and COL1A2) in about 85% of individuals, affecting collagen quantity or structure...
August 18, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28819164/hypoxia-triggers-ifn-i-production-in-muscle-implications-in-dermatomyositis
#2
Noemí De Luna, Xavier Suárez-Calvet, Cinta Lleixà, Jordi Diaz-Manera, Montse Olivé, Isabel Illa, Eduard Gallardo
Dermatomyositis is an inflammatory myopathy characterized by symmetrical proximal muscle weakness and skin changes. Muscle biopsy hallmarks include perifascicular atrophy, loss of intramuscular capillaries, perivascular and perimysial inflammation and the overexpression of IFN-inducible genes. Among them, the retinoic-acid inducible gene 1 (RIG-I) is specifically overexpressed in perifascicular areas of dermatomyositis muscle. The aim of this work was to study if RIG-I expression may be modulated by hypoxia using an in vitro approach...
August 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28819079/-an-adult-case-of-enterovirus-d68-encephalomyelitis-presenting-as-bilateral-facial-nerve-palsy-and-dysphagia
#3
Yuta Kusabe, Akari Takeshima, Azusa Seino, Mana Nishida, Mami Takahashi, Shota Yamada, Junsuke Shimbo, Aki Sato, Kouichirou Okamoto, Shuichi Igarashi
A 33-year-old man was admitted to our hospital with bilateral facial nerve paralysis, dysphagia, and muscle weakness in the neck and trunk following fever, headache and throat pain. T<sub>2</sub>-weighted brain magnetic resonance imaging (MRI) showed hyperintense lesions in the tegmentum of the brain stem and the ventral region of the superior cervical cord. Based on the characteristic findings on the brain MRI, we diagnosed the patient with enteroviral encephalomyelitis. Steroid therapy was administered; however, his bilateral facial nerve paralysis and dysphagia were refractory to this therapy...
August 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/28819047/unusual-case-of-bilateral-hand-weakness
#4
Sayan Datta, Jeremy Cosgrove, Taimour Alam, Helen L Ford
A 35-year-old man presented with myalgia and bilateral hand weakness, 3 days after the onset of lethargy, fevers and rigours. The hand weakness caused functional impairment including difficulty pressing keys on his mobile phone. On examination, there was mild bilateral hand weakness with normal reflexes. His serum creatine kinase was mildly raised at 503 U/L (24-195), viral PCR throat swab was negative and electromyogram showed subtle myopathic changes in the distal forearm muscles. Nerve conduction studies found no evidence of neuropathy...
August 17, 2017: Practical Neurology
https://www.readbyqxmd.com/read/28818389/common-and-variable-clinical-histological-and-imaging-findings-of-recessive-ryr1-related-centronuclear-myopathy-patients
#5
Osorio Abath Neto, Cristiane de Araújo Martins Moreno, Edoardo Malfatti, Sandra Donkervoort, Johann Böhm, Júlio Brandão Guimarães, A Reghan Foley, Payam Mohassel, Jahannaz Dastgir, Diana Xerxes Bharucha-Goebel, Soledad Monges, Fabiana Lubieniecki, James Collins, Līvija Medne, Mariarita Santi, Sabrina Yum, Brenda Banwell, Emmanuelle Salort-Campana, John Rendu, Julien Fauré, Uluc Yis, Bruno Eymard, Chrystel Cheraud, Raphaël Schneider, Julie Thompson, Xaviere Lornage, Lilia Mesrob, Doris Lechner, Anne Boland, Jean-François Deleuze, Umbertina Conti Reed, Acary Souza Bulle Oliveira, Valérie Biancalana, Norma B Romero, Carsten G Bönnemann, Jocelyn Laporte, Edmar Zanoteli
Mutations in RYR1 give rise to diverse skeletal muscle phenotypes, ranging from classical central core disease to susceptibility to malignant hyperthermia. Next-generation sequencing has recently shown that RYR1 is implicated in a wide variety of additional myopathies, including centronuclear myopathy. In this work, we established an international cohort of 21 patients from 18 families with autosomal recessive RYR1-related centronuclear myopathy, to better define the clinical, imaging, and histological spectrum of this disorder...
May 30, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28816991/a-case-report-of-tracheal-inflammatory-myofibroblastic-tumor-in-a-34-week-pregnant-woman-misdiagnosed-with-asthma
#6
Xiaochen Li, Juan Li, Xiaoling Rao, Qilin Ao, Xiaopei Cao, Yali Huang, Shengding Zhang, Xiaoyu Fang, Xiansheng Liu, Min Xie
RATIONALE: Inflammatory myofibroblastic tumor (IMT) is an uncommon neoplastic entity with a tendency of local recurrence and a low risk of distant metastasis. Involvement of trachea is extremely rare. PATIENT CONCERNS: A 34-week pregnant woman previously diagnosed with asthma for 2 months was admitted with persistent wheezing and hemoptysis. A computed tomography scan and bronchoscopy revealed a gigantic polyp in the trachea. DIAGNOSES: Tracheal inflammatory myofibroblastic tumor...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28816769/do-psychosocial-factors-predict-muscle-strength-pain-or-physical-performance-in-patients-with-knee-osteoarthritis
#7
Isabel A C Baert, Mira Meeus, Armaghan Mahmoudian, Frank P Luyten, Jo Nijs, Sabine M P Verschueren
OBJECTIVE: The aim of this study was to examine the relationship of psychosocial factors, namely, pain catastrophizing, kinesiophobia, and maladaptive coping strategies, with muscle strength, pain, and physical performance in patients with knee osteoarthritis (OA)-related symptoms. METHODS: A total of 109 women (64 with knee OA-related symptoms) with a mean age of 65.4 years (49-81 years) were recruited for this study. Psychosocial factors were quantified by the Pain Catastrophizing Scale, Tampa Scale for Kinesiophobia, and Pain Coping Inventory...
August 14, 2017: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
https://www.readbyqxmd.com/read/28815944/neonatal-fractures-as-a-presenting-feature-of-lmod3-associated-congenital-myopathy
#8
Megan Abbott, Mahim Jain, Rachel Pferdehirt, Yuqing Chen, Alyssa Tran, Mehmet B Duz, Mehmet Seven, Richard A Gibbs, Donna Muzny, Brendan Lee, Ronit Marom, Lindsay C Burrage
Nemaline myopathy is a rare inherited disorder characterized by weakness, hypotonia, and depressed deep tendon reflexes. It is clinically and genetically heterogeneous, with the most severe phenotype presenting as perinatal akinesia, severe muscle weakness, feeding difficulties and respiratory failure, leading to early mortality. Pathogenic variants in 12 genes, encoding components of the sarcomere or factors related to myogenesis, have been reported in patients affected with the disorder. Here, we describe an early, lethal presentation of decreased fetal movements, hypotonia, muscle weakness, and neonatal respiratory failure requiring ventilator support in three siblings from a consanguineous family...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28813906/the-ewrist-a-wearable-wrist-exoskeleton-with-semg-based-force-control-for-stroke-rehabilitation
#9
Charles Lambelet, Mingxing Lyu, Daniel Woolley, Roger Gassert, Nicole Wenderoth
Chronic wrist impairment is frequent following stroke and negatively impacts everyday life. Rehabilitation of the dysfunctional limb is possible but requires extensive training and motivation. Wearable training devices might offer new opportunities for rehabilitation. However, few devices are available to train wrist extension even though this movement is highly relevant for many upper limb activities of daily living. As a proof of concept, we developed the eWrist, a wearable one degree-of-freedom powered exoskeleton which supports wrist extension training...
July 2017: IEEE ... International Conference on Rehabilitation Robotics: [proceedings]
https://www.readbyqxmd.com/read/28812460/myopathic-mtdna-depletion-syndrome-due-to-mutation-in-tk2-gene
#10
Elena Martín-Hernández, María Teresa García-Silva, Pilar Quijada-Fraile, María Elena Rodríguez-García, Henry Rivera, Aurelio Hernández-Laín, David Coca-Robinot, Joaquín Fernández-Toral, Joaquín Arenas, Miguel A Martín, Francisco Martínez-Azorín
Whole-exome sequencing was used to identify the disease gene(s) in a Spanish girl with failure to thrive, muscle weakness, mild facial weakness, elevated creatine kinase, deficiency of mitochondrial complex III and depletion of mtDNA. With whole-exome sequencing data, it was possible to get the whole mtDNA sequencing and discard any pathogenic variant in this genome. The analysis of whole exome uncovered a homozygous pathogenic mutation in thymidine kinase 2 gene ( TK2; NM_004614.4:c.323 C>T, p.T108M)...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28812230/simulation-of-left-ventricular-dynamics-using-a-low-order-mathematical-model
#11
Michael J Moulton, Brian D Hong, Timothy W Secomb
The eventual goal of this study is to develop methods for estimating dynamic stresses in the left ventricle (LV) that could be used on-line in clinical settings, based on routinely available measurements. Toward this goal, a low-order theoretical model is presented, in which LV shape is represented using a small number of parameters, allowing rapid computational simulations of LV dynamics. The LV is represented as a thick-walled prolate spheroid containing helical muscle fibers with nonlinear passive and time-dependent active contractile properties...
August 15, 2017: Cardiovascular Engineering and Technology
https://www.readbyqxmd.com/read/28812043/swallowing-markers-in-spinal-and-bulbar-muscular-atrophy
#12
Haruhiko Banno, Masahisa Katsuno, Keisuke Suzuki, Seiya Tanaka, Noriaki Suga, Atsushi Hashizume, Tomoo Mano, Amane Araki, Hirohisa Watanabe, Yasushi Fujimoto, Masahiko Yamamoto, Gen Sobue
OBJECTIVE: We examined the characteristics of dysphagia in spinal and bulbar muscular atrophy, a hereditary neuromuscular disease causing weakness of limb, facial, and oropharyngeal muscles via a videofluoroscopic swallowing study, and investigated the plausibility of using these outcome measures for quantitative analysis. METHODS: A videofluoroscopic swallowing study was performed on 111 consecutive patients with genetically confirmed spinal and bulbar muscular atrophy and 53 age- and sex-matched healthy controls...
August 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28810563/dystrophia-myotonica-type-1-presenting-with-dysarthria-a-case-report-and-literature-review
#13
Chunrong Li, Xiaoling Zhang, Chunkui Zhou, Lijun Zhu, Kangding Liu, Shaokuan Fang
Dystrophia myotonica (DM) type 1 is an autosomal dominant disorder, caused by a trinucleotide CTG repeat expansion in the 3' untranslated region of the dystrophia myotonica protein kinase (DMPK) gene (chromosome 19q13.3). The disorder affects different organ systems, including the skeletal muscles, ocular lens, lungs, heart and gastrointestinal tract, as well as the endocrine and central nervous systems. The skeletal muscles are most frequently involved, whereby the disorder manifests as myotonia, muscle weakness and amyotrophy...
August 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28810292/-clinicopathologic-features-of-mammary-microglandular-adenosis-with-carcinoma-a-study-of-5-cases
#14
W Chen, C Wang, Z H Zhang, W M Zhang, Y Xu, G X Song
Objective: To study the clinicopathologic, immunohistochemical features, differential diagnoses and prognosis of mammary microglandular adenosis with carcinoma (MGACA) with micropapillary pattern. Methods: Five cases of MGACA were collected from 2010 to 2016 and reviewed for their clinical, histologic features and outcome.EnVision method were done for S-100 protein, cytokeratin (CK), p63, Calponin, smooth muscle myosin heavy chain (SMMHC), PR, ER and HER2. Results: Histologically, microglandular adenosis(MGA), atypical MGA (AMGA) and invasive carcinoma were seen in all five cases of MGACA...
August 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/28810121/comparative-proteomic-and-transcriptomic-analysis-of-follistatin-induced-skeletal-muscle-hypertrophy
#15
Caroline Barbé, Fabrice Bray, Marine Gueugneau, Stéphanie Devassine, Pascale Lause, Caroline Tokarski, Christian Rolando, Jean-Paul Thissen
Skeletal muscle, the most abundant body's tissue, plays vital roles in locomotion and metabolism. Myostatin is a negative regulator of skeletal muscle mass. In addition to increase muscle mass, Myostatin inhibition impacts on muscle contractility and energy metabolism. To decipher the mechanisms of action of the Myostatin inhibitors, we used proteomic and transcriptomic approaches to investigate the changes induced in skeletal muscles of transgenic mice overexpressing Follistatin, a physiological Myostatin inhibitor...
August 15, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28809518/mir-542-promotes-mitochondrial-dysfunction-and-smad-activity-and-is-raised-in-icu-acquired-weakness
#16
Roser Farre Garros, Richard Paul, Martin Connolly, Amy Lewis, Benjamin E Garfield, S Amanda Natanek, Susannah Bloch, Vincent Mouly, Mark J Griffiths, Michael I Polkey, Paul R Kemp
RATIONALE: Loss of skeletal muscle mass and function is a common consequence of critical illness and a range of chronic diseases but the mechanisms by which this occurs are unclear. OBJECTIVES: We aimed to identify miRNAs that were increased in the quadriceps of patients with muscle wasting and to determine the molecular pathways by which they contributed to muscle dysfunction. METHODS: miR-542-3p/-5p were quantified in the quadriceps of patients with COPD and intensive care unit acquired weakness (ICUAW)...
August 15, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28808260/transcriptional-profiling-identifies-differential-expression-of-long-non-coding-rnas-in-jo-1-associated-and-inclusion-body-myositis
#17
Philip D Hamann, Benoit T Roux, James A Heward, Seth Love, Neil J McHugh, Simon W Jones, Mark A Lindsay
Myositis is characterised by muscle inflammation and weakness. Although generally thought to be driven by a systemic autoimmune response, increasing evidence suggests that intrinsic changes in the muscle might also contribute to the pathogenesis. Long non-coding RNAs (lncRNAs) are a family of novel genes that regulate gene transcription and translation. To determine the potential role of lncRNAs, we employed next generation sequencing to examine the transcriptome in muscle biopsies obtained from two histologically distinct patient populations, inclusion body myositis (IBM) and anti-Jo-1-associated myositis (Jo-1)...
August 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28808052/a-small-molecule-modulator-of-cardiac-myosin-acts-on-multiple-stages-of-the-myosin-chemomechanical-cycle
#18
Raja F Kawas, Robert L Anderson, Sadie R Bartholomew Ingle, Yonghong Song, Arvinder S Sran, Hector M Rodriguez
MYK-461 is a recently discovered novel small-molecule modulator of cardiac myosin that targets the underlying sarcomere hypercontractility of hypertrophic cardiomyopathy (HCM), one of the most prevalent heritable cardiovascular disorders. Studies on isolated cells and muscle fibers, as well as intact animals, have shown that MYK-461 inhibits sarcomere force production, thereby reducing cardiac function. Initial mechanistic studies have suggested that MYK-461 primarily reduces the steady-state ATPase activity by inhibiting the rate of phosphate release of β-cardiac myosin-S1, but the molecular mechanism of action of MYK-461 has not been described...
August 14, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28807894/advances-in-the-diagnosis-and-management-of-neck-pain
#19
REVIEW
Steven P Cohen, W Michael Hooten
Neck pain imposes a considerable personal and socioeconomic burden-it is one of the top five chronic pain conditions in terms of prevalence and years lost to disability-yet it receives a fraction of the research funding given to low back pain. Although most acute episodes resolve spontaneously, more than a third of affected people still have low grade symptoms or recurrences more than one year later, with genetics and psychosocial factors being risk factors for persistence. Nearly half of people with chronic neck pain have mixed neuropathic-nociceptive symptoms or predominantly neuropathic symptoms...
August 14, 2017: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/28806047/electrolytes-potassium-disorders
#20
Taiwona L Elliott
Hypokalemia (ie, potassium levels less than 3.5 mEq/L) occurs in fewer than 1% of healthy individuals, but is present in up to 20% of hospitalized patients, 40% of patients taking diuretics, and 17% of patients with cardiovascular conditions. Hypokalemia often is asymptomatic; symptoms are more common in older adults. Common symptoms are cardiac arrhythmias and muscle weakness or pain. Management consists of intravenous potassium replacement during cardiac monitoring for patients with marked symptoms, echocardiogram (ECG) abnormalities, or severe hypokalemia (ie, level less than 3...
August 2017: FP Essentials
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