177,192 results match your criteria Myopathies


Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.

Nat Commun 2019 Feb 15;10(1):797. Epub 2019 Feb 15.

Instituto de Investigaciones Biomédicas "Alberto Sols", CSIC-UAM, 28029, Madrid, Spain.

FXR1 is an alternatively spliced gene that encodes RNA binding proteins (FXR1P) involved in muscle development. In contrast to other tissues, cardiac and skeletal muscle express two FXR1P isoforms that incorporate an additional exon-15. We report that recessive mutations in this particular exon of FXR1 cause congenital multi-minicore myopathy in humans and mice. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41467-019-08548-9DOI Listing
February 2019

OMERACT 2018 Modified Patient-reported Outcome Domain Core Set in the Life Impact Area for Adult Idiopathic Inflammatory Myopathies.

J Rheumatol 2019 Feb 15. Epub 2019 Feb 15.

From the Department of Learning, Informatics and Medical Education, Karolinska Institutet; Function Area Occupational Therapy and Physical Therapy, Allied Health Professionals Function, Karolinska University Hospital, Department of Neurobiology, Care Science and Society, Division of Physiotherapy and Department of Medicine, Karolinska Institutet; Division of Rheumatology, Rheumatology Unit, Department of Medicine, Karolinska Institutet, Solna, Sweden; Division of Rheumatology, Department of Medicine, Johns Hopkins University, Baltimore, Maryland, USA; Division of Rheumatology, Department of Internal Medicine, Medical Research Center, College of Medicine, Department of Molecular Medicine and Biopharmaceutical Sciences, Seoul National University, Seoul, Korea; Division of Rheumatology, Fiona Stanley Hospital, Institute for Immunology and Infectious Diseases, Murdoch University, Perth; The Notre Dame University Fremantle, Fremantle, Australia; Amsterdam UMC, University of Amsterdam, Department of Neurology, Amsterdam Neuroscience, Amsterdam, the Netherlands; Center for Global Health, University of Ottawa, Ottawa, Ontario, Canada. Support for this project comes from a grant from the Korea Health Technology R&D Project through the Korea Health Industry Development Institute, funded by the Ministry of Health & Welfare, Republic of Korea (grant number: HI14C1277); The Swedish Rheumatism Association; The Börje Olhagen foundation (supported by grants provided by the Stockholm County Council ALF project); the Diplomat Specialty Infusion Group; Option Care; and Nufactor Inc. M. Regardt, PhD, Occupational Therapist, Department of Learning, Informatics and Medical Education, Karolinska Institutet, and Function Area Occupational Therapy and Physical Therapy, Allied Health Professionals Function, Karolinska University Hospital; C.A. Mecoli, MD, Division of Rheumatology, Department of Medicine, Johns Hopkins University; J.K. Park, MD, PhD, Division of Rheumatology, Department of Internal Medicine, Seoul National University Hospital; I. de Groot, Patient Research Partner; C. Sarver, Patient Research Partner; M. Needham, MD, Division of Rheumatology, Fiona Stanley Hospital, Institute for Immunology and Infectious Diseases, Murdoch University, and The Notre Dame University; M. de Visser, MD, PhD, Amsterdam UMC, University of Amsterdam, Department of Neurology, Amsterdam Neuroscience; B. Shea, MSN, Center for Global Health, University of Ottawa; C.O. Bingham III, MD, Division of Rheumatology, Department of Medicine, Johns Hopkins University; I.E. Lundberg, MD, PhD, Division of Rheumatology, Rheumatology Unit, Department of Medicine, Karolinska Institutet; Y.W. Song, MD, PhD, Division of Rheumatology, Department of Internal Medicine, Medical Research Center, College of Medicine, Department of Molecular Medicine and Biopharmaceutical Sciences, Seoul National University; L. Christopher-Stine, MD, Division of Rheumatology, Department of Medicine, Johns Hopkins University; H. Alexanderson, PhD, Physiotherapist, Department of Neurobiology, Care Science and Society, Division of Physiotherapy and Department of Medicine Solna, Karolinska Institutet, and Function Area Occupational Therapy and Physical Therapy, Allied Health Professionals Function, Karolinska University Hospital. M. Regardt and Dr. C. Mecoli are co-first authors. Address correspondence to M. Regardt, Function Area Occupational Therapy and Physical Therapy, Karolinska University Hospital, Department of LIME, Karolinska Institutet, Solna, 171 76 Stockholm, Sweden. E-mail: Accepted for publication December 21, 2018.

Objective: To present and vote on a myositis modified patient-reported outcome core domain set in the life impact area at the Outcome Measures in Rheumatology (OMERACT) 2018.

Methods: Based on results from international focus groups and Delphi surveys, a draft core set was developed.

Results: Domains muscle symptoms, fatigue, level of physical activity, and pain reached ≥ 70% consensus and were mandatory to assess in all trials. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3899/jrheum.181065DOI Listing
February 2019

Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients.

Orphanet J Rare Dis 2019 Feb 14;14(1):43. Epub 2019 Feb 14.

Department of Neurology, Peking University First Hospital, 8 Xishiku St, Xicheng District, Beijing, 100034, China.

Background: Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D, LGMD2E, and LGMD2F) that are caused, respectively, by mutations in the SGCG, SGCA, SGCB, and SGCD genes. Knowledge about the clinical and genetic features of sarcoglycanopathies in Chinese patients is limited. The aims of this study were to investigate in detail the clinical manifestations, sarcoglycan expression, and gene mutations in Chinese patients with sarcoglycanopathies and to identify possible correlations between them. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-019-1021-9DOI Listing
February 2019

Non-familial cardiomyopathies in Lebanon: exome sequencing results for five idiopathic cases.

BMC Med Genomics 2019 Feb 14;12(1):33. Epub 2019 Feb 14.

Department of Biochemistry and Molecular Genetics, American University of Beirut Faculty of Medicine and Medical Center (AUBMC), Phase I, 8th floor, Room C-823, PO Box 11-0236, Riad El-Solh, Beirut, 1107 2020, Lebanon.

Background: Cardiomyopathies affect more than 0.5% of the general population. They are associated with high risk of sudden cardiac death, which can result from either heart failure or electrical abnormalities. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12920-019-0478-7DOI Listing
February 2019

Diagnostic Imaging of Inflammatory Myopathies: New Concepts and a Radiological Approach.

Curr Rheumatol Rep 2019 Feb 14;21(3). Epub 2019 Feb 14.

Department of Radiology, Escola Paulista de Medicina, Federal University of Sao Paulo (UNIFESP), São Paulo, Brazil.

Purpose Of Review: The purpose of this review article is to highlight the current role of diagnostic imaging in the assessment of inflammatory myopathies.

Recent Findings: Recent research demonstrates that imaging plays an important role in evaluating patients with symptoms of an inflammatory myopathy. In general, MRI is the pivotal imaging modality for assessing inflammatory myopathies, revealing precise anatomic details because of changes in the signal intensity of the muscles. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11926-019-0807-zDOI Listing
February 2019

Characteristics and advantages of adeno-associated virus vector-mediated gene therapy for neurodegenerative diseases.

Neural Regen Res 2019 Jun;14(6):931-938

Department of Hand Surgery, the Second Hospital of Jilin University, Changchun, Jilin Province, China.

Common neurodegenerative diseases of the central nervous system are characterized by progressive damage to the function of neurons, even leading to the permanent loss of function. Gene therapy via gene replacement or gene correction provides the potential for transformative therapies to delay or possibly stop further progression of the neurodegenerative disease in affected patients. Adeno-associated virus has been the vector of choice in recent clinical trials of therapies for neurodegenerative diseases due to its safety and efficiency in mediating gene transfer to the central nervous system. Read More

View Article

Download full-text PDF

Source
http://www.nrronline.org/text.asp?2019/14/6/931/250570
Publisher Site
http://dx.doi.org/10.4103/1673-5374.250570DOI Listing
June 2019
1 Read

Mineralocorticoid Receptor Antagonists Improve Membrane Integrity Independent of Muscle Force in Muscular Dystrophy.

Hum Mol Genet 2019 Feb 13. Epub 2019 Feb 13.

Department of Physiology and Cell Biology.

Mineralocorticoid receptor (MR) drugs have been used clinically for decades to treat cardiovascular diseases. MR antagonists show preclinical efficacy not only for heart in Duchenne muscular dystrophy models, but also improve skeletal muscle force and muscle membrane integrity. The mechanisms of action of MR antagonists in skeletal muscles are entirely unknown. Read More

View Article

Download full-text PDF

Source
https://academic.oup.com/hmg/advance-article/doi/10.1093/hmg
Publisher Site
http://dx.doi.org/10.1093/hmg/ddz039DOI Listing
February 2019
1 Read

Rutin attenuates inflammatory responses induced by lipopolysaccharide in an in vitro mouse muscle cell (C2C12) model.

Poult Sci 2019 Feb 9. Epub 2019 Feb 9.

Department of Animal Science, University of Manitoba, Winnipeg, Manitoba R3T 2N2, Canada.

White striping (WS) and woody breast (WB) are 2 of the major myopathies in the modern poultry industry. Even though the exact etiology for WS and WB is still unknown, differentially expressed genes in broiler breast muscle affected by WS and WB indicate that oxidative stress and inflammation could be involved in their occurrences. Therefore, it is very important to identify natural compounds with anti-oxidative stress and anti-inflammation properties that can reduce the occurrences of WS and WB in broiler chickens. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3382/ps/pez037DOI Listing
February 2019
1 Read

High intensity exercise for 3 months reduces disease activity in axial spondyloarthritis (axSpA): a multicentre randomised trial of 100 patients.

Br J Sports Med 2019 Feb 11. Epub 2019 Feb 11.

National Advisory Unit for Rehabilitation in Rheumatology, Department of Rheumatology, Diakonhjemmet Hospital, Oslo, Norway.

Background: Exercise is considered important in the management of patients with rheumatic diseases, but the effect of high intensity exercises on disease activity is unknown.

Objective: To investigate the effectiveness of high intensity exercises on disease activity in patients with axial spondyloarthritis (axSpA).

Method: Assessor blinded multicentre randomised controlled trial. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bjsports-2018-099943DOI Listing
February 2019

Population Pharmacokinetics of Vamorolone (VBP15) in Healthy Men and Boys With Duchenne Muscular Dystrophy.

J Clin Pharmacol 2019 Feb 11. Epub 2019 Feb 11.

Department of Pharmaceutical Sciences, University at Buffalo, State University of New York, Buffalo, NY, USA.

Duchenne muscular dystrophy (DMD) is an inherited neuromuscular disorder occurring in boys and caused by mutations in the dystrophin gene. Vamorolone is a first-generation delta-9,11 compound that has favorable efficacy and side effect profiles relative to classical glucocorticoids. The pharmacokinetics (PK) of oral vamorolone were assessed in parallel-group studies in healthy men (phase 1, n = 86) and boys with DMD (phase 2a, n = 48) during 14 days of once-daily dosing with a range of doses. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jcph.1388DOI Listing
February 2019
1 Read

Neuromuscular disorders in Israel: A model country for ethnic clusters.

Authors:
Zohar Argov

Neuromuscul Disord 2019 Jan 11. Epub 2019 Jan 11.

Department of Neurology, Hadassah Hebrew University Medical Center, Jerusalem, Israel. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S09608966193001
Publisher Site
http://dx.doi.org/10.1016/j.nmd.2019.01.003DOI Listing
January 2019
5 Reads

The inhibitory effect of antiretroviral drugs on the L-carnitine uptake in human placenta.

Toxicol Appl Pharmacol 2019 Feb 5. Epub 2019 Feb 5.

Department of Pharmacology and Toxicology, Faculty of Pharmacy in Hradec Kralove, Charles University, Czech Republic.

In spite of remarkable reduction in the number of children born with HIV due to antiretroviral therapy, concerns remain on the short- and long-term effects of antiretroviral drugs at the feto-placental unit. Cardio- and skeletal myopathies have been reported in children exposed to antiretroviral drugs prenatally. These conditions have also been described in perturbed placental transfer of l-carnitine, an essential co-factor in fatty acid oxidation. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.taap.2019.02.002DOI Listing
February 2019

Homozygous Nonsense Mutation (p.Arg97) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report.

Front Genet 2018 23;9:727. Epub 2019 Jan 23.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

Limb-girdle muscular dystrophy (LGMD) is an increasingly heterogeneous category of inherited muscle diseases, mainly affecting the muscles of shoulder areas and the hip, segregating in both autosomal recessive and dominant manner. To-date, thirty-one loci have been identified for LGMD including seven autosomal dominant (LGMD type 1) and twenty four autosomal recessive (LGMD type 2) inherited loci. The present report describes a consanguineous family segregating LGMD2F in an autosomal recessive pattern. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fgene.2018.00727DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6354032PMC
January 2019
1 Read

Photobiomodulation with simultaneous use of red and infrared light emitting diodes in the treatment of temporomandibular disorder: study protocol for a randomized, controlled and double-blind clinical trial.

Medicine (Baltimore) 2019 Feb;98(6):e14391

Universidade Nove de Julho, São Paulo, Brazil.

Introduction: Temporomandibular disorder (TMD) is considered the main cause of orofacial pain of non-dental origin, and a public health problem. The symptomatology is muscular and/or articular pain, restriction of the mandibular range of motion, and changes in the mandibular movement pattern. Due to its complexity there are already treatments using various forms of therapy. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MD.0000000000014391DOI Listing
February 2019

Modern creatinine (Bio)sensing: Challenges of point-of-care platforms.

Biosens Bioelectron 2019 Jan 30;130:110-124. Epub 2019 Jan 30.

Department of Chemistry, School of Engineering Science in Chemistry, Biochemistry and Health, Royal Institute of Technology, KTH, Teknikringen 30, SE-100 44 Stockholm, Sweden. Electronic address:

The importance of knowing creatinine levels in the human body is related to the possible association with renal, muscular and thyroid dysfunction. Thus, the accurate detection of creatinine may indirectly provide information surrounding those functional processes, therefore contributing to the management of the health status of the individual and early diagnosis of acute diseases. The questions at this point are: to what extent is creatinine information clinically relevant?; and do modern creatinine (bio)sensing strategies fulfil the real needs of healthcare applications? The present review addresses these questions by means of a deep analysis of the creatinine sensors reported in the literature over the last five years. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S09565663193007
Publisher Site
http://dx.doi.org/10.1016/j.bios.2019.01.048DOI Listing
January 2019
2 Reads

Applicability of the Protein-lipid Profile and Activity of Lactate Dehydrogenase Isoenzymes for Diagnosing Nutritional Muscular Dystrophy in Calves.

J Vet Res 2018 Dec 31;62(4):503-509. Epub 2018 Dec 31.

Department of Cattle and Sheep Diseases, National Veterinary Research Institute, 24-100 Pulawy, Poland.

Introduction: In calves, hyposelenosis degenerates skeletal muscles in different parts of the body. The extent of damage to muscle cells can be diagnosed by determining the activity of creatine kinase (CK), aspartate aminotransferase (AST), and lactate dehydrogenase (LDH). The aim of this study was to analyse variations in the serum levels of LDH isoenzymes in calves with nutritional muscular dystrophy (NMD), to determine the applicability of this parameter for diagnosing NMD, and to describe the influence of hyposelenosis on total protein (TP), triglyceride (TG), and cholesterol (CHOL) levels. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2478/jvetres-2018-0072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6364156PMC
December 2018

Screening and evaluation tools of dysphagia in adults with neuromuscular diseases: a systematic review.

Ther Adv Chronic Dis 2019 31;10:2040622318821622. Epub 2019 Jan 31.

Institut de Recherche Expérimentale et Clinique (IREC), Pôle de Pneumologie, ORL & Dermatologie, Université Catholique de Louvain, Brussels, Belgium.

Background: The purpose of this systematic review was to summarize the different dysphagia screening and evaluation tools, and to identify their measurement properties in adults with neuromuscular diseases (NMDs).

Methods: A systematic review was performed based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. The search strategy was conducted across three databases ( and ). Read More

View Article

Download full-text PDF

Source
http://journals.sagepub.com/doi/10.1177/2040622318821622
Publisher Site
http://dx.doi.org/10.1177/2040622318821622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357297PMC
January 2019
3 Reads

Comparison of 2 commercial turkey hybrids: productivity, occurrence of breast myopathies, and meat quality properties.

Poult Sci 2019 Feb 5. Epub 2019 Feb 5.

Department of Agricultural and Food Sciences, Alma Mater Studiorum-University of Bologna, 40064 Ozzano dell'Emilia (BO), Italy.

This study was undertaken to compare productive performance, occurrence of breast myopathies, chemical composition, and technological properties of the meat in 2 dominant commercial turkey hybrids. A total of 972 1-day-old male turkey poults (equally divided in hybrid A and B) were randomly distributed in 18 floor pens.Overall, productive performance resulted similar between the genotypes, although they showed different growth profile (turkeys from group B grew up faster up to 84 d). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3382/ps/pey607DOI Listing
February 2019

Patient-Derived Induced Pluripotent Stem Cells for Alpha-1 Antitrypsin Deficiency Disease Modeling and Therapeutic Discovery.

Chronic Obstr Pulm Dis 2018 Sep 15;5(4):258-266. Epub 2018 Sep 15.

Center for Regenerative Medicine of Boston University and Boston Medical Center, Boston, Massachusetts.

PIZZ alpha-1 antitrypsin deficiency (AATD) is an autosomal recessive disease affecting approximately 100,000 individuals in the United States and one of the most common hereditary causes of liver disease. The most common form of the disease results from a single base pair mutation (Glu342Lys), known as the "Z" mutation, that encodes a mutant protein (Z alpha-1 antritypsin [AAT]) that is prone to misfolding and is retained in the endoplasmic reticulum (ER) rather than appropriately secreted. Some of the retained mutant protein attains an unusual aggregated or conformation. Read More

View Article

Download full-text PDF

Source
https://journal.copdfoundation.org/jcopdf/id/1204/Patient-De
Publisher Site
http://dx.doi.org/10.15326/jcopdf.5.4.2017.0179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6361479PMC
September 2018
6 Reads

Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy.

Nat Commun 2019 Feb 5;10(1):605. Epub 2019 Feb 5.

Department of Pediatrics B', Emek Medical Center, Afula, Israel.

Nuclear envelopathies comprise a heterogeneous group of diseases caused by mutations in genes encoding nuclear envelope proteins. Mutations affecting lamina-associated polypeptide 1 (LAP1) result in two discrete phenotypes of muscular dystrophy and progressive dystonia with cerebellar atrophy. We report 7 patients presenting at birth with severe progressive neurological impairment, bilateral cataract, growth retardation and early lethality. Read More

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41467-019-08493-7
Publisher Site
http://dx.doi.org/10.1038/s41467-019-08493-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6363790PMC
February 2019
3 Reads

Coexistence of a CAV3 mutation and a DMD deletion in a family with complex muscular diseases.

Brain Dev 2019 Feb 2. Epub 2019 Feb 2.

Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.

Whole-exome sequencing (WES) can comprehensively detect both pathogenic single nucleotide variants and copy number variants, enabling identification of a coexistence of two or more genetic etiologies. Here we report a family consisting of individuals with Becker muscular dystrophy and rippling muscle disease. The proband, a 12-year-old boy, was diagnosed with Becker muscular dystrophy with exon 45-55 DMD deletions at age 4. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S03877604183059
Publisher Site
http://dx.doi.org/10.1016/j.braindev.2019.01.005DOI Listing
February 2019
3 Reads

Transspinal delivery of drugs by transdermal patch back-of-neck for Alzheimer's disease: a new route of administration.

Discov Med 2019 Jan;27(146):37-43

Severn Health Solutions, Severna Park, MD 21146, USA.

NSAIDs may prevent Alzheimer's disease (AD) but have failed as a treatment, possibly because only 1-2% of an oral NSAID dose reaches the brain. This minuscule dose is enough to have a preventative effect on Alzheimer's disease but not to treat it. We propose a new route of administration for drugs to treat AD: transspinal delivery by transdermal patch over the back-of-neck/cervical spine. Read More

View Article

Download full-text PDF

Source
January 2019
1 Read

No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy.

Epilepsia 2019 Feb 4. Epub 2019 Feb 4.

Cologne Center for Genomics, University of Cologne, Cologne, Germany.

Juvenile myoclonic epilepsy (JME) is a common syndrome of genetic generalized epilepsies (GGEs). Linkage and association studies suggest that the gene encoding the bromodomain-containing protein 2 (BRD2) may increase risk of JME. The present methylation and association study followed up a recent report highlighting that the BRD2 promoter CpG island (CpG76) is differentially hypermethylated in lymphoblastoid cells from Caucasian patients with JME compared to patients with other GGE subtypes and unaffected relatives. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/epi.14657DOI Listing
February 2019
1 Read

Development of Novel Micro-dystrophins with Enhanced Functionality.

Mol Ther 2019 Jan 25. Epub 2019 Jan 25.

Molecular and Cellular Biology Program, University of Washington School of Medicine, Seattle, WA 98195, USA; Department of Neurology, University of Washington School of Medicine, Seattle, WA 98195, USA; Senator Paul D. Wellstone Muscular Dystrophy Specialized Research Center, Seattle, WA 98195, USA; Department of Biochemistry, University of Washington School of Medicine, Seattle, WA 98195, USA; Department of Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA. Electronic address:

Gene therapies using adeno-associated viral (AAV) vectors have advanced into clinical trials for several diseases, including Duchenne muscular dystrophy (DMD). A limitation of AAV is the carrying capacity (∼5 kb) available for genes and regulatory cassettes (RCs). These size constraints are problematic for the 2. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymthe.2019.01.002DOI Listing
January 2019
1 Read

Denervation-induced skeletal muscle fibrosis is mediated by CTGF/CCN2 independently of TGF-β.

Matrix Biol 2019 Feb 1. Epub 2019 Feb 1.

Centro de Envejecimiento y Regeneración, CARE Chile UC, Chile; Departamento de Biología Celular y Molecular, Chile. Electronic address:

Muscular fibrosis is caused by excessive accumulation of extracellular matrix (ECM) that replaces functional tissue, and it is a feature of several myopathies and neuropathies. Knowledge of the biology and regulation of pro-fibrotic factors is critical for the development of new therapeutic strategies. Upon unilateral sciatic nerve transection, we observed accumulation of ECM proteins such as collagen and fibronectin in the denervated hindlimb, together with increased levels of the profibrotic factors transforming growth factor type β (TGF-β) and connective tissue growth factor (CTGF/CCN2). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.matbio.2019.01.002DOI Listing
February 2019
5.074 Impact Factor

Effect of different arginine-to-lysine ratios in broiler chicken diets on the occurrence of breast myopathies and meat quality attributes.

Poult Sci 2019 Jan 31. Epub 2019 Jan 31.

Department of Agricultural and Food Sciences, Alma Mater Studiorum-University of Bologna, 40064 Ozzano dell'Emilia, Italy.

This study was carried out to evaluate the effect of different digestible arginine-to-lysine (dig Arg:Lys) ratio in broiler diets on the occurrence of breast myopathies, productivity, and meat quality traits. A total of 1,755 1-day-old Ross 308 male chicks was randomly divided in 3 experimental groups (9 replications/group): CON, fed a 4 feeding-phases commercial diet (dig Arg:Lys ratio = 1.05, 1. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3382/ps/pey608DOI Listing
January 2019

Severe Neonatal RYR1 Myopathy With Pathological Features of Congenital Muscular Dystrophy.

J Neuropathol Exp Neurol 2019 Feb 4. Epub 2019 Feb 4.

Department of Pathology and Laboratory Medicine, Medical College of Wisconsin, Milwaukee, Wisconsin.

The phenotypes associated with pathogenic variants in the ryanodine receptor 1 gene (RYR1, OMIM# 180901) have greatly expanded over the last few decades as genetic testing for RYR1 variants has become more common. Initially described in association with malignant hyperthermia, pathogenic variants in RYR1 are typically associated with core pathology in muscle biopsies (central core disease or multiminicore disease) and symptomatic myopathies with symptoms ranging from mild weakness to perinatal lethality. We describe a 2-week-old male patient with multiple congenital dysmorphisms, severe perinatal weakness, and subsequent demise, whose histopathology on autopsy was consistent with congenital muscular dystrophy. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/jnen/nlz004DOI Listing
February 2019

Responsiveness to Change of 5-point MRC scale, Endurance and Functional Evaluation for Assessing Myositis in Daily Clinical Practice.

J Neuromuscul Dis 2019 ;6(1):99-107

Department of Internal Medicine and Clinical Immunology, National Reference Center of Neuromuscular disorders, Pitié-Salpêtrière University Hospital, Sorbonne Université, Paris, France.

Background: Manual muscle testing has been widely used for the evaluation of muscle strength in myositis, yet less attention has been devoted to the evaluation of muscle function and endurance.

Objective: Our objective was therefore to compare the responsiveness to change of muscle strength, endurance and functional testing following induction therapy for severe myositis flare (requiring high-dose corticosteroids and combined immunotherapy) in patients with a diagnosis of dermatomyositis, immune-mediated necrotizing myopathy, or overlap myositis.

Methods: Muscle status was assessed at baseline and after mean 6. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3233/JND-180358DOI Listing
January 2019
2 Reads

Unmet need in rheumatology: reports from the Targeted Therapies meeting 2018.

Ann Rheum Dis 2019 Feb 2. Epub 2019 Feb 2.

Swedish Medical Center, University of Washington, Seattle, Washington, USA.

To develop a comprehensive listing of the greatest unmet scientific and clinical needs in rheumatology. The 20th annual international Targeted Therapies meeting brought more than 100 leading basic scientists and clinical researchers in rheumatology, immunology, epidemiology, molecular biology and other specialties. During the meeting, breakout sessions were convened, consisting of five disease-specific groups with 20-30 experts assigned to each group based on expertise. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/annrheumdis-2018-214280DOI Listing
February 2019
5 Reads

Muscle pain in mitochondrial diseases: a picture from the Italian network.

J Neurol 2019 Feb 2. Epub 2019 Feb 2.

Neurological Clinic, University of Pisa, Pisa, Italy.

Muscle pain may be part of many neuromuscular disorders including myopathies, peripheral neuropathies and lower motor neuron diseases. Although it has been reported also in mitochondrial diseases (MD), no extensive studies in this group of diseases have been performed so far. We reviewed clinical data from 1398 patients affected with mitochondrial diseases listed in the database of the "Nation-wide Italian Collaborative Network of Mitochondrial Diseases", to assess muscle pain and its features. Read More

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00415-019-09219-x
Publisher Site
http://dx.doi.org/10.1007/s00415-019-09219-xDOI Listing
February 2019
4 Reads

You are what you eat: Sequence analysis reveals how plant microRNAs may regulate the human genome.

Comput Biol Med 2019 Mar 23;106:106-113. Epub 2019 Jan 23.

Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences (TUMS), Tehran, Iran. Electronic address:

Background: Nutrigenomic has revolutionized our understanding of nutrition. As plants make up a noticeable part of our diet, in the present study we chose microRNAs of edible plants and investigated if they can perfectly match human genes, indicating potential regulatory functionalities.

Methods: miRNAs were obtained using the PNRD database. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.compbiomed.2019.01.020DOI Listing

Juvenile idiopathic inflammatory myopathies: A clinicopathological study with emphasis on muscle histology.

Indian J Pathol Microbiol 2019 Jan-Mar;62(1):61-66

Department of Neurology, Institute of Neurological Sciences, Care Hospital, Hyderabad, Telangana, India.

Background: Juvenile idiopathic inflammatory myopathies (JIIM) are rare and heterogeneous. Subtype identification is important for treatment.

Materials And Methods: Patients below 18 years diagnosed as idiopathic inflammatory myopathy (IIM) according to the Bohan and Peter criteria between January 2010 and May 2015 were evaluated with muscle biopsy in the four domains: muscle fiber, inflammation, connective tissue, and vascular, with basic panel of histochemical stains as per recommendations of the European Neuromuscular center (ENMC) workshop 2015. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/IJPM.IJPM_387_17DOI Listing
February 2019
1 Read

Short-Term Ultramicronized Palmitoylethanolamide Therapy in Patients with Myasthenia Gravis: a Pilot Study to Possible Future Implications of Treatment.

CNS Neurol Disord Drug Targets 2019 Jan 31. Epub 2019 Jan 31.

Rare Neuromuscular Diseases Centre, Department of Neurology and Psychiatry, Sapienza University, Rome. Italy.

Background: The cannabinoid system may be involved in the humoral mechanisms at the neuromuscular junction. Ultramicronized-palmythoylethanolamide (µm-PEA) has recently been shown to reduce the desensitization of Acetylcholine (ACh)-evoked currents in denervated patients modifying the stability of ACh receptor (AChR) function.

Objective: To analyze the possible beneficial effects of µm-PEA in patients with myasthenia gravis (MG) on muscular fatigue and neurophysiological changes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2174/1871527318666190131121827DOI Listing
January 2019
1 Read

Systemic Delivery of Adeno-Associated Viral Vectors in Mice and Dogs.

Methods Mol Biol 2019 ;1937:281-294

Department of Veterinary Pathobiology, College of Veterinary Medicine, The University of Missouri, Columbia, MO, USA.

Many diseases affect multiple tissues and/or organ systems, or affect tissues that are broadly distributed. For these diseases, an effective gene therapy will require systemic delivery of the therapeutic vector to all affected locations. Adeno-associated virus (AAV) has been used as a gene therapy vector for decades in preclinical studies and human trials. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/978-1-4939-9065-8_18DOI Listing
January 2019
1 Read

Bethlem myopathy: a series of 16 patients and description of seven new associated mutations.

J Neurol 2019 Jan 31. Epub 2019 Jan 31.

Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain.

Background: Bethlem myopathy represents the milder phenotype of collagen type VI-related myopathies. However, clinical manifestations are highly variable among patients and no phenotype-genotype correlation has been described. We aim to analyse the clinical, pathological and genetic features of a series of patients with Bethlem myopathy, and we describe seven new mutations. Read More

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00415-019-09217-z
Publisher Site
http://dx.doi.org/10.1007/s00415-019-09217-zDOI Listing
January 2019
5 Reads

Positive influence of aqua exercise and burdock extract intake on fitness factors and vascular regulation substances in elderly.

J Clin Biochem Nutr 2019 Jan 13;64(1):73-78. Epub 2018 Oct 13.

Laboratory of Exercise Physiology, Department of Physical Education, Pusan National University, 2 Busandaehak-ro 63beon-gil, Geumjeong-gu, Busan 46241, Republic of Korea.

Health issues in elderly individuals are often complex and tend to lead to chronic diseases; such issues can be due to a decline in fitness resulting from lack of physical activity. Aqua exercise and burdock are positive effects on cardiovascular disease and vascular health. This study investigated the changes due to aqua exercise and burdock extract intake in senior fitness, prostaglandin I (PGI), and thromboxane A (TXA) in elderly women. Read More

View Article

Download full-text PDF

Source
https://www.jstage.jst.go.jp/article/jcbn/64/1/64_18-60/_art
Publisher Site
http://dx.doi.org/10.3164/jcbn.18-60DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6348416PMC
January 2019
2 Reads

Statins in Ophthalmology.

Surv Ophthalmol 2019 Jan 28. Epub 2019 Jan 28.

Save Sight Institute, University of Sydney, Sydney, New South Wales, Australia.

3-Hydroxy-3-methyl-gutaryl coenzyme A (HMG-CoA) reductase inhibitors or 'statins' are a class of lipid lowering drugs with anti-inflammatory, immunomodulatory, and vascular effects. Statins are increasingly being used in the treatment of a variety of medical conditions. We examine the actions of statins on the eye and its associated ophthalmic disorders. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.survophthal.2019.01.013DOI Listing
January 2019
7 Reads

[Two cases of rare diseases with abnormalities of X chromosome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Feb;36(2):151-153

Center of Genetics and Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.

Objective: To explore the clinical features and genetic diagnosis of two cases with rare diseases and X chromosome abnormalities.

Methods: Multiple ligation-dependent probe amplification (MLPA) and karyotype analysis were carried out on an 8-year-old girl who was diagnosed with Duchenne muscular dystrophy. Karyotype analysis and PCR assay for SRY and AZF genes were carried out for a-2-month-old male infant with short penis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.02.014DOI Listing
February 2019
3 Reads

Intramuscular hemangioma within the biceps brachii causing the limitations of elbow extension and forearm pronation: A case report.

Medicine (Baltimore) 2019 Feb;98(5):e14343

Department of Hand and Foot Surgery, The First Hospital of Jilin University, Changchun, Jilin, China.

Rationale: Intramuscular hemangiomas are rare benign vascular neoplasms, merely accounting for 0.8% of all hemangiomas. Moreover, there are few case reports of intramuscular hemangiomas in the upper extremities. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MD.0000000000014343DOI Listing
February 2019
7 Reads

ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).

Acta Neuropathol 2019 Jan 30. Epub 2019 Jan 30.

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), 1, rue Laurent Fries, BP 10142, 67404, Illkirch, France.

The identification of genes implicated in myopathies is essential for diagnosis and for revealing novel therapeutic targets. Here we characterize a novel subclass of congenital myopathy at the morphological, molecular, and functional level. Through exome sequencing, we identified de novo ACTN2 mutations, a missense and a deletion, in two unrelated patients presenting with progressive early-onset muscle weakness and respiratory involvement. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00401-019-01963-8DOI Listing
January 2019

The nuclear variant of bone morphogenetic protein 2 (nBMP2) is expressed in macrophages and alters calcium response.

Sci Rep 2019 Jan 30;9(1):934. Epub 2019 Jan 30.

Department of Microbiology and Molecular Biology, Brigham Young University, Provo, Utah, United States of America.

We previously identified a nuclear variant of bone morphogenetic protein 2 (BMP2), named nBMP2, that is translated from an alternative start codon. Decreased nuclear localization of nBMP2 in the nBmp2NLS mouse model leads to muscular, neurological, and immune phenotypes-all of which are consistent with aberrant intracellular calcium (Ca) response. Ca response in these mice, however, has yet to be measured directly. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41598-018-37329-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353957PMC
January 2019

Purine Homeostasis Is Necessary for Developmental Timing, Germline Maintenance and Muscle Integrity in .

Genetics 2019 Jan 30. Epub 2019 Jan 30.

Université de Bordeaux and CNRS UMR5095

Purine homeostasis is ensured through a metabolic network widely conserved from prokaryotes to humans. Purines can either be synthesized , reused, or produced by interconversion of extant metabolites using the so-called recycling pathway. Although thoroughly characterized in microorganisms, such as yeast or bacteria, little is known about the regulation of the purine biosynthesis network in metazoans. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1534/genetics.118.301062DOI Listing
January 2019

Optimization of Dexamethasone Administration for Maintaining Global Transduction Efficacy of Adeno-Associated Virus 9.

Hum Gene Ther 2019 Jan 31. Epub 2019 Jan 31.

University of North Carolina at Chapel Hill, 2331, gene therapy center , 104 Manning Dr , Thurston Building , Chapel Hill, North Carolina, United States , 27515 ;

Glucocorticoids have been commonly used in clinic due to anti-inflammatory and immunosuppressive effects and they have been proposed to be used to prevent liver toxicity when systemic administration of adeno-associated virus (AAV) vectors is needed in patients with central nervous system (CNS) diseases and muscular disorders. Glucocorticoids also enable modulation of vascular permeability. In this study we first investigated the impact of dexamethasone on AAV vascular permeability after systemic injection. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/hum.2018.233DOI Listing
January 2019
1 Read

Diffusion-weighted magnetic resonance imaging is useful for assessing inflammatory myopathies.

Muscle Nerve 2019 Jan 30. Epub 2019 Jan 30.

Muscle Research Unit, Radiology Department. Hospital Clínic de Barcelona, Universidad de Barcelona, Villarroel, 170, 08036, Barcelona, Spain.

Introduction: Short tau inversion recovery (STIR) sequences in whole-body MRI are usually used for detecting muscle edema (ME) in inflammatory myopathies. We evaluated b-value 800 diffusion-weighted imaging (b800 DWI).

Methods: Two radiologists independently and a consensus reader retrospectively reexamined 60 patients with inflammatory myopathies and 15 controls. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.26438DOI Listing
January 2019

[ORAI1 variation induced combined immunodeficiency: a case report and literature review].

Zhonghua Er Ke Za Zhi 2019 Feb;57(2):142-145

Department of Pediatrics, Xiangya Hospital of Central South University; Hunan Intellectual and Developmental Disabilities Research Center, Changsha 410008, China.

To summarize the clinical manifestations and gene variations of combined immunodeficiency caused by ORAI1 variation with a case report and literature review. The clinical data of the patient who was diagnosed with ORAI1 variation caused combined immunodeficiency in the Department of Pediatrics in Xiangya Hospital of Central South University in February 2018 were extracted and analyzed. The literature till August 2018 was searched with key words of 'ORAI1', and 'immunodeficiency' in both English and Chinese in the database of China national knowledge infrast ructure (CNKI), Wanfang and Pubmed. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3760/cma.j.issn.0578-1310.2019.02.015DOI Listing
February 2019
1 Read

[Clinical manifestations and genetics analysis of collagen type Ⅵ-related myopathy caused by variants in COL6A3 gene].

Zhonghua Er Ke Za Zhi 2019 Feb;57(2):136-141

Department of Neurology, Children's Hospital, Capital Institute of Pediatrics, Beijing 100020, China.

To summarize the clinical manifestations and determine the molecular etiology for two collagen type Ⅵ-related myopathy pedigrees. Two spontaneous collagen type Ⅵ-related myopathy patients were admitted to Department of Neurology, Children's Hospital, Capital Institute of Pediatrics in October 2017. Clinical data of probands and their family members were collected and their genomic DNA was obtained for genetic testing. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3760/cma.j.issn.0578-1310.2019.02.014DOI Listing
February 2019
1 Read

Blockade of Store-Operated Calcium Entry Reduces IL-17/TNF Cytokine-Induced Inflammatory Response in Human Myoblasts.

Front Immunol 2018 14;9:3170. Epub 2019 Jan 14.

Immunogenomics and Inflammation Research Unit EA4130, Department of Clinical Immunology and Rheumatology, Edouard Herriot Hospital, University of Lyon, Hospices Civils de Lyon, Lyon, France.

Muscle inflammation as in idiopathic inflammatory myopathies (IIM) leads to muscle weakness, mononuclear cell infiltration, and myofiber dysfunction affecting calcium channels. The effects of interleukin-17A (IL-17) and tumor necrosis factor-α (TNFα) on inflammation and calcium changes were investigated in human myoblasts. Human myoblasts were exposed to IL-17 and/or TNFα with/without store-operated Ca entry (SOCE) inhibitors (2-ABP or BTP2). Read More

View Article

Download full-text PDF

Source
https://www.frontiersin.org/article/10.3389/fimmu.2018.03170
Publisher Site
http://dx.doi.org/10.3389/fimmu.2018.03170DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6339936PMC
January 2019
7 Reads

Dietary potassium and available phosphorous on broiler growth performance, carcass characteristics, and wooden breast.

Poult Sci 2019 Jan 25. Epub 2019 Jan 25.

Prestage Department of Poultry Science, NC State University, Raleigh, NC 27695-7608.

Broiler dietary potassium (K) and available phosphorous (AvP) have decreased in recent years but both ions are intimately involved in the elimination of hydrogen ions that are produced during rapid growth. It was hypothesized that the decrease of these dietary electrolytes was related to the development of myopathies, and thus increased dietary K and/or AvP would reduce the occurrence of breast myopathies. A total of 320 Ross male broiler chicks were placed into 16 pens and fed 2 diet series containing either decreasing AvP levels of 0. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3382/ps/pez015DOI Listing
January 2019

Deleting nebulin's C-terminus reveals its importance to sarcomeric structure and function and is sufficient to invoke nemaline myopathy.

Hum Mol Genet 2019 Jan 24. Epub 2019 Jan 24.

Department of Cellular and Molecular Medicine, University of Arizona, Tucson, Arizona, 85721, USA.

Nebulin is a large skeletal muscle protein wound around the thin filaments, with its C-terminus embedded within the Z-disk and its N-terminus extending out towards the thin filament pointed end. While nebulin's C-terminus has been implicated in both sarcomeric structure and function as well as the development of nemaline myopathy, the contributions of this region remain largely unknown. Additionally, the C-terminus is reported to contribute to muscle hypertrophy via the IGF-1 growth pathway. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddz016DOI Listing
January 2019