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https://www.readbyqxmd.com/read/29331962/splicing-variant-of-wdfy4-augments-mda5-signalling-and-the-risk-of-clinically-amyopathic-dermatomyositis
#1
Yuta Kochi, Yoichiro Kamatani, Yuya Kondo, Akari Suzuki, Eiryo Kawakami, Ryosuke Hiwa, Yukihide Momozawa, Manabu Fujimoto, Masatoshi Jinnin, Yoshiya Tanaka, Takashi Kanda, Robert G Cooper, Hector Chinoy, Simon Rothwell, Janine A Lamb, Jiří Vencovský, Heřman Mann, Koichiro Ohmura, Keiko Myouzen, Kazuyoshi Ishigaki, Ran Nakashima, Yuji Hosono, Hiroto Tsuboi, Hidenaga Kawasumi, Yukiko Iwasaki, Hiroshi Kajiyama, Tetsuya Horita, Mariko Ogawa-Momohara, Akito Takamura, Shinichiro Tsunoda, Jun Shimizu, Keishi Fujio, Hirofumi Amano, Akio Mimori, Atsushi Kawakami, Hisanori Umehara, Tsutomu Takeuchi, Hajime Sano, Yoshinao Muro, Tatsuya Atsumi, Toshihide Mimura, Yasushi Kawaguchi, Tsuneyo Mimori, Atsushi Takahashi, Michiaki Kubo, Hitoshi Kohsaka, Takayuki Sumida, Kazuhiko Yamamoto
OBJECTIVES: Idiopathic inflammatory myopathies (IIMs) are a heterogeneous group of rare autoimmune diseases in which both genetic and environmental factors play important roles. To identify genetic factors of IIM including polymyositis, dermatomyositis (DM) and clinically amyopathic DM (CADM), we performed the first genome-wide association study for IIM in an Asian population. METHODS: We genotyped and tested 496 819 single nucleotide polymorphism for association using 576 patients with IIM and 6270 control subjects...
January 13, 2018: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/29331079/lmod3-associated-nemaline-myopathy-prenatal-ultrasonographic-pathologic-and-molecular-findings
#2
Michal Berkenstadt, Ben Pode-Shakked, Ortal Barel, Hila Barash, Reuven Achiron, Yinon Gilboa, Dvora Kidron, Annick Raas-Rothschild
To describe the prenatal presentation, including ultrasonographic, histologic, and molecular findings, in 2 fetuses affected with LMOD3-related nemaline myopathy. Prenatal ultrasonographic examinations and histopathologic studies were performed on 2 fetuses with evidence of nemaline myopathy. To establish a molecular diagnosis, whole-exome sequencing was pursued for the affected fetuses. Nemaline myopathy is a common form of congenital myopathy manifesting with nonprogressive generalized muscle weakness, hypotonia, and electron-dense protein inclusions in skeletal myofibers...
January 13, 2018: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/29330311/necrosis-in-anti-srp-and-anti-hmgcr-myopathies-role-of-autoantibodies-and-complement
#3
Yves Allenbach, Louiza Arouche-Delaperche, Corinna Preusse, Helena Radbruch, Gillian Butler-Browne, Nicolas Champtiaux, Kuberaka Mariampillai, Aude Rigolet, Peter Hufnagl, Norman Zerbe, Damien Amelin, Thierry Maisonobe, Sarah Louis-Leonard, Charles Duyckaerts, Bruno Eymard, Hans-Hilmar Goebel, Cecile Bergua, Laurent Drouot, Olivier Boyer, Olivier Benveniste, Werner Stenzel
OBJECTIVE: To characterize muscle fiber necrosis in immune-mediated necrotizing myopathies (IMNM) with anti-signal recognition particle (SRP) or anti-3-hydroxy-3-methylglutarylcoenzyme A reductase (HMGCR) antibodies and to explore its underlying molecular immune mechanisms. METHODS: Muscle biopsies from patients with IMNM were analyzed and compared to biopsies from control patients with myositis. In addition to immunostaining and reverse transcription PCR on muscle samples, in vitro immunostaining on primary muscle cells was performed...
January 12, 2018: Neurology
https://www.readbyqxmd.com/read/29329570/exophthalmos-in-a-young-woman-with-no-graves-disease-a-case-report-of-igg4-related-orbitopathy
#4
Annamaria Erdei, Zita Steiber, Csaba Molnar, Ervin Berenyi, Endre V Nagy
BACKGROUND: Immunoglobulin G4-related disease (IgG4-rd) is characterized by lymphoplasmacytic infiltration and tissue fibrosis. Orbital manifestations of IgG4-rd may include unilateral or bilateral proptosis, cicatricial extraocular muscle myopathy, orbital inflammation and pain which may mimic ophthalmic Graves' disease. CASE PRESENTATION: A 25-year-old woman has been referred to the endocrinology clinic, 4 months after delivery, with suspected Graves' orbitopathy...
January 12, 2018: BMC Ophthalmology
https://www.readbyqxmd.com/read/29329193/mustn1-a-developmentally-regulated-pan-musculoskeletal-cell-marker-and-regulatory-gene
#5
REVIEW
Michael Hadjiargyrou
The Mustn1 gene encodes a small nuclear protein (~9.6 kDa) that does not belong to any known family. Its genomic organization consists of three exons interspersed by two introns and it is highly homologous across vertebrate species. Promoter analyses revealed that its expression is regulated by the AP family of transcription factors, especially c-Fos, Fra-2 and JunD. Mustn1 is predominantly expressed in the major tissues of the musculoskeletal system: bone, cartilage, skeletal muscle and tendon. Its expression has been associated with normal embryonic development, postnatal growth, exercise, and regeneration of bone and skeletal muscle...
January 12, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29328539/early-detection-of-myocardial-involvement-by-t1-mapping-of-cardiac-mri-in-idiopathic-inflammatory-myopathy
#6
Liuyu Yu, Jianhong Sun, Jiayu Sun, Jiangbo Li, Yang Dong, Xiaoyue Zhou, Andreas Greiser, Yuchi Han, Qing Zhang, Qibing Xie, Yucheng Chen
BACKGROUND: Polymyositis (PM) and dermatomyositis (DM) are common types of idiopathic inflammatory myopathy (IIM), wherein patients are prone to adverse cardiovascular events. PURPOSE: To explore the value of cardiac magnetic resonance imaging (MRI) for detecting cardiac involvement in PM/DM patients using a T1 mapping technique. STUDY TYPE: Prospective observational study. POPULATION: In all, 25 PM/DM patients free of cardiovascular symptoms and preserved ventricular systolic function and 25 healthy volunteers matched for age and sex served as controls...
January 12, 2018: Journal of Magnetic Resonance Imaging: JMRI
https://www.readbyqxmd.com/read/29328520/dysfunctional-sarcomere-contractility-contributes-to-muscle-weakness-in-acta1-related-nemaline-myopathy-nem3
#7
B Joureau, J M de Winter, S Conijn, S J P Bogaards, I Kovacevic, A Kalganov, M Persson, J Lindqvist, G J M Stienen, T C Irving, W Ma, M Yuen, N F Clarke, D E Rassier, E Malfatti, N B Romero, A H Beggs, C A C Ottenheijm
OBJECTIVE: Nemaline myopathy (NM) is one of the most common congenital non-dystrophic myopathies and is characterized by muscle weakness, often from birth. Mutations in ACTA1 are a frequent cause of NM (i.e. NEM3). ACTA1 encodes alpha-actin 1, the main constituent of the sarcomeric thin filament. The mechanisms by which mutations in ACTA1 contribute to muscle weakness in NEM3 are incompletely understood. We hypothesized that sarcomeric dysfunction contributes to muscle weakness in NEM3 patients...
January 12, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29327420/expanding-the-phenotype-of-slc25a42-associated-mitochondrial-encephalomyopathy
#8
M Almannai, A Alsamri, A Alqasmi, E Faqeih, F AlMutairi, M Alotaibi, M M Samman, W Eyaid, Y I Aljadhai, H E Shamseldin, W Craigen, F S Alkuraya
SLC25A42 gene encodes an inner mitochondrial membrane protein that imports Co-enzyme A (CoA) into the mitochondrial matrix. A mutation in this gene was recently reported in a subject born to consanguineous parents who presented with mitochondrial myopathy with muscle weakness and lactic acidosis. In this report, we present 12 additional individuals with the same founder mutation who presented with variable manifestations ranging from asymptomatic lactic acidosis to a severe phenotype characterized by developmental regression and epilepsy...
January 12, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29322711/high-prevalence-of-hypovitaminosis-d-in-patients-presenting-with-proximal-muscle-weakness-a-sub-himalayan-study
#9
Jatinder Mokta, Balraj, Kiran Mokta, Asha Ranjan, Ivan Joshi, Mahak Garg
Background: Hypovitaminosis D has emerged as a major public health problem and 25-50% of patients encountered in clinical practice are deficient in vitamin D. This study was conducted to estimate the prevalence of hypovitaminosis D among patients presenting with proximal muscle weakness. Study Design: It was a cross-sectional study done on patients ≥18 years presenting in outdoor clinic from May 2008 to April 2013, with difficulty in standing and going up stairs/ diffuse musculoskeletal pains...
November 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/29320838/-advances-in-autoantibodies-of-idiopathic-inflammatory-myopathy-and-interstitial-lung-disease
#10
M M Xie, H R Cai
No abstract text is available yet for this article.
November 12, 2017: Chinese Journal of Tuberculosis and Respiratory Diseases
https://www.readbyqxmd.com/read/29320728/in%C3%A2-vivo-function-of-the-chaperonin-tric-in-%C3%AE-actin-folding-during-sarcomere-assembly
#11
Joachim Berger, Silke Berger, Mei Li, Arie S Jacoby, Anders Arner, Navid Bavi, Alastair G Stewart, Peter D Currie
The TCP-1 ring complex (TRiC) is a multi-subunit group II chaperonin that assists nascent or misfolded proteins to attain their native conformation in an ATP-dependent manner. Functional studies in yeast have suggested that TRiC is an essential and generalized component of the protein-folding machinery of eukaryotic cells. However, TRiC's involvement in specific cellular processes within multicellular organisms is largely unknown because little validation of TRiC function exists in animals. Our in vivo analysis reveals a surprisingly specific role of TRiC in the biogenesis of skeletal muscle α-actin during sarcomere assembly in myofibers...
January 9, 2018: Cell Reports
https://www.readbyqxmd.com/read/29319400/deep-lateral-wall-orbital-decompression-following-strabismus-surgery-in-patients-with-type-ii-ophthalmic-graves-disease
#12
Michael P Ellis, Emily C Broxterman, Alan R Hromas, Thomas J Whittaker, Jason A Sokol
PURPOSE: Surgical management of ophthalmic Graves' disease traditionally involves, in order, orbital decompression, followed by strabismus surgery and eyelid surgery. Nunery et al. previously described two distinct sub-types of patients with ophthalmic Graves' disease; Type I patients exhibit no restrictive myopathy (no diplopia) as opposed to Type II patients who do exhibit restrictive myopathy (diplopia) and are far more likely to develop new-onset worsening diplopia following medial wall and floor decompression...
January 10, 2018: Orbit
https://www.readbyqxmd.com/read/29319256/myopathy-effect-of-vitamin-d-deficiency-beyond-bones
#13
Kavita J Rawat, Nilakshi H Sabnis, Udit Saraf, Gaurav Surana
Vitamin D functions as a vitamin as well as a hormone. Its major skeletal actions are complemented by varied extra-skeletal functions. During the past decade, association between Vitamin D and its role in various non-skeletal morbidities have been recognized. It plays a role in decreasing the risk of many chronic illnesses like allergies, asthma, autoimmune diseases, diabetes, cancers, infections and cardiovascular disease. We report the case of a middle aged female with chronic quadriparesis and new onset anemia associated with Vitamin D deficiency...
October 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/29318532/management-of-statin-intolerance-in-2018-still-more-questions-than-answers
#14
REVIEW
Peter P Toth, Angelo Maria Patti, Rosaria Vincenza Giglio, Dragana Nikolic, Giuseppa Castellino, Manfredi Rizzo, Maciej Banach
Statin therapy is generally well tolerated and very effective in the prevention and treatment of cardiovascular disease, regardless of cholesterol levels; however, it can be associated with various adverse events (myalgia, myopathy, rhabdomyolysis, and diabetes mellitus, among others). Patients frequently discontinue statin therapy without medical advice because of perceived side effects and consequently increase their risk for cardiovascular events. In patients with statin intolerance, it may be advisable to change the dose, switch to a different statin, or try an alternate-day regimen...
January 9, 2018: American Journal of Cardiovascular Drugs: Drugs, Devices, and Other Interventions
https://www.readbyqxmd.com/read/29317406/response-to-performance-of-the-2017-european-league-against-rheumatism-american-college-of-rheumatology-classification-criteria-for-adult-and-juvenile-idiopathic-inflammatory-myopathies-in-clinical-practice-by-ho%C3%A4-evar-et-al
#15
https://www.readbyqxmd.com/read/29314762/opportunistic-infections-in-patients-with-idiopathic-inflammatory-myopathies
#16
Ada Redondo-Benito, Adrian Curran, Ana Villar-Gomez, Ernesto Trallero-Araguas, Andreu Fernández-Codina, Iago Pinal-Fernandez, Jose Ángel Rodrigo-Pendás, Albert Selva-O'Callaghan
AIM: To describe the prevalence, clinical characteristics and risk factors of opportunistic infection (OI) in a cohort of patients with inflammatory myopathies, and compare mortality rates between those with and without OIs. METHODS: In total, 204 patients from our myositis cohort were reviewed to identify patients who had experienced an OI during the period 1986-2014. The patients' clinical characteristics, treatments received, and outcomes were systematically recorded...
January 5, 2018: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/29310658/the-involvement-of-endoplasmic-reticulum-formation-and-protein-synthesis-efficiency-in-vcp-and-atl1-related-neurological-disorders
#17
REVIEW
Yu-Tzu Shih, Yi-Ping Hsueh
The endoplasmic reticulum (ER) is the biggest organelle in cells and is involved in versatile cellular processes. Formation and maintenance of ER morphology are regulated by a series of proteins controlling membrane fusion and curvature. At least six different ER morphology regulators have been demonstrated to be involved in neurological disorders-including Valosin-containing protein (VCP), Atlastin-1 (ATL1), Spastin (SPAST), Reticulon 2 (RTN2), Receptor expression enhancing protein 1 (REEP1) and RAB10-suggesting a critical role of ER formation in neuronal activity and function...
January 8, 2018: Journal of Biomedical Science
https://www.readbyqxmd.com/read/29310344/polymyositis-with-elevated-serum-igg4-levels-and-abundant-igg4-plasma-cell-infiltration-a-case-report-and-literature-review
#18
Ryusuke Anan, Mitsuhiro Akiyama, Yuko Kaneko, Jun Kikuchi, Kazuko Suzuki, Shiro Matsubara, Tsutomu Takeuchi
INTRODUCTION: Polymyositis (PM) is a type of autoimmune, inflammatory myopathy. IgG4-related disease (IgG4-RD) is a recently recognized disease entity characterized by elevated serum IgG4 levels and IgG4 plasma-cell infiltration of various organs. However, several reports have described cases of other diseases that present with those features, suggesting the importance of careful differential diagnosis. Herein, we report the first case of PM with elevated serum IgG4 levels and IgG4 plasma cells in the muscles, mimicking IgG4-RD...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29307446/gne-myopathy-caused-by-a-synonymous-mutation-leading-to-aberrant-mrna-splicing
#19
Wenhua Zhu, Masaki Eto, Satomi Mitsuhashi, Kazushiro Takata, Goichi Beck, Hisae Sumi-Akamaru, Hideki Mochizuki, Saburo Sakoda, Masanori P Takahashi, Ichizo Nishino
GNE myopathy is a rare autosomal recessive myopathy caused by bi-allelic mutations in GNE. We report the case of a 36-year-old man who presented with typical clinical and pathological features of GNE myopathy including distal dominant muscle weakness from the age of 29 and numerous rimmed vacuoles on muscle biopsy. Targeted next-generation sequencing revealed a novel synonymous mutation, c.1500A>G (p.G500=), together with a common Japanese mutation c.620A>T (p.D207V). The cDNA analysis of the biopsied muscle revealed that this synonymous mutation creates a cryptic splice donor site that causes aberrant splicing...
November 22, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29307280/myogenic-regulatory-factors-the-orchestrators-of-myogenesis-after-30-years-of-discovery
#20
Hasan A Asfour, Mohammed Z Allouh, Raed S Said
Prenatal and postnatal myogenesis share many cellular and molecular aspects. Myogenic regulatory factors are basic Helix-Loop-Helix transcription factors that indispensably regulate both processes. These factors (Myf5, MyoD, Myogenin, and MRF4) function as an orchestrating cascade, with some overlapped actions. Prenatally, myogenic regulatory factors are restrictedly expressed in somite-derived myogenic progenitor cells and their derived myoblasts. Postnatally, myogenic regulatory factors are important in regulating the myogenesis process via satellite cells...
January 1, 2018: Experimental Biology and Medicine
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