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myopathy .muscle diseases

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https://www.readbyqxmd.com/read/28524083/idiopathic-inflammatory-myopathies-a-review-of-the-classification-and-impact-of-pathogenesis
#1
REVIEW
Dana E Mandel, Charles J Malemud, Ali D Askari
Idiopathic inflammatory myopathies (IIMs) are a group of autoimmune muscle diseases with significant morbidity and mortality. This review details and updates the pathogenesis and emerging importance of myositis-specific antibodies in the development of IIMs. An increase in the understanding of how these myositis-specific antibodies play a role in IIMs has led to the further categorization of IIMs from the traditional polymyositis versus dermatomyositis, to additional subcategories of IIMs such as necrotizing autoimmune myositis (NAM)...
May 18, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28523201/sarcoidosis-is-it-a-possible-trigger-of-inclusion-body-myositis
#2
Ali Zakaria, Issam Turk, Kenneth Leung, Ana Capatina-Rata, Waseem Farra
Sarcoidosis is a multisystem disorder of unknown etiology, characterized pathologically by the presence of nonnecrotizing granulomatous inflammation in affected organs. Although skeletal muscle is involved in 50-80 percent of individuals with sarcoidosis, symptomatic myopathy has been shown to be a rare manifestation of the disease. Inclusion body myositis (IBM) is a rare acquired idiopathic inflammatory myopathy with the insidious onset of asymmetric and distal muscle weakness that characteristically involves the quadriceps, tibialis anterior, and forearm flexors...
2017: Case Reports in Rheumatology
https://www.readbyqxmd.com/read/28513458/cofilin-a-protein-controlling-dynamics-of-actin-filaments
#3
Zofia Ostrowska, Joanna Moraczewska
Cofilins are evolutionary conserved proteins present in all Eukaryotic cells. Their primary function is dynamic reorganization of actin cytoskeleton. Two cofilin isoforms are known: cofilin 1, present in all studied non-muscle cells and in embryonic muscle cells, and cofilin 2, which dominates in mature skeletal and cardiac muscles. Polypeptide chains of both isoforms fold into a structure homological to a conservative ADF (actin depolymerizing factor) domain, which is characteristic of actin depolymerizing factor...
May 5, 2017: Postȩpy Higieny i Medycyny Doświadczalnej
https://www.readbyqxmd.com/read/28513170/a-phospholipid-biomimetic-fluorescent-mitochondrial-probe-with-ultrahigh-selectivity-enables-in-situ-and-high-fidelity-tissue-imaging
#4
Ruoyao Zhang, Yuming Sun, Minggang Tian, Ge Zhang, Ruiqing Feng, Xuechen Li, Lifang Guo, Xiaoqiang Yu, Jing Zhi Sun, Xiuquan He
In-situ and directly imaging mitochondria in tissues instead of isolated cells can offer more native and accurate information. Particularly, in the clinical diagnose of mitochondrial diseases such as mitochondrial myopathy, it is a routine examination item to directly observe mitochondrial morphology and number in muscle tissues from patients. However, it's still a challenging task because the selectivity of available probes is inadequate for exclusively tissue imaging. Inspired by the chemical structure of amphiphilic phospholipids in mitochondrial inner membrane, we synthesized a phospholipid-biomimetic amphiphilic fluorescent probe (Mito-MOI) by modifying a C18-alkyl chain to the lipophilic side of carbazole-indolenine cation...
May 17, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28508608/myopathy-in-pediatric-thyroid-states-a-review-of-the-literature
#5
Elena Dingle, Resmy Palliyil-Gopi, Maria Contreras, Brenda Kohn, Preneet Cheema Brar
This review highlights the presentations of myopathy in children in both hypothyroid and hyperthyroid states with an emphasis on the pathophysiology, diagnosis and treatment. Based on our review of the literature data, myopathy should be considered in all children presenting with muscular weakness or altered muscle enzymes in the context of thyroid disease.
December 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28505249/sialic-acid-deficiency-is-associated-with-oxidative-stress-leading-to-muscle-atrophy-and-weakness-in-the-gne-myopathy
#6
Anna Cho, May Christine V Malicdan, Miho Miyakawa, Ikuya Nonaka, Ichizo Nishino, Satoru Noguchi
Sialic acids are monosaccharides found in terminal sugar chains of cell surfaces and proteins; they have various biological functions and have been implicated in health and disease. Genetic defects of the GNE gene which encodes a critical bifunctional enzyme for sialic acid biosynthesis, lead to GNE myopathy, a disease manifesting with progressive muscle atrophy and weakness. The likely mechanism of disease is a lack of sialic acids. There remains, however, an unexplained link between hyposialylation and the muscle atrophy and weakness...
May 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28503705/mri-in-neutral-lipid-storage-disease-nlsd
#7
Matteo Garibaldi, Giorgio Tasca, Jordi Diaz-Manera, Pierfancesco Ottaviani, Francesco Laschena, Donatella Pantoli, Simonetta Gerevini, Chiara Fiorillo, Lorenzo Maggi, Elisabetta Tasca, Adele D'Amico, Olimpia Musumeci, Antonio Toscano, Claudio Bruno, Roberto Massa, Corrado Angelini, Enrico Bertini, Giovanni Antonini, Elena Maria Pennisi
Neutral lipid storage disease (NLSD) is a rare inherited disorder of lipid metabolism resulting in lipid droplets accumulation in different tissues. Skeletal muscle could be affected in both two different form of disease: NLSD with myopathy (NLSD-M) and NLSD with ichthyosis (NLSD-I). We present the muscle imaging data of 12 patients from the Italian Network for NLSD: ten patients presenting NLSD-M and two patients with NLSD-I. In NLSD-M gluteus minimus, semimembranosus, soleus and gastrocnemius medialis in the lower limbs and infraspinatus in the upper limbs were the most affected muscles...
May 13, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28499500/ca-2-release-channels-join-the-resolution-revolution
#8
REVIEW
Ran Zalk, Andrew R Marks
Ryanodine receptors (RyRs) are calcium release channels expressed in the sarcoendoplasmic reticula of many cell types including cardiac and skeletal muscle cells. In recent years Ca(2+) leak through RyRs has been implicated as a major contributor to the development of diseases including heart failure, muscle myopathies, Alzheimer's disease, and diabetes, making it an important therapeutic target. Recent mammalian RyR1 cryoelectron microscopy (cryo-EM) structures of multiple functional states have clarified longstanding questions including the architecture of the transmembrane (TM) pore and cytoplasmic domains, the location and architecture of the channel gate, ligand-binding sites, and the gating mechanism...
May 9, 2017: Trends in Biochemical Sciences
https://www.readbyqxmd.com/read/28498977/consequences-of-megf10-deficiency-on-myoblast-function-and-notch1-interactions
#9
Madhurima Saha, Satomi Mitsuhashi, Michael D Jones, Kelsey Manko, Hemakumar M Reddy, Christine Bruels, Kyung-Ah Cho, Christina A Pacak, Isabelle Draper, Peter B Kang
Mutations in MEGF10 cause early onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD), a rare congenital muscle disease, but the pathogenic mechanisms remain largely unknown. We demonstrate that short hairpin RNA (shRNA)-mediated knockdown of Megf10, as well as overexpression of the pathogenic human p.C774R mutation, leads to impaired proliferation and migration of C2C12 cells. Myoblasts from Megf10-/- mice and Megf10-/-/mdx double knockout (dko) mice also show impaired proliferation and migration compared to myoblasts from wild type and mdx mice, whereas the dko mice show histological abnormalities that are not observed in either single mutant mouse...
May 11, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28493373/the-novel-%C3%AE-b-crystallin-cryab-mutation-p-d109g-causes-restrictive-cardiomyopathy
#10
Andreas Brodehl, Anna Gaertner-Rommel, Bärbel Klauke, Simon Andre Grewe, Ilona Schirmer, Andreas Peterschröder, Lothar Faber, Matthias Vorgerd, Jan Gummert, Dario Anselmetti, Uwe Schulz, Lech Paluszkiewicz, Hendrik Milting
Restrictive cardiomyopathy (RCM) is a rare heart disease characterized by diastolic dysfunction and atrial enlargement. The genetic etiology of RCM is not completely known. We identified by a next-generation sequencing panel the novel CRYAB missense mutation c.326A>G, p.D109G in a small family with RCM in combination with skeletal myopathy with an early onset of the disease. CRYAB encodes αB-Crystallin, a member of the small heat shock protein family, which is highly expressed in cardiac and skeletal muscle...
May 11, 2017: Human Mutation
https://www.readbyqxmd.com/read/28490439/skeletal-muscle-metabolism-during-prolonged-exercise-in-pompe-disease
#11
Nicolai Preisler, Pascal Laforet, Karen Lindhardt Madsen, Edith Husu, Christoffer Vissing, Gitte Hedermann, Henrik Galbo, Christopher Lindberg, John Vissing
OBJECTIVE: Pompe disease (glycogenosis type II) is caused by lysosomal alpha-glucosidase deficiency, which leads to a block in intra-lysosomal glycogen breakdown. In spite of enzyme replacement therapy, Pompe disease continues to be a progressive metabolic myopathy. Considering the health benefits of exercise, it is important in Pompe disease to acquire more information about muscle substrate use during exercise. METHODS: Seven adults with Pompe disease were matched to a healthy control group (1:1)...
May 10, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28490364/sporadic-late-onset-nemaline-myopathy-clinico-pathological-characteristics-and-review-of-76-cases
#12
REVIEW
Lukas J Schnitzler, Tobias Schreckenbach, Aleksandra Nadaj-Pakleza, Werner Stenzel, Elisabeth J Rushing, Philip Van Damme, Andreas Ferbert, Susanne Petri, Christian Hartmann, Antje Bornemann, Andreas Meisel, Jens A Petersen, Thomas Tousseyn, Dietmar R Thal, Jens Reimann, Peter De Jonghe, Jean-Jacques Martin, Peter Y Van den Bergh, Jörg B Schulz, Joachim Weis, Kristl G Claeys
BACKGROUND: Sporadic late-onset nemaline myopathy (SLONM) is a rare, late-onset muscle disorder, characterized by the presence of nemaline rods in muscle fibers. Phenotypic characterization in a large cohort and a comprehensive overview of SLONM are lacking. METHODS: We studied the clinico-pathological features, treatment and outcome in a large cohort of 76 patients with SLONM, comprising 10 new patients and 66 cases derived from a literature meta-analysis (PubMed, 1966-2016), and compared these with 15 reported HIV-associated nemaline myopathy (HIV-NM) cases...
May 11, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28489755/kennedy-disease-with-difficulty-in-differential-diagnosis-a-case-report
#13
Yating Chen, Peng Luo, Zhongli Li, Hengping Hu, Duobin Wu, Tingting Xu, Xingzuo Wang, Haiting Xie
RATIONALE: Kennedy disease (KD) is also known as spinal bulbar muscular dystrophy. As KD has similar symptoms with most neuromuscular diseases, so it is difficult to make a rapid diagnosis clinically. PATIENT CONCERNS: We report a case of a 43-year-old male with progressive limb proximal weakness without family history. Physical examination showed gynecomastia, erectile dysfunction, bilateral tendon reflex and quadriceps weakness, and tongue muscle atrophy. DIAGNOSES: Laboratory examination found increased creatine kinase, impaired glucose tolerance, and abnormal lactic acid values...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28488683/progressive-hereditary-spastic-paraplegia-caused-by-a-homozygous-ky-mutation
#14
Yuval Yogev, Yonatan Perez, Iris Noyman, Anwar Abu Madegem, Hagit Flusser, Zamir Shorer, Eugene Cohen, Leonid Kachko, Analia Michaelovsky, Ruth Birk, Arie Koifman, Max Drabkin, Ohad Wormser, Daniel Halperin, Rotem Kadir, Ohad S Birk
Twelve individuals of consanguineous Bedouin kindred presented with autosomal recessive progressive spastic paraplegia evident as of age 0-24 months, with spasticity of lower limbs, hyperreflexia, toe walking and equinus deformity. Kyphoscolisois was evident in older patients. Most had atrophy of the lateral aspects of the tongue and few had intellectual disability. Nerve conduction velocity, electromyography and head and spinal cord magnetic resonance imaging were normal in tested subjects. Muscle biopsy showed occasional central nuclei and fiber size variability with small angular fibers...
May 10, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28488343/master-and-commander-foxo-s-role-in-muscle-atrophy
#15
H T Langer
Skeletal muscle atrophy is a primary clinical symptom associated with many diseases such as cachexia, sarcopenia, diabetes, neurodegenerative disorders and myopathies. This article is protected by copyright. All rights reserved.
May 10, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28488045/-musculoskeletal-manifestations-of-sarcoidosis
#16
REVIEW
P Korsten, G Chehab
Musculoskeletal manifestations in the context of sarcoidosis are frequently observed. The rheumatologist regularly encounters this disease in clinical practice. In the present review, we aim to give a current overview of the manifestations and treatments relevant to the practicing rheumatologist. The most frequently encountered manifestation is Lofgren's syndrome, which is characterized by bilateral ankle periarthritis, bilateral hilar lymphadenopathy, and erythema nodosum and has an excellent prognosis. Chronic arthropathy most commonly manifests as oligoarthritis, which sometimes hampers its differentiation from spondylarthropathies, especially when sacroiliitis, enthesitis or dactylitis are simultaneously present...
May 9, 2017: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/28479486/integrated-diagnosis-project-for-inflammatory-myopathies-an-association-between-autoantibodies-and-muscle-pathology
#17
REVIEW
Shigeaki Suzuki, Akinori Uruha, Norihiro Suzuki, Ichizo Nishino
Inflammatory myopathies are a heterogeneous group of immune-mediated diseases that involve skeletal muscle as well as many other organs. The classification of inflammatory myopathies has been based on clinical diagnoses, pathological diagnoses, and autoantibodies, independently. The clinical phenotypes of inflammatory myopathies are characterized by various autoantibodies that are originally detected by RNA or protein immunoprecipitation. However, since the correlation between histological features and autoantibodies had not been fully elucidated, we created the "Integrated Diagnosis Project for Inflammatory Myopathies" in October 2010...
May 4, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28473226/kennedy-disease-x-linked-recessive-bulbospinal-neuronopathy-a-comprehensive-review-from-pathophysiology-to-therapy
#18
REVIEW
G Querin, G Sorarù, P-F Pradat
Kennedy's disease, also known as spinal and bulbar muscular atrophy (SBMA), is a rare, adult-onset, X-linked recessive neuromuscular disease caused by expansion of a CAG repeat sequence in exon 1 of the androgen receptor gene (AR) encoding a polyglutamine (polyQ) tract. The polyQ-expanded AR accumulates in nuclei, and initiates degeneration and loss of motor neurons and dorsal root ganglia. While the disease has long been considered a pure lower motor neuron disease, recently, the presence of major hyper-creatine-kinase (CK)-emia and myopathic alterations on muscle biopsy has suggested the presence of a primary myopathy underlying a wide range of clinical manifestations...
May 1, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28473041/diagnosis-and-management-of-immune-mediated-myopathies
#19
REVIEW
Margherita Milone
Immune-mediated myopathies (IMMs) are a heterogeneous group of acquired muscle disorders characterized by muscle weakness, elevated creatine kinase levels, and myopathic electromyographic findings. Most IMMs feature the presence of inflammatory infiltrates in muscle. However, the inflammatory exudate may be absent. Indeed, necrotizing autoimmune myopathy (NAM), also called immune-mediated necrotizing myopathy, is characterized by a necrotizing pathologic process with no or minimal inflammation in muscle. The recent discovery of antibodies associated with specific subtypes of autoimmune myopathies has played a major role in characterizing these diseases...
May 2017: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/28469499/a-case-of-statin-associated-autoimmune-myopathy
#20
Alexander J Sweidan, Anthony Leung, Cassandra J Kaiser, Sarah J Strube, Andrei N Dokukin, Stephen Romansky, Sassan Farjami
A 70-year-old previously independent man developed progressive proximal leg weakness resulting in a fall at home suffering traumatic brain injury. He was prescribed a statin medication two years prior, but this was discontinued on admission to the hospital due to concern for statin myopathy. His weakness continued to progress while in acute rehabilitation, along with the development of dysphagia requiring placement of gastrostomy tube and respiratory failure requiring tracheostomy. Corticosteroids and intravenous immunoglobulin were administered without response...
2017: Clinical Medicine Insights. Case Reports
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