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https://www.readbyqxmd.com/read/29154752/idiopathic-inflammatory-myopathies-overlapping-with-systemic-diseases
#1
Sébastien Lepreux, Johannes A Hainfellner, Anne Vital
A muscle biopsy is currently requested to assess the diagnosis of an idiopathic inflammatory myopathy overlapping with a systemic disease. During the past few years, the classification of inflammatory myopathy subtypes has been revisited progressively on the basis of correlations between clinical phenotypes, autoantibodies and histological data. Several syndromic entities are now more clearly defined, and the aim of the present review is to clarify the contribution of muscle biopsy in a setting of idiopathic inflammatory myopathies overlapping with systemic diseases...
November 20, 2017: Clinical Neuropathology
https://www.readbyqxmd.com/read/29152331/cost-effectiveness-of-massively-parallel-sequencing-for-diagnosis-of-paediatric-muscle-diseases
#2
Deborah Schofield, Khurshid Alam, Lyndal Douglas, Rupendra Shrestha, Daniel G MacArthur, Mark Davis, Nigel G Laing, Nigel F Clarke, Joshua Burns, Sandra T Cooper, Kathryn N North, Sarah A Sandaradura, Gina L O'Grady
Childhood-onset muscle disorders are genetically heterogeneous. Diagnostic workup has traditionally included muscle biopsy, protein-based studies of muscle specimens, and candidate gene sequencing. High throughput or massively parallel sequencing is transforming the approach to diagnosis of rare diseases; however, evidence for cost-effectiveness is lacking. Patients presenting with suspected congenital muscular dystrophy or nemaline myopathy were ascertained over a 15-year period. Patients were investigated using traditional diagnostic approaches...
2017: NPJ Genomic Medicine
https://www.readbyqxmd.com/read/29151520/dropped-head-syndrome-and-the-presence-of-rimmed-vacuoles-in-a-muscle-biopsy-in-scleroderma-polymyositis-overlap-syndrome-associated-with-anti-ku-antibody
#3
Yoshida Takeshi, Yoshida Mai, Mitsuyo Kinjo, Jonosono Manabu, Higuchi Itsuro
A 66-year-old woman with a history of interstitial lung disease presented with a 3-month history of dropped head syndrome (DHS), followed by camptocormia and extremity weakness. A clinical examination revealed Raynaud phenomenon, arthralgia, distal skin sclerosis, and microbleeds in the nailfold capillaries. An anti-Ku antibody test was positive. A muscle biopsy revealed inflammatory myopathy with rimmed vacuoles (RVs). The diagnosis of scleroderma-polymyositis (SSc-PM) overlap syndrome was made. RVs on a muscle biopsy in a patient with inflammatory myositis involving axial muscles may be seen either in inclusion body myositis or SSc-PM overlap syndrome...
November 20, 2017: Internal Medicine
https://www.readbyqxmd.com/read/29149920/gastrointestinal-and-hepatic-disease-in-the-inflammatory-myopathies
#4
REVIEW
Chiranjeevi Gadiparthi, Amneet Hans, Kyle Potts, Mohammad K Ismail
Although muscle weakness is the pathognomonic feature of idiopathic inflammatory myopathies, systemic organ involvement is not uncommon. The gastrointestinal and hepatic manifestations are well known. Oropharyngeal dysphagia is the most common gastrointestinal symptom and can be severe. Gastric and small intestinal motility disorders, including chronic intestinal pseudo-obstruction, celiac disease, and inflammatory bowel disease have been described. Comprehensive cancer screening is warranted soon after the diagnosis of inflammatory myopathies due to high risk of occult malignancies...
February 2018: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/29143313/polyglucosan-myopathy-and-functional-characterization-of-a-novel-gyg1-mutation
#5
C Hedberg-Oldfors, A Mensch, K Visuttijai, G Stoltenburg, D Stoevesandt, T Kraya, A Oldfors, S Zierz
OBJECTIVES: Disorders of glycogen metabolism include rare hereditary muscle glycogen storage diseases with polyglucosan, which are characterized by storage of abnormally structured glycogen in muscle in addition to exercise intolerance or muscle weakness. In this study, we investigated the etiology and pathogenesis of a late-onset myopathy associated with glycogenin-1 deficiency. MATERIALS AND METHODS: A family with two affected siblings, 64- and 66-year-olds, was studied...
November 15, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/29143179/diagnostic-work-up-in-steroid-myopathy
#6
REVIEW
Marco Alessandro Minetto, Valentina D'Angelo, Emanuela Arvat, Santosh Kesari
INTRODUCTION: Steroid myopathy is a well-known sign of endogenous Cushing's syndrome as well as a side effect of glucocorticoid administration. The clinical finding of muscle weakness and the clinical inspection of the muscle size are the most commonly used diagnostic tools, sometimes in combination with needle electromyography, but there are no means to detect the myopathy before the appearance of clinical or electrodiagnostic signs. Until now, no guidelines have been produced for a disease-specific evaluation of muscle impairment in patients with Cushing's syndrome...
November 15, 2017: Endocrine
https://www.readbyqxmd.com/read/29139300/development-and-preliminary-evidence-of-the-psychometric-properties-of-the-gne-myopathy-functional-activity-scale
#7
Jill Mayhew, Nicola Bonner, Rob Arbuckle, Alice Turnbull, Alexandra Bowden, Alison Skrinar
AIM: GNE myopathy, a rare, severe, progressive myopathy, presents with lower extremity distal muscle weakness. The GNE myopathy functional activity scale (GNEM-FAS) evaluates the impact of GNE myopathy on functioning in adults. This paper presents the psychometric validation of the GNEM-FAS. PATIENTS & METHODS: Validation of the GNEM-FAS was performed using data from a randomized, double-blind, placebo-controlled Phase-II study (n = 46). RESULTS: Domain score distributions were acceptable...
November 15, 2017: Journal of Comparative Effectiveness Research
https://www.readbyqxmd.com/read/29130937/amphiphysin-bin1-negatively-regulates-dynamin-2-for-normal-muscle-maturation
#8
Belinda S Cowling, Ivana Prokic, Hichem Tasfaout, Aymen Rabai, Frédéric Humbert, Bruno Rinaldi, Anne-Sophie Nicot, Christine Kretz, Sylvie Friant, Aurélien Roux, Jocelyn Laporte
Regulation of skeletal muscle development and organization is a complex process that is not fully understood. Here, we focused on amphiphysin 2 (BIN1, also known as bridging integrator-1) and dynamin 2 (DNM2), two ubiquitous proteins implicated in membrane remodeling and mutated in centronuclear myopathies (CNMs). We generated Bin1-/- Dnm2+/- mice to decipher the physiological interplay between BIN1 and DNM2. While Bin1-/- mice die perinatally from a skeletal muscle defect, Bin1-/- Dnm2+/- mice survived at least 18 months, and had normal muscle force and intracellular organization of muscle fibers, supporting BIN1 as a negative regulator of DNM2...
November 13, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29128256/megf10-related-myopathies-a-new-case-with-adult-onset-disease-with-prominent-respiratory-failure-and-review-of-reported-phenotypes
#9
Elizabeth Harris, Chiara Marini-Bettolo, Ana Töpf, Rita Barresi, Tuomo Polvikovski, Geraldine Bailey, Richard Charlton, James Tellez, Daniel MacArthur, Michela Guglieri, Hanns Lochmüller, Kate Bushby, Volker Straub
Recessive mutations in MEGF10 (multiple epidermal growth factor 10) have been reported in a severe early onset disorder named Early Myopathy, Areflexia, Respiratory Distress and Dysphagia, and a milder form with cores in the muscle biopsy; and a possible genotype-phenotype correlation determining the clinical presentation has been suggested. We undertook exome sequencing in a 66 year old male with a 20 year history of progressive proximal and distal weakness of upper and lower limbs, facial weakness and dysphagia, who developed respiratory failure requiring ventilation while still ambulant in his 50s...
October 12, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29125502/congenital-myasthenic-syndromes-or%C3%A2-inherited-disorders-of-neuromuscular-transmission-recent-discoveries-and%C3%A2-open%C3%A2-questions
#10
Sophie Nicole, Yoshiteru Azuma, Stéphanie Bauché, Bruno Eymard, Hanns Lochmüller, Clarke Slater
Congenital myasthenic syndromes (CMS) form a heterogeneous group of rare diseases characterized by fatigable muscle weakness. They are genetically-inherited and caused by defective synaptic transmission at the cholinergic neuromuscular junction (NMJ). The number of genes known to cause CMS when mutated is currently 30, and the relationship between fatigable muscle weakness and defective functions is quite well-understood for many of them. However, some of the most recent discoveries in individuals with CMS challenge our knowledge of the NMJ, where the basis of the pathology has mostly been investigated in animal models...
November 8, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29122469/sensitivity-of-whole-exome-sequencing-in-detecting-infantile-and-late-onset-pompe-disease
#11
Mari Mori, Gloria Haskell, Zoheb Kazi, Xiaolin Zhu, Stephanie M DeArmey, Jennifer L Goldstein, Deeksha Bali, Catherine Rehder, Elizabeth T Cirulli, Priya S Kishnani
Pompe disease is a metabolic myopathy with a wide spectrum of clinical presentation. The gold-standard diagnostic test is acid alpha-glucosidase assay on skin fibroblasts, muscle or blood. Identification of two GAA pathogenic variants in-trans is confirmatory. Optimal effectiveness of enzyme replacement therapy hinges on early diagnosis, which is challenging in late-onset form of the disease due to non-specific presentation. Next-generation sequencing-based panels effectively facilitate diagnosis, but the sensitivity of whole-exome sequencing (WES) in detecting pathogenic GAA variants remains unknown...
October 17, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29118420/aav-mediated-transcription-factor-eb-tfeb-gene-delivery-ameliorates-muscle-pathology-and-function-in-the-murine-model-of-pompe-disease
#12
Francesca Gatto, Barbara Rossi, Antonietta Tarallo, Elena Polishchuk, Roman Polishchuk, Alessandra Carrella, Edoardo Nusco, Filomena Grazia Alvino, Francesca Iacobellis, Elvira De Leonibus, Alberto Auricchio, Graciana Diez-Roux, Andrea Ballabio, Giancarlo Parenti
Pompe disease (PD) is a metabolic myopathy due to acid alpha-glucosidase deficiency and characterized by extensive glycogen storage and impaired autophagy. We previously showed that modulation of autophagy and lysosomal exocytosis by overexpression of the transcription factor EB (TFEB) gene was effective in improving muscle pathology in PD mice injected intramuscularly with an AAV-TFEB vector. Here we have evaluated the effects of TFEB systemic delivery on muscle pathology and on functional performance, a primary measure of efficacy in a disorder like PD...
November 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29112723/in-vitro-and-in-vivo-studies-of-the-als-ftld-protein-chchd10-reveal-novel-mitochondrial-topology-and-protein-interactions
#13
S R Burstein, F Valsecchi, H Kawamata, M Bourens, R Zeng, A Zuberi, T A Milner, S M Cloonan, C Lutz, A Barrientos, G Manfredi
Mutations in coiled-coil-helix-coiled-coil-helix-domain containing 10 (CHCHD10), a mitochondrial twin CX9C protein whose function is still unknown, cause myopathy, motor neuron disease, frontotemporal dementia, and Parkinson's disease. Here, we investigate CHCHD10 topology and its protein interactome, as well as the effects of CHCHD10 depletion or expression of disease-associated mutations in wild-type cells. We find that CHCHD10 associates with membranes in the mitochondrial intermembrane space, where it interacts with a closely related protein, CHCHD2...
November 3, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29090371/cutaneous-manifestations-of-dermatomyositis-a-comprehensive-review
#14
REVIEW
Carlo Mainetti, Benedetta Terziroli Beretta-Piccoli, Carlo Selmi
Dermatomyositis (DM) is an idiopathic inflammatory myopathy characterized by the presence of skin lesions and inflammation of skeletal muscles; however, this feature may be absent in amyopathic DM. DM is a rare disease, occurring at any age, and has two peaks of incidence: one in childhood between 5 and 15 years of age and one in adulthood between 40 and 60 years, with a female preponderance. DM has been associated with malignancy; therefore, every newly diagnosed patient should undergo screening investigations, but evidence-based guidelines on their extension are lacking...
October 31, 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/29089059/effective-induction-therapy-for-anti-srp-associated-myositis-in-childhood-a-small-case-series-and-review-of-the-literature
#15
E L Binns, E Moraitis, S Maillard, S Tansley, N McHugh, T S Jacques, L R Wedderburn, C Pilkington, S A Yasin, K Nistala
BACKGROUND: Anti-Signal Recognition Particle associated myopathy is a clinically and histopathologically distinct subgroup of Juvenile Idiopathic Inflammatory Myositis, which is under-recognised in children and fails to respond to conventional first line therapies. We present three cases where remission was successfully induced using combination therapy with intensive rehabilitation. CASE PRESENTATIONS: Three new patients are reported. All 3 cases presented with profound, rapid-onset, proximal myopathy and markedly raised CK, but no rash...
October 31, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/29079705/a-novel-de-novo-dominant-mutation-in-iscu-associated-with-mitochondrial-myopathy
#16
Andrea Legati, Aurelio Reyes, Camilla Ceccatelli Berti, Oliver Stehling, Silvia Marchet, Costanza Lamperti, Alberto Ferrari, Alan J Robinson, Ulrich Mühlenhoff, Roland Lill, Massimo Zeviani, Paola Goffrini, Daniele Ghezzi
BACKGROUND: Hereditary myopathy with lactic acidosis and myopathy with deficiency of succinate dehydrogenase and aconitase are variants of a recessive disorder characterised by childhood-onset early fatigue, dyspnoea and palpitations on trivial exercise. The disease is non-progressive, but life-threatening episodes of widespread weakness, metabolic acidosis and rhabdomyolysis may occur. So far, this disease has been molecularly defined only in Swedish patients, all homozygous for a deep intronic splicing affecting mutation in ISCU encoding a scaffold protein for the assembly of iron-sulfur (Fe-S) clusters...
October 27, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29078335/structural-insights-into-binding-of-stac-proteins-to-voltage-gated-calcium-channels
#17
Siobhan M Wong King Yuen, Marta Campiglio, Ching-Chieh Tung, Bernhard E Flucher, Filip Van Petegem
Excitation-contraction (EC) coupling in skeletal muscle requires functional and mechanical coupling between L-type voltage-gated calcium channels (CaV1.1) and the ryanodine receptor (RyR1). Recently, STAC3 was identified as an essential protein for EC coupling and is part of a group of three proteins that can bind and modulate L-type voltage-gated calcium channels. Here, we report crystal structures of tandem-SH3 domains of different STAC isoforms up to 1.2-Å resolution. These form a rigid interaction through a conserved interdomain interface...
October 23, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29071728/impaired-excitation-contraction-coupling-in-muscle-fibres-from-the-dynamin2-r465w-mouse-model-of-centronuclear-myopathy
#18
Candice Kutchukian, Peter Szentesi, Bruno Allard, Delphine Trochet, Maud Beuvin, Christine Berthier, Yves Tourneur, Pascale Guicheney, Laszlo Csernoch, Marc Bitoun, Vincent Jacquemond
Mutations in the gene encoding dynamin 2 (DNM2) are responsible for autosomal dominant centronuclear myopathy (AD-CNM). We studied the functional properties of Ca(2+) signalling and excitation-contraction (EC) coupling in muscle fibres isolated from a knock-in (KI) mouse model of the disease, using confocal imaging and voltage-clamp. The transverse-tubule network organization looked unaltered in the diseased fibres but its density was reduced by ∼10% as compared to that in control fibres. The density of Ca(2+) current through CaV1...
October 26, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/29070483/research-progress-of-myosin-heavy-chain-genes-in-human-genetic-diseases
#19
Yi-Min He, Ming-Min Gu
Myosins constitute a large superfamily proteins, which convert chemical energy, through ATP hydrolysis, to mechanical force for diverse cellular movements, such as cell migration and muscle contraction. The class Ⅱ myosin forms the filaments in muscle and non-muscle cells as a hexameric protein complex, consisting of two myosin heavy chain (MyHC) subunits and two pairs of non-identical light chain subunits. There are several MyHC isoforms encoded by different genes of the MYH family in humans. At present, distinct mutations in different genes of the MYH family are associated with various human genetic diseases...
October 20, 2017: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/29067242/impact-of-vitamin-d-status-on-statin-induced-myopathy
#20
Krista D Riche, Justin Arnall, Kristin Rieser, Honey E East, Daniel M Riche
INTRODUCTION: There is a multitude of evidence supporting the benefit of statin use in cardiovascular disease; however, statin-induced myopathy is a major reason for statin discontinuation and non-adherence. Vitamin D deficiency has been independently associated with muscle weakness and severe myopathy, and may be a confounder for statin-induced myopathies. Since there is no consensus on a treatment course of action for statin-induced myopathy, investigation into potential confounders to elucidate the dynamics of statin-induced myopathy is warranted...
December 2016: Journal of Clinical & Translational Endocrinology
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