DOCSLIB.ORG

Sommaire Par Maladies / Diseases Myoglobinaopathie – Myoglobinopathy

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Sommaire Par Maladies / Diseases Myoglobinaopathie – Myoglobinopathy Veille Neuromusculaire / Neuromuscular bibliography Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2019-03-3 du 16 au 31 Mars 2019 (Mars 16 to 31, 2019) Publiée tous les 15 jours par le service de documentation de l'AFM-Téléthon, la "Veille Neuromusculaire" contient les dernières références intégrées dans Pubmed. La liste des pathologies concernées par cette veille est celle de la Fiche Technique Savoir & Comprendre "Avancées médico-scientifiques neuromusculaires" publiée par l'AFM-Téléthon et mise à jour en octobre 2012. Vous trouverez les veilles précédentes sur notre portail documentaire dédié aux maladies neuromusculaires Myobase Every two weeks, you will find in the “Neuromuscular Bibliography” the latest references published in Pubmed. The list of covered diseases comes from the October 2012 publication "Avancées médico-scientifiques neuromusculaires", Fiche technique Savoir & Comprendre published by AFM-Téléthon. Previous reports are available on Myobase, the information tool about neuromuscular diseases. Sommaire par maladies / diseases Myoglobinaopathie – Myoglobinopathy ........................................................................................................ 3 Amyotrophies bulbospinales – Bulbospinal amyotrophies ........................................................................ 4 Amyotrophie spinale proximale liée à SMN1 – SMN1-related spinal muscular atrophy (SMA) .............. 5 Canalopathies musculaires – Muscular channelopathies........................................................................... 6 Dystrophies musculaires congénitales – Congenital muscular dystrophies ........................................... 6 Collagénopathies – Collagenopathies........................................................................................................... 7 Dystrophies musculaires d’Emery-Dreifuss – Emery-Dreifuss muscular dystrophies ........................... 7 Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker – Dystrophinopathies ......................................................................................................................................... 8 Dystrophies musculaires des ceintures – Limb-girdle muscular dystrophies ....................................... 11 Dysferlinopathies – Dysferlinopathies ........................................................................................................ 11 Dystrophie musculaire facioscapulohumérale – Facioscapulohumeral muscular dystrophy (FSHD) 12 Dystrophie musculaire oculopharyngée (DMOP) – Oculopharyngeal muscular dystrophy (OPMD) ... 13 Dystrophies myotoniques – Myotonic dystrophies ................................................................................... 13 Fibrodysplasie ossifiante progressive (FOP) – Fibrodysplasia ossificans progressiva ....................... 16 Maladie de Charcot-Marie-Tooth – Charcot-Marie-Tooth disease ............................................................ 16 Myasthénie autoimmune – Myasthenia gravis ........................................................................................... 19 Myopathies congénitales – Congenital myopathies .................................................................................. 22 Myopathies distales – Distal myopathies ................................................................................................... 23 Myopathies liées à la dynamine-2 – Dynamin-2 related myopathies ....................................................... 24 Myopathies liées à SEPN1 – SEPN1-related myopathies .......................................................................... 24 Myopathies inflammatoires – Inflammatory myopathies .......................................................................... 25 Myopathies métaboliques – Metabolic myopathies ................................................................................... 31 Maladie de Pompe – Pompe disease ........................................................................................................... 33 Myopathies mitochondriales – Mitochondrial myopathies ....................................................................... 34 Myopathies myofibrillaires – Myofibrillar myopathies............................................................................... 37 Titinopathies – Titinopathies ........................................................................................................................ 37 Syndromes myasthéniques congénitaux – Congenital myasthenic syndrome ..................................... 37 Dystrophies musculaires (plusieurs pathologies) – Muscular dystrophies (Multiple) .......................... 38 AFM-Téléthon (Service Documentation) – 03/04/2019 1/50 Veille Neuromusculaire / Neuromuscular bibliography Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2019-03-3 du 16 au 31 Mars 2019 (Mars 16 to 31, 2019) Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (Multiple) ................. 38 Divers – Miscellaneous ................................................................................................................................. 40 Sommaire par spécialités / specialties Anatomopathologie – Anatomical pathology ............................................................................................. 43 Cardiologie – Cardiology .............................................................................................................................. 43 Électromyographie – Electromyography .................................................................................................... 45 Gastroentérologie / Nutrition – Gastroenterology / Nutrition ................................................................... 46 Imagerie médicale – Medical imaging ......................................................................................................... 46 Médecine physique et de réadaptation – Physical and rehabilitation medicine ..................................... 46 Nephrologie – Nephrology ............................................................................................................................ 47 Ophtalmologie – Ophthalmology ................................................................................................................. 47 Pneumologie – Pulmonogy .......................................................................................................................... 48 AFM-Téléthon (Service Documentation) – 03/04/2019 2/50 Veille Neuromusculaire / Neuromuscular bibliography Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2019-03-3 du 16 au 31 Mars 2019 (Mars 16 to 31, 2019) Myoglobinaopathie – Myoglobinopathy 1. Nat Commun. 2019 Mar 27;10(1):1396. doi: 10.1038/s41467-019-09111-2. Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions. Olivé M1, Engvall M2,3, Ravenscroft G4, Cabrera-Serrano M5, Jiao H6,7, Bortolotti CA8, Pignataro M9, Lambrughi M8, Jiang H10, Forrest ARR4, Benseny-Cases N11, Hofbauer S12, Obinger C12, Battistuzzi G9, Bellei M8, Borsari M9, Di Rocco G8, Viola HM13, Hool LC13,14, Cladera J15, Lagerstedt-Robinson K16, Xiang F17, Wredenberg A3,18, Miralles F19, Baiges JJ20, Malfatti E21,22, Romero NB21,22, Streichenberger N23, Vial C24, Claeys KG25,26, Straathof CSM27, Goris A28, Freyer C3,18, Lammens M29,30,31, Bassez G32, Kere J6,7,33,34, Clemente P18, Sejersen T17, Udd B35,36,37, Vidal N38, Ferrer I38,39, Edström L40, Wedell A2,3, Laing NG41. 1Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of Neurology, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, 08907, Spain. [email protected]. 2Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Stockholm, SE-17176, Sweden. 3Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, SE-17177, Sweden. 4Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, 6000, WA, Australia. 5Neurology Department and Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío, Seville, 41013, Spain. 6Department of Biosciences and Nutrition, Science for Life Laboratory, Karolinska Institutet, Stockholm, SE-14157, Sweden. 7Clinical Research Centre, Karolinska University Hospital, Huddinge, SE-17177, Sweden. 8Department of Life Sciences, University of Modena and Reggio Emilia, Modena, 41121, Italy. 9Department of Chemical and Geological Sciences, University of Modena and Reggio Emilia, Modena, 41121, Italy. 10School of Molecular Sciences, The University of Western Australia, 35 Stirling Highway, Crawley, 6009, WA, Australia. 11ALBA Synchrotron Light Source, Cerdanyola del Vallès, Barcelona, 08290, Spain. 12Division of Biochemistry, Department of Chemistry, Vienna Institute of BioTechnology, BOKU-University of Natural Resources and Life Sciences, Vienna, A-1180, Austria. 13School of Human Sciences, The University of Western Australia, Perth, 6000, Western Australia, Australia. 14Victor Chang Cardiac Research Institute, Darlinghurst, 2010, NSW, Australia. 15Unitat de Biofísica, Departament de Bioquímica i de Biologia Molecular, Facultat de Medicina, Universitat Autònoma de Barcelona, Bellaterra, 08193, Spain. 16Department of Molecular Medicine and Surgery, Karolinska Institutet, and
Load more

Recommended publications
  • A Acanthosis Nigricans, 139 Acquired Ichthyosis, 53, 126, 127, 159 Acute
    Index A Anti-EJ, 213, 214, 216 Acanthosis nigricans, 139 Anti-Ferc, 217 Acquired ichthyosis, 53, 126, 127, 159 Antigliadin antibodies, 336 Acute interstitial pneumonia (AIP), 79, 81 Antihistamines, 324 Adenocarcinoma, 115, 116, 151, 173 Anti-histidyl-tRNA-synthetase antibody Adenosine triphosphate (ATP), 229 (Anti-Jo-1), 6, 14, 140, 166, 183, Adhesion molecules, 225–226 213–216 Adrenal gland carcinoma, 115 Anti-histone antibodies (AHA), 174, 217 Age, 30–32, 157–159 Anti-Jo-1 antibody syndrome, 34, 129 Alanine aminotransferase (ALT, ALAT), 16, Anti-Ki-67 antibody, 247 128, 205, 207, 255 Anti-KJ antibodies, 216–217 Alanyl-tRNA synthetase, 216 Anti-KS, 82 Aldolase, 14, 16, 128, 129, 205, 207, 255, 257 Anti-Ku antibodies, 163, 165, 217 Aledronate, 325 Anti-Mas, 217 Algorithm, 256, 259 Anti-Mi-2 Allergic contact dermatitis, 261 antibody syndrome, 11, 129, 215 Alopecia, 62, 199, 290 antibodies, 6, 15, 129, 142, 212 Aluminum hydroxide, 325, 326 Anti-Myo 22/25 antibodies, 217 Alzheimer’s disease-related proteins, 190 Anti-Myosin scintigraphy, 230 Aminoacyl-tRNA synthetases, 151, 166, 182, Antineoplastic agents, 172 212, 215 Antineoplastic medicines, 169 Aminoquinolone antimalarials, 309–310, 323 Antinuclear antibody (ANA), 1, 141, 152, 171, Amyloid, 188–190 172, 174, 213, 217 Amyopathic DM, 6, 9, 29–30, 32–33, 36, 104, Anti-OJ, 213–214, 216 116, 117, 147–153 Anti-p155, 214–215 Amyotrophic lateral sclerosis, 263 Antiphospholipid syndrome (APS), 127, Antisynthetase syndrome, 11, 33–34, 81 130, 219 Anaphylaxi, 316 Anti-PL-7 antibody, 82, 214 Anasarca,
    [Show full text]
  • Muscle Biopsy Features of Idiopathic Inflammatory Myopathies And
    Autoimmun Highlights (2014) 5:77–85 DOI 10.1007/s13317-014-0062-2 REVIEW ARTICLE Muscle biopsy features of idiopathic inflammatory myopathies and differential diagnosis Gaetano Vattemi • Massimiliano Mirabella • Valeria Guglielmi • Matteo Lucchini • Giuliano Tomelleri • Anna Ghirardello • Andrea Doria Received: 1 August 2014 / Accepted: 22 August 2014 / Published online: 10 September 2014 Ó Springer International Publishing Switzerland 2014 Abstract The gold standard to characterize idiopathic Keywords Inflammatory myopathy Á Autoimmune inflammatory myopathies is the morphological, immuno- myositis Á Histopathology Á Differential diagnosis histochemical and immunopathological analysis of muscle biopsy. Mononuclear cell infiltrates and muscle fiber necrosis are commonly shared histopathological features. Introduction Inflammatory cells that surround, invade and destroy healthy muscle fibers expressing MHC class I antigen are Idiopathic inflammatory myopathies (IIM) are a heteroge- the typical pathological finding of polymyositis. Perifas- neous group of acquired muscle diseases, which have dis- cicular atrophy and microangiopathy strongly support a tinct clinical, pathological and histological features [1, 2]. diagnosis of dermatomyositis. Randomly distributed The most common IIM seen in clinical practice can be necrotic muscle fibers without mononuclear cell infiltrates separated into four categories including polymyositis (PM), represent the histopathological hallmark of immune-med- dermatomyositis (DM), immune-mediated necrotizing iated necrotizing myopathy; meanwhile, endomysial myopathy (NM) and sporadic inclusion body myositis inflammation and muscle fiber degeneration are the two (sIBM) [1, 3]. main pathological features in sporadic inclusion body In the diagnostic workup of an inflammatory myopathy, myositis. A correct differential diagnosis requires immu- muscle biopsy is an indispensable and sensitive tool for nopathological analysis of the muscle biopsy and has establishing the diagnosis.
    [Show full text]
  • Eosinophilic Fasciitis: Typical Abnormalities
    Diagnostic and Interventional Imaging (2015) 96, 341—348 REVIEW /Muskuloskeletal imaging Eosinophilic fasciitis: Typical abnormalities, variants and differential diagnosis of fasciae abnormalities using MR imaging a,∗ b,c a T. Kirchgesner , B. Dallaudière , P. Omoumi , a a a J. Malghem , B. Vande Berg , F. Lecouvet , d e a F. Houssiau , C. Galant , A. Larbi a Service de radiologie, Département d’imagerie musculo-squelettique, Cliniques Universitaires Saint-Luc, avenue Hippocrate 10-1200, Brussels, Belgium b Département d’imagerie, centre hospitalier universitaire Pellegrin, place Amélie-Léon-Rabat, 33000 Bordeaux, France c Clinique du sport de Bordeaux-Mérignac, 2, rue Négrevergne, 33700 Mérignac, France d Service de Rhumatologie, Cliniques Universitaires Saint-Luc, avenue Hippocrate 10-1200 Brussels, Belgium e Service d’anatomo-pathologie, Cliniques Universitaires Saint-Luc, avenue Hippocrate 10-1200, Brussels, Belgium KEYWORDS Abstract Eosinophilic fasciitis is a rare condition. It is generally limited to the distal parts of Fascia; the arms and legs. MRI is the ideal imaging modality for diagnosing and monitoring this condi- Fasciitis; tion. MRI findings typically evidence only fascial involvement but on a less regular basis signal Eosinophilic; abnormalities may be observed in neighboring muscle tissue and hypodermic fat. Differential Shulman; diagnosis of eosinophilic fasciitis by MRI requires the exclusion of several other superficial and MRI deep soft tissue disorders. © 2015 Éditions franc¸aises de radiologie. Published by Elsevier Masson SAS. All rights reserved. Eosinophilic fasciitis is a rare condition that was first described by Shulman in 1974 [1]. Magnetic resonance imaging (MRI) is the ideal imaging modality both for diagnosing and monitoring this condition. MRI examination typically evidences only fascial involvement but on a less regular basis signal abnormalities may be observed in neighboring muscle tissue and hypodermic fat.
    [Show full text]
  • Inclusion Body Myositis: a Case with Associated Collagen Vascular Disease Responding to Treatment
    J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.48.3.270 on 1 March 1985. Downloaded from Journal ofNeurology, Neurosurgery, and Psychiatry 1985;48:270-273 Short report Inclusion body myositis: a case with associated collagen vascular disease responding to treatment RJM LANE, JJ FULTHORPE, P HUDGSON UK From the Regional Neurological Centre, Newcastle General Hospital, Newcastle-upon-Tyne, elec- SUMMARY Patients with inclusion body myositis demonstrate characteristic histological and muscle and are generally considered refractory to treatment. tronmicroscopical abnormalities in autoimmune A patient with inclusion body myositis is described with evidence of associated disease, who responded to steroids. muscles. He felt that his legs were quite normal. He denied guest. Protected by copyright. The diagnosis of inclusion body myositis depends symptoms. There was no relevant family or of the characteristic any sensory ultimately on the demonstration drug history. dis- intracytoplasmic and intranuclear filamentous inclu- On examination, he had a prominent bluish/purple sions, and cytoplasmic vacuoles originally described colouration of the knuckles, thickening of the skin on the by Chou in 1968.' However, reviews of reported dorsum of the hands and a slight heliotrope facial rash. The features which facial muscles were slightly wasted and he had marked cases have also emphasised clinical sternomastoids, deltoids, appear to distinguish inclusion body myositis from weakness and wasting of the Prominent among spinatti, biceps and triceps, with relative preservation of other forms of polymyositis.2-7 distal muscles. All upper limb reflexes were grossly these are the lack of associated skin changes or other bulk, power and to diminished or absent.
    [Show full text]
  • NEUROLOGY NEUROSURGERY & PSYCHIATRY Editorial
    Journal ofNeurology, Neurosurgery, and Psychiatry 1991;54:285-287 285 J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.54.4.285 on 1 April 1991. Downloaded from Joural of NEUROLOGY NEUROSURGERY & PSYCHIATRY Editorial The idiopathic inflammatory myopathies and their treatment The inflammatory myopathies are the largest group of As new knowledge has accumulated over the course of acquired myopathies of adult life and may also occur in the last 10 years, it has become increasingly clear that there infancy and childhood. They have in common the presence are distinct pathological and immunological differences of inflammatory infiltrates within skeletal muscle, usually between polymyositis on the one hand and dermato- in association with muscle fibre destruction. They can be myositis on the other, though in some cases there is clearly subdivided into those which are due to known viral, an overlap between the two conditions. In polymyositis bacterial, protozoal or other microbial agents and those in there is usually scattered necrosis of single muscle fibres which no such agent can be identified and in which which appear hyalinised in the early stages and are immunological mechanisms have been implicated.' The subsequently invaded by mononuclear phagocytic cells. latter group includes polymyositis, dermatomyositis and Regenerating fibres are usually seen singly or in small inclusion body myositis. The evidence for an autoimmune groups distributed focally and randomly throughout the aetiology consists of: 1) an association with other auto- muscle. The inflammatory cell infiltrate is predominantly immune diseases; 2) serological tests which reflect an intrafascicular (endomysial) surrounding muscle fibres altered immune state; and 3) the responsiveness of rather than in the interfascicular septa, though perivascular polymyositis and dermatomyositis, if not of the inclusion infiltrates may also be found; the cellular infiltrate consists body variety, to immunotherapy.2 Polymyositis may rarely mainly of lymphocytes, plasma cells and macrophages.
    [Show full text]
  • Full Application Instructions and Review Procedure NOTE: Full Application Is by Invitation Only After Review of Pre-Application
    ORPHAN DISEASE CENTER MILLION DOLLAR BIKE RIDE PILOT GRANT PROGRAM The ODC MDBR Pilot Grant Program provides a one‐year grant to support research related to a rare disease represented in the 2020 Million Dollar Bike Ride. Number of awards and dollar amounts vary per disease based on fundraising totals by each disease team. Eligibility All individuals holding a faculty‐level appointment at an academic institution or a senior scientific position at a non-profit institution or foundation are eligible to respond to this RFA. Letter of Interest Instructions: Please visit our website to submit your Letter of Interest (LOI), which can also be found here. This one-page LOI is due no later than Friday, September 18, 2020 by 8pm (EST). Full Application Instructions and Review Procedure NOTE: Full Application is by invitation only after review of Pre-Application Proposal Due Date: Monday, October 26, 2020 no later than 8pm (EST) Full application documents are to be uploaded on our website, by invitation only. FORMAT for documents: Font and Page Margins: Use Arial typeface, a black font color, and a font size of 11 points. A symbol font may be used to insert Greek letters or special characters. Use 0.5 inch margins (top, bottom, left, and right) for all pages, including continuation pages. Print must be clear and legible; all text should be single-spaced. Header: There should be a header at the top right on all pages of the PDF indicating the full name of the PI (e.g., PI: Smith, John D.). For your convenience, a continuation page template is included at the end of the application document.
    [Show full text]
  • Myositis 101
    MYOSITIS 101 Your guide to understanding myositis Patients who are informed, who seek out other patients, and who develop helpful ways of communicating with their doctors have better outcomes. Because the disease is so rare, TMA seeks to provide as much information as possible to myositis patients so they can understand the challenges of their disease as well as the options for treating it. The opinions expressed in this publication are not necessarily those of The Myositis Association. We do not endorse any product or treatment we report. We ask that you always check any treatment with your physician. Copyright 2012 by TMA, Inc. TABLE OF CONTENTS contents Myositis basics ...........................................................1 Diagnosis ....................................................................5 Blood tests .............................................................. 11 Common questions ................................................. 15 Treatment ................................................................ 19 Disease management.............................................. 25 Be an informed patient ............................................ 29 Glossary of terms .................................................... 33 1 MYOSITIS BASICS “Myositis” means general inflammation or swelling of the muscle. There are many causes: infection, muscle injury from medications, inherited diseases, disorders of electrolyte levels, and thyroid disease. Exercise can cause temporary muscle inflammation that improves after rest. myositis
    [Show full text]
  • View a Copy of This Licence, Visit Iveco​ Mmons.​ Org/​ Licen​ Ses/​ By/4.​ 0/​
    Leyens et al. Orphanet J Rare Dis (2021) 16:326 https://doi.org/10.1186/s13023-021-01945-8 RESEARCH Open Access The combined prevalence of classifed rare rheumatic diseases is almost double that of ankylosing spondylitis Judith Leyens1,2, Tim Th. A. Bender1,3, Martin Mücke1, Christiane Stieber4, Dmitrij Kravchenko1,5, Christian Dernbach6 and Matthias F. Seidel7* Abstract Background: Rare diseases (RDs) afect less than 5/10,000 people in Europe and fewer than 200,000 individuals in the United States. In rheumatology, RDs are heterogeneous and lack systemic classifcation. Clinical courses involve a variety of diverse symptoms, and patients may be misdiagnosed and not receive appropriate treatment. The objec- tive of this study was to identify and classify some of the most important RDs in rheumatology. We also attempted to determine their combined prevalence to more precisely defne this area of rheumatology and increase awareness of RDs in healthcare systems. We conducted a comprehensive literature search and analyzed each disease for the speci- fed criteria, such as clinical symptoms, treatment regimens, prognoses, and point prevalences. If no epidemiological data were available, we estimated the prevalence as 1/1,000,000. The total point prevalence for all RDs in rheumatol- ogy was estimated as the sum of the individually determined prevalences. Results: A total of 76 syndromes and diseases were identifed, including vasculitis/vasculopathy (n 15), arthritis/ arthropathy (n 11), autoinfammatory syndromes (n 11), myositis (n 9), bone disorders (n 11),= connective tissue diseases =(n 8), overgrowth syndromes (n 3), =and others (n 8).= Out of the 76 diseases,= 61 (80%) are clas- sifed as chronic, with= a remitting-relapsing course= in 27 cases (35%)= upon adequate treatment.
    [Show full text]
  • 14.30 Dr Hector Chinoy
    Recent advances in myositis Dr Hector Chinoy PhD FRCP @drhectorchinoy Senior Lecturer / Honorary Consultant Rheumatologist Salford Royal NHS Foundation Trust Manchester Academic Health Science Centre The University of Manchester, UK Planned Layout what is myositis? how do we classify myositis? myositis disease spectrum antibodies case presentations how do we assess and treat myositis? Planned Layout what is myositis? how do we classify myositis? myositis disease spectrum antibodies case presentations how do we assess and treat myositis? Idiopathic inflammatory myopathy (IIM): A heterogeneous group of rare autoimmune muscle disorders Rare disease, annual Different IIM subtypes with incidence 5-10/million commonality of myositis 2 peaks of onset: Extra - muscular features (5-15 years) eg skin, lung, cardiac, (30-50 years) malignancy Patterns of disease Lack of evidence base for (rule of 1/3’s): treatment Monogenic Steroid & immunoresponsive Relapsing/remitting Treatment phases: induction/maintenance of remission Chronic persistent How do patients’ present with inflammatory myopathy? Insidious onset of proximal weakness Myalgia Fatigue Dysphagia Dyspnoea Weight loss Skin abnormalities (including ulceration) Raynaud’s Dry, cracked hands Arthralgia/arthritis Creatine Features of Myositis ATP ATP Creatine Kinase + ADP ADP + H Creatine phosphate Clues on bloods Low creatinine High ferritin High ALT Raised Troponin T Negative ANA Many causes of raised CK! 1. Muscle trauma a) Muscle injury / Needle stick b) EMG c) Surgery d) Convulsions, delirium tremens 2. Diseases affecting muscle a) Myocardial infarction f) Dystrophinopathies b) Rhabdomyolysis h) Amyotrophic lateral sclerosis g) Infectious myositis i) Neuromyotonias c) Metabolic myopathies h) Idiopathic inflammatory d) Carnitine palmityltransferase myopathy II deficiency e) Mitochondrial myopathies 3.
    [Show full text]
  • Genetic Investigations of Sporadic Inclusion Body Myositis and Myopathies with Structural Abnormalities and Protein Aggregates in Muscle
    Genetic Investigations of Sporadic Inclusion Body Myositis and Myopathies with Structural Abnormalities and Protein Aggregates in Muscle Qiang Gang MRC Centre for Neuromuscular Diseases and UCL Institute of Neurology Supervised by Professor Henry Houlden, Dr Conceição Bettencourt and Professor Michael Hanna Thesis submitted for the degree of Doctor of Philosophy University College London 2016 1 Declaration I, Qiang Gang, confirm that the work presented in this thesis is my own. Where information has been derived from other sources, I confirm that this has been indicated in the thesis. Signature………………………………………………………… Date……………………………………………………………... 2 Abstract The application of whole-exome sequencing (WES) has not only dramatically accelerated the discovery of pathogenic genes of Mendelian diseases, but has also shown promising findings in complex diseases. This thesis focuses on exploring genetic risk factors for a large series of sporadic inclusion body myositis (sIBM) cases, and identifying disease-causing genes for several groups of patients with abnormal structure and/or protein aggregates in muscle. Both conventional and advanced techniques were applied. Based on the International IBM Genetics Consortium (IIBMGC), the largest sIBM cohort of blood and muscle tissue for DNA analysis was collected as the initial part of this thesis. Candidate gene studies were carried out and revealed a disease modifying effect of an intronic polymorphism in TOMM40, enhanced by the APOE ε3/ε3 genotype. Rare variants in SQSTM1 and VCP genes were identified in seven of 181 patients, indicating a mutational overlap with neurodegenerative diseases. Subsequently, a first whole-exome association study was performed on 181 sIBM patients and 510 controls. This reported statistical significance of several common variants located on chromosome 6p21, a region encompassing genes related to inflammation/infection.
    [Show full text]
  • Conditions Where LDN Could Be of Benefit
    Conditions Where LDN Could Be of Benefit Acute disseminated encephalomyelitis Acute CREST syndrome hemorrhagic leukoencephalitis Addison's Disease Crohns Disease (one of two types of idiopathic Agammaglobulinemia inflammatory bowel disease "IBD") Alopecia areata Cushing's Syndrome Amyotrophic Lateral Sclerosis Cutaneous leukocytoclastic angiitis Ankylosing Spondylitis Dego's disease Anti-GBM/TBM Nephritis Antiphospholipid Dercum's disease syndrome Antisynthetase syndrome Dermatitis herpetiformis Asthma Dermatomyositis Atopic allergy Diabetes mellitus type 1 Atopic dermatitis Diffuse cutaneous systemic sclerosis Autoimmune aplastic anemia Autoimmune Discoid lupus erythematosus cardiomyopathy Autoimmune enteropathy Dressler's syndrome Autoimmune hemolytic anemia Autoimmune Eczema hepatitis Enthesitis-related arthritis Autoimmune inner ear disease Autoimmune Eosinophilic fasciitis lymphoproliferative syndrome Autoimmune Eosinophilic gastroenteritis pancreatitis Epidermolysis bullosa acquisita Autoimmune peripheral neuropathy Erythema nodosum Autoimmune polyendocrine syndrome Essential mixed cryoglobulinemia Autoimmune progesterone dermatitis Evan's syndrome Autoimmune thrombocytopenic purpura Fibrodysplasia ossificans progressiva Fibromyalgia Autoimmune urticaria (FB) Autoimmune uveitis Fibrosing aveolitis Balo disease/Balo concentric sclerosis Bechets Gastritis Syndrome Gastrointestinal pemphigoid Berger's disease Giant cell arteritis Bickerstaff's encephalitis Glomerulonephritis Blau syndrome Goodpasture's syndrome Bullous pemphigoid Graves'
    [Show full text]
  • Case Report Severe Rhabdomyolysis Without Systemic Involvement: a Rare Case of Idiopathic Eosinophilic Polymyositis
    Hindawi Publishing Corporation Case Reports in Rheumatology Volume 2015, Article ID 908109, 5 pages http://dx.doi.org/10.1155/2015/908109 Case Report Severe Rhabdomyolysis without Systemic Involvement: A Rare Case of Idiopathic Eosinophilic Polymyositis Ayesha Farooq, Vivek Choksi, Andrew Chu, Dhruti Mankodi, Sameer Shaharyar, Keith O’Brien, and Uday Shankar Aventura Hospital and Medical Center Internal Medicine Department, Aventura, FL 33180, USA Correspondence should be addressed to Ayesha Farooq; [email protected] Received 12 March 2015; Revised 17 May 2015; Accepted 18 May 2015 Academic Editor: Mario Salazar-Paramo Copyright © 2015 Ayesha Farooq et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Introduction. Eosinophilic polymyositis (EPM) is a rare cause of rhabdomyolysis characterized by eosinophilic infiltrates in the muscle. We describe the case of a young patient with eosinophilic polymyositis causing isolated severe rhabdomyolysis without systemic involvement. Case Presentation. A 22-year-old Haitian female with no past medical history presented with progressive generalized muscle aches without precipitating factors. Examination of the extremities revealed diffuse muscle tenderness. Laboratory findings demonstrated peripheral eosinophilia and high creatinine phosphokinase (CPK) and transaminase levels. Workup for the common causes of rhabdomyolysis were negative. Her CPK continued to rise to greater than 100,000 units/L so a muscle biopsy was performed which showed widespread eosinophilic infiltrate consistent with eosinophilic polymyositis. She was started on high dose systemic corticosteroids with improvement of her symptoms, eosinophilia, and CPK level. Discussion.This case illustrates a systematic workup of rhabdomyolysis in the presence of peripheral eosinophilia.
    [Show full text]