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Orphanet J Rare Dis 2022 06 16;17(1):227. Epub 2022 Jun 16.

Chair of Healthcare Management and Health Services Research, University of Bayreuth, Parsifalstrasse 25, 95445, Bayreuth, Germany.

Background: Inclusion body myositis (IBM) is a rare neuromuscular disease (NMD) and effective therapies are not available. Thus, it is relevant to determine the health-related quality of life (HRQoL) in IBM patients including aspects of mental health and illnesses.

Objectives: To identify and summarize the assessment of HRQoL, mental health and illnesses in IBM, the major factors that determine and influence them as well as the respective influence of IBM in general and compared to other NMD as a systematic review. Read More

J Neurol Sci 2022 Jun 8;439:120317. Epub 2022 Jun 8.

Department of Neurology, Nagoya University Graduate School of Medicine, Japan; Department of Clinical Research Education, Nagoya University Graduate School of Medicine, Japan. Electronic address:

Introduction: Sporadic inclusion body myositis (sIBM) is often accompanied by signs suggestive of denervation on electromyography (EMG), which mimics neurogenic disorders. Hence, the current study aimed to assess reinnervation after denervation in sIBM and its clinical impllcation.

Methods: We retrospectively examined consecutive muscle biopsy specimens collected from 109 sIBM patients who were referred to our institution for diagnostic muscle biopsy from 2001 to 2018. Read More

Front Immunol 2022 26;13:886290. Epub 2022 May 26.

Epidemiology and Public Health Group, School of Health Sciences, University of Manchester, Manchester, United Kingdom.

The idiopathic inflammatory myopathies (IIM) are rare, heterogeneous systemic autoimmune disorders, characterized by inflammation of skeletal muscle and multi-organ involvement. Studies to identify genetic risk factors and dysregulated gene expression in IIM aim to increase our understanding of disease pathogenesis. Genome-wide association studies have confirmed the HLA region as the most strongly associated region in IIM, with different associations between clinically-defined subgroups. Read More

Int J Rheum Dis 2022 Jun 9. Epub 2022 Jun 9.

Division of Rheumatology, Department of Internal Medicine, Nagoya City University Hospital, and Department of Respiratory Medicine, Allergy and Clinical Immunology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

Objective: To investigate the impact of dysphagia on long-term survival and swallowing function outcomes in patients with idiopathic inflammatory myopathy other than inclusion body myositis.

Methods: We retrospectively evaluated consecutive patients with idiopathic inflammatory myopathy other than inclusion body myositis to investigate the impact of dysphagia and its severity assessed using the Food Intake LEVEL Scale on survival and swallowing function outcomes. Time-to-event analyses were used, including Kaplan-Meier curves with log-rank (trend) test, cumulative incidence with Gray's test, and Cox proportional hazards models. Read More

OMICS 2022 Jun 3;26(6):339-347. Epub 2022 Jun 3.

Laboratory of Information Biology, Information Science and Technology, Hokkaido University, Sapporo, Japan.

Drug repurposing has broad importance in planetary health for therapeutics innovation in infectious diseases as well as common or rare chronic human diseases. Drug repurposing has also proved important to develop interventions against the COVID-19 pandemic. We propose a new approach for drug repurposing involving two-stage prediction and machine learning. Read More

Acta Neuropathol Commun 2022 Jun 3;10(1):84. Epub 2022 Jun 3.

Department of Neuropathology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.

Inclusion body myositis (IBM) is the most prevalent idiopathic inflammatory myopathy (IIM) affecting older adults. The pathogenic hallmark of IBM is chronic inflammation of skeletal muscle. At present, we do not classify IBM into different sub-entities, with the exception perhaps being the presence or absence of the anti-cN-1A-antibody. Read More

Neuromuscul Disord 2022 May 19. Epub 2022 May 19.

Department of Neurology, Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Amsterdam, the Netherlands.

We evaluated the clinical features and treatment response of patients with muscular sarcoidosis. A retrospective cohort of 12 patients showed muscle weakness in 11 and myalgia in seven. One had focal myositis. Read More

Ann Neurol 2022 May 20. Epub 2022 May 20.

Department of Laboratory Medicine, Institute of Biomedicine, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg.

Objective: We performed a population-based study on inclusion body myositis with the primary aims to define the prevalence, survival rate, and incidence, and to investigate the symptom profiles associated with disease duration and sex over a 33-year period.

Methods: Patients diagnosed between 1985 and 2017 in Region Västra Götaland, Sweden, were identified according to the European Neuromuscular Centre diagnostic criteria from 2011.

Results: We identified 128 patients, 89 men and 39 women, with the strict clinicopathological definition of inclusion body myositis. Read More

Neuromuscul Disord 2022 Jun 26;32(6):493-502. Epub 2022 Apr 26.

Center for Rheumatology and Spine Diseases, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Department of Rheumatology, Odense University Hospital, Odense, Denmark.

Sporadic inclusion body myositis (sIBM) is characterised by skeletal muscle inflammation, progressive muscle loss and weakness, which is largely refractory to immunosuppressive treatment. Low-load blood-flow restricted (BFR) training has been shown to evoke gains in myofibre cross sectional area (mCSA) in healthy adults. This could partially be due to the activation and integration of muscle satellite cells (SC) resulting in myonuclei addition. Read More

Rheumatology (Oxford) 2022 May 17. Epub 2022 May 17.

Myositis Support and Understanding, Lincoln, DE.

Objectives: Pain is commonly reported in people living with myositis. This study assesses the presence of pain in the subtypes of myositis as well frequency of opioid and non-opioid pain medication use.

Methods: A survey was developed and distributed by Myositis Support and Understanding, a patient-led advocacy organization, to members of its group. Read More

Indian J Pathol Microbiol 2022 May;65(Supplement):S241-S251

Department of Pathology, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.

Idiopathic inflammatory myopathy (IIM) is a broad term that includes dermatomyositis, polymyositis, overlap myositis, sporadic inclusion body myositis, and immune-mediated necrotizing myopathy. The understanding of the pathogenesis of IIM is ever-evolving with regular updates in the classification schema. With the recognition of autoantibodies and their detection, the diagnostic algorithms are changing in favor of non-invasive diagnoses. Read More

BMC Musculoskelet Disord 2022 May 6;23(1):425. Epub 2022 May 6.

China-Japan Friendship School of Clinical Medicine, Peking University, Beijing, 100029, China.

Objective: Immune-mediated necrotising myopathy (IMNM) is a subset of idiopathic inflammatory myopathies (IIM) characterized by significantly elevated creatine kinase level, muscle weakness and predominant muscle fibre necrosis in muscle biopsy. This study aimed to investigate the clinical and pathological characteristics of patients with IMNM in a single-centre muscle biopsy cohort.

Methods: A total of 860 patients who had muscle biopsy reports in our centre from May 2008 to December 2017 were enrolled in this study. Read More

Parasitol Int 2022 Aug 25;89:102590. Epub 2022 Apr 25.

Tropical Infectious Diseases Research Centre (TIDRC), University of Abomey-Calavi, 01BP 526, Cotonou, Benin; Institut Régional de Santé Publique/Université d'Abomey-Calavi, BP 384 Ouidah, Bénin.

Plasmodium falciparum and Plasmodium malariae infections are prevalent in malaria-endemic countries. However, very little is known about their interactions especially the effect of P. malariae on P. Read More

Int J Mol Sci 2022 Apr 13;23(8). Epub 2022 Apr 13.

Department of Neurology, Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, 1100 DD Amsterdam, The Netherlands.

Idiopathic inflammatory myopathies (IIM), collectively known as myositis, are a composite group of rare autoimmune diseases affecting mostly skeletal muscle, although other organs or tissues may also be involved. The main clinical feature of myositis is subacute, progressive, symmetrical muscle weakness in the proximal arms and legs, whereas subtypes of myositis may also present with extramuscular features, such as skin involvement, arthritis or interstitial lung disease (ILD). Established subgroups of IIM include dermatomyositis (DM), immune-mediated necrotizing myopathy (IMNM), anti-synthetase syndrome (ASyS), overlap myositis (OM) and inclusion body myositis (IBM). Read More

Methods Mol Biol 2022 ;2486:247-276

NeuroNetwork for Emerging Therapies, University of Michigan, Ann Arbor, MI, USA.

Neurological diseases are highly prevalent and constitute a significant cause of mortality and disability. Neurological disorders encompass a heterogeneous group of neurodegenerative conditions, broadly characterized by injury to the peripheral and/or central nervous system. Although the etiology of neurological diseases varies greatly, they share several characteristics, such as heterogeneity of clinical presentation, non-cell autonomous nature, and diversity of cellular, subcellular, and molecular pathways. Read More

Neurobiol Dis 2022 07 8;169:105722. Epub 2022 Apr 8.

Department of Developmental Molecular and Chemical Biology, Tufts University School of Medicine, Boston, MA, United States of America. Electronic address:

The 2021 VCP Scientific Conference took place virtually from September 9-10, 2021. This conference, planned and organized by the nonprofit patient advocacy group Cure VCP Disease, Inc. (https://www. Read More

Rheumatology (Oxford) 2022 Apr 9. Epub 2022 Apr 9.

Neurotherapeutics 2022 Apr 8. Epub 2022 Apr 8.

Muscle Immunobiology Group, Neuromuscular Center, Department of Neurology, University Medical Center Göttingen, Göttingen, Germany.

Inflammatory myopathies, including polymyositis (PM), dermatomyositis (DM), inclusion body myositis (IBM), necrotizing myopathy (NM), antisynthetase syndrome (ASS) and overlap myositis (OM), in short myositis, are rare diseases. All forms of myositis have progressive muscle weakness in common, with each subtype characterized by different autoantibody profiles, histological findings and extramuscular manifestations. Due to better understanding of the pathogenesis of the muscle inflammation in myositis, new molecular pathways for targeted therapy have been discovered. Read More

Commun Biol 2022 04 5;5(1):314. Epub 2022 Apr 5.

Molecular Pathology Lab, International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, Italy.

TDP-43 (TAR DNA-binding protein 43) aggregation and redistribution are recognised as a hallmark of amyotrophic lateral sclerosis and frontotemporal dementia. As TDP-43 inclusions have recently been described in the muscle of inclusion body myositis patients, this highlights the need to understand the role of TDP-43 beyond the central nervous system. Using RNA-seq, we directly compare TDP-43-mediated RNA processing in muscle (C2C12) and neuronal (NSC34) mouse cells. Read More

Front Med (Lausanne) 2022 16;9:842586. Epub 2022 Mar 16.

Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, United States.

Background: Little is known about the spatial distribution of idiopathic inflammatory myopathies (IIM) in the United States (U.S.), or their geospatial associations. Read More

ACR Open Rheumatol 2022 Jun 29;4(6):528-533. Epub 2022 Mar 29.

National Institute of Environmental Health Science, National Institutes of Health, Bethesda, Maryland, USA.

Objective: We undertook this study to examine the X chromosome complement in participants with systemic sclerosis (SSc) as well as idiopathic inflammatory myopathies.

Methods: The participants met classification criteria for the diseases. All participants underwent single-nucleotide polymorphism typing. Read More

Clin Exp Rheumatol 2022 May 28;40 Suppl 134(5):40-45. Epub 2022 Mar 28.

Policlinic and Hiller Research Unit for Rheumatology, ERN-ReCONNET member, University Clinic Duesseldorf, Heinrich-Heine-University Duesseldorf, Germany.

Objectives: To perform a systematic literature review (SLR) on the association of common variable immunodeficiency (CVID) and rare and complex connective tissue and musculoskeletal diseases, namely systemic lupus erythematosus (SLE), Sjögren's syndrome (SS), idiopathic inflammatory myopathies (IIM), systemic sclerosis (SSc), relapsing polychondritis, antiphospholipid syndrome, immunoglobulin (Ig) G4-related disease, as well as undifferentiated and mixed connective tissue disease.

Methods: An SLR on studies and cases about the association of CVID and rare and complex connective tissue and musculoskeletal diseases was performed. Animal studies were excluded. Read More

J Neurol Sci 2022 05 15;436:120228. Epub 2022 Mar 15.

Department of Neurology, Yale University School of Medicine, New Haven, CT, USA.

Background: Sporadic inclusion body myositis (IBM) is a debilitating disease which leads to impaired ambulation and loss of hand function. Yale IBM Registry (IBMR) was launched in November 2016 to address the knowledge gap in IBM natural history data. The registry interface provides an IBM personalized index calculator (IBM-PIC) based on the IBM-functional rating scale (IBM-FRS). Read More

Expert Rev Clin Immunol 2022 04 27;18(4):413-423. Epub 2022 Mar 27.

Department of Neurology, Thomas Jefferson University, Philadelphia, PA, USA.

Introduction: The inflammatory myopathies (IM) have now evolved into distinct subsets requiring clarification about their immunopathogenesis to guide applications of targeted therapies.

Areas Covered: Immunohistopathologic criteria of IM with a focus on complement, anti-complement therapeutics, and other biologic immunotherapies. The COVID19-triggered muscle autoimmunity along with the correct interpretation of muscle amyloid deposits is discussed. Read More

Eur J Med Genet 2022 Jun 16;65(6):104480. Epub 2022 Mar 16.

Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, CA, USA; Department of Neurology, Department of Pathology, University of California, Irvine, CA, USA. Electronic address:

Inclusion Body Myopathy, Paget's Disease of Bone, with Frontotemporal Dementia is a progressive autosomal dominant disease that affects the ubiquitin-proteasome complex, that is caused by variants in the Valosin Containing Protein (VCP) gene. We report the first case of concurrent pathogenic variants in both MYBPC3 and VCP that led to earlier onset of congestive heart failure with features of dilated cardiomyopathy. Cardiomyopathy has previously been associated with VCP inclusion body myopathy mostly at an advanced stage of the disease. Read More

Proc (Bayl Univ Med Cent) 2022 28;35(2):224-226. Epub 2021 Dec 28.

Department of Internal Medicine, Texas Tech University Health Sciences Center, Lubbock, Texas.

Spontaneous pneumoperitoneum is the presence of free air in the peritoneum without evidence of any perforation of hollow viscera. The usual presentation includes acute abdominal pain with leukocytosis and elevated inflammatory markers. Here we present a case of spontaneous pneumoperitoneum occurring recurrently in a 58-year-old man with inclusion body myositis and hypertension who presented with cellulitis of both legs. Read More

Eur J Neurol 2022 04;29(4):1284-1287

Department of Neurology, University Hospital Düsseldorf, Düsseldorf, Germany.

Background And Purpose: To provide further evidence for sirolimus, a mammalian target of rapamycin inhibitor, as a treatment strategy for patients with inclusion body myositis (IBM).

Methods: We acquired longitudinal clinical data and immunological assessments of CD8 T-cell subsets in peripheral blood for evaluation of potential anti-inflammatory treatment effects of sirolimus.

Results: Therapy with sirolimus 2 mg/day by mouth led to rapid and sustained clinical improvement of motor symptoms for an observation period of more than 1 year. Read More

Acta Radiol Open 2022 Feb 28;11(2):20584601221075796. Epub 2022 Feb 28.

Department of Neurology, Fukushima Medical University, Fukushima, Japan.

Background: Whole-body magnetic resonance imaging (WB-MRI) is a useful tool for revealing the disease-specific distribution of affected muscles and clinically asymptomatic muscle involvements in idiopathic inflammatory myopathies (IIMs).

Purpose: To examine inflammatory changes in the systemic skeletal muscles, including the thoracoabdominal trunk, in IIMs using WB-MRI.

Material And Methods: We prospectively obtained WB-MRI axial images from 10 patients with IIMs, including antisynthetase syndrome (ASS), immune-mediated necrotizing myopathy (IMNM), sporadic inclusion body myositis, and myopathy associated with antimitochondrial antibody. Read More

J Neurol 2022 Mar 4. Epub 2022 Mar 4.

Department of Neurology, Copenhagen Neuromuscular Center and Department of Neurology, Rigshospitalet and Copenhagen University, Copenhagen, Denmark.

Objective: Dysphagia can be troublesome in sporadic inclusion body myositis (sIBM) and oculopharyngeal muscular dystrophy (OPMD), but no established treatment exists. Cricopharyngeal muscle botulinum toxin injection has at case level been reported to be effective. We evaluated safety and efficacy of botulinum toxin injections in the cricopharyngeal muscle in patients with dysphagia due to sIBM or OPMD. Read More

J Neurol 2022 Mar 2. Epub 2022 Mar 2.

Folkhälsan Research Center, Helsinki, Finland.

Objective: Inclusion body myositis (IBM) has an unclear molecular etiology exhibiting both characteristic inflammatory T-cell activity and rimmed-vacuolar degeneration of muscle fibers. Using in-depth gene expression and splicing studies, we aimed at understanding the different components of the molecular pathomechanisms in IBM.

Methods: We performed RNA-seq on RNA extracted from skeletal muscle biopsies of clinically and histopathologically defined IBM (n = 24), tibial muscular dystrophy (n = 6), and histopathologically normal group (n = 9). Read More