keyword
https://read.qxmd.com/read/38494286/paraneoplastic-myopathies
#1
JOURNAL ARTICLE
Andrew L Mammen
This chapter reviews the association between cancer and the idiopathic inflammatory myopathies (IIM), which includes dermatomyositis (DM), antisynthetase syndrome (ASyS), immune-mediated necrotizing myopathy (IMNM), and inclusion body myositis (IBM). Accumulating evidence shows that the risk of a coexisting malignancy is high in patients with DM, especially among those with anti-Tif1γ autoantibodies. Patients with IMNM and no defined autoantibodies also have an increased risk of malignancy. Recent evidence demonstrates that many IBM patients have increased numbers of circulating CD57+ CD8+ T cells, consistent with a diagnosis of large granular lymphocytic leukemia...
2024: Handbook of Clinical Neurology
https://read.qxmd.com/read/38488306/evaluating-disease-status-in-idiopathic-inflammatory-myopathies-with-quantitative-muscle-ultrasound
#2
JOURNAL ARTICLE
Jie Ying Tan, Cheng Yin Tan, Mohd Azly Yahya, Nortina Shahrizaila, Khean Jin Goh
INTRODUCTION/AIMS: Muscle strength, functional status, and muscle enzymes are conventionally used to evaluate disease status in idiopathic inflammatory myopathies (IIM). This study aims to investigate the role of quantitative muscle ultrasound in evaluating disease status in IIM patients. METHODS: Patients with IIM, excluding inclusion body myositis, were recruited along with age- and sex-matched healthy controls (HC). All participants underwent muscle ultrasound and clinical assessments...
March 15, 2024: Muscle & Nerve
https://read.qxmd.com/read/38488095/polymyositis-is-a-rare-and-favourable-outcome-subtype-of-idiopathic-inflammatory-myopathy-in-chinese-patients
#3
JOURNAL ARTICLE
Chao Sun, Xiaolan Tian, Hongxia Yang, Hanbo Yang, Shanshan Li, Wei Jiang, Qinglin Peng, Guochun Wang, Xin Lu
OBJECTIVES: To investigate the prevalence and characteristics of typical polymyositis (PM) in Chinese patients with idiopathic inflammatory myopathy (IIM). METHODS: Patients diagnosed with IIM according to the 2017 EULAR/ACR criteria were included. Serological aspects including myositis-specific antibodies (MSA) and pathological data were re-evaluated. The diagnosis of typical PM was strictly done using the pathological criteria, while excluding other IIM subtypes such as dermatomyositis (DM), immune-mediated necrotising myopathies (IMNM), anti-synthetase syndrome (ASS), and sporadic inclusion body myositis (sIBM), based on their respective diagnostic criteria...
February 2024: Clinical and Experimental Rheumatology
https://read.qxmd.com/read/38471704/hiv-associated-nemaline-myopathy-manifesting-as-bent-spine-syndrome
#4
JOURNAL ARTICLE
Ali Zagham Nasir, Andrew Jameson
HIV-associated myopathies include HIV-associated polymyositis, inclusion body myositis, diffuse infiltrative lymphocytosis syndrome and sporadic late-onset nemaline myopathy (HIV-NM). HIV-NM typically manifests as a painless, progressive proximal and axial muscle weakness with characteristic histological findings of intracytoplasmic rods, or nemaline bodies, seen in atrophic muscle fibres. HIV-NM presents prior to or shortly after initiation of antiretroviral therapy (ART) and is treated with intravenous immunoglobulin, glucocorticoids or immunosuppression...
March 12, 2024: BMJ Case Reports
https://read.qxmd.com/read/38467645/bone-scan-findings-of-paget-s-disease-of-bone-in-patients-with-vcp-multisystem-proteinopathy-1
#5
JOURNAL ARTICLE
Rod Carlo Agram Columbres, Sarosh Din, Liliane Gibbs, Virginia Kimonis
Multisystem Proteinopathy 1 (MSP1) disease is a rare genetic disorder caused by mutations in the Valosin-Containing Protein (VCP) gene with clinical features of inclusion body myopathy (IBM), frontotemporal dementia (FTD), and Paget's disease of bone (PDB). We performed bone scan imaging in twelve patients (6 females, 6 males) with confirmed VCP gene mutation six (50%) of which has myopathy alone, four (33%) with both PDB and myopathy, and two (15%) were presymptomatic carriers. We aim to characterize the PDB in diagnosed individuals, and potentially identify PDB in the myopathy and presymptomatic groups...
March 11, 2024: Scientific Reports
https://read.qxmd.com/read/38466916/sarcoid-myopathy-an-insidious-diagnosis-that-can-mimic-inclusion-body-myositis
#6
JOURNAL ARTICLE
Kristen Mathias, Maximilian F Konig, Thomas Lloyd, Jemima Albayda
No abstract text is available yet for this article.
March 11, 2024: Rheumatology
https://read.qxmd.com/read/38438820/quantitative-whole-body-muscle-mri-in-idiopathic-inflammatory-myopathies-including-polymyositis-with-mitochondrial-pathology-indications-for-a-disease-spectrum
#7
JOURNAL ARTICLE
Lea-Katharina Zierer, Steffen Naegel, Ilka Schneider, Thomas Kendzierski, Kathleen Kleeberg, Anna Katharina Koelsch, Leila Scholle, Christoph Schaefer, Arne Naegel, Stephan Zierz, Markus Otto, Gisela Stoltenburg-Didinger, Torsten Kraya, Dietrich Stoevesandt, Alexander Mensch
OBJECTIVE: Inflammatory myopathies (IIM) include dermatomyositis (DM), sporadic inclusion body myositis (sIBM), immune-mediated necrotizing myopathy (IMNM), and overlap myositis (OLM)/antisynthetase syndrome (ASyS). There is also a rare variant termed polymyositis with mitochondrial pathology (PM-Mito), which is considered a sIBM precursor. There is no information regarding muscle MRI for this rare entity. The aim of this study was to compare MRI findings in IIM, including PM-Mito. METHODS: This retrospective analysis included 41 patients (7 PM-Mito, 11 sIBM, 11 PM/ASyS/OLM, 12 IMNM) and 20 healthy controls...
March 5, 2024: Journal of Neurology
https://read.qxmd.com/read/38430004/inclusion-body-myositis-associated-with-sj%C3%A3-gren-s-disease-clinical-characteristics-and-comparison-with-other-sj%C3%A3-gren-associated-myositis
#8
JOURNAL ARTICLE
Quentin Astouati, Thomas Machet, Camille Houssais, Jean-Baptiste Noury, Yves Allenbach, Laure Gallay, Baptiste Quere, Florence Assan, Olivier Benveniste, Jonathan Broner, Pierre Duffau, Alexandra Espitia, Anne Grasland, Gilles Hayem, Véronique Le Guern, Nihal Martis, Kuberaka Mariampillai, Gaëtane Nocturne, Xavier Mariette, Alain Meyer, Denis Mulleman, Valérie Devauchelle-Pensec, Aurore Collet, David Launay, Eric Hachulla, Divi Cornec, Dewi Guellec, Sébastien Sanges
OBJECTIVES: To describe the characteristics of patients with Sjögren's disease (SjD) and inclusion-body myositis (IBM), and how they compare to SjD patients with other inflammatory myopathies (IM). METHODS: Patients were retrospectively recruited from 13 French centers and included if they met the ACR/EULAR criteria for SjD and for IM. They were categorized as SjD-IBM if sub-criteria for IBM were met, or as SjD-other IM if not. RESULTS: SjD-IBM patients (n = 22) were mostly females (86%), with a median [Q1; Q3] age of 54 [38...
March 1, 2024: Rheumatology
https://read.qxmd.com/read/38357523/cellular-activation-patterns-of-cd10-fibro-adipogenic-progenitors-across-acquired-disease-states-in-human-skeletal-muscle-biopsies
#9
JOURNAL ARTICLE
Peter W Schutz, Simon Cheung, Lin Yi, Fabio M V Rossi
Background: Fibro-adipogenic progenitors (FAP) are muscle resident mesenchymal stem cells pivotal for regulation of myofiber repair. Experimental results show in addition involvement in a range of other pathological conditions and potential for pharmacological intervention. FAP histopathology in human muscle biopsies is largely unknown, but has potential to inform translational research. Methods: CD10+ FAPs in 32 archival muscle biopsies from 8 groups (normal, dermatomyositis, inclusion body myositis (IBM), anti-synthetase syndrome, immune-mediated necrotizing myopathy (IMNM), denervation, type 2 atrophy, rhabdomyolysis) were visualized by CD10 immunohistochemistry and their histology compared...
January 2024: Free neuropathology
https://read.qxmd.com/read/38333999/myofibrillar-myopathies-due-to-a-novel-mutation-in-exon-8-of-the-ldb3-gene
#10
Hongjia Du, Yan Chen, Li Zeng, Rui Wu, Tong Wu, Jing Zhu
Myofibrillar myopathies (MFMs) are a group of genetically heterogeneous diseases affecting the skeletal and cardiac muscles. Myofibrillar myopathies are characterized by focal lysis of myogenic fibers and integration of degraded myogenic fiber products into inclusion bodies, which are typically rich in desmin and many other proteins. Herein, we report a case of a 54-year-old woman who experienced bilateral thigh weakness for over three years. She was diagnosed with MFMs based on muscle biopsy findings and the presence of a novel mutation in exon 8 of the LDB3 gene...
February 2024: International Journal of Rheumatic Diseases
https://read.qxmd.com/read/38319192/bilateral-facial-palsy-a-rare-presenting-symptom-for-inclusion-body-myositis
#11
JOURNAL ARTICLE
Elana Meer, Meleha Ahmad, Seanna Grob, Bryan J Winn
Inclusion body myositis is a common type of inflammatory myopathy among populations over the age of 50 years, classically presenting with weakness and atrophy of the forearms and quadriceps. While a third of patients may eventually present with mild facial weakness, findings of ptosis, facial palsy, or involvement of extraocular muscles are rarely, if ever, seen. The authors describe a unique case of inclusion body myositis in which a patient initially presented with bilateral severe facial palsy and exposure keratitis but minimal limb weakness...
February 2, 2024: Ophthalmic Plastic and Reconstructive Surgery
https://read.qxmd.com/read/38314304/a-case-report-of-adolescent-myofibrillar-myopathy-due-to-a-de-novo-r406w-pathogenic-variant-in-desmin-with-symptoms-of-hypertrophic-cardiomyopathy
#12
Hongyan Xiao, Laichun Song, Liang Tao
OBJECTIVE: Myofibrillar myopathies (MFM) are a group of sporadic and inherited progressive skeletal muscle disorders that can lead to physical disability and premature death. To date, pathogenic variants in different genes are associated with MFM. MFM induced by variants in the Desmin ( DES ) gene is the most common subtype of MFM. CASE PRESENTATION: A 15-year-old boy with MFM was described, whose symptoms first presented as cardiac symptoms. Enlarged right and left atria, thickened ventricular septal (IVS) and mild mitral (MR) and tricuspid regurgitation (TR) in the echocardiography were found...
February 15, 2024: Heliyon
https://read.qxmd.com/read/38302176/cancer-risk-and-mortality-in-hospitalised-patients-with-idiopathic-inflammatory-myopathies-in-western-australia
#13
JOURNAL ARTICLE
Johannes Nossent, Helen Keen, David Preen, Charles Inderjeeth
OBJECTIVE: To compare cancer incidence, type and survival between patients with idiopathic inflammatory myopathies (IIMs) in Western Australia (WA) and the general population. METHODS: Administrative health data for hospitalised patients with incident IIM (n=803, 56% female, age 62 years), classified by a validated algorithm as polymyositis (PM)(36.3%) , dermatomyositis (DM,27.4%), inclusion body myositis (IBM,17%), overlap myositis (OM,10.7%) and other IIM (8.3%) linked to WA cancer and death registries for the period 1980 - 2014...
February 1, 2024: Journal of Rheumatology
https://read.qxmd.com/read/38293948/mitochondrial-transfer-and-implications-for-muscle-function-in-idiopathic-inflammatory-myopathies
#14
REVIEW
Jorge Armando Gonzalez Chapa, Marina Barguil Macêdo, Elie Naddaf, Lesley Ann Saketkoo, Christian Lood
Impairment in cellular bioenergetics as either the cause, consequence, or major contributor of tissue damage has drawn increasing scientific curiosity across aging and chronic health conditions, with mitochondrial dysfunction emerging as a central mechanism in the pathogenesis of a variety of inflammatory and degenerative disorders. Beyond bioenergetics, mitochondria play critical regulatory roles in programmed cell death of dysfunctional/defective cells as well as in metabolite synthesis and metabolic signalling...
January 25, 2024: Clinical and Experimental Rheumatology
https://read.qxmd.com/read/38287512/nationwide-survey-of-patients-with-multisystem-proteinopathy-in-japan
#15
JOURNAL ARTICLE
Satoshi Yamashita, Yuji Takahashi, Jun Hashimoto, Ayuka Murakami, Ryoichi Nakamura, Masahisa Katsuno, Rumiko Izumi, Naoki Suzuki, Hitoshi Warita, Masashi Aoki
OBJECTIVE: Multisystem proteinopathy (MSP) is an inherited disorder in which protein aggregates with TAR DNA-binding protein of 43 kDa form in multiple organs. Mutations in VCP, HNRNPA2B1, HNRNPA1, SQSTM1, MATR3, and ANXA11 are causative for MSP. This study aimed to conduct a nationwide epidemiological survey based on the diagnostic criteria established by the Japan MSP study group. METHODS: We conducted a nationwide epidemiological survey by administering primary and secondary questionnaires among 6235 specialists of the Japanese Society of Neurology...
January 29, 2024: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/38277547/frequency-of-emg-abnormalities-in-idiopathic-inflammatory-myopathies-under-the-eular-acr-classification-criteria
#16
JOURNAL ARTICLE
Keiichi Hokkoku, Junpei Yamamoto, Yudai Uchida, Amuro Kondo, Taiji Mukai, Yuki Hatanaka, Hajime Kono, Jun Shimizu, Shunsuke Kobayashi, Masahiro Sonoo
The European League Against Rheumatism/American College of Rheumatology (EULAR/ACR) classification criteria for idiopathic inflammatory myopathies (IIM) have been widely used in recent times. However, no studies have focused on electromyography (EMG) findings of IIM, considering the criteria. This study aimed to elucidate the frequency of EMG abnormalities, particularly fibrillation potentials and positive sharp waves (Fib/PSW), the most objective EMG findings of IIM. Clinical and EMG records of adult patients who were clinically diagnosed with polymyositis (PM), dermatomyositis (DM), amyopathic DM (ADM), or inclusion body myositis (IBM) were retrospectively reviewed and classified according to the EULAR/ACR classification criteria...
January 26, 2024: Medicine (Baltimore)
https://read.qxmd.com/read/38249245/the-role-of-genetic-analysis-in-demystifying-the-diagnosis-in-a-middle-aged-male-presenting-with-proximal-muscle-weakness-and-sclerotic-lytic-skeletal-lesions
#17
Soham Mukherjee, Karthik V Mahesh, Sanjay K Bhadada, Debajyoti Chatterjee, Rajender Kumar
Paget's disease of bone (PDB) usually presents with bone pain and deformities. Herein, we describe a case of PDB who presented with gradually progressive quadriparesis. A man in his forties presented with gradually progressive proximal muscle weakness involving all four limbs. The patient had an elevated serum alkaline phosphatase level and osteosclerosis at various skeletal sites in a radiological skeletal survey. 18F-fluorodeoxyglucose (FDG) PET-CT showed FDG-avid sclerotic-lytic lesions at multiple skeletal sites...
December 2023: Curēus
https://read.qxmd.com/read/38243695/from-data-to-diagnosis-how-machine-learning-is-revolutionizing-biomarker-discovery-in-idiopathic-inflammatory-myopathies
#18
REVIEW
Emily McLeish, Nataliya Slater, Frank L Mastaglia, Merrilee Needham, Jerome D Coudert
Idiopathic inflammatory myopathies (IIMs) are a heterogeneous group of muscle disorders including adult and juvenile dermatomyositis, polymyositis, immune-mediated necrotising myopathy and sporadic inclusion body myositis, all of which present with variable symptoms and disease progression. The identification of effective biomarkers for IIMs has been challenging due to the heterogeneity between IIMs and within IIM subgroups, but recent advances in machine learning (ML) techniques have shown promises in identifying novel biomarkers...
November 22, 2023: Briefings in Bioinformatics
https://read.qxmd.com/read/38237079/novel-gne-missense-variants-impair-de-novo-sialylation-and-cause-defective-angiogenesis-in-the-developing-brain-in-mice
#19
JOURNAL ARTICLE
Lulu Huang, Yuji Kondo, Lijuan Cao, Jingjing Han, Tianyi Li, Bin Zuo, Fei Yang, Yun Li, Zhenni Ma, Xia Bai, Miao Jiang, Changgeng Ruan, Lijun Xia
Glucosamine (UDP-N-acetyl)-2-epimerase and N-acetylmannosamine (ManNAc) kinase (GNE) is a cytosolic enzyme in de novo sialic acid biosynthesis. Congenital deficiency of GNE causes an autosomal recessive genetic disorder associated with hereditary inclusion body myopathy and macrothrombocytopenia. Here, we report a pediatric patient with severe macrothrombocytopenia carrying two novel GNE missense variants, c.1781G>A (p.Cys594Tyr, hereafter, C594Y) and c.2204C>G (p.Pro735Arg, hereafter, P735R). To investigate the biological significance of these variants in vivo, we generated a mouse model carrying the P735R mutation...
January 18, 2024: Blood Advances
https://read.qxmd.com/read/38159460/adolescent-onset-multisystem-proteinopathy-due-to-a-novel-vcp-variant
#20
Pannathat Soontrapa, Nathan A Seven, Teerin Liewluck, Gaofeng Cui, Georges Mer, Margherita Milone
Valosin-containing protein (VCP) pathogenic variants are the most common cause of multisystem proteinopathy presenting with inclusion body myopathy, amyotrophic lateral sclerosis/frontotemporal dementia, and Paget disease of bone in isolation or in combination. We report a patient manifesting with adolescent-onset myopathy caused by a novel heterozygous VCP variant (c.467G > T, p.Gly156Val). The myopathy manifested asymmetrically in lower limbs and extended to proximal, axial, and upper limb muscles, with loss of ambulation at age 35...
January 2024: Neuromuscular Disorders: NMD
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