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https://www.readbyqxmd.com/read/29428167/local-texture-anisotropy-as-an-estimate-of-muscle-quality-in-ultrasound-imaging
#1
Guillaume J R Dubois, Damien Bachasson, Lilian Lacourpaille, Olivier Benveniste, Jean-Yves Hogrel
This study introduces local pattern texture anisotropy as a novel parameter to differentiate healthy and disordered muscle and to gauge the severity of muscle impairments based on B-mode ultrasound images. Preliminary human results are also presented. A local pattern texture anisotropy index (TAI) was computed in one region of interest in the short head of the biceps brachii. The effects of gain settings and box sizes required for TAI computation were investigated. Between-day reliability was studied in patients with sporadic inclusion body myositis (n = 26)...
February 7, 2018: Ultrasound in Medicine & Biology
https://www.readbyqxmd.com/read/29426734/inclusion-body-myositis-and-human-immunodeficiency-virus-type-1-a-new-case-report-and-literature-review
#2
Priscille Couture, Edoardo Malfatti, Geneviève Morau, Alexis Mathian, Fleur Cohen-Aubart, Hubert Nielly, Zahir Amoura, Patrick Cherin
Prevalence of muscle disease in human immunodeficiency virus (HIV) infection is less than 1% of patients with acquired immune deficiency syndrome. Sporadic inclusion body myositis (IBM) is observed in a few cases of patients infected by retroviruses such as HIV-1. A Caucasian man was diagnosed with HIV when he was 30 years old. The viral load was undetectable and CD4 cell count was 600/mm3 when the diagnosis of inclusion body myositis was confirmed. Histological findings were typical of IBM. The treatment consisted of immunoglobulin therapy for three years without effect...
January 10, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29409450/using-an-onset-anchored-bayesian-hierarchical-model-to-improve-predictions-for-amyotrophic-lateral-sclerosis-disease-progression
#3
Alex G Karanevich, Jeffrey M Statland, Byron J Gajewski, Jianghua He
BACKGROUND: Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig's disease, is a rare disease with extreme between-subject variability, especially with respect to rate of disease progression. This makes modelling a subject's disease progression, which is measured by the ALS Functional Rating Scale (ALSFRS), very difficult. Consider the problem of predicting a subject's ALSFRS score at 9 or 12 months after a given time-point. METHODS: We obtained ALS subject data from the Pooled Resource Open-Access ALS Clinical Trials Database, a collection of data from various ALS clinical trials...
February 6, 2018: BMC Medical Research Methodology
https://www.readbyqxmd.com/read/29402601/mitophagy-in-three-cases-of-immune-mediated-necrotizing-myopathy-associated-with-anti-3-hydroxy-3-methylglutaryl-coenzyme-a-reductase-autoantibodies-ultrastructural-and-immunohistochemical-studies
#4
Shiro Matsubara, Kota Bokuda, Yuri Asano, Ryo Morishima, Keizo Sugaya, Kazuhito Miyamoto, Reiji Koide, Takashi Komori, Shigeaki Suzuki, Ichizo Nishino
Immune-mediated necrotizing myopathy (IMNM) associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) autoantibodies occurs in patients both with and without history of statin-intake. The mechanisms of muscle fiber degeneration in this condition remain unknown. We studied pathological changes in muscle biopsies from three patients lacking history of statin-intake. Ultrastructural observations showed accumulation of degenerating mitochondria, glycogen granules and autophagic vacuoles, forming large composites in three cases, along with various nonspecific changes...
January 11, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29396013/coexistence-of-anti-jo1-and-anti-signal-recognition-particle-antibodies-in-a-polymyositis-patient
#5
Enrique Melguizo Madrid, Patricia Fernández Riejos, Francisco Javier Toyos Sáenz de Miera, Berta Fernández Pérez, Concepción González Rodríguez
Idiopathic inflammatory myopathies are a heterogeneous group of potentially treatable myopathies. They are classified, on the basis of clinical and histopathological features, into four subtypes: dermatomyositis, polymyositis, necrotizing autoimmune myositis and inclusion-body myositis. Myositis-associated antibodies and myositis-specific autoantibodies are frequently found in patients with idiopathic inflammatory myopathies, and are useful in the diagnosis and classification. Anti-histidyl transfer RNA synthetase antibody is the most widely prevalent and is highly specific for polymyositis...
January 25, 2018: Reumatología Clinica
https://www.readbyqxmd.com/read/29363513/anti-nt5c1a-autoantibodies-are-associated-with-more-severe-disease-in-patients-with-juvenile-myositis
#6
Richard M Yeker, Iago Pinal-Fernandez, Takayuki Kishi, Katherine Pak, Ira N Targoff, Frederick W Miller, Lisa G Rider, Andrew L Mammen
OBJECTIVES: Autoantibodies recognising cytosolic 5'-nucleotidase 1A (NT5C1A) are found in adult patients with myositis and other autoimmune diseases. They are especially prevalent in adults with inclusion body myositis (IBM), in which they are associated with more severe weakness and higher mortality. This study was undertaken to define the prevalence and clinical features associated with anti-NT5C1A autoantibodies in juvenile myositis. METHODS: We screened sera from 380 patients with juvenile myositis, 30 patients with juvenile idiopathic arthritis (JIA) and 92 healthy control children for anti-NT5C1A autoantibodies...
January 23, 2018: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/29187847/a-multilayered-control-of-the-human-survival-motor-neuron-gene-expression-by-alu-elements
#7
REVIEW
Eric W Ottesen, Joonbae Seo, Natalia N Singh, Ravindra N Singh
Humans carry two nearly identical copies of Survival Motor Neuron gene: SMN1 and SMN2. Mutations or deletions of SMN1, which codes for SMN, cause spinal muscular atrophy (SMA), a leading genetic disease associated with infant mortality. Aberrant expression or localization of SMN has been also implicated in other pathological conditions, including male infertility, inclusion body myositis, amyotrophic lateral sclerosis and osteoarthritis. SMN2 fails to compensate for the loss of SMN1 due to skipping of exon 7, leading to the production of SMNΔ7, an unstable protein...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29172005/cytokine-profiling-of-serum-allows-monitoring-of-disease-progression-in-inclusion-body-myositis
#8
Umesh A Badrising, Roula Tsonaka, Monika Hiller, Erik H Niks, Teresinha Evangelista, Hanns Lochmüller, Jan Jgm Verschuuren, Annemieke Aartsma-Rus, Pietro Spitali
BACKGROUND: Inclusion body myositis is a late onset inflammatory myopathy lacking reliable serum biomarkers for diagnosis and for disease progression. OBJECTIVE: To identify diagnostic and predictive biomarkers, cytokine profiling is used to assess the potential of cytokines to discriminate between cases and controls and to assess whether treatment with methotrexate can influence biomarkers associated with disease progression. METHODS: The diagnostic and follow-up potential of 48 cytokines was tested using Bioplex-assay and ELISA in sera of healthy individuals, IBM patients and patients with other neuromuscular disorders...
2017: Journal of Neuromuscular Diseases
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
#9
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/29054330/tongue-strength-in-patients-with-subacute-myelo-optico-neuropathy
#10
Satoshi Yamashita, Tatsuya Nakama, Mitsuharu Ueda, Shoji Honda, En Kimura, Masaaki Konagaya, Yukio Ando
Subacute myelo-optico-neuropathy (SMON) is a neurodegenerative disease that may be caused by overdose or prolonged oral administration of clioquinol. Recently, dysphagia has attracted attention as a complication of SMON. To investigate lingual control in SMON, we examined patients with SMON using assessments of maximum tongue pressure, compared with dysphagia-related diseases, such as sporadic inclusion body myositis (sIBM) and amyotrophic lateral sclerosis (ALS), and healthy volunteer. The mean maximum tongue pressure (Pmax) in patients with SMON was 14...
October 17, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28952813/sporadic-inclusion-body-myositis-mri-findings-and-correlation-with-clinical-and-functional-parameters
#11
Julio Brandao Guimaraes, Edmar Zanoteli, Thomas M Link, Leonardo V de Camargo, Luca Facchetti, Lorenzo Nardo, Artur da Rocha Correa Fernandes
OBJECTIVE: The purpose of this prospective study is to assess MRI findings in patients with sporadic inclusion body myositis (IBM) and correlate them with clinical and functional parameters. SUBJECTS AND METHODS: This study included 12 patients with biopsy-proven sporadic IBM. All patients underwent MRI of the bilateral upper and lower extremities. The images were scored for muscle atrophy, fatty infiltration, and edema pattern. Clinical data included onset and duration of disease...
December 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/28943839/cellular-chaperones-as-therapeutic-targets-in-als-to-restore-protein-homeostasis-and-improve-cellular-function
#12
REVIEW
Bernadett Kalmar, Linda Greensmith
Heat shock proteins (Hsps) are ubiquitously expressed chaperone proteins that enable cells to cope with environmental stresses that cause misfolding and denaturation of proteins. With aging this protein quality control machinery becomes less effective, reducing the ability of cells to cope with damaging environmental stresses and disease-causing mutations. In neurodegenerative disorders such as Amyotrophic Lateral Sclerosis (ALS), such mutations are known to result in protein misfolding, which in turn results in the formation of intracellular aggregates cellular dysfunction and eventual neuronal death...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28915917/translocation-of-molecular-chaperones-to-the-titin-springs-is-common-in-skeletal-myopathy-patients-and-affects-sarcomere-function
#13
Andreas Unger, Lisa Beckendorf, Pierre Böhme, Rudolf Kley, Marion von Frieling-Salewsky, Hanns Lochmüller, Rolf Schröder, Dieter O Fürst, Matthias Vorgerd, Wolfgang A Linke
Myopathies encompass a wide variety of acquired and hereditary disorders. The pathomechanisms include structural and functional changes affecting, e.g., myofiber metabolism and contractile properties. In this study, we observed increased passive tension (PT) of skinned myofibers from patients with myofibrillar myopathy (MFM) caused by FLNC mutations (MFM-filaminopathy) and limb-girdle muscular dystrophy type-2A due to CAPN3 mutations (LGMD2A), compared to healthy control myofibers. Because the giant protein titin determines myofiber PT, we measured its molecular size and the titin-to-myosin ratio, but found no differences between myopathies and controls...
September 15, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28877943/systematic-review-of-the-evidence-on-orthotic-devices-for-the-management-of-knee-instability-related-to-neuromuscular-and-central-nervous-system-disorders
#14
Catriona McDaid, Debra Fayter, Alison Booth, Joanne O'Connor, Rocio Rodriguez-Lopez, Dorothy McCaughan, Roy Bowers, Cynthia P Iglesias, Simon Lalor, Rory J O'Connor, Margaret Phillips, Gita Ramdharry
OBJECTIVES: To assess the effectiveness of orthotic devices for the management of instability of the knee in adults with a neuromuscular disorder or central nervous system disorder. DESIGN: A systematic review of primary studies. SETTING: Community. PARTICIPANTS: Adults with a neuromuscular disorder or central nervous system disorder and impaired walking ability due to instability of the knee. INTERVENTIONS: Orthoses with the clinical aim of controlling knee instability, for example, knee-ankle-foot orthoses, ankle-foot orthoses and knee orthoses or mixed design with no restrictions in design or material...
September 5, 2017: BMJ Open
https://www.readbyqxmd.com/read/28870555/botulinum-toxin-alleviates-dysphagia-of-patients-with-inclusion-body-myositis
#15
Aleksi Schrey, Laura Airas, Manu Jokela, Jaakko Pulkkinen
OBJECTIVES: Oropharyngeal dysphagia is a disabling and undertreated symptom that often occurs in patients with sporadic inclusion body myositis (s-IBM). In this study, we examined the effect of botulinum neurotoxin A (BoNT-A) injections to the cricopharyngeus muscle (CPM) of patients with s-IBM and dysphagia. PATIENTS, MATERIALS AND METHODS: A single-center retrospective study involving 40 biopsy-proven s-IBM-patients treated in the District of Southwest Finland from 2000 to 2013...
September 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28857524/concomitant-occurrence-of-fxtas-and-clinically-defined-sporadic-inclusion-body-myositis-report-of-two-cases
#16
Mirna Lechpammer, Verónica Martínez Cerdeńo, Michael Ryan Hunsaker, Mina Hah, Hilary Gonzales, Steve Tisch, Ronald Joffe, Roger Pamphlett, Flora Tassone, Paul J Hagerman, Samuel J Bolitho, Randi J Hagerman
This report describes unique presentations of inclusion body myositis (IBM) in two unrelated patients, one male and one female, with genetically and histologically confirmed fragile X-associated tremor/ataxia syndrome (FXTAS). We summarize overlapping symptoms between two disorders, clinical course, and histopathological analyses of the two patients with FXTAS and sporadic IBM, clinically defined per diagnostic criteria of the European Neuromuscular Centre. In case 1, a post-mortem analysis of available brain and muscle tissues is also described...
August 31, 2017: Croatian Medical Journal
https://www.readbyqxmd.com/read/28855174/the-euromyositis-registry-an-international-collaborative-tool-to-facilitate-myositis-research
#17
James B Lilleker, Jiri Vencovsky, Guochun Wang, Lucy R Wedderburn, Louise Pyndt Diederichsen, Jens Schmidt, Paula Oakley, Olivier Benveniste, Maria Giovanna Danieli, Katalin Danko, Nguyen Thi Phuong Thuy, Monica Vazquez-Del Mercado, Helena Andersson, Boel De Paepe, Jan L deBleecker, Britta Maurer, Liza J McCann, Nicolo Pipitone, Neil McHugh, Zoe E Betteridge, Paul New, Robert G Cooper, William E Ollier, Janine A Lamb, Niels Steen Krogh, Ingrid E Lundberg, Hector Chinoy
AIMS: The EuroMyositis Registry facilitates collaboration across the idiopathic inflammatory myopathy (IIM) research community. This inaugural report examines pooled Registry data. METHODS: Cross-sectional analysis of IIM cases from 11 countries was performed. Associations between clinical subtypes, extramuscular involvement, environmental exposures and medications were investigated. RESULTS: Of 3067 IIM cases, 69% were female. The most common IIM subtype was dermatomyositis (DM) (31%)...
August 30, 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/28854220/automated-diagnosis-of-myositis-from-muscle-ultrasound-exploring-the-use-of-machine-learning-and-deep-learning-methods
#18
Philippe Burlina, Seth Billings, Neil Joshi, Jemima Albayda
OBJECTIVE: To evaluate the use of ultrasound coupled with machine learning (ML) and deep learning (DL) techniques for automated or semi-automated classification of myositis. METHODS: Eighty subjects comprised of 19 with inclusion body myositis (IBM), 14 with polymyositis (PM), 14 with dermatomyositis (DM), and 33 normal (N) subjects were included in this study, where 3214 muscle ultrasound images of 7 muscles (observed bilaterally) were acquired. We considered three problems of classification including (A) normal vs...
2017: PloS One
https://www.readbyqxmd.com/read/28834558/abstracts
#19
E Cotzomi, K D Petschke, K C O'Connor, A D Paltiel
INTRODUCTION: The Inclusion Body Myositis (IBM) Registry at Yale is the largest systematic categorization of IBM, consolidating demographic, natural history, and clinical management data collected from 916 patients via a self-reporting questionnaire. OBJECTIVE/METHODS: To expand and improve registry resources. The registry aims to inform patients about IBM using online tools and information disseminated via social media. For clinicians and researchers, this project aims to establish a platform for longitudinal data collection and a patient biorepository to support laboratory research...
August 23, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28832350/which-nonautoimmune-myopathies-are-most-frequently-misdiagnosed-as-myositis
#20
Andrew L Mammen
PURPOSE OF REVIEW: To discuss the spectrum of nonautoimmune myopathies that may be misdiagnosed as autoimmune myopathy. RECENT FINDINGS: Inherited myopathies, such as dysferlinopathy, calpainopathy, and facioscapulohumeral dystrophy may be misdiagnosed as autoimmune myopathy, especially when they have inflammatory muscle biopsies. Inclusion body myositis is frequently misdiagnosed as polymyositis when rimmed vacuoles are absent on muscle biopsy, and a careful neuromuscular evaluation is not performed...
November 2017: Current Opinion in Rheumatology
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