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Total 442 results found since Jan 2013.

Myositis-specific autoantibodies, a cornerstone in immune-mediated necrotizing myopathy
Publication date: Available online 11 January 2019Source: Autoimmunity ReviewsAuthor(s): Céline Anquetil, Olivier Boyer, Nadège Wesner, Olivier Benveniste, Yves AllenbachAbstractOver the past few years, myositis-specific autoantibodies played an increasing role in the inflammatory idiopathic myositis definition. They became the critical immunological marker for immune-mediated necrotizing myopathy diagnosis (IMNM) since the paradigm switch from histological to serological criteria.This review is focused on the key role of the anti-signal recognition particle (anti-SRP) and the anti-3-Hydroxy-3-MethylGlutaryl-Coenzyme A R...
Source: Autoimmunity Reviews - February 26, 2019 Category: Allergy & Immunology Source Type: research

Anti-signal Recognition Particle Antibody-positive Necrotizing Myopathy with Secondary Cardiomyopathy: The First Myocardial Biopsy- and Multimodal Imaging-proven Case.
Authors: Takeguchi-Kikuchi S, Hayasaka T, Katayama T, Kano K, Takahashi K, Saito T, Sawada J, Minoshima A, Sakamoto N, Akasaka K, Miyokawa N, Nishino I, Ishibashi-Ueda H, Hasebe N Abstract A 69-year-old Japanese woman was admitted to our hospital with progressive muscle weakness and dysphagia. She was taking pitavastatin for dyslipidemia. Her serum creatine kinase was 6,300 U/L. Pitavastatin was stopped, but her symptoms deteriorated, and cardiac congestion appeared. A muscle biopsy showed necrotizing myopathy (NM), and anti-signal recognition particle (SRP) antibody was positive. 18F-fluorodeoxyglucose-positron em...
Source: Internal Medicine - July 13, 2019 Category: Internal Medicine Tags: Intern Med Source Type: research

Subclinical Cardiomyopathy in Miyoshi Myopathy Detected by Late Gadolinium Enhancement Cardiac Magnetic Resonance Imaging.
We present a case of a patient with MM incidentally diagnosed with concomitant cardiomyopathy. PMID: 33518658 [PubMed - in process]
Source: International Heart Journal - February 2, 2021 Category: Cardiology Tags: Int Heart J Source Type: research

P035  Inflammatory myopathy and metabolic disorders causing myopathies
Conclusion This lady was initially managed as inflammatory myopathy but did not respond to high dose methylprednisolone. There were atypical features including normal inflammatory markers, MRI thighs showing predominantly fatty infiltration and muscle atrophy and the muscle biopsy with abundant lipid accumu lation suggestive of a metabolic disorder. We are awaiting full results of genetic testing. This case is a reminder of the importance of tissue diagnosis and reassessing the initial diagnosis if the clinical picture changes or patients do not respond as expected to treatment.Disclosure M. Malik: None.A. Mason: None....
Source: Rheumatology - April 26, 2021 Category: Rheumatology Source Type: research

A novel variant of COL6A3 c.6817-2(IVS27)A > G causing Bethlem myopathy: A case report
This study presents a 50-year-old female patient with symptoms of facial weakness beginning in childhood and with the slow progression of the disease with age. At the age of 30 years, the patient presented with asymmetrical proximal muscle weakness, and the neurological examination revealed bilateral facial weakness and a positive Beevor's sign. Phosphocreatine kinase was slightly elevated with electromyography showing myopathic changes and magnetic resonance imaging (MRI) of the lower limb muscles showing the muscle MRI associated with collagen VI (COL6)-related myopathy (COL6-RM). The whole-genome sequencing technology i...
Source: Frontiers in Neurology - January 27, 2023 Category: Neurology Source Type: research

G.P.262: Selectivity patterns on lower limb skeletal muscle imaging in patients with nemaline myopathy
In this study, we aimed to clarify the relationship between genotype and imaging phenotype in NM. Twelve patients (median age, 4.8years) who visited the Department of Pediatric Neurology at NCNP hospital and were diagnosed with NM by muscle biopsy between 2005 and 2013 were studied. The direct sequence of ACTA1 was initially analyzed in all patients. Then, a next generation sequence was performed for the other cases detected no mutations in ACTA1. Magnetic resonance imaging (MRI) of the lower limb skeletal muscles was performed before muscle biopsy in all patients. We classified the patients into 3 groups according to the ...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: M. Okubo, A. Ishiyama, H. Komaki, E. Takeshita, T. Saito, Y. Saito, E. Nakagawa, K. Sugai, Y.K. Hayashi, I. Nishino, M. Sasaki Source Type: research

Muscle magnetic resonance imaging and histopathology in ACTA1‐related congenital nemaline myopathy
Conclusions: We highlight the contribution of muscle imaging in addressing the genetic diagnosis of ACTA1‐related NM. Muscle Nerve, 2014
Source: Muscle and Nerve - October 30, 2014 Category: Internal Medicine Authors: Claudia Castiglioni, Denis Cassandrini, Fabiana Fattori, Emanuele Bellacchio, Adele D'Amico, Karin Alvarez, Roger Gejman, Jorge Diaz, Filippo M. Santorelli, Norma B. Romero, Enrico Bertini, Jorge A. Bevilacqua Tags: Case of the Month Source Type: research

Unilateral Symptomatic Intracranial Arterial Stenosis and Myopathy in an Adolescent with Graves Disease: A Case Report of an High-resolution Magnetic Resonance Imaging Study
Vascular and muscular involvements in Graves disease (GD) are rare. Here, we report a case of a 17-year-old patient with unilateral symptomatic middle cerebral artery stenosis concurrent with GD and myopathy. He presented with a 1-day history of acute severe right-sided hemiparesis and aphasia and a 3-week history of high metabolic syndrome. The pathogenesis of the stenosis is most likely vasculitis rather than atherosclerosis, based on contrast-enhanced high-resolution magnetic resonance imaging showing concentric wall enhancement.
Source: Journal of Stroke and Cerebrovascular Diseases - November 8, 2014 Category: Neurology Authors: Jia Yin, Jiajia Zhu, Dongling Huang, Changzheng Shi, Yuqing Guan, Liang Zhou, Suyue Pan Tags: Case Report Source Type: research

Mitochondrial Myopathy, Cardiomyopathy, and Pontine Signal Changes in an Adult Patient With Isolated Complex II Deficiency
This report describes a patient who presented with myopathy, dilated cardiomyopathy, and pontine signal changes on magnetic resonance imaging. Muscle biopsy showed total absence of succinate dehydrogenase on enzyme histochemistry, negative succinate dehydrogenase subunit A (SDHA) activity on immunohistochemistry, and ultrastructural evidence of mitochondrial aggregates of varying sizes confirming the diagnosis of complex II deficiency. A unique phenotype with complex II deficiency is reported.
Source: Journal of Clinical Neuromuscular Disease - November 22, 2014 Category: Neurology Tags: Short Report Source Type: research

Whole‐body muscle magnetic resonance imaging in SEPN1‐related myopathy shows a homogeneous and recognizable pattern
Conclusions: WBMRI scoring of altered signal and atrophy in muscle can be represented by heatmaps and is associated with a homogeneous, recognizable pattern in SEPN1‐RM, distinct from other genetic muscle diseases. Muscle Nerve, 2015
Source: Muscle and Nerve - September 14, 2015 Category: Internal Medicine Authors: Karolina Hankiewicz, Robert Y. Carlier, Leila Lazaro, Javier Linzoain, Christine Barnerias, David Gómez‐Andrés, Daniela Avila‐Smirnow, Ana Ferreiro, Brigitte Estournet, Pascale Guicheney, Dominique P. Germain, Pascale Richard, Sebastian Bulacio, Dom Tags: Research Article Source Type: research

Pediatric laminopathies: Whole‐body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy
ConclusionsA selective pattern in WB‐MRI for pediatric LMNA‐RD exists and can be differentiated from SEPN1‐RM by machine learning. Muscle Nerve, 2015
Source: Muscle and Nerve - February 22, 2016 Category: Internal Medicine Authors: David Gómez‐Andrés, Ivana Dabaj, Dominique Mompoint, Karolina Hankiewicz, Viviane Azzi, Christine Ioos, Norma B. Romero, Rabah Yaou, Jean Bergounioux, Giséle Bonne, Pascale Richard, Brigitte Estournet, Robert Yves‐Carlier, Susana Quijano‐Roy Tags: Research Article Source Type: research

Pediatric laminopathies: Whole ‐body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy
ConclusionsA selective pattern in WB‐MRI for pediatric LMNA‐RD exists and can be differentiated from SEPN1‐RM by machine learning. Muscle Nerve 54: 192–202, 2016
Source: Muscle and Nerve - February 21, 2016 Category: Internal Medicine Authors: David G ómez‐Andrés, Ivana Dabaj, Dominique Mompoint, Karolina Hankiewicz, Viviane Azzi, Christine Ioos, Norma B. Romero, Rabah Yaou, Jean Bergounioux, Giséle Bonne, Pascale Richard, Brigitte Estournet, Robert Yves‐Carlier, Susana Quijano‐Roy Tags: Research Article Source Type: research

Muscle magnetic resonance imaging involvement in mitochondrial myopathy due to TK2 deficiency
Mutations in thymidine kinase-2 (TK2) gene cause an early onset mitochondrial myopathy, characterized by generalized hypotonia and proximal muscle weakness, with a progressive deterioration of respiratory function. Diagnosis is suspected in patients with increased CK levels, specific histological findings, decreased mitochondrial chain activity complexes and reduced mitochondrial DNA content. Definite diagnosis needs the identification of mutations in both alleles of the TK2 gene. Unlike other inherited myopathies, whole body MRI (wbMRI) has not been used to guide diagnosis.
Source: Neuromuscular Disorders - September 10, 2016 Category: Neurology Authors: A. S ánchez-Montañez, E. Martínez-Sáez, M. Gómez García de la Banda, N. Julià, S. Quijano-Roy, M. Olivé, E. García-Arumí, M. Gratacós, J. Buendía, I. Delgado, E. Vázquez, M. Roig, F. Munell Source Type: research

Added value of electromyography in the diagnosis of myopathy: A consensus exercise
It is widely accepted that the electrodiagnostic (EDX) evaluation of muscle disorders is useful in detecting myopathic changes in the muscles and to exclude differential diagnoses (Fuglsang-Frederiksen, 2006; Liguori et al., 1997; Schoser, 2016). However, neurologists may not refer patients with suspected myopathy to EDX, but rely on results from blood biomarkers (as creatine kinase), muscle biopsy, genetic testing, and magnetic resonance imaging (MRI) (Anthonisen et al., 2005; Paganoni and Amato, 2013).
Source: Clinical Neurophysiology - February 12, 2017 Category: Neuroscience Authors: K. Pugdahl, B. Johnsen, H. Tankisi, J.P. Camdessanch é, M. de Carvalho, P.R.W. Fawcett, A. Labarre-Vila, R. Liguori, W. Nix, I. Schofield, A. Fuglsang-Frederiksen Source Type: research

Family with Ehlers & #8211;Danlos syndrome (combined classic and vascular type) with rare presentation of progressive myopathy and unusual association of severe facial and trigeminal motor weakness
This report presents the rare combination of classic and vascular type of EDS primarily presenting as muscle weakness and associated with facial and trigeminal motor weakness.
Source: Neurology India - May 9, 2017 Category: Neurology Authors: A Nalini N Devaraddi N Gayathri Chandrajit Prasad V Preethish-Kumar K Polavarapu S Shantanu Source Type: research