Filtered By:
Procedure: MRI Scan

This page shows you your search results in order of relevance.

Order by Relevance | Date

Total 442 results found since Jan 2013.

G.P.40: Skeletal muscle MRI in an X-linked myotubular myopathy patient who became ambulatory
We present the magnetic resonance imaging (MRI) findings of both upper and lower limbs in an XLMTM patient, who survived with Non-invasive Positive Pressure Ventilation (NPPV) support and ultimately became ambulatory. The patient was a 12-year old boy. His older brother, who also had XLMTM, had died during infancy. The patient presented with reduction of fetal movements, and had needed artificial respirator support at birth. He was genetically diagnosed as having XLMTM. Although he suffered repeated exacerbations of respiratory failure due to infection, the frequency of mechanical ventilation decreased after the initiation...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: M. Shichiji, K. Ishigaki, T. Murakami, T. Sato, S. Kajino, M. Osawa, S. Nagata, K. Saito Source Type: research

G.p.40
We present the magnetic resonance imaging (MRI) findings of both upper and lower limbs in an XLMTM patient, who survived with Non-invasive Positive Pressure Ventilation (NPPV) support and ultimately became ambulatory.
Source: Neuromuscular Disorders - October 1, 2014 Category: Neurology Authors: , K. Ishigaki, T. Murakami, T. Sato, S. Kajino, M. Osawa, S. Nagata, K. Saito Source Type: research

Characterization and genetic diagnosis of centronuclear myopathies in seven Chinese patients
AbstractCentronuclear myopathies (CNMs) are a group of clinically and genetically heterogeneous muscle disorders. Here, we report a cohort of seven CNM patients with their clinical, histological, and morphological features. In addition, using the next-generation sequencing (NGS) technique (5/7 patients), we identified small indels: intronic, exonic, and missense mutations inMTM1,DNM2, andRYR1 genes. Further genetic studies revealed skewed X-chromosome inactivation in two female patients carryingMTM1 mutations. Based on the results of genetic analysis, these seven patients were classified as (1) X-linked recessive myotubula...
Source: Neurological Sciences - September 19, 2018 Category: Neurology Source Type: research

Autism in the Son of a Woman with Mitochondrial Myopathy and Dysautonomia: A Case Report
Conclusion Given emerging evidence that mitochondrial dysfunction, particularly in the electron transport chain needed for cellular energy production, is an underlying pathophysiological mechanism for some varieties of ASD, clinicians should have a high index of suspicion for mitochondrial disease, especially when they encounter a patient with unusual neurological or constitutional symptoms. The prevalence of mitochondrial disease in ASD patients may be as high as five percent, which means that it is not the “zebra”[27] diagnosis that it might be in a non-ASD patient, where prevalence is about 0.01 percent.10 Reference...
Source: Innovations in Clinical Neuroscience - October 9, 2015 Category: Neuroscience Authors: ICN Online Editor Tags: Anxiety Disorders Asperger's syndrome Autism Behavioral and Cognitive Neurology Case Report Current Issue Intellectual Disability Neurologic Systems and Symptoms Pervasive Developmental Disorders ASD autism spectrum disorder dysauton Source Type: research

Polyneuropathy and myopathy in beta-thalassemia major patients
AbstractThe thalassemias are the most common single gene disorder in the world. Nowadays, the average life expectancy of patients in developed countries has increased significantly, while, there was an increase of complications. We aimed to investigate peripheral neuropathy and myopathy in this patient group using a neurophysiological study. We performed nerve conduction studies and electromyography of upper and lower extremities on 36 beta-thalassemia major ( β-thal) patients. The electrophysiological findings were correlated with demographic data and laboratory parameters of the disease. Patients with β-thal present po...
Source: Annals of Hematology - March 29, 2018 Category: Hematology Source Type: research

Immune Mediated Necrotizing Myopathy: A Cause of Isolated Myopathy of Neck Extensor Muscle.
Abstract Immune mediated necrotizing myopathy (IMNM) is a unique form of myositis that is characterized by distinct muscle biopsy features including abundant myofiber necrosis, degeneration, and regeneration with only minimal, if any, inflammation on muscle biopsy. IMNM is clinically similar to idiopathic inflammatory myopathy (IIM); hence, muscle biopsy is essential to diagnose IMNM. Herein we describe a case of neck extensor weakness due to necrotizing myopathy. Isolated weakness of the neck extensor muscles is uncommon in IIM and IMNM. This case describes the diagnostic work-up, treatments utilized, and 2 year ...
Source: Clinical Medicine and Research - August 28, 2016 Category: Journals (General) Authors: Sehgal R, Medina-Flores R, Yachoui R, Kenney C Tags: Clin Med Res Source Type: research

Non-GNE Quadriceps Sparing Distal Myopathy in an Iranian Jewish Patient
We report a 52-year-old IJ woman who presented with a 20-year history of progressive distal muscle weakness. Physical examination and magnetic resonance imaging revealed lower-extremity weakness and atrophy. Electromyography confirmed myopathy. Genetic testing showed no mutations on the GNE gene. Muscle histochemistry demonstrated no rimmed vacuoles. The analysis of polysialylated neural cell adhesion molecule Western blot pattern was negative. Non-GNE myopathy with quadriceps sparing presentation has been previously described in a few cases of non-IJ descents. To the best of our knowledge, this is the first case of an IJ ...
Source: Journal of Clinical Neuromuscular Disease - May 28, 2019 Category: Neurology Tags: Short Report Source Type: research

Whole-body muscle MRI of patients with MATR3-associated distal myopathy reveals a distinct pattern of muscular involvement and highlights the value of whole-body examination
AbstractObjectiveMATR3-associated distal myopathy is a rare distal myopathy predominantly affecting lower legs as well as wrist- and finger extensors. Whilst most distal myopathies are clinically and genetically well characterized, diagnosis often remains challenging. Pattern-based magnetic resonance imaging (MRI) approaches offer valuable additional information. However, a consistent pattern of muscular affection is missing for most distal myopathies. Thus, the aim of the present study was to establish a disease-specific pattern of muscular involvement in MATR3-associated distal myopathy using whole-body MRI.Methods15 pat...
Source: Journal of Neurology - May 1, 2020 Category: Neurology Source Type: research

A case report: identification of a novel exon 1 deletion mutation in the GNE gene in a Chinese patient with GNE myopathy
We describe the case of a 32-year-old woman with GNE myopathy. The patient presented with progressive weakness of the lower-limb muscles that had spread to her legs. Her serum creatine kinase level was higher than the normal range. Mild myogenic changes were detected in the tibialis anterior muscles on electromyography, and moderate fatty infiltration was observed in various lower-limb muscles on magnetic resonance imaging. Histopathological examination of a skeletal muscle biopsy specimen revealed variation in muscle fiber size, rimmed vacuoles, and disorganized intermyofibrillar networks. DNA sequencing testing revealed ...
Source: Medicine - October 9, 2020 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

Differences in muscle magnetic resonance imaging findings between anti-signal recognition particle antibody-positive myopathy and anti-aminoacyl-tRNA synthetase antibody-positive myositis
CONCLUSIONS: A comparison of thigh MRI between anti-SRP myopathy and anti-ARS myositis showed different findings and lesion sites reflecting the different pathophysiology that may contribute to their diagnosis.PMID:37497714 | DOI:10.55563/clinexprheumatol/fjfkfs
Source: Clinical and Experimental Rheumatology - July 27, 2023 Category: Rheumatology Authors: Masatoshi Kimura Ayako Aizawa Risa Kudou Yuki Rikitake Chihiro Iwao Mao Rikitake Kousho Iwao Yumi Kariya Takeshi Kawaguchi Motohiro Matsuda Shunichi Miyauchi Ichiro Takajo Kunihiko Umekita Source Type: research