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Total 442 results found since Jan 2013.
Muscle magnetic resonance imaging abnormalities in X‐linked myopathy with excessive autophagy
Conclusions: This study highlights a distinctive MRI pattern of muscle involvement, which can be helpful for diagnosis of XMEA, even before muscle biopsy or genetic analysis. Muscle Nerve, 2015
Source: Muscle and Nerve - June 3, 2015 Category: Internal Medicine Authors: Sandra Mercier, Armelle Magot, Florence Caillon, Bertrand Isidor, Albert David, Xavier Ferrer, Anne Vital, Michelle Coquet, Sini Penttilä, Bjarne Udd, Jean‐Marie Mussini, Yann Pereon Tags: Case of the Month Source Type: research
Craniopharyngioma presenting with severe hyponatremia, hyponatremia-induced myopathy, and panhypopituitarism: a case report
ConclusionsThis case illustrates the rare presentation of severe hyponatremia and hyponatremia-induced myopathy in patients with craniopharyngioma, awareness of which would facilitate early appropriate investigations and treatment.
Source: Journal of Medical Case Reports - February 4, 2017 Category: Journals (General) Source Type: research
Development of Necrotizing Myopathy Following Interstitial Lung Disease with Anti-signal Recognition Particle Antibody.
Authors: Kusumoto T, Okamori S, Masuzawa K, Asakura T, Nishina N, Chubachi S, Naoki K, Fukunaga K, Betsuyaku T
Abstract
A 72-year-old man was admitted due to dyspnea on exertion with interstitial shadows and elevated serum creatinine kinase (CK). Despite a close examination, which included magnetic resonance imaging (MRI), we could not diagnose myopathy. Prednisolone was administered and gradually tapered. One year later, anti-signal recognition particle (SRP) antibody was confirmed and he was re-admitted for hypoxemia with elevated CK. MRI revealed muscle edema and a histopathological examination of a muscle biops...
Source: Internal Medicine - March 3, 2018 Category: Internal Medicine Tags: Intern Med Source Type: research
Case of Anti–Single Recognition Particle–Mediated Necrotizing Myopathy After Influenza Vaccination
We reported a 28-year-old healthy woman presented with subacute onset ascending muscle weakness 2 weeks after an annual influenza vaccination. Cerebral Spinal Fluid study showed normal cell counts with elevated protein and nerve conduction study showed reduced diffuse compound muscle action potential amplitudes suggesting a diagnosis of Guillain–Barré syndrome. Despite treatment using intravenous immunoglobulin, her condition continued to get worse with new bulbar and respiratory muscle weakness. Eventually, the diagnosis of anti–single recognition particle–mediated necrotizing myopathy was made based on elevated cr...
Source: Journal of Clinical Neuromuscular Disease - May 26, 2018 Category: Neurology Tags: Case Review Source Type: research
Immune-mediated necrotizing myopathy due to statins exposure.
Authors: Villa L, Lerario A, Calloni S, Peverelli L, Matinato C, DE Liso F, Ceriotti F, Tironi R, Sciacco M, Moggio M, Triulzi F, Cinnante C
Abstract
Statin-induced necrotizing autoimmune myopathy (IMNM) is an autoimmune disorder induced by anti-3-hydroxy-3-methylglutaryl-coenzyme-A reductase (anti-HMGCR) antibodies. We performed a retrospective clinical, histological, and radiological evaluation of 5 patients with a 3-year therapeutic follow-up. All patients used statins and then experienced proximal weakness that persisted after drug cessation. Muscle biopsies revealed a primary necrotizing myopathy without infla...
Source: Acta Myologica - April 6, 2019 Category: Neurology Tags: Acta Myol Source Type: research
Inflammatory myopathy following acute meningoccemia in a properdin-deficient patient: A case report.
CONCLUSION: Post-infectious inflammatory myopathy should be suspected in case of severe and persistent myalgia associated with rhabdomyolysis following an IMD, after exclusion of pyomyositis especially. A short course of corticosteroids seems to be effective.
PMID: 31735371 [PubMed - as supplied by publisher]
Source: Revue de Medecine Interne - November 19, 2019 Category: Internal Medicine Tags: Rev Med Interne Source Type: research
Use of RNA ‑sequencing to detect abnormal transcription of the collagen α‑2 (VI) chain gene that can lead to Bethlem myopathy.
In conclusion, these findings may improve our knowledge of mutations of the COL6A2 gene associated with BM and demonstrated that RNA‑sequencing can be a powerful tool for finding the underlying mechanism of a disease‑causing mutations at a splice site.
PMID: 33537799 [PubMed - in process]
Source: International Journal of Molecular Medicine - February 6, 2021 Category: Molecular Biology Authors: Zhong J, Xie Y, Dang Y, Zhang J, Song Y, Lan D Tags: Int J Mol Med Source Type: research
Genes, Vol. 13, Pages 1991: Genetic and Clinical Spectrum of GNE Myopathy in Russia
r Polyakov
Elena Dadali
Sergey Kutsev
GNE myopathy (GNEM) is a rare hereditary disease, but at the same time, it is the most common distal myopathy in several countries due to a founder effect of some pathogenic variants in the GNE gene. We collected the largest cohort of patients with GNEM from Russia and analyzed their mutational spectrum and clinical data. In our cohort, 10 novel variants were found, including 2 frameshift variants and 2 large deletions. One novel missense variant c.169_170delGCinsTT (p.(Ala57Phe)) was detected in 4 families in a homozygous state and in 3 unrelated patients in a compound heteroz...
Source: Genes - October 31, 2022 Category: Genetics & Stem Cells Authors: Aysylu Murtazina Sergey Nikitin Galina Rudenskaya Inna Sharkova Artem Borovikov Peter Sparber Olga Shchagina Alena Chukhrova Oksana Ryzhkova Olga Shatokhina Anna Orlova Vasilisa Udalova Ilya Kanivets Sergey Korostelev Alexander Polyakov Elena Dadali Serge Tags: Article Source Type: research
P.14.10 Respiratory failure as presenting symptom of paraneoplastic necrotizing autoimmune myopathy
Necrotizing autoimmune myopathy (NAM) is associated with cancer, connective tissue disorders, and statin use. Respiratory failure as a presenting symptom has been reported in rare cases of other inflammatory myopathies, but not in NAM. A 48-year-old woman was acutely admitted with severe hypercapnia which required immediate endotracheal intubation. History revealed that she experienced shortness of breath since one month. Her past medical history included a mastectomy 2years prior to admission, because of noninvasive ductal mammacarcinoma. On admission there was mild symmetrical proximal weakness of her arms and legs and s...
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: B. Jaeger, M. de Visser, E. Aronica, A.J. van der Kooi Source Type: research
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations
Conclusions:
HFP with tendon contractures, myopathy and pulmonary fibrosis, is a multisystemic disorder due to autosomal dominant FAM111B mutations. Future functional studies will help in understanding the specific pathological process of this fibrosing disorder.
Source: Orphanet Journal of Rare Diseases - October 15, 2015 Category: Internal Medicine Authors: Sandra MercierSébastien KüryEmmanuelle Salort-CampanaArmelle MagotUchenna AgbimThomas BesnardNathalie BodakChantal Bou-HannaFlora BréhéretPerrine BrunelleFlorence CaillonBrigitte ChabrolValérie Cormier-DaireAlbert DavidBruno EymardLaurence FaivreDomi Source Type: research
Altered TDP ‐43‐dependent splicing in HSPB8‐related distal hereditary motor neuropathy and myofibrillar myopathy
ConclusionsOur study confirmed the role of mutated HSPB8 as a cause of a combined neuromuscular disorder encompassing dHMN and MFM with protein aggregates. We identified impaired RNA metabolism, secondary to TDP‐43 loss of function, as a possible pathological mechanism of HSPB8K141E toxicity, leading to muscle and nerve degeneration.
Source: European Journal of Neurology - December 2, 2017 Category: Neurology Authors: A. Cortese, M. Laur à, C. Casali, I. Nishino, Y. K. Hayashi, S. Magri, F. Taroni, C. Stuani, P. Saveri, M. Moggio, M. Ripolone, A. Prelle, C. Pisciotta, A. Sagnelli, A. Pichiecchio, M. M. Reilly, E. Buratti, D. Pareyson Tags: Original Article Source Type: research
Muscle Magnetic Resonance Imaging for the Differentiation of Multiple Acyl-CoA Dehydrogenase Deficiency and Immune-mediated Necrotizing Myopathy.
CONCLUSION: Different patterns of muscle involvement on tMRI can contribute to differential diagnosis between MADD and IMNM when clinical suspicions alone are insufficient, thereby reducing the need for muscle biopsy.
PMID: 29336361 [PubMed - in process]
Source: Chinese Medical Journal - January 19, 2018 Category: General Medicine Authors: Zhao YW, Liu XJ, Zhang W, Wang ZX, Yuan Y Tags: Chin Med J (Engl) Source Type: research
Rituximab in the Treatment of Refractory Anti-HMGCR Immune-mediated Necrotizing Myopathy.
CONCLUSION: One-third of patients with refractory anti-HMGCR had improved strength or other evidence of improved disease activity following RTX treatment.
PMID: 30554155 [PubMed - as supplied by publisher]
Source: Journal of Rheumatology - December 17, 2018 Category: Rheumatology Tags: J Rheumatol Source Type: research
Review: 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 - January 12, 2019 Category: Allergy & Immunology Source Type: research
