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Total 42 results found since Jan 2013.

Characterization of Isolated Amyloid Myopathy
ConclusionsIsolated amyloid myopathy accounts for 27% of patients with amyloid myopathy, and mostly due to anoctaminopathy‐5. There are various clinical and laboratory parameters that can help differentiating isolated amyloid myopathy from systemic amyloidosis.This article is protected by copyright. All rights reserved.
Source: European Journal of Neurology - September 9, 2017 Category: Neurology Authors: Teerin Liewluck, Margherita Milone Tags: Original Article Source Type: research

Three cases of immune ‐mediated necrotizing myopathy with anti‐signal recognition particle antibodies: Extramuscular symptoms preceding progressive muscle weakness
ConclusionsAll three patients visited the internal medicine department before the neurology department. It is important to consider anti ‐SRP myopathy as a differential diagnosis for patients presenting with elevated creatine kinase levels and extramuscular symptoms.
Source: Clinical and Experimental Neuroimmunology - November 21, 2018 Category: Neurology Authors: Yusuke Seino, Takumi Nakamura, Mie Hirohata, Takeshi Kawarabayashi, Mikio Shoji Tags: Case Report Source Type: research

Chloroquine and Hydroxychloroquine Myopathy: Clinical Spectrum and Treatment Outcomes
Chloroquine (CQ) and hydroxychloroquine (HCQ) have been associated with muscle toxicity, mostly described as a proximal myopathy with evidence of lysosomal dysfunction on muscle biopsy. In this retrospective study, we aimed to define the clinical phenotype, laboratory features, and treatment outcomes of CQ/HCQ myopathy, as well as the safety profile of these drugs. We identified 13 patients seen between 2000 and 2019, with a median age at presentation of 66 years (range 53–89); 11 were females. At onset of symptoms, patients were on CQ or HCQ for a minimum of 6 months and up to 21 years. Diagnosis was often delayed by a ...
Source: Frontiers in Neurology - February 2, 2021 Category: Neurology Source Type: research

175 A case series of anti-HMGCR immune mediated necrotizing myopathy: the West Midlands data
Conclusion Anti-HMGCR IMNM, especially when associated with statin, responds well to immunotherapy. We suggest having a low threshold for checking anti-HMGCR antibody in patients with persistently high CK levels and/or proximal limb/pharyngeal muscle weakness, especially in the presence of statin exposure.
Source: Journal of Neurology, Neurosurgery and Psychiatry - August 12, 2022 Category: Neurosurgery Authors: San, P. P., Davies, N., Srinivasan, V., Samra, A., Paluri, S., Ubben, S., Kumar, P., Kiolachidis, K., Dhar, S., Moor, C.-C. Tags: Poster presentations Source Type: research

Large vessel vasculitis: a rare cause of isolated lower limb myopathy
Conclusions A thorough work up led to the diagnosis of polyarteritis nodosa as the cause of this patient’s isolated lower limb myopathy. No literature was found on this rare presentation of vasculitis.
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 8, 2017 Category: Neurosurgery Authors: El-Wahsh, S., Weerasinghe, D., McDougall, A. Tags: Abstracts Source Type: research

Immune Myopathy With Perimysial Pathology Associated With Interstitial Lung Disease and Anti-EJ Antibodies
Conclusions: Our case adds to the growing spectrum of inflammatory myopathies and highlights the importance of performing a comprehensive, multisystem workup.
Source: Journal of Clinical Neuromuscular Disease - May 24, 2017 Category: Neurology Tags: Case Review Source Type: research

Fibroblast Growth Factor 21 Drives Dynamics of Local and Systemic Stress Responses in Mitochondrial Myopathy with mtDNA Deletions.
We report that in mitochondrial myopathy, ISRmt progresses in temporal stages and development from early to chronic and is regulated by autocrine and endocrine effects of FGF21, a metabolic hormone with pleiotropic effects. Initial disease signs induce transcriptional ISRmt (ATF5, mitochondrial one-carbon cycle, FGF21, and GDF15). The local progression to 2nd metabolic ISRmt stage (ATF3, ATF4, glucose uptake, serine biosynthesis, and transsulfuration) is FGF21 dependent. Mitochondrial unfolded protein response marks the 3rd ISRmt stage of failing tissue. Systemically, FGF21 drives weight loss and glucose preference, and mo...
Source: Cell Metabolism - September 8, 2019 Category: Cytology Authors: Forsström S, Jackson CB, Carroll CJ, Kuronen M, Pirinen E, Pradhan S, Marmyleva A, Auranen M, Kleine IM, Khan NA, Roivainen A, Marjamäki P, Liljenbäck H, Wang L, Battersby BJ, Richter U, Velagapudi V, Nikkanen J, Euro L, Suomalainen A Tags: Cell Metab Source Type: research

Bariatric surgery related proximal myopathy: A partially reversible complication
We report cases of five patients with morbid obesity who developed within 2 to 4 months of a BS, proximal myopathy following significant and rapid weight loss worsened by postoperative gastrointestinal complications. Muscle weakness concerned lower limbs in particular in quadriceps and less frequently in upper limbs and diaphragm, sometimes mimicked a Guillain-Barré syndrome. Muscle biopsy performed in 1 patient, revealed selective atrophy of type 2 fibers. Weakness slowly decreased with refeeding with vitamins supplementation. We enlarge here the clinical pattern of post-BS complications.PMID:33640114 | DOI:10.1016/j.neurol.2020.10.012
Source: Revue Neurologique - February 28, 2021 Category: Neurology Authors: M Brisset M C Durand A Iosif M Hanachi C Palazzo R-Y Carlier P Lafor êt G Nicolas Source Type: research

A vascular smooth muscle-specific integrin- α8 Cre mouse for lymphatic contraction studies that allows male-female comparisons and avoids visceral myopathy
Discussion: Our results demonstrate that Itga8-CreERT2 can be used to effectively delete genes in lymphatic smooth muscle while avoiding potentially lethal visceral myopathy and allowing comparative studies of lymphatic contractile function in both male and female mice.
Source: Frontiers in Physiology - January 12, 2023 Category: Physiology Source Type: research

P039  Muscle wasting & amp; weakness: a rare presentation of sarcoidosis
Conclusion Symptomatic myopathy is present in only 0.5-2.5% of sarcoidosis patients. This unique case highlights the heterogeneity of this disease and the vital role different diagnostic modalities play in achieving the correct diagnosis. It is also pertinent that the lymphadenopathy, found incidentally via imaging, led to the diagnosis. Although notoriously a diagnosis of exclusion, this case emphasises the importance of considering sarcoidosis even in the absence of respiratory symptoms, a raised ACE or hypercalcaemia.Disclosure C. Tomlinson: None.A. Khan: None.D. Mukerjee: None.N. Bhadauria: None.
Source: Rheumatology - April 26, 2021 Category: Rheumatology Source Type: research

Effects of different aerobic exercise frequencies on  streptozotocin‐nicotinamide‐induced type 2 diabetic rats: continuous versus short bouts and weekend warrior exercises
ConclusionsThe results of our study emphasized the impact of training on inflammation, increased oxidative stress, myopathy and mitochondrial damage in the rat model of streptozotocin‐nicotinamide‐induced T2DM, and demonstrated that there is no major difference between exercise modalities provided that the total duration of exercise remains the same.
Source: Journal of Diabetes - April 20, 2017 Category: Endocrinology Authors: Nuray Alaca, Serap Uslu, Guldal Gulec Suyen, Umit Ince, Mustafa Serteser, H ızır Kurtel Tags: Original Article Source Type: research

Effects of different aerobic exercise frequencies on streptozotocin –nicotinamide‐induced type 2 diabetic rats: Continuous versus short bouts and weekend warrior exercises
ConclusionsThe results of the study emphasize the effects of training on inflammation, increased oxidative stress, myopathy, and mitochondrial damage in a rat model of T2DM, and demonstrate that there is no major difference between exercise modalities provided that the total duration of exercise remains the same.
Source: Journal of Diabetes - June 2, 2017 Category: Endocrinology Authors: Nuray Alaca, Serap Uslu, Guldal Gulec Suyen, Umit Ince, Mustafa Serteser, H ızır Kurtel Tags: Original Article Source Type: research

Inducible expression of human C9ORF72 36x G4C2 hexanucleotide repeats is sufficient to cause RAN translation and rapid muscular atrophy in mice RESEARCH ARTICLE
In conclusion, expression of 36x pure G4C2 repeats including 100-bp human flanking regions is sufficient for RAN translation of sense DPRs, and evokes a functional locomotor phenotype. Our inducible mouse model suggests that early diagnosis and treatment are important for C9FTD/ALS patients. This article has an associated First Person interview with the first author of the paper.
Source: DMM Disease Models and Mechanisms - February 16, 2021 Category: Biomedical Science Authors: Riemslagh, F. W., van der Toorn, E. C., Verhagen, R. F. M., Maas, A., Bosman, L. W. J., Hukema, R. K., Willemsen, R. Tags: Neurodegenerative disorders, Neuromuscular RESEARCH ARTICLE Source Type: research

Case Report: Digital Ulcers & Weight Loss in a Pediatric Patient
Juvenile dermatomyositis (JDM) is a childhood form of inflammatory myopathy affecting children younger than 18 years. The diagnosis of JDM is based on characteristic clinical features of proximal muscle weakness, skin rash, elevated muscle enzymes, magnetic resonance imaging and muscle biopsy.1 Autoantibodies seen in patients with inflammatory myopathy are not only associated with particular phenotypes... [Read More]
Source: The Rheumatologist - June 13, 2021 Category: Rheumatology Authors: Anusha Vuppala, MD, & Sarwat Umer, MD Tags: Conditions interstitial lung disease (ILD) juvenile dermatomyositis Pediatric Source Type: research

Chronic intestinal pseudo-obstruction.
Abstract Chronic intestinal pseudo-obstruction (CIP) is a rare and serious disorder of the gastrointestinal (GI) tract characterized as a motility disorder with the primary defect of impaired peristalsis; symptoms are consistent with a bowel obstruction, although mechanical obstruction cannot be identified. CIP is classified as a neuropathy, myopathy, or mesenchymopathy; it is a neuropathic process in the majority of patients. The natural history of CIP is generally that of a progressive disorder, although occasional patients with secondary CIP note significant symptomatic improvement when the underlying disorder ...
Source: Nutrition in Clinical Practice - May 25, 2013 Category: Nutrition Authors: Gabbard SL, Lacy BE Tags: Nutr Clin Pract Source Type: research