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Total 42 results found since Jan 2013.

Weight Loss, Muscular Dystrophy And Other Myopathies
Rationale: Weight loss, in a young person without patology, is usually associated with anorexia nervosa. If this person has an elevated creatine phosphokinase (CPK) we could think in a congenital metabolic disease. If we put together, sarcopenia with elevated CPK, we must review the diagnosis of myopathy.
Source: Clinical Nutrition ESPEN - March 23, 2023 Category: Nutrition Authors: M.D. Gosalbez, M. Diez, I. Tejado, J. Pi, A. Fontalba, L. Riancho, J. Riancho Source Type: research

Pneumomediastinum, pneumatosis intestinalis and pneumoperitoneum in a patient with polymyositis: case-based review
We present a 59-year-old polymyositis (PM) patient who experienced all three complications simultaneously. The patient who presented with proximal muscle weakness, dysphagia, and weight loss was diagnosed with PM due to elevated muscle enzymes and consistent electromyography and muscle biopsy with inflammatory myopathy. On the 45th day of her immunosuppressive treatment, PnM, PI, and PP were detected incidentally in18F-fluorodeoxyglucose (FDG) positron emission tomography (PET)/computed tomography (CT) scan performed for severe weight loss and treatment-resistant severe disease. Since the patient had no symptoms or signs o...
Source: Rheumatology International - March 12, 2023 Category: Rheumatology 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

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

064 Imilimumab/nivolumab induced paraspinal myositis causing dysphagia
We present a case of Imilimumab/Nivolumab-induced posterior paraspinal muscles myositis. A 78 year-old man with metastatic melanoma with hepatic, osseous, and lymph node spread had 3 weeks of dysphagia to solids but not liquids, 2 months after his last cycle of immunotherapy. He complained of hoarse voice, weight loss, unsteadiness and falls. Examination revealed symmetrical, normal palatal rise without tongue wasting or fasciculation. Speech was hypernasal with poor pharyngeal phonation. There was no fatigue nor ptosis nor extra-ocular motor weakness. Small muscle hand wasting was modest in keeping with general cachexia. ...
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Warner, G. Tags: Poster Presentations Source Type: research

Neuromuscular junction related disorders
Among idiopathic inflammatory myopathies (IIM), brachio-cervical inflammatory myopathy (BCIM) constitutes a rare entity basically characterized by progressive weakness in the proximal regions of the arms and neck, the frequent association with other autoimmune diseases, and peculiar histopathological features at muscle biopsy. A 57-year-old woman presented with a 1-yr history of weight loss (-10kg), cervicalgia, bulbar signs and weakness in upper limbs. Clinical examination showed drop head with cervical muscle atrophy, severe proximal muscle weakness in upper limbs and nasal voice with swallowing disorders.
Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: S. Souvannanorath, T. Nordine, T. Gendre, J. Lefaucheur, V. Plante-Bordeneuve, J. Authier Source Type: research

Severe onset of inflammatory myositis in a child: think to paraneoplastic myositis
ConclusionsAmong cancer-associated autoantibodies (CAAs) in adult patients, anti-TIF1- γ carries the highest risk of CAM, which recognizes with a high likelihood a paraneoplastic pathogenesis. In children, anti-TIF1-γ antibody has been associated with severe cutaneous disease, lipodystrophy, and chronic disease course, but not with CAM, which is overall rare in younger patients. Sev ere onset of a JIIM, especially if anti-TIF1-γ antibody positive, should prompt suspect of a CAM and lead to a screening for malignancy.
Source: Italian Journal of Pediatrics - July 1, 2021 Category: Pediatrics Source Type: research

Nicotinamide Riboside Vitamin B3 Mitigated C26 Adenocarcinoma –Induced Cancer Cachexia
In this study, we investigated whether preemptive administration of NR ameliorated C26 adenocarcinoma–induced cancer cachexia and explored anti-cachexic mechanisms focused on the changes in muscle atrophy, cachexic inflammation, and catabolic catastrophe. Dietary intake of the NR-containing pellet diet significantly attenuated cancer cachexia in a mouse model. Starting with significant inhibition of cachexic factors, tumor necrosis factor alpha, and interleukin-6, NR significantly inhibited muscle-specific ubiquitin-proteasome ligases, such as atrogin-1, muscle RING-finger protein-1 (MuRF-1), mitofusin-2, and peroxisome ...
Source: Frontiers in Pharmacology - June 28, 2021 Category: Drugs & Pharmacology 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

Unabridged histoplasmosis myositis: Unsolved dissemination with diagnostic challenge
Gurparvesh S Goraya, Guneet Sidhu, Updesh Sidhu, Birinder S Paul, Gunchan PaulAnnals of Indian Academy of Neurology 2021 24(2):239-242 Histoplasmosis occurs predominantly in immunocompromised hosts and typically presents with mild constitutional symptoms, weight loss, weakness, fatigability, hepatosplenomegaly, and lymphadenopathy. The diagnosis is generally delayed and is based upon isolating the organism in blood cultures or by identifying intracellular organisms in tissues. Disseminated Histoplasmosis is well described in HIV patients but Histoplasmosis myositis is a rare manifestation and has not been reported in sero...
Source: Annals of Indian Academy of Neurology - April 28, 2021 Category: Neurology Authors: Gurparvesh S Goraya Guneet Sidhu Updesh Sidhu Birinder S Paul Gunchan Paul 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

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

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

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