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Total 11221 results found since Jan 2013.

Anti-Ku antibody-positive systemic sclerosis and idiopathic inflammatory myopathies overlap syndrome in children: a report of two cases and a review of the literature
AbstractThe occurrence of anti-Ku antibody-positive idiopathic inflammatory myopathy (IIM) in pediatric patients is rare, and therefore, the clinical phenotypes of this disease in such patients remain obscure. We herein report two cases of Japanese female pediatric patients with anti-Ku antibody-positive IIM. One case was unique in that it was complicated by pericardial effusion. Another patient had severe and refractory myositis with immune-mediated necrotizing myopathy. In addition, we reviewed literatures involving a total of 11 pediatric patients with anti-Ku antibody-positive IIM. The median age of the patients was 11...
Source: Clinical Rheumatology - July 2, 2023 Category: Rheumatology Source Type: research

Genes, Vol. 14, Pages 1393: NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia
Conclusion These data confirm the high genetic heterogeneity of hyperCKemia and metabolic myopathies. The reduced diagnostic yield suggests the existence of additional genes associated with this condition but also allows speculation that a significant number of cases presenting with hyperCKemia or muscle symptoms are due to extrinsic, not genetic, factors.
Source: Genes - July 2, 2023 Category: Genetics & Stem Cells Authors: Federica Invernizzi Rossella Izzo Isabel Colangelo Andrea Legati Nadia Zanetti Barbara Garavaglia Eleonora Lamantea Lorenzo Peverelli Anna Ardissone Isabella Moroni Lorenzo Maggi Silvia Bonanno Laura Fiori Daniele Velardo Francesca Magri Giacomo P. Comi D Tags: Article Source Type: research

A case report of Andersen-Tawil syndrome misdiagnosed with myodystrophy
Andersen-Tawil syndrome (ATS) is a rare periodic paralysis caused by the KCNJ2 gene mutation. Here, we report on an ATS patient misdiagnosed with myodystrophy. A 66-year-old man presented with a 60-year history of episodic weakness in the proximal muscles of the upper and lower limbs. The man has been diagnosed with muscle pathology and has undergone genetic examinations in many hospitals since childhood. We conducted a correct diagnosis in combination with the patient’s history, electrical physiology, and genetic analysis and identified a heterozygous KCNJ2 gene variant (c.220A > G; p.T74A). Patients with ATS can...
Source: Frontiers in Neurology - June 30, 2023 Category: Neurology Source Type: research

Genes, Vol. 14, Pages 1363: Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature
Conclusions: Our patient presented a phenotype compatible with the mild–moderate form, although she presented peculiar features such as a short stature, myopia, mild sensorineural hearing loss, psychiatric symptoms, and posterior-anterior impairment gradient on thigh muscle MRI.
Source: Genes - June 28, 2023 Category: Genetics & Stem Cells Authors: Gemma Marinella Alessandro Orsini Massimo Scacciati Elisa Costa Andrea Santangelo Guja Astrea Silvia Frosini Rosa Pasquariello Anna Rubegni Giada Sgherri Martina Corsi Alice Bonuccelli Roberta Battini Tags: Review Source Type: research

Genes, Vol. 14, Pages 1360: Rhabdomyosarcoma Associated with Core Myopathy/Malignant Hyperthermia: Combined Effect of Germline Variants in RYR1 and ASPSCR1 May Play a Role
This report expands the spectrum of diseases associated with rhabdomyosarcomas and a possible differential diagnosis of soft tissue tumors in patients with RYR1 variants.
Source: Genes - June 27, 2023 Category: Genetics & Stem Cells Authors: Pamela V. Andrade Joilson M. Santos Anne C. B. Teixeira Vanessa F. Sogari Michelle S. Almeida Fabiano M. Callegari Ana C. V. Krepischi Acary S. B. Oliveira Mariz Vainzof Helga C. A. Silva Tags: Article Source Type: research

Single fibre cytoarchitecture in ventilator-induced diaphragm dysfunction (VIDD) assessed by quantitative morphometry second harmonic generation imaging: Positive effects of BGP-15 chaperone co-inducer and VBP-15 dissociative corticosteroid treatment
Ventilator-induced diaphragm dysfunction (VIDD) is a common sequela of intensive care unit (ICU) treatment requiring mechanical ventilation (MV) and neuromuscular blockade (NMBA). It is characterised by diaphragm weakness, prolonged respirator weaning and adverse outcomes. Dissociative glucocorticoids (e.g., vamorolone, VBP-15) and chaperone co-inducers (e.g., BGP-15) previously showed positive effects in an ICU-rat model. In limb muscle critical illness myopathy, preferential myosin loss prevails, while myofibrillar protein post-translational modifications are more dominant in VIDD. It is not known whether the marked decl...
Source: Frontiers in Physiology - June 27, 2023 Category: Physiology Source Type: research

Differential histological features and myogenic protein levels in distinct muscles of d-sarcoglycan null muscular dystrophy mouse model
AbstractSkeletal muscle (SkM) comprises slow and fast-twitch fibers, which differ in molecular composition, function, and systemic energy consumption. In addition, muscular dystrophies (DM), a group of diverse hereditary diseases, present different patterns of muscle involvement, progression, and severity, suggesting that the regeneration-degeneration process may differ depending on the muscle type. Therefore, the study aimed to explore the expression of proteins involved in the repair process in different muscles at an early stage of muscular dystrophy in the δ-sarcoglycan null mice (Sgcd-null), a limb-girdle muscular dy...
Source: Journal of Molecular Histology - June 26, 2023 Category: Laboratory Medicine Source Type: research

The association between C-peptide and atrial cardiomyopathy in nondiabetic adults: results from NHANES III
AbstractSerum C-peptide exhibits various biological activities. The relationship between C-peptide and atrial cardiomyopathy remains unknown. We aimed to investigate the association between C-peptide level and atrial cardiomyopathy in nondiabetic adults. Our study enrolled 4578 participants without diagnosed diabetes from the Third National Health and Nutrition Examination Survey (NHANES III). Atrial cardiomyopathy was defined as a deep terminal negative P wave in V1 below − 100 µV (more negative), according to the electrocardiogram. The participants were categorized into low C-peptide (≤ 1.46 nmol/L) and high C-...
Source: Heart and Vessels - June 24, 2023 Category: Cardiology Source Type: research

Genes, Vol. 14, Pages 1332: Hypertrophic Cardiomyopathy Complicated by Post-COVID-19 Myopericarditis in Patient with ANO5-Related Distal Myopathy
nskaya Evgeniya Kogan A 60-year-old male with hypertrophic cardiomyopathy, conduction disorders, post-COVID-19 myopericarditis and heart failure was admitted to the hospital’s cardiology department. Blood tests revealed an increase in CPK activity, troponin T elevation and high titers of anticardiac antibodies. Whole exome sequencing showed the presence of the pathogenic variant NM_213599:c.2272C>T of the ANO5 gene. Results of the skeletal muscle biopsy excluded the diagnosis of systemic amyloidosis. Microscopy of the muscle fragment demonstrated sclerosis of the perimysium, moderate lymphoid...
Source: Genes - June 24, 2023 Category: Genetics & Stem Cells Authors: Olga Blagova Yulia Lutokhina Marina Vukolova Sergey Pirozhkov Natalia Sarkisova Dilara Ainetdinova Anushree Das Marina Krot Vera Smolyannikova Petr Litvitsky Elena Zaklyazminskaya Evgeniya Kogan Tags: Case Report Source Type: research

Discordance between patient and physician-reported disease activity in adult idiopathic inflammatory myopathy
CONCLUSION: Fatigue, pain, and physical activity are important driving factors of the differences observed in the patient vs physician assessment of myositis disease activity. Understanding the gap between patient-physician perspectives may help provide better patient-centered care.PMID:37348555 | DOI:10.1093/rheumatology/kead316
Source: Pain Physician - June 22, 2023 Category: Anesthesiology Authors: Shiri Keret Didem Saygin Siamak Moghadam-Kia Dianxu Ren Chester V Oddis Rohit Aggarwal Source Type: research

Effective treatment of choreaballism due to an MT ‐CYB variant with haloperidol, tetrabenazine, and antioxidants
Cerebral CT showing bilateral putaminal calcifications of a patient with multisystem mitochondrial disorder due to the variant 15043G  >  A inMT-CYB. Key Clinical MessageHypokinetic and hyperkinetic movement disorders are a common phenotypic feature of mitochondrial disorders. Choreaballism has been reported particularly in patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome and in maternally inherited diabetes and deafness syndrome. The pathophysiological basis of movement disorders in mitochondrial disorders is the involvement of the basal ganglia or the midbrain. Haloper...
Source: Clinical Case Reports - June 21, 2023 Category: General Medicine Authors: Josef Finsterer, Ritwik Ghosh Tags: CASE REPORT Source Type: research

A case report of Sj ögren's syndrome complicated with immune-mediated necrotizing myopathy
Scand J Rheumatol. 2023 Jun 20:1-4. doi: 10.1080/03009742.2023.2202510. Online ahead of print.NO ABSTRACTPMID:37339374 | DOI:10.1080/03009742.2023.2202510
Source: Scandinavian Journal of Rheumatology - June 20, 2023 Category: Rheumatology Authors: Y Zhang F Zhu C Liu M Wang Source Type: research

Development and validation of an eco-friendly HPLC –UV method for determination of atorvastatin and vitamin D3 in pure form and pharmaceutical formulation
Statin-associated muscle symptoms are considered as obvious adverse effects of prolonged statin therapy such as myopathy, myalgia, and rhabdomyolysis. These side effects are associated with vitamin D3 deficiency ...
Source: Chemistry Central Journal - June 20, 2023 Category: Chemistry Authors: Khaled Maged, Magda M. El-Henawee and Soad S. Abd El-Hay Tags: Research Source Type: research

GSE234964 Ablation of collagen XII disturbs joint extracellular matrix organization and causes patellar subluxation
Contributor : Bent BrachvogelSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusCollagen XII, belonging to the fibril-associated collagens, is a homotrimeric secreted extracellular matrix (ECM) protein encoded by the COL12A1 gene. Mutations in the human COL12A1 gene cause an Ehlers-Danlos/myopathy overlap syndrome leading to skeletal abnormalities and muscle weakness. Here, we studied the role of collagen XII in joint pathophysiology by analyzing collagen XII deficient mice and human patients. We found that collagen XII is widely expressed across multiple connective tissue of the develop...
Source: GEO: Gene Expression Omnibus - June 19, 2023 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research