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Total 240 results found since Jan 2013.

The genetic and clinical spectrum in a cohort of 39 families with complex inherited peripheral neuropathies
In conclusion, transthyretin amyloidosis with polyneuropathy (ATTR-PN), GNE myopathy, and neuronal intranuclear inclusion disease (NIID) were the most common genotypes in this cohort of complex IPNs.NOTCH2NLC dynamic mutation testing should be added to the molecular diagnostic workflow. We expanded the genetic and related clinical spectrum of GNE myopathy and ARSACS by reporting novel variants.
Source: Journal of Neurology - September 20, 2023 Category: Neurology Source Type: research

Reversible cardiac function and left ventricular hypertrophy in a Chinese man with mitochondrial myopathy: a case report
Mitochondrial myopathies (MMs) are a group of multi-system diseases caused by abnormalities in mitochondrial DNA (mtDNA) or mutations of nuclear DNA (nDNA). The diagnosis of mitochondrial myopathy (MM) is reli...
Source: BMC Cardiovascular Disorders - September 15, 2023 Category: Cardiology Authors: Guiping Wu, Yijun Han, Lifeng Zhao, Hong Zhang, Xiuzhao Fan, Weiqin Li, Xiaowen Che and Yun Zhou Tags: Research Source Type: research

Clinical characteristics of myositis patients with isolated anti-U1 ribonucleoprotein antibody resemble immune-mediated necrotizing myopathy
CONCLUSIONS: The clinical and pathological features of myositis patients with isolated anti-U1RNP antibodies were similar to IMNM. Arthritis and ILD are the most common extramuscular clinical features. Most respond well to treatment and have a good prognosis.PMID:37465567 | PMC:PMC10350785 | DOI:10.1177/1759720X231181336
Source: Adv Data - July 19, 2023 Category: Epidemiology Authors: Yongpeng Ge Hongxia Yang Wei Jiang Xiaolan Tian Xin Lu Guochun Wang Source Type: research

Identification of m.3243A & gt;G mitochondrial DNA mutation in patients with cerebellar ataxia
CONCLUSION: Mitochondrial m.3243A>G mutation accounted for 0.9% (2/232) of genetically-undetermined cerebellar ataxia in the Han Chinese cohort in Taiwan. These findings highlight the importance of investigating m.3243A>G in patients with genetically-undetermined cerebellar ataxia.PMID:37311680 | DOI:10.1016/j.jfma.2023.05.031
Source: J Formos Med Assoc - June 13, 2023 Category: General Medicine Authors: Nai-Yi Liao Kuan-Lin Lai Yi-Chu Liao Cheng-Tsung Hsiao Yi-Chung Lee Source Type: research

Type 1 interferon signature in peripheral blood mononuclear cells and monocytes of idiopathic inflammatory myopathy patients with different myositis-specific autoantibodies
ConclusionGene expressions were remarkably altered in the PBMCs of IIM patients. Anti-MDA5+ IIM patients had a more pronounced activated IFN signature than others. Monocytes exhibited a proinflammatory feature and contributed to the IFN signature of IIM patients.
Source: Frontiers in Immunology - May 9, 2023 Category: Allergy & Immunology Source Type: research

Clinical-pathological features and muscle imaging findings in 36 Chinese patients with rimmed vacuolar myopathies: case series study and review of literature
DiscussionCollectively, our findings expand our knowledge of the genetic spectrum of RVMs in China and suggest that muscle imaging should be an integral part of assisting genetic testing and avoiding misdiagnosis in the diagnostic workup of RVM.
Source: Frontiers in Neurology - April 28, 2023 Category: Neurology Source Type: research

Pneumoconiosis combined with connective tissue disease in China: a cross-sectional study
Conclusion CTD is highly prevalent in patients with pneumoconiosis, especially in patients of asbestosis, and silicosis/coal mine workers’ pneumoconiosis. Female sex and later stages of pneumoconiosis are associated with an increased risk of combined with CTD.
Source: BMJ Open - April 3, 2023 Category: General Medicine Authors: Xu, W., Ma, R., Wang, J., Sun, D., Yu, S., Ye, Q. Tags: Open access, Occupational and environmental medicine Source Type: research

Novel variants, muscle imaging, and myopathological changes in Chinese patients with VCP ‐related multisystem proteinopathy
ConclusionOur finding of novel variants expanded the mutational spectrum of theVCP gene. This cohort of Chinese patients withVCP mutations mainly present with inclusion body myopathy with predominant limb –girdle distribution. The characteristic pattern of fatty infiltration, especially the “isolated island” and “contra-isolated island” on muscle MRI, along with rimmed vacuoles in muscle biopsy, provides valuable clues for guiding genetic diagnostic workup.
Source: Molecular Genetics & Genomic Medicine - April 1, 2023 Category: Genetics & Stem Cells Authors: Yalan Wan, Qi Wang, Yiming Zheng, Meng Yu, Zhiying Xie, Chen Ling, Lingchao Meng, Jiaxi Yu, Yilei Zheng, Yikang Wang, Wenhao Zhang, Chang Liu, Yawen Zhao, Yun Yuan, Jianwen Deng, Qiang Gang, Zhaoxia Wang Tags: ORIGINAL ARTICLE Source Type: research

Novel variants, muscle imaging, and myopathological changes in Chinese patients with VCP-related multisystem proteinopathy
CONCLUSION: Our finding of novel variants expanded the mutational spectrum of the VCP gene. This cohort of Chinese patients with VCP mutations mainly present with inclusion body myopathy with predominant limb-girdle distribution. The characteristic pattern of fatty infiltration, especially the "isolated island" and "contra-isolated island" on muscle MRI, along with rimmed vacuoles in muscle biopsy, provides valuable clues for guiding genetic diagnostic workup.PMID:37002192 | DOI:10.1002/mgg3.2176
Source: Molecular Medicine - March 31, 2023 Category: Molecular Biology Authors: Yalan Wan Qi Wang Yiming Zheng Meng Yu Zhiying Xie Chen Ling Lingchao Meng Jiaxi Yu Yilei Zheng Yikang Wang Wenhao Zhang Chang Liu Yawen Zhao Yun Yuan Jianwen Deng Qiang Gang Zhaoxia Wang Source Type: research

Frameshift mutation in SQSTM1 causes proximal myopathy with rimmed vacuoles: A case report
p62/Sequestosome-1 (SQSTM1) is a stress-inducible scaffold protein involved in multiple cellular processes, including apoptosis, inflammation, cell survival, and selective autophagy. SQSTM1 mutations are associated with a spectrum of multisystem proteinopathy, including Paget disease of the bone, amyotrophic lateral sclerosis, frontotemporal dementia, and distal myopathy with rimmed vacuoles (MRV). Herein, we report a new phenotype of SQSTM1-associated proteinopathy, a novel frameshift mutation in SQSTM1 causing proximal MRV. A 44-year-old Chinese patient presented with progressive limb–girdle weakness. She had asymmetri...
Source: Frontiers in Neurology - March 14, 2023 Category: Neurology Source Type: research

Evaluation and subgroup analysis of the efficacy and safety of intensive rosuvastatin therapy combined with dual antiplatelet therapy in patients with acute ischemic stroke
ConclusionsWithout increasing bleeding and statin-associated adverse events, intensive rosuvastatin therapy plus 7-day DAPT significantly reduced the risk of recurrent stroke, especially for subgroups with high-risk factors.Clinical trial registration. China Clinical Trial Registration Center (ChiCTR1800017809).
Source: European Journal of Clinical Pharmacology - March 1, 2023 Category: Drugs & Pharmacology Source Type: research

Case report: Novel ETFDH compound heterozygous mutations identified in a patient with late-onset glutaric aciduria type II
In conclusion, this study described the phenotype and genotype of a patient with late-onset GA II. The two novel mutations in ETFDH were found in this case, which further expands the list of mutations found in patients with GA II. Because of the treatability of this disease, GA II should be considered in all patients with muscular symptoms and acute metabolism decompensation such as hypoglycemia and acidosis.
Source: Frontiers in Neurology - January 27, 2023 Category: Neurology Source Type: research

Evaluation and subgroup analysis of the efficacy and safety of intensive rosuvastatin therapy combined with dual antiplatelet therapy in patients with acute ischemic stroke
ConclusionsWithout increasing bleeding and statin-associated adverse events, intensive rosuvastatin therapy plus 7-day DAPT significantly reduced the risk of recurrent stroke, especially for subgroups with high-risk factors.Clinical trial registration. China Clinical Trial Registration Center (ChiCTR1800017809).
Source: European Journal of Clinical Pharmacology - December 29, 2022 Category: Drugs & Pharmacology Source Type: research