Chuan-qiang Pu

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BACKGROUND Congenital myasthenic syndromes (CMSs) are a group of clinically and genetically heterogeneous disorders caused by impaired neuromuscular transmission. The defect of AGRN was one of the causes of CMS through influencing the development and maintenance of neuromuscular transmission. However, CMS reports about this gene mutation were rare. Here, we(More)
OBJECTIVE To investigate GNE gene mutations in 5 Chinese patients with distal myopathy with rimmed vacuoles (DMRV). METHODS Five patients with typical clinical and pathological features of DMRV were studied. All the 11 coding exons and the flanking intron sequences of GNE gene were amplified by PCR and sequenced. Four family members of case 5 were also(More)
This study is to investigate the expression of complement membrane attack complex (C5b-9) in the skeletal muscle of patients with necrotizing myopathy (NM), and to investigate the relationship between C5b-9 and NM. Thirteen patients with NM and control patients with polymyositis and muscular dystrophy were enrolled in this study. Examinations including(More)
OBJECTIVE To explore the mRNA expression of MyoD gene in the skeletal muscles of myotonic dystrophy (MD) patients. METHODS Muscle biopsy specimens were obtained from the biceps muscles of arm of 4 MD patients and 4 healthy controls. Semi-quantitative reverse transcription polymerase chain reaction was performed to evaluate the mRNA expression of MyoD in(More)
18F-fluorodeoxyglucose-positron emission tomography/CT (18F-FDG PET/CT) scanning may be a useful tool for early diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD), as it may reveal lowered cellular glucose transport and metabolism in the cortex, cerebellum and basal ganglia. The aim of the present study was to compare the findings from PET/CT, MRI and(More)
OBJECTIVE To improve the differential diagnosis of tuberculous meningitis (TBM) and reduced potential misdiagnosis of TBM. METHODS The clinical data of 47 misdiagnosed cases of TBM between January, 1994 and June, 2009 were investigated retrospectively. The clinical presentations and causes for the misdiagnoses were analyzed. RESULTS The 47 patients with(More)
BACKGROUND Myopathies with rimmed vacuoles are a heterogeneous group of muscle disorders with progressive muscle weakness and varied clinical manifestations but similar features in muscle biopsies. Here, we describe a novel autosomal dominant myopathy with rimmed vacuoles in a large family with 11 patients of three generations affected. METHODS A clinical(More)
BACKGROUND Dermatomyositis (DM) and polymyositis (PM) are common inflammatory myopathies whose immunopathogenic mechanisms remain poorly understood. The NOD-like receptor family, pyrin domain containing 3 (NLRP3) inflammasome is a type of cytoplasmic multiprotein inflammasome and is responsible for the activation of inflammatory reactivations. Responding to(More)
OBJECTIVE Sporadic Creutzfeldt-Jakob disease (sCJD) is a fatal and transmissible neurodegenerative disorder. However, no studies have reported Chinese specific characteristics of sCJD. We aimed to identify differences in sCJD between Chinese patients and patients from other countries. METHODS The data from 57 Chinese sCJD patients were retrospectively(More)
OBJECTIVE To investigate effect of CD4(+) CD25(+) Foxp3(+) Tregs in the treatment of autoimmune myositis (EAM) in mice and explore the possible mechanisms. METHODS Mouse models of EAM were divided randomly into model group and treatment group, and the latter received infusion of CD4(+) CD25(+) Foxp3(+) Tregs separated from normal mouse spleen by magnetic(More)