Objective To investigate the clinical features and analyze the molecular genetics of a pedigree of limb girdle muscular dystrophy (LGMD).Methods Pedigree analysis and clinical examination were performed in one four-generation family with LGMD.Electrophysiology and muscle biopsy were done in the affected members.With an informed consent, gene mutation, genome screening and linkage analysis were conducted in 26 members of this pedigree.Results Seven patients were identified.Pedigree analysis was consistent with autosomal dominant inheritance.Affected members had early presentation.Main features included proximal muscle weakness without dysarthria nor spasticity; electrophysiology and muscle biopsy revealed myopathic changes.LGMD1 A, 1B, 1C and facioscapulohumeral dystrophy genes were not detected by gene mutation analysis.Genome screening and linkage analysis did not reveal any linkage with the disease-causing gene and the reported loci of LGMD1D and LGMD1F genes.Conclusions The clinical manifestations of this LGMD family are highly heterogeneous, and the disease-causing gene of this family is not linked to any of the reported sites, suggesting this may be a new disease-causing locus, or a new genetic type of LGMD.

Objective To investigate the effect of sodium nitroprusside combined with hydrochlorothiazide in the treat-ment of chronic heart failure. Methods The 100 cases of patients with chronic heart failure were selected from August 2012 to October 2013, and they were randomly divided into experimental group (50 cases) and control group (50 cases), control group was given conventional treatment (beta blockers, angiotensin converting enzyme inhibitors, myocardial nutrition and digitalis drugs), the treatment on the basis of conventional combined with sodium nitroprusside, hy-drochlorothiazide was applied in experimental group, by echocardiography through two experimental groups and control group before and after treatment in patients with left ventricular ejection fraction (LVEF) and left ventricular end-dias-tolic diameter (LVDD), laboratory testing in patients with myocardial troponin (cTnT), high C-reactive protein (CRP), tumor necrosis factor alpha (TNF alpha) content, USES the heart function evaluation standards promulgated by the New York heart association, the curative effect of patients in two groups was judged. Results Compared with the patients in control group after treatment, blood pressure, heart function LVEF, LVDD, CRP, cTnT and TNF alpha of experimental group improved, 6 minutes walk test distance was longer, the total effective rate, the efficiency was improved, statistical significance was founded between two groups (P<0.05). Conclusion The effect of sodium nitroprusside combined with hy-drochlorothiazide on patients with chronic heart failure curative is distinct, worth clinical promotion.