Objective The purpose of this study was to observe the effects of bumetanide on elderly type 2 diabetic patients with middle and advanced stages nephropathy. Methods Forty cases with diabetic nephropathy (DN) were divided into two groups:control group (20 cases) and treatment group (20 cases) . The control group accepted furosemide (20 mg, once a day) and the bumetanide was orally administrated at the dose of 1.0 mg, twice a day to the treatment group for 3 months. The assessment of transferrin (TRF) and urine microalbumin (UALB) was performed at the time points at the end of 1, 4, 8, 12 weeks after treatment. Results (1) The levels of BUN, SCr and UA after treatment were lower than before treatment, but there were no significant differences. (2) In the treatment group, the levels of TRF and UALB have decreased after treatment for 1 week, with no statistically significant. But at the end of 4, 8 and 12 weeks,the differences were statistically significant ( <0.05) . Especially, during the three months follow-up,the levels of TRF and UALB at 12 weeks have decreased obviously. Conclusion The therapeutic effect of bumetanide on DN might be better than that of furosemide.

OBJECTIVE: To explore the genetic basis for a Chinese pedigree with suspected mitochondrial functional defects through combined next-generation sequencing (NGS), copy number variation sequencing (CNV-seq), and mitochondrial DNA (mtDNA) sequencing. METHODS: Clinical data of the proband and his family members were collected. The patient and his parents were subjected to family-trio whole-exome sequencing (WES), CNV-seq and mtDNA variant detection. Candidate variant was verified by Sanger sequencing. RESULTS: Trio-WES revealed that the proband has carried compound heterozygous variants of the NDUFS1 gene, including a paternally derived c.64C>T (p.R22X) nonsense variant and a maternally derived c.845A>G (p.N282S) missense variant. Both variants may cause loss of protein function. No variant that may cause the phenotype was identified by CNV-seq and mtDNA variant analysis. CONCLUSION Children with suspected mitochondrial disorders may have no specific syndromes or laboratory findings. A comprehensive strategy including mtDNA testing may facilitate the diagnosis and early clinical interventions.
Child ; China ; DNA Copy Number Variations ; Electron Transport ; Humans ; Mutation ; NADH Dehydrogenase/genetics* ; Pedigree

Huntington's disease (HD) is an autosomal dominant inherited disease with insidious onset and slow progression, mainly characterized by chorea-like symptom, intelligence decline, and psychiatric abnormalities. Cause of the disease is abnormal expansion of CAG trinucleotide repeat sequences in the first exon of the Huntington gene (HTT) on chromosome 4. Despite the clear etiology, currently, no effective therapeutic measures to control the disease progress is noted, and symptomatic treatment is still the main treatment in clinical practice. This article provides a brief overview of the current clinical trials, clinical challenges, and future development of HD gene therapy to provide references for subsequent related research.