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

Objective:To analyze the clinical efficacy and safety of camrelizumab combined with apatinib as a second-line therapy for unresectable hepatocellular carcinoma (HCC).Methods:Ninety-four cases with mid-and advanced-stage HCC who received camrelizumab combined with apatinib as second-line treatment were enrolled. Routine blood test, blood biochemical indexes, tumor stage, tumor imaging characteristics, previous treatment strategies and other clinical data before treatment were documented. Imaging examination follow-up results and adverse reactions during treatment were followed up until the end of follow-up or loss of follow-up or death. Kaplan-Meier method was used to analyze the clinical efficacy.Results:As of the last follow-up, 94 cases with mid-and advanced-stage HCC had received camrelizumab combined with apatinib as second-line treatment. Among them, 15 cases were lost to follow-up, 31 cases died, and 48 cases survived. The overall remission rate was 31.9%. The overall disease control rate was 71.3%. The median time to disease-free progression was 6.6 months. The median time to disease progression was not yet available. The 1-year cumulative survival rate was 62.3%. Grade 3 and above adverse reactions mainly included were thrombocytopenia (7.4%), abdominal pain (4.3%), active hepatitis (4.3%), leukopenia (4.3%), diarrhea (3.2%), hand-foot syndrome (3.2%). All adverse reactions were effectively controlled.Conclusion:Camrelizumab combined with apatinib can effectively prolong the survival period of patients with mid-and advanced-stage HCC, and it is well tolerated.

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.