Objective To study the etiology of a Chinese family with two cases of recessive non-syndromic hearing loss.Methods The clinical data of the family were collected.DNA was extracted from venous blood sam-ples,and whole-exome sequencing were performed to analyze potential causative deafness genes.Sanger sequencing was performed to verify the gene variants.Results There were 5 people among two generations in this family.The proband(Ⅱ-2,9 years old)and her brother(Ⅱ-3)had sensori-neural hearing loss,while their parents had normal hearing.The whole-exome high-throughput sequencing found that the patient carried two mutations in the CDH23 gene:c.4762C＞T(p.ARG1588TRP)and c.6604G＞A(p.ASP2202ASN).According to the American College of medical genetics and genomics(ACMG)genetic variation classification standards and guidelines,both c.6604G＞A and c.4762C＞T variants were identified as pathogenic.Conclusion The new compound heterozygous mutations c.4762C＞T and c.6604G＞A in the CDH23 gene are highly likely to be the causative factors for deafness in this family.

Objective To study the etiology of a Chinese family with two cases of recessive non-syndromic hearing loss.Methods The clinical data of the family were collected.DNA was extracted from venous blood sam-ples,and whole-exome sequencing were performed to analyze potential causative deafness genes.Sanger sequencing was performed to verify the gene variants.Results There were 5 people among two generations in this family.The proband(Ⅱ-2,9 years old)and her brother(Ⅱ-3)had sensori-neural hearing loss,while their parents had normal hearing.The whole-exome high-throughput sequencing found that the patient carried two mutations in the CDH23 gene:c.4762C＞T(p.ARG1588TRP)and c.6604G＞A(p.ASP2202ASN).According to the American College of medical genetics and genomics(ACMG)genetic variation classification standards and guidelines,both c.6604G＞A and c.4762C＞T variants were identified as pathogenic.Conclusion The new compound heterozygous mutations c.4762C＞T and c.6604G＞A in the CDH23 gene are highly likely to be the causative factors for deafness in this family.

The intracellular retention of nanotherapeutics is essential for their therapeutic activity. The immobilization of nanotherapeutics inside target cell types can regulate various cell behaviors. However, strategies for the intracellular immobilization of nanoparticles are limited. Herein, a cisplatin prodrug was synthesized and utilized as a glutathione (GSH)-activated linker to induce aggregation of the cisplatin prodrug/IR820/docetaxel nanoassembly. The nanoassembly has been reprogrammed with peptide-containing moieties for tumor-targeting and PD-1/PD-L1 blockade. The aggregation of the nanoassemblies is dependent on GSH concentration. Evaluations

Objective To understand the expiration date of alcohol-based hand disinfectant after it is opened for use,and provide reference for rational clinical application of alcohol-based hand disinfectant.Methods 20 bottles of the same brand alcohol-based hand disinfectant which opened at the same time by the clinical departments were selected as the study object,hand hygiene compliance in theses departments ranked fourth from the end in the hospital,specimens were taken on the first day after opening,and repeated every 10 days until the disinfectant was used up.Hand specimens were also taken after disinfected by disinfectant.Qualified condition of disinfectant and hand specimens was detected.Results A total of 98 disinfectant specimens were collected,by naked eye observation,20 bottles of alcohol-based hand disinfectant were free of discoloration,precipitation,and suspended matter during the whole study period.The qualified detection rates of alcohol-based hand disinfectant within 60 days after opening were all 100%.44 hand specimens were taken and detected after disinfection,3 of which were unqualified(all were disinfected by alcohol-based hand disinfectant 50 days after opening),then detected again after disinfected by the same batch of disinfectant,all were qualified,which suggested that unqualified detection result of hand specimens was not due to disinfectant.Conclusion Alcohol-based hand disinfectant still has a good bactericidal effect on the sixth day after opening.

Objective To evaluate the efficacy of wax therapy for diabetic peripheral neuropathy, in order to provide suggestions for treatment and prevention.Methods Cochrane Library, JBI, PubMed, EMbase, CBM, CNKI, WANFANG DATA, VIP were searched by computer from inception to October, 2016 for randomized control trails in wax therapy for diabetic peripheral neuropathy. Two researchers searched and selected articles independently and the quality was assessed in accordance with Cochrane Manual. The articles were analyzed with Review Manager 5.3, and the evidence quality was assessed with GRADE profiler 3.6.1 software.Results A total of 8 randomized controlled trials were included. The number of literature quality grade A of original research is 3, while the number of literature quality grade B of original research is 4,and the number of literature quality grade C of original research is 1. Meta-analysis showed that the sensory nervus peronaeus conduction velocities improved by wax therapy for diabetic peripheral neuropathy patients,[MD=2.51, 95%CI(1.35,3.66), P<0.01]. By the GRADE system grading, the evidence quality is moderate.Conclusions The effect of wax therapy for diabetic peripheral neuropathy can improve the sensory nurve conduction velocities and speed of blood circle, so as to prevent ulcer of diabetic feet. Therefore, the clinical curative effects of the therapy require large-sample and high quality studies to confirm.