OBJECTIVE:To observe the therapeutic effect of Weixiao mixture on functional dyspepsia.METHODS:In a single-blind design,patients were randomly divided into Weixiao mixture group and domperidone group to compare the ther?apeutic effect between two preparations.RESULTS:The total effective rates were83.87%for Weixiao mixture group and75.00%for domperidone group(P

BACKGROUNDThe efficacy of chemotherapy alone is still unsatisfactory in the treatment of advanced non-small cell lung cancer (NSCLC). Some kinds of solid tumors have showed good responses to chemotherapy combined with hyperthermia. This study is to investigate the feasibility and the response of hyperthermia combined with chemotherapy for advanced NSCLC.

METHODSA total of 51 patients with advanced NSCLC were eligible, in which 22 were in group HC, and the other 29 in group C. Patients in the two groups received NP (vinorelbine+cisplatin) or GP (gemcitabine+cisplatin) regimen for 2 cycles. In addition, patients in group HC received local hyperthermia twice a week, up to 12 times.

RESULTSThe response rate in group HC was 22.7%, and 13.8% in group C (P > 0.05). The clinical benefit rate in group HC was significantly higher than that in group C (P < 0.05). There was no difference in change of KPS score after treatment between the two groups.

CONCLUSIONSHyperthermia combined with chemotherapy shows good tolerance and response in patients with advanced NSCLC. Further study should be carried out.

Objective:To identify the pathogenic gene and inheritance pattern in a pedigree of congenital iris coloboma with congenital cataract.Methods:The method of pedigree investigation was adopted.A pedigree of congenital iris coloboma with congenital cataract was collected by Yunnan Disabled Rehabilitation Center and the 2nd Afliated Hospital of Kunming Medical University in February 2020.Ophthalmic examinations were carried out on the female proband, her parents, her children and her husband, and the clinical diagnosis was made.Genomic DNA was extracted from peripheral blood samples collected from the family members.The suspected pathogenic gene in the proband and her husband was screened by whole exome sequencing and was identified by bioinformatics analysis.The amino acid conservation was analyzed by UGENE software.The impact of the mutation on protein translation was predicted using MutationTaster software.The pathogenicity of the mutation was assessed according to the American College of Medical Genetics (ACMG) Standards and Guidelines.Pathogenic gene and mutations were verified by Sanger sequencing.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of the 2nd Afliated Hospital of Kunming Medical University (No.PJ-2020-61).Written informed consent was obtained from each subject or custodian.Results:The proband showed large iris defects in both eyes with only a small amount of observable iris tissue in the periphery, lens cortical opacity and posterior capsule opacification, accompanied by nystagmus.A novel heterozygous frameshift variation c. 415dupA (p.R139fs) was located in exon 8 of PAX6 gene, and the variation was conservative across multiple species.The variation was in the highly conserved region of PAX6 gene and caused the dysfunction of PAX6 protein.The variation was graded as PVS1+ PM2+ PP1, a pathogenic variation, based on ACMG guidelines.The pedigree was consistent with co-segregation, indicating that the novel variation was pathogenic.The proband and her children were diagnosed, but her parents were phenotypically normal, in accordance with autosomal dominant inheritance. Conclusions:The novel frameshift variation c.415dupA (p.R139fs) on the exon 8 of PAX6 gene is responsible for congenital iris coloboma with congenital cataract in the pedigree.This is the first report of this novel variation in PAX6 gene.