Objective:To probe into the mechanism of Shenshuai Capsule in delaying advance of chronic renal failure(CRF)and against interstitial renal fibrosis.Methods:74 cases of CRF at decompensation phase were randomly divided into a treatment group and a control group.Changes of their serum urea nitrogen(BUN),creatinie(SCr),endogenous creatinine clearance rate(Ccr),collegen Ⅳ (Col Ⅳ),procollagen Ⅲ(PC Ⅲ),laminin(LN),and improvement of urinary protein(uPro),urinary ?_2-microglobulin(?_2-MG)and clinical symptoms and signs were observed.Results:After treatment of Shenshuai Capsule,BUN,SCr,Col Ⅳ,PC Ⅲ,LN,urinary protein and ?_2-MG decreased and Ccr increased in the treatment group,with a significant differences between the two group in the above mentioned indexes except LN(P

The principle on the pitting electrochemical noise detected by using wavelet transform was described briefly and the signal of pitting electrochemical noise was analyzed for commercial pure aluminum in 3.5 % NaCl solution. The result showed that wavelet transform could not only obtain the waveform characteristic of pitting signaland system noise in the multi-scale space, but also detect the waveform of pitting electrochemical noise according to the transmitting characteristic of the maximum module of wavelet coefficients, which represented the waveform characteristic.

Objective:To explore the clinical characteristics and genetic etiology of a child with Spondyloocular syndrome (SOS) in order to enhance the awareness and understanding of this disease.Methods:A 3.5-year-old boy with SOS who had presented at the Department of Medical Genetics of Hunan Children′s Hospital on August 10, 2023 due to the repeated fractures for over 2 years and after binocular cataract surgery was selected as the study subject. Clinical data of his pedigree were collected, and peripheral venous blood samples were collected for the extraction of genomic DNA and subjected to trio-whole exome sequencing. Candidate variants were verified by Sanger sequencing and analyzed with bioinformatic software. This study was approved by the Medical Ethics Committee of Hunan Children′s Hospital (No. KYSQ2022-263).Results:The child had manifested repeated fractures, bilateral bowed femur, osteoporosis, cataract, atrial septal defect, and developmental delay. Ultrasonography has revealed fetal edema, peritoneal effusion, pleural effusion and polyhydramnios. Trio-whole exome sequencing and Sanger sequencing revealed that he has harbored compound heterozygous variants of the XYLT2 gene, namely c. 1103_1104delAG (p.Gln368Argfs*8) and c. 1238_1253delinsA (p.Val413_Pro418delinsGlu), which were inherited from his phenotypically normal father and mother, respectively. Neither variant was reported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG) and recommendations from the Clinical Genome Resource (ClinGen), the c. 1103_1104delAG was predicted as a pathogenic variant (PVS1+ PM2_Supporting+ PP4), whilst the c.1238_1253delinsA was predicted as a likely pathogenic variant (PM4+ PM3+ PM2_Supporting+ PP4). Conclusion:The c. 1103_1104delAG and c. 1238_1253delinsA compound heterozygous variants of the XYLT2 gene probably underlay the pathogenesis in this child. Above finding has enriched the phenotypic and mutational spectrum of SOS, and provided a basis for the clinical diagnosis, treatment, prognosis assessment and genetic counseling for this pedigree.