Analysis of clinical phenotype and genotype of Chinese children with disorders of sex development / 中华儿科杂志

Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.

Influence of Human Cytomegalovirus Infection during First Trimester on Neurobehavior of Mice / 实用儿科临床杂志

Objective To explore the neurobehavioral change of mice from dams with human cytomegalovirus(HCMV) infection during first trimester. Methods Eight-week-old fertilized female Kunming mice were randomly divided into infected group and control group.On the 4th gestation day mice in infected group were injected intraperitoneally with 0.5 mL HCMV (1?10-6 50 percent of tissue cultured infective dose),and those in control group were injected intraperitoneally with 0.5 mL supernatant of cultured human fibroblast.Caesarean birth operation was performed on 3 randomly chosen fertilized mice before delivery. Fetuses were observed and their brain tissue were collected and analyzed under light and electron microscope separately.PCR test was used to determine HCMV pp65 antigen of offspring′s sera.Neurobeha-vioral test such as Morris Water Maze and Lashley Ⅲ Water Maze were performed on offspring mice of 6-7 weeks old.Results Compared with control group,the pathological changes such as degeneration,necrosis,and nucleus disappearance of nerve cells and giant cells were found in offspring′s brain of mice in infected group under light microscope. Under electron microscope,swelling of nerve cells and spherical virus particle in the cytoplasm were found in the brain of mice in infected group. HCMV pp65 antigen was detected in 7 offspring mouse′s se-rum in infected group.Offspring′s swimming time and speed were(30.21?12.74) s and(19.10?1.90) cm/s in infected group,while those in control group were (11.87?3.62) s and (23.21?1.02) cm/s by Morris Water Maze test,there were significantly differences between 2 groups (Pa

Significance of Detection of Levels of Anti-Endomysial Antibody Immunoglobulin A,Immunoglobulin G in Diagnosis of Celiac Disease / 实用儿科临床杂志

Objective To investigate whether iceberg phenomenon of celiac disease(gluten-sensitive enterpathy,GSE) exists among the people of China,and study on the levels of anti endomysial antibody(AEA)IgA and IgG,which provide the foundation for studying functional genome of GSE.Methods One hundred and thirty-six cases liability crowd,which showed part symptoms of GSE,were selected as case group and 50 cases of normal were selected as control group.Enzyme-linked immunosorbent assay was used to detect the level of 2 groups and positive rate of AEA was compared between 2 groups.Results The levels of AEA IgA and IgG in case group(17.69?2.97,15.23?2.36)were significantly higher than those of control group(11.65?2.75,12.25?1.86),especially 2 strong positive cases were found in case group.Conclusion Iceberg phenomenon of celiac disease exists in the people of China,which means many celiac disease patients have not been diagnosed and it need us far more research.