Application of chromosome microarray analysis in 489 children with developmental delay/intellectual disability / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the value of chromosome microarray analysis (CMA) for identifying the etiology of developmental delay/intellectual disability (DD/ID).</p><p><b>METHODS</b>A total of 489 children referred for DD/ID with or without other abnormalities were recruited. All patients showed a normal karyotype. DNA was extracted and hybridized with Affymetrix CytoScan 750K array by following the manufacturer's protocol. The data was analyzed with CHAS v2.0 software.</p><p><b>RESULTS</b>The children were classified as with isolated DD/ID (n=358), DD/ID with epilepsy (n=49), and DD/ID with other structural anomalies (n=82). Pathogenic copy number variants (CNVs) were identified in 126 cases (25.8%), which included 89 (24.9%, 89/358) of whose with isolated DD/ID, 13 (26.5%, 13/49) of those with DD/ID and epilepsy, and 24 (29.3%, 24/82) of whose with DD/ID and other structural anomalies [P=0.064 (24.9% vs. 26.5%), P=0.679 (24.9% vs. 29.3%), and P=0.113 (26.5% vs. 29.3%), respectively]. Among the 126 cases, 79 were identified as microdeletion/microduplication syndromes, which included 15q24 microdeletion syndrome, Xq28 microduplication syndrome, and Lowe syndrome. Forty-seven cases had de novo pathogenic CNVs. ABAT, PMM2, FTSJ1, DYNC1H1 and SETBP1 were considered as candidate genes for DD/ID.</p><p><b>CONCLUSION</b>CMA is an effective method for identifying the etiology of DD/ID and is capable of identifying microdeletion/microduplication syndromes as well as de novo pathogenic CNVs which may be missed by conventional karyotyping. Based on the results, candidate genes for DD/ID may be identified.</p>

Observation on the effect of carboprost suppositories retention on the treatment of puerpera with mazischesis / 中国生化药物杂志

Objective To explore the effect of CarboprostSuppositories retention on the treatment of puerpera with mazischesis, summarize the clinical experience of intervention.Methods 40 puerperas with mazischesis were given CarboprostSuppositories intervention, and were classified as the observation group;40 puerperas with mazischesis were given the routine intervention(normal saline and oxytocin), and were classified as the control group.All the study objects were from the second affiliated hospital of Wenzhou medical university from January 2016 to January 2017.Results The natural childbirth rate in the observation group was higher than that in the control group;The tedori placenta was lower than that in the control group;The amount of bleeding in the observation group was less than that in the control group, and the third stage of labor was shorter than that in the control group.The differences in the above data between the two groups were statistically significant(P<0.05).Conclusion Which CarboprostSuppositories is used on the treatment of mazischesis in pregnant women can shorten the third stage of labor, reduce the amount of bleeding, and promote natural childbirth,the adverse reaction is less.

Detection and typing of human papillomavirus (HPV) as well as mutation analysis of HPV 6b L1 gene in lesions from patients with condyloma acuminatum / 中华皮肤科杂志

Objective To investigate the genotype of HPV and L1 gene polymorphism of HPV subtype 6b in patients with condyloma acuminatum (CA) from Wenzhou region. Methods Gene chips were used to profile the genotype of HPV in tissue samples from 73 patients with CA. PCR was performed to amplify the L1 gene in 11 samples positive for HPV type 6 followed by sequencing. Results Of the 73 patients, 61 (83.56%) were positive for HPV DNA. Among the 61 HPV-positive patients, 93.44% were infected with single type of HPV, and 6.56% with mixed type of HPV. In patients infected with single type of HPV, type 11 predominated with a prevalence of 29.51% followed by HPV 6 (18.03%); in those infected with mixed type of HPV, 6and 11 were the most common genotypes. Besides, sequencing analysis revealed single nucleotide polymorphism at 6 sites of HPV 6b type L1 gene, and an A/T polymorphism at position -810 was present in all samples, which was considered to be a local mutation of HPV from Wenzhou region. Conclusions In Wenzhou region, HPV types 11 and 6 prevail in patients with CA, and multiple mutations are present in L1 gene of HPV 6b type.