Application of CNV-seq and chromosomal karyotyping in the prenatal diagnosis for carriers of balanced translocations / 中华医学遗传学杂志

OBJECTIVE@#To assess the value of copy number variation sequencing (CNV-seq) and karyotyping in the prenatal diagnosis for carriers of balanced translocations.@*METHODS@#Clinical records of 135 amniocentesis samples of balanced translocation carriers undergoing simultaneous CNV-seq and karyotyping were analyzed. Chromosomal aberrations were defined as those can definitely lead to birth defects definitely, which included chromosomal numerical abnormality, large deletion/duplication and pathogenic copy number variations (pCNVs).@*RESULTS@#The detection rates for karyotyping and CNV-seq were 4.44% (6/135) and 5.93% (8/135) respectively, and the latter had a detection rate of 1.48(2/135) higher than the former. A total of 68 fetal chromosomal translocations were detected by karyotying analysis.@*CONCLUSION@#For couples carrying a balanced translocation, simultaneous CNV-seq and karyotyping is conducive to the detection of fetal chromosomal abnormalities and genetic counseling.

Clinical research on the treatment of 50 cases of bronchial bsthma in the acute attack with Xiaoqinglong decoction combined with western medicine / 国际中医中药杂志

Objective To observe clinical effect of treating bronchial asthma in the acute attack with xiaoqinglong decoction combined with western medicine. Methods 50 patients with bronchial asthma were randomly divided into two groups. The control group was treated with theophylline sustained release tablets, 0.1 g～0.2 g for each time, twice a day,salbutamol sulfate (inhaled), 200 μg (2 spray) for each time, twice a day, beclomethasone dipropionate aerosol (inhaled),100 μg (2 spray) for each time, twice a day, antibiotics, oxygen inhalation when necessary, infusion, and correcting water-electrolyte and acid-base imbalance if necessary. Based on the control group, the treatment group was treated with Xiaoqinglong decoction for continuous 3 courses, once a day, 7 days as a course. The clinical effect and adverse reaction were observed between control group and treatment group after the treatment. Results The total effective rate of the treatment group and the control group was 84.6% and 66.7% respectively. The clinical effect in the treatment group was significantly higher than that of the control group (χ2=2.762, P＜0.05). Conclusion Xiaoqinglong decoction combined with western medicine has better effects bronchial asthma in the acute attack than western medicine.