1.Inv(20) with infertility and polycystic ovary syndrome found in one family
Yunchun CHEN ; Xuning HUANG ; Changying KONG ; Jiandong HU
Chinese Journal of Laboratory Medicine 2021;44(9):855-859
Genealogy and cytogenetics examinations were performed on an infertility patient and her family members in the Second Affiliated Hospital of Hainan Medical University on 2016. The unique karyotype of proband: 46, XX, inv(9)(p12q13)dn, inv(20)(p13q13.1), 1qh+mat/46, XX, inv(20)(p13q13.1), 1qh+mat, No.4516, was discovered. The proband suffered from infertility and polycystic ovary syndrome. The proband′s second sister, with a karyotype of 46, XX, inv(20)(p13q13.1)mat, also suffered from polycystic ovary syndrome. The karyotype of the proband′s mother was 46, XX, inv(20)(p13q13.1), 1qh. The karyotype of the proband′s father was 46, XY, ?inv(9)(q32q34), inv(20)(p13p11.2). Inversion of chromosome 20 occurred in two generations of this family. Both the proband and her second old sister inherited the mother′s karyotype rather than the karyotype of their father. The abnormal karyotype may interfere with pregnancy, which leads to infertility. The size of the chromosomes and segments involved in inversion should be considered comprehensively in genetic counselling to provide more accurate genetic counselling information for the carriers, and a solid diagnostic basis for clinicians.
2.Meta-analysis of butylphthalide soft capsules combined with aspirin in treatment of acute cerebral infarction
Jingmin KONG ; Changying LIU ; Shanshan ZHU
Journal of Apoplexy and Nervous Diseases 2020;37(2):118-122
Objective To evaluate the efficacy and safety of butylphthalide combined with aspirin in treatment of acute cerebral infarction.Methods CNKI,Wanfang,VIP,sinomed,PubMed,Cochrane library databases were searched by computer from the building time to October 2019.According to the inclusion and exclusion criteria,the eligible RCT was selected and Meta-analysis was carried out by Revman 5.3 soft ware.Results A total of 1375 cases were included in 15 articles.The results from Meta-analysis demonstrated that the cure rate of the treatment group was superior to that of the single drug [RR=1.56,95% CI (1.16,2.10),Z=2.93 (P=0.003)],additional other treatments[RR=1.99,95% CI(1.30,3.05),Z=3.16(P=0.002)];the effective rate of the treatment group was superior to that of the single drug[RR=1.41,95%CI(1.22,1.64),Z=4.52(P<0.00001)],additional other treatments[RR=1.24,95%CI(1.12,1.38),Z=4.07(P<0.0001)];the NHISS score of the treatment group was lower than that of the single drug[MD=-2.79,95%CI(-3.72,-1.86),Z=5.86(P<0.00001)],additional other treatments[MD=-2.70,95%CI(-3.54,-1.85),Z=6.26(P<0.00001)].There was no significant difference in safety between the two groups.Conclusion Butylphthalide combined with aspirin is effective and safe in the treatment of acute cerebral infarction.