ABSTRACT
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.
ABSTRACT
Objective To observe the clinical efficacy of electroacupuncture plus oral administration ofZeling Guanjie Xiaozhong Heji in treating rheumatoid arthritis (RA) due to liver-kidney yin deficiency.Method Totally 126 patients with active RA due to liver-kidney yin deficiency were randomized into a treatment group and a control group, 63 cases in each group. The control group was prescribed with orally taking Methotrexate tablets and Leflunomide tablets, while the treatment group was intervened by electroacupuncture plus oral administration ofZeling Guanjie Xiaozhong Heji in addition to the medications given to the control group. The Disease Activity Score 28 (DAS28) was evaluated before and after intervention, and the therapeutic efficacies were compared based on the criteria of the American College of Rheumatoid (ACR) and syndrome of traditional Chinese medicine (TCM).Result The ACR total effective rate was 87.3% in the treatment group versus 65.1% in the control group, and the difference was statistically significant (P<0.01). The total effective rate based on TCM syndrome was 87.3% in the treatment group versus 73.0% in the control group, and the difference was statistically significant (P<0.05). There was a significant difference in comparing the DAS28 score between the two groups after intervention (P<0.01).Conclusion Electroacupuncture plus oral administration of Chinese medication and western medication is an effective approach in treating RA due to liver-kidney yin deficiency, and it can significantly enhance the therapeutic efficacy based on ACR20 and TCM syndrome.