ABSTRACT
Objective·To screen NPHS2 mutations in adult focal segmental glomerulosclerosis(FSGS)patients based on a large Chinese FSGS cohort. Methods · All patients were biopsy determined FSGS by the Department of Nephrology at Ruijin Hospital affiliated to Shanghai Jiao Tong University School of Medicine. FSGS secondary to systemic disease and other hereditary kidney disease were excluded. After extraction of genomic DNA of peripheral blood,NPHS2 was screened by directly sequencing the exon/intron junction or high-throughput sequencing,including whole exon sequencing and Panel sequencing, and then verified by Sanger sequencing. One hundred healthy controls were enrolled to validate candidate mutations. Results · Two hundred and four FSGS patients were enrolled,including 52 familial(25.5%) and 152 sporadic patients(74.5%),of which steroid-resistant FSGS patients accounted for 30.3%(46/152).By sequencing NPHS2 in all patients of the cohort(Sanger sequencing in 61 patients and high-throughput sequencing in 143 patients), 2 novel conserved mutations were identified, one homozygous mutation in sporadic steroid-resistant FSGS, p.N199I and one heterozygous mutation in familial FSGS, p.L321fx346. Both of them were not detected in 100 healthy controls. These two variants were predicted to be damaging by Polyphen,SIFT and Mutation Taster.Totally,the mutation rate of NPHS2 in the FSGS cohort was 1%. Conclusion·Since the overall frequency of NPHS2 mutations is considerably low in Chinese adult-onset FSGS,NPHS2 is not the main disease-causing gene of this group of people.
ABSTRACT
Objective To observe the efficacy difference between ZHU Lian's acupuncture plusWen Ren Tiao Shu method (warming the Conception Vessel and regulating back-Shu points) and ovulation drugs in treating anovulatory infertility.Method Seventy patients were randomized into an observation group and a control group, 40 cases each. The control group was given ovulation triggering medications; the observation group was intervened by ZHU Lian's acupuncture plusWen Ren Tiao Shu method, with Tianshu (ST25), Zigong (EX-CA 1), Guanyuan (CV4), Xuehai (SP10), Zusanli (ST36), Sanyinjiao (SP6), Ganshu (BL18), Pishu (BL20), Sanjiaoshu (BL22) and Shenshu (BL23) selected, once per day, 10 sessions as a course of treatment. The two groups were observed for 3 menstrual cycles. The symptoms score of traditional Chinese medicine (TCM), menstruation score, basal body temperature (BBT), and ovulation rate by gynecological scanning were compared before and after the treatment, and the clinical efficacies were compared between the two groups.Result The TCM symptoms score changed significantly after the intervention in the observation group (P<0.05); the TCM symptoms score didn't show significant change after the treatment in the control group (P>0.05); after the treatment, there was a significant difference in comparing the symptoms score between the two groups (P<0.01); there was a significant difference in comparing the BBT between the two groups after the intervention (P<0.05); according to Chi-square test, after the treatment, the difference in ovulation rate between the two groups was statistically significant (P<0.05); the total effective rate was 94.3% in the observation group, higher than 82.9% in control group.ConclusionZHU Lian's acupuncture plusWen Ren Tiao Shu method can improve the symptoms of anovulatory fertility, increase the conception rate, and reduce adverse reactions; this method can produce a more significant efficacy than oral administration of Western medications in treating anovulatory fertility.
ABSTRACT
Objective To observe the efficacy difference between ZHU Lian's acupuncture plusWen Ren Tiao Shu method (warming the Conception Vessel and regulating back-Shu points) and ovulation drugs in treating anovulatory infertility.Method Seventy patients were randomized into an observation group and a control group, 40 cases each. The control group was given ovulation triggering medications; the observation group was intervened by ZHU Lian's acupuncture plusWen Ren Tiao Shu method, with Tianshu (ST25), Zigong (EX-CA 1), Guanyuan (CV4), Xuehai (SP10), Zusanli (ST36), Sanyinjiao (SP6), Ganshu (BL18), Pishu (BL20), Sanjiaoshu (BL22) and Shenshu (BL23) selected, once per day, 10 sessions as a course of treatment. The two groups were observed for 3 menstrual cycles. The symptoms score of traditional Chinese medicine (TCM), menstruation score, basal body temperature (BBT), and ovulation rate by gynecological scanning were compared before and after the treatment, and the clinical efficacies were compared between the two groups.Result The TCM symptoms score changed significantly after the intervention in the observation group (P<0.05); the TCM symptoms score didn't show significant change after the treatment in the control group (P>0.05); after the treatment, there was a significant difference in comparing the symptoms score between the two groups (P<0.01); there was a significant difference in comparing the BBT between the two groups after the intervention (P<0.05); according to Chi-square test, after the treatment, the difference in ovulation rate between the two groups was statistically significant (P<0.05); the total effective rate was 94.3% in the observation group, higher than 82.9% in control group.ConclusionZHU Lian's acupuncture plusWen Ren Tiao Shu method can improve the symptoms of anovulatory fertility, increase the conception rate, and reduce adverse reactions; this method can produce a more significant efficacy than oral administration of Western medications in treating anovulatory fertility.