Acne inversa is a chronic inflammatory follicular disease with autosomal dominant inheritance. In recent years, many functional mutations in the NCSTN genes have been identified as the cause of familial acne inversa. Herein, we recruited four patients and seven unaffected individuals from a Chinese family and performed Sanger sequencing of the NCSTN gene. One novel frameshift mutation, c.450_459del (p.Ser 151GlnfsX48), was identified in exon 5 of the NCSTN gene. Three normal-looking children carrying the mutation were proven to be patients. We also presented a literature review from previous studies of acne inversa, suggesting that NCSTN is a hotspot gene for acne inversa. Most affected individuals experienced onset in adolescence. We confirmed the diagnosis in this family based on the mutation. This finding will help expound the relationship between the NCSTN gene and the pathogenesis of acne inversa and emphasize the value of genetic diagnosis in monogenic disorder.

Objective To evaluate the efficacy,bleeding profile and safety of low-dose levonorgestrel-releasing intrauterine system (LNG-IUS 8) in Chinese healthy women of childbearing age.Methods A multi-center,open-label,single-arm clinical trial conducted at 16 centres in China enrolled 773 healthy women of childbearing age (mean age 31.6 years old,range 18 to 40 years old),who demanded contraception,from April 2006 to June 2013.All women placed LNG-IUS 8 for 3 years and then been followed up at 3,6,9,12,18,24,30,36 months.The efficacy variables including pregnancy rate and expulsion rate were analyzed using life table,while observing adverse events (AE) to evaluate the safety.The bleeding profile happened during the study was assessed using 90-day reference intervals (World Health Organization criteria).Results Eight pregnancies occurred among 773 women,resulting in a overall Pearl index of 0.42 per 100 women years.The 3-year cumulative pregnancy rate was 0.37 per 100 women years and the 3-year cumulative expulsion rate was 1.99 per 100 women years.The number of women with bleeding/spotting reduced and the bleeding/spotting days declined over time.Totally 219 AE were reported related to LNG-IUS 8 placements.The most common AE were vaginal bleeding (8.2％,63/773)and the ovarian cyst (6.2％,52/773).LNG-IUS 8 had an improving effect on dysmenorrhea that the percentage of women with dysmenorrhea as well as the days of dysmenorrhea decreased over time.The percentage of women satisfied or very satisfied with LNG-IUS 8 was 87.2％ (622/713).Conclusion LNG-IUS 8 is highly effective and safe for Chinese healthy women of childbearing age.

AIM:To investigate the role of NFATc1 in vascular generation in the nude mice transplanted with human ovarian cancer SKOV3 cells.METHODS: NFATc1 expression was silenced by siRNA in SKOV3 cells.Human ovarian cancer transplantation nude mouse model was established by transplanting with SKOV3 cells in which the NFATc1 gene was silenced by siRNA technique.The expression of NFATc1, CXCR2, FGF-2 and PDGF-BB at mRNA and protein levels was determined by RT-PCR, Western blotting and immunohistochemical staining.The tumor growth, angiogenesis and lymphangiogenesis were also observed.RESULTS:Over-expression of NFATc1 was observed in human ovarian cancer tissues.The silencing of NFATc1 expression by siRNA decreased tumorigenesis of transplanted ovarian cancer cells in the nude mice, reduced tumor vascular generation and inhibited the expression of CXCR2, FGF-2 and PDGF-BB at mRNA and protein levels.CONCLUSION:NFATc1 is overexpressed in ovarian cancer.NFATc1 silencing regulates the tumor vascu-lar generation.NFATc1 thus has potential as a therapeutic target and for use in the diagnosis and evaluating prognosis of epithelial ovarian cancer.

Objective To study the effect of silencing Nek2 via RNAi on cell cycle of ovarian cancer SKOV 3 cells and the re‐lated molecular mechanism .Methods The Nek2‐siRNA was transfected into the ovarian cancer SKOV3 cells .The change of cell cy‐cle of SKOV3 cells at 48 h after transfection was examined by the flow cytometry technique ;Western blot assay was used to deter‐mine the change of level of the cell cycle related factors cyclinB1 ,CDK1 ,P27 and the phosphorylation level of the ERK1/2 after Nek2‐siRNA transfection for 48 h .Results The flow cytometry detection results showed that the proportion of the cells in G 2/M stage in the blank control group ,negative control group and RNAi group was 13 .72% ,12 .27% and 1 .56% respectively .Compared with the control group ,the number of the cells in G2/M stage in the transfected group was reduced obviously (P< 0 .05) .The Western blot detection results showed that compared with the control group ,the expression of cyclinB1 and CDK1 protein in SK‐OV3 cells was significantly reduced ,the expression of P27 was increased after silencing Nek2 and the phosphorylation level of ERK1/2 in SKOV3 cells was significantly reduced after silencing Nek2 gene(P< 0 .05) .Conclusion Silencing Nek2 gene might block the ovarian cancer cell line SKOV 3 initiating mitosis ,thus inhibit their proliferation .

Objective To explore the difference between the diagnosis of osteoporosis based on the measured value of lumbar spine and hip bone mineral density in middle-aged and elder people in Chongqing .Methods Dual energy X-ray absorptiometry was used to measure of lumbar spine and hip bone mineral density to people over the age of 40 in 2 151 cases ,grouped according to age and gender .Results Both male and female lumbar spine and hip bone mineral density values decreased gradually with increasing age;the detection rate of osteoporosis of the male′s hip was higher than that of the lumbar spine among each age group ,which was of statistical significance(P<0 .05);the detection rate of osteoporosis of the female′s lumbar spine was higher than that of the hip among each age group ,which was of statistical significance (P<0 .05) .Conclusion As for elderly male ,the sensitive position for osteoporosis detection is the hip .However ,as for elderly female is the lumbar spine .In order to improve the detection rate of osteo-porosis ,joint detection of both two positions is well suggested .

Because of the specificity and complexity,of obstetrics and gynecology,interns often meet doctor-patient communication problems during the internship.This study explores these problems to enhance interns' doctor-patient communication and to cultivate interns' technical proficiency.We have also made them grasp the methods and skills of doctor-patient communication,and enable them to successfully communicate with patients on internship.

Objective To explore the effectiveness of applying case leaded PBL in the teaching of obstetrics and gynecology.Methods Totally 80 (2006 grade) five-year clinical medicine students were divided into 2 groups (n =20) according to complete randomized designing principle.Case leaded PBL and traditional teaching methods were applied in the two groups respectively.Operation skill test,theoretic examination and questionnaires were used for evaluation and x2 was used to analyze the sample rate.Results Overall scores in final theoretic examination of PBL group were higher than those in traditional teaching group,but without significant difference (x2 =0.241,P ＞ 0.05).Scores of operation skill test were higher in PBL group than in traditional teaching group,with significant differences (x2 =6.229,P ＜ 0.05).Questionnaire results showed that satisfaction degree was higher in cases PBL group than in traditional teaching group,except that of ‘ systematical study’ item.Conclusions case leaded PBL teaching can not only enhance students' learning interests,intrigue their initiatives to improve practical ability,skills to communicate with patients and self-learning ability,but also enhance young teachers' coaching ability.

Objective To explore the relationship between therapeutic dosage of ultrasound ablation in treatment of uterine fibroids and imaging characteristics of bloody supply of uterine fibroids by color Doppler ultrasound imaging. Methods One hundred and forty-two patients with 168 fibroids were treated by ultrasound ablation. Before treatment, bloody supply of fibroids were classified into grade 0 -4 by ultrasonography. Three patients lost follow-up with contrast MRI exam within 1 month after treatment, so 165 fibroids were enrolled in this study. Bloody supplies were 9 fibroids in grade 0, 34 fibroids in grade 1, 35 fibroids in grade 2, 55 fibroids in grade 3 and 32 fibroids in grade 4. After 1 month treatment, the treated area without blood supply and ratio of ablation were measured by contrast MRI to evaluate the efficacy of thermal ablation and compare status of blood supple based different therapeutic dosage. According to International Reditherapy for Society ( SIR ) standard, adverse effect and score of pain were evaluated. Results ( 1) Ratio of ablation based; ratios of ablation were 79% in grade 0, 89% in grade 1, 92% in grade 2, 86% in grade 3, 71% in grade 4. It reached statistical difference when blood supply of grade 0 compared with those of grade 2 and 3 (P ＜ 0. 05 ) and blood supply of grade 4 compared with those of grade 1, 2, 3 ( P ＜ 0. 05). (2) Factor of energy efficiency:factor of energy efficiency were 13.19 J/mm3 in degree 0, 9. 54 J/mm3 in degree 1, 12. 91 J/mm3 in degree 2, 17. 83 J/mm3 in degree 3 and 28. 10 J/mm in degree 4. Factor of energy of ablation in degree 4 was significantly higher than those in degree 1, 2 and 3 blood supply (P ＜ 0. 05). It exhibit the positive relationship between blood supply and factor of energy of ablation ( r = 0. 354 ,P ＜ 0. 01). ( 3 ) Score of pain and adverse effect: nearly 85% ( 120/142 ) patients could tolerate this treatment very well. Those scores of pain were in range of 0 to 4. All patients did not extend their hospitalization and C to F of SIR standard was not recorded. Conclusion blood supply of myoma measured by ultrasound could predict dosage of ultrasound ablation, it could help select indicated well patients.

Objective:To study the effectiveness of Loop electrosurgical excision procedure (LEEP) in the diagnosis and management of cervical intraepithelial neoplasia(CIN). Methods: 155 patients with CIN were diagnosed by cervical biopsy under colposcopy. All cases were treated with LEEP and the operative time, bleeding volume, cervical biopsy results before and after LEEP were evaluated, and the effects and cervical regeneration were followed up. Results: The mean operative time of LEEP was 6. 8 minutes. The mean bleeding volume was 9.6m1. Pathological diagnosis of CINI CIN Ⅱ CIN Ⅲ after LEEP were positively correlated to directed biopsy by colposcopy. The correlation coefficient was 0.785 ( P < 0.01). The cure rate of LEEP was 98.6%. Among the 151 cases, 134 (88. 7%) were satisfactory cervical regeneration. Conclusions: LEEP is one of the effective and safe methods for the diagnosis and treatment of CIN.

Objective To investigate the safety and efficacy of ultrasound ablation in treatment of uterine fibroids. Methods Ninety-nine patients with 117 leiomyomas in total treated by Haifu JC focused ultrasound tumor therapeutic system were enrolled in prospective and non-randomized clinical trial in First Affiliated Hospital of Chongqing Medical University and Academy of Military Medical Sciences. Ultrasound ablation was performed guided by real-time ultrasonography under conscious sedation for single session. All patients were followed up at 6 months after treatment. On the day of treatment and after 1 month, patients were given by magnetic resonance imaging(MRI) exam to evaluate the effect of fibroids ablation. At 3 and 6months after treatment, the ratio of ablated area and volume reduction of fibroids more than 50% were evaluated by MRI exam again. The symptoms improvements were evaluated by uterine fibroid symptom (UFS) and complications were analyzed by guideline of society of international radiation (SIR). Results The average ablated area ratio of the target fibroid was (76 ± 24)%. The average reduction in fibroid volume determined by MRI at 3 and 6 months after treatment was (45 ± 21)% and (59 ± 26)%. Which were significantly decreased than those before treatment (P < 0. 05). At 6 months after treatment, 84. 6% (99/117) of patients showed more than 50% volume reduction, the rate of improved symptom score was 92%(66/72). All patients could resume normal daily activities at 2 hours after treatment. The adverse reactions of SIR C - D included delayed hospitalization, repeat treatment and increased level of nursing. E - F included permanent sequelae and death. In this study, no adverse reactions of C - F were recorded. Common complications (SIR A- B, only observation or simple management without sequelae) were 35% (35/99).Four cases with adverse reactions B of SIR were found, including 2 cases with skin burning of degree Ⅱ and 2 cases with febrile, they were administered by symptomatic therapy and changing dressing The other adverse reaction A of SIR included sorness of buttock, vaginal discharge, dysuria and painful urination, they were only suggested by follow-up. Conclusion It was efficacy and safe that ultrasound ablation as a single strategy were used in treatment of uterine fibroids.