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OBJECTIVE@#To explore the genetic etiology of a child with autism, mental retardation and epilepsy.@*METHODS@#Conventional G-banding chromosomal analysis was carried out. Chromosomal variation was also detected by single nucleotide polymorphism microarray (SNP array). Pathogenic mutations were screened by high-throughput sequencing and validated by Sanger sequencing. Pathologic significance of the candidate mutations was analyzed through search of database and literature review.@*RESULTS@#No karyotypic abnormality was found with the child and his parents, while SNP array has detected a 460 kb deletion in the 14q11.2 region in the child. High-throughput and Sanger sequencing revealed a novel mutation of the NALCN gene in the child, in addition with a hemizygous mutation of the COL4A5 gene in the child and his mother.@*CONCLUSION@#The 14q11.2 microdeletion and NALCN mutation may contribute to the autism, mental retardation and epilepsy in this child.
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Objective To evaluate the characteristics and treatment of ovary torsion after controlled ovarian hyperstimulation.Methods Between Jan.2008 and Dec.2011,5 cases with ovary torsion who underwent ovarian hyperstimulation were retrospectively studied.Results Five cases presented intermittent lower abdominal from I to 38 days after oocyte retrieval.Enlargement of ovary and decreased or absent venous and/or arterial flow were demonstrated by Doppler sonography.Two torsions at left side,two torsions at right side,and one on bilateral side were observed.Three cases give up embryo transplantation,2 cases were pregnant after surgical treatment.One case with partial torsion was successfully treated with simple conservative treatment.Two cases with complete torsion were performed adnexectomy by laparotomy.One case with complete torsion with early pregnancy was managed by laparoscopic adnexectomy.One case with chemical pregnancy was managed by laparoscopic detorsion for left side and excision for right side.Postoperative pathology of ovary tissue all confirmed haemorrhage and necrosis.Conclusions Ovary torsion might occur after controlled ovarian hyperstimulation.The early management on ovary torsion will be benefit for preserving ovarian function.
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One hundred and twenty-two infertile women with polycystic ovary syndrome (PCOS) and 112 infertile women without PCOS were interviewed with symptom checklist 90 ( SCL-90) and questionnaire of demographic and clinical characteristics to understand their psychological health status. Results demonstrated that scores of depression, interpersonal sensitivity, obsessive-compulsive and aggressive symptoms in infertile patients with PCOS were significantly higher than those in non-PCOS infertile ones (P < 0. 05 ). Acne had negative effect on their psychological health status (OR =3. 379, 95% CI = 1.096 ±10.419) . Scores of somzatization, interpersonal sensitivity, anxiety, obsessive-compulsive, aggressive and paranoid ideation symptoms were significantly higher in secondary infertile patients with PCOS than those in primary infertile ones (P<0. 05). Patients with PCOS had obviously psychological problems, especially in secondary infertile patients with PCOS ( P < 0. 05 ). Thus, it is suggested that psychological health status be evaluated in clinical diagnosis for infertile women so that they can be predicted and treated to improve its effectiveness.
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Objective To investigate factors that correlated to compliance of treatment in infertile patients with polycystic ovary syndrome (PCOS) to provide basis for clinical treatment, specialist consultation and health education. Methods Compliance was assessed by a questionnaire designed by reference to Morisky-Green test and therapeutic principles for PCOS. Interviews were performed in 128 infertile patients with PCOS in Renmin Hospital of Wuhan University, Wuhan, Hubei in China during March 2009 to September 2010. Data were analyzed with logistic regression. Results Logistic regression analysis revealed that a total of 41 (34.2% ) of 120 participants investigated showed good compliance. Factors that might significantly (P ＜ 0.05 ) correlate compliance of treatment included body mass index (BMI) of the patients ( OR = 2.426, 95% CI = 1.428 - 4.121 ), length of their marriage ( OR = 0.398, 95% CI =0.225 - 0.704) and their concerns for adverse drug reactions ( OR= 0.216, 95% CI = 0.067 - 0.694).Conclusions Patients with obesity, shorter length of marriage and concerns for adverse drug reactions show lower compliance. Publicity and intervention to those patients should be strengthened in clinics to improve their treatment compliance in patients with PCOS.
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This study examined the impact of luteinized unruptured follicle (LUF) on endometrial receptivity. The menstrual cycle of 17 LUF patients (LUF group) and 13 ovulatory women (control group) was monitored by measuring LH level in urine and by ultrasonic examination. An endometrial biopsy at the sixth to tenth day after LH surge was taken in all the patients. The expressions of endometrial ER, PR and integrin ανβ3 were immunohistochemically determined. At the same time, the serum levels of E(2) and P were detected by chemiluminescence. The results exhibited that (1) The mean serum P level in LUF group (7.32±2.56 ng/mL) was significantly lower than that in control group (11.17±3.17 ng/mL) (P0.05); (2) The mean expression intensities of ER, PR in endometrium of LUF group (183.86±2.43, 167.94±3.04) were significantly higher than those in control group (109.35±6.31, 105.98±4.07) (P0.05). It was concluded that the depression of serum P levels in LUF patients was closely related to the failure of the down-regulation of ER and PR, and the low expressions of integrin ανβ3 also suggested that the delayed implantation and the impaired endometrial receptivity had impact on embryonic implantation.
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BACKGROUND: Whether overweight and obesity have impact on the outcome of in vitro fertilization and embryo transfer (IVF-ET) treatment remains poorly understood.OBJECTIVE: To investigate the effect of women's body mass index (BMI) on the outcome of IVF-ET treatment. METHODS: A total of 184 cases were divided into 3 groups according to BMI: lankness group (BMI < 18.5 kg/m2), normal group (18.5kg/m2 ≤ BMI < 24 kg/m2), overweight and obesity group (BMI≥ 24 kg/m2). Treatments of ovulation induction and IVF-ET were regularly performed in the Reproductive Medical Center, Renmin Hospital of Wuhan University. The duration and dose of gonadotrophic hormone (GTH) treatment, estradiol level at the day of human chorionic gonadotropin (hCG) injection, and the differences of retrieved oocytes numbers, fertility rate, embryo quality, implantation rate, pregnancy rate and abortion rate were compared.RESULTS AND CONCLUSION: The dose of GTH used was in the overweight and obesity group was greater than that of the other groups (P< 0.05), and the dose was increased with BMI increasing. There was no significant difference in other aspects such as estradiol level, retrieved oocytes numbers, fertility rate, embryo quality, implantation rate, pregnancy rate and abortion rate at the day of hCG injection among the three groups (P> 0.05). All results demonstrated that overweight and obese patients require a higher hCG dose to achieve follicular maturation than normal weight patients. However, overweight and obesity does not affect negatively results of IVF-ET.
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BACKGROUND: Considerable debate exists which factors influence the outcomes of the vitrified frozen-thawed embryo transfer because lack of clinical applications.OBJECTIVE: To explore the factors influencing the outcomes of the vitrified frozen-thawed embryo transfer in assisted reproductive technology.METHODS: A retrospective statistical analysis was performed in Reproductive Medicine Center, Renmin Hospital of Wuhan University of 142 patients, 154 thawing cycles. The patients were grouped according to the age of patients, embryonic development, fertilization methods, endometrial preparation programs, the endometrial thickness, the process of transplantation and the survival cell ratio of embryo recovery, the implantation rate and clinical pregnancy rate were compared between various groups.RESULTS AND CONCLUSION: Among the groups of the different age, fertilization methods, endometrial preparation programs, endometrial thickness and the process of embryo transfer embryo implantation rate and clinical pregnancy rate were no significant difference (P > 0.05); between the two groups of the second day fertilized embryos (D2) and the third day (D3)fertilized embryos, the clinical pregnancy rate was not significant (P> 0.05), but the embryo implantation rate of D3 group was significantly higher than D2 group. The survival cell ratio of embryo recovery has a significant effect on implantation rate and clinical pregnancy rate (P < 0.05). Ln the frozen-thawed embryo transfer cycles, embryo quality plays a major role in pregnancy rate, and preparation for appropriate endometrial thickness can improve the clinical pregnancy rate.
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Objective To know prevalence of depression, its coping strategies and risk factors among infertile women with in vitro fertilization and embryo transfer (IVF-ET) or intracytoplasmic sperm injection. Methods Infertile women with IVF-ET were interviewed with center for epidemiologic studies short depression scale (CES-D10) and an abbreviated version of the COPE inventory (brief COPE), and their basal sex hormone values and estradiol ( E2 ) on the day of human chorionic gonadotropin (HCG) administration were monitored, as well as the number of oocytes yielded was counted. Results Prevalence of depression was 20.6% in infertile women, higher in those with more than eight years of marriage, infertility for more than six years, and receiving treatment for at least three years. Risk of depression among the women of infertility with monthly family income less than 3000 yuan was 14 times as those with more than 3000 yuan and risk of depression among them due to the factors of their husbands was 2/5 as those not due to men's. Depressive symptoms in the women increased with increasing of their basal follicle stimulating hormone (FSH) level, counted egg number and scores of denial items. Occurrence of their depressive symptoms decreased with higher basal E2 levels, and scores of substance use and humor. Conclusions Some infertile women with IVF-ET do have depression and preventive intervention should be aimed at related factors for depression to improve their psychological health.
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A cross-sectional study in 116 patients with polycystic ovary syndrome (PCOS) was carried out by using the short-form-36 health survey (SF-36), serf-rating anxiety scale ( SAS), and self-rating depression scale (SDS) from January 2008 to April 2008 in our reproduction center. In comparison with the healthy controls, the PCOS patients showed decreased quality of life (QOL) for all items of SF-36 (P<0.05) except for body pain or role-physical scales. The differences in SAS and SDS between the PCOS and the healthy controls were statistically significant (P<0.05). Our study results confirm the negative impacts of PCOS over the quality of life;subfertility, obesity, hirsutism, acne, complications, menstrual irregularity and educational levels might contribute to the reduced QOL.
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Objective To investigate endometrium receptivity in patients with luteinized unruptured follicle(IUF)by measuring the expression of estrogen receptor(ER),progesterone receptor(PR)and integrin αVβ3 in the endometriunm Methods From May 2007 to Nov.2007,17 infertile women with LUF were selected as LUF group matched with 13 infertile cases with normal ovulation as control group.They all underwent frozen-thawed embryo transfer in Reproductive Medicine Center.Renmin Hospital of Wuhan University.Endometrial tissue in anterior and posterior wall of uterus of LUF group and control group were biopsied by a small curettage between 7 and 11 days after luteinizing hormone(LH)surge.The expression of ER,PR and integrin αVβ3 in endometriam were detected by immunohistochemistry staining.The level of estrogen and progesterone were measured by chemiluminescence assay.Then,the relationship between αVβ3 expression in endometrium and the level of estrogen/progesterone were analyzed in LUF patients.Results (1)There was no remarkable difference in the level of estrogen between LUF [(656±299)pmol/L]and control group[(727±275)pmol/L,P>0.05].However,the level of progesterone were(23±8)nmol/Lin LUF group and(35±10)nmol/L in control group,which reached statistical difference(P<0.01).(2) The expression of ER,PR in endometrium of LUF patients were 183.9±2.4 and 168±3.which were significantly higher than 109.4±6.3 and 106±4 in control group(P<0.01).The expression of integrin α Vβ3 in endometrium of 115±11 in LUF group were significantly lower than 191±9 in control group(P< 0.01).(4)In LUF group,the expression of αVβ3 in endometrium waft correlated positively with the level of progesterone(r=0.77,P<0.01)and irrelevant with the level of estrogen(r=0.01,P>0.05).Conclusion The higher expression of estrogen and progesterone and lower expression of integrin αVβ3 misht confer impaired receptivity of endometrium and interfere with embryo implantation.
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Four hundred and five pregnant women whose husbands had positive HBeAg,HBsAg and anti HBc were recruited in the study.Among them.218 women with positive HBsAb were completely randomized into group A and group B,while 187 cases with negative HBsAb formed group C.Women in group A and group C were injected with hepatitis B immunoglobulin(HBIG)before delivery.All newborn babies in 3 groups received routine HCV vaccination.in addition babies in group A and group C also received HBIG iniection within 24 h after birth.The HBV infeetion rate of newborns was 12.1%in group A,12.8%in group B and 23.0%in group C respectively.
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Effect and safety of repeated embryo aspiration for reduction of muhifetal cervical pregnancy Was retrospectively evaluated.Three women with muhifetal cervical pregnancy successfully received conservative treatment of repeated embryo aspiration under the guidance of transvaginal ultrasound,and the gestational sac contents were aspirated completely.Local(2.5～5.0 mg injectable methotrexate,MTX) or systemic medication was used.Our findings showed that repeated embryo aspiration for reduction of cervical multifetal pregnancy could improve the coupe of disease,decrease systemic medication of MTX,and discontinue a cervical pregnancy within 8 weeks effectively and safely.However,the mminimum therapeutic dose of MTX remained to be explored.
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Objective To explore the clinical value of hysteroscopy combined with laparoscopy in the diagnosis and treatment of congenital uterine malformation. Method The clinical data of 53 cases with congenital uterine malformation being diagnosed and treated by hysteroscopy combined with laparoscopy were analyzed retrospectively. Results The 53 diagnosed cases included 25 with incomplete uterus septum, 14 with complete uterus septum, 4 with rudimentary horn of uterus, 3 with unicomuate uterus, 2 with bicornuate uterus, 3 with double-uterus, 2 with bicorbate uterus. Hysteroscopy combined with laparoscopy could diagnose the lesions in the uterine and the abdominal cavity, also could rectify the uterine malformation simultaneously. Ultrasound, hysterosalpingography, hysteroscopy all could not diagnose the uterine malformation completely correct, but hysteroscopy combined with laparoscopy could do. Conclusion Hysteroscopy combined with iaparoscopy is safe and effective, which can be the first-line selection for the diagnosis and treatment of congenital uterine malformation.
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Objective To investigate the clinical effect of hysteroscopic treatment of septate uterus with Neodymium: YAG laser. Methods Forty-six sterile patients with septate uterus received hysteroscopic metroplasty with Nd: YAG laser.The metroplasty was completed under the guidance of B-ultrasonography in 41 patients with incomplete septate uterus,and with the assistance of laparoscopy in other 5 patients with complete septate uterus.Results The metroplasty was successfully conducted on one session in 45 patients,the success rate being 98%(45/46).Postoperative follow-up examinations in 28 patients found pregnancy within 1 year in 20 patients,16 of whom delivered of a viable term infant,the pregnancy rate within 1 year being 71%.Conclusions Hysteroscopic treatment of septate uterus with Nd: YAG laser is effective.The uterine neck may not be excessively dilated,the intraoperative bleeding can be thoroughly controlled,and the procedure under general anesthesia is relatively safe.
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Objective To investigate the association factors affecting the course of IVF/ICSI-ET. Methods The clinical data of 348 cycles of IVF/ICSI-ET in patients with different causes of infertility were analyzed retrospectively. Results Ovarian reserve and response to stimulation declined with aging. The ability of bFSH predicting ovarian response was low. E 2 peak concentration, number of big follicle and retrieved oocytes decreased significantly when bFSH concentration evelated. The number of big follicle and retrieved oocytes obviously increased with the E 2 peak concentration increasing. The number of antral follicle and volume of ovary were positive relation with ovarian response. None of the factors above could predict the outcome of IVF indenpedently. Conclusion Age was strongly associated with ovarian reserve and response. The bFSH level was one of the indices reflecting ovarian reserve, and had the limited capability for predicting ovarian response and IVF outcome.E 2 peak concentration could not predict the IVF consequence. The number of total antral follicle and volume of ovary were the most direct index reflecting ovarian response. The conditions of patients should comprehensively be evaluated to raise the pregnant rate of IVF.
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Objective:To study the relationship between luteinizing hormone(LH) ?-subunit gene Gly102Ser polymorphism and polycystic ovary syndrome and premature ovarian failure. Methods: The LH? gene Gly102Ser polymorphism was analyzed in polycystic ovary syndrome(70 cases),premature ovarian failure(34 cases) and normal group(90 cases) by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP). Results: The LH? gene allelic frequencies of A,G were 0.100, 0.900;0.079,0.921;0.017,0.983 in PCOS,POF and control groups, respectively. The A allele frequencies of LH? gene in PCOS and POF were higher than those in control groups(? 2=10.872,4.413,P0.05). Conclusion: The LH? gene Gly102Ser polymorphism exists in both PCOS and POF people,which is associated with PCOS but not related to POF,and might be a risk factor for PCOS.
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Objectives To evaluate the fetal blood flow velocity waveforms (FVWs) in relation to the perinatal outcomes. Methods 46 normal term pregnant women and 32 high risk pregnant women were examined with colour doppler ultrasound for their FVWs of umibilical artery (UmA). middle cerebral artery (MCA) and renal artery (RA). Results The resistance index (RI),pulsatile index(PI) and ratio of systolic to diastolic flow velocity(S/D) of UmA and RA were higher and the PI,S/D of MCA were lower significantly in the high risk pregnancy group than that of normal pregnancy group (P