HOX A10 and HOX A11 mutation scan in congenital malformations of the female genital tract.

Homeobox (HOX) genes encode a number of transcription factors, expressed along the developmental axis of the female genital tract during the embryonic period. Because HOX A10 and HOX A11 genes are expressed in the embryonic paramesonephric (Müllerian) ducts, abnormally low expression by mutant HOX A10 and HOX A11 genes might cause genital tract anomalies. This case-control study examined if one or more mutations in the HOX A10 and HOX A11 genes are included in the pathogenesis of the female genital tract anomalies. Blood samples were obtained from 30 women diagnosed with malformations of the genital tract (18 with septate uterus, three with bicornuate uterus, two with didelphys uterus, two with unicornuate uterus and five with aplasia/dysplasia) and 100 normal controls. DNA samples prepared from blood leukocytes were used as templates for polymerase chain reaction amplification of DNA fragments from HOX A10 and HOX A11 genes. The gene fragments were tested for DNA sequence differences using single-strand conformation polymorphism analysis and sequenced when genetic variation was detected. No subject showed a plausible causative mutation in HOX A10 or HOX A11; the sole variant observed (P38R) found in a patient with septate uterus was also present in her clinically normal mother.

Placenta abruption in a woman with Wilson's disease: a case report.

Wilson's disease is a rare genetic disorder of copper metabolism that causes primary hepatic cirrhosis, secondary menstrual abnormalities and infertility. Following the appropriate therapy patients are asymptomatic and pregnancy may be achieved. We present a case of placental abruption in a pregnant woman with Wilson's disease and we review the management dilemmas and treatment options of pregnant women with Wilson's disease.

Women's expectations and intention to terminate pregnancy in case of abnormal findings at the second trimester level II ultrasound scan. A prospective, questionnaire-based, cross-sectional survey.

OBJECTIVE: The aims of this study were: (1) to explore pregnant women's background knowledge and expectations of 2nd trimester ultrasound screening, and (2) to investigate women's intentions to proceed to pregnancy termination if fetal anomaly is detected at the 2nd trimester ultrasound screening. METHODS: A prospective, cross-sectional, questionnaire-based study. 300 consecutive pregnant women served as a convenience sample for this study. All the women had had a detailed, 2nd trimester, fetal anomaly scan. The questionnaire was a standardized but not validated, purpose-built structure consisting of five parts: (a) demographics, (b) anamnesis and obstetric history, (c) perceived aim of the scan, (d) expectations from the scan, and (e) intention to terminate pregnancy in case of fetal malformation diagnosis. Statistical analysis was performed with the SPSS 12.0 for Windows. RESULTS: The participants' mean age was 31.3 (21-45) years. 89.3% of the women filled in the questionnaire. The main reasons for the scan, according to the women, were to exclude fetal abnormalities and to assess the fetal karyotype. The main maternal expectations from the scan were to reduce maternal anxiety and to identify fetal malformations. 75.3% of the women were willing to terminate their pregnancy if fetal abnormalities were detected. Older women more commonly opted for pregnancy termination. CONCLUSION: The majority of participants have a correct notion about the aim of the ultrasound scan, their expectation is mainly anxiety reduction and a high percentage would proceed to pregnancy termination in the event of the detection of a fetal abnormality.

Comparison between 20G and 22G needle for second trimester amniocentesis in terms of technical aspects and short-term complications.

OBJECTIVE: To compare short-term complications of amniocentesis using 20G versus 22G needle. METHODS: A total of 200 women referred for mid-trimester amniocentesis were randomized to a 20G (Group I, n = 100) or 22G amniocentesis needle (Group II, n = 100). The primary outcome was intrauterine bleeding at needle insertion. The operator reported technical aspects and patient's reactions immediately after the procedure. Women's perception of discomfort 30 min after the procedure and complications after 2 weeks were recorded. RESULTS: Intrauterine bleeding at needle insertion was similar between groups (4/100 vs 8/100). When only transplacental taps were analyzed, bleeding was significantly lower in Group I (4/20 vs 8/14, p = 0.035). Fluid retrieval was faster in Group I (9.6 vs 26.8 sec, p < 0.001). In all, 65% of women in Group I versus 30% in Group II reported discomfort during the procedure, although discomfort 30 min after the procedure and complications within 2 weeks after the procedure were similar in the two groups. CONCLUSION: Amniocentesis with 20G needle is associated with lower risk of intrauterine bleeding in case of transplacental needle insertion and allows for faster fluid retrieval, as compared with 22G needle. Nevertheless, 20G needle is associated with more immediate discomfort during the procedure.

Comparison of diagnostic accuracy of transvaginal ultrasound with laparoscopy in the management of patients with adnexal masses.

PURPOSE: The aims of this study was (a) to compare the diagnostic accuracy of ultrasound examination with laparoscopic findings and both with the gold standard (histology) in the management of benign ovarian lesions, and (b) to assess the feasibility of laparoscopy in their diagnosis and management. METHODS: Prospective, comparative study (Canadian Task Force Classification II-2). A total of 117 women 15-59 years old were examined at outpatient department and had transvaginal ultrasound assessment. Ninety-eight women (three postmenopausal) with 105 cystic ovarian lesions met inclusion criteria and underwent operative laparoscopy. Histology was performed in all cases. RESULTS: Although laparoscopy showed an overall higher performance compared to transvaginal ultrasound, statistically significant difference was found only in the detection of endometriomas compared to ultrasound (P = 0.004 for sensitivity and P = 0.046 for specificity). CONCLUSION: Laparoscopy exhibits higher diagnostic accuracy, especially in endometriomas, compared to transvaginal scan. Laparoscopic diagnosis appears to be safe and accurate. Conservative laparoscopic management of benign adnexal masses is safe and with low morbidity.

Levonorgestrel-releasing intrauterine system vs. endometrial thermal ablation for menorrhagia.

OBJECTIVE: To evaluate the efficacy of a Levonorgestrel-releasing Intrauterine System (LNG-IUS) in controlling menorrhagia in comparison with endometrial thermal rollerball ablation. DESIGN: Seventy-nine consecutive patients with menorrhagia underwent either LNG-IUS insertion (n=42) or hysteroscopical endometrial thermal rollerball ablation (n=37) in a prospective, observational, comparative study. Women reported duration of uterine bleeding in days prior to, and six and 12 months after each intervention. Prior to each intervention, endometrial, cervical or other pathological conditions of the genital tract were excluded. GnRH analogues for endometrial suppression were given for ten weeks before endometrial ablation but not prior to LNG-IUS insertion. RESULTS: There were no differences in duration of uterine bleeding before each intervention in the two groups. The duration of uterine bleeding was lower in the LNG-IUS group as compared with endometrial ablation at six (p<0.001) and 12 months (p<0.001) after each intervention. Furthermore, the effect on reduction of bleeding was stronger in the LNG-IUS group as compared with the endometrial ablation group at six (p<0.001) and 12 months (p<0.001). CONCLUSIONS: The LNG-IUS was more efficacious than endometrial thermal ablation in reducing duration of uterine bleeding at six and 12 months post-intervention.

Laparoscopic management of mesenteric cyst: a case report.

Mesenteric cysts are rare intra-abdominal lesions with variable clinical symptoms and signs that make pre-operative diagnosis difficult. Optimal treatment is surgical excision of the cyst with laparotomy or laparoscopy. We present a case of mesenteric cyst that was misdiagnosed as para-ovarian cyst and managed laparoscopically by gynaecologists.

How to improve the probability of pregnancy in poor responders undergoing in vitro fertilization: a systematic review and meta-analysis.

OBJECTIVE: To systematically review the literature to identify randomized controlled trials, which evaluate interventions aiming to improve the probability of pregnancy in poor responders undergoing in vitro fertilization (IVF). DESIGN: Systematic review and meta-analysis. SETTING: University-based hospital. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Pregnancy rate. RESULT(S): Twenty-two eligible randomized controlled trials were identified that evaluated in total 15 interventions to increase pregnancy rates in poor responders. Based on limited evidence, the only interventions that appear to increase the probability of pregnancy were the addition of GH to ovarian stimulation (odds ratio for live birth: 5.22, confidence interval: 95% 1.09-24.99) and the performance of embryo transfer on day 2 compared with day 3 (ongoing pregnancy rate: 27.7% vs. 16.3%, respectively; difference: +11.4, 95% confidence interval: +1.6 to +21.0). CONCLUSION(S): Insufficient evidence exists to recommend most of the treatments proposed to improve pregnancy rates in poor responders. Currently, there is some evidence to suggest that addition of GH, as well as performing embryo transfer on day 2 versus day 3, appear to improve the probability of pregnancy.

Complete uterine inversion during caesarean section: A case report.

Inversion of the uterus through the uterine lower segment incision during a caesarean section is an extremely rare obstetric incident. It consists, though, an emergency complication that is potentially life-threatening, especially in cases of prolonged inversion, because haemodynamic instability and shock may occur. Prompt diagnosis and immediate uterine reversion are the key actions in the management of this serious complication.

Ultrasound and MR-imaging in preoperative evaluation of two rare cases of scar endometriosis.

Scar or incisional endometriosis is a rare, often misdiagnosed, pathologic condition of the abdominal wall. Two cases of incisional endometriosis are presented. Both patients presented with atypical cyclic pain and palpable nodules on scars of previous cesarean sections. In both cases, the mass was totally excised, after accurate preoperative evaluation with 2-D ultrasound, power Doppler and MRI. Microscopic examination confirmed the preoperatively presumed diagnosis of cutaneous endometriosis. In cases of suspected scar endometriosis, preoperative diagnostic imaging is valuable in determining the extent of disease, thus enhancing accurate and total excision.

Adeno-associated virus infection and cervical neoplasia: is there a protective role against human papillomavirus-related carcinogenesis?

The aim of this study was to investigate whether adeno-associated virus (AAV) infection can be associated with a reduced risk for human papillomavirus (HPV)-related cervical neoplasia. The study was a prospective descriptive analysis of the prevalence of AAV and HPV DNA sequences in women with and without neoplastic cervical lesions. The study population consisted of 373 women aged 19-65 years old who attended the outpatient colposcopy clinic of a tertiary university center. Cytologic and colposcopic examination, as well as AAV-DNA and HPV-DNA detection and typing were performed in all individuals; biopsies (histological verification) and treatment were performed as appropriate. Women with normal Papanicolaou smear test and normal colposcopic findings served as the control group (n=280). Those with histologically proven cervical pathology were categorized into three groups: (a) women with grade 1 cervical intraepithelial neoplasia (CIN 1) (n=31), (b) women with grades 2 and 3 cervical intraepithelial neoplasia (CIN 2, 3) (n=45), and (c) women with invasive cervical cancer (n=17). AAV infection was confirmed in 63 (16.80%) women. AAV detection was not statistically different between HPV (-) and HPV (+) controls (P=0.06). In the disease groups, however, the prevalence of AAV was statistically significantly lower in the HPV (+) relative to the HPV (-) patients (P=0.0009, P=0.00001, and P=0.0225, for women with low-grade cervical lesions, for women with high-grade cervical lesions, and for women with cervical cancer, respectively). No difference in the prevalence of AAV DNA between HPV-positive and HPV-negative unaffected (control) women is observed. Nevertheless, our results indicate that HPV-infected individuals are less likely to develop cervical neoplasia if AAV is present, and that AAV probably demonstrates a protective role against the pathogenic consequences of HPV infection.

Genome-wide microarray gene expression, array-CGH analysis, and telomerase activity in advanced ovarian endometriosis: a high degree of differentiation rather than malignant potential.

The aim of the present study was to investigate whether endometriosis and cancer share common molecular characteristics. Tissue samples were collected prospectively during diagnostic laparoscopy of patients with primary infertility. Using high-density oligonucleotide microarrays, (Affymetrix Gene Chip HG-U133 Set) the genome-wide gene expression profile of advanced ovarian endometriosis was analyzed compared with matched normal endometrium. Expression of TERT, the gene encoding the telomerase reverse transcriptase subunit, and telomerase activity were analyzed in eutopic and ectopic endometrium. Genome-wide, high-resolution array-CGH was used to screen for genomic aberrations in endometriosis. Expression microarray data were validated quantitatively with RT-PCR. The genes RARRES1 and RARRES2 (retinoic acid receptor responder 1 and 2) were found to be up-regulated in endometriosis, suggesting a high degree of differentiation. Consistently, down-regulated genes included those involved in the cell cycle, cell metabolism and homeostasis. Expression of TERT and telomerase activity were present in eutopic but absent in ectopic endometrium. Array-CGH revealed a normal genomic pattern without gross amplifications and deletions. In conclusion, these data suggest that advanced ovarian endometriosis represents a highly differentiated tissue with minimal or no malignant potential.

ThinPrep are superior to conventional smears in the cytological diagnosis of subfertile men by testicular fine-needle aspiration.

The aim of this study was the comparison of liquid-based cytology (ThinPrep, TS) to conventional smears (CS) in the investigation of subfertile men with testicular fine-needle aspiration (FNA). Between January and December 2004, testicular FNA biopsies were performed in 30 subfertile men. Both TS and CS were diagnosed according to Meng classification. Features specifically recorded in each smear included sample adequacy, tissue cells preservation, contamination with red blood cells, quality of smear background, ease of cell recognition, and the cytological diagnosis. There was agreement in the cytological diagnosis between TS and CS (P = 0.88) and sample adequacy (P = 0.73). TS was superior to CS regarding cell preservation, presence of red blood cells or tissue artifacts, quality of the smear background, and cell recognition (P < 0.0001). In testicular FNA cytology, TS appear to be superior to CS in respect to cell preservation, absence of red blood cells, background quality, and cell recognition. These advantages, however, are not translated in improved cytological diagnosis.

Laparoscopic excision of uterine adenomyomas.

OBJECTIVE: To present a series of six consecutive women with adenomyomas who were successfully managed with a standard treatment strategy to elucidate the feasibility and the effectiveness of laparoscopic treatment of adenomyomas. DESIGN: Cross-sectional case series. SETTING(S): Obstetrics and gynecology department of a tertiary academic hospital and endoscopic unit of a private hospital. PATIENT(S): The six cases described in this report were nonpregnant women of reproductive age (mean age, 34.8 years old; range, 29-38 years) who presented in the outpatient gynecological clinic for yearly routine visit (one patient), dysmenorrhea and menorrhagia (three patients), and history of pregnancy loss (two patients). INTERVENTION(S): Laparoscopic excision of uterine adenomyomas. MAIN OUTCOME MEASURE(S): Feasibility and effectiveness of laparoscopic management of adenomyomas. RESULT(S): The average operating time was 100.5 minutes, and the average estimated blood loss was 163 mL. No event complicated the intraoperative and the postoperative course of these cases, and no case was converted to laparotomy. The mean follow-up was 13.7 months, with complete regression of the symptoms. CONCLUSION(S): Excision of adenomyomas presents intraoperative peculiarities involving difficulties in their dissection and manipulation. Laparoscopic management of these lesions appears to be safe and feasible with good follow-up results and limited recurrence rates.

Pregnancy rates after hysteroscopic polypectomy depending on the size or number of the polyps.

OBJECTIVE: To assess the reproductive benefits of hysteroscopic polypectomy in previous infertile women depending on the size or number of the polyps. DESIGN AND METHODS: In this retrospective study, from February 2000 to September 2005, totally 83 selected women were included with: a) diagnoses of primary or secondary infertility, endometrial polyp/polyps and abnormal uterine bleeding. Endometrial polyps were diagnosed by transvaginal ultrasound followed by diagnostic hysteroscopy, to confirm diagnosis, and hysteroscopic polypectomy. All 83 subjects who consisted the study group, met inclusion criteria: age under 35 years, at least 12 months of infertility, from 3 to 8 months menstrual disorders (intermenstrual bleeding or spotting, menometrorrhagia or menorrhagia) and from 3 to 18 months of follow-up with attempts to conceive after hysteroscopic polypectomy. The endometrial polyp/polyps appeared to be the only reason to explain their infertility after infertility workup of the couples. There was a comparison of fertility rates after hysteroscopic polypectomy between patients having endometrial polyp < or = 1 cm and patients with bigger or multiple polyps. RESULTS: Of the 83 subjects, all were found to have endometrial polyps in diagnostic hysteroscopy, confirmed at histologic examination after hysteroscopic polypectomy. Among patients of the study group, there were no significant differences in age, type or length of infertility, or follow-up period after the procedure. The mean size of the endometrial polyps was 1.9 +/- 1.4.cm. Thirty-one patients had endometrial polyp < or = 1 cm and 52 patients had bigger or multiple endometrial polyps. Following polypectomy, menstrual pattern was normalized in 91.6% of patients. Spontaneous pregnancy and delivery at term rates, in the total population of the study, increased after the procedure and were 61.4% and 54.2% respectively. There was no statistical difference in fertility rates between patients having polyps < or = 1 cm and patients having >1 cm polyps or multiple polyps. Spontaneous abortion rate in the first trimester of pregnancy was 6% of the total number of patients and there was no statistical difference between patients with small or bigger/multiple polyps. Type of infertility did not affect fertility rates after hysteroscopic polypectomy. Complication rate after hysteroscopic polypectomy was as low as 2.4%, while recurrence rate of the procedure reached 4.9% of patients. CONCLUSION: Hysteroscopic polypectomy of endometrial polyps appeared to improve fertility and increase pregnancy rates in previous infertile women with no other reason to explain their infertility, irrespective of the size or number of the polyps. Type of infertility of patients seems not to affect fertility rates after hysteroscopic polypectomy. Menstrual pattern was normalized in the majority of patients after hysteroscopic polypectomy. In addition, hysteroscopic polypectomy is a safe procedure with low complication rate.

Gluteo-vaginal sinus formation complicating posterior intravaginal slingplasty followed by successful IVS removal. A case report and review of the literature.

Posterior intravaginal slingplasty (IVS) is a technique used for the treatment of apical prolapse. Type III meshes have been mostly used with this technique. In this article, a case of bilateral gluteo-vaginal sinus tract formation that complicated a posterior vaginal slingplasty with a type III mesh is presented. At 3 months follow-up, the patient complained for bulking through the vagina, continuous offensive vaginal discharge, and constant pain at the buttocks. She had prolapse recurrence, and there was defective healing at the gluteal entry points of the posterior IVS. Ten months after the initial surgery, she underwent a laparotomic subtotal hysterectomy and sacrocervicopexy with prolene type I mesh. At the same time, the posterior mesh was removed allowing the surgeon to discover communication of the canal of the mesh extending from gluteal incisions to the vagina epithelium. The sinus tract was managed surgically with excision of the surrounding tissues. There was no recurrence or other complications at 2 months follow-up.

Glutathione-S-transferase M1 and T1 and cytochrome P1A1 genetic polymorphisms and susceptibility to cervical intraepithelial neoplasia in Greek women.

The aim of the study was to determine the importance of genetic polymorphisms of glutathione-S-transferase T1 and M1 and cytochrome P1A1 genes in the development of cervical intraepithelial neoplasia in Greek women. This was a prospective, case-control study conducted by the Cervical Pathology and Colposcopy Unit of a University Ob/Gyn Department from 1999 to 2003. Cervical smears from 114 controls without any cytological and/or colposcopical evidence of cervical pathology and from 166 women with history of cervical intraepithelial neoplasia (56 CIN I, 54 CIN II and 56 CIN III) were examined with polymerase chain reaction for the above-mentioned genetic polymorphisms, taking also in mind their smoking attitudes. Statistical analysis was performed to detect any association between the null genotype of GSTM1 and GSTT1 genes and the CYP1A1 m1 polymorphism and the severity of cervical intraepithelial neoplasia. The distributions of the GSTT1 and GSTM1 wild-type genotypes were 57.48 and 39.75%, respectively. No woman with homozygous GSTT1 and GSTM1 null/null genotype was identified. CYP1A1 m1 polymorphism frequency was 24.49%. No woman with homozygous CYP1A1 m1/m1 genotype was detected as well. No significant difference in the frequencies of the GSTM1 and GSTT1 null alleles, and the CYP1A1 m1 polymorphism, was found between cases and controls. After application of Mantel-Haenszel chi procedure, there was no linear severity of the lesion and the frequency of these polymorphisms. According to our results, glutathione-S-transferase T1 and M1 and cytochrome P1A1 genetic polymporphisms do not appear to be a risk factor for cervical disease irrespective of smoking habits.

Pregnancy and oral health: utilisation of dental services during pregnancy in northern Greece.

BACKGROUND: Recent studies have shown that gingivitis and periodontal infection during pregnancy represent an independent risk factor for pre-term birth. However, little is known about the prevalence and correlates of dental attendance during pregnancy. METHODS: During the first 3 days postpartum, an anonymous questionnaire was administered to 425 women in order to explore their dental condition and utilisation of dental health services during pregnancy, as well as their perceptions on the potential associations between dental care during pregnancy and pregnancy outcomes. RESULTS: Almost half of the respondents (46.8%) reported symptoms of gingivitis during their pregnancy. Pregnancy gingivitis was independently associated with non-Greek ethnicity (p=0.008), multiparity versus primiparity (p<0.005), lower economic class versus middle and upper classes (p=0.001), and the lack of routine primary dental care (p=0.005). Some 27.3% reported a visit to the dentist during their pregnancy. The majority (72.2%) believed that dental treatment during pregnancy might have a negative affect on pregnancy outcome. The presence of pregnancy gingivitis and the belief that dental treatment during pregnancy is safe were both independently associated with visiting a dentist during pregnancy (p<0.0005 for both). CONCLUSIONS: Despite the increased prevalence of dental problems among pregnant women, few women seek dental services in this population, which can be primarily attributed to women's erroneous beliefs regarding the safety of dental examination. Therefore, there is an imperative need to offer oral health education and develop preventive programs for women of reproductive age.

Tibolone therapy in breast cancer survivors: a retrospective study.

AIM: To investigate a possible relationship between tibolone therapy and recurrence or mortality in breast cancer survivors. METHODS: In a retrospective study, data from files of 247 patients who had been treated for breast cancer were analyzed. Twenty women were treated with tibolone because of menopausal symptoms (Group 1: mean duration of tibolone use 37.1 months). One hundred and one women who did not take tibolone were selected as the control group (Group 2). All women were followed up in our Department on our standard protocol (mean follow up: 73.4 months in Group 1, 67.4 months in Group 2). Comparison of the survival curves was applied with the Wilcoxon (Gehan) statistic. Cox regression analysis was also applied in order to identify significant coefficients in the survival curve. RESULTS: Recurrence of breast cancer was observed in two (10%) Group 1 women versus 21 (21%) Group 2 women (P = NS). Two Group 1 women died (one from breast cancer recurrence) versus 15 Group 2 women (14 from breast cancer recurrence). CONCLUSIONS: Despite of the inherent limitations of this small retrospective study, it seems that tibolone does not reveal an apparent negative impact on breast cancer outcome when given to breast cancer survivors.