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.

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.

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.

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.

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.

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.

Laparoscopic management of hydrosalpinx.

Hydrosalpinx is a common cause of female infertility. Lower implantation and pregnancy rates have been reported in women with hydrosalpinges. How hydrosalpinx exerts its negative effect on the implantation process is not clearly understood. Mechanical factors, toxicity of the hydrosalpingeal fluid, and receptivity dysfunction may explain the impaired IVF outcome in the presence of hydrosalpinx. Laparoscopic surgery has a place in the diagnosis and management of hydrosalpinx. Analysis of the results of laparoscopic management of hydrosalpinx underscores the positive role of laparoscopy in fertility outcomes in women with this pathological tubal disease. Laparoscopic salpingectomy should be offered in those women who have bilateral disease or in cases where hydrosalpinges are large enough to be visible on ultrasound. Further randomized trials are required to assess other surgical treatment options for hydrosalpinx, such as laparoscopic salpingostomy, laparoscopic or hysteroscopic tubal occlusion, and drainage of hydrosalpinx before or during oocyte retrieval.

Unilateral vulvar edema after operative laparoscopy: a case report and literature review.

OBJECTIVE: To report a case of unilateral vulvar edema occurring after operative laparoscopy and to review the relevant literature. DESIGN: Case report. SETTING: University hospital. PATIENT(S): An 18-year-old woman with a single ovarian cyst. INTERVENTION(S): The patient underwent laparoscopic ovarian cystectomy and 1,000 mL of adhesion barrier solution was instilled in the peritoneal cavity at the end of the procedure. MAIN OUTCOME MEASURE(S): Treatment of ovarian cyst and prevention of adhesion formation with adhesion barrier solution. RESULT(S): Development of unilateral vulvar edema 3 hours postoperatively. CONCLUSION(S): Vulvar edema after operative laparoscopy is an uncommon complication, the mechanism of which remains unclear. The condition is self-limited and resolves with conservative management.

Aromatase inhibitor anastrozole for treating endometrial hyperplasia in obese postmenopausal women.

This is a preliminary study investigating the efficacy of aromatase inhibitor anastrozole in treating endometrial hyperplasia in obese postmenopausal women. We administered anastrozole for 12 months to 11 obese postmenopausal women with high operative risk, in order to treat endometrial hyperplasia (four simple, five complex and two atypical). Endometrial thickness in all cases and histology too in the two cases with atypia, revealed atrophical endometrium during treatment and additional mean follow-up of 10.2 months. The safety and tolerance profile was satisfactory. Anastrozole appears to be an interesting new modality for the treatment of endometrial hyperplasia in obese postmenopausal women.

The use of Data Mining in the categorization of patients with Azoospermia.

OBJECTIVE: Data Mining is a relatively new field of Medical Informatics. The aim of this study was to compare Data Mining diagnosis with clinical diagnosis by applying a Data Miner (DM) to a clinical dataset of infertile men with azoospermia. DESIGN: One hundred and forty-seven azoospermic men were clinically classified into four groups: a) obstructive azoospermia (n=63), b) non-obstructive azoospermia (n=71), c) hypergonadotropic hypogonadism (n=2), and d) hypogonadotropic hypogonadism (n=11). The DM (IBM's DB2/Intelligent Miner for Data 6.1) was asked to reproduce a four-cluster model. RESULTS: DM formed four groups of patients: a) eugonadal men with normal testicular volume and normal FSH levels (n=86), b) eugonadal men with significantly reduced testicular volume (median 6.5 cm3) and very high FSH levels (n=29), c) eugonadal men with moderately reduced testicular volume (median 14.5 cm3) and raised FSH levels (n=20), and d) hypogonadal men (n=12). Overall DM concordance rate in hypogonadal men was 92%, in obstructive azoospermia 73%, and in non-obstructive azoospermia 69%. CONCLUSIONS: Data Mining produces clinically meaningful results but different from those of the clinical diagnosis. It is possible that the use of large sets of structured and formalised data and continuous evaluation of DM results will generate a useful methodology for the Clinician.

Laparoscopy and oncology: where do we stand today?

The clinical application of laparoscopic surgery has grown rapidly over the last few years. Since the first documentations of laparoscopic lymphadenectomy, many reports highlight the use of modern laparoscopy in the field of gynecologic oncology. Laparoscopic treatment of early-stage cervical and endometrial cancer, and laparoscopic evaluation and staging of cervical, ovarian, and endometrial carcinomas, are feasible procedures. The place of minimal-access surgery in the arsenal of gynecologic oncological surgery has been established, especially after the recent developments and practical application of video laparoscopy, novel instrumentation, and advanced surgical techniques. Although operative laparoscopy in gynecologic oncology is still in its infancy the potentiality of the procedure is underscored. Many patients may benefit from the treatment or staging of gynecologic malignancies with laparoscopic means. Literature reports highlight that laparoscopy may be an effective procedure with lower morbidity and complication rates than traditional abdominal surgery. The short hospital stay and recovery time have a positive impact in a cancer patient's quality of life, as they return to normal activities rapidly. Many risks, though, may arise from the application of minimal-access surgery in cancer patients, and many questions regarding safety and efficacy need answers, based on prospective clinical trials. We must emphasize that such studies with large patient numbers and long-term follow-up are lacking. Until results from these trials are available, laparoscopic oncologic procedures should be performed only in an investigational setting by expert teams.

Postparacentesis bilateral massive vulvar edema in a patient with severe ovarian hyperstimulation syndrome.

OBJECTIVE: To report a case of bilateral massive vulvar edema following lower abdominal paracentesis in a patient with ovarian hyperstimulation syndrome. DESIGN: Case report. SETTING: University teaching hospital. PATIENT(S): A 32-year-old woman with primary infertility. INTERVENTION(S): The patient underwent ovarian stimulation with leuprolide acetate, highly purified FSH, and hCG. Because of the development of severe ovarian hyperstimulation syndrome, bilateral paracentesis through the lower abdominal quadrants was performed. MAIN OUTCOME MEASURE(S): Treatment of ovarian hyperstimulation syndrome. RESULT(S): Development of bilateral massive vulvar edema 24 hours after lower abdominal paracentesis. CONCLUSION: This case report suggests that lower abdominal paracentesis could be the cause of vulvar edema development in ovarian hyperstimulation syndrome, probably due to a fistulous tract created between the peritoneal cavity and the subcutaneous tissues.

Intratubular germ cell neoplasia in a man with ambiguous genitalia, 45,X/46,XY mosaic karyotype, and Y chromosome microdeletions.

We report the case of a 17-yr-old male with ambiguous genitalia, 45,X/46,XY mosaic karyotype, and Y chromosome microdeletions. The patient underwent a testicular biopsy at the age of 6 with normal findings. A second biopsy at the age of 17 established the diagnosis of intratubular germ cell neoplasia (ITGCN), which was treated with bilateral orchidectomy. This case report deals with three important issues regarding ITGCN: First, although a prepubertal biopsy can be performed in order to provide evidence for future fertility, it is very unreliable for making a diagnosis of ITGCN. Second, because ITGCN tends to be a generalized procedure that affects both testes in a uniform pattern, a small number of biopsies, even a single one, could be adequate for diagnostic purposes in the majority of cases. Third, although the population that requires screening for ITGCN remains controversial, the early postpubertal period could be the optimum time for a testicular biopsy.

beta-thalassemia and gonadal axis: a cross-sectional, clinical study in a Greek population.

beta-thalassemia (beta-thal) is characterized by disturbances of the reproductive system. The aim of the present study was: 1) to assess the hypothalamic- pituitary-gonadal axis in patients with beta-thal in relation to their phenotype and 2) to determine prognostic features of current gonadal status. We studied 135 patients (67 males and 68 females) with beta-thal through history, physical examination, spermiograms and GnRH test. These patients were divided into beta-thal major (51 males and 62 females) and beta-thal intermedia phenotypes (16 males and 6 females). Male patients with beta-thal major were subdivided into three groups a) eugonadal (35%, Tanner's stage V, normal testicular volume, normal spermiograms, normal basal and stimulated hormone values), b) patients with hypogonadotrophic hypogonadism (HH) of late onset (24%, Tanner's stage II-V, low-normal testicular volume, abnormal spermiograms, normal basal gonadotrophin values and abnormal response to GnRH test) and c) patients with HH of early onset (41%, Tanner's stage I, small testicular volume, abnormal spermiograms, abnormal basal and stimulated hormone values). Female patients with beta-thal major were subdivided into: a) eugonadal (32%, Tanner's stage V, regular menstruation, normal basal and stimulated hormone values), b) patients with hypogonadotrophic hypogonadism (HH) of late onset (34%, Tanner's stage II-V, secondary amenorrhea, subnormal basal and stimulated gonadotrophin values) and c) patients with HH of early onset (34%, Tanner's stage I, primary amenorrhea, subnormal basal and stimulated hormone values). Patients with beta-thal intermedia were subdivided into eugonadal (75% of males, 33% of females) and hypogonadal (25% of males, 67% of females). Current gonadal status could not be predicted by means of transfusion or chelation parameters. In conclusion, beta-thal patients could be eugonadal or develop early or late onset HH. trade mark-thal intermedia patients have a more favorable profile than beta-thal major individuals. Current gonadal status of beta-thal patients cannot be predicted by means of history, clinical or laboratory parameters.

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.

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.

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.

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.