Rare case of massive congenital bilateral chylothorax in a hydropic fetus with true mosaicism 47,XXX/46,XX.

Fetal congenital chylothorax is a rare condition that occurs sporadically or can be associated with abnormal karyotype or structural chromosomal anomalies. We report a unique case of fetal congenital bilateral chylothorax associated with mosaicism 47,XXX/46,XX. A female fetus affected by massive bilateral hydrothorax and ascites was diagnosed at 34(+1) weeks of gestation. Previous ultrasonographic exams were completely normal. Immune causes of hydrops were excluded. Elective cesarean section was performed soon after bilateral thoracocentesis. The analysis of drained pleural fluid revealed its lymphatic nature. The fetal karyotyping, performed on chorionic villi at the 11th week, had shown mosaicism 47,XXX/46,XX, later confirmed in the newborn's blood. We hypothesized that chylothorax may be part of the phenotypic spectrum of 47 XXX karyotype and we suggest an ultrasound follow-up of the fetus at closer intervals than the routine timing for this condition, even if it is not usually characterized by severe phenotypic features.

Bone mass density selectively correlates with serum markers of oxidative damage in post-menopausal women.

BACKGROUND: Post-menopausal osteoporosis (PO) affecting a large fraction of elderly women, is triggered by the decline in 17ß-estradiol (E2) level. Experimental studies in animal models and cell cultures have suggested that the fall in E2 might contribute to developing oxidative stress (OS) which in turn is believed to play an important role in PO pathogenesis. The scarcity of human studies focusing on this issue prompted us to investigate the effects of the reproductive and post-reproductive phase of women's life on OS and bone health. METHODS: Serum parameters of oxidative challenge (lipid hydroperoxides and protein advanced oxidation products) and antioxidant defence (total serum antioxidants levels) along with bone mineral density (BMD) at femoral neck and lumbar spine were assessed in a sample of 191 women (98 pre- and 93 post-menopausal, of whom 30 osteoporotic). RESULTS: Pearson's correlation analysis unveiled that spinal BMD was negatively correlated with lipid hydroperoxides in overall postmenopausal subsample (r=-0.251, p=0.012), while no significant link between these two variables was detected in women in reproductive age (r=-0.022, p=0.833). Noteworthy, stepwise multiple regression analysis showed that the association found in post-menopausal women retained significance after adjusting for potential confounding factors (p=0.001). CONCLUSIONS: Our data showed that markers of oxidative challenge are associated with bone loss in women in post-menopausal status. We suggest that menopause-related estrogen withdrawal might contribute to make bone more vulnerable to oxidative injury thereby increasing the risk of PO development.

Rectus abdominis muscle endometriotic mass in a woman affected by multiple sclerosis.

We report a case of a rectus abdominis muscle endometriotic mass in a woman affected by multiple sclerosis. The pathogenesis of endometriosis is poorly understood but an immune system alteration could play a role in its onset and development. To date few studies have investigated the connection between autoimmune diseases and endometriosis. Multiple sclerosis is an inflammatory, autoimmune, demyelinating disease of the central nervous system. An autoimmune background might contribute both in the establishment of extrapelvic endometriotic lesions and in the possible increased risk of women with endometriosis to develop autoimmune diseases.

Establishment of keratinocyte colonies from small-sized cervical intraepithelial neoplasia specimens.

The size of human cervical intraepithelial neoplasia (CIN) biopsies is usually very small and standard methods do not allow an adequate number of keratinocytes to be isolated for culturing purposes. In this study, a new approach to establish keratinocyte cultures from small CIN a tissue fragments was developed. Neoplastic specimens and corresponding normal tissues, which were used as controls, were digested with collagenase. Tissue-derived fibroblasts and keratinocytes were co-cultured in calcium and serum medium. Single keratinocyte colonies from primary cultures were expanded using a culture medium optimized in our laboratory. Primary keratinocyte colonies, as well as expanded colonies, were tested for epithelial and cervical markers such as 5, 14, 17, and 19 keratins, and p63 by immunofluorescence. Our results indicate that a variable number of primary keratinocyte colonies could be detected in neoplastic cultures, depending on the grade of cervical lesions from which the colonies originated. Single colonies, when cultured with our new medium, grew at a high rate with uniform size and morphology for some passages. Epithelial and p63 markers were expressed in keratinocyte colonies, as well as in expanded colonies. In conclusion, our study reports a rapid and easy culturing system which enables keratinocyte colonies from minute cervical tumor tissues to be obtained. Moreover, using the new culture medium, keratinocyte colonies can be expanded at a high proliferative rate.

Procreative sex in infertile couples: the decay of pleasure?

BACKGROUND: Infertility represents a major challenge to the emotional balance and sexual life of couples, with long-lasting and gender-specific effects. The objective of this study is to explore personality features of infertile patients and detect possible sexual disorders in couples undergoing infertility treatment. MATERIALS AND METHODS: In this prospective study 60 infertile couples and 52 fertile control couples were asked to complete standardized and validated questionnaires: the Adjective Check List (ACL) to enquire about personality features and the Female Sexual Function Index (FSFI) or the International Index of Erectile Function (IIEF) to assess sexual functioning of female and male partners. The study population was divided into 3 groups: Group A (N = 30, recently diagnosed infertile couples) Group B (N = 30, infertile couples already undergoing Intrauterine Insemination) and Group C (N = 52, fertile control group). RESULTS: Infertile patients did not display any distinguishing personality features. Regarding sexual function, men of all the three groups scored higher in both questionnaires (sexual satisfaction, desire and orgasm) than their female partners. Comparing results between groups, Group A male partners obtained lower scores in all the subscales. Women belonging to Group A and Group B showed an impairment of sexual arousal, satisfaction, lubrification and orgasm when compared to fertile controls. CONCLUSIONS: Even if at the very first stages of infertility treatment no personality disturbances can be detected, the couples' sexual life is already impaired with different sexual disorders according to gender.

Ovarian stimulation in women with high and normal body mass index: GnRH agonist versus GnRH antagonist.

In modern society, obesity has become a major health problem and has been associated with impaired fertility. The aim of this study is to assess the role of obesity in women undergoing controlled ovarian hyperstimulation (COH) stimulated either with GnRH agonists or with GnRH antagonists. Records of 463 women undergoing in vitro fertilization (IVF) treatment were reviewed. The influence of body mass index (BMI) on treatment outcome was examined, after accounting for differences in stimulation protocols. In the agonist group (286 patients), the total amount of gonadotropins used was significantly higher in patients with a BMI ≥ 25 kg/m², when compared to those with a normal BMI. The same result was found in the antagonist group (177 patients). No significant differences were found in length of stimulation, number of oocytes retrieved or number of embryos transferred. In both the antagonist and the agonist group, the number of clinical pregnancies was found to be higher in patients with normal BMI, suggesting that obesity could impair the ovarian response to exogenous gonadotropins. Considering the results obtained and the many theoretical advantages of GnRH antagonists, ovarian stimulation with GnRH antagonists is an efficient treatment for both women with normal and high BMI.

17ß-estradiol levels and oxidative balance in a population of pre-, peri-, and post-menopausal women.

BACKGROUND: The high incidence of various diseases observed in post-menopausal women has been widely associated to the decline of 17ß-estradiol (E2) occurring in correspondence of menopausal transition. One of the mechanisms suggested to explain this link takes into account the ability of E2 to counteract oxidative stress (OS) which is believed to play an important role in several pathogenic processes. AIM: To investigate whether stages of women's life characterized by different levels of E2 influence OS. SUBJECTS AND METHODS: We conducted a cross sectional study of OS markers in 159 women subdivided in 65 pre-menopausal, 36 peri-menopausal, and 58 post-menopausal classified according to the Staging of Reproductive Aging Workshop (STRAW) criteria. E2, follicle-stimulating hormone, and markers of OS including hydroperoxides, thiols, uric acid, total and residual antioxidant power, were assessed. RESULTS: After adjustment for covariates, only total antioxidant power was significantly different according to menopausal status (p <0.01), with lower value in pre- with respect peri- and post-menopausal women. No significant correlations between E2 levels and OS markers were detected. CONCLUSIONS: Endogen E2, and, consequently, its decline during menopausal transition, is not a determinant factor for OS.

Pseudo-Meigs' syndrome caused by a uterine leiomyosarcoma: a new clinical condition.

INTRODUCTION: Pseudo-Meigs' syndrome is a rare condition characterized by female genital cancer, ascites, hydrothorax and tumors other than benign ovarian tumors. CASE REPORT: A 30-year-old woman arrived at our clinic with pelvic pain and dyspnea. She underwent an exploratory laparotomy for a large pelvic mass complicated by ascites and hydrothorax. Cytological examination of the effusions was negative for malignant cells. Histological analysis of the tumor mass revealed a uterine epithelioid leiomyosarcoma. After surgery, we observed resolution of the effusions. CONCLUSION: Uterine leiomyosarcoma and pseudo-Meigs' syndrome are two rare entities. To our knowledge, there are no similar reports in the literature, and therefore we present this new clinical condition due to its high scientific evidence.

Italian consensus conference on epilepsy and pregnancy, labor and puerperium.

To facilitate an integrated and rational approach to the care of women with epilepsy of childbearing potential, a group of experts appointed by Italian scientific societies in the fields of epileptology, neonatology, pediatrics, neuropediatrics, child neuropsychiatry, obstetrics, and gynecology held a joint meeting in Santa Trada di Cannitello, Reggio Calabria, Italy, on October 15-16, 2004, with the aim of reaching consensus on the optimal management of these women. An ad hoc system for the classification of available published evidence and the opinions of experts was developed and used to grade recommendations on different aspects related to counseling, diagnostic, and treatment issues. The present document summarizes available evidence on the reciprocal interactions between epilepsy, antiepileptic drugs, fertility, contraception, pregnancy, delivery, breastfeeding, and the offspring. Recommendations are made concerning the information and counseling that should be provided to women with epilepsy with respect to issues related to contraception, conception, pregnancy, labour, and puerperium. More detailed recommendations on the same issues are provided to physicians and other healthcare professionals involved in the care of these women, with special reference to choice of effective contraception, optimization of antiepileptic drug therapy, use of prenatal diagnostic tests and other monitoring procedures, and appropriate management practices in relation to childbirth, puerperium, and the care of the child.

Oxidative stress, body fat composition, and endocrine status in pre- and postmenopausal women.

OBJECTIVE: To evaluate the role of menopause on the regional composition and distribution of fat in women and eventual correlations with the oxidative state. DESIGN: In this observational clinical investigation, 90 women (classified for menopause status according to Stages of Reproductive Aging Workshop criteria) were evaluated for body mass composition and fat distribution by dual-energy x-ray absorptiometry and for oxidative status by determination of serum hydroperoxide levels and residual antioxidant activity. RESULTS: Total body fat mass increases significantly in postmenopause (P < 0.05) by 22% in comparison with premenopause, with specific increases in fat deposition at the level of trunk (abdominal and visceral) (P < 0.001) and arms (P < 0.001). Concomitantly, the antioxidant status increases significantly (P < 0.001) by 17%. When data were adjusted for age by analysis of covariance, statistical significance disappeared for the increase in fat mass, but it was retained for antioxidant status (P < 0.05). Both antioxidant status and hydroperoxide level increased with trunk fat mass, as shown by linear correlation analysis (r = 0.46, P < 0.001 and r = 0.26, P < 0.05, respectively). CONCLUSIONS: The results of our investigation demonstrate that fat content increases in the upper part of the body (trunk and arms) in postmenopause and that age is the main determinant of this increase. During the comparison of premenopausal and postmenopausal women, we also detected a significant increase in antioxidant status. Apparently this change is mainly related to menopausal endocrine and fat changes.

Direct sequencing of HPV DNA detected in gynaecologic outpatients in Rome, Italy.

In order to assess the frequency of different human papillomavirus (HPV) types in Rome and the association between HPV and behavioural characteristics, we tested cervical scrapes of a population of sexually active women referring to university clinics for routine gynaecologic care. The presence of HPV DNA was revealed by polymerase chain reaction on two genome regions (L1 and E6/E7) followed by sequencing. Thirty different HPV types were identified; HPV 16 was the most prevalent (14.18%), followed by HPV 53 (9.21%), HPV 58 (7.80%), HPV 6 and 66 (both 5.67%) whereas all the other genotypes ranged below 5%. In univariate analysis the characteristics significantly associated with HPV DNA detection were the youngest age (P<0.01), the high number of lifetime partners (P<0.001) and the smoking habit (P<0.01). In multiple logistic regression analyses, the characteristics significantly associated with HPV DNA detection remained the younger age and the higher number of lifetime sexual partners. This study may be interesting in order to evaluate the circulation of HPV genotypes in Italy and to add a contribution to anti-cancer vaccine development.

Marfan's syndrome and pregnancy: a good maternal and fetal outcome.

INTRODUCTION: this case report highlights the important role of a multidisciplinary team's task in the care of pregnant women with Marfan's syndrome (MFS), a systemic disorder of connective tissue that is transmitted as an autosomal dominant trait. CASE: a 42 year-old italian pregnant woman with Marfan's syndrome and degenerative heart disease (aneurysmatic dilatation of the aortic root, mitral regurgitation and prosthetic mitralic valve) was clinically assessed jointly by an obstetrician and a cardiologist, 'the obstetric team specialised in management of high risk pregnancy', every 2-3 weeks from the 21(th) week of gestation. The first ambulatory monitoring echocardiography revelead aneurysmatic dilatation of the aortic root (41 mm), good function of the previously replaced mitral valve, cardiac ejection fraction 51% and telediastolic volume 116 ml. The echocardiographies showed no changes up to 32 weeks gestation. At the 34(th) week of gestation she had a slight decrease in cardiac ejection fraction and minimal increase of left ventricular diastolic volume. Therefore she underwent elective cesarean section under general anesthesia at 35 weeks' gestation. The postpartum course was uneventfull for the patient and the baby. CONCLUSION: pregnant women with heart disease benefit from an appropriate antenatal management, which may result in a favourable outcome.

Universal neonatal screening for sickle cell disease and other haemoglobinopathies in Ferrara, Italy.

BACKGROUND: Sickle cell disease is the commonest haemoglobinopathy in Africa, the Middle East and India. In recent years, its incidence has increased dramatically also in Europe and North America because of the high rate of migration of people from endemic areas. From January 2009 to January 2010 the number of foreign residents in the province of Ferrara (Italy) increased by 12.2%: most of the immigrants were from countries at high risk of sickle cell disease. Since neonatal screening and prophylactic penicillin in early childhood could reduce mortality by 10 years of age to less than 2%, the aim of this study was to establish a neonatal screening programme for haemoglobinopathies in Ferrara. MATERIALS AND METHODS: First we assessed how many pregnant women underwent haemoglobin analysis by high performance liquid chromatography before or during pregnancy and how many of them were carriers of haemoglobinopathies. Subsequently, we verified the feasibility of neonatal screening for sickle cell disease and other haemoglobinopathies, analysing cord blood by high performance liquid chromatography. Neonates found to be positive were managed by a multidisciplinary team to implement all the appropriate prophylactic and therapeutic measures. RESULTS: We found that 59% of women who delivered at the University Hospital of Ferrara, from 2007 to 2009, had undergone high performance liquid chromatography. Of the 41% who were not tested, many were from areas in which sickle cell disease is common. Between September 26th 2010 and January 31st 2012, 1992 neonatal tests were performed and 24 carriers of haemoglobinopathies were identified (16 with HbS, 4 with HbC, 2 with HbE, 1 with HbD Punjab and 1 with HbD-Ouled Rabah); 42.6% of the mothers of these 1,992 neonates had not undergone high performance liquid chromatography during pregnancy. DISCUSSION: Currently prevention of haemoglobinopathies in Italy is provided during the pre-conception period but only to patients with abnormal blood counts. Neonatal screening is useful and cost-effective to ensure early diagnosis and appropriate treatment for infants with sickle cell disease or other haemoglobinopathies.

Hysterosalpingo-contrast sonography: is possible to quantify the therapeutic effect of a diagnostic test?

OBJECTIVE: To evaluate the effect of hysterosalpingo-contrast sonography (HyCoSy) on natural conception in the infertile patient. METHODS: We conducted a prospective observational study recruiting 180 patients admitted to Infertility Center of Ferrara University from January 2010 to February 2012. The essential inclusion criteria was the couple's desire to perform only diagnostic evaluation on infertility causes and to wait for natural conception before proceeding with further management. Couples were investigated with hormonal profile, semen analysis and HyCoSy. Expected time for spontaneous pregnancy was 180 days from HyCoSy. First datation sonography of pregnancy was used calculating time elapsed from HyCoSy at conception. RESULTS: Forty patients (22.2%) obtained spontaneous pregnancy within 6 months after HyCoSy. The mean of "conception time" was 75 days. The pregnancy rate was significantly higher in the first 30 days (45%) compared to other the months of observation (p<0.0005). Multiple linear regression analysis showed that maternal age and sterility duration proved independent variables in detecting the "conception time" after HyCoSy (t=3.742, p=0.001, t=2.371, p=0.02, respectively). CONCLUSION: A possible beneficial effect of HyCoSy is feasible especially in the days following its execution. This temporal correlation supports its therapeutic use.

Impact of 677C>T mutation of the 5,10-methylenetetrahydrofolate reductase on IVF outcome: is screening necessary for all infertile women?

AIM: Polymorphisms of genes connected to folate metabolism may alter the beneficial effect of folic acid on the methyl group cycle. The most common variation is the 677C>T polymorphism of the gene of the 5,10-methylentetrahydrofolate reductase (MTHFR). The aim of this study is to investigate of what influence, if any, does MTHFR 677C>T mutation have on female fertility and on the in vitro fertilization (IVF) outcome. PATIENTS AND METHODS: Data of 273 patients were retrospectively analyzed. The study group (group A) consisted of 103 women, homozygous for the MTHFR 677C>T mutant genotype. The control group (group B) consisted of 170 patients without the mutation. RESULTS: A longer stimulation duration was found in group A and the total amount of recombinant follicle-stimulating hormone (r-FSH) needed was appreciably higher. The fertilization rate was significantly higher in group B, although the implantation rate and clinical pregnancies were similar in both groups. CONCLUSIONS: Alteration of inherited thrombophilic factors is connected with early pregnancy loss and IVF implantation failure. Our study showed an abortion rate higher, but not statistically significant, in group A. Based on these findings, our study suggests that MTHFR 677C>T mutation does not affect the IVF outcome and patients without thrombophilic risk factors undergoing an IVF cycle should not all be screened for thrombophilic disorders.

The use of uterine artery doppler as a predictive tool for adverse gestational outcomes in pregnant patients with autoimmune and thrombophilic disease.

OBJECTIVES: To verify whether Doppler velocimetry on the uterine arteries can be used to single out abnormal hemodynamic adjustments in the uteroplacental district and to prognose adverse gestational outcomes in pregnant women with autoimmune and trombophilic disease. METHODS: The study included 67 patients divided into 3 groups selected by a developed pathology. Attention was given to the performance of the Resistance Index (RI) in Doppler velocimetry checks at 10th, 16th-18th, 21st and 28th weeks of gestation. RESULTS: A significant correlation between Doppler values at week 21st and development of preeclampsia was observed (p <0.05) in the three patient groups. High Doppler values at the 21st week were found to be strongly associated (p <0.01) with preterm delivery. We also observed a significant correlation (p <0.05) between high Doppler values at week 21st and low weight at birth. Doppler was found to have a predictive power for gestational adverse outcomes already at week 16th. CONCLUSION: RI values of more than 0.58 (taken as a cut-off) at 16/18th weeks allowed us to identify the category most at risk, if confirmed at 21 weeks.

Trichomonas vaginalis infection: risk indicators among women attending for routine gynecologic examination.

OBJECTIVES: Trichomonas vaginalis is one of the most common agents of sexually transmitted disease, but trichomoniasis is still considered as an infection of minor importance. The aim of this study was to investigate the risk indicators for trichomoniasis in women attending for routine gynecologic examination. METHODS: The study was conducted comparing demographic and behavioral characteristics in two groups of 122 women with T. vaginalis infection and 853 uninfected women. RESULTS: Univariate analysis showed a significant increase of T. vaginalis infection among women with older age and multiple sexual partners. In multiple logistic regression analysis, the higher number of lifetime partners and older age remained significantly associated with T. vaginalis infection. CONCLUSIONS: This study suggests that T. vaginalis infection might be mainly related to lifestyle risk factors. Therefore, in our opinion, the diagnosis and treatment of this disease should be encouraged on routine gynecologic examination.