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Spontaneous abortion is a pregnancy complication characterized by complex and multifactorial etiology. About 5% of childbearing women are globally affected by early pregnancy loss (EPL) and most of them experience recurrence (RPL). Epigenetic mechanisms and controlled inflammation are crucial for pregnancy maintenance and genetic predispositions may increase the risk affecting the maternal-fetal crosstalk. Combined analyses of global methylation, inflammation and inherited predispositions may contribute to define pregnancy loss etiopathogenesis. LINE-1 epigenetic regulation plays crucial roles during embryo implantation, and its hypomethylation has been associated with senescence and several complex diseases. By analysing a group of 230 women who have gone through pregnancy interruption and comparing those experiencing spontaneous EPL (n = 123; RPL, 54.5%) with a group of normal pregnant who underwent to voluntary interruption (VPI, n = 107), the single statistical analysis revealed significant lower (P < 0.00001) LINE-1 methylation and higher (P < 0.0001) mean cytokine levels (CKs: IL6, IL10, IL17A, IL23) in EPL. Genotyping of the following SNPs accounted for different EPL/RPL risk odds ratio: F13A1 rs5985 (OR = 0.24; 0.06-0.90); F13B rs6003 (OR = 0.23; 0.047-1.1); FGA rs6050 (OR = 0.58; 0.33-1.0); CRP rs2808635/rs876538 (OR = 0.15; 0.014-0.81); ABO rs657152 (OR = 0.48; 0.22-1.08); TP53 rs1042522 (OR = 0.54; 0.32-0.92); MTHFR rs1801133/rs1801131 (OR = 2.03; 1.2-3.47) and FGB rs1800790 (OR = 1.97; 1.01-3.87), although Bonferroni correction did not reach significant outputs. Principal Component Analysis (PCA) and logistic regression disclosed further SNPs positive/negative associations (e.g. APOE rs7412/rs429358; FGB rs1800790; CFH rs1061170) differently arranged and sorted in four significant PCs: PC1 (F13A, methylation, CKs); PC3 (CRP, MTHFR, age, methylation); PC4 (F13B, FGA, FGB, APOE, TP53, age, methylation); PC6 (F13A, CFH, ABO, MTHFR, TP53, age), yielding further statistical power to the association models. In detail, positive EPL risk association was with PC1 (OR = 1.81; 1.33-2.45; P < 0.0001) and negative associations with PC3 (OR = 0.489; 0.37-0.66; P < 0.0001); PC4 (OR = 0.72; 0.55-0.94; P = 0.018) and PC6 (OR = 0.61; 0.46-0.81; P = 0.001). Moreover, significant inverse associations were detected between methylation and CKs levels in the whole group (r IL10  = - 0.22; r IL17A  = - 0.25; r IL23  = - 0.19; r IL6  = - 0.22), and methylation with age in the whole group, EPL and RPL subgroups (r 2  = 0.147; r TOT  = 0.136; r 2  = 0.248), while VPI controls lost significance (r EPL  = 0.136; r 2 RPL  = 0.248), while VPI controls lost significance (r 2 VPI  = 0.011). This study provides a valuable multilayer approach for investigating epigenetic abnormalities in pregnancy loss suggesting genetic-driven dysregulations and anomalous epigenetic mechanisms potentially mediated by LINE-1 hypomethylation. Women with unexplained EPL might benefit of such investigations, providing new insights for predicting the pregnancy outcome and for treating at risk women with novel targeted epidrugs., (© 2024. The Author(s).)

Background: Percutaneous left atrial appendage occlusion (LAAO) is indicated in subjects with atrial fibrillation who cannot receive oral anticoagulants. This procedure requires transesophageal echocardiography guidance and is usually performed under general anesthesia. The Janus Mask is a new device designed to allow upper endoscopic procedures during noninvasive ventilation (NIV)., Aims: This study aims to assess the possibility of performing LAAO under sedation and NIV., Setting: Cardiac electrophysiology laboratory., Design: Case-control study., Materials and Methods: Data from 11 subjects undergoing LAAO under sedation and NIV with the Janus Mask were retrospectively collected. Procedure duration, outcomes, and physicians' satisfaction were compared with those of 11 subjects who underwent LAAO under general anesthesia in the same period., Statistical Analysis: Univariate analysis and analysis of variance for between-groups comparison., Results: The 11 subjects treated with sedation experienced a good outcome, with a high degree of satisfaction from the medical team. An increase in arterial partial pressure of carbon dioxide in the Janus group (45 [43-62] mmHg vs. 33 [30-35] mmHg in the general anesthesia group, P < 0.001) led to a transient pH decrease 45 min after the beginning of the procedure (7.30 [7.18-7.36] vs. 7.40 [7.39-7.46], P = 0.014). No differences in arterial partial pressure of oxygen, FiO 2 , and hemodynamic parameters were observed. The subjects' conditions at discharge from the recovery room were comparable. No difference in procedure duration was registered., Conclusions: LAAO procedure under sedation and NIV through the Janus Mask is safe and feasible. This strategy might represent a valuable alternative to manage such a compromised and fragile population.

Miscarriage is one of the main complications occurring in pregnancy. The association between adverse pregnancy outcomes and silent bacterial infections has been poorly investigated. Ureaplasma parvum and urealiticum, Mycoplasma genitalium and hominis and Chlamydia trachomatis DNA sequences have been investigated by polymerase chain reaction (PCR) methods in chorionic villi tissues and peripheral blood mononuclear cells (PBMCs) from females with spontaneous abortion (SA, n = 100) and females who underwent voluntary interruption of pregnancy (VI, n = 100). U. parvum DNA was detected in 14% and 15% of SA and VI, respectively, with a mean of bacterial DNA load of 1.3 × 10 -1 copy/cell in SA and 2.8 × 10 -3 copy/cell in VI; U. urealiticum DNA was detected in 3% and 2% of SA and VI specimens, respectively, with a mean DNA load of 3.3 × 10 -3 copy/cell in SA and 1.6 × 10 -3 copy/cell in VI; M. hominis DNA was detected in 5% of SA specimens with a DNA load of 1.3 × 10 -4 copy/cell and in 6% of VI specimens with a DNA load of 1.4 × 10 -4 copy/cell; C. trachomatis DNA was detected in 3% of SA specimens with a DNA load of 1.5 × 10 -4 copy/cell and in 4% of VI specimens with a mean DNA load of 1.4 × 10 -4 copy/cell. In PBMCs from the SA and VI groups, Ureaplasma spp, Mycoplasma spp and C. trachomatis DNAs were detected with a prevalence of 1%-3%. Bacteria were investigated, for the first time, by quantitative real-time PCR (qPCR) in chorionic villi tissues and PBMCs from women affected by SA and VI. These data may help to understand the role and our knowledge of the silent infections in SA., (© 2018 Wiley Periodicals, Inc.)

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., (© 2013 The Authors. Journal of Obstetrics and Gynaecology Research © 2013 Japan Society of Obstetrics and Gynecology.)

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.

Objectives: To assess the outcome of pregnancy and disease flare or differentiation into well-defined connective tissue disease (CTD), in a cohort of pregnant patients with undifferentiated connective tissue disease (UCTD) and to compare these findings with those obtained from a population of non-pregnant women with UCTD., Methods: In total, 55 pregnancies (in 50 UCTD patients) were monitored from the positive pregnancy test until the sixth month after delivery. Likewise, during a 15-month timeframe, the incidence of flares or evolution into a major CTD was also recorded in a population of 53 non-pregnant women with UCTD. The Student t-test was applied for unpaired, continuous variables and chi-square was applied when percentages were compared., Results: The mean duration of the successful pregnancies was 38.6 weeks (range 28-42) while the mean birth weight was 3190 g (range 1200-4600 g). Three pregnancies (5.4%) ended in miscarriage. The following obstetric complications were found: five premature membrane ruptures, two preeclampsia and two intra-uterine growth restrictions. In a total of 16 patients (32%) the disease flared during pregnancy or during the 6-month post-delivery period. Of these, five developed well-defined CTD after delivery. In the control population, six patients flared (11%) and, of these, only one developed a well-defined CTD., Conclusions: If pregnancy is properly treated, the outcome in UCTD patients is generally good while, considering disease activity, pregnancy appears to be a clear risk factor for flare up or evolution into well-defined CTD.

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.

Background: Spinal cord stimulation (SCS) is a treatment that exploits the antalgic and vasodilatory effects on the microcirculation produced by a stimulating electrode positioned in the peridural space. This therapy has been used for years in the treatment of refractory angina pectoris. The aim of this study was to monitor the clinical effectiveness of the technique in terms of symptomatic benefits and, above all, improved quality of life in angina patients undergoing SCS., Methods: From November 1998 to December 2000 we used SCS to treat 17 patients with refractory angina (functional class III or IV Canadian Cardiovascular Society) with onset more than one year earlier. All patients had undergone one or more traditional revascularisation procedures and were receiving maximum drug therapy. Patients were assigned to SCS because it was not technically possible to perform other revascularisation procedures. Quality of life was measured before and after treatment using a multidimensional index (QL Spitzer's index). We also noted the mortality, acceptance and morbidity of the procedure during a follow-up lasting 10 months on average. Lastly, the number of weekly anginal pain attacks, weekly nitrate consumption and CCS functional class were recorded before treatment and 1, 3 and six months after therapy., Results: SPC was effective in 13 patients out of 17 (76.47%). In responders the quality of life improved by 70%: in these patients, the number of weekly angina attacks reduced from 11.76+/-7.56 to 2.14+/-2.54, and the functional class from 3.30+/-0.75 to 1.5+/-0.53. No major periprocedural complications were reported. The annual mortality rate was 6.6%. The technique was easy to use., Conclusions: The results of this study show that SCS is effective, safe, easy to use and well tolerated by patients with refractory angina who fail to respond to traditional revascularisation. This technique substantially improves the quality of life of patients suffering from refractory angina.

This study was designed to evaluate locoregional anesthesia (double block of sciatic and femoral nerves with ENS) for ambulatory knee arthroscopic surgery. A statistical evaluation was performed in 50 adult outpatients (41 males, 9 females, ASA class 1 or 2) undergoing ambulatory knee arthroscopic procedures. Basal and intraoperative BP, HR SaO2 were recorded and the intensity of analgesia was also assessed according to the patient's subjective evaluation. Extra sedative or analgesic requirements were also recorded. There were no statistical changes in hemodynamic parameters during the perioperative period. The effectiveness of the anaesthetic block was classified as very good in 84% of patients, good in 2%, sufficient in 6% and inadequate in 8%. All patients were discharged in four hours after surgery. Our study shows that in ambulatory arthroscopic surgery, sciatic and femoral block with ENS is a valuable alternative to general anaesthesia.