10 research outputs found

    Case report of prenatal diagnosis of StĂĽve-Wiedemann Syndrome in a woman with another child affected too

    Get PDF
    Objective: StĂĽve-Wiedemann Syndrome (SWS; MIM 601 559) is an autosomal-recessive syndrome characterized by myotonia with mask-like face, skeletal dysplasia and intrauterine growth restriction. Other clinical findings are pursed mouth, hypoplastic midface, congenital contractures and muscular hypotonia. We discuss about the importance of prenatal diagnosis in SWS and the possibility of survival after the first year of life in patients suffering from this disease. Methods: we report a case of StĂĽve-Wiedemann Syndrome detected by morphological examination in our Operative Unit. Prenatal presumptive diagnosis was given with two-dimensional and 3-D probe, during the second trimester of pregnancy. Caesarean section was performed at 38th week of gestation. Then diagnosis was genetically performed. Results: at birth, clinical examination was concordant with the ultrasound findings. Genetic analy- sis also confirmed the presumptive diagnosis. Episodes of respiratory distress and hyperthermia decreased until it disappeared altogether at 1 year of age. Conclusion: we underline the usefulness of ultra-sound study of fetal skeleton in the prenatal diagnosis. It allowed us to do an early detection of birth defects and their appropriate management

    Papillomavirus Infection as Potential Cause of Miscarriage in the Early Gestational Age: A Prospective Study

    No full text
    The possible association between human papillomavirus (HPV) infection and negative pregnancy outcomes has been debated in the literature, with conflicting results from clinical trials. While some authors support a link between HPV and miscarriage, others argue that the mere detection of the virus does not necessarily indicate a causal relationship with negative pregnancy outcomes. In this study, we conducted a prospective, controlled investigation of the potential association between HPV infection and miscarriage. Our study included 59 women who had experienced a miscarriage and 57 women who had undergone voluntary termination of pregnancy (TOP) within the 12th week of gestation. We assessed HPV prevalence, maternal age, and HPV genotype in both groups and evaluated the relationship between these factors and pregnancy outcome. Unlike previous studies that only identified HPV in cases of abortion, we also correlated the positivity of chorionic villi with gestational age in both groups. We found a close correlation between positive chorionic villi and very early gestational age, with all 13 cases of virus-positive chorionic villi in the miscarriage group occurring in gestational periods of less than 8 + 5 weeks (<60 days) (RR = 28.6). Our analysis showed no correlation between HPV infection and maternal age or viral genotypes. The results suggest that the presence of HPV alone is not enough to cause spontaneous abortion, but a high viral load in early pregnancy may increase the risk of negative outcomes. These findings have important implications for the management of HPV infection during pregnancy and may provide a rationale for the use of HPV vaccines to reduce the incidence of spontaneous abortion and infertility due to preclinical spontaneous abortions

    Does Vaginal Wall Surgical Trauma During Hybrid Transvaginal NOTES Nephrectomy Have Traumatic Effects On Sexual Functions? A Prospective Study

    No full text
    Background Surgical trauma due to vaginal wall incision to extract the specimen during transvaginal hybrid Natural-Orifices-Transluminal-Endoscopic-Surgery (NOTES) nephrectomy can result in sexual dysfunction and have traumatic psychological impacts. We evaluated the alteration of sexual functions in the postoperative period. Methods Patients who underwent a transvaginal NOTES nephrectomy were prospectively enrolled. Patients and their partners were evaluated with the Golombok-Rust Inventory of Sexual Satisfaction (GRISS) questionnaire pre- and post-operatively. Surgical characteristics were recorded. Results Fifty-three patients (mean age: 52.72 ± 2.39 years; mean tumor size 4.77 ± 2.55 cm) were included. The total GRISS scores of all patients were similar in pre- and post-operative periods. Although females reported no change in the GRISS score, 60.4% of partners showed a drop in the total score. Non-communication and avoidance subdomains showed significant changes for females; males showed a significant change in avoidance, non-sensuality and dissatisfaction subdomains. Subgroup analyses showed that neither tumor stage nor nulliparous status did not affect total score changes for both genders. The trocar number and perioperative complication rates had no significant effects on total score changes. Conclusion Sexual function can be affected after transvaginal NOTES nephrectomy and care should include a stringent approach to addressing sexual dysfunction. We support the transvaginal NOTES nephrectomy technique if adequate secondary measures to protect sexual function are taken

    Correlation of the HPV 16 Genotype Persistence in Women Undergoing LEEP for CIN3 with the Risk of CIN2+ Relapses in the First 18 Months of Follow-Up: A Multicenter Retrospective Study

    No full text
    Objective: Specific hr-HPV genotypes have different natural histories and different oncogenic capacity. This study aimed to investigate the risk of CIN2+ recurrence of the individual genotypes and evaluate how the duration of HPV persistence influences the risk of developing recurrent 16 cervical dysplasia of high grade (CIN2+). Methods: Data from patients with persistent HPV infection after primary conization were retrospectively extracted. Kaplan-Meier proportional hazards models were used to evaluate associations between the duration of HPV persistence and the risk of developing recurrent CIN2+. Kruskal-Wallis testing with Dunn’s multiple comparison test was used to test whether there was a statistically significant difference in the time to development of tumor recurrences between different genotypes. Results: Overall, 333 patients met the inclusion criteria. In 285 cases the HPV infection was persistent, in 48 cases (18%) it was transient, i.e., different genotypes after LEEP. Overall were diagnosed 39 relapses (13.7%), 79.5% (31/39 cases) were due to genotype 16, 20.5% (8/39) were linked to the other genotypes. Persistence of genotype 16 showed a 7-fold increased risk of developing a CIN2+ relapse, OR = 7.08 (95%CI: 3.12–16.08). Furthermore, the majority of relapses (38/39) occurred within 24 months of persistence with a cut-off represented by 18 months (p = 0.001) in which the relapse rate is maximum and the most frequently found genotype was the 16th with 31 (79.5%) cases of recurrence. Kruskal-Wallis test with Dunn’s multiple comparisons has shown statistically significant difference in the time of development of CIN2 relapses among HPV16 and other genotypes. (p p < 0.05) Conclusions: the study results suggest that persistent HPV infection after LEEP with the same HR genotype present before surgery represents one of the most important predictive factors of the risk of CIN2+ recurrence. The persistence of HPV16 for the first 18 months strongly correlates with the risk of developing a CIN2+ recurrence

    The Coexistence of Cervical Intraepithelial Neoplasia (CIN3) and Adenocarcinoma In Situ (AIS) in LEEP Excisions Performed for CIN3

    No full text
    The purpose of this study was to evaluate the incidence of AIS and AC in the histological cone of women treated for CIN3. Furthermore, through the study of the specific HR HPV genotypes, we obtained more information on the possible different nature between the single CIN3 lesion and the CIN3 coexisting with the glandular lesion. Methods. A sample of 414 women underwent LEEP for CIN3. The study sample consisted of 370 women with a CIN3 lesion alone and 44 women with a CIN3 lesion coexisting with AIS or adenocarcinoma. We studied the individual HR HPV genotypes and their frequency in the two groups under study. Furthermore, the therapeutic results and follow-ups for the population were studied on the entire study sample. Results. In patients with a single CIN3 lesion, 11 high-risk genotypes were detected; in patients with CIN3 associated with AIS or AC, only 4 different genotypes were detected (16, 18, 45, 33). Overall, the frequency of HPV 18 was significantly higher in CIN3 coexisting with AIS compared to solitary CIN3 lesions, χ2 = 27.73 (p < 0.001), while the frequency of other high-risk genotypes was significantly higher in patients with a single CIN3 than in patients with CIN3 coexisting with AIS. In our study population, mixed lesions (CIN3 coexisting with AIS), unlike their squamous counterparts (single CIN3 lesions), were characterized by skip lesions, which demonstrate more aggressive behavior and a higher rate of viral persistence and recurrence. Conclusion. A relatively high rate (10.7%) of AIS-AC was found in women treated for CIN3. Our study confirms the multifocal biological nature of the CIN3 lesion coexisting with AIS compared to the single CIN3 lesion. All this justifies the different treatments to which CIN3 lesions coexisting with AIS are addressed; in fact, the latter are treated with hysterectomy, while CIN3 is treated with conization alone

    Is there proof of transferability of laparoscopic psychomotor skills from the simulator laboratory to the operating room? Results from a systematic review

    No full text
    This systematic review aims to understand better the translation of laparoscopic psychomotor skills, acquired in dry lab training, into a direct patient benefit in actual clinical practice in the operating room. The review was performed according to PRISMA guidance, searching database-specific filters for controlled trials: 'laparoscopy', 'simulator', 'surgical training', 'dry lab', 'psychomotor skills'. We included only RCTs in which the study population was the surgical trainee or novice surgeon with no prior simulation training, and the intervention was simulation training in laparoscopic surgery, regardless of subspecialty. Ten studies were included in this systematic review. The mean performance score was higher compared to the control groups. Fewer errors were noted in the intervention groups. No clinical patient outcomes (mortality, morbidity, quality of life) were addressed in these studies. All the trials were at high risk of bias. Training outside the operating room may lead to better surgical performance and less operative time. Nevertheless, additional studies with better designs are needed to provide more robust evidence

    Vitamin D, reproductive disorders and assisted reproduction: evidences and perspectives

    No full text
    Vitamin D is an important nutrient involved in many fundamental health outcomes. However, its influence on female reproductive function remains ambiguous. Cholecalciferol seems to have a role in the reproductive processes and in the patients affected by polycystic ovary syndrome, endometriosis, uterine myomas and premature ovarian failure. Moreover, it may play an import- ant role in the assisted reproductive techniques, given that it is capable of influencing oocyte quality, but also an adequate preparation of the endometrium for embryonic implantation. Although promising, available evidence is based on a limited number of in vitro, in vivo and clin- ical studies. We provide an overview of the association between vitamin D and female infertility reporting the most recent data published in the literature. Nevertheless, properly randomised clinical trials are mandatory to achieve more conclusive results about the promising role of vita- min D in the management of female assisted reproduction

    Oral Intake of the Commercial Probiotic Blend Synbio<sup>®</sup> for the Management of Vaginal Dysbiosis

    No full text
    A healthy vaginal microbiota is Lactobacillus-dominated. Several factors can interfere with the state of balance leading to dysbiosis, such as vaginal infections caused by bacteria and Candida species. The present single-arm, uncontrolled open-label study aimed to evaluate the ability of the SYNBIO® probiotic combination, taken as an oral formulation, to contribute to vaginal health. Thirty pre-menopausal participants were included in the study. Participants were instructed for daily oral intake of SYNBIO® probiotic capsules for 15 days. Vaginal swabs were collected at baseline (T0), 15 days after the start of the treatment (T1), and 7 days after the end of the treatment (T2). Amsel criteria, Nugent score, and vaginal pH were evaluated at each sampling time. In addition, the participants’ quality of life was assessed by the WHOQOL-BREF questionnaire. The administration of SYNBIO® once daily for 15 days resulted in a substantial improvement in the vaginal flora in terms of an increase in lactobacilli and a decrease in enterococci, staphylococci, Gardnerella spp., and Candida spp. According to the results, statistically significant changes in leucorrhoea, itching, and vulvo-vaginal erythema/edema as well as a decrease in all the Amsel criteria were recorded. The oral consumption of SYNBIO® demonstrated enhanced benefits for vaginal health
    corecore