Background: Endometriosis as a chronic gynecological disease has several negative effects on women’s life, thereby placing a huge burden on the patients and the health system. The negative impact of living with endometriosis (impaired quality of life, diverse medical experiences) is detailed in the literature, however, we know less about patients’ self-management, social support, the meaning of life with a chronic disease, and the needs of patients. To implement a proper multidisciplinary approach in practice, we need to have a comprehensive view of the complexity of endometriosis patients’ life and disease history. Methods: Four focus group discussions were conducted between October 2014 and November 2015 by a team consisting of medical and psychological specialists. 21 women (age: 31.57; SD = 4.45) with surgical and histological confirmation of endometriosis were included in the study. Discussions were audiotaped and transcribed verbatim, and a 62,051-word corpus was analyzed using content analysis. Results: Four main themes emerged from the analysis: (1) the impact of endometriosis on quality of life, (2) medical experiences, (3) complementary and alternative treatments, and (4) different coping strategies in disease management. All themes were interrelated and highly affected by a lack of information and uncertainty caused by endometriosis. A supporting doctor-patient relationship, active coping, and social support were identified as advantages over difficulties. Finding the positive meaning of life after accepting endometriosis increased the possibility of posttraumatic growth. Furthermore, women’s needs were identified at all levels of the ecological approach to health promotion. Conclusions: Our results highlight the need for multidisciplinary healthcare programs and interventions to find solutions to the difficulties of women with endometriosis. To achieve this goal, a collaboration of professionals, psychologists, and support organizations is needed in the near future.

In endometrial cancer (EC), deep myometrial invasion (DMI) is a prognostic factor that can be evaluated by various imaging methods; however, the best method of choice is uncertain. We aimed to compare the diagnostic performance of two-dimensional transvaginal ultrasound (TVS) and magnetic resonance imaging (MRI) in the preoperative detection of DMI in patients with EC. Pubmed, Embase and Cochrane Library were systematically searched in May 2023. We included original articles that compared TVS to MRI on the same cohort of patients, with final histopathological confirmation of DMI as reference standard. Several subgroup analyses were performed. Eighteen studies comprising 1548 patients were included. Pooled sensitivity and specificity were 76.6% (95% confidence interval (CI), 70.9–81.4%) and 87.4% (95% CI, 80.6–92%) for TVS. The corresponding values for MRI were 81.1% (95% CI, 74.9–85.9%) and 83.8% (95% CI, 79.2–87.5%). No significant difference was observed (sensitivity: p = 0.116, specificity: p = 0.707). A non-significant difference between TVS and MRI was observed when no-myometrium infiltration vs. myometrium infiltration was considered. However, when only low-grade EC patients were evaluated, the specificity of MRI was significantly better (p = 0.044). Both TVS and MRI demonstrated comparable sensitivity and specificity. Further studies are needed to assess the presence of myometrium infiltration in patients with fertility-sparing wishes.

Background/Objectives: Non-invasive prenatal testing (NIPT) has become a widely used method for screening common fetal aneuploidies due to its high sensitivity and specificity compared to traditional screening methods. With various NIPT technologies available, such as whole-genome sequencing (WGS), single nucleotide polymorphisms (SNPs), microarray, and rolling circle amplification (RCA), understanding the accuracy and reliability of each method is critical for clinical decision-making. However, comprehensive evaluations comparing the performance of these NIPT methods, especially in terms of predictive values for trisomy detection, remain limited. A systematic review of the difference in accuracy of the different NIPT methods used for common aneuploidy screening. Methods: A systematic review of former clinical studies using different NIPT methods, such as whole-genome sequencing (WGS), a targeted method of single nucleotide polymorphisms (SNPs), microarray and rolling circle amplification (RCA). We collected data from the PubMed, Embase, Web of Science, Scopus, clinicaltrials.gov, and Cochrane library from the last 20 years, between 2003 January and 2023 October, without any language, search filter or publication type restrictions. Results: Two authors selected twenty articles including twenty-one studies to perform the systematic review. In these studies, altogether 92,164 pregnant women were tested by genomics-based non-invasive prenatal testing (NIPT). We extracted data on true positive, false positive, false negative, and true negative values from each study, and calculated sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) from them. We collected data regarding trisomy 21 (T21), trisomy 18 (T18) and trisomy 13 (T13) detection from all studies. Conclusions: As a conclusion, for the detection of common fetal trisomies, different methods of NIPT perform similarly in terms of clinical sensitivity, specificity and NPV. However, the tests utilizing SNP and RCA had lower PPV values than other NIPT methods. Our research indicates all NIPT methods showed greater sensitivity for the detection of T21, above 97%, than traditional screening tests. For T18 detection, the targeted method with the microarray had a lower sensitivity compared to other tests. The SNP and the microarray-based test had high PPV, whilst the other tests, utilizing WGS, and the test with RCA had quite low PPV. Regarding T13 detection, all of the tests performed similarly in terms of clinical sensitivity, specificity, PPV, and NPV (with one exception—one of the tests using WGS had lower PPV). According to these results, there was no significant difference between the methods of NIPT, such as WGS, SNPs, microarray, and RCA, used to detect common trisomies, but the variation in PPV underlines the importance of invasive tests to derive positive NIPT results. We suggest that NIPT combined with US screening for structural abnormalities could further improve the utility of the non-invasive tests in pregnancy. This is the first independent systematic review into the efficacy of the different NIPT methods.

To evaluate the role of maternal age in the incidence of non-chromosomal congenital anomalies (NCAs) and to pinpoint age groups at higher risk to refine screening protocols. Search performed on October 19, 2021, across MEDLINE (via PubMed), Cochrane Library (CENTRAL), and Embase. Included were population-based studies assessing the impact of maternal age on the incidence of NCAs in pregnant women, without restrictions on age range, country, or comorbidities. The PRISMA 2020 guideline and Cochrane Handbook informed the systematic review and meta-analysis. A random-effects model was used for pooling effect sizes, considering the heterogeneity across studies. From 15,547 studies, 72 were synthesized. Maternal age >35 showed an increased NCA risk (RR 1.31, CI: 1.07-1.61), rising notably after >40 (RR 1.44, CI: 1.25-1.66). The latter changes to 1.25 (CI: 1.08-1.46) if the co-occurrence of chromosomal aberrations is excluded. Specific anomalies like cleft lip/palate (>40, RR 1.57, CI: 1.11-2.20) and circulatory system defects (>40, RR 1.94, CI: 1.28-2.93) were significantly associated with advanced maternal age. Conversely, gastroschisis was linked to mothers <20 (RR 3.08, CI: 2.74-3.47). The study confirms that both very young and advanced maternal ages significantly increase the risk of NCAs. There's a pressing need for age-specific prenatal screening protocols to better detect these anomalies, especially considering the current trend of delayed childbearing. Further research is required to fully understand the impact of maternal age on the prevalence of rarer NCAs.

Infertility is increasing worldwide; male factors can be identified in nearly half of all infertile couples. Histopathologic evaluation of testicular tissue can provide valuable information about infertility; however, several different evaluation methods and semi-quantitative score systems exist. Our goal was to describe a new, accurate and easy-to-use quantitative computer-based histomorphometric-mathematical image analysis methodology for the analysis of testicular tissue. On digitized, original hematoxylin-eosin (HE)-stained slides (scanned by slide-scanner), quantitatively describable characteristics such as area, perimeter and diameter of testis cross-sections and of individual tubules were measured with the help of continuous magnification. Immunohistochemically (IHC)-stained slides were digitized with a microscope-coupled camera, and IHC-staining intensity measurements on digitized images were also taken. Suggested methods are presented with mathematical equations, step-by-step detailed characterization and representative images are given. Our novel quantitative histomorphometric-mathematical image analysis method can improve the reproducibility, objectivity, quality and comparability of andrological-reproductive medicine research by recognizing even the mild impairments of the testicular structure expressed numerically, which might not be detected with the present semi-quantitative score systems. The technique is apt to be subjected to further automation with machine learning and artificial intelligence and can be named ‘Computer-Assisted or -Aided Testis Histology’ (CATHI).

Background: Cervical cancer, primarily driven by persistent high-risk human papillomavirus (HPV) infections, remains a significant global health challenge. Systemic inflammatory markers, such as neutrophil/lymphocyte ratio (NLR), platelet/lymphocyte ratio (PLR), and lymphocyte/monocyte ratio (LMR), may reflect disease progression. This study examines the association between these markers and p16 positivity in cervical intraepithelial neoplasia (CIN) cases. Methods: This retrospective analysis included 395 patients undergoing LEEP conization. Data on HPV status, p16 immunostaining, and hematological parameters were collected. Statistical analyses, including Mann–Whitney U and chi-square tests, assessed relationships between markers and outcomes, with significance set at p < 0.05. Results: Elevated NLR was significantly associated with p16 positivity (p = 0.011) and HPV DNA positivity (p = 0.04). HPV-positive individuals showed higher mean NLR (2.15) compared to HPV-negative individuals (1.61). Receiver operating characteristic (ROC) analysis demonstrated moderate diagnostic accuracy for NLR (AUC = 0.610), highlighting its potential as a biomarker. No significant associations were observed for PLR or LMR with p16 positivity. These findings suggest systemic inflammation, indicated by NLR, contributes to HPV persistence and CIN progression. Conclusions: NLR is a valuable prognostic biomarker for HPV-related cervical disease, correlating with both p16 and HPV DNA positivity. Incorporating hematological and immunohistochemical markers may enhance personalized cervical cancer management.