Ginekologia polska最新文献

Objectives: To assess the diagnostic efficacy of integrated chromosomal microarray analysis (CMA) and whole-exome sequencing (WES) in prenatal CHD diagnosis among diabetic pregnancies and examine potential gene-environment interactions affecting cardiac morphogenesis.

Material and methods: This prospective investigation enrolled 160 diabetic gravidae (Type 1, Type 2, or gestational) whose fetuses demonstrated CHD on echocardiography. All specimens underwent both CMA and WES analyses. Maternal glycemic parameters were quantified, with HbA1c stratified as < 6.5%, 6.5-8.0%, or > 8.0%. Genetic findings were correlated with CHD severity and glycemic control. A multivariate risk prediction model was constructed.

Results: Molecular analysis identified pathogenic variants in 87 cases (54.4%): 27 (16.9%) via CMA, 38 (23.8%) via WES, and 22 (13.8%) through both methodologies. Detection rates varied significantly across diabetes subtypes (66.7%, 54.2%, 50.0% for Type 1, Type 2, and gestational diabetes, respectively; p = 0.039). Cardiac transcription factor genes demonstrated significant enrichment in severe CHD (p = 0.011). Notably, fetuses harboring identical genetic variants exposed to poor glycemic control (HbA1c > 8.0%) exhibited significantly higher rates of severe CHD compared with adequately controlled cohorts (p = 0.033). Even in genetically negative specimens, severe CHD prevalence correlated directly with hyperglycemia (p = 0.003). The combined risk prediction model achieved AUC = 0.771.

Conclusions: Concurrent implementation of CMA and WES substantially enhances diagnostic yield in prenatal CHD detection associated with maternal diabetes. Our data demonstrates significant gene-environment interactions wherein maternal hyperglycemia potentiates phenotypic expression of cardiac developmental gene variants, elucidating pathogenetic mechanisms and supporting individualized risk stratification.

Objectives: Caring for newborns with life-limiting conditions represents one of the most demanding professional and emotional challenges for healthcare staff, particularly nurses and midwives. The aim of this study was to examine the relationship between empathy levels, professional competence, occupational stress, and psychosomatic symptoms among professionals working in neonatal care settings.

Material and methods: This quantitative, cross-sectional study was conducted in the second quarter of 2023 in level II and III referral centres in the Silesian region of Poland. A total of 307 nurses and midwives participated. Data were collected using a proprietary questionnaire comprising sociodemographic data, self-assessment of empathy and professional competence, factors shaping attitudes towards death, and the Perceived Stress Scale (PSS-10). Statistical analysis was performed using non-parametric tests and Spearman's rank correlation.

Results: Results indicated that higher self-reported empathy and professional preparedness were significantly associated with lower levels of stress and fewer psychosomatic symptoms. Respondents who felt unprepared to provide emotional support were more likely to report chronic fatigue, headaches, and gastrointestinal disturbances.

Conclusions: These findings highlight the need for structured education focused not only on clinical skills but also on emotional preparedness. Psychological support systems should be integrated into neonatal care environments to mitigate occupational stress and prevent burnout.

The high survival rate of pediatric cancer patients has prompted a growing research focus on the long-term sequelae of cancer treatment. Premature ovarian insufficiency (POI) and infertility, which are the consequences of the gonadotoxic effects of anticancer therapy, have a profound impact on the quality of life of the affected individuals. A rapidly evolving field of oncofertility has emerged in an attempt to establish a structured approach to fertility preservation in oncologic patients. This study presents the practical aspects of fertility preservation strategies, in accordance with the latest guidelines for young female patients undergoing cancer treatment during childhood and adolescence, as well as the experience of the Gdansk Center in harvesting ovarian tissue for cryopreservation.

Objectives: Recurrent miscarriage is a multifactorial condition, with immune dysregulation proposed as a potential contributing factor. This study investigates the causal relationship between immune cell phenotypes and miscarriage risk using Mendelian randomization (MR).

Material and methods: We performed a two-sample MR analysis using genome-wide association study (GWAS) summary statistics from publicly available datasets. The exposure data for immune cell phenotypes were obtained from the ebi-a-GCST90001599 dataset in the IEU GWAS database, which included over 3,000 individuals of predominantly European ancestry from multiple cohorts within the UK Biobank. The outcome data for miscarriage risk were sourced from the UKB-B-419 dataset in the MRC-IEU GWAS database, which analysed the number of spontaneous miscarriages in 78,700 individuals of predominantly European ancestry from the United Kingdom. The primary MR analysis was conducted using inverse-variance weighted (IVW) regression, complemented by Wald ratio and MR-Egger regression methods to assess robustness. MR-PRESSO was used to test for pleiotropy, while sensitivity analyses evaluated instrument validity and heterogeneity.

Results: MR-Egger regression did not provide statistically significant evidence for a causal association between immune cell phenotypes and miscarriage risk. However, IVW and Wald ratio analyses identified statistically significant associations between specific immune cell profiles and miscarriage risk. A higher proportion of HLA DR+ CD4+ and CD8+ T cells was associated with an increased risk of miscarriage (p < 0.005), while a higher absolute lymphocyte count was linked to a decreased risk (p = 0.011). Additionally, elevated levels of TCRgd T cells and FSC-A on CD4+ T cells were potentially protective against miscarriage (p < 0.01). Conversely, lower proportions of granulocytes and FSC-A on myeloid dendritic cells were associated with an increased miscarriage risk (p < 0.05). MR-PRESSO detected significant pleiotropy (global test p < 0.001), suggesting that some genetic variants may influence other traits, potentially biasing the initial MR estimates.

Conclusions: Our findings suggest a complex interplay between immune cell composition and miscarriage risk, providing new insights into the immunological mechanisms contributing to pregnancy loss. These results highlight the need for further research to confirm these associations and explore potential therapeutic targets for immune-related pregnancy complications.

Objectives: To identify novel marker genes to predict potential gestational diabetes mellitus (GDM) patients.

Material and: METHODS: Based on Gene Expression Omnibus (GEO) datasets, the differentially expressed genes (DEGs) between control and GDM were identified, followed by enrichment analysis and protein-protein interaction (PPI) network construction. Then, Weighted gene co-expression network analysis (WGCNA) was conducted to screen the key module genes, then the important genes were obtained. In addition, Least Absolute Shrinkage and Selection Operator (LASSO) logistic regression, Support Vector Machine - Recursive Feature Elimination (SVM-RFE), and random forest (RF) were employed to identify the key genes. Receiver operating characteristic (ROC) analysis was performed to assess the diagnostic efficacy of key genes, and a nomogram was developed. The correlation between key genes and immune cells was analyzed, and miRNA-mRNA-TF network was constructed.

Results: A total of 257 DEGs were screened between control and GDM groups, and these DEGs were involved in p53 signaling pathway, cell cycle and oocyte meiosis pathways. Then PPI network was constructed, including 163 nodes and 5502 interaction relationships. After WGCNA and machine learning, a total of 4 key genes were obtained, including SNRPD3, NGDN, ANKRD36 and TAS2R20, followed by a nomogram was constructed. SNRPD3 was positively correlated with CD8 T cells. miRNA-mRNA-TF network was conducted, including 56 miRNAs, 4 mRNAs, and 32 TFs. Besides, luteolin PC3 UP, alsterpaullone PC3 UP, and solanine HL60 UP were associated with NGDN, and MeIQx CTD 00001739 was related to TAS2R20.

Conclusions: Four key marker genes for predicting potential GDM were identified, including SNRPD3, NGDN, ANKRD36 and TAS2R20, and a nomogram was established for predicting potential GDM patients.

Objectives: Obesity negatively affects female fertility and pregnancy outcomes. Bariatric surgery improves weight, metabolism, and fertility, but concerns remain about maternal and neonatal outcomes. To evaluate reproductive and perinatal outcomes in Polish women who conceived after bariatric surgery (MOMBARIS 2).

Material and methods: A retrospective study (2015-2024) in 11 bariatric centers included 160 women post-surgery; 154 conceived and were analyzed for fertility, pregnancy, and neonatal outcomes.

Results: Pregnancy occurred in 97.5% of participants, mostly spontaneous (83.8%) and planned (58.7%). BMI dropped from 43.1 to 30.45 kg/m².

Complications: anemia (35.9%), gestational diabetes (16.2%), hypertension (10.2%). Cesarean rate: 52.7%. Neonatal outcomes were favorable: median birth weight 3,330 g, gestational age 39 weeks, 97.9% had Apgar 10, and 3.0% had anomalies.

Conclusions: Despite maternal risks, neonatal outcomes were excellent. Bariatric surgery improves fertility without compromising fetal health.

Objectives: We aimed to evaluate the effect of continuous epidural block combined with free positioning on the genital tract injury in parturients undergoing vaginal delivery.

Material and methods: A total of 146 women who underwent vaginal delivery between January 2021 and December 2022 were divided into control and research groups (n = 73) using a random number table. Based on continuous epidural block, vaginal delivery was performed in a routine obstetric position for the control group and in free positions (sitting, walking, standing, kneeling, squatting, and lying on the side) for the research group. The duration of labor, neonatal asphyxia rate, genital tract injury rate, delivery outcomes, sense of control during childbirth, fear of childbirth, and postpartum fatigue were compared.

Results: The research group had significantly shorter first stage of labor, second stage of labor, third stage of labor and total stage of labor than those of the control group (p < 0.05). The two groups had similar Apgar scores of neonates (p > 0.05). In the research group, the neonatal asphyxia rate and genital tract injury rate were significantly lower than those of the control group (p < 0.05). The research group had a higher natural delivery rate and lower rates of conversion to cesarean section and assisted vaginal delivery than those of the control group (p < 0.05). The score of internal control sense, score of external control sense and total score of control sense of the research group were higher than those of the control group (p < 0.05). In the research group, the scores of fears of neonatal health, delivery control, pain and hospital intervention and total score of fear were lower than those of the control group (p < 0.05). The research group had lower scores of immediate postpartum fatigues, 1-h postpartum fatigue, and 2-h postpartum fatigue than those of the control group (p < 0.05).

Conclusions: Continuous epidural block combined with free positions can significantly shorten the duration of labor, reduce the incidence rate of genital tract injuries, increase the sense of control during childbirth, and ease the fear of childbirth and postpartum fatigue.

Objectives: This article aimed to systematically review the literature on smooth muscle tumors of uncertain malignant potential, known as STUMPs. These tumors pose both diagnostic and therapeutic challenges.

Material and methods: A literature search was conducted in PubMed using the keyword STUMP, covering articles from the last 5 years. Relevant articles were retrieved in full format and reviewed for additional references, from which further eligible articles were also included RESULTS: STUMPs often resemble leiomyomas or leiomyosarcomas. While they typically have a benign course, some patients may experience recurrence and distant metastasis. There are no standardized guidelines for treatment; however, hysterectomy is commonly performed, or myomectomy may be considered to preserve fertility.

Conclusions: The findings highlight the necessity for additional studies to standardize the diagnosis and treatment of these tumors. Continuous monitoring of patients post-surgery is essential to identify any recurrence or metastasis.