International Journal of Women's Health最新文献

Background: Simultaneous intrauterine and rudimentary horn pregnancies are exceedingly rare, particularly when one arises from assisted reproduction and the other naturally. Early diagnosis is essential to prevent life-threatening complications, such as rudimentary horn rupture. Careful ultrasound evaluation is critical to detect subtle congenital uterine anomalies that may otherwise go unrecognised.

Case presentation: A 39-year-old woman with primary infertility and multiple intramural fibroids conceived naturally and via intracytoplasmic sperm injection (ICSI). Her 43-year-old husband had oligo-astheno-teratozoospermia. After myomectomy and counselling, she underwent donor oocyte ICSI with her husband's sperm; the second cycle resulted in conception. Four weeks later, a transvaginal ultrasound confirmed a viable intrauterine pregnancy. At seven weeks, a second gestational sac was noted in the rudimentary horn. Three-dimensional ultrasound confirmed a unicornuate uterus with a non-communicating rudimentary horn unconnected to the cervical canal or main cavity. At 12 weeks, ultrasound-guided fetocide was performed using 0.2 mL of potassium chloride. The intrauterine pregnancy progressed uneventfully, culminating in a cesarean delivery at 34 weeks of a healthy female neonate weighing 2.3 kg. Both mother and infant remained well at the six-week follow-up.

Conclusion: This case illustrates the rare coexistence of a natural rudimentary horn pregnancy and an ICSI-conceived intrauterine pregnancy in a unicornuate uterus. It highlights the importance of detailed, high-resolution imaging, vigilant antenatal surveillance, and timely multidisciplinary management to ensure favourable maternal and fetal outcomes.

Given the clinical heterogeneity and generally poor prognosis of X-linked myotubular myopathy (XLMTM), the identification of prenatal indicators and relevant medical history is imperative. However, studies specifically addressing the prenatal manifestations of this condition remain limited. Therefore, we investigated a case of XLMTM characterized by persistent polyhydramnios and conducted a comprehensive literature review. A neonate diagnosed with XLMTM was identified at the Fujian Provincial Maternity and Children's Hospital, Fuzhou, China. Genetic analysis, including whole exome sequencing (WES) and Sanger sequencing, was performed on the infant and his parents. Pathogenic variants were classified following American College of Medical Genetics and Genomics criteria. A literature review examined prenatal features of polyhydramnios in male infants with XLMTM. The mother experienced persistent idiopathic polyhydramnios and underwent amniotic fluid reduction and prenatal diagnosis. Despite normal fetal karyotyping and single nucleotide polymorphism-array findings, the neonate, born at 36 weeks, had severe respiratory failure and died 1.5 h post-resuscitation. WES identified a pathogenic hemizygous frameshift mutation within exon 10 of MTM1 (c.968_969delinsT, p.K323Mfs*2). A literature review revealed phenotypic variability in XLMTM, with single-nucleotide variations being the most common mutation type. The novel MTM1 mutation (c.968_969delinsT, p.K323Mfs*2) caused XLMTM in this case. The prenatal characteristics exhibited by the mother, including persistent amniotic fluid and reduced fetal movement, highlight the need for WES in high-risk pregnancies, offering critical insights for prenatal diagnosis and genetic counselling.

Background: Initiation of breastfeeding is high in Saudi Arabia whereas the continuity of exclusive breastfeeding is low since there is a shortage of trained health professionals.

Aim: This systematic review evaluates the influence of training healthcare professionals on breastfeeding outcomes in Saudi Arabia in comparison to WHO/UNICEF standard.

Methods: A Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) systematic review was undertaken. Different databases were searched from 2000 to 2024. Participants in the study were experimental, quasi-experimental studies, cross-sectional studies, and qualitative studies that provided training to health professionals in breastfeeding support. Selection of studies, data extraction, and judgment of the quality of studies were performed by two reviewers using the JBI and Cochrane risk of bias tools.

Results: A total of 21 studies were analyzed. Most of these studies reported appreciable gains in the knowledge and practical assistance of health care providers following structured training interventions. Interventions that used a combination of theoretical teaching and practical components were the most effective. In the Saudi context, the effects of training were seen in improved self-efficacy scores and increased counselling skills with some of the programs reporting up to 60% improvement. While most studies have demonstrated improvements in exclusive breastfeeding rates following training, several have highlighted persistent barriers, such as insufficient and inadequate hospital education and training, as well as inadequate institutional support, which may undermine the long-term sustainability of the program.

Conclusion: They study demonstrates that ongoing structured training and combined policy action remains needed. Decision makers need to focus on providing training to health professionals in breastfeeding support results in quantifiable improvement in knowledge and practice. Mandatory BFHI-aligned training, institutional support, and policy integration are urgently needed to increase EBF rates in Saudi Arabia.

Syphilis is a sexually transmitted infection caused by Treponema pallidum, primarily transmitted by sexual intercourse. Secondary syphilis is characterized by lesions on the skin and mucosal membranes, including condyloma lata (CL), occurring in 17% of secondary syphilis cases. Papules or flat-colored skin plaques are characteristic of CL. They are typically found in humid regions, such as skin folds, including the labia majora, perianal area, axilla, interdigital spaces, and inframammary folds. Presentation in an open region of the body, such as the nipple and the surrounding area of the breast, is rare. Herein we report a case of a 30-year-old female presenting with papules on both breasts and roseola syphilitica with Biett's collarette on both palms and soles that had not been pruritic nor painful for three weeks. The patient has been treated for human immunodeficiency virus (HIV) for the past year. The patient was involved in prostitution for three years, with a total of 6 sexual partners. T. pallidum Hemagglutination Assay (TPHA) and the Venereal Disease Research Laboratory (VDRL) were reactive, with a VDRL titer of 1:8. The patient received a single dose of benzathine penicillin 2.4 million IU injected intramuscularly. The histopathology examination from papules on the breast confirmed the diagnosis of CL, which revealed lymphoplasmacytic infiltrates around the blood vessels and plump endothelial cells. The skin-colored papules on both areolas and the rash associated with secondary syphilis on both palms and soles began to fade two weeks after the intramuscular injection of single dose benzathine penicillin 2.4 million IU. Unusual presentation of secondary syphilis outside predilection sites is possible. A high degree of suspicion is warranted when unusual papules are present, especially with a background of multiple sexually transmitted diseases and immunocompromised condition.

Purpose: To compare thyroid function in patients with premature ovarian insufficiency (POI) with control women of reproductive age and to look into the potential association between thyroid function and metabolic markers in POI patients.

Patients and methods: This cross-sectional case-control study enrolled 227 initially diagnosed POI patients and 232 controls with regular menstrual periods, all aged 20-40 years. Serum levels of thyroid hormones were compared between the two groups. In women with POI, further correlation analysis of thyroid function with sex hormones and metabolic markers was conducted.

Results: Women with POI exhibited higher serum concentrations of free triiodothyronine (FT₃) (4.43 ± 0.55 pmol/L vs 4.22 ± 0.48 pmol/L, P < 0.001), free thyroxine (FT₄) (14.07 [12.93, 15.37] pmol/L vs 13.11 [12.31, 13.87] pmol/L, P < 0.001), and a higher proportion of thyrotropin (TSH) ≥ 2.5 mIU/L (22.47% vs 15.09%, P = 0.043) than controls, with all values remaining within the normal reference range. Elevated serum levels of FT₃ and FT₄ were positively associated with POI. In POI patients, weak positive correlations of blood glucose with both FT₃ and FT₄ were observed, whereas no significant associations were found with other metabolic markers.

Conclusion: This study indicated that higher levels of thyroid hormones, with statistically significant but clinically subtle differences within normal ranges, were positively associated with POI. In women with POI, thyroid hormone levels also showed a weak positive correlation with blood glucose. Further investigation is needed to clarify the clinical significance of these findings.

Objective: To investigate the clinical application value of exome sequencing technology in fetuses with sonographically detected skeletal dysplasia.

Methods: A total of 80 pregnant women whose fetuses were diagnosed with sonographically detected skeletal dysplasia at 11⁺⁰ to 38⁺⁰ weeks of gestation in our hospital from March 2021 to January 2022 were enrolled in this study. G-banded chromosomal karyotype analysis (KA), chromosomal microarray analysis (CMA) and whole exome sequencing (WES) were simultaneously performed for all cases. Clinical data including maternal age, gestational week, prenatal ultrasound findings, results of KA, CMA and WES, and pregnancy outcomes were collected and subjected to statistical analysis.

Results: Limb shortening was the most common phenotypic manifestation of fetal skeletal dysplasia. The diagnostic yield of KA combined with CMA for fetal skeletal dysplasia was only 7.5% (6/80), while the additional combination with WES identified 43 positive cases, with an overall diagnostic yield of 53.75% (43/80). There was a statistically significant difference in the diagnostic yield between the two detection protocols (χ²=50.19, P<0.001), with an absolute increase of 46.25% in the diagnostic yield after the integration of WES. The most common clinical disorders caused by pathogenic genes included osteogenesis imperfecta, achondroplasia and thanatophoric dysplasia. The majority of pathogenic variants were de novo mutations, mainly involving the COL1A1, FGFR2 and FGFR3 genes. Among the 43 WES-positive cases, 34 pregnancies opted for termination of pregnancy.

Conclusion: Whole-exome sequencing technology holds important application value in the prenatal diagnosis of fetal skeletal system diseases, and provides a more accurate evidence base for genetic counseling and clinical decision-making.

Background and aim: Pre-eclampsia, while poorly understood, is a major public health concern in Africa and one of the leading causes of maternal morbidity and mortality. Its prevention and treatment depend on early detection. Sadly, many mothers globally have limited knowledge of the same. The present study evaluated the level of knowledge of Pre-eclampsia and its risk factors among pregnant mothers attending antenatal care in Lango sub-region, northern Uganda.

Methods: A descriptive cross-sectional study was conducted among 250 pregnant women attending antenatal care at Lira regional referral hospital using a consecutive sampling technique to recruit study participants who met the inclusion criteria. Data was collected using a validated well-structured questionnaire and analyzed at univariate and bivariate levels employing binary logistic regression using Statistical Package for Social Sciences (SPSS) version 23.

Results: 71.2% of the study participants had never heard of pre-eclampsia while 71.6 had no idea when one is most likely to experience preeclampsia. Only 26% of the participants had received health education talks regarding pre-eclampsia whereas 16.8% had adequate knowledge of pre-eclampsia and its risk factors. The level of knowledge of pre-eclampsia and its risk factors was associated with the participants' level of education, and age (P-values ≤ 0.05).

Conclusion: The knowledge level of pre-eclampsia and its risk factors among pregnant women attending antenatal care was very low in Lango sub-region, Northern Uganda based on education level and age. More efforts are needed to educate mothers on the danger of pre-eclampsia and its risk factors in this particular region and Uganda as a whole.

Purpose: In this study, we applied two-sample Mendelian randomization (MR) to explore the causal effects between gut microbiota (GM), immune cells, and endometrial cancer (EC) subtypes and to assess whether immune cells mediate the impact of GM on EC.

Patients and methods: Using two-sample Mendelian randomization and mediation analysis, we analyzed GWAS data: GM (Dutch Microbiome Project; N=7738), EC subtypes (IEU Open GWAS; N=331,588), and immune traits (N=3757). We assessed the effects of the causal gut microbiota on EC subtypes and immune trait mediation.

Results: Subtype-specific causal relationships were identified.Overall EC: Four positive (e.g. genus Erysipelotrichaceae noname) and three negative (e.g. species Bacteroides faecis) microbial causal effects; three mediated by immune traits (e.g. Ruminococcus obeum via CD86+ myeloid DC AC). Endometrioid EC: Five negative (e.g. class Bacilli) and two positive (e.g. species Aspergillus senegalensis) effects; three immune-mediated (e.g. Bacilli via IgD+ CD38br % lymphocytes). Non-endometrioid EC: Two positive (e.g. species Bacteroides stercoris) and one negative (species Ruminococcus bromii) effect; one mediated (Ruminococcus bromii via CD8br NKT % lymphocytes).

Conclusion: Immune traits significantly mediated causal pathways from GM to EC development. It also highlighted the distinct causal relationships and immune-mediated mechanisms across the three major EC subtypes (overall, endometrioid, and non-endometrioid). These subtype-specific insights into the gut-immune-cancer axis provide novel perspectives for developing therapeutic strategies targeting GM and the immune microenvironment in different EC subtypes.

Purpose: Adenomyosis and endometriosis are both recognized as etiological factors in the development of dysmenorrhea; however, their respective contributions to this condition remains ambiguous. This study aims to examine the distinct contributions of adenomyosis and endometriosis to the symptomatology of dysmenorrhea.

Patients and methods: A total of 480 women undergoing laparoscopy for benign conditions were included, among whom 238 were diagnosed with endometriosis and 236 with adenomyosis. Preoperative assessments of general pain severity of dysmenorrhea and 18 specific menstrual symptoms were conducted utilizing the Visual Analog Scale (VAS) and the COX Menstrual Symptom Scale. Symptom clusters were identified using correlation analyses, hierarchical cluster analysis and graphical least absolute shrinkage and selection operator (GLASSO) network analysis. These clusters were further corroborated by examining the varied correlations between symptoms and VAS scores using Spearman correlation, as well as the distinct patterns of how adenomyosis-related key uterine dimension and endometriosis affected these symptoms through logistic regression analysis.

Results: Three distinct clusters of menstrual symptoms were identified. One cluster, which included cramps, nausea, vomiting, loss of appetite, stomachache, and insomnia, demonstrated a close correlation with VAS pain scores. The symptoms within this cluster were influence by common influencing factors, particularly increased uterine anteroposterior diameter and the presence of endometriosis, with a consistent pattern. These characteristics substantiate the classification of these symptoms as the core dysmenorrhea cluster. Although endometriosis exacerbated these symptoms, their severity was not further amplified by higher revised American Society for Reproductive Medicine (rASRM) scores.

Conclusion: Menstrual symptoms can be primarily categorized into three distinct clusters, with one cluster potentially representing the core symptoms associated with dysmenorrhea. An increased uterine anteroposterior diameter, probably attributed to adenomyosis, serve as a significant imaging correlate of dysmenorrhea severity, while endometriosis primarily acts to exacerbate them.

Background: Vulvar squamous cell carcinoma (VSCC), although rare, poses substantial clinical challenges due to frequent late-stage diagnosis, quality-of-life-impairing surgical interventions, and the availability of limited therapeutic options following recurrence. Therefore, exploration of the pathogenesis of vulvar cancer, and identification of effective therapeutic targets based on the biological pathways of disease progression, offer great value in improving patients' survival duration and quality of life.

Patients and methods: Herein, we investigated the influence of C-X-C motif chemokine ligand 8 (CXCL8) on the proliferation of vulvar squamous cancer cells and the underlying mechanisms, as well as their influence on the prognosis of patients with VSCC.

Results: Using a combination of RNA sequencing and Gene Expression Omnibus (GEO) database analysis, CXCL8 was identified as a differentially expressed gene in vulvar cancer tissue in comparison with adjacent normal tissue. Immunohistochemical analysis of selected clinical specimens revealed that CXCL8 was statistically upregulated in vulvar squamous cancer tissues in comparison with adjacent normal tissue, and this upregulation was correlated with shorter progression-free survival and overall survival. Functional assays demonstrated that CXCL8- mediated proliferation enhancement in VSCC cell lines (SW962/A431) in a dose- and time-dependent manner. Cell cycle analysis showed that exogenous CXCL8 drove a G0/G1-to-G2/M phase transition in SW962 and A431 cells. Transcriptomic profiling explored CXCL8-activated pathways, including cytokine-cytokine receptor interaction, transforming growth factor (TGF)-β signaling pathway, and tryptophan metabolism.

Conclusion: These findings highlight CXCL8 as a potential prognostic biomarker for VSCC and underscore its role in driving tumor proliferation, providing a rationale for targeting CXCL8 in vulvar cancer therapy.