搜索结果：Taiwanese journal of obstetrics & gynecology

Research has identified various drivers that have resulted in the over-medicalisation of pregnancy monitoring and birthing practices in Taiwan. Other women's health concerns beyond reproduction, however, remain under studied. To address this gap, this study explored women's and healthcare professionals' experiences and perceptions of gynaecological care at Taiwanese healthcare facilities. Interviews were conducted with gynaecologists, obstetrics and gynaecology nurses, and women who had experienced a pelvic examination at a Taiwanese obstetrics and gynaecology department. A thematic analysis of their narratives demonstrates that pelvic examinations are underused for a variety of reasons driven by different actors, policies and conceptualisations of modern medicine and women's health, many of which reflect those that contribute to an over-medicalisation of reproduction. This over-medicalisation of reproduction, together with the under-medicalisation of gynaecological health, reveals the extent to which women's health is equated with reproduction in the Taiwanese healthcare system and wider society. This phenomenon poses risks to women's health due to both excessive intervention in reproductive processes alongside the underdiagnosis and misdiagnosis of other health concerns unrelated to reproduction.

Thalassemias, including alpha and beta thalassemia, are the most common monogenic inherited Mendelian disorder in Taiwan. The mutation spectrums of alpha and beta thalassemia are well known in the Taiwanese population. Among them, mutations with the format of large deletions are more prevalent in alpha thalassemia whereas point mutations or small insertion/deletions (indels) are much more prevalent in beta thalassemia. Hereditary persistence of fetal hemoglobin (HPFH), a clinical subtype of beta thalassemia, is a relative uncommon condition during prenatal diagnosis in the Taiwanese population, most often caused by large deletions and may escape diagnostic panels based on Sanger sequencing. This study aimed to explore the feasibility of third-generation long read sequencing (LRS) in the genetic diagnosis of such rare condition in a prenatal setting. A woman at her second trimester pregnancy went to our hospital due to a high suspicion was impressed that both she and her husband were carriers of beta thalassemia by their primary care obstetricians. Due to time constraint in a prenatal setting, the blood samples of both couple and the fetal sample (obtained through amniocentesis) were simultaneously taken and genotyping of beta-globin gene was performed in the family trio. Beta-globin gene sequencing together with karyotyping and chromosome microarray were conducted in the fetal sample (amniotic fluid). Initial results by Sanger sequencing-based molecular diagnostics for beta-globin gene only depict the maternal mutation allele whereas a large deletion of the beta-globin gene may be hidden in the fetus and the father with unknown size was suspected from the chromosome microarray result. LRS therefore was performed and a very rare 27411-bp deletion was noted both in the fetus and the father, and further confirmed by the methodologies based upon polymerase chain reaction (PCR). LRS can aid in the prenatal diagnosis of rare conditions like HPFH, given the current practice that Sanger sequencing-based molecular diagnostic platform is utilized here in Taiwan as first-line for beta thalassemia. Meanwhile, high resolution chromosome microarray, like the oligonucleotide array comparative genomic hybridization in this study, can also aid in the genetic diagnosis of deletion-type beta thalassemia, despite the actual size and breakpoints of the deletion may only be delineated by LRS in a straight-forward fashion, and can be further verified with traditional PCR-based methodologies.

Background: Non-alcoholic fatty liver disease (NAFLD) represents the most widespread chronic liver disorder globally, impacting roughly 30% of the general population. Numerous factors have been linked to NAFLD, including obesity, type 2 diabetes, diet, physical inactivity, age, sex, genetic factors, and metabolic syndrome. Previous research predominantly treated NAFLD as a categorical outcome, providing less granular data compared to the continuous fatty liver index (FLI). This investigation enrolled healthy young Taiwanese men and applied multivariate adaptive regression spline (MARS) modeling to develop a predictive equation. Our aims were twofold: 1. To assess the predictive accuracy of traditional multiple linear regression (MLR) versus MARS. 2. To construct a MARS-derived equation for estimating FLI in this demographic. Methods: Data originated from the Taiwan MJ Cohort, comprising 5496 men aged 20-50 years not using medications for metabolic syndrome. MARS was used to formulate the FLI estimation equation. Model performance was compared using symmetric mean absolute percentage error (SMAPE), relative absolute error (RAE), root relative squared error (RRSE), and root mean squared error (RMSE). Results: Evaluation indicated that MARS yielded lower estimation errors than MLR, demonstrating its superior performance. The derived equation is: FLI = 65.224 - 0.436 × B1 - 0.490 × B2 + 0.252 × B3 - 2.962 × B4 + 2.231 × B5 - 0.292 × B6 + 0.189 × B7 - 0.361 × B8 - 0.699 × B9 + 0.160 × B10 - 2.715 × B11 + 0.799 × B12 - 0.153 × B13 + 0.084 × B14 - 35.274 × B15 - 4.424 × B16. Conclusions: Using MLR as a benchmark, our analysis revealed that MARS delivered better predictive performance. The presented equation explains 62.7% of the variance in FLI (r2 = 0.627). Based on standardized variable importance scores (nsubsets metric), CRP emerged as the most influential predictor, followed by WBC, UA, HDL-C, AST, age, ALT, FPG, SBP, and LDL in this cohort of healthy young Taiwanese men.

Given encouraging clinical evidence of BRAF inhibitors for melanoma, etc., we investigated BRAF mutation status in ovarian clear cell carcinoma (OCCC) from Taiwanese women and assessed the association of BRAF mutation with KRAS mutation. DNA was extracted from microdissected tissue samples and analyzed for BRAF mutations in exon 15, around the activation segment (AS), using a highly sensitive BRAF mutant enrichment kit (FemtoPath®) with Sanger sequencing. All 17 OCCC cases were evaluated. 16 (94.12 %) harbored BRAF missense mutations, categorized as Class I - p.V600M (n = 3); Class II - p.A598V (n = 8), p.T599I (n = 10); Class III - none; and unclassified (UC) variants - p.A598T (n = 1), p.A598I (n = 1), p.S602A (n = 1), p.S602F (n = 7). These mutations occurred as single-point (n = 6), double-point (n = 5), or triple-point (n = 5) mutations. The most frequent mutation observed was p.T599I (n = 10), followed by p.A598V (n = 8) and p.S602F (n = 7). The p.A598I, p.S602A, and p.S602F are novel BRAF alterations. Merging our previous KRAS data, we found that concurrent KRAS and BRAF mutations in 11 of 17 cases (64.71 %) suggest a possible synergistic effect in OCCC tumorigenesis. Activating BRAF mutations are common in OCCC in Ascian Taiwanese, with p.T599I most prevalent. This suggests the potential for reduced response to current BRAF V600 inhibitors but possible sensitivity to dual BRAF/MEK or MEK inhibitors, other multi-targeted approaches, and new avenues for cancer immunotherapy. Further studies are encouraged to investigate the clinical benefits of these approaches for advanced OCCC with various BRAF mutation classes.

Nonalcoholic fatty liver disease (NAFLD) is the most common chronic liver disease worldwide. While many factors have been associated with NAFLD, their relative importance in healthy young populations remains unclear. In this study, we enrolled 7,037 healthy young Taiwanese men aged 20-50 years and applied five machine learning (Mach-L) methods to identify the most important predictors of the fatty liver index (FLI). Two models were constructed: Model 1 included all 28 variables, while Model 2 excluded body fat (BF) to unmask the contribution of other factors. In Model 1, BF was the most important predictor (100% relative importance), followed by serum glutamic pyruvic transaminase (SGPT; 34.54%), high-density lipoprotein cholesterol (HDL-C; 16.51%), age (9.91%), uric acid (UA; 7.17%), and fasting plasma glucose (FPG; 6.25%). In Model 2, after removing BF, the most important predictors were SGPT (100%), HDL-C (36.82%), UA (24.90%), C-reactive protein (21.23%), age (10.05%), and FPG (8.17%). All five machine learning methods outperformed traditional multiple linear regression. These findings highlight the central role of adiposity while also revealing the independent contributions of metabolic, inflammatory, and hepatic factors to FLI in young healthy men.

Women with gestational diabetes mellitus (GDM) are at increased risk of low blood sugar levels immediately after childbirth, and their babies are also at risk of macrosomia. Using the obstetric registry system in our hospital, we retrospectively assess the commonly occurring adverse maternal and infant outcomes in Taiwanese women with GDM. We performed a hospital-based, retrospective cohort study. Women with singleton term pregnancy (≥37 weeks) aged 18-55 years at conception with live birth were identified from our registry from 2009 to 2022. Maternal outcomes included antenatal complications. Neonatal outcomes included macrosomia and birth defects. The dissimilarities between the GDM and non-GDM comparison groups, between age at conception younger or older than 35 years in infants with or without macrosomia, and between the macrosomic and the propensity-score matched non-macrosomic comparison groups were compared using the Pearson's chi-squared (χ2) test for categorical variables and student's t-test for continuous variables. Multiple logistic regression models were used to evaluate the risk of selected maternal and neonatal outcome variables in women with GDM and in women older than 35 years at conception, whereas conditional logistic regression model was used to control the unmatched confounders in infants with macrosomia. To minimize the confounding effects, a propensity-score matched macrosomia and non-macrosomia group based on the propensity score was created before applying the conditional logistic regression. Among the 31,081 pregnant women included in our study cohort, one-sixth of them belonged to the GDM group (n = 5004). Compared to the non-GDM comparison group, pregnant women in the GDM group were more likely to be 35 years or older at conception with 37-38 weeks of gestation, overweight or obese, primiparous, conceived by assisted reproductive technology, holders of a university or postgraduate degree, and delivered in regional hospitals more frequently in the later years of study. After covariate adjustment, women in the GDM group were more likely to be associated with higher rates of hypertensive disorders, and their infants were associated with higher rates of fetal macrosomia and respiratory distress syndrome, even among younger women with normal body mass index (BMI). The present study suggests that GDM is associated with increased risks of adverse maternal and neonatal outcomes, even among younger women with normal BMI.

Recognition of homologous recombination deficiency (HRD) has revolutionized ovarian cancer (OC) treatment paradigm. Our study aimed to determine the prevalence of HRD in Taiwanese patients with high-grade serous ovarian cancer (HGSOC), high-grade endometrioid ovarian cancer (HGEOC), primary peritoneal cancer (PPC), and/or fallopian tube cancer (FTC). The HALO-Taiwan, a cross-sectional, noninterventional study (NCT04991051) enrolled patients with stage III/IV HGSOC, HGEOC, PPC, or FTC having formalin-fixed paraffin-embedded tumor tissue blocks collected within the past 120 days of enrollment. The primary outcome was the prevalence of HRD. The secondary outcomes included prevalence of BRCA wild-type and loss of heterozygosity (LOH) positive status, tumor BRCA1/2 mutations, and other pathogenic mutations. The association of LOH status with demographic factors and pathogenic mutations was assessed using Cramer's V. Of 68 patients (median age [range]: 60.0 [39.0-81.0] years) enrolled, the majority (92.6%) had primary OC followed by PPC (2.9%) and FTC (4.4%). The overall prevalence of HRD was 52.9%; 14.7% had tumor BRCA mutations, and 38.2% had BRCA wild-type LOH-positive status. LOH status showed a strong, significant positive correlation with age and ECOG status (V=0.50, p=0.027, for both). The HALO-Taiwan was the first observational study reporting HRD prevalence of 52.9% among patients with advanced OC in Taiwan. Our findings underscore the need to implement guideline-recommended testing for HRD as a part of the initial diagnostic work-up for all newly-diagnosed advanced high-grade OC patients to optimize treatment strategies. ClinicalTrials.gov Identifier: NCT04991051.

To review the evolution, outcomes and safety of transvaginal mesh (TVM) use for pelvic organ prolapse (POP) repair in Taiwan from January 2004 to May 2025. A systematic literature search in PubMed using MeSH terms "transvaginal mesh" AND "Pelvic organ prolapse", yielding 856 articles. Of these 96 Taiwanese studies were included, comprising 10 prospective trials, 1 meta-analysis, and the remainder retrospective studies. A total of 88 study cases involving various mesh types were analyzed. Objective cure rates exceeded 90% at 1-year across most mesh types, with significant improvements in quality of life measured by validated questionnaires (POPDI-6, IIQ-7, UDI-6, PISQ-12). Mesh extrusion rates with newer generation meshes (2019-2023) ranged from 0.8% to 4.8%. Most complications, such as urinary tract infections and voiding dysfunction, were minor and manageable. Surelift, Calistar-S and MIPS, the only currently approved meshes for transvaginal use in Asia, showed promising one-year cure rates, all exceeding 92%. Surelift demonstrated superiority more than native tissue repair at 5 years, with success rates of 89.1% vs. 64.4% (p = 0.002). Older age was associated with increased risk of voiding dysfunction and recurrence (HR 1.07, if > 64 years). Obesity did not increase mesh-related complications but has greater postoperative symptom burden. Concomitant MUS effectively reduced de novo stress urinary incontinence from 31.2% to 5%. TVM continues to be a reliable and effective option for POP management. Taiwan's experience highlights the importance of proper training, patient selection, and surgical refinement in minimizing complications. Long-term follow-up and awareness of red-flag symptoms remains essential.

Gestational diabetes mellitus (GDM) is a metabolic disorder characterized by glucose intolerance first recognized during pregnancy. Thus, women with a history of GDM might be at increased risk of developing serious liver disease. However, this association is unclear in the Taiwanese population. This study investigated the association between GDM and liver cirrhosis or fibrosis. This is a retrospective cohort study. The participants were collected from the National Health Insurance Research Database. The study included women aged 18-52 years who gave birth in Taiwan between 2002 and 2017. Of the 145 974 total participants, 133 794 were women without GDM and 12 153 had GDM. We applied the Cox proportional hazards model to calculate hazard ratios (HRs) for potential risk factors associated with liver cirrhosis or fibrosis. Our results demonstrate that women with a GDM history were not at increased risk of developing liver cirrhosis or fibrosis compared to those without GDM (hazard ratios [HR]: 0.58, 95% confidence interval [CI]: 0.31-1.09), even after adjustment for potential confounders (adjusted HR: 0.56, 95% CI: 0.30-1.06). Among women without a history of GDM, those who subsequently developed DM had an increased risk of liver cirrhosis or fibrosis compared with those without developed DM (HR: 2.45, 95% CI: 1.54-3.90), even after adjustment for potential confounders (adjusted HR: 1.93, 95% CI: 1.19-3.13). However, this association was not observed among women with a history of GDM who developed DM, compared with those who remained free of DM. We showed that age (adjusted HR: 2.61; 95% CI: 1.94-3.51), hypertension (adjusted HR: 2.27; 95% CI: 1.03-4.98), and dyslipidemia (adjusted HR: 2.84; 95% CI: 1.30-6.22) increased the risk of developing liver cirrhosis or fibrosis. Notably, hypertension remained a significant risk factor among women without a history of GDM. A history of GDM was not associated with an increased risk of developing liver cirrhosis or fibrosis. However, women without a history of GDM who later developed DM exhibited a significantly higher risk of liver cirrhosis or fibrosis.

Recent advancements in non-invasive collection methods and technological innovations have significantly enhanced the analysis of human gut microbiota, which has become a key approach for understanding complex disease pathogenesis. Epidemiological studies and clinical trials have revealed intriguing connections between Parkinson's disease (PD) and diabetes mellitus (DM). In this study, microbial populations from fecal samples of patients with PD and DM were analyzed. The prospective cohorts included four groups: PD only (n&#x2009;=&#x2009;32), DM only (n&#x2009;=&#x2009;170), and concurrent PD and DM (n&#x2009;=&#x2009;10), matched with healthy controls (n&#x2009;=&#x2009;98) by age and comorbidities. Fecal samples underwent full-length (V1-V9) 16&#xa0;S rRNA sequencing analysis, and clinical and laboratory variables were collected. The results revealed an increased abundance of Lactobacillus salivarius in patients with PD (linear discriminant analysis [LDA]&#x2009;=&#x2009;2.58, p value&#x2009;<&#x2009;0.05) or DM (LDA&#x2009;=&#x2009;2.20) compared to healthy controls. Similarly, an elevated abundance of the genus Akkermansia was observed in patients with PD (LDA&#x2009;=&#x2009;4.39) or DM (LDA&#x2009;=&#x2009;3.92). These findings suggest that gut microbiota alterations, particularly involving L. salivarius and Akkermansia spp., may play a role in the pathogenesis of PD and DM, warranting further investigation into their significance.

Low-pass whole genome sequencing (LP-WGS), which provides genome-wide coverage ranging from &#xd7;0.5 to &#xd7;5.0, has recently emerged as a promising tool for identifying chromosomal abnormalities in clinical samples. Here, we sought to investigate the feasibility and clinical utility of LP-WGS in detecting somatic copy number alterations (SCNAs) using formalin-fixed paraffin-embedded (FFPE) tissue samples from patients with uveal melanoma (UM) in an Asian population. A retrospective study was conducted on 11 Taiwanese patients with UM who underwent enucleation between 2007 and 2021. Four participants had undergone additional treatment modalities prior to enucleation, including proton therapy (n = 2), external-beam radiation therapy (n = 1), and gamma knife (n = 1). LP-WGS was performed on DNA extracted from FFPE tissue sections. SCNAs were analyzed in relation to clinical outcomes, and the correlation between monosomy 3 and BAP1 protein expression was investigated. LP-WGS successfully identified SCNAs in nine of 11 (81.8%) tumor specimens, including those from patients who had received treatment before enucleation. Of the two cases yielding noninformative results, one had previously undergone proton therapy. Gain of chromosome 8q, monosomy 3, and loss of chromosome 1p were detected in all five patients who ultimately died of disease.&#xa0;Furthermore, a potential correlation was observed between monosomy 3 and the loss of BAP1 protein expression by immunohistochemistry. LP-WGS appears feasible for SCNAs detection in FFPE uveal melanoma specimens, including cases previously treated before enucleation, and holds promise to inform prognostic stratification in this rare tumor type. The successful application of LP-WGS to FFPE uveal melanoma specimens supports prospective investigations in rare cancers and may enable the development of personalized treatment strategies.

Predicting complex disease risks on the basis of individual genomic profiles is an advancing field in human genetics1,2. However, most genetic studies have focused on populations of European ancestry, creating a global imbalance in precision medicine and underscoring the need for genomic research in non-European groups3,4. The Taiwan Precision Medicine Initiative recruited more than half a million Taiwanese residents, providing a large dataset of genetic profiles and electronic medical record data for people with Han Chinese ancestry. Using extensive phenotypic data, we conducted comprehensive genomic analyses across the medical phenome with individuals genetically similar to Han Chinese reference populations. These analyses identified population-specific genetic risk variants and new findings for various complex traits. We developed polygenic risk scores, demonstrating strong predictive performance for conditions such as cardiometabolic diseases, autoimmune disorders, cancers and infectious diseases. We observed consistent findings in an independent dataset, Taiwan Biobank, and among people of East Asian ancestry in the UK Biobank and the All of Us Project. The identified genetic risks accounted for up to 10.3% of the overall health variation in the Taiwan Precision Medicine Initiative cohort. Our approach of characterizing the phenome-wide genomic landscape, developing population-specific risk-prediction models, assessing their performance and identifying the genetic effect on health serves as a model for similar studies in other diverse study populations.

Nutrition literacy (NL) during pregnancy is important for both mothers and infants. The present study aimed to develop a scenario-based instrument to measure the NL abilities of pregnant women and test the validity and reliability of this instrument. The development of the instrument comprised six phases: (1) identification of key domains through literature review; (2) a Delphi survey; (3) development of a scenario-based test; (4) evaluation of content validity; (5) pilot test; and (6) assessment of the instrument's psychometric properties. A convenience sample of 489 pregnant Taiwanese women was used to assess NL via a 22-item scenario-based scale across four domains: "understand", "analyse", "appraise", and "apply". Item Response Theory analysis showed that most items provided the greatest precision for respondents with low to moderate ability levels (&#x3b8; = -3 to 0). Confirmatory factor analysis supported a second-order, four-factor model. Internal consistency was acceptable (Cronbach's &#x3b1; = 0.78), and item-total correlations ranged from 0.31 to 0.53 (p < 0.001), indicating strong reliability. The validated Nutrition Literacy Scale is psychometrically sound and suitable for research, clinical use, and future interventions to improve NL and dietary behaviours during pregnancy.

The prognostic significance of glandular involvement in high-grade squamous intraepithelial lesions (HSIL) following cervical conization remains unclear. This research aimed to evaluate the clinical impact of glandular involvement on surgical outcomes. Between December 2019 and December 2020, 119 patients who underwent cervical conization were retrospectively observed. Patient characteristics, such as human papillomavirus (HPV) status, cytology results, glandular involvement, conization specimen depth and volume, margin status, and recurrence were collected and analyzed. Glandular involvement was significantly associated with positive endocervical margins (22.0 % vs. 6.5 %, p = 0.017), higher prevalence of preceding HSIL or CIN (cervical intraepithelial neoplasm)2/CIN3 cytology (60.4 % vs. 42.0 %), and increased HPV16 infection among high-risk HPV positive patients (69.2 % vs. 34.8 %, p = 0.050). No significant differences were observed in recurrence rates among patients with HSIL with or without glandular involvement. Multivariable analysis identified that margin status is the only independent predictor of recurrence (positive margin: OR [odds ratio] 26.85, 95 % CI [confidence interval] 2.59-277.86, p = 0.006 or uncertain margins: OR 29.90, 95 % CI 1.09-818.17, p = 0.044). While glandular involvement in HSIL is associated with positive endocervical margins, abnormal preceding cytology, and higher risk of HPV16 infection, it does not independently predict recurrence following conization. Instead, positive surgical margins are the primary factor of recurrence, highlighting the value of achieving complete excision to optimize patient outcomes.

Epithelial ovarian cancer (OC) remains a lethal gynecologic malignancy, with approximately 70 % of patients relapsing within three years of frontline treatment. A clinically useful framework is to view advanced-stage ovarian cancer (ads-OC) as "two diseases" rather than a single uniform entity: one reflecting the classic course guided by the platinum-free interval (PF-I), and the second highlighting biologically defined subgroups where repeated relapses occur across multiple lines. This framework implies that optimal management should not be determined by PF-I alone but should be individualized using integrated disease biology and treatment context. Within these pathways, immunotherapy (IOT) has transitioned from ineffective monotherapy toward rational combination strategies designed to modulate the tumor microenvironment (TME) and overcome dominant immunosuppressive forces, such as regulatory T cells (Tregs) and tumor-associated macrophages (TAMs). Recent clinical evidence from the phase III ENGOT-ov65/KEYNOTE-B96 trial represents a historic milestone, demonstrating that the addition of pembrolizumab to weekly paclitaxel, with or without investigator-choice bevacizumab, significantly improves overall survival (OS) in patients with platinum-resistant rOC (PR-rOC) with PD-L1-expressing tumors, with OS benefit also observed in the intention-to-treat (ITT) population. These findings validate the potential of immune checkpoint inhibitor (ICI)-based regimens to reshape the therapeutic landscape in populations with substantial unmet need. Furthermore, biomarker development is moving toward a more structured framework, as proposed by SITC and NCI, emphasizing the need for standardized reporting and the exploration of emergent indicators. Institutional research further highlights that IOT-relevant biomarkers, such as PD-L1, are not fixed baseline characteristics but are dynamically upregulated by cytotoxic stress and cisplatin exposure, reflecting a compensatory immune-evasive state linked to platinum resistance. Ultimately, the management of rOC is evolving into a biologically informed, line-specific strategy that prioritizes the integration of IOT within established systemic backbones. The success of contemporary combination approaches underscores the necessity of interpreting biomarkers within a dynamic, treatment-contextualized framework. Future progress will depend on a bidirectional lab-to-trial paradigm, where mechanistic insights into treatment-induced immune modulation guide the design of precise clinical trials, ensuring that therapeutic strategies are tailored to the evolving immune context of each patient throughout the disease continuum. Beyond ICI, immune-relevant strategies targeting treatment-induced resistance pathways, exemplified by glucocorticoid receptor (GR) antagonism in the ROSELLA trial, suggest that indirect TME modulation may also yield clinically meaningful benefit in PR-rOC.

This study aimed to characterize HER2 mutations in Taiwanese mucinous ovarian carcinoma (mOC) and evaluate the potential of Enhertu (T-DXd) as a targeted therapy for HER2-mutant mOC. We previously reported a 33.3 % (n = 7/21) HER2 tyrosine kinase domain (TKD) missense mutation rate in mOC using hot-spot PCR and Sanger sequencing. In this study, HER2 mutations were assessed in 18 additional mOC samples using targeted next-generation sequencing (NGS). Data from earlier PCR (n = 21) and current NGS (n = 18) were combined, resulting in all 39 cases. The COSMIC database and PolyPhen-2 (Polymorphism Phenotyping v2) algorithm were used to evaluate the pathogenicity of HER2 mutations identified in the NGS cohort. HER2 mutations were detected in 43.6 % (n = 17/39) of cases. The PCR cohort (n = 21) from the previous 2 studies using PCR and Sanger sequencing identified seven TKD mutations. On the other hand, the NGS cohort (n = 18) from the present study using targeted NGS detected ten non-TKD mutations, with p.P1170A being the most frequent. PolyPhen-2 pathogenicity predictions indicated that p.P1170A and p.R143Q were likely pathogenic. Combining PCR and NGS data enhanced statistical power; however, the study was limited by the insufficient residual specimens from the PCR cohort for NGS reanalysis. Our findings reveal a high prevalence of HER2 mutations in mOC, with distinct profiles in TKD and non-TKD regions. These results support further investigation of Enhertu (T-DXd) as a promising targeted therapy for HER2-mutant mOC. Larger, multi-center studies are needed to validate these findings and explore clinical applications.

The prevalence of type 2 diabetes (T2M) has been increasing drastically in recent two decades. One of the main underlying pathophysiology was decreased insulin secretion (ISEC). Even though there were many studies found the related factors affecting ISEC, no study used multiple adaptive regression spline (MARS) to build an equation estimating ISEC. In the present study, we used MARS to estimate hemostasis assessment model of &#x3b2;-cell (HOMA-&#x3b2;) in healthy Taiwanese men. Totally, there were 317 men enrolled. Participants who were taking medications related to metabolic syndrome were excluded. MARS was used to build an equation to estimate HOMA-&#x3b2;. Multiple linear regression (MLR) was taken as a bench mark for comparing the accuracy with MARS. The method with less estimation errors was considered to be more accurate. All the estimation errors were smaller for MARS. This indicated that MARS outperformed MLR. The equation built is shown below. The r2 of this equation was 0.58. By using MARS, we built an equation which could accurately estimate HOMA-&#x3b2; in a healthy Taiwanese men cohort. The most important factor was HB, followed by TB, education level, sport area, GOT, GPT, and BF. This equation has a practical clinical use and could further explore which were the factors that were related to ISEC.

Chronic venous disease (CVD) is a prevalent vascular disorder with a poorly characterized genetic basis. In this study, we employed an integrative omics strategy combining genome-wide association studies (GWAS), expression quantitative trait loci (eQTL) mapping, endothelial cell functional assays, and transcriptomic correlation analysis to elucidate the molecular architecture of CVD. A GWAS conducted in a Taiwanese population identified two CVD-associated single nucleotide polymorphisms: VSTM2L rs1998049 and DPYSL2 rs1442887. Through eQTL analysis and endothelial functional assays, four QTLs (VSTM2L, RPRD1B, SAMHD1, and PNMA2) were found to significantly affect VEGF consumption, vWF expression, and endothelial tube formation. Co-expression and correlation analyses further linked these QTLs to key vascular effector genes, including VEGF, vWF, MMP9, and CCM2. A logistic regression model based on QTL expression profiles demonstrated high diagnostic performance (area under the curve, AUC&#xa0;=&#xa0;0.898), highlighting their translational potential. These findings offer novel insights into the functional genomics of CVD, particularly in relation to vascular remodeling, endothelial dysfunction, and inflammation. They also demonstrate the utility of multi-omics integration for biomarker discovery in complex vascular disorders.

Laparoscopic surgery has become increasingly prevalent in modern gynecologic practice. However, this approach is not without risks. The most dangerous step is insufflation of the abdomen using a Veress needle or the blind creation of the camera port at the beginning of the surgery. Here, we report an interesting case of an umbilical camera port abscess, probably resulting from an incidental puncture of the colon by a Veress needle during initial insufflation. A 61-year-old Taiwanese postmenopausal woman underwent laparoscopic surgery for bilateral adnexal solid masses, incidentally discovered during regular follow-up for B-cell lymphoma. Insufflation and trocar placement were uneventful, but over-distended colon was observed without an identifiable cause. Bilateral broad ligament myomas, enlarged right ovarian solid mass, and an atrophic left ovary were noted. Only a right salpingo-oophorectomy was performed, and final pathology revealed a benign Brenner's tumor. Postoperative fever and leukocytosis occurred but subsided spontaneously. However, the patient later experienced spiking fever and a significant abscess at the umbilical trocar site. The abscess culture confirmed the presence of enteric bacteria. Her condition improved with broad-spectrum antibiotic therapy and wound care. An incidental puncture of colon by a Veress needle can lead to over-distension of the colon and bacterial contamination of the umbilical port tract. Greater postoperative vigilance and timely antibiotic coverage may help prevent this rare complication.