{"title":"Prenatal diagnosis of a familial 15q13.1q13.2 microdeletion encompassing APBA2, ENTREP2, NSMCE3 and TJP1 without apparently phenotypic abnormality in the neonate and the family carrier members in three generations","authors":"Chih-Ping Chen","doi":"10.1016/j.tjog.2026.01.015","DOIUrl":"10.1016/j.tjog.2026.01.015","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"65 2","pages":"Pages 378-379"},"PeriodicalIF":2.2,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147394987","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"High-level mosaicism for 45,X in 45,X/46,X,idic(Y)(q11.2) at amniocentesis in a pregnancy with a favorable fetal outcome and postnatal progressive decrease of the 45,X cell line","authors":"Chih-Ping Chen","doi":"10.1016/j.tjog.2026.01.017","DOIUrl":"10.1016/j.tjog.2026.01.017","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"65 2","pages":"Pages 382-384"},"PeriodicalIF":2.2,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147394988","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Identification of novel molecular subtypes of endometrial cancer based on neutrophil-related genes to assess prognosis and immune landscape","authors":"Hui Liu, Dezhi Li","doi":"10.1016/j.tjog.2025.09.025","DOIUrl":"10.1016/j.tjog.2025.09.025","url":null,"abstract":"<div><h3>Objective</h3><div>Endometrial cancer (EC) exhibits significant heterogeneity in clinical outcomes, and neutrophils are increasingly implicated in its progression and the tumor microenvironment. The objective of this research was to discover neutrophil-associated genes in EC and construct a prognostic model along with biologically distinct molecular subtypes.</div></div><div><h3>Materials and methods</h3><div>Data on clinical features and gene expression obtained from the Cancer Genome Atlas (TCGA) were subjected to analysis. To identify prognostic markers, we applied univariate Cox regression combined with several machine learning approaches, including least absolute shrinkage and selection operator (LASSO) regression, Random Forest (RF), and extreme gradient boosting (XGBoost), to screen for prognostic neutrophil-related genes. To classify molecular subtypes, we applied non-negative matrix factorization (NMF) on the gene expression data. Using the selected genes, a risk score model was formulated. We established a nomogram for predicting the clinical outcome of EC. Validation of the model was carried out on datasets from internal and external sources. We characterized the risk groups and molecular subtypes using CIBERSORT, ESTIMATE, and Single Sample Gene Set Enrichment Analysis (ssGSEA) algorithms to investigate immune cell infiltration along with immune-related functional pathways. Additionally, we investigated the potential responsiveness to drugs linked to the identified genes and risk categories.</div></div><div><h3>Results</h3><div>We identified four key neutrophil-related genes, including LEF1, GHH, CCL22, and PLA2G2A, which constitute a robust prognostic biomarker set for EC. Based on these genes, the risk score distinguished patients into distinct high- and low-risk categories with markedly different overall survival outcomes. Furthermore, NMF analysis revealed two distinct molecular subtypes based on these four genes, which displayed significant differences in prognosis and were characterized by unique infiltration of immune cells and expression levels of immune checkpoints. We also observed associations between the risk groups and potential drug sensitivities.</div></div><div><h3>Conclusion</h3><div>In this research, we discovered a novel prognostic signature comprising four genes and classified EC into two distinct molecular subtypes driven by neutrophil-associated genes. These results enhance our understanding of EC's prognostic profile and its immune microenvironment, which may facilitate improved risk stratification and guide the design of personalized treatment approaches.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"65 2","pages":"Pages 279-291"},"PeriodicalIF":2.2,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147419996","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Comment on “Dienogest treatment in women with endometriosis: A retrospective cohort study in Taiwan”","authors":"Peng-Hsuan Huang","doi":"10.1016/j.tjog.2025.10.007","DOIUrl":"10.1016/j.tjog.2025.10.007","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"65 2","pages":"Page 395"},"PeriodicalIF":2.2,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147419506","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Sarcopenia in patients with endometrial cancer treated with chemotherapy is correlated with febrile neutropenia","authors":"Eun Hye Cho , Dae Hoon Jeong","doi":"10.1016/j.tjog.2025.05.024","DOIUrl":"10.1016/j.tjog.2025.05.024","url":null,"abstract":"<div><h3>Objective</h3><div>Sarcopenia, characterized by reduced skeletal muscle mass, may impact chemotherapy tolerance and outcomes in cancer patients. In this study we aimed to investigate the correlation of sarcopenia with chemotherapy-related complications and oncological outcomes in patients with endometrial cancer.</div></div><div><h3>Materials and methods</h3><div>We retrospectively collected data from the electronic medical records of patients who underwent chemotherapy from January 2015 to August 2021. We measured the L3 vertebral skeletal muscle index (L3SMI), using the abdominopelvic computerized tomography and sarcopenia was defined as an L3SMI of <41 cm<sup>2</sup>/m<sup>2</sup>. We collected clinicopathological data and demographic information. We also assessed chemotherapy-related hematologic complications and oncologic outcomes between the groups.</div></div><div><h3>Results</h3><div>A total of 117 patients underwent chemotherapy at our hospital, and 97 patients were included in our study (n = 28 and 69 patients in the sarcopenia and non-sarcopenia groups, respectively). The body mass index of patients in the sarcopenia group was lower than that of patients in the non-sarcopenia group (22.55 ± 2.38 vs. 26.85 ± 4.52 kg/m<sup>2</sup>, P < 0.0001). The prevalence of febrile neutropenia in the sarcopenia group was higher than that in the non-sarcopenia group (42.9 % vs. 18.8 %, P = 0.0148). However, oncological outcomes, such as recurrence rate and prevalence of anemia after the first chemotherapy, were not associated with sarcopenia.</div></div><div><h3>Conclusions</h3><div>Patients with endometrial cancer and sarcopenia who underwent chemotherapy showed increased chemotherapy-related complications, such as febrile neutropenia. These findings suggest the need for close monitoring of sarcopenic patients and consideration of prophylactic measures, such as granulocyte-colony stimulating factor administration.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"65 2","pages":"Pages 241-246"},"PeriodicalIF":2.2,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147419507","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Low-level mosaic trisomy 13 at amniocentesis in a pregnancy associated with a favorable fetal outcome and a normal karyotype and no genomic imbalance in buccal mucosal cells at age five months in the neonate","authors":"Chih-Ping Chen","doi":"10.1016/j.tjog.2025.12.010","DOIUrl":"10.1016/j.tjog.2025.12.010","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"65 2","pages":"Pages 357-359"},"PeriodicalIF":2.2,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147419861","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Follow-up of a 7-year-and-3-month-old girl with a prenatal history of mosaic trisomy 17 at amniocentesis and no apparently phenotypic abnormality","authors":"Chih-Ping Chen","doi":"10.1016/j.tjog.2026.01.011","DOIUrl":"10.1016/j.tjog.2026.01.011","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"65 2","pages":"Pages 366-367"},"PeriodicalIF":2.2,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147419864","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"From Treg, FOXP3 to RBPJ: Linking basic science and clinical medicine","authors":"Lung-Fang Chen , Chung-Jen Chen","doi":"10.1016/j.tjog.2026.01.019","DOIUrl":"10.1016/j.tjog.2026.01.019","url":null,"abstract":"<div><div>The discovery of regulatory T cells (Treg) and Forkhead box protein P3 (FOXP3) gene has unraveled a new venue toward understanding peripheral tolerance and facilitates the development of Treg-based therapy. In this brief review, we introduced the history of discovering Treg and FOXP3, followed by clinical investigations about Treg in several autoimmune diseases, including systemic lupus erythematosus (SLE), ulcerative colitis (UC), and graft-versus-host disease (GVHD). Importantly, Treg abnormality is also found to contribute substantially to recurrent pregnancy loss, repeated implantation failure and preterm birth. We also discussed the role of Epigallocatechin gallate (EGCG) from green tea on Treg's action. Finally, the recent discovery of FOXP3 regulations in the <em>in vitro</em>-induced Tregs (iTreg) by the recombination signal binding protein for Immunoglobulin Kappa J region (RBPJ) gene would be addressed in the context of existing knowledge. In summary, Treg-based therapy can hold significant therapeutic potential for autoimmune diseases, GVHD, recurrent pregnancy loss and repeated implantation failure in the future.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"65 2","pages":"Pages 207-211"},"PeriodicalIF":2.2,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147419302","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Clinical significance of low-frequency mosaic thresholds (45,X/46,XX/47,XXX) in adulthood: A case report","authors":"Keiko Goto-Hirano , Yuri Kitamura , Yoshiteru Arai , Masaki Nishioka , Hiroyuki Harada , Shino Shimada , Ayumi Abe , Eri Shimizu , Masami Arai","doi":"10.1016/j.tjog.2025.11.022","DOIUrl":"10.1016/j.tjog.2025.11.022","url":null,"abstract":"<div><h3>Objective</h3><div>We present a distinction between age-related X chromosome loss and true mosaicism in women over 50 years of age and the clinical course in adulthood due to the low frequency of X chromosome dual aneuploidy.</div></div><div><h3>Case report</h3><div>Clinical reports of adult women with the 45,X/46,XX/47,XXX karyotype are extremely rare. In a 51-year-old woman with short stature and schizophrenia with secondary amenorrhea shortly after the onset of her early menstrual period, the proportion of 45,X cell lines was 10 % by G-band and fluorescence in situ hybridization in the peripheral blood. The presence of 45,X in buccal mucosa cells and 47,XXX in peripheral blood suggests true mosaicism due to non-segregation in the early embryo rather than age-related X chromosome loss.</div></div><div><h3>Conclusion</h3><div>This case supports the recent reports that a possible phenotypic effect exists at a 45,X cell threshold of 5 %.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"65 2","pages":"Pages 338-342"},"PeriodicalIF":2.2,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147419868","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}