Taiwanese Journal of Obstetrics & Gynecology最新文献

{"title":"A prenatally diagnosed Klinefelter syndrome case of 46,XX/47,XXY mosaicism with partial deletion of Y chromosome","authors":"Haruna Okubo ,&nbsp;Yuki Ito ,&nbsp;Tomoko Kawai ,&nbsp;Hiromi Kamura ,&nbsp;Michihiro Yamamura ,&nbsp;Mikiko Kaneko ,&nbsp;Akihiro Hasegawa ,&nbsp;Ken Takahashi ,&nbsp;Masahisa Kobayashi ,&nbsp;Hiroshi Kawame ,&nbsp;Kenichiro Hata ,&nbsp;Osamu Samura ,&nbsp;Aikou Okamoto","doi":"10.1016/j.tjog.2024.12.030","DOIUrl":"10.1016/j.tjog.2024.12.030","url":null,"abstract":"<div><h3>Objective</h3><div>Herein, we report the first case of 46,XX/47,XXY mosaicism with a partially deleted Y chromosome.</div></div><div><h3>Case report</h3><div>Chorionic villus sampling (CVS; G-banding) was performed due to increased nuchal translucency; the results showed a 46,XX karyotype. However, ultrasonography revealed male-type external genitalia. The stored CVS nuclear plate was reanalyzed to investigate the cause of the fetal sex discordance. The result showed a mosaic of a small supernumerary marker chromosome (sSMC) derived from Y chromosome. The infant was delivered vaginally at 39 weeks. Peripheral blood G-banding and fluorescence <em>in situ</em> hybridization for the infant indicated 47,XX, +mar [27]/46,XX [3] ish der(Y) (SRY+,DYZ1-). Single nucleotide polymorphism analysis of cord blood and chorionic villi revealed a deletion in chrY: 13,133,449–28,817,579. The infant was phenotypically male, with good growth and development at 24 months.</div></div><div><h3>Conclusion</h3><div>The fetal sex discordance led to a diagnosis of 46,XX/47,XXY mosaicism, which could guide postnatal management.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 4","pages":"Pages 707-710"},"PeriodicalIF":2.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144518503","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":"Obstetric and neonatal outcomes in pregnant women with left-sided valvular stenosis in a tertiary medical center in Taiwan","authors":"Hui-Ling Lee ,&nbsp;Hao-Tien Liu ,&nbsp;Chi-Yuan Chiang ,&nbsp;Shih-Chun Chou ,&nbsp;Chung-Chuan Chou","doi":"10.1016/j.tjog.2024.10.023","DOIUrl":"10.1016/j.tjog.2024.10.023","url":null,"abstract":"<div><h3>Objective</h3><div>Left-sided valvular stenosis increases pregnancy-associated risks. We aim to compare maternal and neonatal outcomes between women with left-sided valvular stenosis and controls and to determine the predictors of adverse pregnancy outcomes.</div></div><div><h3>Materials and methods</h3><div>We retrospectively retrieved data in the Chang Gung Research Database from women who had at least one prenatal examination record or pregnancy-related diagnosis code and gave birth, terminated the pregnancy, or took abortion pills in the hospital and had confirmed aortic stenosis or mitral stenosis based on echocardiographic reports, surgical reports, and discharge summaries. Propensity score matching (PSM) was used to balance covariates between the left-sided valvular stenosis and control groups.</div></div><div><h3>Results</h3><div>Patients in the left-sided valvular stenosis group were of shorter height, lower weight and body mass index, and had a higher rate of atrial fibrillation compared to controls. After PSM, the left-sided valvular stenosis group (n = 52) had more heart failure, chronic kidney disease, and use of digoxin and anticoagulants than did the control group (n = 260). Pregnancy outcomes in the left-sided valvular stenosis group included a higher cesarean section rate, lower gestational age, and a higher rate of newborn intensive care unit transfer than controls. The composite adverse maternal event rate did not differ significantly between the two groups, but the composite adverse neonatal event rate (premature birth, low birth weight) was higher in the left-sided valvular stenosis group. Regional anesthesia was most commonly used during cesarean section in both groups. Left-sided valvular stenosis, heart failure, general anesthesia, and cesarean section were significant factors associated with increased risks of composite adverse neonatal events.</div></div><div><h3>Conclusions</h3><div>Among pregnant women, those with left-sided valvular stenosis had more comorbidities and medication use during pregnancy and were more likely to give birth to premature babies with low birth weight and poor vitality.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 4","pages":"Pages 655-661"},"PeriodicalIF":2.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144518495","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":"The first report of a successful birth by preimplantation genetic testing for leukodystrophy induced by IBA57 gene","authors":"Juan Wang ,&nbsp;Zuying Xu ,&nbsp;Dawei Chen ,&nbsp;Huifen Xiang","doi":"10.1016/j.tjog.2025.01.007","DOIUrl":"10.1016/j.tjog.2025.01.007","url":null,"abstract":"<div><h3>Objective</h3><div>Leukodystrophies are a group of heterogeneous disorders affecting the white matter, resulting from various genetic defects. Multiple recessive mutations in the IBA57 gene, which codes for a protein involved in the final stages of the mitochondrial Fe/S biogenesis pathway, have been linked to the development of leukodystrophy.</div></div><div><h3>Case report</h3><div>In this study, we first report the identification of a compound heterozygous mutation in the IBA57 gene, with one mutation (c.286T &gt; C) inherited from the father and another mutation (c.697C &gt; T) inherited from the mother, who has previously given birth to two children with leukodystrophy. Through preimplantation genetic testing (PGT-M), one successful intrauterine pregnancy was achieved, resulting in the delivery of a healthy male infant at 38 + 3 weeks of gestation.</div></div><div><h3>Conclusion</h3><div>This study confirms the significant role of IBA57 in leukoencephalopathy and provides valuable insights for molecular diagnosis and genetic counseling related to IBA57-related disorders.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 4","pages":"Pages 700-702"},"PeriodicalIF":2.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144518498","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":"Locally advanced cervical cancer treatment: Immunotherapy or induction dose-dense chemotherapy?","authors":"Peng-Hui Wang,&nbsp;Wei-Ting Chao,&nbsp;Tsung-Cheng Kuo","doi":"10.1016/j.tjog.2025.05.014","DOIUrl":"10.1016/j.tjog.2025.05.014","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 4","pages":"Pages 605-607"},"PeriodicalIF":2.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144518674","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":"The decision for adjuvant therapy for early-stage high-risk endometrial cancer is in dilemma","authors":"Peng-Hui Wang,&nbsp;Yoichi Kobayashi,&nbsp;Byoung-Gie Kim","doi":"10.1016/j.tjog.2025.05.012","DOIUrl":"10.1016/j.tjog.2025.05.012","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 4","pages":"Pages 599-601"},"PeriodicalIF":2.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144518683","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":"Prenatal diagnosis of a de novo 16p11.2 microduplication of 16p11.2 BP4-5 copy number variants in a fetus with apparently normal phenotype","authors":"Chih-Ping Chen","doi":"10.1016/j.tjog.2025.03.004","DOIUrl":"10.1016/j.tjog.2025.03.004","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 3","pages":"Pages 540-541"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143936149","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":"Comments on “The timing for embryo transfer after antibiotic therapy for chronic endometritis”","authors":"Zhe Gao,&nbsp;Juan Du","doi":"10.1016/j.tjog.2024.12.028","DOIUrl":"10.1016/j.tjog.2024.12.028","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 3","pages":"Page 580"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143935093","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":"Exploration of immune-related diagnostic biomarkers in unexplained infertility by bioinformatics analysis and machine learning","authors":"Ran Ma ,&nbsp;Jituan Qin ,&nbsp;Sugai Wang ,&nbsp;Sufen Guan ,&nbsp;Fangjuan Jia ,&nbsp;YingYing Deng ,&nbsp;Jing Bai ,&nbsp;Saili Wang","doi":"10.1016/j.tjog.2025.01.004","DOIUrl":"10.1016/j.tjog.2025.01.004","url":null,"abstract":"<div><h3>Objective</h3><div>We aimed to discover the biomarkers associated with UI and their correlation with immune cell infiltration.</div></div><div><h3>Materials and methods</h3><div>The GSE165004 data set was extracted from the Gene Expression Omnibus and IRGs were obtained from Immport and InnateDB databases. Differential expression analysis, WGCNA, and three machine learning algorithms (LASSO, SVM, and random forest) were used to determine the immune-related hub biomarkers for UI. The diagnostic performance of these markers was evaluated in GSE165004 and validation set (GSE16532). Furthermore, single-sample GSEA was employed to analyze the infiltration level of immune cells and Spearman analysis was conducted to assess the correlation between biomarker and immune cells. The functional enrichment and potential drugs for each biomarker were explored. The biomarker genes were validated in clinical samples by real time PCR assay.</div></div><div><h3>Results</h3><div>Six shared genes (ANXA2, CD300E, IL27RA, SEMA3F, GIPR, and WFDC2) were identified as diagnostic biomarkers by integration analysis. ROC analysis revealed that these markers had diagnostic value for UI both in training and validation sets. Moreover, these biomarkers are closely associated with immune cells, such as natural killer T cells and effector memory CD8 T cells. GSEA analysis showed that these genes were mainly involved in chromosome and mitochondria-related biological functions. Drug prediction indicated that all genes targeted Benzo(a)pyrene. All the biomarker genes, expect for GIPR were differentially expressed in endometrium tissues of UI patients, compared with controls.</div></div><div><h3>Conclusion</h3><div>This study identified immune-related diagnostic biomarkers in UI, providing new insights into understanding the molecular mechanisms and therapeutic targets of UI.</div></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 3","pages":"Pages 438-449"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143936565","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":"Uterine artery blockage","authors":"I-Gung Li,&nbsp;Hung-Hsien Liu,&nbsp;Peng-Hui Wang","doi":"10.1016/j.tjog.2024.03.031","DOIUrl":"10.1016/j.tjog.2024.03.031","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 3","pages":"Pages 399-401"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143936594","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":"The frontiers in gynecologic cancer management: Exploring the new hope to manage women with endometrial cancer by immunochemotherapy","authors":"Peng-Hui Wang ,&nbsp;Szu-Ting Yang ,&nbsp;Byoung-Gie Kim","doi":"10.1016/j.tjog.2025.03.001","DOIUrl":"10.1016/j.tjog.2025.03.001","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"64 3","pages":"Pages 404-406"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143936596","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}