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The selection of immune checkpoint inhibitors of programmed cell death (anti-PD-1) and its ligand (anti-PD-L1) makes matters more challenges for clinical practice 程序性细胞死亡免疫检查点抑制剂(抗-PD-1)及其配体(抗-PD-L1)的选择给临床实践带来了更多挑战
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.tjog.2024.05.004
Peng-Hui Wang, Szu-Ting Yang, Chia-Hao Liu
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引用次数: 0
Prenatal diagnosis and genetic counseling of 45,X/46,XX low-level mosaicism with a favorable outcome 45,X/46,XX 低水平嵌合的产前诊断和遗传咨询结果良好
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.tjog.2024.04.011
Xia Gao , Mingxia Xie , Echo Xu , Tou Tou , Fangfang Liu
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引用次数: 0
Achondrogenesis type 1B: The need for clinical vigilance in the first trimester fetus with cystic hygroma and micromelic limbs 软骨发育不全 1B 型:临床上需要警惕头三个月胎儿的囊性畸形和小畸形肢体
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.tjog.2023.12.003
Fang Chen , Dong-Zhi Li
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引用次数: 0
Reply to “optimal gestational weight gain in Taiwan: A retrospective cohort study” 对 "台湾最佳妊娠体重增加:一项回顾性队列研究"
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.tjog.2024.04.012
Fu-Ching Chuang, Hsin-Yin Huang, Yu-Hao Chen, Jian-Pei Huang
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引用次数: 0
Accuracy of expanded noninvasive prenatal testing for maternal copy number variations: A comparative study with CNV-seq of maternal lymphocyte DNA 扩大无创产前检测母体拷贝数变异的准确性:与母体淋巴细胞 DNA CNV-seq 的比较研究
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.tjog.2024.02.006
Honglei Duan , Wanjun Wang , Ying Zhang , Xuemei Chen , Zihan Jiang , Jie Li

Objective

To evaluate the accuracy of expanded noninvasive prenatal testing (NIPT) for maternal copy number variations.

Materials and methods

Expanded NIPT was used to detect CNVs ≥2 Mb at a whole-genome scale. The threshold of maternal deletion was copy numbers (CN) ≤ 1.6, and the threshold of maternal duplication was CN ≥ 2.4.

Results

Of the 5440 pregnant women with successful expanded NIPT results, 28 maternal CNVs ≥2 Mb were detected in 27 pregnant women. Except for five cases reported as test failure, 23 CNVs ≥2 Mb were confirmed among the remaining 22 pregnant women by CNV-seq of maternal lymphocyte DNA. The genomic location, copy numbers and fragment size of maternal CNVs reported by expanded NIPT were consistent with the results of CNV-seq of maternal lymphocyte DNA.

Conclusions

Maternal CNVs ≥2 Mb can be accurately evaluated according to the CN indicated by expanded NIPT results.

目的评估扩大无创产前检测(NIPT)检测母体拷贝数变异的准确性。材料与方法使用扩大无创产前检测在全基因组范围内检测≥2 Mb的CNV。结果在5440名成功获得扩增NIPT结果的孕妇中,有27名孕妇检测出28个母体拷贝数≥2 Mb的CNV。除 5 例检测失败的孕妇外,其余 22 例孕妇通过对母体淋巴细胞 DNA 进行 CNV-seq 分析,确认了 23 个≥2 Mb 的 CNV。扩增 NIPT 报告的母体 CNV 的基因组位置、拷贝数和片段大小与母体淋巴细胞 DNA 的 CNV-seq 结果一致。
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引用次数: 0
Application of array comparative genomic hybridization on the DNA extracted from cultured amniocytes for rapid diagnosis of 22q11.2 microdeletion in a pregnancy with a normal karyotype at amniocentesis and double outlet right ventricle and transposition of great arteries on level II ultrasound 应用阵列比较基因组杂交技术从培养的羊膜细胞中提取 DNA,快速诊断一名羊膜穿刺核型正常、II 级超声检查发现双出口右心室和大动脉转位的孕妇的 22q11.2 微缺失情况
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.tjog.2024.05.012
Chih-Ping Chen , Shin-Yu Lin , Ti-Jia Yuan
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引用次数: 0
Sentinel-lymph-node mapping in endometrial cancer: Tumor location matters? 子宫内膜癌的前哨淋巴结绘图:肿瘤位置很重要?
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.tjog.2024.05.003
Chia-Hao Liu, Szu-Ting Yang, Peng-Hui Wang
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引用次数: 0
Favorable breast cancer mortality-to-incidence ratios of countries with good human development index rankings and high health expenditures 人类发展指数排名靠前且卫生支出较高的国家的乳腺癌死亡率与发病率比率较高
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.tjog.2023.11.012
Chia-Yu Chou , Tzu-Tsen Shen , Wen-Ching Wang , Ming-Ping Wu

Objective

Breast cancer is the most frequently diagnosed cancer among women worldwide. Mortality-to-incidence ratio (MIR) is a marker that reflects the efficacy and availability of screening interventions and treatment outcomes. MIR can be used to influence public health strategy. The association between the MIRs for breast cancer among countries with different economic statuses and health expenditure is important yet has been investigated. This study was aimed to elucidate the association between the breast cancer MIRs and the human development and health expenditure among different countries.

Materials and methods

Cancer incidence and mortality rates were obtained from the GLOBOCAN database. The MIRs were calculated by dividing the crude rate of mortality to the incidence. Associations among the MIR and variants of human development index (HDI) and current health expenditure (CHE) in 50 countries were estimated via linear regression.

Results

Breast cancer had a higher incidence rate, but lower mortality rate, in developed countries (high HDI, CHE per capita, CHE/GDP), as compared with developing countries. Favorable MIRs were associated with a high HDI and high health expenditure countries (presented by high CHE per capita, and CHE/GDP) (both p < 0.001)

Conclusion

The MIR for breast cancer is reversely correlated with the development and healthcare disparities among different countries. This implies that allocating more resources to healthcare systems for breast cancer screening and treatment can improve disease outcomes. Our report may be helpful for public health policy making.

目标乳腺癌是全球妇女中最常确诊的癌症。死亡率与发病率之比(MIR)是反映筛查干预措施的有效性和可用性以及治疗效果的指标。死亡率与发病率比可用于影响公共卫生策略。不同经济状况的国家之间乳腺癌死亡率与发病率之间的关系和医疗支出之间的关系非常重要,但尚未进行过调查。本研究旨在阐明不同国家的乳腺癌中位数与人类发展和卫生支出之间的关联。通过将粗死亡率除以发病率计算出乳腺癌中位数。结果与发展中国家相比,发达国家(高人类发展指数、人均医疗支出、医疗支出/国内生产总值)的乳腺癌发病率较高,但死亡率较低。高人类发展指数和高医疗支出国家(表现为高人均医疗费用和高医疗费用/国内生产总值)与有利的乳腺癌发病率与死亡率中位数相关(均为 p < 0.001)。这意味着向医疗系统分配更多资源用于乳腺癌筛查和治疗可以改善疾病的预后。我们的报告可能有助于公共卫生政策的制定。
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引用次数: 0
Low-level mosaic trisomy 7 at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 7 cell line and a favorable fetal outcome 一名孕妇在羊膜腔穿刺时发现低水平镶嵌型 7 三体综合征,培养的羊膜细胞与未培养的羊膜细胞之间存在细胞遗传学差异,围产期 7 三体综合征细胞系逐渐减少,胎儿结局良好
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.tjog.2024.05.009
Chih-Ping Chen , Fang-Tzu Wu , Yen-Ting Pan , Peih-Shan Wu , Chien-Wen Yang , Chien-Ling Chiu , Wayseen Wang

Objective

We present low-level mosaic trisomy at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 7 cell line and a favorable fetal outcome.

Case Report

A 40-year-old, primigravid woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XY in cultured amniocytes. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr (7) × 2–3, (X,Y) × 1, consistent with 24% mosaicism for trisomy 7. Polymorphic DNA marker analysis on the DNA extracted from the uncultured amniocytes and parental bloods excluded uniparental disomy (UPD) 7. Prenatal ultrasound findings were normal. She was referred for genetic counseling at 19 weeks of gestation. No repeat amniocentesis was suggested, and continuing the pregnancy was advised. At 22 weeks of gestation, the result of soluble fms-like tyrosine kinase-1 (sFlt-1)/placental growth factor (PlGF) = 6.1 (normal < 38). She did not have preeclampsia. At 39 weeks of gestation, a 3346-g male baby was delivered without any phenotypic abnormality. aCGH analysis on the DNA extracted from cord blood and placenta revealed the result of arr (1–22) × 2, (X,Y) × 1 with no genomic imbalance in all tissues. When follow-up at age three months, the baby was normal in development and phenotype. The peripheral blood had a karyotype of 46,XY, and interphase fluorescence in situ hybridization (FISH) analysis using the bacterial artificial chromosome (BAC) probes of chromosome 7 showed disomy 7 cells in all 102/102 cells.

Conclusion

Low-level mosaic trisomy 7 at amniocentesis can be associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 7 cell line and a favorable fetal outcome.

病例报告 一位 40 岁的初产妇因高龄而在妊娠 16 周时接受了羊膜腔穿刺术。羊膜腔穿刺术发现培养羊膜细胞的核型为 46,XY。从未培殖羊膜细胞中提取的 DNA 同时进行阵列比较基因组杂交(aCGH)分析,结果显示为 arr (7) × 2-3、(X,Y) × 1,与 24% 的 7 三体嵌合一致。从未培殖羊膜细胞和父母血液中提取的 DNA 进行多态性 DNA 标记分析,排除了单亲裂殖症(UPD)7。产前超声检查结果正常。她在妊娠 19 周时被转介到遗传咨询中心。医生没有建议再次进行羊膜腔穿刺,而是建议继续妊娠。妊娠 22 周时,可溶性酪氨酸激酶-1(sFlt-1)/胎盘生长因子(PlGF)=6.1(正常值< 38)。她没有先兆子痫。对从脐带血和胎盘中提取的 DNA 进行 aCGH 分析,结果显示为 arr (1-22) ×2、(X,Y) ×1,所有组织中均无基因组失衡。三个月大时进行随访,婴儿的发育和表型均正常。外周血核型为 46,XY,使用 7 号染色体的细菌人工染色体(BAC)探针进行的间期荧光原位杂交(FISH)分析显示,102/102 个细胞中均存在 7 三体细胞。
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引用次数: 0
Arteriovenous malformation-related headache and seizures in pregnancy masquerading as eclampsia: A case report 妊娠期动静脉畸形相关头痛和癫痫发作伪装成子痫:病例报告
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.tjog.2023.09.026
Siou-Ting Lee , Yi-Liang Lee , Ya-Che Chen , Wei Lin , Ching-I Wu , Chi-Kang Lin

Objective

Cerebral arteriovenous malformation during pregnancy is rare but lethal disease that usually present with new-onset seizures and headaches mimicking eclampsia. We report a rare case of cerebral arteriovenous malformation with abrupt seizures in the third trimester.

Case Report

A 28-year-old primipara was brought to our emergency department at 32 6/7 weeks of gestation with new-onset acute seizures and hypertension. Owing to neurological deterioration, the patient underwent emergency cesarean delivery. However, 24 h after cesarean delivery and eclampsia treatment, the seizures worsened. Computed tomography and magnetic resonance imaging showed unruptured arteriovenous malformation of the right frontal lobe. Subsequently, intraarterial embolization was performed. The patient was discharged 5 days after surgery without neurological sequelae or obstetric complications.

Conclusion

This case report highlights the differential diagnoses of sudden new-onset seizures in late pregnancy for obstetricians and emergency medicine physicians. Lethal cerebral diseases, apart from eclampsia, should be considered during pregnancy.

目的妊娠期脑动静脉畸形是一种罕见但致命的疾病,通常表现为模仿子痫的新发癫痫发作和头痛。我们报告了一例罕见的脑动静脉畸形病例,患者在妊娠三个月时突然出现癫痫发作。病例报告一名 28 岁的初产妇在妊娠 32 6/7 周时因新发急性癫痫发作和高血压被送到我院急诊科。由于神经系统恶化,患者接受了紧急剖宫产。然而,在剖宫产和子痫治疗 24 小时后,癫痫发作加剧。计算机断层扫描和磁共振成像显示右额叶动静脉畸形未破裂。随后,进行了动脉内栓塞术。本病例报告强调了产科医生和急诊科医生对妊娠晚期突然新发癫痫发作的鉴别诊断。除子痫外,在妊娠期间还应考虑致命的脑部疾病。
{"title":"Arteriovenous malformation-related headache and seizures in pregnancy masquerading as eclampsia: A case report","authors":"Siou-Ting Lee ,&nbsp;Yi-Liang Lee ,&nbsp;Ya-Che Chen ,&nbsp;Wei Lin ,&nbsp;Ching-I Wu ,&nbsp;Chi-Kang Lin","doi":"10.1016/j.tjog.2023.09.026","DOIUrl":"https://doi.org/10.1016/j.tjog.2023.09.026","url":null,"abstract":"<div><h3>Objective</h3><p>Cerebral arteriovenous malformation during pregnancy is rare but lethal disease that usually present with new-onset seizures and headaches mimicking eclampsia. We report a rare case of cerebral arteriovenous malformation with abrupt seizures in the third trimester.</p></div><div><h3>Case Report</h3><p>A 28-year-old primipara was brought to our emergency department at 32 6/7 weeks of gestation with new-onset acute seizures and hypertension. Owing to neurological deterioration, the patient underwent emergency cesarean delivery. However, 24 h after cesarean delivery and eclampsia treatment, the seizures worsened. Computed tomography and magnetic resonance imaging showed unruptured arteriovenous malformation of the right frontal lobe. Subsequently, intraarterial embolization was performed. The patient was discharged 5 days after surgery without neurological sequelae or obstetric complications.</p></div><div><h3>Conclusion</h3><p>This case report highlights the differential diagnoses of sudden new-onset seizures in late pregnancy for obstetricians and emergency medicine physicians. Lethal cerebral diseases, apart from eclampsia, should be considered during pregnancy.</p></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1028455924001359/pdfft?md5=ca45806bf616eb0df4c7d55a0450e55e&pid=1-s2.0-S1028455924001359-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141605214","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
期刊
Taiwanese Journal of Obstetrics & Gynecology
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