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Unlock the future of minimally invasive therapy after six decades 六十年后,开启微创疗法的未来
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2024-09-01 DOI: 10.1016/j.tjog.2024.06.001
Chyi-Long Lee
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引用次数: 0
Perinatal lethal form Gaucher disease with compound heterozygosity of single nucleotide variants and copy number variations presenting as nonimmune hydrops fetalis and cerebellar hypoplasia: A case report 以非免疫性胎儿水肿和小脑发育不全为表现的单核苷酸变异和拷贝数变异复合杂合型围产期致死型戈谢病:病例报告
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2024-09-01 DOI: 10.1016/j.tjog.2024.03.022
Chin-Chieh Hsu , Ni-Chung Lee , Yin-Hsiu Chien , Chao-Fan Liu , Yao-Lung Chang

Objective

To present the ultrasound imaging and genetic diagnosis of a fetus with prenatal lethal form of Gaucher disease.

Case report

A 37-year-old primiparous woman was pregnant at her 23 weeks of gestation and the prenatal fetal ultrasound revealed hydrops fetalis, cerebellum hypoplasia, and fetal immobility. The pregnancy was terminated due to major fetal anomaly, and whole exome sequencing (WES) analysis of fetal tissue and parental blood unveiled a pathogenic variant in exon 10 of the GBA gene (NM_001005741.3: c.1265T > G: p.L422R) originating from the mother. Additionally, a novel CNV (chr1: 155204785–155205635 deletion, 0.85 kb) spanning exon 10–12 in the GBA gene was identified from the father. This compound heterozygosity confirmed the diagnosis of prenatal lethal form of Gaucher disease and was informative for genetic counseling.

Conclusion

WES is a powerful tool to detect pathogenic variants among fetuses with nonimmune hydrops fetalis and complex abnormality from prenatal ultrasound. Compound heterozygosity consisted of single nucleotide variants (SNV) and copy number variations (CNVs) may lead rare inherited metabolic disorders including prenatal lethal form of Gaucher disease.

病例报告 一位37岁的初产妇在妊娠23周时怀孕,产前胎儿超声检查发现胎儿水肿、小脑发育不良和胎儿不活动。胎儿组织和父母血液的全外显子组测序(WES)分析揭示了 GBA 基因第 10 外显子的致病变异(NM_001005741.3:c.1265T > G:p.L422R)来自母亲。此外,还发现了一个新的 CNV(chr1: 155204785-155205635 缺失,0.85 kb),横跨 GBA 基因的第 10-12 号外显子。这一复合杂合子确诊为产前致死型戈谢病,并为遗传咨询提供了信息。由单核苷酸变异(SNV)和拷贝数变异(CNV)组成的复合杂合性可能会导致罕见的遗传代谢性疾病,包括产前致死型戈谢病。
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引用次数: 0
Molecular cytogenetic analysis of mosaic 45,X/46,X,r(X) at amniocentesis in a fetus with hydrops fetalis 对一名患有胎儿水肿症的胎儿进行羊膜穿刺时发现的马赛克 45,X/46,X,r(X)的分子细胞遗传学分析
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2024-09-01 DOI: 10.1016/j.tjog.2024.07.009
Chih-Ping Chen
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引用次数: 0
Unraveling fetal venous disorders: An integrated approach in fetal echocardiography and their clinical significance 解读胎儿静脉疾病:胎儿超声心动图的综合方法及其临床意义
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2024-09-01 DOI: 10.1016/j.tjog.2024.03.021
Wei-Hsiang Tseng , Hsi-Chu Lai , Li-Ling Lin , Shen-Ling Jan , Hsien-Wen Peng , Jenn-Jhy Tseng

Objective

Fetal venous system malformations frequently coincide with cardiac or extracardiac anomalies. This study explores our experience with an integrated fetal echocardiography approach and analyzes the characteristics and outcomes of fetal venous system disorders.

Materials and methods

We conducted a retrospective study with 7048 pregnant women (7255 fetuses) who underwent complete two-dimensional (2D) fetal echocardiographic examinations. We primarily employed an integrated 2D approach. Three-/four-dimensional (3D/4D) spatiotemporal image correlation was supplemental. Fetal venous disorders were classified into 3 groups: cardinal (Group 1), umbilical and vitelline (Group 2), and pulmonary (Group 3) systems, based on embryological-anatomical considerations. Maternofetal data were recorded alongside imaging diagnoses.

Results

Congenital venous malformations were identified in 98 fetuses, yielding a prevalence of 1.35% (98/7255). Six participants had coexisting venous disorders from different groups. Group 1 included 48 fetuses with persistent left superior vena cava (LSVC) and 3 others (unidentified brachiocephalic vein, left inferior vena cava (IVC), and interrupted IVC with azygous continuation to SVC). Group 2 had 39 fetuses with persistent right umbilical vein and 7 with umbilical-portal-ductus venosus disorders. Group 3 had 7 fetuses with pulmonary venous return disorders. Group 2 showed the most favorable outcomes (alive and without neonatal death), while Group 3 exhibited the poorest. Associated cardiac defects were observed in 43.1% of Group 1, 8.7% of Group 2, and 57.1% of Group 3 (P < 0.001), displaying a broad spectrum of non-specific anomalies. Meanwhile, Group 2 had a greater occurrence of a single venous disorder (93.5%) compared to Group 1 (88.2%) and Group 3 (57.1%) (P = 0.020).

Conclusion

Our approach offers an integrated strategy for assessing the fetal venous system during fetal echocardiography, providing multiple views to characterize venous anomalies. The presence of a fetal venous disorder may indicate the coexistence of more severe abnormalities, and the prognosis depends on associated anomalies or the venous disorders per se.

目的胎儿静脉系统畸形经常与心脏或心脏外畸形同时发生。本研究探讨了我们采用综合胎儿超声心动图方法的经验,并分析了胎儿静脉系统畸形的特点和结局。材料与方法 我们对 7048 名孕妇(7255 个胎儿)进行了回顾性研究,她们均接受了完整的二维(2D)胎儿超声心动图检查。我们主要采用综合二维方法。三维/四维(3D/4D)时空图像相关性作为补充。根据胚胎解剖学的考虑,胎儿静脉疾病被分为三组:贲门系统(第 1 组)、脐静脉和玻璃体系统(第 2 组)以及肺动脉系统(第 3 组)。结果在 98 个胎儿中发现了先天性静脉畸形,发病率为 1.35%(98/7255)。六名参与者同时患有不同组别的静脉疾病。第一组包括 48 个患有持续性左上腔静脉(LSVC)的胎儿和其他 3 个胎儿(不明肱静脉、左下腔静脉(IVC)和中断的 IVC,但有连接至 SVC 的zygous)。第 2 组有 39 个胎儿患有持续性右脐静脉疾病,7 个胎儿患有脐-门-导静脉疾病。第 3 组有 7 个胎儿患有肺静脉回流障碍。第 2 组胎儿的预后最好(存活且无新生儿死亡),而第 3 组胎儿的预后最差。第 1 组中有 43.1%、第 2 组中有 8.7%、第 3 组中有 57.1%(P< 0.001)的胎儿伴有心脏缺陷,显示出广泛的非特异性异常。同时,与第一组(88.2%)和第三组(57.1%)相比,第二组出现单一静脉疾病的比例更高(93.5%)(P = 0.020)。胎儿静脉畸形可能预示着同时存在更严重的畸形,而预后则取决于相关畸形或静脉畸形本身。
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引用次数: 0
Clinical and genetic analysis of two phenotypically normal families carrying 4p16.1 microduplications 两个携带 4p16.1 微重复的表型正常家庭的临床和遗传分析
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2024-09-01 DOI: 10.1016/j.tjog.2023.12.004
Xiaolin Wang , Yujiao Wang , Xinqiang Lan

Objective

To help determine the pathogenicity of 4p16.1 microduplications, we reported two asymptomatic families carrying this variation.

Case report

We present the prenatal diagnosis and genetic analysis of two normal families with 4p16.1 microduplications.

Conclusion

This paper highlights two families with clinically asymptomatic 4p16.1 microduplications that assisted in determining the pathogenicity of this fragment. The findings can be used as a reference for genetic counseling in cases of similar abnormalities encountered during future prenatal diagnosis.

目的为了帮助确定 4p16.1 微重复的致病性,我们报告了两个携带该变异的无症状家系。病例报告我们介绍了两个患有 4p16.1 微重复的正常家系的产前诊断和遗传分析。这些研究结果可作为今后产前诊断中遇到类似异常情况时遗传咨询的参考。
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引用次数: 0
A nomogram to predict platinum-sensitivity and survival outcome in women with advanced epithelial ovarian cancer 预测晚期上皮性卵巢癌妇女铂敏感性和生存结果的提名图
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2024-09-01 DOI: 10.1016/j.tjog.2024.05.022
Tsung-Hsin Yeh , Chen-Hsuan Wu , Yu-Che Ou , Hung-Chun Fu , Hao Lin

Objective

This study presents the development and validation of a nomogram aimed at predicting platinum-sensitivity and survival outcomes in women with advanced epithelial ovarian cancer (EOC).

Materials and methods

Data from a retrospective cohort of women diagnosed with stage III/IV EOC between Jan 2011 and Dec 2021 treated at our institute were collected. Clinical and pathological characteristics were analyzed using logistic regression analysis to identify independent predictors of platinum-sensitivity. Impact on progression-free (PFS) and overall survival (OS) was determined by Kaplan–Meier and Cox regression analysis. A nomogram was constructed based on the significant predictors, and its performance was evaluated using calibration, discrimination, and validation analyses.

Results

Of the 210 patients, 139 (66.19%) had platinum-sensitive and 71 (33.81%) were platinum-resistant disease. On multivariate analysis, platinum-resistance correlated with neoadjuvant chemotherapy (OR 2.15; 95% CI 1.10–4.21), clear cell/mucinous histology (OR 5.04; 95% CI 2.20–11.54), and sub-optimal debulking status (OR 3.37; 95% CI 1.44–7.91). Median PFS and OS were also significantly shorter for patients with neoadjuvant chemotherapy (23 vs. 10 months and 69 vs. 29 months, respectively), clear cell/mucinous histology (15 vs. 3 months and 63 vs. 11 months, respectively), and suboptimal debulking (26 vs. 5 months and 78 vs. 24 months, respectively). The nomogram demonstrated good predictive accuracy for platinum-sensitivity in the cohort as indicated by high concordance index of 0.745. Calibration plots showed excellent agreement and internal validation further confirmed the reliability of the nomogram's performance.

Conclusion

A novel predictive nomogram based on type of initial treatment, histology, and debulking status was developed, which provides a friendly and reliable tool for predicting platinum-sensitivity and survival outcomes in women with advanced EOC. Its application may assist clinicians in individualizing treatment decisions.

材料和方法收集了2011年1月至2021年12月在我院接受治疗的III/IV期EOC女性患者的回顾性队列数据。采用逻辑回归分析法对临床和病理特征进行分析,以确定铂敏感性的独立预测因素。对无进展生存期(PFS)和总生存期(OS)的影响则通过卡普兰-梅耶(Kaplan-Meier)和考克斯回归分析来确定。结果 在 210 例患者中,139 例(66.19%)对铂敏感,71 例(33.81%)对铂耐药。在多变量分析中,铂耐药与新辅助化疗(OR 2.15;95% CI 1.10-4.21)、透明细胞/粘液组织学(OR 5.04;95% CI 2.20-11.54)和未达到最佳剥离状态(OR 3.37;95% CI 1.44-7.91)相关。接受新辅助化疗(分别为23个月对10个月和69个月对29个月)、透明细胞/黏液组织学(分别为15个月对3个月和63个月对11个月)和未达最佳剥除状态(分别为26个月对5个月和78个月对24个月)的患者的中位生存期和手术期也明显较短。队列中的提名图对铂敏感性具有良好的预测准确性,其一致性指数高达 0.745。结论 基于初始治疗类型、组织学和去势状态开发的新型预测提名图为预测晚期 EOC 女性患者的铂敏感性和生存结果提供了一种友好可靠的工具。它的应用可帮助临床医生做出个性化的治疗决定。
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引用次数: 0
Complete cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes is common in mosaic trisomy 20 at amniocentesis with positive conventional cytogenetic analysis and negative chromosomal microarray analysis 在常规细胞遗传学分析呈阳性、染色体芯片分析呈阴性的羊膜穿刺术中,培养羊膜细胞和未培养羊膜细胞之间的完全细胞遗传学差异在嵌合型 20 三体综合征中很常见
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2024-09-01 DOI: 10.1016/j.tjog.2024.07.010
Chih-Ping Chen
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引用次数: 0
“The role of probiotics in women's health: An update narrative review.” "益生菌在女性健康中的作用:最新叙述性综述"。
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2024-09-01 DOI: 10.1016/j.tjog.2024.05.024
Horng-Jyh Tsai
{"title":"“The role of probiotics in women's health: An update narrative review.”","authors":"Horng-Jyh Tsai","doi":"10.1016/j.tjog.2024.05.024","DOIUrl":"10.1016/j.tjog.2024.05.024","url":null,"abstract":"","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"63 5","pages":"Page 799"},"PeriodicalIF":2.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1028455924002018/pdfft?md5=24d89683c46635051657ccc472c6bfab&pid=1-s2.0-S1028455924002018-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142163961","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
Common on “craniorachischisis in a stillbirth associated with maternal smoking” 关于 "与产妇吸烟有关的死胎中的颅膈裂伤 "的常见问题
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2024-09-01 DOI: 10.1016/j.tjog.2024.06.007
Fenglin Jiang
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引用次数: 0
Prenatal diagnosis and outcome of congenital dacryocystoceles 先天性泪囊畸形的产前诊断和结果
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2024-09-01 DOI: 10.1016/j.tjog.2024.04.015
Veronika Frisova , Michaela Kranerova , Jan Mikulec

Objective

To determine the incidence and present our experience with prenatal diagnosis and postnatal outcome of dacryocystocele.

Material and methods

All cases of congenital dacryocystocele diagnosed in our center between 2020 and 2022 were identified in our database to establish the incidence of these defects. The medical records were then reviewed for gestational age, gender, size, and side of dacryocystocele and postnatal outcome.

Results

A total of 26 cases with dacryocystoceles were found at a mean gestation age of 30 weeks (range, 29–33 weeks). The overall incidence was 1.35%, there was an obvious female predominance (73%), 69% of cases were unilateral and 31% were bilateral. There were no serious associated anomalies. The postnatal outcome was obtained in 88% of cases (23/26), in 39% (9 out of 23) cases the dacryocystocele was confirmed postnatally, and in 7 (77%) of these it was complicated by dacryocystitis. The spontaneous resolution was more likely in the right-sided lesions, and this was statistically significant. The treatment in cases with dacryocystitis involved massage and local antibiotics and was successful in 71% of cases. 2 cases (29%) suffer from recurrent dacryocystitis and are followed up with recurrent probing and local antibiotics. No breathing difficulties were described postnatally in our study group.

Conclusion

The overall prenatal incidence of dacryocystocele was 1.35%. The outcome is favorable, 61% of dacryocystoceles in our study resolved spontaneously and in no case postnatal breathing complications were reported. Dacryocystitis was common in persisting cases but was usually treated successfully by massage and antibiotics. The right-sided dacryocystoceles are more likely to resolve spontaneously than left-sided, and this was the only significant factor predicting persistence.

材料和方法在我们的数据库中找出 2020 年至 2022 年在本中心确诊的所有先天性泪囊畸形病例,以确定这些缺陷的发病率。结果共发现 26 例患有泪囊畸形的病例,平均孕周为 30 周(范围为 29-33 周)。总发病率为 1.35%,女性明显占多数(73%),69%为单侧,31%为双侧。没有严重的相关畸形。有 88% 的病例(23/26 例)在出生后得到了治疗,39% 的病例(23 例中有 9 例)在出生后证实患有泪囊炎,其中 7 例(77%)并发泪囊炎。右侧病变更有可能自然消退,这在统计学上有显著意义。对泪囊炎病例的治疗包括按摩和局部抗生素,71%的病例治疗成功。有 2 例(29%)患者的泪囊炎反复发作,后续治疗包括反复探查和局部抗生素。结论 泪囊炎的产前总发病率为 1.35%。我们的研究结果显示,61%的泪囊炎可自行消退,无一例出现产后呼吸并发症。泪囊炎常见于久治不愈的病例,但通常都能通过按摩和抗生素得到成功治疗。右侧泪囊炎比左侧泪囊炎更有可能自然消退,这是预测持续存在的唯一重要因素。
{"title":"Prenatal diagnosis and outcome of congenital dacryocystoceles","authors":"Veronika Frisova ,&nbsp;Michaela Kranerova ,&nbsp;Jan Mikulec","doi":"10.1016/j.tjog.2024.04.015","DOIUrl":"10.1016/j.tjog.2024.04.015","url":null,"abstract":"<div><h3>Objective</h3><p>To determine the incidence and present our experience with prenatal diagnosis and postnatal outcome of dacryocystocele.</p></div><div><h3>Material and methods</h3><p>All cases of congenital dacryocystocele diagnosed in our center between 2020 and 2022 were identified in our database to establish the incidence of these defects. The medical records were then reviewed for gestational age, gender, size, and side of dacryocystocele and postnatal outcome.</p></div><div><h3>Results</h3><p>A total of 26 cases with dacryocystoceles were found at a mean gestation age of 30 weeks (range, 29–33 weeks). The overall incidence was 1.35%, there was an obvious female predominance (73%), 69% of cases were unilateral and 31% were bilateral. There were no serious associated anomalies. The postnatal outcome was obtained in 88% of cases (23/26), in 39% (9 out of 23) cases the dacryocystocele was confirmed postnatally, and in 7 (77%) of these it was complicated by dacryocystitis. The spontaneous resolution was more likely in the right-sided lesions, and this was statistically significant. The treatment in cases with dacryocystitis involved massage and local antibiotics and was successful in 71% of cases. 2 cases (29%) suffer from recurrent dacryocystitis and are followed up with recurrent probing and local antibiotics. No breathing difficulties were described postnatally in our study group.</p></div><div><h3>Conclusion</h3><p>The overall prenatal incidence of dacryocystocele was 1.35%. The outcome is favorable, 61% of dacryocystoceles in our study resolved spontaneously and in no case postnatal breathing complications were reported. Dacryocystitis was common in persisting cases but was usually treated successfully by massage and antibiotics. The right-sided dacryocystoceles are more likely to resolve spontaneously than left-sided, and this was the only significant factor predicting persistence.</p></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"63 5","pages":"Pages 717-721"},"PeriodicalIF":2.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1028455924001815/pdfft?md5=ce358c31fc08eeb53f39cf7000eda8d3&pid=1-s2.0-S1028455924001815-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142163723","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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