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Balanced Robertsonian translocation mosaicism of mosaic 45,XY,der(13;21) (q10;q10)/46,XY at amniocentesis in a pregnancy with a favorable outcome and no perinatal decrease of the cell line with the balanced Robertsonian translocation 在羊膜穿刺术中发现 45,XY、der(13;21) (q10;q10)/46,XY平衡罗伯逊易位嵌合体的妊娠,结果良好,且围产期罗伯逊平衡易位的细胞系没有减少
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.tjog.2024.05.014
Chih-Ping Chen
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引用次数: 0
Comment to the article title named “Effect of dienogest on serum anti-mullerian hormone level after laparoscopic cystectomy of ovarian endometrioma” 对题为 "地诺孕酮对卵巢子宫内膜异位症腹腔镜囊肿切除术后血清抗苗勒氏管激素水平的影响 "的文章发表评论
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.tjog.2023.11.013
Horng-Jyh Tsai
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引用次数: 0
A quick method to customize pictorial blood assessment tools towards better measurement: Method development and validation 快速定制图形化血液评估工具的方法,以实现更好的测量:方法开发与验证
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.tjog.2022.08.023
Chien-Ming Chen , Yu-Hwei Tseng , Sunny Jui-Shan Lin , Li-Li Chen , Jun-Dai Lin , Yi-Chang Su

Objective

Identification of heavy menstrual bleeding (HMB) cases in primary care settings is often done by using pictorial blood assessment charts (PBAC). The study aims to highlight the challenge of assessing blood loss, to develop a standardized method to efficiently customize a patient-reported pictorial chart, to validate the tool produced with our proposed method, and to demonstrate the feasibility of using PBACs in settings where resources are scarce.

Materials and methods

Using blood samples and feedback from 21 women aged 30–51 years, we followed guidelines suggested in the literature, developed a method to produce PBACs for regular, long and night sizes, and had 9 participants testuse them. Linear regression analysis was performed to determine the correlation between participants’ scores and menstrual blood weight.

Results

The study demonstrated the feasibility of customizing product-sensitive and size-specific pictorial charts by adopting essential steps including collecting menstrual blood with menstrual cups, employing fluid application techniques, and using sanitary pads as icons for easy identification. Linear regression analyses of score versus blood weight showed that the recorded blood weight was around 95% of the scored values (R2 = 0.9428, 0.947, and 0.9508, respectively; p < 0.001).

Conclusion

Valid patient-reported PBACs created by the proposed method provides an innovative women's healthcare solution to assist HMB identification and reduce health expenditure by preventing risks for HMB related complications in varying economic and technological contexts. Women's participation in tracking menstrual abnormalities may improve health literacy.

目的在基层医疗机构中,大量月经出血(HMB)病例的识别通常是通过使用图形化失血评估图(PBAC)来完成的。本研究旨在强调评估失血量所面临的挑战,开发一种标准化方法来有效定制患者报告的图形图表,验证用我们建议的方法制作的工具,并证明在资源匮乏的环境中使用 PBAC 的可行性。材料和方法利用 21 名 30-51 岁女性的血样和反馈,我们遵循文献中建议的指南,开发了一种方法来制作常规、长期和夜间规模的 PBAC,并让 9 名参与者测试使用。结果该研究证明了定制产品敏感型和特定尺寸的图形图表的可行性,具体方法包括使用月经杯收集经血、使用液体涂抹技术以及使用卫生护垫作为图标以便于识别。得分与血重的线性回归分析表明,记录的血重约为评分值的 95%(R2 分别为 0.9428、0.947 和 0.9508;p <0.001)。妇女参与追踪月经异常可提高健康素养。
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引用次数: 0
Mosaic distal 9p deletion or 46,XY,del(9)(p23)/46,XY at amniocentesis in a pregnancy associated with perinatal progressive decrease of the aneuploid cell line and a favorable fetal outcome 妊娠期羊膜腔穿刺时发现的马赛克远端9p缺失或46,XY,del(9)(p23)/46,XY与围产期非整倍体细胞系的逐渐减少及良好的胎儿结局有关
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.tjog.2024.05.007
Chih-Ping Chen , Fang-Tzu Wu , Yen-Ting Pan , Peih-Shan Wu , Chen-Chi Lee , Wen-Lin Chen , Chien-Ling Chiu , Wayseen Wang

Objective

We present mosaic distal 9p deletion at prenatal diagnosis in a pregnancy associated with a favorable fetal outcome.

Case report

A 34-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XY, del(9)(p23)[8]/46,XY[17]. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes showed 43% mosaicism for the 9p24.3p23 deletion. Prenatal ultrasound suspected hypospadias and echogenic bowel. At 23 weeks of gestation, she was referred for genetic counseling, and repeat amniocentesis revealed a karyotype of 46,XY,del(9)(p23)[10]/46,XY[10]. The parental karyotypes were normal. Molecular genetic analysis on uncultured amniocytes revealed no uniparental disomy (UPD) 9 by quantitative fluorescence polymerase chain reaction (QF-PCR) and arr 9p24.3p23 × 1.55 (40%–50% mosaicism) by aCGH. At 27 weeks of gestation, she underwent the third amniocentesis which revealed a karyotype of 46,XY,del(9)(p23)[6]/46,XY[14]. Simultaneous aCGH analysis on the DNA extracted from uncultured amniocytes revealed the result of arr 9p24.3p23 (35% mosaicism). Prenatal ultrasound was normal. She was advised to continue the pregnancy, and a 3020-g phenotypically normal male baby was delivered at 41 weeks of gestation. At birth, the karyotypes of cord blood, umbilical cord and placenta were 46,XY,del(9)(p23)[7]/46,XY[37], 46,XY,del(9)(p23)[17]/46,XY[23] and 46,XY in 40/40 cells, respectively. When follow-up at age three months, the neonate was normal in phenotype and development. The peripheral blood had a karyotype of 46,XY,del(9)(p23)[3]/46,XY[37], and interphase fluorescence in situ hybridization (FISH) analysis on buccal mucosal cells showed 13% (13/102 cells) mosaicism for the distal 9p deletion.

Conclusion

Mosaic distal 9p deletion with a normal cell line at prenatal diagnosis can be associated with a favorable fetal outcome and perinatal progressive decrease of the aneuploid cell line.

病例报告 一位 34 岁的初产妇因高龄而在妊娠 17 周时接受了羊膜腔穿刺术。羊膜腔穿刺显示其核型为 46,XY,del(9)(p23)[8]/46,XY[17]。对未培养羊膜细胞提取的 DNA 进行的同步阵列比较基因组杂交(aCGH)分析显示,9p24.3p23 缺失的嵌合率为 43%。产前超声检查怀疑她患有尿道下裂和肠回声异常。在妊娠 23 周时,她被转诊接受遗传咨询,重复羊膜腔穿刺术显示核型为 46,XY,del(9)(p23)[10]/46,XY[10]。父母的核型正常。通过定量荧光聚合酶链反应(QF-PCR)对未培养的羊膜细胞进行分子遗传学分析,未发现单亲裂殖症(UPD)9,而通过 aCGH 分析,发现 9p24.3p23 × 1.55(40%-50% 嵌合)。妊娠 27 周时,她接受了第三次羊水穿刺,结果显示核型为 46,XY,del(9)(p23)[6]/46,XY[14]。同时对从未培殖羊膜细胞中提取的 DNA 进行的 aCGH 分析显示,结果为 9p24.3p23(35% 嵌合)。产前超声检查结果正常。医生建议她继续妊娠,并在妊娠 41 周时产下一名 3020 克表型正常的男婴。出生时,脐血、脐带和胎盘的核型分别为 46,XY,del(9)(p23)[7]/46,XY[37]、46,XY,del(9)(p23)[17]/46,XY[23]和 46,XY in 40/40 cells。在三个月大时进行随访,新生儿的表型和发育均正常。外周血核型为 46,XY,del(9)(p23)[3]/46,XY[37],口腔黏膜细胞的相间荧光原位杂交(FISH)分析显示,13%(13/102 个细胞)的远端 9p 缺失存在嵌合现象。
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引用次数: 0
Evolving treatment paradigms for platinum-resistant ovarian cancer: An update narrative review 铂类耐药卵巢癌治疗范例的演变:最新叙述性综述
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.tjog.2024.05.006
Hao Lin , Chen-Hsuan Wu , Hung-Chun Fu , Yu-Che Ou

Platinum-resistant ovarian cancer (PROC) refers to disease progression within 6 months after the completion of platinum-based chemotherapy. Historically, treatment options for PROC were limited with a poor prognosis and non-platinum single agent plus bevacizumab has been the mainstay of treatment. Fortunately, there have been notable advancements in recent years, leading to an advance in treatment paradigms for this challenging disease. Various combinations of chemotherapy, targeted agents such as poly (ADP-ribose) polymerase (PARP) inhibitors, and immunotherapy are being explored for an improved treatment outcome. Antibody-drug conjugates targeting folate receptor alpha, which deliver a cytotoxic payload directly to cancer cells, have emerged as a promising therapeutic approach for PROC. WEE1 inhibitors, such as adavosertib, function by inhibiting the WEE1 kinase activity, leading to premature entry of a cell into mitosis phase and thus increased DNA damage. It has been observed that cancer cells with TP53 mutations may be more sensitive to WEE1 inhibitors. Biomarker testing such as analysis of the expression level of folate receptor alpha or mutation in TP53 may be applicable for identifying patients who are more likely to respond to the specific therapy, enabling a more personalized treatment approach. This overview summarizes key clinical findings on the efficacy and safety of theses novel biomarker-driven therapeutic approaches.

铂类耐药卵巢癌(PROC)是指在完成铂类化疗后的 6 个月内疾病进展。一直以来,铂耐药卵巢癌的治疗方案有限,预后较差,非铂类单药加贝伐单抗一直是治疗的主流。值得庆幸的是,近些年来这种具有挑战性疾病的治疗模式取得了显著进展。目前正在探索化疗、多聚(ADP-核糖)聚合酶(PARP)抑制剂等靶向药物和免疫疗法的各种组合,以改善治疗效果。以叶酸受体α为靶点的抗体-药物共轭物可直接向癌细胞释放细胞毒性载荷,已成为一种很有前景的 PROC 治疗方法。WEE1 抑制剂(如 adavosertib)通过抑制 WEE1 激酶活性发挥作用,导致细胞过早进入有丝分裂期,从而增加 DNA 损伤。据观察,TP53 突变的癌细胞可能对 WEE1 抑制剂更敏感。生物标志物检测,如叶酸受体α表达水平或TP53突变分析,可用于识别更有可能对特定疗法产生反应的患者,从而实现更个性化的治疗方法。本综述总结了这些生物标记物驱动的新型治疗方法在疗效和安全性方面的主要临床发现。
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引用次数: 0
False negative non-invasive prenatal testing (NIPT) result for trisomy 7 and false positive NIPT result for trisomy 2 in a pregnancy associated with low-level mosaic trisomy 7 at amniocentesis and a favorable outcome 羊膜腔穿刺术中出现的 7 三体综合征无创产前检测(NIPT)假阴性结果和 2 三体综合征无创产前检测(NIPT)假阳性结果,以及与低水平镶嵌型 7 三体综合征相关的妊娠的良好结局
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.tjog.2024.05.013
Chih-Ping Chen
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引用次数: 0
Mosaicism for 47,XXY or 47,XXY/46,XY at amniocentesis in a pregnancy with a favorable outcome and no prominent perinatal decrease of the 47,XXY cell line 在羊膜穿刺术中发现 47,XXY 或 47,XXY/46,XY 嵌合体的孕妇,结果良好,且 47,XXY 细胞系在围产期没有明显减少
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.tjog.2024.05.016
Chih-Ping Chen
{"title":"Mosaicism for 47,XXY or 47,XXY/46,XY at amniocentesis in a pregnancy with a favorable outcome and no prominent perinatal decrease of the 47,XXY cell line","authors":"Chih-Ping Chen","doi":"10.1016/j.tjog.2024.05.016","DOIUrl":"https://doi.org/10.1016/j.tjog.2024.05.016","url":null,"abstract":"","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/S1028455924001438/pdfft?md5=202d7c965309b636e8e2f078a4671f64&pid=1-s2.0-S1028455924001438-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141605239","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
Detection of mosaic ring chromosome 12 or 46,XY,r(12) (p13.3q24.33)/46, XY in a 37-year-old male associated with oligospermia but no other apparently phenotypic abnormalities 在一名伴有少精子症但无其他明显表型异常的 37 岁男性体内检测到 12 号或 46,XY,r(12) (p13.3q24.33)/46, XY 嵌合环状染色体
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.tjog.2024.05.017
Chih-Ping Chen
{"title":"Detection of mosaic ring chromosome 12 or 46,XY,r(12) (p13.3q24.33)/46, XY in a 37-year-old male associated with oligospermia but no other apparently phenotypic abnormalities","authors":"Chih-Ping Chen","doi":"10.1016/j.tjog.2024.05.017","DOIUrl":"https://doi.org/10.1016/j.tjog.2024.05.017","url":null,"abstract":"","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/S102845592400144X/pdfft?md5=7a9268a6bb0754d19912b9de7d309352&pid=1-s2.0-S102845592400144X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141604760","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
Chronic tubal pregnancy without positive pregnant tests, a rare but possible scenario 慢性输卵管妊娠,但妊娠测试结果呈阳性,这种情况虽然罕见,却有可能发生
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.tjog.2024.04.010
Shuo-Mei Hung , Jen-Ruei Chen

Objective

Chronic ectopic pregnancy is a variant of ectopic pregnancy featured with a low or normal serum beta-human chorionic gonadotropin (β-hCG) test. Obscure clinical presentations and non-specific images make chronic ectopic pregnancy a diagnostic dilemma until now.

Case Report

A 40-year-old female was misdiagnosed as tubo-ovarian abscess initially due to chronic lower abdominal pain, negative pregnancy test, and a complicated pelvic mass on abdominal CT scan and serial follow-up ultrasonography. Diagnostic laparoscopy was performed because of persistent pelvic mass with abdominal pain and irregular vaginal bleeding. Left tubal salpingectomy was performed and pathology reported a hematocele with inactive trophoblast tissue. Chronic ectopic pregnancy was proved. The symptoms resolved completely after our surgery.

Conclusion

An abnormal adnexal mass with a history of recent pregnancy could still be possible for chronic ectopic pregnancy even with a negative pregnancy test. Diagnostic laparoscopy and pathology confirmation could be helpful when the clinical manifestation is confusing.

慢性异位妊娠是异位妊娠的一种变体,其特点是血清β-人绒毛膜促性腺激素(β-hCG)检测结果偏低或正常。病例报告:一名 40 岁女性最初被误诊为输卵管卵巢脓肿,原因是长期下腹痛、妊娠试验阴性、腹部 CT 扫描和连续随访超声检查发现复杂的盆腔肿块。由于盆腔肿块持续存在,并伴有腹痛和不规则阴道出血,医生对其进行了诊断性腹腔镜检查。进行了左侧输卵管输卵管切除术,病理报告为血肿,滋养细胞组织不活跃。慢性异位妊娠得到证实。结论 即使妊娠试验呈阴性,有近期妊娠史的异常附件包块仍有可能是慢性宫外孕。当临床表现令人困惑时,诊断性腹腔镜检查和病理证实可能会有所帮助。
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引用次数: 0
Effectiveness of high-intensity focused ultrasound combined with gonadotropin-releasing hormone agonist or combined with levonorgestrel-releasing intrauterine system for adenomyosis: A systematic review and meta-analysis 高强度聚焦超声联合促性腺激素释放激素激动剂或联合左炔诺孕酮释放宫内系统治疗子宫腺肌症的疗效:系统回顾和荟萃分析
IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.tjog.2024.01.036
Yi-Liang Lee , Yin-Shiuan Bai , Mu-Hsien Yu , Fung-Wei Chang , Yu-Chi Wang , Kai-Jo Chiang , Gwo-Jang Wu , Chang-Sheng Yin

Gonadotropin-Releasing Hormone Agonist (GnRH-a) and levonorgestrel releasing intrauterine system (LNG-IUS) are conventional conservative treatments for adenomyosis, and high-intensity focused ultrasound (HIFU) is a novel ablation technique. This study aimed to investigate the effectiveness of HIFU combined with GnRH-a or LNG-IUS for adenomyosis patients.

In this systematic review and meta-analysis, Pubmed, Embase, Cochrane Library and Scopus databases were searched up to December 2021. Published studies comparing HIFU plus GnRH-a with HIFU plus LNG-IUS in adenomyosis patients were assessed for eligibility by two independent authors. Risk of bias tool was utilized for risk evaluation. We selected treatment effective rate of dysmenorrhea (pain during menstruation) as the primary outcome; effective rate of menorrhagia severity and reduction rate of adenomyotic lesion as the secondary outcomes. Adverse effects were assessed.

Four studies with a total 729 patients were enrolled in the meta-analysis. HIFU plus LNG-IUS showed lower dysmenorrhea [within 6 months: risk ratio (RR) 0.88, 95% confidence interval (CI) 0.83–0.93, p < 0.00001; over 1 year: RR 0.73, 95% CI 0.65–0.82, p < 0.00001] and less menorrhagia severity (RR 0.63, 95% CI 0.60–0.66, p < 0.00001) than HIFU plus GnRH-a. Both groups demonstrated equal efficacy in adenomyotic lesion reduction rate (RR 1.03, 95% CI 0.97–1.09, p = 0.30). Adverse effects happened equally in both groups.

Combination therapy of HIFU and LNG-IUS revealed better effectiveness in treating dysmenorrhea and menorrhagia than that of HIFU and GnRH-a. However, interpreting the conclusion should be approached with caution as a result of significant heterogeneity.

促性腺激素释放激素激动剂(GnRH-a)和左炔诺孕酮释放宫内系统(LNG-IUS)是子宫腺肌症的传统保守疗法,而高强度聚焦超声(HIFU)是一种新型消融技术。本研究旨在探讨 HIFU 联合 GnRH-a 或 LNG-IUS 对腺肌症患者的疗效。已发表的研究对子宫腺肌症患者进行了HIFU加GnRH-a与HIFU加LNG-IUS的比较,由两位独立作者进行资格评估。使用偏倚风险工具进行风险评估。我们选择痛经(月经期间疼痛)的治疗有效率作为主要结果,月经过多严重程度的有效率和子宫腺肌症病灶的缩小率作为次要结果。荟萃分析共纳入了四项研究,共计 729 名患者。HIFU加LNG-IUS显示出较低的痛经[6个月内:风险比(RR)0.88,95%置信区间(CI)0.83-0.93,p <0.00001;1年以上:RR 0.73,95%置信区间(CI)0.83-0.93,p <0.00001]:RR0.73,95% CI0.65-0.82,p< 0.00001],月经过多严重程度(RR0.63,95% CI0.60-0.66,p< 0.00001)低于 HIFU 加 GnRH-a。两组在腺肌病变缩小率方面的疗效相同(RR 1.03,95% CI 0.97-1.09,P = 0.30)。HIFU和LNG-IUS联合疗法在治疗痛经和月经过多方面的疗效优于HIFU和GnRH-a。然而,由于存在显著的异质性,在解释结论时应谨慎。
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引用次数: 0
期刊
Taiwanese Journal of Obstetrics & Gynecology
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