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Clinical data analysis of nine years of experience with twin pregnancy: a tertiary hospital-based retrospective study 九年来双胎妊娠的临床资料分析:一项基于三级医院的回顾性研究
IF 0.2 4区 医学 Q4 Medicine Pub Date : 2022-02-11 DOI: 10.31083/j.ceog4902045
Yuan Ting, Zhang Ting, Wang Yan-Yan, Li Xue-Lan, Han Zhen
Background: The incidence of twin pregnancy has been increasing worldwide and in China. This study provided a comprehensive analysis of the clinical data of twins in a Chinese tertiary hospital and summarized the clinical characteristics. Methods: A retrospective collection of data was carried out for 717 cases of twins in the Obstetrics Department of the First Affiliated Hospital of Xi’an Jiaotong University from 2011 to 2020. A comprehensive analysis of baseline information and maternal and perinatal outcomes was conducted, and the twin birth rate of the study population was also calculated. Results: The average twin delivery rate was 2.61%. A total of 206 cases were monochorionic, and 511 cases were dichorionic. Premature delivery, hypertensive disorder complicating pregnancy and premature rupture of membranes were the three most common complications. Caesarean section rates from 2011 to 2019 were maintained at 70%–80%. A total of 144 cases (20.08%) of 717 twin cases were complicated twins. Birthweight discordance ≥25% accounted for 13.53% of cases. Adverse neonatal outcomes with higher incidences were neonatal respiratory distress syndrome, small for gestational age and 1 min Apgar score ≤7. Conclusions: Twin pregnancy has different and unique clinical features. Obstetricians should pay close attention to its clinical management to obtain better perinatal outcomes.
背景:双胎妊娠的发生率在世界和中国都呈上升趋势。本研究对我国某三级医院的双胞胎临床资料进行综合分析,总结其临床特点。方法:回顾性收集2011 ~ 2020年在西安交通大学第一附属医院产科就诊的717例双胞胎的资料。对基线信息、孕产妇和围产期结局进行综合分析,并计算研究人群的双胞胎出生率。结果:双胎平均分娩率为2.61%。单绒毛膜206例,双绒毛膜511例。早产、高血压疾病合并妊娠和胎膜早破是三种最常见的并发症。2011 - 2019年剖宫产率维持在70%-80%。717例双胞胎中144例为复杂双胞胎,占20.08%。出生体重不一致≥25%占13.53%。新生儿不良结局发生率较高的是新生儿呼吸窘迫综合征,胎龄较小,1 min Apgar评分≤7。结论:双胎妊娠具有不同且独特的临床特征。产科医生应密切关注其临床管理,以获得更好的围产儿结局。
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引用次数: 0
Safety and efficacy of knotless barbed suture in cesarean section using postpartum ultrasound: a retrospective cohort study 产后超声剖宫产术中无结倒钩缝合的安全性和有效性:一项回顾性队列研究
IF 0.2 4区 医学 Q4 Medicine Pub Date : 2022-02-11 DOI: 10.31083/j.ceog4902041
Ju Yeon Hong, Ho-Yeon Kim, G. Cho, K. Ahn, S. Hong, M. Oh, H. Kim, H. Baek
Background: While speed, safety, and efficacy are necessary in the operation of cesarean section (CS), a number of new devices have been introduced to support the technique. This retrospective study was conducted to assess the usability and safety of knotless barbed suture, compared to conventional method, for closure of uterine myometrium during cesarean section. Methods: Patients who underwent cesarean delivery at Korea University Ansan Hospital between August 2018 and December 2019 were reviewed. Surgical outcomes including uterine closure time, operating time, estimated blood loss, and sonographic results of residual myometrial thickness at the site of incision at 6 to 8 weeks after operation were analyzed. Results: Out of total 78 women, 44 patients had knotless barbed suture and 34 patients underwent conventional suture. Compared to conventional method, the uterine closure time was significantly reduced (p = 0.012). Operative time, estimated blood loss during operation, hemoglobin difference on the third operative day, and the number of cases with transfusion, postpartum infection, and bleeding demonstrated no significant differences between the two groups. At 6 to 8 weeks after operation, transvaginal ultrasound revealed no differences in residual myometrial scar thickness. Conclusion: Knotless barbed suture resulted in significantly shorter uterine closure time and no increased rate of perioperative complications. Our work supports that knotless barbed suture can be effectively used for cesarean section.
背景:虽然剖宫产手术的速度、安全性和有效性是必要的,但已经引入了许多新的设备来支持这项技术。本回顾性研究旨在评估与传统方法相比,无节带倒钩缝线在剖宫产期间闭合子宫肌层的可用性和安全性。方法:对2018年8月至2019年12月在韩国大学安山医院接受剖宫产的患者进行回顾性分析。分析手术结果,包括子宫闭合时间、手术时间、估计失血量和术后6-8周切口处残余肌层厚度的超声结果。结果:在总共78名女性中,44名患者采用了无节倒钩缝合,34名患者采用常规缝合。与传统方法相比,子宫闭合时间显著缩短(p=0.012)。两组的手术时间、术中估计出血量、第三个手术日的血红蛋白差异以及输血、产后感染和出血的病例数均无显著差异。术后6至8周,经阴道超声显示残余子宫肌层瘢痕厚度没有差异。结论:无结倒刺缝合显著缩短了子宫闭合时间,围手术期并发症发生率没有增加。我们的工作支持无节倒钩缝线可以有效地用于剖宫产。
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引用次数: 1
Accuracy of office hysteroscopy in the diagnosis of chronic endometritis 宫腔镜在诊断慢性子宫内膜炎中的准确性
IF 0.2 4区 医学 Q4 Medicine Pub Date : 2022-02-11 DOI: 10.31083/j.ceog4902044
Mohamed Elmahdy Abdel Moneim, Amany Abdelbary Abdel Latif, Marwa Shehata, I. Ghanem
Background: To test the accuracy of office hysteroscopy in the diagnosis of chronic endometritis (CE) as compared to histopathological diagnosis. Methods: This prospective cohort study was conducted in a private hospital from July 2018 to January 2020. 220 infertile women were scheduled for first attempt of intracytoplasmic sperm injection (ICSI). Patients ranging in age from 20–40 with history of primary infertility scheduled for ICSI for the first time were included, while patients with chronic diseases, severe vaginal bleeding, previous failed ICSI, polycystic ovary syndrome (PCOS), or endometriosis were excluded. All patients received postmenstrual office hysteroscopy to rule out the presence of CE; at the same setting, endometrial biopsy was taken and sent for histopathological examination. Results: 174 cases (79.1%) were diagnosed as CE at hysteroscopy, while 162 (73.6%) cases were positive at histopathology. 99.4% of the cases presented with hyperaemia, followed by oedema in 74.7% and micro-polypi in 58.6% of cases with CE. There was a significant difference between the hysteroscopic and the histopathologic diagnosis of CE (p < 0.001). The sensitivity, specificity, and positive and negative predictive values of hysteroscopy were 93.83%, 62.07%, 87.36% and 78.26% respectively. Conclusions: Office hysteroscopic evaluation is relatively accurate on its own but can be further confirmed by CD138 staining.
背景:与组织病理学诊断相比,检验办公室宫腔镜在诊断慢性子宫内膜炎(CE)中的准确性。方法:这项前瞻性队列研究于2018年7月至2020年1月在一家私立医院进行。计划对220名不孕妇女进行第一次卵浆内单精子注射(ICSI)。年龄在20-40岁之间,有首次计划进行ICSI的原发性不孕史的患者被纳入,而患有慢性疾病、严重阴道出血、既往ICSI失败、多囊卵巢综合征(PCOS)或子宫内膜异位症的患者被排除在外。所有患者均接受了月经后办公室宫腔镜检查,以排除CE的存在;在同样的情况下,子宫内膜活检并进行组织病理学检查。结果:宫腔镜诊断为CE 174例(79.1%),组织病理学阳性162例(73.6%)。99.4%的病例表现为充血,其次是水肿74.7%和微息肉58.6%的CE病例。宫腔镜诊断CE的敏感性、特异性、阳性和阴性预测值分别为93.83%、62.07%、87.36%和78.26%。结论:Office宫腔镜评估本身是相对准确的,但可以通过CD138染色进一步证实。
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引用次数: 1
Prediction of intrauterine inflammation in patients with preterm premature rupture of membranes at 28 to 34 weeks of gestation 妊娠28至34周早产胎膜早破患者宫内炎症的预测
IF 0.2 4区 医学 Q4 Medicine Pub Date : 2022-02-11 DOI: 10.31083/j.ceog4902042
Yunxia Wang, Yanlong Xu, Sha Wang, Xiaoliang Wang, Yongzhong Gu, Ye Zhang
Background: To analyze the influence of white blood cells (WBC), serum C-reactive protein (CRP), procalcitonin (PCT), and other risk factors on the prognosis of patients with preterm premature rupture of membranes (PPROM) from 28 to 34 weeks of gestation. Methods: We performed a retrospective study of 425 patients with PPROM from 28 to 34 weeks of gestation who delivered infants at Shandong Provincial Hospitals between January 1, 2013 and December 31, 2019. Risk factors for puerperal infection were analyzed using a logistic regression model. A receiver operating characteristic (ROC) curve was constructed, and the area under the curve (AUC) was estimated. Results: Of the 425 patients (mean ± SD age, 34.69 ± 5.55 years), 104 (24.47%) had chorioamnionitis. The CRP level (odds ratio [OR], 1.009; 95% Confidence Interval (CI), 1.003–1.014; P = 0.002), WBC count (OR, 1.170; 95% CI, 1.092–1.254; P < 0.001) and gestational age (OR, 0.772; 95% CI, 0.648–0.921; P = 0.004) were risk factors of chorioamnionitis. Patients who did not undergo previous cesarean section had twice the risk of developing chorionic inflammation (P = 0.022). The cut-off value of CRP level for prediction of chorioamnionitis was 19.69 mg/L with a sensitivity of 65.4%, a specificity of 75.7%, a positive predictive value (PPV) of 46.58%, and a negative predictive value (NPV) of 90.24%. The cut-off value of WBC count was 12.99 × 10/L with a sensitivity of 62.4%, a specificity of 65.8%, a PPV of 36.65%, and an NPV of 84.61%. The cut-off value of PCT level was 0.054 ng/mL with a sensitivity of 81.0%, a specificity of 75.7%, a PPV of 32.08%, and an NPV of 90.67%. The AUC for CRP was 0.731. Conclusions: Study results suggested that CRP level (<19.69 mg/L), WBC count (<12.99 × 10/L) and PCT level (<0.054 ng/mL) had good NPVs for chorioamnionitis, whereas their PPVs were low. The CRP level was found to have the most accurate prediction of chorioamnionitis among patients with PPROM from 28 to 34 weeks of gestation.
背景:分析白细胞(WBC)、血清C反应蛋白(CRP)、降钙素原(PCT)和其他危险因素对妊娠28至34周早产胎膜早破(PPROM)患者预后的影响。方法:我们对2013年1月1日至2019年12月31日期间在山东省医院分娩的425名妊娠28至34周的PPROM患者进行了回顾性研究。采用逻辑回归模型分析产褥期感染的危险因素。构建受试者工作特性(ROC)曲线,并估计曲线下面积(AUC)。结果:425例患者(平均年龄±标准差,34.69±5.55岁)中,104例(24.47%)有绒毛膜羊膜炎。CRP水平(比值比[OR],1.009;95%置信区间(CI),1.003–1.014;P=0.002)、白细胞计数(OR,1.170;95%可信区间,1.092–1.254;P<0.001)和胎龄(OR,0.772;95%置信区间,0.648–0.921;P=0.004)是绒毛膜羊膜炎的危险因素。未接受过剖宫产手术的患者发生绒毛膜炎症的风险是未接受剖宫产的患者的两倍(P=0.022)。CRP水平预测绒毛膜羊膜炎的临界值为19.69mg/L,敏感性为65.4%,特异性为75.7%,阳性预测值(PPV)为46.58%,白细胞计数的临界值为12.99×10/L,灵敏度为62.4%,特异性为65.8%,PPV为36.65%,NPV为84.61%。结论:研究结果表明,CRP水平(<19.69mg/L)、WBC计数(<12.99×10/L)和PCT水平(<0.054ng/mL)对绒毛膜羊膜炎具有良好的NPV,而其PPV较低。在妊娠28至34周的PPROM患者中,CRP水平对绒毛膜羊膜炎的预测最准确。
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引用次数: 0
Enhanced recovery after gynecologic surgery: review of the literature 妇科手术后恢复增强:文献综述
IF 0.2 4区 医学 Q4 Medicine Pub Date : 2022-02-11 DOI: 10.31083/j.ceog4902046
M. Ibanoglu, T. Kınay, Y. Engin-Ustun
Objective: Enhanced Recovery After Surgery (ERAS) includes practices aimed at providing rapid recovery by standardizing pre-and post-surgical care in patients undergoing colon surgery and reducing the metabolic stress response. The ERAS program is a systematic application that includes surgeons, anesthetists, nurses, and assistant healthcare professionals in the care process and has been successfully implemented in the international arena. Studies on ERAS protocols show that this system can be actively applied in different surgical areas. Mechanism: This review article discusses the main reviews and recommendations of the medical community on ERAS and valuable publications in the literature. Findings in brief: Guidelines of the ERAS Society for peri-operative care in gynecological procedures were first published in 2016 and updated in 2019. ERAS Society recommended 12 items for pre-and intra-operative care and 10 post-operative care items. The objectives of these applications are to provide patient education and consultancy services before surgery, to stop oral intake shortly before surgery and to start fast nutrition after surgery, to maintain a balanced body temperature and fluid level to maintain normal physiology, to increase mobilization, to provide pain control with painkillers, prophylaxis of nausea and vomiting and reduction of unnecessary or prolonged use of catheters. Conclusions: Studies suggest that increased compliance with ERAS agents in colon surgery has a positive effect on operation results, but more studies are needed to reach this affirmation in gynecological surgery.
目的:增强术后恢复(ERAS)包括旨在通过规范结肠手术患者的术前和术后护理以及减少代谢应激反应来提供快速恢复的实践。ERAS计划是一个系统的应用程序,包括外科医生、麻醉师、护士和助理医疗保健专业人员参与护理过程,并已在国际舞台上成功实施。对ERAS协议的研究表明,该系统可以积极应用于不同的外科领域。机制:这篇综述文章讨论了医学界对ERAS的主要评论和建议以及文献中有价值的出版物。研究结果简介:ERAS学会妇科手术围手术期护理指南于2016年首次发布,并于2019年更新。ERAS协会推荐了12个术前和术中护理项目和10个术后护理项目。这些应用的目的是在手术前提供患者教育和咨询服务,在手术前不久停止口服,并在手术后开始快速营养,保持平衡的体温和液位以维持正常生理,增加动员,用止痛药控制疼痛,预防恶心和呕吐,减少不必要或长时间使用导管。结论:研究表明,结肠手术中ERAS药物依从性的提高对手术结果有积极影响,但在妇科手术中还需要更多的研究来证实这一点。
{"title":"Enhanced recovery after gynecologic surgery: review of the literature","authors":"M. Ibanoglu, T. Kınay, Y. Engin-Ustun","doi":"10.31083/j.ceog4902046","DOIUrl":"https://doi.org/10.31083/j.ceog4902046","url":null,"abstract":"Objective: Enhanced Recovery After Surgery (ERAS) includes practices aimed at providing rapid recovery by standardizing pre-and post-surgical care in patients undergoing colon surgery and reducing the metabolic stress response. The ERAS program is a systematic application that includes surgeons, anesthetists, nurses, and assistant healthcare professionals in the care process and has been successfully implemented in the international arena. Studies on ERAS protocols show that this system can be actively applied in different surgical areas. Mechanism: This review article discusses the main reviews and recommendations of the medical community on ERAS and valuable publications in the literature. Findings in brief: Guidelines of the ERAS Society for peri-operative care in gynecological procedures were first published in 2016 and updated in 2019. ERAS Society recommended 12 items for pre-and intra-operative care and 10 post-operative care items. The objectives of these applications are to provide patient education and consultancy services before surgery, to stop oral intake shortly before surgery and to start fast nutrition after surgery, to maintain a balanced body temperature and fluid level to maintain normal physiology, to increase mobilization, to provide pain control with painkillers, prophylaxis of nausea and vomiting and reduction of unnecessary or prolonged use of catheters. Conclusions: Studies suggest that increased compliance with ERAS agents in colon surgery has a positive effect on operation results, but more studies are needed to reach this affirmation in gynecological surgery.","PeriodicalId":10312,"journal":{"name":"Clinical and experimental obstetrics & gynecology","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2022-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47418611","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}
引用次数: 0
Identification and characteristics of drug resistance and genotypes of methicillin-resistant Staphylococcus aureus isolated from intensive care units at obstetrics & gynaecology departments: a retrospective analysis 妇产科重症监护病房分离的耐甲氧西林金黄色葡萄球菌的耐药性和基因型鉴定、特征:回顾性分析
IF 0.2 4区 医学 Q4 Medicine Pub Date : 2022-02-11 DOI: 10.31083/j.ceog4902047
Zhong-Kun Huo, Binxian Li, Xue Meng, Peiyao Li, Mingcheng Li
Background: The aim of this study was to investigate the prevalence and characteristics of SCCmec genotypes and drug resistance of methicillin-resistant Staphylococcus aureus (MRSA) isolated from intensive care units (ICU) at obstetrics & gynaecology departments in a tertiary hospital. Methods: MRSA obtained from patients admitted to the ICU were isolated and identified by using the Vitek 2 Compact System with GP21 342 cards. Antimicrobial susceptibility profiles and MRSA screening were determined by using the broth microdilution method according to CLSI guidelines. Determination of resistant genes and SCCmec genotypes were performed by multiplex PCR. Results: Of the 283 patients evaluated, 120 (42.4%) isolates were phenotypically and genotypically confirmed to be MRSA. Among 120 strains, 15 (12.5%) strains were SCCmec type II, 96 (80%) strains were SCCmec type III and 9 (7.5%) strains were undifferentiated type. All MRSA strains were recognized as multidrug resistant, exhibiting 100% resistance to cefoxitin and oxacillin, followed by erythromycin and levofloxacin (more than 80% and 90% respectively). Different SCCmec genotypes in MRAS isolates showed distinct antimicrobial agent patterns. SCCmec type II was highly resistant to clindamycin (93.3%) with lower resistance to tetracycline (26.7%) with SCCmec type III being highly resistant to gentamicin (91.7%). Undifferentiated strains were resistant to Cotrimoxazole (77.8%). There was a statistical difference among type II, type III and Undifferentiated strains (P < 0.05). Of interest, a high prevalence of resistance to rifampicin (more than 75%) was also noted in the hospital. With different SCCmec genotypes, MRSA isolates were sensitive to minocycline, quinupristin, teicoplanin, vancomycin and nitrofurantoin. Conclusions: Our data indicate that SCCmec type II and SCCmec type III of MRSA are circulating in the ICU and constitute a major source for the infection spread. It is necessary to increase surveillance of MRSA in the ICU and develop adequate infection prevention strategies.
背景:本研究旨在调查某三级医院妇产科重症监护病房(ICU)耐甲氧西林金黄色葡萄球菌(MRSA) SCCmec基因型的流行、特点和耐药性。方法:采用GP21 342卡Vitek 2 Compact System对ICU住院患者MRSA进行分离鉴定。根据CLSI指南,采用微量肉汤稀释法测定耐药谱和MRSA筛选。采用多重PCR检测耐药基因和SCCmec基因型。结果:在283例患者中,120例(42.4%)分离株经表型和基因表型证实为MRSA。120株中,SCCmecⅱ型15株(12.5%),SCCmecⅲ型96株(80%),未分化型9株(7.5%)。所有MRSA菌株均为多重耐药菌株,对头孢西丁和奥西林的耐药率为100%,其次是红霉素和左氧氟沙星(分别超过80%和90%)。不同SCCmec基因型在MRAS分离株中表现出不同的抗菌药物模式。SCCmec II型对克林霉素高耐药(93.3%),对四环素低耐药(26.7%),SCCmec III型对庆大霉素高耐药(91.7%)。未分化菌株对复方新诺明耐药(77.8%)。II型、III型和未分化菌株间差异有统计学意义(P < 0.05)。值得注意的是,该医院对利福平的耐药率也很高(超过75%)。不同SCCmec基因型的MRSA分离株对米诺环素、奎奴普汀、替柯planin、万古霉素和呋喃妥因敏感。结论:我们的数据表明,MRSA的SCCmec II型和SCCmec III型在ICU中流行,是感染传播的主要来源。有必要加强对重症监护室MRSA的监测,并制定适当的感染预防策略。
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引用次数: 0
Rare extragenital endometriosis: pathogenesis and therapy 罕见生殖器外子宫内膜异位症的发病机制及治疗
IF 0.2 4区 医学 Q4 Medicine Pub Date : 2022-02-11 DOI: 10.31083/j.ceog4902043
Francesco Fedele, Simona Di Fatta, A. Busnelli, A. Bulfoni, S. Salvatore, M. Candiani
Background: In the context of extragenital endometriosis, the gastrointestinal, urinary tract, abdominal wall, and thorax localizations are considered relatively frequent, while the umbilical, inguinal, sciatic nerve, liver, and pancreas are instead ”rare”. Methods: Online searches were carried out in PubMed database of the last 20 years for these terms: extragenital endometriosis, umbilical endometriosis, inguinal endometriosis, sciatic nerve endometriosis, hepatic and pancreatic endometriosis. The following exclusion criteria were used: (1) Personal surgical history unspecified. (2) Nonspecific histological diagnosis for each type of endometriosis examined. (3) Inability to distinguish between the personal series of the author and the case reports described. (4) Proceedings of scientific meetings were not included. Tables that are easy to consult were compiled. Results: 810 titles were found among which 162 studies were selected for reading in full text and finally 114 papers were included, which met the objective of the revision. The so-called ”rare” forms of extragenital endometriosis show an unsuspected frequency, an extreme variability of presentation, and uncertain treatment guidelines. Discussion: Gynecologists, general surgeons, and neurologists should be well acquainted with these pathologies to avoid confusing diagnostic paths and to set up adequate therapies.
背景:在生殖器外子宫内膜异位症的情况下,胃肠道、泌尿道、腹壁和胸部的定位被认为相对频繁,而脐带、腹股沟、坐骨神经、肝脏和胰腺则“罕见”。方法:在PubMed数据库中对过去20年的这些术语进行在线搜索:生殖器外子宫内膜异位症、脐带子宫内膜异位病、腹股沟子宫内膜异位、坐骨神经子宫内膜异位术、肝和胰腺子宫内膜异位。使用以下排除标准:(1)未明确的个人手术史。(2) 检查每种类型子宫内膜异位症的非特异性组织学诊断。(3) 无法区分提交人的个人系列和所述案件报告。(4) 科学会议记录不包括在内。编制了易于查阅的表格。结果:共发现810篇论文,其中162篇论文被全文阅读,114篇论文被收录,达到了修订的目的。所谓的“罕见”生殖器外子宫内膜异位症表现出意想不到的频率、表现的极端可变性和不确定的治疗指南。讨论:妇科医生、普通外科医生和神经科医生应该熟悉这些病理学,以避免混淆诊断路径并制定适当的治疗方法。
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引用次数: 0
Prenatal identification of novel HSPG2 variants associated with dyssegmental dysplasia Silverman-Handmaker type Silverman Handmaker型节段性发育不良相关HSPG2新变体的产前鉴定
IF 0.2 4区 医学 Q4 Medicine Pub Date : 2022-02-09 DOI: 10.31083/j.ceog4902037
Yunxia Wang, Hui Wang
Background: We aimed to analyze mutations of the pathogenic gene in dyssegmental dysplasia Silverman-Handmaker (DDSH) type associated with the Heparin sulfate proteoglycan 2 (HSPG2) gene. Case: Prenatal testing for genetic mutations associated with fetal DDSH were performed on a pregnant woman with previous history of carrying a fetus with short limb malformation at the 17th week of gestation. DNA was extracted from amniotic fluid and next-generation sequencing-based deep panel sequencing was performed on the Illumina NextSeq platform to identify possible causative mutations of DDSH. Results: Two novel heterozygous mutations in HSPG2 gene, c.6001dupC (p. R2001pfs*19) and c.11207G>A (p. R373Q), were identified and associated with the DDSH diagnosis. Conclusion: This is the first report to prenatally identify novel mutations in HSPG2 that confirms a DDSH diagnosis.
背景:我们旨在分析与硫酸肝素蛋白多糖2(HSPG2)基因相关的节段性发育不良Silverman Handmaker(DDSH)型致病基因的突变。病例:对一名有妊娠17周携带短肢畸形胎儿病史的孕妇进行了与胎儿DDSH相关的基因突变的产前检测。从羊水中提取DNA,并在Illumina NextSeq平台上进行基于下一代测序的深面板测序,以确定DDSH的可能致病突变。结果:在HSPG2基因中发现了两个新的杂合突变,c.6001dupC(p.R2001pfs*19)和c.11207G>A(p.R373Q),并与DDSH诊断相关。结论:这是第一份产前鉴定HSPG2新突变以证实DDSH诊断的报告。
{"title":"Prenatal identification of novel HSPG2 variants associated with dyssegmental dysplasia Silverman-Handmaker type","authors":"Yunxia Wang, Hui Wang","doi":"10.31083/j.ceog4902037","DOIUrl":"https://doi.org/10.31083/j.ceog4902037","url":null,"abstract":"Background: We aimed to analyze mutations of the pathogenic gene in dyssegmental dysplasia Silverman-Handmaker (DDSH) type associated with the Heparin sulfate proteoglycan 2 (HSPG2) gene. Case: Prenatal testing for genetic mutations associated with fetal DDSH were performed on a pregnant woman with previous history of carrying a fetus with short limb malformation at the 17th week of gestation. DNA was extracted from amniotic fluid and next-generation sequencing-based deep panel sequencing was performed on the Illumina NextSeq platform to identify possible causative mutations of DDSH. Results: Two novel heterozygous mutations in HSPG2 gene, c.6001dupC (p. R2001pfs*19) and c.11207G>A (p. R373Q), were identified and associated with the DDSH diagnosis. Conclusion: This is the first report to prenatally identify novel mutations in HSPG2 that confirms a DDSH diagnosis.","PeriodicalId":10312,"journal":{"name":"Clinical and experimental obstetrics & gynecology","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2022-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42771219","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}
引用次数: 0
Perceived Elementary Grid (PEG) proposal for dyadic coping evaluation in the infertile couple during assisted reproductive treatments 感知基本网格(PEG)方案用于辅助生殖治疗期间不孕夫妇的二元应对评估
IF 0.2 4区 医学 Q4 Medicine Pub Date : 2022-02-09 DOI: 10.31083/j.ceog4902040
G. Buzzaccarini, A. Vitagliano, A. Busnelli, M. Noventa, L. Marin, A. Laganà, G. Gullo, Marco Inghilleri, Simona Luciani, G. Ambrosini, A. Andrisani
1Department of Women and Children’s Health, University of Padua, 35128 Padua, Italy 2Department of Gynecology, Division of Gynecology and Reproductive Medicine, Fertility Center, Humanitas Clinical and Research Center-IRCCS, Rozzano, 20089 Milan, Italy 3Department of Obstetrics and Gynecology, ”Filippo Del Ponte” Hospital, University of Insubria, 21100 Varese, Italy 4Department of Obstetrics and Gynecology, Villa Sofia Cervello Hospital, University of Palermo, 90133 Palermo, Italy 5Interattivamente, Center for Legal Psychology–Clinical Sexology–Psicoterapy, 35139 Padova, Italy *Correspondence: giovanni.buzzaccarini@gmail.com (Giovanni Buzzaccarini) Academic Editor: Michael H. Dahan Submitted: 20 August 2021 Accepted: 7 September 2021 Published: 9 February 2022
1帕多瓦大学妇女和儿童健康系,35128意大利帕多瓦2妇产科,妇科和生殖医学部,生育中心,人道主义临床与研究中心,罗扎诺,20089意大利米兰3因苏布里亚大学“Filippo Del Ponte”医院妇产科,21100 Varese,意大利4巴勒莫大学Sofia Cervello别墅医院妇产科,90133,意大利巴勒莫5 Interattivamente,法律心理学-临床性学-心理学中心,35139 Padova,意大利*通讯:giovanni.buzzaccarini@gmail.com(Giovanni Buzzaccarini)学术编辑:Michael H.Dahan提交:2021年8月20日接受:2021年9月7日发布:2022年2月9日
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引用次数: 5
Evaluation of the clinical significance of serum pentraxin-3 levels in patients with polycystic ovary syndrome 多囊卵巢综合征患者血清五肽-3水平的临床意义评价
IF 0.2 4区 医学 Q4 Medicine Pub Date : 2022-02-09 DOI: 10.31083/j.ceog4902038
F. Yesil, K. Deveci, P. Karlı
Background: Polycystic ovary syndrome (PCOS) is commonly associated with insulin resistance (IR), hyperinsulinemia, and dyslipidemia, which play a role in the development of endothelial dysfunction and promote the early onset of cardiovascular diseases. The aim of this study was to evaluate the clinical importance of pentraxin-3 levels in PCOS patients. Methods: Forty-five female patients diagnosed with PCOS according to the 2003 Rotterdam criteria and 42 healthy women were included in the study. All women studied were tested within 3 and 5 days of their menstrual cycle. Ultrasonographic evaluation of each patient was first conducted using the suprapubic method. Serum PTX-3, endothelin 1 (ET-1), vascular cell adhesion molecule 1 (VCAM-1), intercellular adhesion molecule 1 (ICAM-1), and nitric oxide levels were measured using the enzyme-linked immunosorbent assay method. Results: Pentraxine-3 (PTX-3) levels in the patient group were significantly lower than those in the control group (p < 0.05). PTX-3 levels in the group with hirsutism were significantly higher than those in the nonhirsutism group (p < 0.05). Homeostatic model assessment for IR (HOMA-IR) levels in the patient group were significantly higher than those in the control group (p < 0.01). A weak negative correlation was found between PTX-3 and HbA1c levels. The accuracy rate of the PTX-3 test in distinguishing patients and nonpatients was moderate with a 0.634 area-under-the-curve value. Conclusions: During the follow-up of patients with PCOS, a decrease in serum PTX-3 levels associated with hirsutism and IR may be observed.
背景:多囊卵巢综合征(PCOS)通常与胰岛素抵抗(IR)、高胰岛素血症和血脂异常有关,它们在内皮功能障碍的发展中发挥作用,并促进心血管疾病的早期发病。本研究的目的是评估在多囊卵巢综合征患者中五唑菌素-3水平的临床重要性。方法:根据2003年鹿特丹标准诊断为多囊卵巢综合征的45名女性患者和42名健康女性纳入研究。所有被研究的女性都在月经周期的3天和5天内接受了测试。首先使用耻骨上法对每位患者进行超声评估。采用酶联免疫吸附测定法测定血清PTX-3、内皮素1(ET-1)、血管细胞粘附分子1(VCAM-1)、细胞间粘附分子-1(ICAM-1)和一氧化氮水平。结果:患者组的五甲状腺素-3(PTX-3)水平显著低于对照组(p<0.05)。多毛症组的PTX-3水平显著高于非多毛症组(p<0.05)。患者组的IR稳态模型评估(HOMA-IR)水平显著高于对照组(p<0.01)PTX-3与HbA1c水平呈负相关。PTX-3测试在区分患者和非患者方面的准确率中等,曲线下面积值为0.634。结论:在PCOS患者的随访过程中,可能观察到血清PTX-3水平的下降与多毛症和IR有关。
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Clinical and experimental obstetrics & gynecology
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