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Genetic detection of congenital heart disease 先天性心脏病的基因检测
Q4 Medicine Pub Date : 2022-09-01 DOI: 10.1016/j.gocm.2022.07.005
Sumathi I. Rachamadugu , Kristen A. Miller , Ina H. Lee , Ying S. Zou

Congenital heart disease (CHD) is the most common congenital anomaly and is an important cause of infant morbidity and mortality. Besides the epigenetic and environmental basis of CHD, genetics plays a central role in CHD pathogenesis. Traditional genetic testing strategies including conventional chromosome analysis, fluorescence in situ hybridization, and Sanger sequencing have largely focused on syndromic CHD or selected CHD phenotypes that are strongly associated with a particular genotype. The landscape of clinical genetic testing in CHD is rapidly evolving due to technical advances in genetic testing, including the identification of copy number variants by chromosomal microarray and nucleotide level alterations/variants by next-generation sequencing (NGS), which are essential to detect genetic causes of CHD and identify associations between genotypes and longitudinal clinical phenotypes. Whole-exome and whole-genome NGS not only reveal pathogenic variants in CHD genes, but also identify non-coding variants that influence the expression of CHD genes. Given the increasing availability and cost-effectiveness of clinical NGS to provide information on the causes of CHD and to detect incidental findings that are clinically actionable, the guidance of genetic counselors or experienced clinicians is essential. The identification of definitive causal CHD variants influences patient care and helps to inform the risk of recurrence, prenatal genetic counseling, and pre-implantation testing for the family of a CHD infant and adults with repaired/palliated CHD. Prenatally, circulating cell-free DNA screening as a non-invasive approach is available as early as 9 weeks of gestation and can screen for the common aneuploidies, which may underlie CHD. In this review, we present past and recent genetic testing in CHD based on our increased understanding of the pathogenesis of CHD along with current challenges with the interpretation of de novo genetic variants. Identification of a genetic diagnosis can help to predict and potentially improve clinical outcomes in CHD patients.

先天性心脏病(CHD)是最常见的先天性异常,是婴儿发病和死亡的重要原因。除了表观遗传和环境因素外,遗传因素在冠心病发病中也起着重要作用。传统的基因检测策略,包括传统的染色体分析、荧光原位杂交和Sanger测序,主要集中在综合征型冠心病或与特定基因型密切相关的特定冠心病表型上。由于基因检测技术的进步,包括通过染色体微阵列鉴定拷贝数变异和通过下一代测序(NGS)鉴定核苷酸水平改变/变异,冠心病临床基因检测的前景正在迅速发展,这对于检测冠心病的遗传原因和确定基因型与纵向临床表型之间的关联至关重要。全外显子组和全基因组NGS不仅揭示了冠心病基因的致病变异,还发现了影响冠心病基因表达的非编码变异。鉴于临床NGS在提供冠心病病因信息和发现临床可操作的偶然发现方面的可获得性和成本效益越来越高,遗传咨询师或经验丰富的临床医生的指导至关重要。明确的CHD变异影响患者护理,并有助于告知复发风险,产前遗传咨询,以及CHD婴儿和成人修复/缓解的CHD家庭的植入前检查。在产前,循环无细胞DNA筛查作为一种非侵入性方法,早在妊娠9周就可以使用,可以筛查常见的非整倍体,这可能是冠心病的基础。在这篇综述中,我们介绍了过去和最近的冠心病基因检测,基于我们对冠心病发病机制的不断了解,以及目前对新生遗传变异的解释所面临的挑战。确定基因诊断有助于预测和潜在地改善冠心病患者的临床结果。
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引用次数: 0
Intimate hygiene practices and reproductive tract infections: A systematic review 亲密卫生习惯与生殖道感染:系统综述
Q4 Medicine Pub Date : 2022-09-01 DOI: 10.1016/j.gocm.2022.06.001
Alaa Daher , Obey Albaini , Lauren Siff , Stephanie Farah , Karl Jallad

Introduction

Worldwide, women perform a variety of vaginal practices to enhance their intimate hygiene and sexual health.

Objective

To conduct a systematic review to assess the different kinds of intimate hygiene practices and their association with reproductive tract infections and complications.

Methods

PubMed, Medline and The Cochrane Library were used. Both observational and interventional studies targeting the urogenital infections and their association with hygiene practices were included. Exclusion criteria included studies that assessed the knowledge and attitudes towards intimate hygiene practices rather than their relation to infections. The design of this systematic review complied with the guidelines of the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA).

Results

Fifteen articles were included. Intravaginal practices were found to be associated with reproductive tract infections. Reusable absorbent material used during menstruation increased the risk of Candida infection with an adjusted proportional reported ratio (aPRR) of 1.54 (95% CI 1.2–2.0), but no association with bacterial vaginosis or trichomonas vaginalis infection was noted. Bathing or vaginal washing during menstruation with water only showed a higher association with symptoms of urogenital infections when compared with washing with both soap and water during menstruation. Drying reusable pads inside the house and storing them inside the toilet was found to be associated with a higher candida infection prevalence. Moreover, bathing in sitting position during menstruation, not drying the genital area or using cloth for drying it, and not paying attention to hand washing, were all associated with a higher risk of genital infections. Finally, postpartum use of native homemade vaginal preparations might be a risk factor for ascending vaginal infections, and the use of inappropriate material for menstrual blood absorption was associated with secondary infertility.

Conclusion

Several hygiene practices put women at higher risk for reproductive tract infections. We should continue to increase awareness to counter the misinformation resulting from marketing campaigns and common misconceptions.

在世界范围内,妇女进行各种阴道实践,以加强其亲密卫生和性健康。目的对不同类型的亲密卫生习惯及其与生殖道感染和并发症的关系进行系统评价。方法采用spubmed、Medline和Cochrane Library。包括针对泌尿生殖系统感染及其与卫生习惯的关系的观察性和干预性研究。排除标准包括评估对亲密卫生习惯的知识和态度,而不是评估其与感染的关系的研究。本系统评价的设计符合系统评价和荟萃分析首选报告项目(PRISMA)的指导原则。结果共纳入文献15篇。阴道内操作被发现与生殖道感染有关。月经期间使用可重复使用的吸收材料增加了念珠菌感染的风险,调整比例报告比(aPRR)为1.54 (95% CI 1.2-2.0),但与细菌性阴道病或阴道毛滴虫感染没有关联。与在月经期间同时用肥皂和水清洗相比,在月经期间用水洗澡或阴道清洗与泌尿生殖系统感染症状的相关性更高。研究发现,在室内晾晒可重复使用的卫生巾并将其存放在厕所内与较高的念珠菌感染率有关。此外,月经期间坐着洗澡,不擦干生殖器部位或用布擦干,不注意洗手,都与生殖器感染的风险增加有关。最后,产后使用本地自制阴道制剂可能是阴道感染上升的危险因素,使用不适当的经血吸收材料与继发性不孕症有关。结论一些卫生习惯使妇女生殖道感染的危险性增高。我们应该继续提高意识,以应对营销活动和常见误解造成的错误信息。
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引用次数: 1
Persistent interstitial pregnancy diagnosed after two unsuccessful attempts of clandestine abortion: A case report and literature review 两次秘密流产失败后诊断为持续性间质性妊娠:病例报告和文献综述
Q4 Medicine Pub Date : 2022-09-01 DOI: 10.1016/j.gocm.2022.04.007
Landry W. Tchuenkam , Anicet FN. NGate , Joel Noutakdie Tochie , Fetsus T. Wirwah , Flobert Titcheu , Axel S. Nwaha Makon
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引用次数: 0
Analysis of risk factors related to severe postpartum hemorrhage of twin pregnancies delivered by cesarean section 剖宫产双胎严重产后出血的相关危险因素分析
Q4 Medicine Pub Date : 2022-09-01 DOI: 10.1016/j.gocm.2022.07.002
Fufen Yin , Ruixue Li , Junshu Xie , Xiaohong Zhang

Objective

To investigate the risk factors of severe postpartum hemorrhage (PPH) in cesarean section of twin pregnancy, and to provide clinical basis for pregnancy management and perioperative obstetric management of twin pregnancy.

Methods

The clinical data of 631 twin pregnancies with gestational age ≥28 weeks delivered by cesarean section at Peking University People's Hospital (PKUPH) from January 2004 to January 2017 were retrospectively analyzed. Methods of conception, the combined weight of twins, serum albumin level before cesarean section, operation time and other factors on the amount of blood loss during cesarean section were analyzed.

Results

The proportion of severe PPH was significantly higher in in vitro fertilization-embryo transfer (IVF-ET) group, the combined weight of twins > 6000g group, serum albumin before cesarean section < 30 ​g/dl group than in the natural pregnancy group, 4000–6000g group, < 4000g group and serum albumin ≥30 ​g/dl group respectively (P ​< ​0.05). The proportion of severe PPH in the elective surgery group of twin pregnancy was higher than that in the emergency surgery group, but the difference was not statistically significant (P ​> ​0.05). Moreover, according to the surgical indications, the emergency surgery group was divided into premature rupture of membranes (PROM), labor, fetal distress and others groups, no significant difference were detected among these groups (P>0.05).

Conclusion

IVF-ET, the combined weight of twins, serum albumin before operation were significantly correlated with severe PPH of twin pregnancies delivered by cesarean section, revealing that it is necessary to strengthen pregnancy management of twin pregnancy.

目的探讨双胎妊娠剖宫产术中发生重度产后出血(PPH)的危险因素,为双胎妊娠的妊娠管理及围手术期产科管理提供临床依据。方法回顾性分析2004年1月至2017年1月北京大学人民医院剖宫产术中631例胎龄≥28周的双胎妊娠的临床资料。分析妊娠方式、双生儿总体重、剖宫产前血清白蛋白水平、手术时间等因素对剖宫产出血量的影响。结果体外受精-胚胎移植(IVF-ET)组发生重度PPH的比例显著高于对照组,双胞胎总体重与对照组相比显著高于对照组;6000g组,剖宫产前血清白蛋白;30 g/dl组较自然妊娠组、4000 ~ 6000g组、<4000g组和血清白蛋白≥30g /dl组(P <0.05)。双胎妊娠择期手术组重度PPH比例高于急诊手术组,但差异无统计学意义(P >0.05)。急诊手术组根据手术指征分为胎膜早破(PROM)组、产程组、胎儿窘迫组等,各组间差异无统计学意义(P>0.05)。结论ivf - et、双胞胎总体重、术前血清白蛋白与剖宫产双胎妊娠重度PPH有显著相关,提示加强双胎妊娠管理是必要的。
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引用次数: 0
Gender based violence 性别暴力
Q4 Medicine Pub Date : 2022-09-01 DOI: 10.1016/j.gocm.2022.07.004
Usama Shahid , Ajay Rane
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引用次数: 0
Proximal-type epithelioid sarcoma of the vulva initially misdiagnosed as Bartholin cyst: A case report 外阴近端型上皮样肉瘤最初误诊为前庭大腺囊肿1例
Q4 Medicine Pub Date : 2022-09-01 DOI: 10.1016/j.gocm.2022.07.006
Rafael Everton Assunção Ribeiro da Costa , Luis Felipe Rodrigues Brandão de Barros , Raimundo Gerônimo da Silva Júnior , Eugênio de Sá Coutinho Neto , Eid Gonçalves Coelho , Carlos Eduardo Coelho de Sá
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引用次数: 0
Influence of previous laparoscopic surgical and pathological diagnosis of endometriosis on pregnancy outcomes in women with adenomyosis 子宫内膜异位症腹腔镜手术和病理诊断对子宫腺肌病患者妊娠结局的影响
Q4 Medicine Pub Date : 2022-09-01 DOI: 10.1016/j.gocm.2022.07.001
Zhao Tian , Jin Lai , Qing-Jie Zhai , Yi Li , Yue Wang , Xiao-Hong Chang , Hong-Lan Zhu , Heng Cui

Objectives

Previous studies demonstrated that endometriosis and adenomyosis are closely linked to lots of adverse pregnancy outcomes while the role of endometriosis in pregnant women with adenomyosis has not been explored yet. The present study aimed to evaluate the influence of previous laparoscopic surgical and pathological diagnosis of endometriosis on pregnancy outcomes in women with adenomyosis.

Methods

A total of 60 pregnant women who were diagnosed with adenomyosis before or during pregnancy were included in this study. Among them, 8 were also diagnosed with endometriosis by previous laparoscopic surgery. The demographic characteristics and pregnancy outcomes were compared between women with adenomyosis only and those with the surgical history of endometriosis.

Results

Compared with women with adenomyosis only, those concomitant with the surgical history of endometriosis had significantly higher age at delivery [37.5(36.25–39.75) vs. 35(33.25–37), P ​= ​0.016] and an increased risk of postpartum hemorrhage (PPH) (adjusted OR: 5.992, 95% CI: 1.03–34.857, P ​= ​0.046) while no significant differences were found in other adverse pregnancy outcomes between these two groups. Then we further detected the risk factor of PPH in women with adenomyosis and found that the surgical history of endometriosis (OR: 6.995, 95% CI: 1.16–42.171, P ​= ​0.034) and assisted reproductive technology (ART) (OR: 5.062, 95% CI: 1.494–17.146, P ​= ​0.009) were the parameters closely associated with the occurrence of PPH.

Conclusions

The history of previous laparoscopic surgical and pathological diagnosis of endometriosis in pregnant women with adenomyosis may increase the risk of PPH, which still needs to be verified by future studies with a large sample size. Besides, pregnancy through ART is also an increased risk factor for PPH in women with adenomyosis. Pregnant women with adenomyosis who conceived with the surgical history of endometriosis or by ART should be closely monitored for the reason of being at high risk of PPH.

目的以往的研究表明,子宫内膜异位症和子宫腺肌症与许多不良妊娠结局密切相关,但尚未探讨子宫内膜异位症在子宫腺肌症孕妇中的作用。本研究旨在评估以往腹腔镜手术和病理诊断子宫内膜异位症对子宫腺肌症妇女妊娠结局的影响。方法本研究共纳入60例孕前或孕期诊断为子宫腺肌症的孕妇。其中8例既往腹腔镜手术诊断为子宫内膜异位症。比较了仅有子宫腺肌症和有子宫内膜异位症手术史的妇女的人口统计学特征和妊娠结局。结果合并子宫内膜异位症的分娩年龄(37.5(36.25-39.75)vs. 35(33.25-37), P = 0.016)明显高于单纯子宫内膜异位症患者,产后出血(PPH)风险增加(调整OR: 5.992, 95% CI: 1.03-34.857, P = 0.046),其他不良妊娠结局两组间差异无统计学意义。进一步检测子宫腺肌症女性PPH的危险因素,发现子宫内膜异位症手术史(OR: 6.995, 95% CI: 1.16 ~ 42.171, P = 0.034)和辅助生殖技术(OR: 5.062, 95% CI: 1.494 ~ 17.146, P = 0.009)是与PPH发生密切相关的参数。结论子宫腺肌症孕妇既往腹腔镜手术史及子宫内膜异位症的病理诊断可能会增加PPH的发生风险,这有待于未来大样本量的研究证实。此外,通过抗逆转录病毒治疗怀孕也是bbb妇女PPH风险增加的因素。有子宫内膜异位症手术史或接受过抗逆转录病毒治疗的子宫腺肌症孕妇因其PPH风险高,应密切监测。
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引用次数: 1
COVID-19 vaccination in pregnancy: A review of maternal and infant benefits 妊娠期新冠肺炎疫苗接种:母婴益处综述
Q4 Medicine Pub Date : 2022-09-01 DOI: 10.1016/j.gocm.2022.07.003
Emmanuel Lamptey , Ephraim Kumi Senkyire , Moses Tia Banoya , Stanley Yaidoo

Pregnant women with COVID-19 are more likely to be admitted to the intensive care unit and their babies born prematurely. Clinical trials excluded pregnant women from the vaccine and safety data were limited. However, an increasing number of studies have demonstrated the safety and immunogenicity of the COVID-19 vaccines for pregnant women and their babies including evidence of maternal transfer of antibodies. In addition to these benefits, the vaccines are proved to be effective for both the pregnant women and infants. The current evidence supports the safety, immunogenicity of the COVID-19 vaccine and its effectiveness in reducing the theoretical risk of the infection among pregnant women and their infants. This review summarizes the recent data on the beneficial effects of COVID-19 immunization on both the pregnant mother and infant.

感染COVID-19的孕妇更有可能被送进重症监护病房,她们的婴儿更有可能早产。临床试验将孕妇排除在疫苗之外,安全性数据有限。然而,越来越多的研究证明了COVID-19疫苗对孕妇及其婴儿的安全性和免疫原性,包括母体转移抗体的证据。除了这些好处,疫苗被证明对孕妇和婴儿都有效。目前的证据支持COVID-19疫苗的安全性、免疫原性及其在降低孕妇及其婴儿感染的理论风险方面的有效性。本文综述了关于COVID-19免疫对孕妇和婴儿有益影响的最新数据。
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引用次数: 2
Prenatal ultrasonographic characteristics and prognosis of isolated redundant foramen ovale flap 孤立卵圆孔多余瓣的产前超声特征及预后
Q4 Medicine Pub Date : 2022-09-01 DOI: 10.1016/j.gocm.2022.08.002
Yuntao Li, Qiuyan Pei, Zhenjuan Yang, Yani Yan, Xiaowei Xue

Objective

To analyze the prenatal ultrasonographic characteristics and prognosis of the isolated redundant foramen ovale flap (RFOF).

Methods

From January 2014 to December 2021, we collected data on fetal echocardiography analyses and perinatal outcomes for fetuses with isolated RFOF in Peking University People's Hospital.

Results

We found that 0.31% (87/28308) of participants have RFOF. The four-chamber results of the foramen ovale flap (FOF) showed that it was stiff and extended >50% or reached the lateral wall of the left atrium (LA) in diastole. As seen from the foramen ovale(FO) channel and four-chamber views, the hypermobile and redundant flap were observed shrinking and stretching with the fetal cardiac cycle, which is similar to jellyfish. The lateral displacement of flow from LA to the left ventricle (LV) around the FOF on color doppler demonstrated thin linear blood flow from the right to left and a reversal of flow across FO. A uniphasic, but not biphasic, pattern of FOF displacement was observed on M-mode. Stages I (23/87) and II (51/87) had a higher ratio of ventricular disproportion than Stage 0 (11/87) and III (2/87). We observed the RA/LA (right/left atrium) ​> ​1.2 in 53 cases (60.9%), RV/LV (right/left ventricle) ​> ​1.2 in 53 cases (60.9%), PA/AO (pulmonary/aortic artery) ​> ​1.2 in 53 cases (60.9%), and moderate or severe tricuspid regurgitation in 10 cases and moderate pericardial effusion in 2 cases (2.2%). Seventy-four RFOF cases had follow-up data. Neonatal death occurred in 2 cases; 72 fetuses survived with normal or minor heart defects.

Conclusion

RFOF should be considered if the left side of the heart of a fetus is smaller and related to hypermobile FOF. For isolated RFOF cases, a monthly follow-up is recommended to monitor arrhythmia or fetal hydrop status. Prompt treatment is recommended for those with adequate gestational age and lung maturity.

目的分析孤立性卵圆孔皮瓣(RFOF)的产前超声特征及预后。方法收集2014年1月至2021年12月北京大学人民医院孤立性RFOF胎儿超声心动图分析及围产期结局资料。结果0.31%(87/28308)的参与者有RFOF。卵圆孔瓣(FOF)的四腔结果显示,在舒张期,FOF是僵硬的,伸展了50%或到达左心房侧壁(LA)。卵圆孔(FO)通道和四腔位图显示,过度活动和多余的皮瓣随胎儿心脏周期收缩和伸展,与水母相似。彩色多普勒显示左心室(LV)血流在FOF周围的横向位移显示从右到左的细线性血流和穿过左心室的血流逆转。在m模式下观察到FOF位移是单相的,而不是双相的。I期(23/87)和II期(51/87)的心室比例失调率高于0期(11/87)和III期(2/87)。我们观察RA/LA(右/左心房)>53例中1.2例(60.9%),RV/LV(右/左心室)>53例中1.2例(60.9%),PA/AO(肺/主动脉)>1.2例53例(60.9%),中度或重度三尖瓣反流10例,中度心包积液2例(2.2%)。74例RFOF有随访数据。新生儿死亡2例;72名胎儿存活下来,有正常或轻微的心脏缺陷。结论胎儿左心偏小且与胎心过度活动有关,应考虑胎心过度活动。对于孤立的RFOF病例,建议每月随访一次,监测心律失常或胎儿水肿状况。对于那些胎龄和肺成熟度足够的人,建议及时治疗。
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引用次数: 0
Clinical diagnosis and treatment of “atypical” HELLP syndrome “非典型”HELLP综合征的临床诊断与治疗
Q4 Medicine Pub Date : 2022-09-01 DOI: 10.1016/j.gocm.2022.08.001
Ying-dong He, Hui-xia Yang

HELLP syndrome is regarded as one of the most serious manifestations of preeclampsia, but approximately 15% of patients with HELLP syndrome have no clinical manifestations of preeclampsia; furthermore, although most cases of HELLP syndrome occur after 34 weeks, some cases occur at a much earlier gestational stage, even before 20 weeks of gestation, the underlying pathogenesis of “atypical” HELLP syndrome with very early onset or the basis of non-preeclampsia manifestations should be more actively explored. Obstetricians should carefully identify the potential etiology of “atypical” HELLP syndrome in order to provide a reasonable treatment and improve maternal and fetal prognosis.

HELLP综合征被认为是子痫前期最严重的表现之一,但约15%的HELLP综合征患者没有子痫前期的临床表现;此外,尽管大多数HELLP综合征发生在34周后,但也有一些病例发生在更早的妊娠阶段,甚至在妊娠20周之前,因此应更积极地探索发病很早的“非典型”HELLP综合征的潜在发病机制或非子痫前期表现的基础。产科医生应仔细鉴别“非典型”HELLP综合征的潜在病因,以便提供合理的治疗,改善母胎预后。
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引用次数: 0
期刊
Gynecology and Obstetrics Clinical Medicine
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