Congenital Abnormalities

先天性异常
  • 文章类型: Case Reports
    子宫是女性生殖道的一种罕见的先天性异常,其特征是子宫颈和身体分开。它是由于准肾气(Mülerian)导管的异常发育而发生的。在几种动物物种中已经报道了不同形式的子宫didelphys,包括牛,马,Ewe,山羊,猪,婊子。然而,以前没有报告记录了骆驼中完全分裂的女性生殖道。此外,缺乏关于动物这种异常的文献。因此,本研究报告,第一次,一种罕见的女性生殖道完全分裂的病例。此外,综述了现有的关于不同动物种类的子宫didelphys的相关文献。
    骆驼的雌性生殖道,大约10岁,有以前成功怀孕的历史,在动物被宰杀后被带到解剖学部门。初步检查显示由两个卵巢组成的正常生殖道,两个输卵管,子宫,还有一个阴道.仔细检查发现阴道完全分裂,阴道的每个部分都有一个外部的操作系统,还有一个分开的子宫体和子宫颈。通过一个外部口在子宫内输注生理盐水,证实子宫体和子宫颈完全分离。
    对于作者的知识,这是第一例报告的雌性生殖道完全分裂的病例。这篇综述总结了先前关于农场动物子宫双子宫的报道。
    UNASSIGNED: Uterus didelphys is a rare congenital anomaly of the female reproductive tract characterized by a divided uterine cervix and body. It occurs due to abnormal development of the paramesonephric (Müllerian) duct. Different forms of uterus didelphys have been reported in several animal species, including bovine, equine, ewe, goat, swine, and bitch. However, there is no previous report that has documented a completely divided female genital tract in she-camel. Moreover, there is a lack of literature regarding this anomaly in animals. Therefore, the present study reports, for the first time, a rare case of a completely divided female genital tract in a she-camel. In addition, the existing relevant literature on uterus didelphys in different animal species is reviewed.
    UNASSIGNED: A female reproductive tract of she-camel, approximately 10 years old, with a history of previous successful pregnancy, was brought to the anatomy department following the slaughtering of the animal. Initial examination revealed a normal reproductive tract consisting of two ovaries, two fallopian tubes, a uterus, and a vagina. A closer examination revealed a completely divided vagina, with an external os opened into each part of the vagina, as well as a divided uterine body and cervix. Intrauterine infusion of saline through one external os confirmed complete separation of uterine body and cervix.
    UNASSIGNED: To the authors\' knowledge, this is the first reported case of a completely divided female genital tract in a she-camel. This review summarizes the previous reports about uterus didelphys in farm animals.
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  • 文章类型: Journal Article
    目的:本荟萃分析旨在全面评估妊娠期间服用米非司酮和/或米索前列醇后继续妊娠对后代的致畸风险。
    方法:我们对多个数据库进行了系统搜索,包括PubMed,WebofScience,Embase,科克伦,CNKI,和CBM,从成立到2024年2月,没有语言限制。我们纳入了队列和病例对照研究,分析了米非司酮和/或米索前列醇对胎儿和新生儿的致畸作用。使用纽卡斯尔-渥太华量表(NOS)进行质量评估。使用荟萃分析将来自各个研究的优势比(OR)进行组合。进行敏感性测试和异质性分析。
    结果:共有13项研究符合纳入条件,包括5193例先天性畸形和12232例对照。
    结论:我们的研究结果表明,在妊娠早期使用米索前列醇增加了后代先天性畸形的风险(OR=2.69;95%CI:1.57-4.62)。然而,不能排除米非司酮在怀孕期间的潜在致畸作用。此外,米非司酮和/或米索前列醇的使用与某些先天性异常的高风险有关,如脑积水(OR=3.41;95%CI:1.17-9.97),莫比乌斯综合征(OR=26.48;95%CI:11.30-62.01),和末端横肢缺损(OR=10.75;95%CI:3.93-29.41)。(PROSPERO,CRD42024522093,03182024)。
    OBJECTIVE: This meta-analysis aimed to comprehensively assess the teratogenic risk to offspring associated with continuing pregnancy after administering mifepristone and/or misoprostol during gestation.
    METHODS: We conducted a systematic search of multiple databases, including PubMed, Web of Science, Embase, Cochrane, CNKI, and CBM, from their inception to February 2024, with no language restrictions. We included cohort and case-control studies that analyzed the teratogenic effects of mifepristone and/or misoprostol on fetuses and newborns. Quality assessment was performed using the Newcastle-Ottawa Scale (NOS). The odds ratios (OR) from individual studies were combined using meta-analysis. Sensitivity testing and heterogeneity analysis were conducted.
    RESULTS: A total of 13 studies were eligible for inclusion, comprising 5193 cases of congenital malformations and 12,232 controls.
    CONCLUSIONS: Our findings indicated that the use of misoprostol during early pregnancy increased the risk of congenital abnormalities in offspring (OR = 2.69; 95% CI: 1.57-4.62). However, the potential teratogenic effect of mifepristone during pregnancy cannot be ruled out. Additionally, the use of mifepristone and/or misoprostol has been linked to a higher risk of certain congenital anomalies, such as hydrocephalus (OR = 3.41; 95% CI: 1.17-9.97), Möbius syndrome (OR = 26.48; 95% CI: 11.30-62.01), and terminal transverse limb defects (OR = 10.75; 95% CI: 3.93-29.41). (PROSPERO, CRD42024522093, 03182024).
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  • 文章类型: English Abstract
    Birth defect and perinatal death are major public issues threatening the health of women and children in China. However, perinatal death attributed to birth defects has not yet received sufficient attention. To minimize the occurrence of perinatal death caused by birth defects, this review article deeply analyzed the current status of epidemiology, clinical, and basic research on perinatal death attributed to birth defects both domestically and internationally, and proposed to encourage the conduct of national research on perinatal causes. We should also pay attention to the application of the perinatal cause of death classification system, and focus on accurate diagnosis and the three-level prevention and control of perinatal death attributed to birth defect.
    出生缺陷与围产儿死亡是威胁我国妇幼健康的重大公共卫生问题,但归因于出生缺陷的围产儿死亡尚未得到重视。为减少因出生缺陷导致的围产儿死亡的发生,本文通过深度解析国内外归因于出生缺陷的围产儿死亡的流行病学、临床和基础研究现状,提出应鼓励开展全国性围产儿死因监测的研究,重视围产儿死因分类系统的推广应用,聚焦归因于出生缺陷的围产儿死亡的精准诊断,同时,重视因出生缺陷导致的围产儿死亡的三级预防。.
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  • 文章类型: Journal Article
    脐带在胎儿-母体界面处形成胎儿和胎盘之间的连接,通常包括两个脐动脉和一个脐静脉。在某些情况下,仅存在单个脐动脉(SUA)。进行这项研究是为了评估SUA与围产期尸检中发现的其他先天性畸形之间的关联,并确定SUA与某些异常之间是否存在优先关联。
    我们评估了从2013年到2022年的10年间送往病理科进行尸检的所有胎儿的记录(n=1,277)。数据来自医院的病理实验室记录。先天性异常按器官或系统分组进行分析,包括心血管疾病,泌尿道,神经系统,胃肠道,肌肉骨骼,和肺部异常.
    8.61%的尸检中存在SUA。受影响胎儿的胎龄在13至40周之间。在44例(3.4%)中,SUA表现为孤立的单个异常。在110例SUA案件中,60%有其他先天性异常。出生缺陷与SUAs之间存在显着关联(p<.001)。SUA和泌尿道之间有很强的关联,肺,并观察到肌肉骨骼异常。
    SUA通常与其他先天性畸形有关,而不是孤立的缺陷。因此,必须在产前或产后检测到SUA时检查相关异常。这项研究的结果应该有助于在SUA病例中为准妈妈及其家人提供咨询。
    UNASSIGNED: The umbilical cord forms the connection between the fetus and the placenta at the feto-maternal interface and normally comprises two umbilical arteries and one umbilical vein. In some cases, only a single umbilical artery (SUA) is present. This study was conducted to evaluate associations between SUA and other congenital malformations discovered in perinatal autopsies and to ascertain the existence of preferential associations between SUA and certain anomalies.
    UNASSIGNED: We evaluated records of all fetuses sent for autopsy to the Department of Pathology during the 10-year period from 2013 through 2022 (n = 1,277). The data were obtained from the hospital\'s pathology laboratory records. The congenital anomalies were grouped by organ or system for analysis and included cardiovascular, urinary tract, nervous system, gastrointestinal tract, musculoskeletal, and lung anomalies.
    UNASSIGNED: A SUA was present in 8.61% of the autopsies. The gestational age of the affected fetuses ranged between 13 to 40 weeks. An SUA presented as an isolated single anomaly in 44 cases (3.4%). Of the 110 SUA cases, 60% had other congenital anomalies. There was a significant association between birth defects and SUAs (p < .001). Strong associations between SUA and urinary tract, lung, and musculoskeletal anomalies were observed.
    UNASSIGNED: A SUA is usually seen in association with other congenital malformations rather than as an isolated defect. Therefore, examination for associated anomalies when an SUA is detected either antenatally or postnatally is imperative. The findings of this study should be helpful in counseling expectant mothers and their families in cases of SUA.
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  • 文章类型: Journal Article
    背景:新的证据表明,新生儿筛查分析物可能会产生对出生缺陷病因的见解,然而,目前尚未对一系列新生儿筛查分析物与出生缺陷之间的关联进行评估.
    方法:这项基于人群的研究汇集了全州出生缺陷的数据,出生证明,以及2007年1月1日至2009年12月31日期间来自德克萨斯州的新生儿筛查分析物。一组36种新生儿筛查分析物之间的关联,由全州德克萨斯州新生儿筛查计划收集,以及出生缺陷的存在,定义为德克萨斯州出生缺陷登记处记录的39项出生缺陷诊断中的至少一项,使用回归分析进行评估。
    结果:在确定的27,643名新生儿中,20,205有至少一个由得克萨斯州出生缺陷登记处确定的39个出生缺陷(案例),而7,438没有出生缺陷(对照)。在评估的1,404分析物-出生缺陷关联中,377在复制分析中是显著的。与出生缺陷最相关的分析包括苯丙氨酸/酪氨酸比率(N=29出生缺陷),酪氨酸(N=28出生缺陷),和甲状腺素(N=25出生缺陷)。出生缺陷最常与一系列分析物相关,包括腹裂(N=29分析物),几种心血管缺陷(N=26种分析物),和脊柱裂(N=23种分析物)。
    结论:在新生儿筛查分析物和出生缺陷之间观察到了一些显著和新颖的关联。虽然一些发现可能是缺陷本身或对有这些缺陷的婴儿提供的护理的后果,这些发现有助于阐明某些出生缺陷病因的潜在机制.
    BACKGROUND: Emerging evidence suggests newborn screening analytes may yield insights into the etiologies of birth defects, yet no effort has evaluated associations between a range of newborn screening analytes and birth defects.
    METHODS: This population-based study pooled statewide data on birth defects, birth certificates, and newborn screening analytes from Texas occurring between January 1, 2007 and December 31, 2009. Associations between a panel of thirty-six newborn screening analytes, collected by the statewide Texas Newborn Screening Program, and the presence of a birth defect, defined as at least one of 39 birth defects diagnoses recorded by the Texas Birth Defects Registry, were assessed using regression analysis.
    RESULTS: Of the 27,643 births identified, 20,205 had at least one of the 39 birth defects of interest (cases) as identified by the Texas Birth Defects Registry, while 7,438 did not have a birth defect (controls). Among 1,404 analyte-birth defect associations evaluated, 377 were significant in replication analysis. Analytes most consistently associated with birth defects included the phenylalanine/tyrosine ratio (N = 29 birth defects), tyrosine (N = 28 birth defects), and thyroxine (N = 25 birth defects). Birth defects most frequently associated with a range of analytes included gastroschisis (N = 29 analytes), several cardiovascular defects (N = 26 analytes), and spina bifida (N = 23 analytes).
    CONCLUSIONS: Several significant and novel associations were observed between newborn screening analytes and birth defects. While some findings could be consequences of the defects themselves or to the care provided to infants with these defects, these findings could help to elucidate mechanisms underlying the etiology of some birth defects.
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  • 文章类型: Journal Article
    先天性寨卡综合症(CZS)是印度的主要问题,突出了寨卡病毒(ZIKV)带来的多方面挑战。印度CZS病例的惊人增长,一种对公众健康和新生儿都有严重影响的疾病,引起了人们的关注。这项审查强调了通过研究流行病学来提高关注和认识以及采取预防措施的重要性,临床症状,以及CZS的潜在长期后果。该审查还有助于全球研究和信息共享,以增进对CZS的理解和预防。随着印度应对CZS不断变化的性质,这项彻底的审查是决策者的重要工具,卫生工作者,和研究人员了解现在正在发生的事情,计划未来做什么,作为一个团队一起工作,利用医学知识,社区参与,并研究保护新生儿健康和减少这些综合征对公共卫生的影响的项目。
    Congenital Zika syndrome (CZS) is a major concern in India and highlights the multifaceted challenges posed by the Zika virus (ZIKV). The alarming increase in CZS cases in India, a condition that has serious effects on both public health and newborns, has raised concerns. This review highlights the importance of raising concern and awareness and taking preventive measures by studying the epidemiology, clinical symptoms, and potential long-term consequences of CZS. The review also contributes to worldwide research and information sharing to improve the understanding and prevention of CZS. As India deals with the changing nature of CZS, this thorough review is an important tool for policymakers, health workers, and researchers to understand what is happening now, plan for what to do in the future, and work together as a team, using medical knowledge, community involvement, and study projects to protect newborns\' health and reduce the public health impact of these syndromes.
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  • 文章类型: Journal Article
    描述出生缺陷(包括广泛的特定缺陷)的胎儿死亡率,并探讨出生缺陷导致的胎儿死亡与广泛的人口统计学特征之间的关系。数据来自湖南省出生缺陷监测系统,中国,2016-2020。胎儿死亡是指胎儿在怀孕期间的任何时候在子宫内死亡,包括医疗终止妊娠。胎儿死亡率是指特定群体中每100例出生的胎儿死亡人数(包括活产和胎儿死亡)(单位:%)。采用对数二项式法计算95%置信区间(CI)的出生缺陷胎儿死亡率。计算粗比值比(ORs)以检查每个人口统计学特征与出生缺陷造成的胎儿死亡之间的关系。这项研究包括847,755名新生儿,和23,420出生缺陷被确定。共有11955例胎儿因出生缺陷死亡,胎儿死亡率为51.05%(95%CI50.13-51.96)。15.78%(1887例)因出生缺陷而死亡的胎儿在胎龄<20周,59.05%(7059例)的胎龄为20-27周,胎龄≥28周的占25.17%(3009例)。女性出生缺陷胎儿死亡率高于男性(OR=1.25,95%CI1.18-1.32),农村地区比城市地区(OR=1.43,95%CI1.36-1.50),在20-24岁的产妇中(OR=1.35,95%CI1.25-1.47),与25-29岁的产妇相比,≥35岁(OR=1.19,95%CI1.11-1.29),通过染色体分析诊断比超声(OR=6.24,95%CI5.15-7.55),多胎婴儿低于单胎婴儿(OR=0.41,95%CI0.36-0.47)。出生缺陷的胎儿死亡率随既往妊娠次数的增加而增加(χ2趋势=49.28,P<0.01)。并随既往分娩次数的增加而减少(χ2趋势=4318.91,P<0.01)。许多胎儿死亡与出生缺陷有关。我们发现了一些与出生缺陷胎儿死亡相关的人口统计学特征,这可能与出生缺陷的严重程度有关,经济和医疗条件,和父母对出生缺陷的态度。
    To describe the fetal death rate of birth defects (including a broad range of specific defects) and to explore the relationship between fetal deaths from birth defects and a broad range of demographic characteristics. Data was derived from the birth defects surveillance system in Hunan Province, China, 2016-2020. Fetal death refers to the intrauterine death of a fetus at any time during the pregnancy, including medical termination of pregnancy. Fetal death rate is the number of fetal deaths per 100 births (including live births and fetal deaths) in a specified group (unit: %). The fetal death rate of birth defects with 95% confidence intervals (CI) was calculated by the log-binomial method. Crude odds ratios (ORs) were calculated to examine the relationship between each demographic characteristic and fetal deaths from birth defects. This study included 847,755 births, and 23,420 birth defects were identified. A total of 11,955 fetal deaths from birth defects were identified, with a fetal death rate of 51.05% (95% CI 50.13-51.96). 15.78% (1887 cases) of fetal deaths from birth defects were at a gestational age of < 20 weeks, 59.05% (7059 cases) were at a gestational age of 20-27 weeks, and 25.17% (3009 cases) were at a gestational age of ≥ 28 weeks. Fetal death rate of birth defects was higher in females than in males (OR = 1.25, 95% CI 1.18-1.32), in rural than in urban areas (OR = 1.43, 95% CI 1.36-1.50), in maternal age 20-24 years (OR = 1.35, 95% CI 1.25-1.47), and ≥ 35 years (OR = 1.19, 95% CI 1.11-1.29) compared to maternal age of 25-29 years, in diagnosed by chromosomal analysis than ultrasound (OR = 6.24, 95% CI 5.15-7.55), and lower in multiple births than in singletons (OR = 0.41, 95% CI 0.36-0.47). The fetal death rate of birth defects increased with the number of previous pregnancies (χ2trend = 49.28, P < 0.01), and decreased with the number of previous deliveries (χ2trend = 4318.91, P < 0.01). Many fetal deaths were associated with birth defects. We found several demographic characteristics associated with fetal deaths from birth defects, which may be related to the severity of the birth defects, economic and medical conditions, and parental attitudes toward birth defects.
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  • 文章类型: Journal Article
    结肠重复构成一种罕见的先天性异常,特征在于存在表现出上皮衬里的肠壁的中空囊性或管状结构。由于其发病率低和表现为腹痛或便秘等非特异性症状,诊断挑战持续存在。导致不愿进行手术切除。由于结肠重复中的相关恶性肿瘤很少见,这些异常的固有恶性潜力仍未确定。此外,尽管有结肠重复相关恶性肿瘤的报道,文献中没有关于这些病例中的管状腺瘤的详细报道.该病例的组织学特征特别值得注意,位于癌前阶段,在结肠重复内潜在的腺癌进展。
    Colonic duplication constitutes a rare congenital anomaly, characterized by the presence of hollow cystic or tubular structures exhibiting an epithelial-lined intestinal wall. Diagnostic challenges persist due to its low incidence and manifestation of nonspecific symptoms such as abdominal pain or constipation, resulting in a reluctance to pursue surgical resection. As associated malignancies in colonic duplication are rare, the inherent malignant potential of these anomalies remains undetermined. Additionally, despite reported instances of associated malignancies in colonic duplication, there is an absence of reports in the literature detailing tubular adenoma within these cases. The histologic features of the presented case are particularly noteworthy, situated at the precancerous stage, intimating potential progression towards adenocarcinoma within colonic duplication.
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  • 文章类型: Journal Article
    脑面部静脉异型综合征(CVMS)是一种影响骨骼和软组织的复杂的低流量血管畸形,包括大脑,硬脑膜,和眼睛。我们显示了一个18个月大的男孩的CVMS图像,该男孩表现出面部静脉畸形,发育性静脉异常,硬脑膜窦畸形,大脑大静脉扩张,提示Galen动脉瘤畸形的静脉.尽管Sturge-Weber综合征是最著名的CVMS形式,它的表现是可变的,包括几种静脉畸形。认识到CVMS的各种表现形式对于充分筛查是必要的,治疗,和后续行动。
    Cerebrofacial venous metameric syndrome (CVMS) is a complex low-flow vascular malformation affecting bone and soft tissues, including brain, dura mater, and eye. We show images of CVMS in an 18-month-old boy presenting facial venous malformations, developmental venous anomalies, dural sinus malformations, and dilated great cerebral vein, suggesting a vein of Galen aneurysmal malformation. Although Sturge-Weber syndrome is the most known form of CVMS, its presentations are variable and include several venous malformations. Recognizing the various manifestations of CVMS is necessary for adequate screening, treatment, and follow-up.
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  • DOI:
    文章类型: Case Reports
    Mayer-Rokitansky-Kuster-Hauser(MRKH)综合征是一种罕见的先天性疾病,影响女性生殖系统,其特征是子宫和阴道不发达或缺失。一名十七岁未婚女性入住内分泌科,Mymensingh医学院附属医院,孟加拉国于2023年11月评估原发性闭经和控制不佳的糖尿病。她是第5期通过正常阴道分娩分娩的非近亲婚姻。她的成长模式和发展里程碑是正常的。她没有溢乳的病史,慢性或周期性盆腔疼痛,甲状腺功能异常,过度运动,精神病,或药物滥用。她的家人没有这种疾病的历史。两年前,她被诊断出患有糖尿病,没有经典症状,在那个时候,她的血糖为22mmol/L。给她开了二甲双胍和格列齐特的处方。她没有低血糖病史,高血糖危机,或入院。在检查中,她的身体和营养状况都正常。贫血,黄疸,水肿,脱水,淋巴结病,痤疮,多毛症,黑棘皮病,腹部纹和白癜风缺失。她的血压是110/70,没有姿势下降,甲状腺没有肿大,人体测量结果正常,BMI为18.4kg/m2.她的制革舞台是P5和B4。生殖器检查显示女性外生殖器正常,发现了一个盲目的阴道袋。其他全身检查未发现异常。在实验室报告中,她的血糖不受控制(HbA1c-10.2%),糖尿。甲状腺功能及性腺激素正常。腹部超声显示子宫,子宫颈,阴道上部不存在,还有左肾异位.
    Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare congenital disorder that affects the female reproductive system and is characterized by an underdeveloped or absent uterus and vagina. A 17-year-old unmarried female was admitted into the Department of Endocrinology, Mymensingh Medical College Hospital, Bangladesh in November 2023 for evaluation of primary amenorrhea and poorly controlled diabetes mellitus. She was the 5th issue of non-consanguineous marriage delivered at term by normal vaginal delivery. Her growth pattern and developmental milestones were normal. She had no history of galactorrhea, chronic or cyclic pelvic pain, thyroid dysfunction, excessive exercise, psychiatric illness, or drug abuse. There was no history of such type of illness in her family. She was diagnosed with diabetes mellitus two years back without classic symptoms, and at that time, her blood glucose was 22 mmol/L. She was prescribed metformin and gliclazide. She had no history of hypoglycemia, hyperglycemic crises, or hospital admission. On examination, her body build and nutritional status were normal. Anemia, jaundice, edema, dehydration, lymphadenopathy, acne, hirsutism, acanthosis nigricans, abdominal striae and vitiligo were absent. Her blood pressure was 110/70 without the postural drop, thyroid gland was not enlarged, anthropometric measurements were normal and BMI was 18.4 kg/m2. Her tanner stage was P5 & B4. Genital examination revealed normal female external genitalia, and a blind vaginal pouch was found. Other systemic examinations revealed no abnormality. On laboratory reports, her blood glucose was uncontrolled (HbA1c-10.2%) with glycosuria. Thyroid function test and gonadal hormones were normal. Ultrasonogram of the abdomen revealed uterus, cervix, and upper part of the vagina are absent, and an ectopic left kidney.
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