Congenital defects

先天性缺陷
  • 文章类型: Journal Article
    先前文献描述了先兆子痫与后代先天性心脏病(CHD)之间的关联。同时暗示与早期先兆子痫的个体之间可能存在更强的关系。
    作者试图在一项基于人群的研究中探索后代冠心病与先兆子痫之间的关系。
    回顾性队列研究在加利福尼亚州2000年至2012年分娩的所有单胎妊娠。我们纳入了胎龄为23至42周的单胎分娩,并排除了先前存在的糖尿病或确定的胎儿染色体异常的妊娠。我们使用多变量逻辑回归估计后代CHD和先兆子痫之间的相关性。进一步的子分析检查了分娩<34周和>34周的关系,以分析根据先兆子痫发展的时机是否存在差异。
    在同一妊娠中,子痫前期与后代冠心病密切相关(aOR:1.38;99%CI:1.29-1.49)。在索引妊娠的子痫前期患者中,在随后的妊娠中,胎儿CHD的风险增加(aOR:1.39;99%CI:1.20~1.61).在索引妊娠的后代冠心病患者中,随后妊娠发生先兆子痫的风险增加(aOR:1.39;99%CI:1.15~1.68).在所有3次分析中,在<34周和≥34周分层时,结果仍然显著.
    我们的研究结果表明,需要进一步研究先兆子痫的病因及其与心血管结构胚胎发育的关系。
    UNASSIGNED: Prior literature has described an association between preeclampsia and offspring congenital heart disease (CHD), while suggesting there may be a stronger relationship in individuals with early preeclampsia.
    UNASSIGNED: The authors sought to explore the relationship between offspring CHD and preeclampsia among pregnancies in a population-based study.
    UNASSIGNED: Retrospective cohort study all singleton pregnancies delivered in the state of California 2000 to 2012. We included singleton births with gestational ages of 23 to 42 weeks and excluded pregnancies complicated by pre-existing diabetes or identified fetal chromosomal anomalies. We used multivariable logistic regression to estimate ORs for associations between offspring CHD and preeclampsia. Further subanalyses examined the relationships in deliveries <34 weeks and >34 weeks to analyze if there was a difference according to timing of preeclampsia development.
    UNASSIGNED: Preeclampsia was strongly associated with offspring CHD (aOR: 1.38; 99% CI: 1.29-1.49) in the same pregnancy. Among patients with preeclampsia in the index pregnancy, there was an increased risk of fetal CHD in the subsequent pregnancy (aOR: 1.39; 99% CI: 1.20-1.61). Among patients with offspring CHD in the index pregnancy, there was an increased risk of preeclampsia in the subsequent pregnancy (aOR: 1.39; 99% CI: 1.15-1.68). In all 3 analyses, results remained significant when stratified by <34 weeks and ≥34 weeks.
    UNASSIGNED: Our findings suggest a need for further investigation into the etiology of preeclampsia and its relationship to embryologic development of cardiovascular structures.
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  • 文章类型: Journal Article
    Congenital limb defects occur when a limb does not develop normally during pregnancy. The quality of each person\'s everyday life is significantly impacted by any of these defects and there is no concrete treatment. 3D modeling and printing, enables the creation and customization of precise virtual and/or physical models, including models of the human anatomy. These technologies provide a novel method of producing new devices with optimized design and production time, improving adaptability, and incorporating functionality. To this end, we propose a method of designing and producing 3D printed assistive devices and we also present an example of an assistive device, done in the 3D Printing Center for Health, as well as its impact on the patient\'s daily life. With this device, the patient became able to play the guitar and hold a knife, thus helping on these two activities.
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  • 文章类型: Journal Article
    横向基底间隙(TBC)是枕骨的斜坡或基底部分的极其罕见的变异。在这份报告中,在一名18岁女性患者的头部计算机断层扫描中,在斜坡处发现了单侧横向基底动脉裂,该患者被诊断为半面微瘤(HFM)。该患者的图像分析显示右下颌骨支缩短,右颞下颌关节内侧移位和右上颌骨发育不良。此外,对斜坡的观察显示,右侧咽结节水平的基底和枕骨之间有裂隙。该裂口被鉴定为TBC。Clivalvariations,包括TBC,从未报道过归因于HFM。本报告提请注意斜坡异常发育与HFM综合征之间的复杂关系,并揭示了这两种情况之间可能的遗传和分子关联。
    Transverse basilar cleft (TBC) is an extremely rare variation of the clivus or the basilar part of the occipital bone. In this report, a unilateral transverse basilar fissure was found at the clivus in a head computed tomography of an 18-year-old female patient diagnosed with hemifacial microsomia (HFM). Image analysis of this patient showed shortening of the ramus of the right mandible along with medial displacement of the right temporomandibular joint and hypoplastic right maxilla. In addition, observation of the clivus showed a cleft between the basioticum and basioccipital bones at the level of the pharyngeal tubercle on the right side. This cleft was identified as TBC. Clival variations, TBC included, attributed to HFM have never been reported. This report draws attention to the complex relationship between abnormal development of clivus and HFM syndrome, and sheds light on a possible genetic and molecular association between these two conditions.
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  • 文章类型: Journal Article
    59名兽医从业人员使用手机应用程序收集了3年内全国分布的191头牛的病例史和图像。大多数病例是在春季产卵季节(57.6%)在多胎乳坝中记录的。在足月出生的单胎中,大多数小牛是在出生时或第一周内记录的(66.5%)。在大多数农场(75.9%),这是一年中,在大多数农场中记录到的唯一的先天性畸形牛,在过去的5年中没有记录到先天性畸形牛。大多数先天性缺陷(83.5%)记录在肌肉骨骼或消化系统中。最常见的三种个体缺陷是肠闭锁(24.1%),血吸虫反射(20.4%)和强直(6.8%);13.1%的病例记录了多种缺陷。这些发现突出显示了兽医从业人员参加的小牛肠闭锁和血吸虫反射的相对较高的患病率,这就需要采取预防措施。该项目突出了兽医应用程序的潜在好处,以检测地方病的变化趋势,或者小说的出现,先天性或其他条件。
    A mobile phone app was used by 59 veterinary practitioners to collect case histories and images of 191 cattle with congenital defects distributed nationally over a 3-year period. The majority of cases were recorded during the spring calving season (57.6%) in pluriparous dairy dams. The majority of calves were recorded at birth or within the first week (66.5%) in singletons born at full-term. On the majority of farms (75.9%), this was the only congenitally deformed bovine recorded up to that point in the year and on the majority of farms, there were no congenitally deformed cattle recorded in the previous 5 years. The majority of congenital defects (83.5%) were recorded in the musculoskeletal or digestive systems. The three most commonly recorded individual defects were intestinal atresia (24.1%), schistosomus reflexus (20.4%) and ankylosis (6.8%); multiple defects were recorded in 13.1% of cases. These findings highlight the relatively high prevalence of intestinal atresia and schistosomus reflexus in calves attended by veterinary practitioners, which warrants implementation of preventive measures. The project highlights the potential benefits of veterinary-practitioner apps to detect changing trends in endemic, or the emergence of novel, congenital or other conditions.
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  • 文章类型: Case Reports
    血吸虫反射(SR),小牛的一种不寻常的先天性缺陷,可以通过暴露的内脏和弯曲的脊柱以及向头部扭曲的后肢来诊断。SR通常与奶牛的难产和胎儿死亡有关。因此,养牛计划必须意识到这些异常,以避免异常造成的损失,不能存活的小牛.
    血吸虫反射(SR)是常染色体隐性遗传疾病引起的牛罕见且致命的先天性畸形。我们报告了异系Friesian母牛剖腹产后无法存活的小牛中的典型SR病例。它的特征是脊柱倒置和明显的腹侧弯曲,导致颅骨位于骶骨和尾巴附近,以及暴露的胸部和腹部内脏,肢体强直,舌头突出。牛的术后管理,连同结果,这里也有描述。
    UNASSIGNED: Schistosomus reflexus (SR), an unusual congenital defect in calves, can be diagnosed grossly by exposed viscera and curved spine with hindquarters twisted up toward the head. SR is typically associated with dystocia and fetal deaths in cows. Hence, cattle breeding programs must be aware of these anomalies to avoid losses from abnormal, non-viable calves.
    UNASSIGNED: Schistosomus reflexus (SR) is a rare and fatal congenital malformation in bovines from autosomal recessive disorders. We report a typical case of SR in a non-viable calf after the cesarean section of a crossbred Friesian cow. It was characterized by the inversion of the spinal column and a pronounced ventral curvature causing the cranium to be positioned near the sacrum and tail, along with exposed thoracic and abdominal viscera, limb ankylosis, and tongue protrusion. The postoperative management of the cow, along with the outcome, is also described here.
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  • 文章类型: Case Reports
    背景:Parapagusdiprosopus是以颅面重复和只有一个身体为特征的连体双胞胎,代表这些双胞胎中最稀有的类型之一。它们的发生已在不同物种的脊椎动物中记录,包括人类,但是在家猪身上研究的病例很少。
    方法:使用X射线对一对连体双猪进行了研究,计算机断层扫描,和尸检。将发现的异常与文献中出现的罕见猪病例以及其他物种进行了比较,并讨论了不同的病因可能。头骨的重复程度从尾下降,中枢神经系统的结构也是如此。在两个口腔中,有一个完整的腭裂。直到T3的所有颈椎和胸椎都部分重复。心脏和大血管都正常,其他胸部和腹部器官也是如此。
    结论:本研究的连体双猪是一例芦笋旁四眼三体,表现出人类diprosopus和其他物种异常的相同模式。缺乏关于猪颅面重复的详细研究以及对连体双胞胎的病因和发病机理缺乏明确的解释,这表明需要进一步研究和发表更多病例。
    Parapagus diprosopus are conjoined twins characterized by craniofacial duplication and only one body, representing one of the rarest types of these twins. Their occurrence has been recorded in different species of vertebrates, including humans, but few cases have been studied in domestic pigs.
    A pair of conjoined twin pigs was studied using x-rays, computed tomography, and necropsy. The abnormalities found were compared with those of the rare swine cases presented in the literature as well as with other species, and the different etiopathogenetic possibilities were addressed. The degree of duplication of the head bones decreased caudally, as did that of the structures of the central nervous system. In the two oral cavities, there was a complete cleft palate. All the cervical vertebrae and thoracic vertebrae up to T3 were partially duplicated. The heart and great vessels were normal, as were the other thoracic and abdominal organs.
    The conjoined twin pigs of this study are a case of parapagus diprosopus tetraophthalmus triotus, presenting the same pattern of abnormalities of human diprosopus and that of other species. The scarcity of detailed studies on craniofacial duplication in pigs and the lack of a definitive explanation on the etiology and pathogenesis of conjoined twins shows the need for further research and the publication of more cases.
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  • 文章类型: Journal Article
    背景:复杂的演示文稿,相关的合并症和多学科要求决定了对深入知识的要求,以便有效地管理唇腭裂(CLP)患者。我们旨在开发一份经过验证的问卷,用于唇腭裂知识评估,并评估一组最近毕业的牙医对唇腭裂的知识。
    方法:多站点,进行了基于横断面问卷的研究。研究人群包括参与牙科实习计划的最近毕业的牙医。制定并验证了定制问卷,使用Cronbach的α和因子分析评估内部一致性。将47个项目的原型提炼成15个项目的问卷。这分发给参与者,获得67%的应答率。
    结果:牙科实习生中正确反应的总体比例中等(73%)。与CLP治疗相关的最佳结果包括不良手术结果对言语的影响(89.5%)和CLP对闭塞的影响(87.6%)。与CLP和吸烟之间的关联相关,正确反应率最低(26.7%)。
    结论:开发了经过验证的CLP问卷,允许在最近毕业的牙医中评估唇裂和腭裂的知识及其管理。牙科实习生对CLP的危险因素以及手术后并发症的认识有限。鉴于普通牙医通常是治疗唇腭裂患者的看门人,重要的是,这项调查的结果被用来为唇腭裂的课程和教学提供信息。
    The complex presentation, associated co-morbidities and multi-disciplinary requirements dictate the requirement for in-depth knowledge in order to effectively manage patients with cleft lip and palate (CLP). We aimed to develop a validated questionnaire for cleft lip and palate knowledge assessment and to evaluate the knowledge of cleft lip and palate among a group of recently-graduated dentists.
    A multiple-site, cross-sectional questionnaire-based study was conducted. The study population included recently graduated dentists involved in a dental internship program. A bespoke questionnaire was developed and validated, with internal consistency assessed using Cronbach\'s alpha and factor analysis performed. A 47-item prototype was distilled into a 15-item questionnaire. This was distributed to the participants with a response rate of 67% obtained.
    The overall proportion of correct responses among dental interns was moderate (73%). The best results were found in relation to CLP treatment including the effect of unfavorable surgical outcomes on speech (89.5%) and the impact of CLP on the occlusion (87.6%). The lowest rate of correct responses (26.7%) was identified in relation to the association between CLP and smoking.
    A validated CLP questionnaire was developed, permitting evaluation of the knowledge of cleft lip and palate and its management among recently graduated dentists. There is limited appreciation among dental interns of the risk factors for CLP as well as post-surgical complications. Given that general dentists are often the gatekeepers for the management of patients with cleft lip and palate, it is important that the findings of this survey are used to inform the curriculum and teaching of cleft lip and palate.
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  • 文章类型: Journal Article
    目的:产妇吸入家用产品对胎儿健康的影响存在担忧。本研究旨在阐明母亲接触家用产品的影响,包括喷雾配方,关于1岁以下后代的泌尿系统异常。
    方法:本研究包括来自日本环境与儿童研究的84237名儿童的数据,正在进行的全国队列研究。使用产妇自我报告问卷,有关使用有机溶剂的信息,防水喷雾剂,驱虫喷雾剂,杀虫剂喷雾剂,从植入到妊娠中期或中期的除草剂,以及分娩后1年收集泌尿系统异常的数据。
    结果:799名婴儿发生泌尿系统异常。多因素logistic回归分析调整为产妇年龄,孕期体重指数,妊娠期糖尿病,预先存在的母亲肾脏疾病,早产表明,母体暴露于有机溶剂与后代泌尿系统异常的患病率之间没有关联。然而,我们观察到孕期使用防水喷雾剂与男孩泌尿系统异常(比值比[OR]:1.28,95%置信区间[CI]:1.03~1.59)以及孕期使用杀虫剂喷雾剂与女孩泌尿系统异常(OR:1.48,95%CI:0.98~2.22)之间存在显著关联.亚分析显示,怀孕期间使用防水喷雾剂与男孩膀胱输尿管反流之间存在显着关联(OR:2.14,95%CI:1.02-4.49),怀孕期间使用杀虫剂喷雾剂与女孩肾积水之间存在显着关联(OR:2.23,95%CI:1.11-4.47)。
    结论:怀孕期间使用喷雾制剂可能会增加后代泌尿系统异常的风险。
    Concerns exist regarding the effects of maternal inhalation of household products on fetal health. This study aimed to clarify the impact of maternal exposure to household products, including spray formulations, on urological anomalies in offspring up to the age of 1 year.
    This study included data from 84 237 children from the Japan Environment and Children\'s Study, an ongoing nationwide cohort study. Using maternal self-report questionnaires, information on the use of organic solvents, waterproof sprays, insect-repellent sprays, insecticide sprays, and herbicides from implantation until the second or third trimester of pregnancy and data on urological anomalies were collected 1 year after delivery.
    Urological anomalies occurred in 799 infants. Multivariate logistic regression analysis adjusted for maternal age, pregnancy body mass index, gestational diabetes, pre-existing maternal kidney disease, and preterm birth revealed no association between maternal exposure to organic solvents and the prevalence of offspring urological anomalies. Nevertheless, we observed significant associations between waterproof spray use during pregnancy and urological anomalies in boys (odds ratio [OR]: 1.28, 95% confidence interval [CI]: 1.03-1.59) and between the use of insecticide spray during pregnancy and urological anomalies in girls (OR: 1.48, 95% CI: 0.98-2.22). Sub-analysis revealed significant associations between waterproof spray use during pregnancy and vesicoureteral reflux in boys (OR: 2.14, 95% CI: 1.02-4.49) and between the use of insecticide spray during pregnancy and hydronephrosis in girls (OR: 2.23, 95% CI: 1.11-4.47).
    Spray formulation use during pregnancy might increase the risk of urological anomalies in the offspring.
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  • 文章类型: Case Reports
    PierreRobin综合征(PRS)的儿童出生后经常呼吸困难和进食困难。如果保守治疗不能缓解气道阻塞,外科手术可以考虑。PRS患者需要多学科的治疗方法。
    PierreRobin综合征是一种常见的颅面异常,可导致上气道下垂和阻塞。这使得它很难进食,导致严重的营养不良。这种情况通常也以缺乏软腭为特征。我们提到一名患有皮埃尔·罗宾综合征的新生儿,没有软腭和肺炎并发症,其即将发生的呼吸衰竭得到了成功治疗。为了解决这些婴儿及其家人面临的复杂问题,需要多学科的方法。
    UNASSIGNED: Children with Pierre Robin syndrome (PRS) often have trouble breathing and eating as soon as they are born. If conservative therapy fails to alleviate airway obstruction, surgical surgery may be considered. Patients with PRS require multidisciplinary approaches for treatment.
    UNASSIGNED: Pierre Robin syndrome is a common craniofacial abnormality that causes glossoptosis and blockage of the upper airway. This renders it difficult to feed, which leads to severe malnutrition. This condition is also often marked by an absence of a soft palate. We mention a newborn with Pierre Robin syndrome with the absence of a soft palate and pneumonia complications, whose impending respiratory failure was treated successfully. To solve the complex problems that these babies and their families are facing, a multidisciplinary approach is needed.
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  • 文章类型: Journal Article
    先天性畸形被定义为器官或身体部位形态发生的单个或多个缺陷,在子宫内或出生时可识别。随着先天性畸形产前检测的最新进展,这些疾病中的许多可以在常规胎儿超声检查早期发现。本系统综述的目的是将有关妊娠合并胎儿异常的分娩方式的最新知识系统化。从2002年到2022年搜索了Medline和Ebsco数据库。纳入标准为产前诊断的胎儿畸形,单身怀孕,和已知的交付模式。经过第一轮研究,共发现546项研究。为了进一步分析,我们考虑了有关已知新生儿结局的人类单次妊娠的全文研究.出版物分为六组:先天性心脏病,神经管缺陷,腹裂,胎儿肿瘤,小头畸形,还有肺和胸腔畸形.选择了18篇具有描述分娩方式和新生儿结局的文章进行进一步分析。在大多数因胎儿异常而复杂的怀孕中,自然阴道分娩应该是主要选择,因为它与较低的孕产妇发病率和死亡率有关。如果胎儿异常与难产风险相关,通常需要剖腹产,出血,或保护囊的破坏;这种异常的例子包括巨大的脐眼,严重脑积水,和巨大的脊髓膜膨出和畸胎瘤。胎儿解剖超声检查应及早进行,留出足够的时间让父母熟悉所有可用的选择,包括终止妊娠,如果检测到异常。
    Congenital malformations are defined as single or multiple defects of the morphogenesis of organs or body parts, identifiable during intrauterine life or at birth. With recent advances in prenatal detection of congenital malformations, many of these disorders can be identified early on a routine fetal ultrasound. The aim of the present systematic review is to systematize the current knowledge about the mode of delivery in pregnancies complicated by fetal anomalies. The databases Medline and Ebsco were searched from 2002 to 2022. The inclusion criteria were prenatally diagnosed fetal malformation, singleton pregnancy, and known delivery mode. After the first round of research, 546 studies were found. For further analysis, studies with full text available concerning human single pregnancy with known neonatal outcomes were considered. Publications were divided into six groups: congenital heart defects, neural tube defects, gastroschisis, fetal tumors, microcephaly, and lung and thorax malformations. Eighteen articles with a descripted delivery mode and neonatal outcome were chosen for further analysis. In most pregnancies complicated by the presence of fetal anomalies, spontaneous vaginal delivery should be a primary option, as it is associated with lower maternal morbidity and mortality. Cesarean delivery is generally indicated if a fetal anomaly is associated with the risk of dystocia, bleeding, or disruption of a protective sac; examples of such anomalies include giant omphaloceles, severe hydrocephalus, and large myelomeningocele and teratomas. Fetal anatomy ultrasound should be carried out early, leaving enough time to familiarize parents with all available options, including pregnancy termination, if an anomaly is detected.
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