malformations

畸形
  • 文章类型: Journal Article
    对于怀孕时需要继续服用抗精神病药物的患者,存在很多争论,因为必须权衡与抗精神病药物本身相关的潜在致畸和畸形作用。为了解决这个问题,我们对PubMed进行了系统的审查,使用以下策略的PsycINFO和CINHAL数据库和ClinicalTrials.gov注册:(毒性或致畸性或畸形*或“出生缺陷*”或“先天性异常”或“先天性异常”或“大脑异常”或“行为异常”或“行为异常”)和抗精神病药物*(妊娠或妊娠或哺乳期或产前或产后)2023年9月27日。我们发现38项研究符合资格。最古老的文章发表于1976年,而大多数文章都是最近发表的。大多数研究得出结论,抗精神病药,尤其是第二代抗精神病药,缺乏致畸潜力,虽然很少有研究没有定论并推荐复制。大多数权威文章来自波士顿地区,在那里实施了大型数据库来研究精神药物的畸形潜力。其他可靠的数据库来自北欧登记册。总体结论是,抗精神病药物与畸形的关系并不比疾病本身更多;大多数研究认为,没有理由在怀孕期间停用抗精神病药物。
    There is much debate about continuing antipsychotic medication in patients who need it when they become pregnant because benefits must be weighed against potential teratogenic and malformation effects related to antipsychotics themselves. To address this, we conducted a systematic review on the PubMed, PsycINFO and CINHAL databases and the ClinicalTrials.gov register using the following strategy: (toxicity OR teratogenicity OR malformation* OR \"birth defect*\" OR \"congenital abnormality\" OR \"congenital abnormalities\" OR \"brain changes\" OR \"behavioral abnormalities\" OR \"behavioral abnormalities\") AND antipsychotic* AND (pregnancy OR pregnant OR lactation OR delivery OR prenatal OR perinatal OR post-natal OR puerperium) on September 27, 2023. We found 38 studies to be eligible. The oldest was published in 1976, while most articles were recent. Most studies concluded that the antipsychotics, especially the second-generation antipsychotics, were devoid of teratogenic potential, while few studies were inconclusive and recommended replication. Most authoritative articles were from the Boston area, where large databases were implemented to study the malformation potential of psychiatric drugs. Other reliable databases are from Northern European registers. Overall conclusions are that antipsychotics are no more related to malformations than the disorders themselves; most studies recommend that there are no reasons to discontinue antipsychotic medications in pregnancy.
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  • 文章类型: Case Reports
    背景:术语先天性膈膨出(CDE)是指膈的解剖学异常。这是非常罕见的情况;然而,早期和及时诊断是非常重要的,因为可能危及生命的并发症。受影响最严重的病人是新生儿,通常表现为呼吸窘迫症状。本研究的目的是系统回顾现有文献,巩固新生儿CDE的数据,并报告一例先天性左半膈肌diaphragm肌膨出的新生儿以及胃肠道的临床体征和症状。
    方法:对PubMed和Scopus数据库进行了电子搜索,涉及评估临床表现的研究,诊断方法,治疗,和新生儿人群CDE的结果。
    结果:93项研究的数据被纳入我们的综述,报告204例CDE病例,根据他们的说法,男性/女性比例为1/1,主要为右侧外移。诊断主要通过胸部X光检查确定;手术干预是最常见的治疗方法。复发率为8.3%(9/109例)。
    结论:早期准确的CDE诊断和膈肌修复可预防并发症,降低发病率,提高患者的生活质量。
    BACKGROUND: The term congenital diaphragmatic eventration (CDE) refers to an anatomical abnormality of the diaphragm. It is a very rare condition; however, early and prompt diagnosis is of very great importance due to possible life-threatening complications. Most severely affected patients are neonates, usually presented with respiratory distress symptoms. The aim of this study was to systematically review the existing literature and to consolidate data on CDE in neonates as well as to report a case of a neonate with congenital diaphragmatic eventration of the left hemidiaphragm and clinical signs and symptoms of the gastrointestinal tract.
    METHODS: An electronic search of the PubMed and Scopus databases was performed regarding studies evaluating the clinical presentation, diagnosis methods, treatments, and outcomes of CDE in the neonatal population.
    RESULTS: Data from 93 studies were integrated into our review, reporting 204 CDE cases, and according to them, the male/female ratio was 1/1 with a predominance of right-sided eventration. The diagnosis was primarily established by chest X-ray; surgical intervention was the most frequent treatment. The recurrence rate was 8.3% (9/109 cases).
    CONCLUSIONS: Early and accurate diagnosis of CDE and repair of the diaphragm can prevent complications, reduce morbidity, and improve the quality of patient\'s life.
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  • 文章类型: Case Reports
    脊髓动静脉畸形是儿科年龄组中罕见的血管异常。这些异常与破坏性后果有关,需要及时管理以防止长期的神经系统后遗症。我们报告了一例10岁男孩继发于III型脊髓动静脉畸形(青少年AVM)的四瘫,神经系统体征迅速恶化,由于缺乏先进的神经外科设施和介入放射学服务,必须进行保守管理在我们的设施和子区域。
    Spinal arteriovenous malformations are rare vascular anomalies within the paediatric age group. These anomalies are associated with devastating consequences and require prompt management to prevent the long-term neurological sequelae. We report a case of a 10-year-old boy with tetraparesis secondary to spinal arterio- venous malformation type III (Juvenile AVM) with rapidly deteriorating neurological signs who had to be managed conservatively due to lack of advanced neurosurgical facilities and interventional radiological services in our facility and sub region.
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  • 文章类型: Journal Article
    (1)目的:本系统评价总结了当前有关妊娠和母乳喂养期间接种COVID-19疫苗后母婴结局的知识。(2)研究设计:PubMed,科克伦图书馆,并在2021年10月27日之前搜索了教育资源信息中心(ERIC)。主要结果是估计报告有多少孕妇和哺乳期妇女接种了疫苗,并有孕产妇和新生儿结局。(3)结果:接受COVID-19疫苗接种的74,908名孕妇和5098名哺乳期妇女的45项研究数据被认为是合格的。没有重大副作用的报道,特别是在怀孕的第二和第三个三个月和母乳喂养期间。相反,现有研究显示,婴儿在母亲接种疫苗后接受了特异性SARS-CoV-2抗体.(4)结论:孕妇应推荐接种SARS-CoV-2病毒疫苗,在利弊得到充分解释之后。特别是,鉴于证据仍然有限,并考虑到妊娠头几个月发烧增加了先天性异常的可能性,他们应该得到仔细的建议。同样的考虑也适用于母乳喂养的妇女,还考虑到mRNA疫苗可以在人乳中产生的免疫反应。
    (1) Objective: This systematic review summarizes current knowledges about maternal and neonatal outcomes following COVID-19 vaccination during pregnancy and breastfeeding. (2) Study design: PubMed, Cochrane Library, and the Education Resources Information Center (ERIC) were searched up to 27 October 2021. The primary outcome was to estimate how many pregnant and lactating women were reported to be vaccinated and had available maternal and neonatal outcomes. (3) Results: Forty-five studies sourcing data of 74,908 pregnant women and 5098 lactating women who received COVID-19 vaccination were considered as eligible. No major side-effects were reported, especially during the second and third trimester of pregnancy and during breastfeeding. Conversely, available studies revealed that infants received specific SARS-CoV-2 antibodies after maternal vaccination. (4) Conclusions: Vaccination against the SARS-CoV-2 virus should be recommended for pregnant women, after the pros and cons have been adequately explained. In particular, given the still limited evidence and considering that fever during the first months of gestation increases the possibility of congenital anomalies, they should be carefully counseled. The same considerations apply to breastfeeding women, also considering the immune responses that mRNA vaccines can generate in their human milk.
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  • 文章类型: Journal Article
    永久性上颌和下颌第一磨牙是与下颌切牙一起进入口腔的第一颗恒牙。它是孕产妇和胎儿健康的极好记录,反映了产前,围产期,以及产后健康和疾病。这篇综述的重点是磨牙的形态发生,磨牙畸形,它们的病因,和导致特定模式的磨牙畸形的病理。
    Permanent maxillary and mandibular first molars are the first permanent teeth to erupt into the oral cavity along with the mandibular incisors. It serves as an excellent record of maternal and fetal health, reflecting the prenatal, perinatal, and postnatal health and diseases. This review focuses on the molar morphogenesis, molar malformations, their etiopathogenesis, and pathologies causing specific pattern of molar malformations.
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  • 文章类型: Journal Article
    先天性肿瘤和肿瘤样病变代表了兽医学和人类医学中的一组罕见疾病,这些疾病是由组织残留物引起的,在怀孕期间或生命的前2-3个月内被发现。在小牛中已经报道了不同形式的先天性肿瘤和先天性肿瘤样病变,对它们的发展知之甚少。它们通常构成诊断挑战,引用术语有时可能是模棱两可的。以前关于肿瘤样病变的报道,软组织肿瘤,血管肿瘤,圆形细胞肿瘤和神经肿瘤,本文综述了腹膜和泌尿生殖系统,并讨论了遗传因素在这些条件发展中的作用。
    Congenital tumours and tumour-like lesions represent a group of rare disorders in both veterinary and human medicine that arise from tissue remnants and are detected during pregnancy or within the first 2-3 months of life. Different forms of congenital tumours and congenital tumour-like lesions have been reported in calves and their development is poorly understood. They often pose a diagnostic challenge and the referring nomenclature occasionally may be equivocal. Previous reports regarding tumour-like lesions, soft tissue tumours, vascular tumours, round cell tumours and neoplasms of the nervous, peritoneum and urogenital systems are summarized in this review, and the role of genetic factors in the development of these conditions is discussed.
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  • 文章类型: Journal Article
    Isotretinoin is an oral derivate of vitamin A that has been used since 1982 for the treatment of multiple dermatologic conditions such as severe acne, rosacea, scarring alopecia, ichthyosis or non-melanoma skin cancer prophylaxis. The recommended dose is 0.5-1 mg/kg/day for a period of 4-6 months in sebaceous gland pathologies. There are many adverse effects caused by isotretinoin but by far the most important is the teratogenicity induced by this drug which is estimated to have a 20-35% risk to infants that are exposed to isotretinoin in utero and includes numerous congenital defects such as craniofacial defects, cardiovascular and neurological malformations or thymic disorders. Isotretinoin induces apoptosis and cell cycle arrest in human sebocytes, emphasizing these as processes associated with its teratogenic effect. The aim of this review is to analyze the latest literature data regarding the teratogenic effect of isotretinoin for both fertile females and males and its biological effects underlying the occurrence of congenital malformations under the influence of isotretinoin.
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  • 文章类型: Journal Article
    Ondansetron is increasingly used off label to treat nausea and vomiting during pregnancy. The main objective of this study was to evaluate the risk of major congenital malformations (MCM), cardiac defects and orofacial clefts associated with first trimester exposure to ondansetron using a meta-analytic approach. MEDLINE, ClinicalTrials.gov and Scopus were searched until November 2019. All comparative cohort and case-control studies on MCM, cardiac or orofacial defects and use of ondansetron during pregnancy were included. A team of paired reviewers independently extracted data using a proprietary collaborative WEB-based meta-analysis platform (metaPreg.org). Pooled odd ratios with corresponding 95% CIs were calculated using random effects models. From 214 records initially retrieved, 12 studies were included. Using all available information to date, first trimester exposure to ondansetron was found to be associated with an increased risk of (a) ventricular septal defects (VSD) (OR 1.11, 95% CI 1.00-1.23; p < .05; n = 6 studies; I2 = 0%) and (b) oral clefts (OR 1.22, 95% CI 1.00-1.49; p < .05; n = 4 studies; I2 = 0%). No significant association was observed for the risk of cleft palate but, when excluding the study that contributed to the study heterogeneity, we found an OR of 1.48 (95% CI 1.19-1.84; p < .01; n = 5 studies; I2 = 0%). No statistically significant association was found for MCM, overall cardiac malformations, atrial septal defects and cleft lip with or without cleft palate. Exploratory investigations of other malformations showed an increased risk of diaphragmatic hernia, hypoplastic left heart and \"respiratory system anomalies.\"
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    文章类型: Journal Article
    Nocturnal enuresis (NE) was defined by the World Health Organization (ICD-10) and the American Psychiatric Association (DSM-5) as bed-wetting in children aged >5 years. In cases of mental retardation, the developmental age may be equivalent to 5 years. In this review, we focus on the current knowledge about the etiology of enuresis and the most recent therapeutical options. Both non-pharmacological and pharmacological therapies are included, although the relative effectiveness of each remains uncertain. To date, motivational, alarm and drug therapies are the mainstay of treatment. Alarm therapy remains the first-line treatment modality for NE, while desmopressin is the most commonly used medical treatment.
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  • 文章类型: Case Reports
    双侧上腔静脉(SVC)缺失是一种罕见的先天性血管异常,主要是无症状,通常不被发现,通常与其他心脏异常有关。虽然通常无害,完全无辜,这种血管异常可能会使心血管手术复杂化,插入中心静脉导管和经静脉放置起搏器。这种SVC异常仍然不为人所知,诊断不足,其发病率比描述的高得多。更好地了解这种异常及其检测可能在避免其潜在并发症方面发挥关键作用。我们分享了一个女性成年人的案例,没有病史,她带着上胸部的侧支静脉循环去内脏外科,那是在一开始,误认为是门静脉高压综合征,研究结果被推动最终得出SVC双侧缺失的结论。
    Bilateral absence of the superior vena cava (SVC) is an uncommon congenital vascular anomaly, mainly asymptomatic, usually undetected, and often associated with other cardiac anomalies. Though usually harmless and totally innocent, this vascular anomaly might complicate cardiovascular surgery, the insertion of a central venous catheter and the transvenous placement of a pacemaker. This SVC anomaly is still not well known, underdiagnosed and its incidence is much higher than described. A better understanding of this anomaly and its detection could play a key role in avoiding its potential complications. We are sharing a case of a female adult, with no medical history, who presented herself to the department of visceral surgery with a collateral venous circulation of the upper thorax, that was at first, mistaken for a portal hypertension syndrome, findings were pushed to finally conclude a bilateral absence of the SVC.
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