Embryology

胚胎学
  • 文章类型: Journal Article
    背景:血管发育过程对于塑造复杂的颅面结构至关重要。研究血管发育与口面形态发生之间的相互作用在临床实践中至关重要,并有助于提高我们对(血管)发育生物学的理解。对特定血管发育途径的新见解将对各个医学学科产生深远的影响,加强临床理解,精炼手术技术,阐明先天性畸形的起源.颅面脉管系统的胚胎发育仍然存在,然而,在当前文献中曝光不足。我们从两个早期人类胚胎样本中成像并创建了颅面动脉系统的3维(D)重建图像。
    目的:本研究的目的是研究早期人类胚胎颅面区域的血管发育,重点是了解血管发育和口面形态发生之间的相互作用。
    方法:重建(3-D)是从高分辨率的基于扩散碘的对比增强计算机断层扫描(diceCT)图像生成的,能够在来自荷兰胎儿生物库的卡内基阶段(CS)14和18的人类胚胎样本中可视化口面动脉系统,对应于妊娠的第7周和第8.5周。
    结果:来自两个人类胚胎样本(年龄为CS14和18),两个不同发育阶段的口面区域的血管发育成功地用B-Lugol染色,并使用分辨率为2.5μm和9μm体素尺寸的微型计算机断层扫描(micro-CT)扫描仪成像,分别。此外,使用AMIRA2021.2软件生成口面血管系统的教育性3-D重建.
    结论:Micro-CT成像是高分辨率可视化人胚胎样本中口腔面部血管发育的有效策略。生成的交互式3-D教育模型有助于更好地理解口面结构的发展。
    BACKGROUND: The process of vascular development is essential for shaping complex craniofacial structures. Investigating the interplay between vascular development and orofacial morphogenesis holds critical importance in clinical practice and contributes to advancing our comprehension of (vascular) developmental biology. New insights into specific vascular developmental pathways will have far-reaching implications across various medical disciplines, enhancing clinical understanding, refining surgical techniques, and elucidating the origins of congenital abnormalities. Embryonic development of the craniofacial vasculature remains, however, under-exposed in the current literature. We imaged and created 3-dimensional (D) reconstructed images of the craniofacial arterial system from two early-stage human embryonic samples.
    OBJECTIVE: The aim of this study was to investigate the vascular development of the craniofacial region in early-stage human embryos, with a focus on understanding the interplay between vascular development and orofacial morphogenesis.
    METHODS: Reconstructions (3-D) were generated from high-resolution diffusible iodine-based contrast-enhanced computed tomography (diceCT) images, enabling visualization of the orofacial arterial system in human embryonic samples of Carnegie stages (CS) 14 and 18 from the Dutch Fetal Biobank, corresponding to weeks 7 and 8.5 of gestation.
    RESULTS: From two human embryonic samples (ages CS 14 and 18), the vascular development of the orofacial region at two different stages of development was successfully stained with B-Lugol and imaged using a micro-computed tomography (micro-CT) scanner with resolutions of 2.5-μm and 9-μm voxel sizes, respectively. Additionally, educational 3-D reconstructions of the orofacial vascular system were generated using AMIRA 2021.2 software.
    CONCLUSIONS: Micro-CT imaging is an effective strategy for high-resolution visualization of vascular development of the orofacial region in human embryonic samples. The generated interactive 3-D educational models facilitate better understanding of the development of orofacial structures.
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  • 文章类型: Journal Article
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  • 文章类型: Journal Article
    脊椎动物心脏的流动路径具有以弯曲(S形)和扭曲(手性)组分为特征的环状构型。环状心脏设计在脊椎动物中是系统发育保守的,被认为是心脏泵功能的重要决定因素。它在胚胎发育期间通过称为“心脏循环”的过程进化。在过去的几十年里,在发现遗传方面取得了显著进展,分子,和导致心脏循环的生物物理因素。我们目前对心脏循环的功能后果的了解落后于这一令人印象深刻的进展。本文提供了有关环形心脏设计及其对泵送功能的影响的当前可用信息的概述和讨论。需要强调的是:(1)循环似乎可以提高无阀胚胎心脏的泵送效率。(2)双侧不对称(手性)环在确定四足动物多腔心脏中肺和全身流路的排列和分离中起着核心作用。(3)不需要手性循环来有效泵送鱼的两腔心脏。(4)流路的S形弯曲可以提高较低和较高脊椎动物心脏的泵送效率。
    The flow path of vertebrate hearts has a looped configuration characterized by curved (sigmoid) and twisted (chiral) components. The looped heart design is phylogenetically conserved among vertebrates and is thought to represent a significant determinant of cardiac pumping function. It evolves during the embryonic period of development by a process called \"cardiac looping\". During the past decades, remarkable progress has been made in the uncovering of genetic, molecular, and biophysical factors contributing to cardiac looping. Our present knowledge of the functional consequences of cardiac looping lags behind this impressive progress. This article provides an overview and discussion of the currently available information on looped heart design and its implications for the pumping function. It is emphasized that: (1) looping seems to improve the pumping efficiency of the valveless embryonic heart. (2) bilaterally asymmetric (chiral) looping plays a central role in determining the alignment and separation of the pulmonary and systemic flow paths in the multi-chambered heart of tetrapods. (3) chiral looping is not needed for efficient pumping of the two-chambered hearts of fish. (4) it is the sigmoid curving of the flow path that may improve the pumping efficiency of lower as well as higher vertebrate hearts.
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  • 文章类型: Journal Article
    这篇综述的目的是提供截至2024年2月在PubMed数据库上发表的关于二尖瓣疾病发展的文献的全面概述。详细提到二尖瓣脱垂,从胚胎学到遗传档案。在3291篇涉及二尖瓣胚胎学的出版物中,215个涉及二尖瓣遗传学,83个被选择用于进一步分析。在查看了这些数据之后,我们主张基因疗法的重要性,非侵入性地预防或治疗瓣膜变性。
    The purpose of this review is to present a comprehensive overview of the literature published up to February 2024 on the PubMed database regarding the development of mitral valve disease, with detailed reference to mitral valve prolapse, from embryology to a genetic profile. Out of the 3291 publications that deal with mitral valve embryology, 215 refer to mitral valve genetics and 83 were selected for further analysis. After reviewing these data, we advocate for the importance of a gene-based therapy that should be available soon, to prevent or treat non-invasively the valvular degeneration.
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  • 文章类型: Journal Article
    胚胎学是理解人体解剖学的重要组成部分。它需要深入了解3D知识,但主要使用二维资源进行教学。特别是,人类心脏的发展是一个复杂的过程,使用传统的教学方法很难理解。我们在这里介绍一系列心脏胚胎学模型,以补充胚胎学教育并帮助学生理解这一复杂的过程。使用Polydoh可模制塑料,描述了代表心脏形成中六个不同关键步骤的模型,包括:心脏导管的融合(第21-23天),心脏循环的开始(第23天的早期),完全形成的心脏回路(第23天晚些时候),心脏四周,心内膜垫和隔膜的形成(第四周晚期),和心脏完全形成的隔膜,卵圆孔正常(第六周)。这些模型不仅改善了胚胎学教育,而且还改善了对心脏病理的理解。这种方法为胚胎学教育提供了一种负担得起的选择,并为学生提供了有助于理解复杂器官发育的学习工具。
    Embryology is an essential component to understanding human anatomy. It requires an in-depth understanding of 3D knowledge but is primarily taught with 2-dimensional resources. In particular, the development of the human heart is a complex process and difficult to understand using traditional teaching methods. We present here a series of heart embryology models created to supplement embryology education and aid students in understanding this complex process. Using Polydoh moldable plastic, models representing six different critical steps in heart formation are described, including: the fusing of the heart tubes (days 21-23), beginning of the cardiac loop (early day 23), fully formed cardiac loop (late day 23), four-week heart, formation of the endocardial cushions and septi (late fourth week), and heart with fully formed septi with functioning foramen ovale (sixth week). These models not only improve embryology education but also the understanding of heart pathologies. This method provides an affordable option for embryology education and provides students with learning tools that assist with the comprehension of the development of a complex organ.
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  • 文章类型: Journal Article
    延长潜伏期对胚胎发育的影响,尤其是遗留结构,知之甚少。一个例子是avesuchianvomeronasal器官(VNO),在许多四足动物中发现的鼻化学感觉器官,但在成年的avesuchians(鳄鱼和鸟类)中却没有,据推测是短暂的胎儿结构。Laysan信天翁(Phoebastriaimmutabilis)的卵潜伏期约为65天。这个潜伏期是家禽的两倍,其中推定的VNO已被记录为上皮增厚。这项研究的目的是记录信天翁中假定的VNO的发展。九个信天翁胚胎头的连续组织学切片,跨越6个阶段(代表第19至32天:第31至39阶段),进行了检查。配对的推定VNO作为一个简短的,从第32阶段开始,鼻中隔任一侧的鼻背侧管状结构,在后来的标本中变得稳定更长。在最初的阶段,管的上皮壁类似于神经上皮,然后变得更薄更简单的形态。根据我们现有的年龄范围,目前还不清楚它是作为一个基本的结构(像人类一样)还是一个短暂的结构(像鸡一样)在这些胚胎中期。尽管未来的研究必须确定Laysan信天翁VNO的命运(例如,它是在产后保留的吗?),潜伏期长度对胚胎发育的作用是一个更大的问题。
    The effect of lengthened incubation periods on embryonic development, especially vestigial structures, is poorly understood. An example of which is the avesuchian vomeronasal organ (VNO), a nasal chemosensory organ found in many tetrapods but absent in adult avesuchians (crocodilians and birds) in whom it is presumed to be a transitory fetal structure. The Laysan Albatross (Phoebastria immutabilis) has an incubation period of their eggs of about 65 days. This incubation period is twice that of domestic fowl, wherein a putative VNO has been documented as an epithelial thickening. The purpose of this study is to document the development of a putative VNO in the albatross. Serial histological sections of nine albatross embryonic heads, across 6 stages (representing days 19 to 32: stages 31-39), were examined. A paired putative VNO was present as a short, tubular structure in the anterodorsal aspect on either side of the nasal septum from stage 32 onwards, getting steadily longer in later specimens. At the earliest stages, the epithelial walls of the tube resemble a neuroepithelium, but then becomes thinner and simpler in morphology. Based on our available age range, it is unclear whether it persists as a rudimentary structure (like that of the human) or if it is a transitory structure (like in chickens) in these mid embryonic stages. Though future studies must determine the fate of the Laysan albatross VNO (e.g., is it retained postnatally?), the role of incubation period length on embryonic development is a bigger question to be explored.
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  • 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
    基底细胞癌(BCC)是一种独特的肿瘤,由于其独特的组织学特征和临床行为,例如上皮和基质的持续二元参与,实际上没有转移,并且有特定的解剖部位发生和传播。长期以来,人们一直假设BCC的发作与发育异常过程之间存在潜在的相关性。对支持该理论的PubMed索引出版物的选择性调查检索了1901年至2024年之间发表的64篇精选文章。从我们的文献综述分析来看,确定了BCC胚胎发育异常发病机制的五个主要研究领域:(1)BCC的地形分布与宏观胚胎学之间的相关性,(2)BCC与显微胚胎学的相关性,(3)遗传性BCC,(4)BCC与毛囊的相干性和(5)BCC与份子胚胎学的相干性具有特异性的聚焦Hedgehog旌旗灯号通路。来自微观和分子研究的大量数据一致支持BCC发生异常发病机理的假设。这些证据正在促进这种疾病的临床管理的进步,正在开发基于免疫调节的创新靶向分子疗法。
    The Basal Cell Carcinoma (BCC) is a sort of unique tumour due to its combined peculiar histological features and clinical behaviour, such as the constant binary involvement of the epithelium and the stroma, the virtual absence of metastases and the predilection of specific anatomical sites for both onset and spread. A potential correlation between the onset of BCC and a dysembryogenetic process has long been hypothesised. A selective investigation of PubMed-indexed publications supporting this theory retrieved 64 selected articles published between 1901 and 2024. From our analysis of the literature review, five main research domains on the dysembryogenetic pathogenesis of BCC were identified: (1) The correlation between the topographic distribution of BCC and the macroscopic embryology, (2) the correlation between BCC and the microscopic embryology, (3) the genetic BCC, (4) the correlation between BCC and the hair follicle and (5) the correlation between BCC and the molecular embryology with a specific focus on the Hedgehog signalling pathway. A large amount of data from microscopic and molecular research consistently supports the hypothesis of a dysembryogenetic pathogenesis of BCC. Such evidence is promoting advances in the clinical management of this disease, with innovative targeted molecular therapies on an immune modulating basis being developed.
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  • 文章类型: Historical Article
    背景:JohnM.Opitz,在身高和科学成就上都是一个高耸的人物,在遗传学领域留下了不可磨灭的印记,儿科,和胚胎学。1935年生于汉堡的一个犹太家庭,Opitz的早期生活充满了逆境。尽管面临这些挑战,他追求非凡的事业,15年移民到美国,成为爱荷华州立大学和威斯康星大学等机构的著名科学家,在那里他为临床遗传学做出了开创性的贡献。
    方法:证明了他富有同情心的本性,Opitz致力于了解和治疗罕见的遗传性疾病,在几种医疗条件下为他赢得了同名的认可。他的影响超越了学术界,他与西西里大学在意大利推进临床遗传学的合作努力证明了这一点。奥皮茨的教学风格强调简单,同理心,细致的临床检查,给学生和同事留下不可磨灭的印记。
    结论:约翰·M·奥皮茨高耸的智力,富有同情心的举止,对医学和遗传学的深刻影响使他成为一个具有持久意义的人物。他的遗产通过他感动的无数生命得以延续,他传递的知识,以及他建立的持久友谊.记住约翰·奥皮茨,我们不仅尊重一个人,也是一个神话——韧性的象征,人性,和科学卓越。
    BACKGROUND: John M. Opitz, a towering figure in both stature and scientific achievement, left an indelible mark on the fields of genetics, pediatrics, and embryology. Born in 1935 in Hamburg to a Jewish family, Opitz\'s early life was marked by adversities. Despite these challenges, he pursued a remarkable career, immigrating to the United States at 15 years and becoming a renowned scientist in institutions like Iowa State University and the University of Wisconsin, where he made groundbreaking contributions to clinical genetics.
    METHODS: A testament to his compassionate nature, Opitz dedicated himself to understanding and treating rare genetic disorders, earning him eponymous recognition in several medical conditions. His impact extended beyond academia, as evidenced by his collaborative efforts with Sicilian universities to advance clinical genetics in Italy. Opitz\'s teaching style emphasized simplicity, empathy, and meticulous clinical examination, leaving an indelible mark on students and colleagues.
    CONCLUSIONS: John M. Opitz\'s towering intellect, compassionate demeanor, and profound impact on medicine and genetics made him a figure of enduring significance. His legacy lives on through the countless lives he touched, the knowledge he transmitted, and the enduring friendships he forged. In remembering John Opitz, we honor not only a man, but also a myth-a symbol of resilience, humanity, and scientific excellence.
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  • 文章类型: Journal Article
    在现代医学课程中,胚胎学通常是通过讲座教授的,一些机构提供教程。3-D视频或动画的使用使学生能够研究这些胚胎结构以及它们如何随时间变化。这项研究的目的是评估YouTube上提供的心脏胚胎学视频的质量。关于在心脏胚胎学教学或学习中使用YouTube的系统文献综述发现,没有论文研究这个特定问题。接下来,对YouTube进行了系统的搜索。共检索到1200个心脏胚胎学视频,使用12个特定的搜索词,在两个或更多搜索词下检索到370个视频,并排除在外。另有511个视频被排除在其他内容之外,具体标准。根据YouTube视频评估标准(UTvAC)对其余319个视频进行了评估。121人被评为“有用”。\“YouTube上的视频上传的受众广泛,从儿童到心脏病学家,内容控制是不完善的。多个视频被识别为来自原始频道的视频的副本,通常没有归属。虽然有49个视频显示了手术或人体材料,没有一个包含关于同意的道德声明,其中只有10个包括年龄限制或图形咨询。虽然在YouTube上有对医学生学习心脏胚胎学有用的视频,直观的搜索策略也会识别出许多内容不相关且质量可变的人。数字能力和搜索策略不是天生的技能,因此,教育工作者应该教学生评估信息,以避免过载或“过滤器故障”。\"
    In modern medical curricula, embryology is typically taught through lectures, with a few institutions providing tutorials. The use of 3-D videos or animations enables students to study these embryological structures and how they change with time. The aim of this study was to assess the quality of cardiac embryology videos available on YouTube. A systematic literature review regarding the use of YouTube in teaching or learning cardiac embryology identified no papers that examined this specific question, and next, a systematic search of YouTube was performed. A total of 1200 cardiac embryology videos were retrieved using 12 specific search terms, with 370 videos retrieved under two or more search terms and excluded. A further 511 videos were excluded under additional, specific criteria. The remaining 319 videos were evaluated with the YouTube Video Assessment Criteria (UTvAC), with 121 rated as \"useful.\" Videos on YouTube are uploaded with a wide audience in mind, from children to cardiologists, and content control is imperfect. Multiple videos were identified as duplicates of videos from original channels, typically without attribution. While 49 videos showed operations or human material, none contained an ethical statement regarding consent, and only 10 of these included an age restriction or graphical advisory. While there are useful videos for medical students studying cardiac embryology on YouTube, intuitive search strategies will also identify many with irrelevant content and of variable quality. Digital competence and search strategies are not innate skills, so educators should teach students to assess information so as to avoid overload or \"filter failure.\"
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