Embryology

胚胎学
  • 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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  • 文章类型: Journal Article
    成功的人类怀孕需要几个高度受控的步骤来保证卵母细胞的受精,胚胎的植入前发育,然后植入子宫壁.随后的胎盘发育确保了充足的胎儿营养和氧合,滋养细胞是在此过程中分化的第一个细胞谱系。胎盘通过向胎儿提供氧气和营养并去除废物来维持胎儿的生长。胎盘早期发育的问题会导致常见的妊娠疾病,这并不奇怪,例如复发性流产,胎儿生长受限,先兆子痫,和死产。了解人类胎盘的正常发育对于识别和了解可能发生的任何病理异常至关重要。这些问题的影响可能在怀孕后期才变得明显,在中期或高级阶段。这篇综述讨论了胚胎着床阶段的过程,涉及的分子机制,以及那些被认为有助于先兆子痫发展的机制异常。该综述还涵盖了先兆子痫患者胎盘组织检查期间发现的先兆子痫的组织学特征。
    Successful human pregnancy needs several highly controlled steps to guarantee an oocyte\'s fertilization, the embryo\'s pre-implantation development, and its subsequent implantation into the uterine wall. The subsequent placenta development ensures adequate fetal nutrition and oxygenation, with the trophoblast being the first cell lineage to differentiate during this process. The placenta sustains the growth of the fetus by providing it with oxygen and nutrients and removing waste products. It is not surprising that issues with the early development of the placenta can lead to common pregnancy disorders, such as recurrent miscarriage, fetal growth restriction, pre-eclampsia, and stillbirth. Understanding the normal development of the human placenta is essential for recognizing and contextualizing any pathological aberrations that may occur. The effects of these issues may not become apparent until later in pregnancy, during the mid or advanced stages. This review discusses the process of the embryo implantation phase, the molecular mechanisms involved, and the abnormalities in those mechanisms that are thought to contribute to the development of pre-eclampsia. The review also covers the histological hallmarks of pre-eclampsia as found during the examination of placental tissue from pre-eclampsia patients.
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  • 文章类型: Journal Article
    描述3例中线先天性上唇窦(MCULS),并回顾当前文献,以告知在这种罕见的先天性面部异常背景下颅内受累的风险。
    介绍了带有图表审查的有限案例系列。进行了文献检索,以回顾拟议的MCULS胚胎学理论,并确定头部延伸的相对频率。
    包括本文提出的3个新案例,在过去的53年中,文献中描述了42例MCULS.39例(93%)接受了手术切除,其中2例(4.7%)表明瘘管向头端延伸超过上颌骨,并终止于前颅底。然而,95%(37/39)的手术切除MCULS病例表现出更有限的延伸深度,在前鼻脊柱处或下方终止管道。
    MCULS异常是罕见的,文献中报道的病例少于50例。仅描述了2例MCULS延伸至鼻前脊柱并进入鼻中隔。作者认为MCULS不常规需要术前神经影像学检查。然而,如果术中发现窦道延伸超过前鼻棘,外科医生应考虑中止病例并进行适当的神经影像学检查。
    UNASSIGNED: To describe 3 cases of midline congenital upper lip sinus (MCULS) and review current literature to inform risk of intracranial involvement in the context of this rare congenital facial anomaly.
    UNASSIGNED: A limited case series with chart review is presented. A literature search was conducted to review proposed theories of the embryology of MCULS and to determine the relative frequency of cephalic extension.
    UNASSIGNED: Including the 3 new cases presented herein, there have been 42 cases of MCULS described in the literature over the past 53 years. Thirty-nine cases (93%) underwent surgical excision, with 2 of these cases (4.7%) demonstrating cephalic extension of the fistula tract beyond the maxillary crest with termination at the anterior skull base. However, 95% (37/39) of surgically excised MCULS cases demonstrated a more limited depth of extension, with termination of the tract at or below the anterior nasal spine.
    UNASSIGNED: The MCULS anomaly is rare, with fewer than 50 cases reported in the literature. Only 2 cases have been described with extension of the MCULS superior to the anterior nasal spine and into the nasal septum. It is the authors\' opinion that preoperative neuroimaging is not routinely required for MCULS. However, if extension of the sinus tract beyond the anterior nasal spine is noted intraoperatively, the surgeon should consider aborting the case and obtaining appropriate neuroimaging.
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  • 文章类型: Journal Article
    椎间盘(IVD)是人体最大的无血管器官,在为脊柱提供其独特的结构和生物力学功能方面起着重要作用。IVD的内部包含髓核(NP),一种凝胶状组织,其特征是II型胶原蛋白和蛋白聚糖含量高,这对圆盘的承重和减震性能至关重要。随着老化和IVD退化(IDD),NP逐渐失去其生理特性,导致腰痛和额外的后遗症。与周围的脊髓组织相反,NP表现出独特的胚胎发育,因为它直接来自脊索。这篇综述旨在探讨NP的胚胎学,强调关键转录因子的关键作用,指导来自脊索和周围巩膜组的NP细胞成分的分化和维持。通过对NP发展的理解,我们试图调查关键发展方面在IVD相关病理中的意义,如IDD和罕见的恶性脊索瘤。此外,这篇综述讨论了针对这些途径的治疗策略,包括利用NP发育和胚胎学的见解来指导未来治疗的新型再生方法。
    The intervertebral disc (IVD) is the largest avascular organ of the human body and plays a fundamental role in providing the spine with its unique structural and biomechanical functions. The inner part of the IVD contains the nucleus pulposus (NP), a gel-like tissue characterized by a high content of type II collagen and proteoglycans, which is crucial for the disc\'s load-bearing and shock-absorbing properties. With aging and IVD degeneration (IDD), the NP gradually loses its physiological characteristics, leading to low back pain and additional sequelae. In contrast to surrounding spinal tissues, the NP presents a distinctive embryonic development since it directly derives from the notochord. This review aims to explore the embryology of the NP, emphasizing the pivotal roles of key transcription factors, which guide the differentiation and maintenance of the NP cellular components from the notochord and surrounding sclerotome. Through an understanding of NP development, we sought to investigate the implications of the critical developmental aspects in IVD-related pathologies, such as IDD and the rare malignant chordomas. Moreover, this review discusses the therapeutic strategies targeting these pathways, including the novel regenerative approaches leveraging insights from NP development and embryology to potentially guide future treatments.
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  • 文章类型: Journal Article
    鸵鸟(Struthiocamelus)是国家和国际畜牧业中突出的重要野生物种。进行这项研究是为了分析胎儿和胚胎期鸵鸟呼吸系统的发育。从商业农场收集总共50个可育鸵鸟蛋,然后在36.00-37.00℃和25.00±2.00%湿度下孵育40天。在孵育的第13、22、26、30、36和42天从肺和颅骨获取切片,中间,在鸵鸟胚胎被斩首和血液引流后,颈部的尾部部分。固定后,processing,阻塞,和切片,所有样本都被苏木精和伊红染色,AlcianBlue(AB),VanGieson,和周期性酸希夫(PAS)技术。结论13日龄胚胎和杯状细胞(PAS阳性和AB阳性)中的气管具有不完全的透明软骨环和间充质向疏松结缔组织的分化。在22日龄的胚胎中观察到肺的支气管阶段,在26天大的胚胎中,以及30天大胚胎的臂旁和空气毛细血管阶段。从这项研究中获得的信息将有助于诊断影响该重要系统的病理,并改善工业育种管理。
    The ostrich (Struthio camelus) is an important wild species highlighted in national and international livestock industry. This research was conducted to analyze the development of the ostrich respiratory system during fetal and embryonic stages. A total of 50 fertile ostrich eggs were collected from commercial farms and then incubated at 36.00 - 37.00 ˚C and 25.00 ± 2.00% humidity for 40 days. Sections were taken on days 13, 22, 26, 30, 36, and 42 of incubation from the lung and the cranial, middle, and caudal parts of the neck after decapitation of ostrich embryos and blood drainage. After fixation, processing, blocking, and sectioning, all samples were stained by Hematoxylin and Eosin, Alcian Blue (AB), Van Gieson, and Periodic acid-Schiff (PAS) techniques. It was concluded that the trachea in the 13-day-old embryo and goblet cells (PAS-positive and AB-positive) had incomplete rings of hyaline cartilage and differentiation of mesenchymal to the loose connective tissue. The bronchial stage of the lung was observed in the 22-day-old embryo, pseudoglandular stage in the 26-day-old embryo, and parabrachial and air capillary stage in the 30-day-old embryo. The information obtained from this study will be useful for diagnosing pathologies affecting this vital system and results in improving industrial breeding management.
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  • 文章类型: Journal Article
    本研究旨在揭示Systomussarana的早期生活史阶段,一种对南亚水产养殖很重要的中型smileogastrin鲤鱼。通过每公斤鱼施用0.25mL繁殖激素,可以有效地圈养鱼。注射后8.54±0.55h产卵,卵呈浅黄色,直径为1.49±0.04毫米。孵化发生在受精后17小时,总长度(TL)为3.43±0.08mm的卵黄囊幼虫附着在植物部分和其他基质上,额头上有水泥腺。第三天,随着卵黄囊的完全吸收和附着器官的消失,前屈幼虫的TL为5.3±0.11mm。第八天,屈曲幼虫的TL为6±0.4mm,后部游泳膀胱充气良好,和屈曲后的幼虫,孵化后11天(dph),开发了一个两腔气囊。少年阶段,孵化后第21天,标志着中部鳍褶皱的丧失和尾部黑色斑点的出现,背侧,和肛门上区域。鳞片的开始和上颌barbel的雏形的出现使少年阶段与众不同。尺寸为4.6±0.36cmTL的亚成年人已经完成了鳞片,并完全失去了背侧和肛门上的斑点。我们认为,背侧下斑点的存在是幼虫和幼年形式的smilogastrin倒钩的独特个体发育和系统特征。
    The current study aims to uncover the early life-history stages of Systomus sarana, a medium-sized smiliogastrin cyprinid important for aquaculture in South Asia. The fish were effectively bred in captivity by administering 0.25 mL of breeding hormone per kilogram of fish. The spawning occurred 8.54 ± 0.55 h after the injection, and the eggs were phyto-lithophilic with a pale yellow color and a diameter of 1.49 ± 0.04 mm. Hatching occurred 17 h after fertilization, and the yolk-sac larvae of 3.43 ± 0.08 mm total length (TL) were adhering to the plant parts and other substrata with the cement glands on the forehead. On the third day, with complete absorption of the yolk sac and the disappearance of the attachment organ, the pre-flexion larvae measured 5.3 ± 0.11 mm TL. On the eighth day, the flexion larvae measured 6 ± 0.4 mm TL with a well-inflated posterior swim bladder, and the post-flexion larvae, at 11 days post-hatching (dph), developed a two-chambered gas bladder. The juvenile stage, on day 21 post-hatching, was marked by the loss of the median finfolds and the appearance of black blotches on the caudal, subdorsal, and supra-anal regions. The commencement of squamation and the appearance of the rudiments of maxillary barbels distinguished the juvenile stage. The subadults measuring 4.6 ± 0.36 cm TL had finished squamation and completely lost the subdorsal and supra-anal blotches. We propose that the presence of subdorsal blotches is a distinctive ontogenetic and systematic feature of larval and juvenile forms of smiliogastrin barbs.
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  • 文章类型: Journal Article
    通过改变基因表达或蛋白质编码序列的调节,可以产生发育进化和形态多样化。为了阐明墨西哥Astyanax物种洞穴鱼早期发育进化的潜在机制,我们比较了原肠胚形成结束时表面居住和盲洞适应形态的转录组。20%的转录组差异表达。洞穴X表面杂种中的等位基因表达率表明,顺式调节变化是基因表达中形态间变异的准排他性因素。在108个顺式调控水平变化的基因中,我们探索了主眼基因rx3的表达控制。我们发现细胞rx3水平以细胞自主方式顺式调节,而rx3域大小取决于非自主Wnt和Bmp信号。这些结果突出了解耦机制和调节模块如何控制发育基因表达和形状形态变化。最后,对固定编码突变和差异外显子使用的全转录组搜索表明,编码序列的变异贡献较小。因此,在早期胚胎发生期间,基因表达调控的变化是洞穴鱼发育进化的主要驱动因素。
    Developmental evolution and diversification of morphology can arise through changes in the regulation of gene expression or protein-coding sequence. To unravel mechanisms underlying early developmental evolution in cavefish of the species Astyanax mexicanus, we compared transcriptomes of surface-dwelling and blind cave-adapted morphs at the end of gastrulation. Twenty percent of the transcriptome was differentially expressed. Allelic expression ratios in cave X surface hybrids showed that cis-regulatory changes are the quasi-exclusive contributors to inter-morph variations in gene expression. Among a list of 108 genes with change at the cis-regulatory level, we explored the control of expression of rx3, which is a master eye gene. We discovered that cellular rx3 levels are cis-regulated in a cell-autonomous manner, whereas rx3 domain size depends on non-autonomous Wnt and Bmp signalling. These results highlight how uncoupled mechanisms and regulatory modules control developmental gene expression and shape morphological changes. Finally, a transcriptome-wide search for fixed coding mutations and differential exon use suggested that variations in coding sequence have a minor contribution. Thus, during early embryogenesis, changes in gene expression regulation are the main drivers of cavefish developmental evolution.
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