embryogenesis

胚胎发生
  • 文章类型: Case Reports
    持续性增生性原发性玻璃体(PHPV)是一种罕见的先天性发育性眼部疾病,由胚胎玻璃样脉管系统的不完全消退引起;双侧表现甚至更罕见。我们报告了一名6岁的双侧PHPV儿童,他因斜视来我院就诊,没有表现出白血病,小眼症,和系统性疾病。这些独特的特征将我们的案例与其他PHPV案例区分开来。提高对儿童先天性眼病的认识以及扩大瞳孔进行眼底检查的重要性至关重要。
    Persistent hyperplastic primary vitreous (PHPV) is a rare congenital developmental ocular disorder caused by incomplete regression of the embryonic hyaloid vasculature; bilateral presentations are even rarer. We report a 6-year-old child with bilateral PHPV who visited our hospital for strabismus, without exhibiting leukocoria, microphthalmia, and systemic diseases. These unique characteristics distinguish our case from other cases of PHPV. It is crucial to increase awareness of congenital eye disease in children and the importance of performing fundus examination with the pupils dilated.
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  • 文章类型: Case Reports
    背景:肝下阑尾最常见的原因是胚胎发生过程中发生的原发性肠旋转异常。这种与高龄相关的异位地形图可能是阑尾炎或阑尾腹膜炎阶段的严重诊断问题。
    方法:我们报告了一个60岁的黑皮人,有泌尿病理和消化性溃疡史,从健康区转诊为右软骨下腹部疼痛,持续约5天,其次概括,我们怀疑腹膜炎的人,其病因尚待确定。在外科手术期间,术前复苏措施后,在肝脏下发现了一个痰状穿孔的阑尾。术后无并发症,手术8天后出院回家.
    结论:老年患者发生肝下阑尾腹膜炎会带来巨大的诊断问题。当面对右上腹疼痛时,考虑急性异位阑尾炎将显著减少并发症。
    BACKGROUND: Subhepatic appendix is most often due to an anomaly of rotation of the primary intestine occurring during embryogenesis. This ectopic topography associated with advanced age can be a serious diagnosis problem at the stage of appendicitis or appendicular peritonitis.
    METHODS: We report the case of a 60-year-old melanoderm man, with a history of urinary pathology and peptic ulcer, referred from a health district for abdominal pain of the right hypochondrium evolving for about 5 days, secondarily generalized, in whom we suspected peritonitis, the etiology of which remains to be determined. During the surgical intervention, after preoperative resuscitations measures, a phlegmonous perforated appendix was found under the liver. No postoperative complication was noted, and he was discharged home 8 days after his operation.
    CONCLUSIONS: Subhepatic appendicular peritonitis occurring in an elderly patient poses enormous diagnostic problems. When faced with right upper quadrant pain, considering acute ectopic appendicitis would significantly reduce complications.
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  • 文章类型: Case Reports
    We report a patient with phenotypic semblance to the congenital microgastria-limb reduction association (MLRD). Our patient presented with microgastria, bilateral upper limb anomalies, asplenia, solitary kidney, and mild micrognathia. In addition to the anomalies seen in our patient, MLRD has been associated with respiratory, cardiovascular, and central nervous system anomalies. MLRD is thought to arise from a developmental field defect during embryonic weeks five and six; however, no genetic cause has been elucidated. Along with our patient presentation, we review the literature to further our understanding of the MLRD phenotype spectrum.
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  • 文章类型: Journal Article
    Very few cases of craniorachischisis (CRN) with concomitant omphalocele (OMP) in the setting of trisomy 18 are reported in literature. Solitary midline closure defects are estimated to be more prevalent in trisomy 18 compared to the general population. Neurulation defect comparisons include anencephaly 0-2% versus 0.0206%, spina bifida 1-3% versus 0.0350%, and encephalocele 0-2% versus 0.0082% [Parker et al. (2010); Birth Defects Research. Part A: Clinical and Molecular Teratology, 88:1008-1016; Springett et al. (2015); American Journal of Medical Genetics. Part A, 167A:3062-3069]. The solitary anterior malformation OMP has been reported as high as 6% with trisomy 18 [Springett et al. (2015); American Journal of Medical Genetics. Part A, 167A:3062-3069]. We report the third published case of CRN with concomitant OMP observed in a likely trisomy 18 fetus that screened positive by noninvasive prenatal screening. Furthermore, we review and analyze the current literature to augment understanding of the genetic basis for anterior and posterior closure defects such as CRN and OMP. Although the current genetic lexicon lacks any definitive association with the simultaneous defects presented, previous research elucidated various genes related to anterior or posterior closure interruption individually. By consolidating current research, the authors advance knowledge of interconnected genetic pathology and direct future genetic mapping efforts.
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  • 文章类型: Journal Article
    AceTree,2006年首次发布的软件应用程序,促进了勘探,在4维(4D)荧光显微镜数据集中跟踪的秀丽隐杆线虫细胞核的管理和编辑。自最初发布以来,AceTree一直被用来与,编辑和解释秀丽隐杆线虫谱系数据。在其11年的一生中,AceTree已定期更新,以满足其用户社区的技术和研究需求。本文介绍了AceTree的最新迭代,其中包含大量更新,展示了AceTree在其他发展环境中的新适用性,并提出了其进化的软件开发范式,作为维护科学软件的可行模型。
    已经对用户界面进行了大规模更新,以改善用户体验。已根据功能对工具进行了分组,并删除了过时的方法。内部需求已经改变,使得在秀丽隐杆线虫环境和其他模式生物体中使用都具有更大的灵活性。此外,原来的三维(3D)观看窗口已经完全重新实现。新窗口为数据探索提供了一套新的工具。
    通过响应技术进步和研究需求,AceTree十多年来一直是科学研究的有用工具。对代码库进行的更新已将AceTree的适用性扩展到了其最初在C.elegans中的使用范围之外,并使其能够与其他模型生物一起使用。AceTree的发展展示了一个长期维护科学软件的可行模型。
    AceTree, a software application first released in 2006, facilitates exploration, curation and editing of tracked C. elegans nuclei in 4-dimensional (4D) fluorescence microscopy datasets. Since its initial release, AceTree has been continuously used to interact with, edit and interpret C. elegans lineage data. In its 11 year lifetime, AceTree has been periodically updated to meet the technical and research demands of its community of users. This paper presents the newest iteration of AceTree which contains extensive updates, demonstrates the new applicability of AceTree in other developmental contexts, and presents its evolutionary software development paradigm as a viable model for maintaining scientific software.
    Large scale updates have been made to the user interface for an improved user experience. Tools have been grouped according to functionality and obsolete methods have been removed. Internal requirements have been changed that enable greater flexibility of use both in C. elegans contexts and in other model organisms. Additionally, the original 3-dimensional (3D) viewing window has been completely reimplemented. The new window provides a new suite of tools for data exploration.
    By responding to technical advancements and research demands, AceTree has remained a useful tool for scientific research for over a decade. The updates made to the codebase have extended AceTree\'s applicability beyond its initial use in C. elegans and enabled its usage with other model organisms. The evolution of AceTree demonstrates a viable model for maintaining scientific software over long periods of time.
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  • 文章类型: Journal Article
    The effects of environmental contaminants on arthropod embryo stages have been poorly investigated in ecotoxicology. Moreover, many of these tests used hatching success as the sole metric, although it is possible to detect many more subtle effects. After a detailed description of embryogenesis in Gammarus fossarum, the present study reports on the sublethal effects of cadmium (Cd) exposure during embryonic development in G. fossarum. Embryos were first directly exposed in multiwell plates throughout the entire embryonic cycle (23 d) to increasing Cd concentrations (0, 1.5, and 3.0 μg/L; 120 embryos/concentration). Then, to assess the representativeness of the gammarid embryo assay performed in multiwell plates, embryos were exposed to similar Cd concentrations through the maternal open brood pouch. Next, to pinpoint sensitive periods of development, embryos were directly exposed to 3.0 μg/L of Cd for shorter periods of time: during gastrulation, organogenesis, and hatching. After hatching, the following parameters were measured in the newborn individuals: 1) body mass; 2) activity of the enzyme phenoloxidase, a key enzyme of the arthropod immune system; and 3) locomotor activity. Phenoloxidase activity was strongly inhibited in newborn individuals of embryos exposed (either in multiwell plates or in the maternal brood pouch) to 3.0 μg/L Cd throughout embryonic development. Furthermore, strong detrimental locomotor effects were observed in newborn individuals of embryos directly exposed to 3.0 μg/L. Exposures for shorter periods of time were not sufficient to induce such effects; no sensitive period could be determined. By bringing new insights into a critical time window of exposure, the gammarid embryo assay could provide a novel and interesting addition to existing bioassays in gammarids. Environ Toxicol Chem 2017;36:2436-2443. © 2017 SETAC.
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    文章类型: Journal Article
    OBJECTIVE: The incidence of duplicated inferior vena cava (IVC) ranges between 0.2-3%.
    METHODS: The objective of this report is to showcase malformation of inferior vena cava in a series of authors\' own case studies. We also discuss the abnormal embryogenesis that results in this and the clinical management aspects of duplicated IVC.
    RESULTS: Our findings suggest that it is important to recognize congenital anomaly such as duplicated IVC, especially prior to an invasive procedure.
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  • 文章类型: Case Reports
    Diabetic embryopathy refers to a constellation of congenital malformations arising in the setting of poorly controlled maternal diabetes mellitus. Cardiac abnormalities are the most frequently observed findings, with a 5-fold risk over normal pregnancies. Although a diverse spectrum of cardiac defects has been documented, cardiac noncompaction morphology has not been associated with this syndrome. In this report, we describe a novel case of biventricular cardiac noncompaction in a neonate of a diabetic mother. The patient was a late preterm female with right anotia, caudal dysgenesis, multiple cardiac septal and aortic arch defects, and biventricular cardiac noncompaction. Examination of both ventricles demonstrated spongy myocardium with increased myocardial trabeculation greater than 50% left ventricular thickness and greater than 75% right ventricular thickness, with hypoplasia of the bilateral papillary muscles, consistent with noncompaction morphology. Review of the literature highlights the importance of gene expression and epigenomic regulation in cardiac embryogenesis.
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  • 文章类型: Case Reports
    The morphogenesis of the pancreas is a complex process having a very low frequency of anatomic variation. The congenital anomalies are rare. Complete pancreatic and ventral pancreatic agenesis are incompatible with life. Dorsal pancreatic agenesis is exceedingly rare with less than 100 cases reported in the world literature. Patients with this anomaly may be asymptomatic or may present with abdominal pain, hyperglycemia, diabetes mellitus, and acute or chronic pancreatitis. Such anomalies are rarely reported; therefore, clinical awareness of agenesis of the dorsal pancreas as a cause of these symptoms can expand the differential diagnosis and improve patient management.
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  • 文章类型: Case Reports
    Ectopic prostatic tissue is an underreported entity, which is found most commonly in the lower male genitourinary tract, and ectopic prostate tissue outside the urinary tract is even rarer. Our patient was a  unique case of ectopic prostatic tissue within submucosa of the rectum. The patient presented with rectal bleeding, and a firm, round solid submucosa nodule found in the anterior rectum at digital rectal examination, it was 1cm in diameter and 5cm above the anal verge. The size and submucosa location of this nodule were confirmed by the colonoscopy and MRI. After being removed surgically, the histopathology of the specimen sections possessed typical prostatic acini and stroma, meanwhile the immunohistochemical staining for prostate specific antigen confirmed its\' prostatic nature. It is the first case to date, which involves the mural of rectum. We hypothesizes that the etiologies of ectopic prostatic tissue within the submucosa rectum attribute to embryogenetic abnormality.
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