Various Stages Of Embryogenesis Research Articles

Congenital Pulmonary Airway Malformation Type II and Challenge in the decision-making process in developing countries-a case report

Congenital Pulmonary Airway Malformation (CPAM) is a congenital lung disease that can be present from prenatal to childhood. The overall incidence of CPAM is reported to be 1 in 10,000 to 1 in 35,000 births, making it the most common type of congenital lung lesion. This malformation results from the interruption of lung development during various stages of embryogenesis. This case report aims to illustrate the disease through ultrasound imaging, emphasize its characteristics, and discuss parental counseling and decision-making regarding the continuation of pregnancy. It is important to highlight the limitations of prenatal diagnostic precision in developing countries and the need for additional diagnostic tools to improve parental decision-making options.

Incidence and Management of Congenital Vascular Malformations – An Institutional Experience

Abstract Introduction: Congenital vascular malformations (CVMs) are malformed vessels developed due to arrested development at various stages of embryogenesis. Arterial venous malformations (VMs) are complex primitive networks of arterial and venous channels (a nidus) that bypass the normal capillary bed. The management of CVM remains challenging because of their unpredictable behavior, high recurrence rate, and need for multidisciplinary management. In this study, we report on the incidence and management of CVM in our institution and its outcome. Materials and Methods: This is a retrospective analysis of CVM patients who were admitted in our institute from January 2010 to June 2023. In this study, 321 patients who presented with CVM are considered. Once a CVM was diagnosed, all underwent angiographic confirmation as a roadmap for treatment. Embolization, sclerotherapy, and surgical procedures were instituted by the multidisciplinary team with periodic follow-up. Results: Out of the 321 patients analyzed, VM predominates with 202 cases (62.9%), out of which 105 (51.9%) were treated with sclerotherapy, 66 (28.21%) were treated with excision, 40 (19.8%) were managed conservatively. Among 108 arteriovenous malformation (33.64%), 33 (30.55%) patients were treated with excision followed by repair and flap cover/split skin graft, 32 (29.62%) were treated with glue Embolization, 7 (6.48%) were treated with embolization followed by excision, one patient presented with life-threatening bleeding was treated by emergency ECA ligation followed by elective excision, 21 (19.44%) were managed conservatively and 13 (12.03%) patients were not willing for surgery. Seven (2.1%) lymphovenous malformation and 4 (1.24%) lymphatic malformations patients were also treated. Conclusion: Diagnosis and management of CVMs by a multidisciplinary approach that integrates surgical therapy with embolization and sclerotherapy appear to improve the results and management.

Analysis of the factors which may have influenced the incidence of congenital malformations in children born in the province of Warmia and Mazury between 1999 and 2000

<b>Introduction.</b> Congenital malformations have been known about for ages, but the reasons for their development have always been shrouded in mystery. All efforts to explain such reasons as to relating to the natural forces of God’s revenge have not stood the test of time. Still, the knowledge concerning the aetiology of malformations is not complete; we know, however, about many factors which may contribute to their development during various stages of embryogenesis. <b>Aim.</b> The aim of this paper is the analysis of specific factors which may have contributed to the development of congenital malformations in children born in the Province of Warmia and Mazury between the years 1999 and 2000. <b>Materials and methods.</b> The author of this paper, who is involved in the creation of the Polish Register of Congenital Malformations (PRCM), evaluated case records of newborns who had been reported to have been born with congenital malformations. The data recorded in this Register, maintained by the Chair and Department of Medical Genetics at the Medical Academy (at present Medical University) in Poznań, was verified by specialists, and later analysed according to the methodological principles of this work. The analysis included: fetal age and birth weight, mother’s age and education, as well as mother’s place of residence. Statistical analysis was carried out by means of Statistica v.6.1 software. <b>Results and discussion.</b> Congenital malformations were found in 276 boys, with a malformations incidence factor of 166.8/10000 for boys, and in 212 girls, the malformations incidence factor being 136.2/10000 for girls. The higher incidence of congenital malformations in boys was caused by a nearly 10 times higher incidence of urinary system defects. The incidence of congenital malformations in newborns whose mothers resided in cities amounted to 132.9/10000 of newborns born in cities. The incidence of congenital malformations in newborns of mothers residing in the country was 141.9/10 000 of newborns born in the country. It was also noted that the incidence of congenital malformations was 2–3 times higher in children with low birth weight in comparison to the general population. The highest incidence of congenital malformations was found in those children whose mothers were 35 years of age or older at the time of giving birth. Advanced maternal age was the most significant factor in the development of malformations caused by chromosome aberrations. Creating a district map presenting the incidence of malformations may be the first step to further research concerning those specific geographical regions at high risk of congenital malformations. The highest incidence, irrespective of the type of malformation, was observed in the districts of: Mrągowo, Ostróda and Braniewo, whereas the lowest was found in the districts of: Ełk, Olecko and Gołdap, and Giżycko. <b>Conclusions.</b> Having analysed all pertinent data, it was then concluded that: 1. Male sex correlates with the incidence of congenital malformations of the genitals. 2. Low birth weight correlates with an increased incidence of congenital malformations. 3. The incidence of congenital malformations in particular districts is diversified, pointing to the significance of necessary further research in order to identify those specific geographical locations having the highest malformations incidence factors.

YY1 Is a Key Player in Melanoma Immunotherapy/Targeted Treatment Resistance.

Malignant melanoma, with its increasing incidence and high potential to form metastases, is one of the most aggressive types of skin malignancies responsible for a significant number of deaths worldwide. However, melanoma also demonstrates a high potential for induction of a specific adaptive anti-tumor immune response being one of the most immunogenic malignancies. Yin Yang 1 (YY1) transcription factor is essential to numerous cellular processes and the regulation of transcriptional and posttranslational modifications of various genes. It regulates programmed cell death 1 (PD1) and lymphocyte-activation gene 3 (LAG3) by binding to its promoters, as well as suppresses both Fas and TRAIL by negatively regulating DR5 transcription and expression and interaction with the silencer region of the Fas promoter, rendering cells resistant to apoptosis. Moreover, YY1 is considered a master regulator in various stages of embryogenesis, especially in neural crest stem cells (NCSCs) survival and proliferation as it acts as transcriptional repressor on cancer stem cells-related transcription factors. In addition, YY1 increases the metastatic potential of melanoma through negative regulation of microRNA-9 (miR-9) expression, acts as a cofactor of transcription factor EB (TFEB) and contributes to autophagy regulation, mainly due to increased transcription of genes related to autophagy and lysosome biogenesis. Therefore, focusing on the detailed biology and administration of therapies that directly target YY1 or crosstalk pathways in malignant melanoma could facilitate the development of new and more effective treatment strategies and improve patients’ outcomes.

Genome-wide identification of Aux/IAA and ARF gene families in bread wheat (Triticum aestivum L.).

Wheat (Triticum aestivum L.) is one of the most important food crops in the world. Somatic embryogenesis is an event that is triggered by the presence of auxin hormone for the induction of somatic cells to get converted to embryonic cells. Somatic embryogenesis represents the most important process of totipotency of plants. The role of auxins is widely understood during various stages of embryogenesis including polarity establishment, de-differentiation, re-differentiations, and morphogenesis. Many of the Aux/IAAs and ARFs which are part of auxin signaling components have been identified to play various roles during embryogenesis. In this analysis, the Aux/IAAs and ARFs of T. aestivum have been analyzed at the genome-scale; their structure, function, and evolutionary relatedness were determined. Several Aux/IAAs and ARFs components of T. aestivum have been found to exclusively regulate axis formation, meristem commitment, and other re-differentiation processes by differential expression studies.

The Anti-Tumoral Potential of Phosphonate Analog of Sulforaphane in Zebrafish Xenograft Model.

Isothiocyanates (ITCs) show strong activity against numerous human tumors. Five structurally diverse ITCs were tested in vivo using the zebrafish embryos 6 and 48 h post-fertilization (hpf). The survival rate, hatching time, and gross morphological changes were assessed 24, 48, and 72 h after treatment with all compounds in various doses (1–10 µM). As a result, we selected a phosphonate analog of sulforaphane (P-ITC; 1–3 µM) as a non-toxic treatment for zebrafish embryos, both 6 and 48 hpf. Furthermore, the in vivo anti-cancerogenic studies with selected 3 µM P-ITC were performed using a set of cell lines derived from the brain (U87), cervical (HeLa), and breast (MDA-MB-231) tumors. For the experiment, cells were labeled using red fluorescence dye Dil (1,1′-Dioctadecyl-3,3,3′,3′-Tetramethylindocarbocyanine, 10 μg/mL) and injected into the hindbrain ventricle, yolk sac region and Cuvier duct of zebrafish embryos. The tumor size measurement after 48 h of treatment demonstrated the significant inhibition of cancer cell growth in all tested cases by P-ITC compared to the non-treated controls. Our studies provided evidence for P-ITC anti-cancerogenic properties with versatile activity against different cancer types. Additionally, P-ITC demonstrated the safety of use in the living organism at various stages of embryogenesis.

Somatic embryogenesis in Larix: the state of art and perspectives.

Clonal propagation of conifers using somatic embryogenesis is essential for the selection of tree species, and for the implementation of afforestation and reforestation. In combination with cryopreservation, somatic embryogenesis creates the basis for the development of economically valuable lines of clones and elite genotypes. The industrial use of such genetically verified clone lines in forestry can significantly increase forest productivity compared to any conventional methods for improving tree crops that are available. Larch is considered as one of the main conifer candidates for large-scale reforestation, not only due to the vastness of its habitat, but also due to the unique quality of its wood, rapid growth and high ecological plasticity. However, the vast majority of larch species are characterized by uneven yields and extremely low seed quality. In this regard, obtaining planting material for reforestation from larch seeds on seed plantations is not advisable, but can be successfully implemented in afforestation programs using somatic embryogenesis technologies. Research on the somatic embryogenesis of larch has been conducted for over 30 years, which allowed considerable experience in this field to be accumulated. To date, the conditions for the initiation and maintenance of embryogenic cultures, as well as for the formation and development of somatic embryos have been determined. Significant progress has been made in the study of both the factors affecting these processes and the molecular mechanisms that underlie the various stages of embryogenesis. Nevertheless, despite the successes achieved, knowledge available today on the somatic embryogenesis of representatives of the genus Larix is still not enough to develop technologies for producing valuable plant-breeding material in vitro. This review analyzes the current state of research on the problem of somatic embryogenesis of representatives of the genus Larix. Particular attention is paid to the choice of explants for somatic embryogenesis, the composition of the media for cultivation, the dependence of the potential of somatic embryogenesis on the duration of cultivation, and the genetic control of somatic embryogenesis.

The Roles of the Wnt-Antagonists Axin and Lrp4 during Embryogenesis of the Red Flour Beetle Tribolium castaneum.

In both vertebrates and invertebrates, the Wnt-signaling pathway is essential for numerous processes in embryogenesis and during adult life. Wnt activity is fine-tuned at various levels by the interplay of a number of Wnt-agonists (Wnt ligands, Frizzled-receptors, Lrp5/6 coreceptors) and Wnt-antagonists (among them Axin, Secreted frizzled and Lrp4) to define anterior–posterior polarity of the early embryo and specify cell fate in organogenesis. So far, the functional analysis of Wnt-pathway components in insects has concentrated on the roles of Wnt-agonists and on the Wnt-antagonist Axin. We depict here additional features of the Wnt-antagonist Axin in the flour beetle Tribolium castaneum. We show that Tc-axin is dynamically expressed throughout embryogenesis and confirm its essential role in head development. In addition, we describe an as yet undetected, more extreme Tc-axin RNAi-phenotype, the ectopic formation of posterior abdominal segments in reverse polarity and a second hindgut at the anterior. For the first time, we describe here that an lrp4 ortholog is involved in axis formation in an insect. The Tribolium Lrp4 ortholog is ubiquitously expressed throughout embryogenesis. Its downregulation via maternal RNAi results in the reduction of head structures but not in axis polarity reversal. Furthermore, segmentation is impaired and larvae develop with a severe gap-phenotype. We conclude that, as in vertebrates, Tc-lrp4 functions as a Wnt-inhibitor in Tribolium during various stages of embryogenesis. We discuss the role of both components as negative modulators of Wnt signaling in respect to axis formation and segmentation in Tribolium.

Endovascular Treatment of Congenital External Carotid-Jugular Fistula: Case Report and Review of the Literature

Congenital vascular malformation (CVM) between the external carotid artery and the internal jugular vein is a rare disease, it originates as a consequence of arrested development during various stages of embryogenesis. The natural history of CMVs is progressive growth, it can remain clinically silent until it progresses causing local swelling accompanied by symptoms and signs of arteriovenous shunting, mass effect, ischemic insult with ulceration of skin or bleeding. In literature only few cases of CMVs have been reported, therefore there is still no consensus about the correct surgical approach to this pathology. We report an uncomplicated case of CVMs in a 15-year-old female successfully treated with coils embolization. To our knowledge, this is the eighth reported case in the literature review.

Imaging in ductal plate malformations.

Ductal plate malformations are a heterogenous group of congenital fibrocystic liver diseases resulting from insult to the ductal plate at various stages of embryogenesis. As a result various biliary malformations, cysts, hamartomas and congenital hepatic fibrosis may be seen. We present a radiological pictorial of ductal plate malformations, accurate diagnosis of which is important for clinical management.

Serum concentrations of the biomarkers CA125, CA15-3, PSA and PAPP-A in early pregnancy

Blood samples were collected serially from 14 women with healthy pregnancies, beginning in gestational week 4 at the time of a positive pregnancy test through to the identification of a foetal heart by ultrasound. Six biomarkers were measured in the serum retrospectively including two reproductive hormones (progesterone and human chorionic gonadotrophin (hCG)) and four additional biomarkers (prostate-specific antigen (PSA), cancer antigen 15-3 (CA15-3), cancer antigen 125 (CA125) and pregnancy-associated plasma protein A (PAPP-A)) measured on a Siemens Centaur XP and a Roche Cobas e411 automated analysers, respectively. The progesterone and hCG results were unremarkable following established patterns, but distinctive patterns of change were seen in the other four biomarkers during this period of early pregnancy. PAPP-A and PSA levels rose steadily as the pregnancies progressed, while CA125 levels rose until week 5.5 and then returned to baseline values. CA15-3 serum concentrations were observed to drop as the pregnancies progressed. These biomarker results suggest further investigation is warranted to allow a non-invasive correlation of the biomarkers with the various stages of embryogenesis, implantation and placentation.

Genome-wide snapshot of chromatin regulators and states in Xenopus embryos by ChIP-Seq.

The recruitment of chromatin regulators and the assignment of chromatin states to specific genomic loci are pivotal to cell fate decisions and tissue and organ formation during development. Determining the locations and levels of such chromatin features in vivo will provide valuable information about the spatio-temporal regulation of genomic elements, and will support aspirations to mimic embryonic tissue development in vitro. The most commonly used method for genome-wide and high-resolution profiling is chromatin immunoprecipitation followed by next-generation sequencing (ChIP-Seq). This protocol outlines how yolk-rich embryos such as those of the frog Xenopus can be processed for ChIP-Seq experiments, and it offers simple command lines for post-sequencing analysis. Because of the high efficiency with which the protocol extracts nuclei from formaldehyde-fixed tissue, the method allows easy upscaling to obtain enough ChIP material for genome-wide profiling. Our protocol has been used successfully to map various DNA-binding proteins such as transcription factors, signaling mediators, components of the transcription machinery, chromatin modifiers and post-translational histone modifications, and for this to be done at various stages of embryogenesis. Lastly, this protocol should be widely applicable to other model and non-model organisms as more and more genome assemblies become available.

Genome-wide Snapshot of Chromatin Regulators and States in <em>Xenopus</em> Embryos by ChIP-Seq

The recruitment of chromatin regulators and the assignment of chromatin states to specific genomic loci are pivotal to cell fate decisions and tissue and organ formation during development. Determining the locations and levels of such chromatin features in vivo will provide valuable information about the spatio-temporal regulation of genomic elements, and will support aspirations to mimic embryonic tissue development in vitro. The most commonly used method for genome-wide and high-resolution profiling is chromatin immunoprecipitation followed by next-generation sequencing (ChIP-Seq). This protocol outlines how yolk-rich embryos such as those of the frog Xenopus can be processed for ChIP-Seq experiments, and it offers simple command lines for post-sequencing analysis. Because of the high efficiency with which the protocol extracts nuclei from formaldehyde-fixed tissue, the method allows easy upscaling to obtain enough ChIP material for genome-wide profiling. Our protocol has been used successfully to map various DNA-binding proteins such as transcription factors, signaling mediators, components of the transcription machinery, chromatin modifiers and post-translational histone modifications, and for this to be done at various stages of embryogenesis. Lastly, this protocol should be widely applicable to other model and non-model organisms as more and more genome assemblies become available.

Comparative biochemical profiling during the stages of acquisition and development of somatic embryogenesis in African oil palm (Elaeis guineensis Jacq.)

In this study, the different stages of somatic embryogenesis (SE) of the African oil palm (Elaeis guineensis Jacq.) were characterized biochemically. The total soluble sugars, starch, total free amino acids, and total proteins were extracted, identified and quantified at various stages of embryogenesis: zygotic embryos (initial explants), primary calluses, embryogenic calluses, calluses with pro-embryos, globular embryos, differentiated somatic embryos, and regenerated plants. It was found that at the onset of induction of SE, the level of soluble sugars in the tissues of the explants fell by half. During this period, the total soluble sugars present in the cultures consisted basically of glucose and fructose. In the process of regeneration and maturation, the concentrations of soluble sugars gradually increased, reaching the highest values in the last two stages of development. At this stage, the disaccharide sucrose accounts for more than 80 % of the composition of total soluble sugars in the explants. Compared to starch, we found that the concentrations thereof in developing tissues are inversely proportional to that of soluble sugars virtually throughout embryogenic development. As for free amino acids, we found that after 30 days of induction until formation of the embryogenic calluses, there is an accentuated synthesis of total free amino acids in the explant tissue. In this stage, there was a significant increase in the levels of alanine and serine in the tissues. However, after the formation of the embryogenic calluses, the levels of total free amino acids present in the cultures become stabile and remain constant until the end of cultivation. Similar results were found for total protein, which also showed a significant increase at the onset of induction, undergoing slight changes during the remainder of the cultivation.

Contemporary diagnosis of venous malformation

Contemporary diagnosis of venous malformation BB Lee,1 I Baumgartner21Department of Surgery, George Washington University, Washington, DC, USA; 2Swiss Cardiovascular Center, University Hospital Bern, Bern, SwitzerlandAbstract: Venous malformation is a congenital vascular malformation resulting from defective development during various stages of embryogenesis and selectively affecting the venous system. Depending on the embryologic stage when the developmental arrest occurred, the clinical presentation of venous malformation is extremely variable in location, extent, severity, natural progression, and hemodynamic impact. Extratruncular lesions occur in the earlier stages of embryonic life, and retain characteristics unique to mesenchymal cells (angioblasts), growing and proliferating when stimulated internally (eg, by menarche, pregnancy, and hormones) or externally (eg, by trauma or surgery). These lesions also have a significant hemodynamic impact on the venous system involved, in addition to the risk of localized intravascular coagulopathy. However, truncal lesions, as defective developments along the late stage, no longer carry the risk of proliferation and recurrence due to lack of mesenchymal characteristics. Although, they often have serious hemodynamic consequences due to direct involvement of the main vein trunk. Therefore, a thorough clinical history and careful physical examination should be followed by an appropriate combination of noninvasive and less invasive tests (eg, Doppler ultrasonography, magnetic resonance imaging, computed tomography) to confirm the clinical impression as well as to define the extent and severity of the venous malformation. Invasive tests, eg, phlebography or angiography, are seldom needed for the diagnosis per se. Additional evaluation for coagulation abnormalities, eg, D-dimer and fibrinogen levels, is generally recommended, especially for the treatment of surgery and endovascular candidates with extensive lesions to assess the localized intravascular coagulopathy status. Localized intravascular coagulopathy may cause serious thrombohemorrhagic events, including deep venous thrombosis and pulmonary embolism.Keywords: venous malformation, extratruncular lesions, truncal lesions, noninvasive tests, less invasive tests, localized intravascular coagulopathy

Rapid 3D Phenotyping of Cardiovascular Development in Mouse Embryos by Micro-CT With Iodine Staining

Microcomputed tomography (micro-CT) has been used extensively in research to generate high-resolution 3D images of calcified tissues in small animals nondestructively. It has been especially useful for the characterization of skeletal mutations but limited in its utility for the analysis of soft tissue such as the cardiovascular system. Visualization of the cardiovascular system has been largely restricted to structures that can be filled with radiopaque intravascular contrast agents in adult animals. Recent ex vivo studies using osmium tetroxide, iodinated contrast agents, inorganic iodine, and phosphotungstic acid have demonstrated the ability to stain soft tissues differentially, allowing for high intertissue contrast in micro-CT images. In the present study, we demonstrate the application of this technology for visualization of cardiovascular structures in developing mouse embryos using Lugol solution (aqueous potassium iodide plus iodine). We show the optimization of this method to obtain ex vivo micro-CT images of embryonic and neonatal mice with excellent soft-tissue contrast. We demonstrate the utility of this method to visualize key structures during cardiovascular development at various stages of embryogenesis. Our method benefits from the ease of sample preparation, low toxicity, and low cost. Furthermore, we show how multiple cardiac defects can be demonstrated by micro-CT in a single specimen with a known genetic lesion. Indeed, a previously undescribed cardiac venous abnormality is revealed in a PlexinD1 mutant mouse. Micro-CT of iodine-stained tissue is a valuable technique for the characterization of cardiovascular development and defects in mouse models of congenital heart disease.

Congenital malformations of the inner ear: a classification based on embryogenesis.

Approximately 20% of patients with congenital sensorineural hearing loss have radiographic abnormalities of the inner ear. A broad spectrum of anomalous patterns have been described, most of which have been lumped together under the term "Mondini's dysplasia." We feel that this grouping of many dissimilar entities under a single umbrella term is unwarranted. Based on a review of 63 patients with 98 congenitally malformed ears, we have been able to recognize a number of distinct anatomic patterns from their radiographic appearance. A remarkable similarity between these morphologies and the appearance of the inner ear at various stages of embryogenesis was found. This led us to propose a classification system based upon the theory that these deformities result from an arrest of development during varying stages of inner ear organogenesis.

Cultural conditions affect somatic embryogenesis in Catharanthus roseus L. (G.) Don

We established an efficient plant regeneration system for Catharanthus roseus L. (G.) Don through somatic embryogenesis. Embryogenic callus was induced from hypocotyl of seed germinated in vitro. Somatic embryogenesis in Catharanthus has been categorized into three distinct stages: (1) initiation and proliferation of embryo; (2) maturation, and; (3) germination or plantlet conversion. Beside plant growth regulators, various stages of embryogenesis were screened for their response to a wide variety of factors (pH, gelrite, light, sugar alcohols, polyethyleneglycol and amino acids), which affect embryogenesis. All of the tested factors had a small to marked influence on embryogeny and eventual conversion to plantlets. The plantlets were acclimatized successfully in a greenhouse. To our knowledge, this is the first report describing a detailed study of various cultural factors which regulate embryogenesis in C. roseus. The results discussed in this paper may be used in mass propagation to produce medicinal raw material, and the embryo precursor cells could be used in genetic modification programmes that aim to improve the alkaloid yield as well.

Terminology and classification of congenital vascular malformations

Venous malformation (VM) is a congenital vascular malformation (CVM) that develops along the venous system through the various stages of embryogenesis. Older terminology and classification were often misleading and confusing. A newer classification system has emerged that is based on advances in the study of these conditions and is useful in contemporary management. The Hamburg classification was introduced after reappraisal of older terminology and has become the standard system for contemporary classification, which is based on anatomical, pathological and embryological criteria.

Terminology and Classification of Congenital Vascular Malformations

Venous malformation (VM) is a congenital vascular malformation (CVM) that develops along the venous system through the various stages of embryogenesis. Older terminology and classification were often misleading and confusing. A newer classification system has emerged that is based on advances in the study of these conditions and is useful in contemporary management. The Hamburg classification was introduced after reappraisal of older terminology and has become the standard system for contemporary classification, which is based on anatomical, pathological and embryological criteria.