Eye diseases associated with developmental abnormality of neural crest / 国际眼科杂志(Guoji Yanke Zazhi)

The neural crest represents a dynamic population of embryonic stem cells, playing a pivotal role in the development of the eye. Through interactions with the surrounding neuroectoderm, superficial ectoderm and mesoderm, the neural crest contributes to the formation of numerous ocular structures, encompassing the corneal stroma and endothelium, trabecular meshwork, iris stroma, ciliary muscle, vitreous and choroidal vessels, and Müller cells. Aberrant migration and development of neural crest cells within the eye can instigate a complex series of ocular diseases. Such diseases include anterior segment like Axenfeld-Rieger syndrome, Peters anomaly, aniridia, primary congenital glaucoma, and Nail-Patella syndrome. Defects that impact the posterior segment may lead to CHARGE syndrome and Branchio-oculo-facial syndrome. Further, rare neurocristopathies such as Waardenburg syndrome, Treacher-Collins syndrome, and Char syndrome can also present with ocular abnormalities. In this review, we explore the ocular diseases that arise from abnormal neural crest cell development, and delve into the related genes involved in neural crest migration and development. We further discuss how mutations and defects in these genes can precipitate ocular diseases.

Research progress on the regulation of craniofacial development and malformation by fibroblast growth factor 8 / 口腔疾病防治

@#Fibroblast growth factor 8 (FGF8) is a kind of secretory polypeptide that has crucial roles in the development of various tissues and organs. Current studies have found that FGF8 can regulate the differentiation of cranial neural crest cells by activating the mitogen-activated protein kinase (MAPK) signaling pathway and affect the establishment of mandibular arch polarity and the development of craniofacial symmetry by regulating the expression of target genes. Cleft lip with or without cleft palate, ciliopathies, macrostomia and agnathia are four developmental malformations involving the craniofacial region that seriously affect the quality of life of patients. The abnormal FGF8 signal caused by gene mutation, abnormal protein conformation or expression is closely related to the occurrence of craniofacial malformations, but the molecular mechanism and signaling pathway underlying these malformations have not been fully elucidated. Craniofacial development is a complex process mediated by a variety of signaling molecules. In the future, the role of various signaling molecules in craniofacial development and malformations need to be explored to provide a new perspective and vision for the prevention and treatment of these craniofacial malformations.

Promoting effect of nicotinamide on generation of neural crest stem cells derived from human embryonic stem cells / 中华实验眼科杂志

Objective:To investigate the role of nicotinamide (NIC) in the differentiation of neural crest cells from human embryonic stem cells (hESCs), and lay the foundation for the induction of hESC-derived corneal endothelial cells.Methods:hESCs line H1 cultured for 5-7 days was used for induction.According to the different components of the neural crest induction medium, cells were assigned into different groups for 7-days induction, including group treated without NIC cultured in induction medium only, group treated with NIC cultured in induction medium containing 10 mmol/L NIC, NIC+ resveratrol (Res) group cultured in induction medium containing 10 mmol/L NIC and 10 μmol/L Res and Sirtinol group cultured in induction medium containing 10 μmol/L Sirtinol.Res and Sirtinol were used as SIRT1 activity agonist and inhibitor, respectively.The relative mRNA expression levels of hESCs and neural crest cell markers were detected by real-time fluorescence quantitative PCR at 1, 3, 5 and 7 days during the induction.The expression of neural crest cells markers after 7 days of induction was assayed by immunofluorescence staining.The induction efficiency of NIC and the effect of SIRT1 regulation on human natural killer 1 (HNK-1) positive cells expression were evaluated through flow cytometry analysis of percentages of nerve growth factor receptor (P75) and HNK-1 + cells. Results:Compared with the group treated without NIC, the mRNA expressions of totipotent genes octamer transcription factor 4 (OCT4) and homeodomain proteins (NANOG) were significantly decreased, and the mRNA expression levels of neural crest cell markers P75, HNK-1, SRY-related HMG box (SOX) 9 and SOX10 were significantly increased in the group treated with NIC after 5 days of induction (all at P<0.05). In the group treated without NIC, P75 was weakly expressed, and HNK-1 was sporadically expressed, and transcription factor AP-2β (AP-2β) and paired-like homeodomain transcription factor 2 (PITX2) were not detected.In the group treated with NIC, P75, HNK-1, AP-2β and PITX2 were strongly expressed.The proportion of P75 + HNK-1 + cells and P75 + cells were both significantly higher in the group treated with NIC than without NIC ( t=8.481, P=0.001; t=2.987, P=0.041). The percentage of HNK-1 + cells in groups treated without and with NIC, NIC+ Res group and Sirtinol group were (34.267±12.522)%, (89.633±1.358)%, (64.667±6.429)% and (86.300±3.460)%, respectively, with a statistically significant overall difference ( F=36.799, P<0.001). The proportion of HNK-1 + cells in NIC+ Res group was significantly lower than that in the groups treated with NIC and Sirtinol (all at P<0.05). Conclusions:NIC promotes the differentiation of hESCs-derived neural crest cells by inhibiting the activity of SIRT1 to enhance the expression of HNK-1.NIC treatment may provide a new strategy for source of seed cells in the treatment of neural crest cell-related diseases, such as corneal endothelial transplantation.

A downtrend of mesenchymal cells derived from the second heart field and cardiac neural crest in the outflow tract of cx43 knockout embryonic mouse heart / 中国组织工程研究

BACKGROUND: Cx43 plays an important role in human congenital heart disease. However, there is still no consistent conclusion about the formation mechanism of cardiac malformation in Cx43 knockout mouse embryos. OBJECTIVE: To investigate the cardiac development defects and the migration and differentiation of progenitor cells of the second heart field and cardiac neural crest in Cx43 knockout mouse embryo. METHODS: Serial sections of Cx43 gene knockout homozygous (Cx43-/-) mouse and Cx43 wild-type (Cx43+/+) mouse embryos from embryonic day (ED) 10 to ED13 were made for immunohistochemical and immunofluorescent staining, and three-dimensional reconstruction of the heart. RESULTS AND CONCLUSION: (1) In Cx43 gene knockout mouse embryos at ED10-ED11, Isl1 positive second heart field cells in the ventral mesenchyme of the foregut extended through the area between the bilateral arch arteries to the dorsal wall of pericardial cavity. Meanwhile, Isl1 positive cells in the core mesenchyme of the branchial arches were continuous with those in the dorsal wall of pericardial cavity and the distal wall of the outflow tract. At ED13, the distribution of Isl1 positive cells was observed in the wall of the ascending aorta and pulmonary trunk as well as the wall of the left and right outflow tracts of the septated ventricles. However, compared with wild-type mouse embryos, fewer Isl1 positive second heart field cells were found in Cx43 gene knockout mouse embryos (P < 0.01). (2) During ED10 to ED11, Ap2α positive neural crest cells were still found in the wall of the arch artery and the dorsal and ventral walls of the aortic sac in Cx43 gene knockout mouse embryos, but the number of neural crest cells was less than that of wild-type mouse embryos (P < 0.01). (3) These results indicate that the migration path and distribution pattern of Isl1 positive second heart field cells and Ap2α positive cardiac neural crest cells are similar between the Cx43 gene knockout and wild-type mouse embryos, but the number of two kinds of migrating cells is reduced after Cx43 gene knockout. This suggests that in addition to cardiac neural crest derived cells, the decrease of second heart field progenitor cells might be involved in the formation of outflow tract malformations in Cx43 knockout mouse embryos.

Neural crest stem cells can be induced in vitro from human-induced pluripotent stem cells using a novel protocol free of feeder cells / Journal of Rural Medicine

Objective: Our knowledge of human neural crest stem cells (NCSCs) is expanding, owing to recent advances in technologies utilizing human-induced pluripotent stem cells (hiPSCs) that generate NCSCs. However, the clinical application of these technologies requires the reduction of xeno-materials. To overcome this significant impediment, this study aimed to devise a novel method to induce NCSCs from hiPSCs without using a feeder cell layer.Materials and Methods: hiPSCs were cultured in feeder-free maintenance media containing the Rho-associated coiled-coil forming kinase inhibitor Y-27632. When the cells reached 50–70% confluence, differentiation was initiated by replacing the medium with knockout serum replacement (KSR) medium containing Noggin and SB431542. The KSR medium was then gradually replaced with increasing concentrations of Neurobasal medium from day 5 to 11.Results: Immunocytochemistry and flow cytometry were performed 12 days after induction of differentiation and revealed that the cells generated from hiPSCs expressed the NCSC markers p75 and HNK-1, but not the hiPSC marker SOX2.Conclusion: These findings demonstrate that hiPSCs were induced to differentiate into NCSCs in the absence of feeder cells.

Cresta neural, cuarta hoja, germinativa embrionaria / Neural crest, fourth embryonary germinative leaf

RESUMEN Las células de la cresta neural son pluripotenciales y son llamadas la cuarta hoja germinativa del embrión. Con el objetivo de estructurar los referentes teóricos actualizados que sustenten la afirmación precedente y que constituirá material de estudio para los estudiantes de las Ciencias Médicas, se realizó la revisión de 28 referencias bibliográficas, de ellas 89% actualizadas. Estas células aparecen durante la neurulación y pasado este proceso transitan de epitelial a mesenquimatosa; migran siguiendo señales de la matriz extracelular a todo el cuerpo del embrión diferenciándose en tejidos disimiles. Muy vinculados en su evolución a mecanismos epigenéticos, hacen a esta población celular vulnerables a ser dañadas invocándose en la etiología de diferentes defectos congénitos y enfermedades crónicas no trasmisibles como cáncer. Como conclusión por su pluripotencialidad y por los mecanismos moleculares que distinguen su evolución son consideradas por muchos autores la cuarta hoja germinativa del embrión (AU).

SUMMARY Neural crest cells are pluripotentials, and are called the fourth germinative leaf of the embryo. With the objective of structuring the updated theoretical referents backing up the precedent affirmation that will be study material for the students of Medical Sciences, the authors reviewed 28 bibliographic references, 89 % of them updated. These cells appear during neurulation and after this process they transit from epithelial to mesenchymal; following extracellular matrix signals, they migrate to the whole embryo body differentiating themselves in dissimilar tissues. Tightly related in their evolution to epigenetic mechanisms, this cell population is very likely to be damaged and so they are invoked in the etiology of different congenital defects and noncommunicable chronic diseases like cancer. In conclusion, due to their pluripotentiality and the molecular mechanisms distinguishing their evolution, many authors consider them the embryo´s fourth germinative leaf (AU).

La singularidad de los maxilares dentro del sistema esquelético / Singularity of the jaws within the skeletal system

En la odontología es frecuente que se describa la peculiaridad de los huesos maxilares en cuanto a la resistencia a las infecciones en comparación con otros huesos de la economía. O que se plantée un desafío cuando es necesario tomar una decisión acerca de aplicar diferentes conductas terapéuticas en pacientes con patologías óseas sistémicas. Por ello, esta actualización tuvo como objetivo realizar una revisión de la bibliografía para integrar y evidenciar las diferencias y similitudes entre los diferentes huesos de la economía haciendo hincapié en los huesos maxilares. Si bien éstos poseen una gran cantidad de similitudes con el resto de los huesos, también presentan diferencias que los hacen entidades únicas dentro del sistema esquelético como el origen embriológico en las células de las crestas neurales, su alta tasa de remodelación, sin olvidar que estos huesos alojan a órganos que poseen una parte de su estructura en el medio interno y otra porción en medio externo de la cavidad bucal: las piezas dentarias (AU)

Pathogenic genes and clinical therapeutic strategies for Treacher Collins syndrome / 华西口腔医学杂志

Treacher Collins syndrome is a congenital craniofacial malformation with autosomal dominant inheritance as the main genetic pattern. In this condition, the biosynthesis of ribosomes in neural crest cells and neuroepithelial cells is blocked and the number of neural crest cells that migrate to the craniofacial region decreases, causing first and second branchial arch dysplasia. Definite causative genes include treacle ribosome biogenesis factor 1 (tcof1), RNA polymerase Ⅰ and Ⅲ subunit C (polr1c), and RNA polymerase Ⅰ and Ⅲ subunit D (polr1d). This paper provides a review of research of three major patho-genic genes, pathogenesis, phenotypic research, prevention, and treatment of the syndrome.

Embryological Consideration of Dural AVFs in Relation to the Neural Crest and the Mesoderm / 신경중재치료의학

Intracranial and spinal dural arteriovenous fistulas (DAVFs) are vascular pathologies of the dural membrane with arteriovenous shunts. They are abnormal communications between arteries and veins or dural venous sinuses that sit between the two sheets of the dura mater. The dura propria faces the surface of brain, and the osteal dura faces the bone. The location of the shunt points is not distributed homogeneously on the surface of the dural membrane, but there are certain areas susceptible to DAVFs. The dura mater of the olfactory groove, falx cerebri, inferior sagittal sinus, tentorium cerebelli, and falx cerebelli, and the dura mater at the level of the spinal cord are composed only of dura propria, and these areas are derived from neural crest cells. The dura mater of the cavernous sinus, transverse sinus, sigmoid sinus, and anterior condylar confluence surrounding the hypoglossal canal are composed of both dura propria and osteal dura; this group is derived from mesoderm. Although the cause of this heterogeneity has not yet been determined, there are some specific characteristics and tendencies in terms of the embryological features. The possible reasons for the segmental susceptibility to DAVFs are summarized based on the embryology of the dura mater.

Progress of heart and neural crest derivatives-expressed transcript 2 gene in endometrial carcinoma / 肿瘤研究与临床

The neural crest derivatives expressed 2 (Hand2) is one of the most important transcription factors in the basic helix-hoop-helix (bHLH) protein family. It is expressed in a variety of organ tissues, which regulates the differentiation of multiple stem cells into end cells. Endometrial carcinoma is one of the three major reproductive system tumors that pose a serious threat to women's health, and its pathogenesis is not yet clear. Recent studies have shown that the Hand2 gene is a kind of methylation hotspot in endometrial carcinoma, which is closely related to the development of endometrial carcinoma. This review describes the progress of Hand2 gene in endometrial cancer.

Progress on the regulation of DNA methylation in the development of the enteric nervous system / 国际儿科学杂志

The enteric nervous system consists of a network of neurons,neurotransmitters,proteins and its supporting cells in the lining of the gastrointestinal wall. The embryonic development of ENS originates from neural crest stem cells,which start to proliferate and migrate from the neural crest to the mesoderm along the head and tail,and finally migrate into the mesenchyme and form ENS. DNA methylation plays an important role in cell proliferation or differentiation in the process of embryonic development. DNA methylation is regulated by DNA methylation transferase,and the methylation state of the genes is passed on to the offspring in the process of cell proliferation differentiation. DNA methylation is the most profound and extensive mechanism in epigenet-ics research. Thus,this article is to review the recent advances in the effects of epigenetic regulation on the devel-opment of the enteric nervous system.

Mechanisms of folate metabolism disorder involved in congenital heart disease / 国际儿科学杂志

Folate involves in one-carbon metabolism pathway,which contributes to nucleotide synthesis,amino acid transformation and methylation.Early embryo development requires a number of cell proliferation and differentiation,in which folate plays a vital role.Studies revealed folate supplement lowers the incidence of congenital heart disease (CHD),and single nucleotide polymorphisms of key enzyme in folate metabolism are closely related to CHD.Folate metabolism disorder may cause hyperhomocysteinemia,which is considered as one of the independent risk factors of CHD.Mechanism in folate metabolism disorder and CHD is unclear,and studies indicate that folate metabolism disorder may lead to CHD by various ways,such as perturbing cardiac neural crest formation and migration,inhibiting DNA synthesis and interfering cell proliferation and apoptosis.Therefore,it is important to explore the role of folate metabolism disorder in CHD,which will be helpful in preventing the disease and reducing the disease burden.

The expressions of ALX family genes in human neural crest cells and their derived cells / 中华整形外科杂志

Objective@#To compare the expressions of ALX gene family members (ALX1, ALX3, ALX4) in human embryonic stem cells (hESCs) and their differentiated neural crest cells (NCCs), as well as human mesenchymal stem cells (MSCs) and peripheral neurons derived from NCCs. The result provided a research foundation for understanding the expressions of ALX gene family in the process of NCCs differentiation.@*Methods@#The characteristics of hESCs, NCCs, MSCs and peripheral neurons were identified by RT-PCR, immunofluorescence staining and flow cytometry analysis. The expressions of ALX1, ALX3 and ALX4 were quantified by Real-time PCR.@*Results@#The expressions of ALX1 were significantly lower in MSCs than in NCCs (P < 0.05). However, the expression of ALX3 was significantly higher in MSCs than in hESCs, NCCs, peripheral neurons and osteoblasts (P < 0.05). The expressions of ALX4 were higher in MSCs, peripheral neurons and osteoblasts.@*Conclusions@#The expression profiles of different ALX genes in stem cells at different development stages are different, suggesting the regulation of ALX genes expressions is different in diverse cells.

Células de la cresta neural y su relación con cardiopatía congénita: revisión sistemática de la literatura / Neural crest cells and their relation to congenital heart disease: systematic review of the literature

Las cardiopatías congénitas corresponden al grupo de anomalías del desarrollo que se presentan con mayor frecuencia. Durante el desarrollo cardíaco participan distintos linajes celulares, donde destacan las Células de la Cresta Neural (CCN) por su amplia gama de derivados embriológicos y la susceptibilidad de afectar a múltiples sistemas si su función es alterada. El objetivo fue determinar el rol que cumplen las CCN durante el desarrollo cardíaco y las cardiopatías congénitas asociadas. Se diseñó un estudio descriptivo en base a una revisión sistemática de la literatura de las bases de datos MEDLINE y Scopus, utilizando la combinación de términos MeSH: ("Heart Diseases/congenital" OR "Heart Diseases/embriology" OR "Heart Diseases/etiology" OR "Heart Disesaes/epidemiology") AND ("Neural Crest/abnormalities"). Se restringió la búsqueda a artículos de los últimos 10 años. De un total de 35 artículos obtenidos, 22 fueron incluidos para su revisión por estar relacionados con los objetivos de este estudio, excluyéndose duplicados entre bases de datos. Posteriormente se hizo un análisis individual y en conjunto de la información obtenida de los artículos seleccionados. La evidencia indica la participación directa o indirecta de las CCN durante la formación de las estructuras derivadas del polo arterioso del corazón en desarrollo, los grandes vasos arteriales y sus ramas colaterales, así como en su inervación y sistema de conducción. La alteración del funcionamiento normal de las CCN produce fenotipos cardíacos alterados, siendo la persistencia del tronco arterioso, doble salida ventricular derecha, defectos septales interventriculares y malformación de los aparatos valvares aórtico y pulmonar, los más frecuentes.

Congenital heart defects are the group of most frequent anomalies of development. Cardiac development in different cell lines, which include the Neural crest cells (NCC) for their wide range of embryological derivatives and susceptibility to affect multiple systems if their function is altered participate. The objective was to determine the role of the NCC during heart development and associated congenital heart disease. A descriptive study was designed based on a systematic review of the literature from the MEDLINE and Scopus data, using a combination of MeSH terms ("Heart Diseases / congenital" OR "Heart Diseases / Embryology" OR "Heart Diseases/etiology "OR" Heart Diseases/epidemiology ") AND ("Neural Crest/abnormalities"). Search for articles in the last 10 years was restricted. From a total of 35 articles retrieved, 22 were included related to the objectives of this study for review, excluding duplicated between databases. Subsequently, an individual and joint analysis was realized with the information from the selected items. Evidence indicates the direct or indirect involvement of NCC during the formation of the structures derived from arterial pole of the developing heart, the large arterial vessels and their collateral branches, as well as its innervation and conduction system. The disruption of normal operation of the NCC produces altered cardiac phenotypes, with the Persistence Truncus Arteriosus, Double-Outlet Right Ventricle, ventricular Septal Defects and malformation of the most common valvular aortic and pulmonary devices.

Síndrome de Waardenburg tipo 1 en gemelos monocigóticos y su familia / Type 1 Waardenburg Syndrome in Monozygotic Twins and their Family

El síndrome de Waardenburg (SW) es un trastorno genético poco frecuente con una incidencia de 1 por 40000 habitantes. Es originado por mutaciones en múltiples genes como PAX3, MITF, SNAI2 y SOX10; estas alteraciones genéticas ocasionan anomalías en el desarrollo de los tejidos derivados de las células de la cresta neural y producen hallazgos fenotípicos característicos como iris de color azul claro o heterocromía del iris, poliosis, sordera neurosensorial, entre otros. El objetivo de este artículo es reportar a la literatura un caso poco frecuente de gemelos monocigóticos con hallazgos clínicos típicos de síndrome de Waardenburg tipo 1 con fenotipo diferente entre ellos, su madre y su abuela. Aquí también se establece la importancia del índice W en el diagnóstico y clasificación de este síndrome. Los hallazgos aquí reportados muestran la variabilidad de las manifestaciones fenotípicas del síndrome de Waardenburg tipo 1 dentro de una familia y especialmente en gemelos monocigóticos, lo que se ha explicado por la expresión variable de genes específicos o por la interacción de ellos con genes modificadores. Cabe resaltar que los gemelos fueron expuestos a alcohol en el primer trimestre del embarazo, por lo cual se propone que la expresión variable del SW fue influenciada por exposiciones a agentes medioambientales.

Waardenburg Syndrome is a rare genetic disorder with an incidence of 1 in 40.000 individuals. It is caused by mutations in multiple genes such as PAX3, MITF, SNAI2 and SOX10. These genetic alterations cause abnormal development of tissues derived from neural crest cells and produce phenotypic characteristic findings as light blue iris or iris heterochromia, poliosis and sensorineural hearing loss, among others. The aim of this article is to report to the literature a rare case of monozygotic twins with typical clinical findings of type 1 Waardenburg Syndrome with different phenotype between them, including their mother and grandmother. The use of W index to identify cantorum dystopia and to classify the cases according to the four types of Waardenburg syndrome is explained. The findings reported here show the variability of phenotypic manifestations of type 1 Waardenburg Syndrome within a family and particularly in monozygotic twins, which is explained by the variable expression of specific genes or the interaction of these with modifier genes. Given the fetal exposure of the twins to alcohol, it is proposed that the variable expression of Waardenburg Syndrome would be influenced by exposure to environmental agents.

Tumor neuroectodérmico primitivo periférico extraesquelético/sarcoma de Ewing metastásico en un neonato / Metastatic primitive extraskeletal peripheral neurectodermal tumor/ewing sarcoma in a neonate / Tumor neuroectodérmico primitivo periférico extra esquelético/sarcoma de ewing apresentado em neonato

El tumor neuroectodérmico primitivo periférico/sarcoma de Ewing, descrito a comienzos del siglo XX, es un tumor muy maligno poco frecuente de gran mortalidad, cuya causa es la translocación t(11;22)(q24;q12) en células derivadas de la cuarta hojilla embrionaria o células de la cresta neural que, por su posibilidad de diferenciación en linajes mesenquimales craneocefálicos, fácilmente se convierte en metastásico. Se encuentra bajo la denominación de enfer- medades raras debido a su baja frecuencia de aparición. A nivel mundial se han referenciado, menos de 20 casos con afectación periférica extraósea congénita y este es el primero en reportarse en Colombia. En el presente caso se describe la lesión tumoral extraesquelética con metástasis a pulmón y a cerebro, en un neonato de sexo femenino, fruto de un embarazo único, prematuro, sin reporte de exposición a factores de riesgo medioam- bientales, que fue remitida con la lesión tumoral al segundo día de vida, por dificultad respiratoria grave progresiva a falla respiratoria. La bebé fue atendida en la unidad neonatal de la Fundación Cardioinfantil de Bogotá.

A female premature infant with no history of exposure, who on presented a peripheral primitive neuroectodermal tumor/extraosseous Ewing sarcoma with metastases to lungs and brain which rapidly invaded the airways. The knowledge of this exotic neoplasm could support the diagnosis and management of newborns with this rare tumor associated with respiratory failure and high mortality. This is the first newborn report of pPNET/Ewing sarcoma in South America, of which fewer than twenty cases have been published. Primitive neuroectodermal tumors or Ewing Sarcoma (PNET/ES) are an aggressive, rare and lethal tumor family of small blue cells with a varied histological morphology that affect the nervous system, skeleton, soft tissues, skin, or parenchymal organs. They are prevalent in the second decade of life, more frequent in whites, male/female 1.3-1.5:1, 85% are caused by nonrandom translocation t(11;22)(q24;q12) limited to the tumor, and therefore non-heritable, with chimeric EWS/FLI1 fusion and a positive CD99 immuno- phenotype. The reporting of this rare tumor associated with neonatal respiratory failure could facilitate its diag- nosis and early treatment.

O tumor neuroectodérmico primitivo periférico extra esquelético /Sarcoma de Ewing, descrito a inicios do século XX, é um tumor raro e maligno que apre-senta alto grau de mortalidade devido à translocação t(11;22)(q24;q12) em células derivadas da quarta hojilla embrionária ou crista neural que por possibilidade de diferenciação de linagens mesenquimales cráneocefá-lico, pode virar facilmente em metastasico.Trata-se de uma doença rara, debido à baixa frequência de aparição. Mundialmente tem se referenciado apro-ximadamente 15 eventos com afetação periférica extraóssea congênita e este é o primeiro caso reportado na Colômbia. No artigo se descreve a lesão tumoral extraesquelética com metastasis no pulmão e cérebro apresentado em neonato feminino produto de gravidez única pre-térmo sem reporte de exposição a fatores de risco medioambientais. O bebe foi remitido com lesão tumoral no segundo dia de ida, por ter apresentado difi-culdade respiratória progressiva grave e insuficiência ventilatória, foi atendida na unidade neonatal da Funda-cion Cardioinfantil (FCI-IC), na cidade de Bogotá.

Right Atrial Paraganglioma: An Extremely Rare Primary Cardiac Neoplasm Mimicking Myxoma

In this report, we present a case of 35-year-old lady who had presented with atypical chest pain and exertional breathlessness for past six months. Transthoracic and transesophageal echocardiograms showed a well-circumscribed, echo-dense mass in the right atrium, attached to the interatrial septum at the level of atrioventricular junction and in the vicinity of coronary sinus ostium. She underwent successful resection of the cardiac mass. Histopathology revealed paraganglioma, which was reconfirmed by immunohistochemistry study. This represents an extremely rare presentation as primary cardiac tumors are 20-times less common than metastatic tumors and paraganglioma is one of the rarest primary cardiac tumors, accounting for < 1% of all cases.

Understanding of Human Embryo Development for Teratogen Counselling

Human embryology is the study of development from a single cell to a baby in 9 months. Implantation occurs at the end of the first week of development. The second week of development is known as the week of 2's. Gastrulation, the most characteristic event occurring in the third week, establishes three germ layers composed of ectoderm, mesoderm, and endoderm. The three germ layers and neural crest cells lead to the development of their own tissues and organs during the embryonic period, which extends from the third to the eighth week. Major congenital malformations occur in the embryonic period. The fetal period, from the third month to the day of birth, is the time for maturation of tissues and organs, and growth of the body. Because of the close relationship between embryology and congenital abnormalities, knowledge of human development is essential to assess the effects on the embryo when the mother has been exposed to teratogens. This paper briefly reviews the normal embryonic development and associated congenital malformation.

Advances in differentiation of human embryonic stem cells into corneal endothelial cells under the mimical microenvironment / 中华实验眼科杂志

The lack of donor corneal endothelium is a serious impediment to the development of corneal endothelial transplantation,whereas the bioengineered cornea provides an approach to this problem.Functional corneal endothelial cells which differentiated from human embryonic stem cells (ESCs) can,to some extent,relieve the lack of donor corneas,especially for corneal endothelia.At the moment,an optimal way of offering bioengineered-corneal endothelium is to cultivate the corneal endothelial cells in vitro.This is a process of inducing human ESCs to differentiate into neural crest stem cells (NCSCs) and then into corneal endothelial cells in a favorable medium with growth factors and extracellular matrix,which are matched microenvironment of endothelial cells in vitro.However,the inducement condition is still pending and remains for further research.This article reviewed the researching development of bioengineered-corneal endothelium from the effect of microenvironment and the induction of human ESCs.