ABSTRACT
El nacimiento de gemelos siameses es un fenómeno extraño en las salas de parto de todo el mundo, son producto de un mismo óvulo que por alguna extraña razón no llegó a dividirse; se presenta 1/50.000 o 1/120.000 nacimientos; se estima que el 50% nace muerto y el 35% muere el primer día de vida; y el 70% son de génerofemenino. Un feto bicéfalo es un producto desarrollado con dos cabezas que se unen entre sí por medio de sus porciones temporo-parietales mediales, estando conectados vascularmente y compartiendo o no órganos entre sí; son de tipo monocigóticos y producidos por la separación anormal o incompleta de la porción axial del disco germinativo bilaminar en etapas avanzadas del desarrollo embrionario. En el presente trabajo se expone un caso de siameses bicéfalo de sexo femenino, cuyo espécimen hacía parte de las colecciones de embriología del Laboratorio de Morfología de la Universidad Tecnológica de Pereira, el cual por registro de Historia Clínica y Consentimiento Informado de la madre, quien lo entregó a la Universidad, fue sometido a descripción anatomopatológica con el fin de exponer aspectos relacionados con las posibles causas que los originaron, así como el diagnóstico prenatal de estos defectos congénitos y su diagnóstico Imagineológico postmortem.
The birth of conjoined twins is a strange phenomenon in the delivery rooms around the world, are the product of a single egg that for some reason did not divide; is presenta1 / 50,000 or 1 / 120,000 births; is estimated that 50% stillborn and 35% die on the first day of life; and 70% are female. A two-headed fetus is a product developed with two heads that are joined together through their temporoparietal medial portions being connected vascularized organs and sharing with each other or not; are monozygotic type and produced by abnormal or incomplete separation of the axial portion of the bilaminar germ disc in advanced stages of embryonic development. In this paper a case of two-headed Siamese female, whose specimen was part of the collections of Morphology Embryology Laboratory of the Technological University of Pereira, who for record medical history and informed consent of the mother who is exposed delivered to the University underwent pathological description to explain aspects of the possible causes of these accidents and the prenatal diagnosis of these congenital defects and postmortem imaging diagnosis.
O nascimento de gêmeos siameses é um fenômeno estranho nas salas de parto de todo o mundo. São produto de um mesmo óvulo, que por alguma estranha razão não chegou a dividir-se; se apresenta em 1/50.000 ou 1/120.000 nascimentos. Estima-se que 50% nascem mortos e 35% morre ao primeiro dia de vida; e 70% são do gênero feminino.Um feto bicéfalo é um produto desenvolvido com duas cabeças que se unem entre si por meio de suas porções temporão-parietais mediais, estando conectados vascular-mente e compartilham ou não órgãos entre si; são de tipo monozigóticos e produzi-dos pela separação anormal ou incompleta da porção axial do disco germinativo bi laminar em etapas avançadas do desenvolvimento embrionário. Neste trabalho se expõe o caso de siamesas bicéfalas do sexo feminino, cujo espéci-men fazem parte das coleções de embriologia do Laboratório de Morfologia da Uni-versidade Tecnológica de Pereira, que por registro de Historia Clínica e Consenti-mento Informado da mãe, que o entregou à Universidade, foi submetido a descrição anatomopatológica com o fim de expor aspectos relacionados às possíveis causas que os originaram, assim como o diagnóstico pré-natal destes defeitos congênitos e seu diagnóstico Imagiológico post-mortem.
Subject(s)
Humans , Female , Pregnancy , Blastodisc/embryology , Prenatal Diagnosis/methods , Twins, Conjoined/embryology , Ultrasonography, Prenatal/standardsSubject(s)
Cell Polarity/genetics , Drosophila Proteins/genetics , Drosophila melanogaster/embryology , Epithelium/embryology , JNK Mitogen-Activated Protein Kinases/physiology , Tumor Suppressor Proteins/genetics , Animals , Animals, Genetically Modified , Blastodisc/embryology , Blastodisc/metabolism , Blastodisc/ultrastructure , Body Patterning/genetics , Body Patterning/physiology , Drosophila Proteins/physiology , Drosophila melanogaster/genetics , Drosophila melanogaster/metabolism , Embryo, Nonmammalian , Enzyme Activation/physiology , Epithelium/ultrastructure , Genetic Linkage/physiology , JNK Mitogen-Activated Protein Kinases/metabolism , Models, Biological , Mutation/physiology , Signal Transduction/genetics , Signal Transduction/physiology , Tumor Suppressor Proteins/physiologyABSTRACT
Despite the regular decrease in fertility observed in hens, especially in "meat" lines, little is known about genes affecting fertility. We used the Affymetrix microarray to search for oocyte genes whose expression would vary in relation to fertility rate in both "laying" and "meat" line hens. We focused on oocyte genes because several of them have been found to be involved in fertility in other species. Based on microarray analysis, 54 and 84 genes were differentially expressed between germinal disc regions (GDR) of F1 maturation stage oocytes from hens exhibiting either high (100%) or low (from 22% to 80%) fertility rate from laying and meat lines respectively. Most of these differentially expressed genes were distributed between "laying" and "meat" lines indicating that mechanisms involved in the decrease in fertility rates in these two cases were independent. Real time RT-PCR performed on the same samples which were used for microarray confirmed in several cases differences in gene expression levels detected by microarray. Moreover the correlations between gene expression levels and fertility rates were evaluated for the 10 most interesting genes at different stages of follicular maturation and early embryo development on individual GDR samples from hens exhibiting different fertility rates. In total, we identified five genes whose expression levels correlated with fertility rate in accordance with findings of microarray analysis and real time RT-PCR: VWC2, CR407412, TAPA, FGL2, and TRAP6. The biological significance of these genes sheds light on potential mechanisms influencing fertility and could provide candidates for fertility markers in the hen.
