Embrioteca humana: orientaciones metodológicas para su uso en el proceso enseñanza aprendizaje, en formato electrónico / Human embryo library: methodological guidelines for its use in the teaching-learning process, in electronic format

RESUMEN Fundamento: las series histoembriológicas coleccionadas en las embriotecas devienen en importante medio visual en el proceso de enseñanza aprendizaje de la Embriología por el alto potencial didáctico de sus imágenes. Su uso docente requiere orientaciones metodológicas para adecuarse de manera racional y eficiente a los diferentes contextos, niveles y formas organizativas. Objetivo: elaborar orientaciones metodológicas para el uso docente de una embrioteca humana. Métodos: se recurrió a la sistematización de experiencias teóricas y prácticas. Según etapas se definieron muestras, contextos, instrumentos, técnicas, categorías, subcategorías, regularidades, aportes y lecciones aprendidas. Se emplearon métodos y técnicas cualitativas: entrevista semiestructurada, observación, grupos focales, registro de sistematización, técnica de triangulación de fuentes documentales y metodológicas, valoración por especialistas; además del método matemático-estadísticos. Resultados: se confirmó la pertinencia de la embrioteca humana como medio de enseñanza, para lo cual se requieren orientaciones metodológicas; estas fueron elaboradas con enfoque general y específico para contenidos de Embriología en el plan de estudio de la carrera y programa de la especialidad. Se acompañan de 114 imágenes originales a través de las cuales los autores sugieren cómo trabajar didácticamente con este medio. Conclusiones: la sistematización teórica y práctica de la experiencia acumulada en el uso docente de la embrioteca humana permitió elaborar un manual electrónico donde se orienta el trabajo metodológico en los diferentes contextos, niveles y formas organizativas docentes de la Embriología como materia de estudio. Según los especialistas cumple los criterios de rigor: credibilidad, transferencia, dependencia y confirmabilidad.

ABSTRACT Background: the histo-embryological series collected in the embryo libraries become an important visual aid in the teaching-learning process of Embryology due to the high didactic potential of their images. Its teaching use requires methodological orientations to adapt rationally and efficiently to the different contexts, levels and organizational forms. Objective: to develop methodological guidelines for the educational use of a human embryo library. Methods: the systematization of theoretical and practical experiences was used. Samples, contexts, instruments, techniques, categories, subcategories, regularities, contributions and lessons learned were defined according to stages. Qualitative methods and techniques were used: semi-structured interview, observation, focal groups, systematization record, and comparison of sources technique of documentary and methodological sources, evaluation by specialists; in addition to the mathematical-statistical method. Results: the relevance of the human embryo library as a teaching aid was confirmed, for which methodological guidelines are required; these were elaborated with a general and specific focus for Embryology contents in the study plan of the degree and program of the specialty. They are accompanied by 114 original images through which the authors suggest how to work didactically with this aid. Conclusions: the theoretical and practical systematization of the accumulated experience in the educational use of the human embryo library allowed the elaboration of an electronic manual where the methodological work is oriented in the different contexts, levels and educational organizational forms of Embryology as a subject of study. According to specialists, it meets the rigorous criteria: credibility, transfer, dependency and confirmability.

Heterochromatin as an Important Driver of Genome Organization.

Heterochromatin is a constituent of eukaryotic genomes with functions spanning from gene expression silencing to constraining DNA replication and repair. Inside the nucleus, heterochromatin segregates spatially from euchromatin and is localized preferentially toward the nuclear periphery and surrounding the nucleolus. Despite being an abundant nuclear compartment, little is known about how heterochromatin regulates and participates in the mechanisms driving genome organization. Here, we review pioneer and recent evidence that explores the functional role of heterochromatin in the formation of distinct chromatin compartments and how failure of the molecular mechanisms forming heterochromatin leads to disarray of genome conformation and disease.

Lipodistrofia parcial familiar do tipo Dunnigan: atenção ao diagnóstico precoce / Dunnigan-type familial partial lipodystrophy: attention to precocious diagnosis

A lipodistrofia parcial familiar tipo Dunnigan é uma doença autossômica dominante rara. Em sua forma clássica, é resultante de uma mutação missense heterozigótica no gene LMNA, que codifica a proteína nuclear denominada lâmina tipo A/C. Caracteriza-se pelo desaparecimento progressivo do tecido adiposo subcutâneo nos membros, região glútea, abdome e tronco, que se inicia na puberdade, acompanhado de acúmulo de gordura em outras áreas, como a face, queixo, grandes lábios e região intra-abdominal, conferindo o aspecto de hipertrofia muscular e simulando o fenótipo de síndrome de Cushing. Mulheres afetadas são particularmente predispostas à resistência à insulina e suas complicações, incluindo sinais da síndrome dos ovários policísticos. Com o objetivo de alertar para o diagnóstico precoce, que possibilita a adoção de medidas que minimizam os graves distúrbios metabólicos vinculados à desordem, relatamos o caso de uma paciente em que a investigação foi realizada somente ao final da quinta década de vida. A aparente hipertrofia muscular e o acentuado depósito de gordura nos grandes lábios possibilitam aos médicos ginecologistas a suspeita diagnóstica.

Dunnigan-type familial partial lipodystrophy (FPLD) is an autosomal dominant disease that results from heterozygous missense mutations in LMNA, the gene that encodes nuclear lamin A/C. FPLD is characterized by a progressive disappearance of subcutaneous adipose tissue in the limbs, gluteal region, abdomen and trunk, beginning at the time of or after puberty, and excessive amount of fat in the face, chin, labia majora, and intra-abdominal region, leading to a Cushingoid appearance and increased muscularity phenotype. Affected women are particularly predisposed to insulin resistance and its complications, including features of polycystic ovary syndrome. To emphasize the importance of an early FPLD diagnosis, which is necessary to prevent serious metabolic disturbances, we report a woman diagnosed at about 50 years of age. Increased muscularity and significant labia majora fat deposit made the diagnosis possible by gynecologists.