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.

Research progress in Lamins in malignant tumors / 中南大学学报(医学版)

Changes in nuclear morphology are common in malignant tumors, but the underlying molecular mechanisms remain poorly understood. Lamins is involved in supporting nuclear structure, and the expression of Lamins is the molecular basis for nuclear morphological changes during tumor progression. In recent years, the research on the relationship between Lamins and malignant tumors has made great progress. Lamins is of great value in the diagnosis, treatment, and prognosis of various malignant tumors.

Bioinformatic analysis of the sequences of lamins from different species / 中国实验动物学报

Objective Type A lamins are encoded by LMNA and a major component of the nuclear lamina, which have been suggested to play important roles in chromatin organization, transcription, DNA replication, and cell apoptosis. The aim of this study was to analyze the bioinformation of zebrafish lamins. Methods A phylogeny analysis was figured out with protein sequences of different species by Clustal X and MEGA 4?0 software. Then we compared the lamin protein sequences of different species with that of zebrafish by BLAST tool from NCBI. A figure of synteny analysis results was done with lamin sequence information of humans, murine and zebrafish cited from UCSC, Vega and Ensemble. Results The a?nalysis results showed that lmna, lmnb1, and lmnb2 genes of zebrafish are highly conservative and they may be homology of human LMNA, LMNB1 and LMNB2 genes. Conclusions Zebrafish lamins and human lamins have homologous sequence similarity, indicating that these two genes are orthologous genes.

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.

Lamin A/C mutations associated with familial and sporadic cases of dilated cardiomyopathy in Koreans

Dilated cardiomyopathy (DCM) is characterized by cardiac dilation and systolic dysfunction. So far sixteen genes have been shown to cause autosomal dominant familial dilated cardiomyopathy (FDC). We identified a large Korean family from the Jeju island showing a clear Mendelian inheritance of FDC. A genomewide linkage scan at 9 cM marker density identified a peak multipoint LOD score of 2.82 at D1S195. Haplotyping of the region with 15 additional markers defined a candidate interval that included a known candidate gene encoding the lamin A/C (LMNA). Sequencing of the LMNA exons revealed one missense mutation at C568T (Arg190Trp) in the alpha-helical rod domain of the LMNA gene cosegregating with FDC with conduction-system disease. The same mutation was found in patients of another Korean family with FDC without conduction-system disease. Upon screening 14 sporadic DCM cases, we found three LMNA mutations including a case having a previously described (Glu161Lys) mutation and two having novel mutations (Glu53Val and Glu186Lys). Our results suggest that variable genotypes of laminopathy are implicated in not only familial but also considerable proportion of sporadic DCM.

Cardiac Dysrhythmias, Cardiomyopathy and Muscular Dystrophy in Patients with Emery-Dreifuss Muscular Dystrophy and Limb-Girdle Muscular Dystrophy Type 1B

Emery-Dreifuss muscular dystrophy (EDMD) and limb-girdle muscular dystrophy type 1B (LGMD1B) are characterized by cardiac dysrhythmias, late-onset cardiomyopathy, slowly progressive skeletal myopathy and contractures of the neck, elbows and ankles. The causative mutation is either in the emerin gene (X-linked recessive EDMD) or lamin A/C gene (autosomal dominant EDMD2 or LGMD1B). We report three cases of EDMD, EDMD2 and LGMD1B. A 14-yr-old boy showed limitation of cervical flexion and contractures of both elbows and ankles. Sinus arrest with junctional escape beats was noted. He was diagnosed as X-linked recessive EDMD (MIM 310300). A 28-yr-old female showed severe wasting and weakness of humeroperoneal muscles. Marked limitation of cervical flexion and contractures of both elbows and ankles were noted. Varying degrees of AV block were noted. She was diagnosed as autosomal dominant EDMD2 (MIM 181350). A 41-yr-old female had contractures of both ankles and limb-girdle type muscular dystrophy. ECG revealed atrial tachycardia with high grade AV block. She was diagnosed as autosomal dominant LGMD1B (MIM 159001). Cardiac dysrhythmias in EDMD and LGMD1B include AV block, bradycardia, atrial tachycardia, atrial fibrillation, and atrial standstill, causing sudden death necessitating pacemaker implantation. Cardiologists should know about these unusual genetic diseases with conduction defects, especially in young adults.

Laminopathies —one gene, multiple diseases / 北京大学学报(医学版)

Laminopathies are genetic diseases that encompass a wide spectrum of phenotypes with diverse tissue pathologies and result mainly from mutations in the LMNA gene encoding nuclear lamin A/C. To date, at least 9 different human diseases, which superficially seem to share little with one another, result from LMNA mutations. The position of the mutation within LMNA appears to be associated with the phenotypes. This review gives an overview of genotype-phenotype relationship and describes recent advances in animal models and pathogenic mechanisms.

Function of lamins in the mechanism of cell aging / 中国病理生理杂志

Cell aging,the fundamental unit of biological decay,is responsible for senile disease. With the development of research,the mechanism of cell aging has been investigated in molecular level. Two hypotheses have emerged to explain the reason that lamins contribute to cell aging,one is the mechanical stress hypothesis,the other is the gene expression hypothesis. The latter proposes that mutations in A-type lamins lead to abnormal tissue-specific gene regulation. In recent years,the molecular mechanisms of lamins causing cell aging primarily include gene mutation,Zmpste24 mutation,CAAX mutation and other mutations. These mutations in the gene that encode nuclear lamins cause nuclear lamina damage directly and result in cell aging,which have been associated with several degenerative disorders.