Uso de la inmunohistoquímica como herramienta epidemiológica para el diagnóstico de rabia bovina a partir de casos no conclusivos

Objetivo. Identificar el virus de la rabia en casos de encefalitis bovina a partir de muestras archivadas en el laboratorio sin diagnóstico conclusivo. Materiales y métodos. Doce muestras de cerebro bovino sospechosas de rabia, fueron procesadas por la técnica de inmunoperoxidasa indirecta, usando anticuerpos policlonales contra el agente viral. Resultados. Se demostró la presencia de antígenos virales en tres casos en forma de agregados pequeños en el citoplasma de las neuronas, con un patrón de forma redonda u oval y un número variable de corpúsculos de inclusión viral. Se discute sobre la importancia de los resultados en Colombia, la utilidad de la técnica en las difíciles condiciones de envío de muestras al laboratorio, además la posible relación de los casos negativos con herpesvirus bovino 5. Conclusiones. La utilización de la técnica de inmunohistoquímica para demostrar antígenos del virus rábico en encéfalos bovinos fijados en formol, puede ayudar en el perfeccionamiento del mapa epidemiológico de la enfermedad de la rabia en Colombia y puede disminuir el alto subdiagnóstico de otras enfermedades que afectan el sistema nervioso de los bovinos

Elegir enseñar: propuesta del modelo antropológico de la motivación de Pérez López aplicada al ámbito de la educación

La importancia de tener buenos profesores para garantizar la calidad del sistema educativo depende, en parte, de la motivación de quién opta por una carrera docente. Tras una revisión de los modelos de motivación y de estudios sobre motivación de futuros profesores realizados en el ámbito nacional e internacional, constatamos la necesidad de clarificar los conceptos y establecer un marco conceptual completo. El modelo propuesto asume y clarifica los motivos de elección de estudios de Educación al mismo tiempo que da un marco conceptual antropológico acorde a la identidad humana, aportando una dimensión ética a la teoría de la motivación

CIBERER : Spanish national network for research on rare diseases: A highly productive collaborative initiative

Altres ajuts: Instituto de Salud Carlos III (ISCIII); Ministerio de Ciencia e Innovación.CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the National Health System. CIBERER, the thematic area of CIBER focused on rare diseases (RDs) currently consists of 75 research groups belonging to universities, research centers, and hospitals of the entire country. CIBERER's mission is to be a center prioritizing and favoring collaboration and cooperation between biomedical and clinical research groups, with special emphasis on the aspects of genetic, molecular, biochemical, and cellular research of RDs. This research is the basis for providing new tools for the diagnosis and therapy of low-prevalence diseases, in line with the International Rare Diseases Research Consortium (IRDiRC) objectives, thus favoring translational research between the scientific environment of the laboratory and the clinical setting of health centers. In this article, we intend to review CIBERER's 15-year journey and summarize the main results obtained in terms of internationalization, scientific production, contributions toward the discovery of new therapies and novel genes associated to diseases, cooperation with patients' associations and many other topics related to RD research

Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, we found 133 cases (1.42%) with detectable clonal mosaicism for chromosome alterations (mCA) and 226 males (5.08%) with acquired loss of chromosome Y (LOY). Individuals with clonal mosaic events (mCA and/or LOY) showed a 54% increase in the risk of COVID-19 lethality. LOY is associated with transcriptomic biomarkers of immune dysfunction, pro-coagulation activity and cardiovascular risk. Interferon-induced genes involved in the initial immune response to SARS-CoV-2 are also down-regulated in LOY. Thus, mCA and LOY underlie at least part of the sex-biased severity and mortality of COVID-19 in aging patients. Given its potential therapeutic and prognostic relevance, evaluation of clonal mosaicism should be implemented as biomarker of COVID-19 severity in elderly people. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, individuals with clonal mosaic events (clonal mosaicism for chromosome alterations and/or loss of chromosome Y) showed an increased risk of COVID-19 lethality

Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome

To investigate large structural clonal mosaicism of chromosome X, we analysed the SNP microarray intensity data of 38,303 women from cancer genome-wide association studies (20,878 cases and 17,425 controls) and detected 124 mosaic X events >2 Mb in 97 (0.25%) women. Here we show rates for X-chromosome mosaicism are four times higher than mean autosomal rates; X mosaic events more often include the entire chromosome and participants with X events more likely harbour autosomal mosaic events. X mosaicism frequency increases with age (0.11% in 50-year olds; 0.45% in 75-year olds), as reported for Y and autosomes. Methylation array analyses of 33 women with X mosaicism indicate events preferentially involve the inactive X chromosome. Our results provide further evidence that the sex chromosomes undergo mosaic events more frequently than autosomes, which could have implications for understanding the underlying mechanisms of mosaic events and their possible contribution to risk for chronic diseases

Detectable clonal mosaicism and its relationship to aging and cancer

In an analysis of 31,717 cancer cases and 26,136 cancer-free controls from 13 genome-wide association studies, we observed large chromosomal abnormalities in a subset of clones in DNA obtained from blood or buccal samples. We observed mosaic abnormalities, either aneuploidy or copy-neutral loss of heterozygosity, of >2 Mb in size in autosomes of 517 individuals (0.89%), with abnormal cell proportions of between 7% and 95%. In cancer-free individuals, frequency increased with age, from 0.23% under 50 years to 1.91% between 75 and 79 years (P = 4.8 × 10(-8)). Mosaic abnormalities were more frequent in individuals with solid tumors (0.97% versus 0.74% in cancer-free individuals; odds ratio (OR) = 1.25; P = 0.016), with stronger association with cases who had DNA collected before diagnosis or treatment (OR = 1.45; P = 0.0005). Detectable mosaicism was also more common in individuals for whom DNA was collected at least 1 year before diagnosis with leukemia compared to cancer-free individuals (OR = 35.4; P = 3.8 × 10(-11)). These findings underscore the time-dependent nature of somatic events in the etiology of cancer and potentially other late-onset diseases

Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome

To investigate large structural clonal mosaicism of chromosome X, we analysed the SNP microarray intensity data of 38,303 women from cancer genome-wide association studies (20,878 cases and 17,425 controls) and detected 124 mosaic X events42Mb in 97 (0.25%) women. Here we show rates for X-chromosome mosaicism are four times higher than mean autosomal rates; X mosaic events more often include the entire chromosome and participants with X events more likely harbour autosomal mosaic events. X mosaicism frequency increases with age (0.11% in 50-year olds; 0.45% in 75-year olds), as reported for Y and autosomes. Methylation array analyses of 33 women with X mosaicism indicate events preferentially involve the inactive X chromosome. Our results provide further evidence that the sex chromosomes undergo mosaic events more frequently than autosomes, which could have implications for understanding the underlying mechanisms of mosaic events and their possible contribution to risk for chronic diseases

Elegir enseñar: propuesta del modelo antropológico de la motivación de Pérez López aplicada al ámbito de la educación

La importancia de tener buenos profesores para garantizar la calidad del sistema educativo depende, en parte, de la motivación de quién opta por una carrera docente. Tras una revisión de los modelos de motivación y de estudios sobre motivación de futuros profesores realizados en el ámbito nacional e internacional, constatamos la necesidad de clarificar los conceptos y establecer un marco conceptual completo. El modelo propuesto asume y clarifica los motivos de elección de estudios de Educación al mismo tiempo que da un marco conceptual antropológico acorde a la identidad humana, aportando una dimensión ética a la teoría de la motivación

Uso de la inmunohistoquímica como herramienta epidemiológica para el diagnóstico de rabia bovina a partir de casos no conclusivos

Objective. Identify the rabies virus in cases of nervous disease archived in the laboratory with diagnosis of nonspecific encephalitis. Materials and methods. Twelve samples of bovine brain suspected of rabies, were processed by indirect immunoperoxidase technique using polyclonal antibodies against the viral agent. Results. Was demonstrated the presence of viral antigens in three cases in the form of small aggregates in the cytoplasm of neurons, with a pattern of round or oval and a variable number of viral inclusion bodies. We discussed the importance of the results in Colombia, the usefulness of the technique in the difficult conditions for sending samples to the laboratory, plus the possible relationship of the negative cases with bovine herpesvirus 5. Conclusions. The use of immunohistochemical technique to demonstrate rabies virus antigens in formalin fixed bovines tissues can help in the construction of an epidemiological map of rabies disease in Colombia and may reduce the high under-diagnosis of diseases of the nervous system of cattle, reported in some regions.Objetivo. Identificar el virus de la rabia en casos de encefalitis bovina a partir de muestras archivadas en el laboratorio sin diagnóstico conclusivo. Materiales y métodos. Doce muestras de cerebro bovino sospechosas de rabia, fueron procesadas por la técnica de inmunoperoxidasa indirecta, usando anticuerpos policlonales contra el agente viral. Resultados. Se demostró la presencia de antígenos virales en tres casos en forma de agregados pequeños en el citoplasma de las neuronas, con un patrón de forma redonda u oval y un número variable de corpúsculos de inclusión viral. Se discute sobre la importancia de los resultados en Colombia, la utilidad de la técnica en las difíciles condiciones de envío de muestras al laboratorio, además la posible relación de los casos negativos con herpesvirus bovino 5. Conclusiones. La utilización de la técnica de inmunohistoquímica para demostrar antígenos del virus rábico en encéfalos bovinos fijados en formol, puede ayudar en el perfeccionamiento del mapa epidemiológico de la enfermedad de la rabia en Colombia y puede disminuir el alto subdiagnóstico de otras enfermedades que afectan el sistema nervioso de los bovinos