RESUMEN
Multisystem Inflammatory Syndrome in Children (MIS-C) is a rare, potentially fatal complication of SARS-CoV-2 infection. Genetic defects in inflammation-related pathways have been linked to MIS-C, but additional research is needed, especially in diverse ethnic groups. The present study aimed to identify genetic variants underlying MIS-C in Brazilian patients. Whole-exome sequencing was performed, focusing on genes involved in the host immune response to SARS-CoV-2. Functional assays assessed the impact of selected variants on NF-κB signaling. Nine rare, potentially deleterious variants were found in eight of 21 patients, located in IL17RC, IFNA10, or NLRP12 genes. Unlike the wild-type NLRP12 protein, which inhibits NF-κB activation in HEK 293T cells, the mutant NLRP12 proteins have significantly reduced inhibitory properties. In conclusion, our results indicate that rare autosomal variants in immune-related genes may underlie MIS-C, highlighting the potential role of NLRP12 in its predisposition. These findings provide new insights for the appropriate management of MIS-C.
RESUMEN
The genome of Corynebacterium pseudotuberculosis MB20 bv. equi was sequenced using the Ion Personal Genome Machine (PGM) platform, and showed a size of 2,363,089 bp, with 2,365 coding sequences and a GC content of 52.1%. These results will serve as a basis for further studies on the pathogenicity of C. pseudotuberculosis bv. equi.
RESUMEN
In this work, perturbed angular correlation (PAC) spectroscopy is used to study differences in the nuclear quadrupole interactions of Cd probes in DNA molecules of mice infected with the Y-strain of Trypanosoma cruzi. The possibility of investigating the local genetic alterations in DNA, which occur along generations of mice infected with T. cruzi, using hyperfine interactions obtained from PAC measurements and density functional theory (DFT) calculations in DNA bases is discussed. A comparison of DFT calculations with PAC measurements could determine the type of Cd coordination in the studied molecules. To the best of our knowledge, this is the first attempt to use DFT calculations and PAC measurements to investigate the local environment of Cd ions bound to DNA bases in mice infected with Chagas disease. The obtained results also allowed the detection of local changes occurring in the DNA molecules of different generations of mice infected with T. cruzi, opening the possibility of using this technique as a complementary tool in the characterization of complicated biological systems.
Asunto(s)
Cadmio/química , Enfermedad de Chagas/genética , ADN/química , Trypanosoma cruzi , Adenina/química , Animales , Cationes Bivalentes , Complejos de Coordinación/química , Citosina/química , Guanina/química , Ratones , Especificidad de la Especie , Timina/químicaRESUMEN
Neste estudo procuramos determinar a satisfação e a percepção de mudanças específicas resultantes da participação num programa de treino metacognitivo e da cognição social (TMSC) para pessoas com Esquizofrenia. Participaram 21 participantes com diagnóstico de Esquizofrenia responderam a um inquérito por questionário de administração direta com questões abertas, realizado a meio e no final do TMCS. A partir das categorias (1) Satisfação com o programa, (2) Reestruturação sócio-cognitiva e (3) Mudanças na relação eu-outro, verificamos que o programa é relevante, tem potencial para introduzir mudanças na relação com os outros e parece otimizar a cognição social. Os aspectos negativos apontados estão relacionados com a duração do programa e das sessões, e com a linguagem utilizada...
This study aimed to understand the satisfaction and the perception of specific changes triggered by the participation in a metacognitive and social cognition training program (MSCT) for people with Schizophrenia. Participed 21 participants with a diagnosis of Schizophrenia answered a questionnaire of direct-response with open ended questions applied in the middle-term and at the end of the MSCT. Based on the categories (1) satisfaction with the program, (2) social cognitive restructuring and (3) Changes in the self-other relationship, we found that the program was considered to be relevant, had the potential to improve relationships with others and facilitated the enhancement of social cognition. The most important negative aspects mentioned were the duration of the program and sessions, and the specific language used...
En este estudio hemos tratado de determinar la satisfacción y la percepción de los cambios específicos que resulten de la participación en un programa de entrenamiento metacognitivo y de la cognición social (TMSC) para las personas con esquizofrenia. 21 participantes con diagnóstico de esquizofrenia respondieron a un cuestionario de administración directa con preguntas abiertas, realizadas en el medio y al final de TMCS. A partir de las categorías (1) satisfacción con el programa, (2) reestructuración socio-cognitiva, y (3) cambios en la relación yo-otro, constatamos que el programa es relevante, tiene la posibilidad de introducir cambios en la relación con los demás y parece optimizar la cognición social. Los aspectos negativos se refieren a la duración del programa y de las sesiones, y la terminología utilizada...
Asunto(s)
Humanos , Adulto , Persona de Mediana Edad , Cognición , Esquizofrenia/prevención & control , Rehabilitación/psicologíaRESUMEN
Neste estudo procuramos determinar a satisfação e a percepção de mudanças específicas resultantes da participação num programa de treino metacognitivo e da cognição social (TMSC) para pessoas com Esquizofrenia. Participaram 21 participantes com diagnóstico de Esquizofrenia responderam a um inquérito por questionário de administração direta com questões abertas, realizado a meio e no final do TMCS. A partir das categorias (1) Satisfação com o programa, (2) Reestruturação sócio-cognitiva e (3) Mudanças na relação eu-outro, verificamos que o programa é relevante, tem potencial para introduzir mudanças na relação com os outros e parece otimizar a cognição social. Os aspectos negativos apontados estão relacionados com a duração do programa e das sessões, e com a linguagem utilizada.(AU)
This study aimed to understand the satisfaction and the perception of specific changes triggered by the participation in a metacognitive and social cognition training program (MSCT) for people with Schizophrenia. Participed 21 participants with a diagnosis of Schizophrenia answered a questionnaire of direct-response with open ended questions applied in the middle-term and at the end of the MSCT. Based on the categories (1) satisfaction with the program, (2) social cognitive restructuring and (3) Changes in the self-other relationship, we found that the program was considered to be relevant, had the potential to improve relationships with others and facilitated the enhancement of social cognition. The most important negative aspects mentioned were the duration of the program and sessions, and the specific language used.(AU)
En este estudio hemos tratado de determinar la satisfacción y la percepción de los cambios específicos que resulten de la participación en un programa de entrenamiento metacognitivo y de la cognición social (TMSC) para las personas con esquizofrenia. 21 participantes con diagnóstico de esquizofrenia respondieron a un cuestionario de administración directa con preguntas abiertas, realizadas en el medio y al final de TMCS. A partir de las categorías (1) satisfacción con el programa, (2) reestructuración socio-cognitiva, y (3) cambios en la relación yo-otro, constatamos que el programa es relevante, tiene la posibilidad de introducir cambios en la relación con los demás y parece optimizar la cognición social. Los aspectos negativos se refieren a la duración del programa y de las sesiones, y la terminología utilizada.(AU)