Differential Expression of Proteins in an Atypical Presentation of Autoimmune Lymphoproliferative Syndrome

Autoimmune lymphoproliferative syndrome (ALPS) is a rare disease defined as a defect in the lymphocyte apoptotic pathway. Currently, the diagnosis of ALPS is based on clinical aspects, defective lymphocyte apoptosis and mutations in Fas, FasL and Casp 10 genes. Despite this, ALPS has been misdiagnosed. The aim of this work was to go one step further in the knowledge of the disease, through a molecular and proteomic analysis of peripheral blood mononuclear cells (PBMCs) from two children, a 13-year-old girl and a 6-year-old boy, called patient 1 and patient 2, respectively, with clinical data supporting the diagnosis of ALPS. Fas, FasL and Casp10 genes from both patients were sequenced, and a sample of the total proteins from patient 1 was analyzed by label-free proteomics. Pathway analysis of deregulated proteins from PBMCs was performed on the STRING and PANTHER bioinformatics databases. A mutation resulting in an in-frame premature stop codon and protein truncation was detected in the Fas gene from patient 2. From patient 1, the proteomic analysis showed differences in the level of expression of proteins involved in, among other processes, cell cycle, regulation of cell cycle arrest and immune response. Noticeably, the most down-regulated protein is an important regulator of the cell cycle process. This could be an explanation of the disease in patient 1

Hacia la construcción de una agenda de investigación sobre la paz y la violencia en México y Colombia

Un mundo predominantemente violento requiere con urgencia estudios de paz que se alejen del propósito esencialista de una paz perfecta, y que más bien busquen comprender la violencia y la paz como construcciones culturales, históricas, contingentes y mutables, que coexisten y que los mismos actores generan. Este libro recoge avances de los estudios para la paz en Colombia y México surgidos de debates en torno a la paz, los conflictos y el desarrollo en dos países cuyas sociedades han sido consideradas como desestructuradas debido a las violencias que experimentan. Los autores visualizan el conflicto como un insumo necesario para hacer sociedad y, en consecuencia, evidencian la importancia de todas las prácticas de paz que se proponen e implementan, independientemente de su magnitud y alcance. Así pues, esta obra inicia el camino para la construcción de una agenda de investigación para la paz en la cual se incorporan los múltiples discursos y prácticas que desde América Latina permanecen y reflejan el proceso de convivencia entre violencia y paz.https://ebooks.udem.edu.co/product/hacia-la-construccin-de-una-agenda-investigacin-sobre-paz-y-violencia-en-mxico-colombi