Genomic Characterization by Whole-Exome Sequencing of Hypermobility Spectrum Disorder

No genetic basis is currently established that differentiates hypermobility spectrum disorders (HSD) from hypermobile Ehlers–Danlos syndrome (hEDS). Diagnosis is entirely based on clinical parameters with high overlap, leading to frequent misdiagnosis of these two phenotypes. This study presents a landscape of DNA mutations through whole-exome sequencing of patients clinically diagnosed with generalized HSD. In this study, three genes (MUC3A, RHBG, and ZNF717) were mutated in all five patients evaluated. The functional enrichment analysis on all 1162 mutated genes identified the extracellular matrix (ECM) structural constituent as the primary overrepresented molecular function. Ingenuity pathway analysis identified relevant bio-functions, such as the organization of ECM and hereditary connective tissue disorders. A comparison with the matrisome revealed 55 genes and highlighted MUC16 and FREM2. We also contrasted the list of mutated genes with those from a transcriptomic analysis on data from Gene Expression Omnibus, with only 0.5% of the genes at the intersection of both approaches supporting the hypothesis of two different diseases that inevitably share a common genetic background but are not the same. Potential biomarkers for HSD include the five genes presented. We conclude the study by describing five potential biomarkers and by highlighting the importance of genetic/genomic approaches that, combined with clinical data, may result in an accurate diagnosis and better treatment

Los chiles que le dan sabor al mundo

El chile es el condimento de la vida en diversas culturas del mundo. México es centro de origen y diversificación de la especie domesticada Capsicum annuum L, por lo que el chile se convirtió en elemento identitario y patrimonio biocultural de la nación. A pesar de la importancia de esta planta, desde la academia, se tienen pocos estudios integradores que analicen las complejas relaciones entre los chiles y los diferentes factores bióticos, abióticos y socioculturales que hacen posible su permanencia en el tiempo y el espacio. Este libro está conformado por 21 contribuciones de diversas mentes creativas como cocineras tradicionales, chefs, así como investigadoras e investigadores de las ciencias naturales y sociales que describen y analizan al chile mexicano con diferentes aproximaciones metodológicas y narrativas. Las evidencias presentadas desde diferentes disciplinas resaltan el uso continuo del chile como un condimento, alimento y elemento identitario en esta región del mundo. Queremos que el público lector disfrute de nuestro picante y -esperemos- sabroso compendio

Mexico ants: incidence and abundance along the Nearctic–Neotropical interface

International audienceto explore different aspects of the population and community research of ants at different spatial scales, and to aid in the establishment of conservation policies and actions. There are no copyright restrictions. Please cite this data paper when using its data for publications or teaching events

Mexico's Ants: Who are They and Where do They Live?

International audienc

Charged-particle multiplicity fluctuations in Pb–Pb collisions at √sNN = 2.76 TeV

Measurements of event-by-event fluctuations of charged-particle multiplicities in Pb–Pb collisions at sNN−−−√ = 2.76 TeV using the ALICE detector at the CERN Large Hadron Collider (LHC) are presented in the pseudorapidity range |η|<0.8 and transverse momentum 0.2<pT<2.0 GeV/c. The amplitude of the fluctuations is expressed in terms of the variance normalized by the mean of the multiplicity distribution. The η and pT dependences of the fluctuations and their evolution with respect to collision centrality are investigated. The multiplicity fluctuations tend to decrease from peripheral to central collisions. The results are compared to those obtained from HIJING and AMPT Monte Carlo event generators as well as to experimental data at lower collision energies. Additionally, the measured multiplicity fluctuations are discussed in the context of the isothermal compressibility of the high-density strongly-interacting system formed in central Pb–Pb collisions