Babies under 1 year with atypical development. Perspectives for preventive individuation and treatment

A baby's first year of life is a time of immense development and cerebral plasticity. Following today's research and clinical observation, the period of the first year of life provides a new challenge inasmuch it is presently clear that it is possible to identify developmental anomalies in this window of time. Effecting early screening procedures could prove very useful, especially where we find genetic vulnerabilities in brothers and sisters of autistic subjects. Interventions of this kind, already practiced by some Public Health systems, can mean taking early action and primary protective measures with significant impacts not only on the subjects (babies and family members) concerned, but also on the public purse. It is, therefore, essential to provide for specific professionalized procedures for psychologists, pediatricians and neuropsychologists to be introduced through personnel highly specialized in interventions during the first year of life

La amazonia brasileña entre fronteras, conflictos y migraciones

Este dossier está dedicado a la Amazonia brasileña. Se trata de una historia poco conocida en España y un poco más conocida en Portugal e incluso en Brasil; se propone presentar al lector europeo y de ultramar la producción más reciente de investigación de las universidades más importantes de la Amazonia brasileña: Universidade Federal do Pará (UFPA) y la Universidade Federal do Amazonas (UFA). Las autoras aquí reunidas hace al menos una década que investigan y publican sobre el tema. Es importante destacar el papel de estas profesoras en la búsqueda de nuevas líneas de investigación sobre la Amazonia. El camino que han escogido es difícil, ya que la documentación se encuentra dispersa, desde los archivos públicos en el interior de la Amazonia hasta los de Lisboa, Oporto, Barcelona o Madrid. Muchas veces sus fuentes están fragmentadas y son huidizas, pues se dividen entre mundos diferentes, con lenguas y culturas dispares. No obstante, al leer estos artículos el lector tendrá la certeza de que es importante conocer esta parte de América y su historia. Todos debemos saber que la Amazonia como un todo -y la brasileña en particular− es más amplia que la descripción física de sus ríos, selvas y pueblos indígenas relegados a un eterno presente etnográfico. Y que a pesar de la importancia fundamental de su naturaleza y de su actual lucha por preservarla, lo que se resalta en este conjunto de artículos es la historia humana en su tiempo vivido a través de su memoria. Saltan a la vista los muchos conflictos acaecidos, pero también las estrategias gubernamentales y los grandes proyectos migratorios para la región

Long-term follow-up of IPEX syndrome patients after different therapeutic strategies : an international multicenter retrospective study

Background: Immunodysregulation polyendocrinopathy enteropathy x-linked(IPEX) syndrome is a monogenic autoimmune disease caused by FOXP3 mutations. Because it is a rare disease, the natural history and response to treatments, including allogeneic hematopoietic stem cell transplantation (HSCT) and immunosuppression (IS), have not been thoroughly examined. Objective: This analysis sought to evaluate disease onset, progression, and long-term outcome of the 2 main treatments in long-term IPEX survivors. Methods: Clinical histories of 96 patients with a genetically proven IPEX syndrome were collected from 38 institutions worldwide and retrospectively analyzed. To investigate possible factors suitable to predict the outcome, an organ involvement (OI) scoring system was developed. Results: We confirm neonatal onset with enteropathy, type 1 diabetes, and eczema. In addition, we found less common manifestations in delayed onset patients or during disease evolution. There is no correlation between the site of mutation and the disease course or outcome, and the same genotype can present with variable phenotypes. HSCT patients (n = 58) had a median follow-up of 2.7 years (range, 1 week-15 years). Patients receiving chronic IS (n 5 34) had a median follow-up of 4 years (range, 2 months-25 years). The overall survival after HSCT was 73.2% (95% CI, 59.4-83.0) and after IS was 65.1% (95% CI, 62.8-95.8). The pretreatment OI score was the only significant predictor of overall survival after transplant (P = .035) but not under IS. Conclusions: Patients receiving chronic IS were hampered by disease recurrence or complications, impacting long-term.disease-free survival. When performed in patients with a low OI score, HSCT resulted in disease resolution with better quality of life, independent of age, donor source, or conditioning regimen

Measurement of the top quark forward-backward production asymmetry and the anomalous chromoelectric and chromomagnetic moments in pp collisions at √s = 13 TeV

Abstract The parton-level top quark (t) forward-backward asymmetry and the anomalous chromoelectric (d̂ t) and chromomagnetic (μ̂ t) moments have been measured using LHC pp collisions at a center-of-mass energy of 13 TeV, collected in the CMS detector in a data sample corresponding to an integrated luminosity of 35.9 fb−1. The linearized variable AFB(1) is used to approximate the asymmetry. Candidate t t ¯ events decaying to a muon or electron and jets in final states with low and high Lorentz boosts are selected and reconstructed using a fit of the kinematic distributions of the decay products to those expected for t t ¯ final states. The values found for the parameters are AFB(1)=0.048−0.087+0.095(stat)−0.029+0.020(syst),μ̂t=−0.024−0.009+0.013(stat)−0.011+0.016(syst), and a limit is placed on the magnitude of | d̂ t| < 0.03 at 95% confidence level. [Figure not available: see fulltext.

MUSiC : a model-unspecific search for new physics in proton-proton collisions at root s=13TeV

Results of the Model Unspecific Search in CMS (MUSiC), using proton-proton collision data recorded at the LHC at a centre-of-mass energy of 13 TeV, corresponding to an integrated luminosity of 35.9 fb(-1), are presented. The MUSiC analysis searches for anomalies that could be signatures of physics beyond the standard model. The analysis is based on the comparison of observed data with the standard model prediction, as determined from simulation, in several hundred final states and multiple kinematic distributions. Events containing at least one electron or muon are classified based on their final state topology, and an automated search algorithm surveys the observed data for deviations from the prediction. The sensitivity of the search is validated using multiple methods. No significant deviations from the predictions have been observed. For a wide range of final state topologies, agreement is found between the data and the standard model simulation. This analysis complements dedicated search analyses by significantly expanding the range of final states covered using a model independent approach with the largest data set to date to probe phase space regions beyond the reach of previous general searches.Peer reviewe