Avaluació del programa d'inserció sociolaboral Aprendre a aprendre

Altre títol: Informe executiu d'avaluació del programa d'inserció sociolaboral Aprendre a aprendreAquest informe executiu és una síntesi de l'Informe general d'avaluació del programa d' inserció sociolaboral "Aprendre a aprendre" elaborat pel Departament de Governació i Administracions Públiques de la Generalitat de Catalunya pel Grup d'Anàlisi de Polítiques Educatives i de Formació (GAPEF) de la Universitat Autònoma de Barcelona. El projecte d'avaluació que es presenta a continuació pretén analitzar l'evolució del programa "Aprendre a aprendre" al llarg dels últims anys; valorar els resultats que s'han derivat de la seva aplicació i l'impacte que ha produït en els 11 barris on s'està desenvolupant. El que es vol saber és si aquest programa dona respostes a necessitats reals; si ho fa d'una manera apropiada; si aquesta és la millor manera de respondre les necessitats d'inserció sociolaboral dels barris I, per últim, es vol saber també què pensen d'aquest programa i com el valoren els diferents tècnics implicats, les persones que hi participen i les institucions i entitats dels barris en els que s'està desenvolupant. Del que es tracta, en definitiva, és de conèixer tota aquella informació rellevant sobre el desenvolupament i els resultats d'aquest programa per a facilitar la presa de decisions. Hom entén que només, a partir de l'avaluació rigorosa d'un programa, és possible establir línies d'acció orientades vers la seva millora. Aquest informe executiu presenta totes les informacions necessàries per a conèixer la forma en que s'ha desenvolupat el procés d'avaluació, és a dir, el plantejament general teòric i metodològic seguit per a la recol·lecció i tractament de la informació. A continuació es plantegen les conclusions elaborades i les recomanacions i proposta fetes per a poder prendre decisions en relació al programa

El Panel de Desigualtats Socials a Catalunya (PaD): una aportació singular a la història de l'anàlisi longitudinal a Catalunya

L'article descriu les principals fites metodològiques del Panel de Desigualtats Socials a Catalunya (PaD). El PaD és una enquesta pionera en les ciències socials al nostre país en l'ús de la perspectiva longitudinal sobre la base d'una mostra panel pura. El text mostra les especificitats d'aquesta eina en els àmbits del qüestionari, la mostra, el treball de camp i les matrius de dades, i repassa algunes de les aportacions inèdites en l'àmbit de la pobresa, el treball o la mobilitat social, així com l'estat de la recerca amb dades PaD actuals. La possibilitat de seguir els mateixos individus durant anys permet formular preguntes de tipus dinàmic, sobre les trajectòries dels individus i sobre els efectes dels canvis que es produeixen en les seves vides, i aconseguir noves respostes que permeten ampliar el coneixement existent. Actualment, el PaD compleix deu anys de la seva existència.This article describes the main methodological milestones of the Panel on Social Inequalities in Catalonia (PaD). The PaD is a pioneer survey in Catalonia on social sciences concerning the use of a longitudinal perspective based on a pure panel sample. The text shows the specificity of this tool when it comes to the questionnaire, the sample, fieldwork and data matrices, and it reviews some of the latest findings in the field of poverty, employment or social mobility along with the situation in terms of the research conducted using PaD data at present. Being able to follow the same individuals for a number of years makes it possible to ask dynamic questions on the backgrounds of individuals and the effects of changes occurring in their lives, whilst obtaining new answers allowing us to expand on existing knowledge. As of the present time, the PaD has been in existence for 10 years

Comprehensive analysis of GABAA-A1R developmental alterations in Rett Syndrome: setting the focus for therapeutic targets in the time frame of the disease

Rett syndrome, a serious neurodevelopmental disorder, has been associated with an altered expression of different synaptic-related proteins and aberrant glutamatergic and γ-aminobutyric acid (GABA)ergic neurotransmission. Despite its severity, it lacks a therapeutic option. Through this work we aimed to define the relationship between MeCP2 and GABAA.-A1 receptor expression, emphasizing the time dependence of such relationship. For this, we analyzed the expression of the ionotropic receptor subunit in different MeCP2 gene-dosage and developmental conditions, in cells lines, and in primary cultured neurons, as well as in different developmental stages of a Rett mouse model. Further, RNAseq and systems biology analysis was performed from post-mortem brain biopsies of Rett patients. We observed that the modulation of the MeCP2 expression in cellular models (both Neuro2a (N2A) cells and primary neuronal cultures) revealed a MeCP2 positive effect on the GABAA.-A1 receptor subunit expression, which did not occur in other proteins such as KCC2 (Potassium-chloride channel, member 5). In the Mecp2+/- mouse brain, both the KCC2 and GABA subunits expression were developmentally regulated, with a decreased expression during the pre-symptomatic stage, while the expression was variable in the adult symptomatic mice. Finally, the expression of the gamma-aminobutyric acid (GABA) receptor-related synaptic proteins from the postmortem brain biopsies of two Rett patients was evaluated, specifically revealing the GABA A1R subunit overexpression. The identification of the molecular changes along with the Rett syndrome prodromic stages strongly endorses the importance of time frame when addressing this disease, supporting the need for a neurotransmission-targeted early therapeutic intervention

IPSC‐based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation

Tyrosine hydroxylase deficiency (THD) is a rare genetic disorder leading to dopaminergic depletion and early-onset Parkinsonism. Affected children present with either a severe form that does not respond to L-Dopa treatment (THD-B) or a milder L-Dopa responsive form (THD-A). We generated induced pluripotent stem cells (iPSCs) from THD patients that were differentiated into dopaminergic neurons (DAn) and compared with control-DAn from healthy individuals and gene-corrected isogenic controls. Consistent with patients, THD iPSC-DAn displayed lower levels of DA metabolites and reduced TH expression, when compared to controls. Moreover, THD iPSC-DAn showed abnormal morphology, including reduced total neurite length and neurite arborization defects, which were not evident in DAn differentiated from control-iPSC. Treatment of THD-iPSC-DAn with L-Dopa rescued the neuronal defects and disease phenotype only in THDA-DAn. Interestingly, L-Dopa treatment at the stage of neuronal precursors could prevent the alterations in THDB-iPSC-DAn, thus suggesting the existence of a critical developmental window in THD. Our iPSC-based model recapitulates THD disease phenotypes and response to treatment, representing a promising tool for investigating pathogenic mechanisms, drug screening, and personalized management

Cognitive stimulation has potential for brain activation in individuals with Rett syndrome

Background: Knowledge regarding neuropsychological training in Rett syndrome (RS) is scarce. The aim of this study was to assess the outcome and the duration of the effect of cognitive stimulation on topographic EEG data in RS. Method: Twenty female children diagnosed with RS were included in the analysis. Girls with RS conducted a cognitive task using an eye-tracker designed to evaluate access and choice skills. EEG data was acquired during the experimental procedure including two 10-minutes baseline stages before and after the task. Topographical changes of several EEG spectral markers including absolute and relative powers, brain symmetry index and entropy were assessed. Results: Topographic significance probability maps suggested statistical decreases on delta activity and increases on beta rhythm associated with the cognitive task. Entropy increased during and after the task, likely related to more complex brain activity. A significant positive interaction was obtained between brain symmetry index (BSI) and age showing that the improvement of interhemispheric symmetry was higher in younger girls (5-10 years). Conclusions: According to our findings, significant alterations of brain rhythms were observed during and after cognitive stimulation, suggesting that cognitive stimulation may have effects on brain activity beyond the stimulation period. Finally, our promising results also showed an increased brain symmetry that was especially relevant for the younger group. This could suggest an interaction of the eye-tracking cognitive task, however, further studies in this field are needed to assess the relation between brain asymmetries and age.We would like to acknowledge specific funding support from the Spanish Patient Associations Mi Princesa Rett and Rettando al Síndrome de Rett. This project has also received funding from Torrons Vicens and the Ministry of Science and Innovation (MICINN), Spain, under contract PID2020-117751RB-I00. CIBER-BBN is an initiative of the Instituto de Salud Carlos III, Spain. A. Bachiller is a Serra Húnter Fellow. A.García-Cazorla is supported by FIS P118/00111 “Instituto de Salud Carlos III (ISCIII)” and “Fondo Europeo de desarrollo regional (FEDER)”. A. Tost has received the predoctoral scholarship FI-AGAUR from the Generalitat de Catalunya.Peer ReviewedPostprint (author's final draft

Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspition of RASopathy and children with multiple café-au-lait macules

Children with neurofibromatosis type 1 (NF1) may exhibit an incomplete clinical presentation, making difficult to reach a clinical diagnosis. A phenotypic overlap may exist in children with other RASopathies or with other genetic conditions if only multiple café‐au‐lait macules (CALMs) are present. The syndromes that can converge in these inconclusive phenotypes have different clinical courses. In this context, an early genetic testing has been proposed to be clinically useful to manage these patients. We present the validation and implementation into diagnostics of a custom NGS panel (I2HCP, ICO‐IMPPC Hereditary Cancer Panel) for testing patients with a clinical suspicion of a RASopathy (n = 48) and children presenting multiple CALMs (n = 102). We describe the mutational spectrum and the detection rates identified in these two groups of individuals. We identified pathogenic variants in 21 out of 48 patients with clinical suspicion of RASopathy, with mutations in NF1 accounting for 10% of cases. Furthermore, we identified pathogenic mutations mainly in the NF1 gene, but also in SPRED1, in more than 50% of children with multiple CALMs, exhibiting an NF1 mutational spectrum different from a group of clinically diagnosed NF1 patients (n = 80). An NGS panel strategy for the genetic testing of these two phenotype‐defined groups outperforms previous strategie

GDF-15 is elevated in children with mitochondrial diseases and is induced by mitochondrial dysfunction

Background We previously described increased levels of growth and differentiation factor 15 (GDF-15) in skeletal muscle and serum of patients with mitochondrial diseases. Here we evaluated GDF-15 as a biomarker for mitochondrial diseases affecting children and compared it to fibroblast-growth factor 21 (FGF-21). To investigate the mechanism of GDF-15 induction in these pathologies we measured its expression and secretion in response to mitochondrial dysfunction. Methods We analysed 59 serum samples from 48 children with mitochondrial disease, 19 samples from children with other neuromuscular diseases and 33 samples from aged-matched healthy children. GDF-15 and FGF-21 circulating levels were determined by ELISA. Results Our results showed that in children with mitochondrial diseases GDF-15 levels were on average increased by 11-fold (mean 4046pg/ml, 1492 SEM) relative to healthy (350, 21) and myopathic (350, 32) controls. The area under the curve for the receiver-operating-characteristic curve for GDF-15 was 0.82 indicating that it has a good discriminatory power. The overall sensitivity and specificity of GDF-15 for a cut-off value of 550pg/mL was 67.8% (54.4%-79.4%) and 92.3% (81.5%-97.9%), respectively. We found that elevated levels of GDF-15 and or FGF-21 correctly identified a larger proportion of patients than elevated lev- els of GDF-15 or FGF-21 alone. GDF-15, as well as FGF-21, mRNA expression and protein secretion, were significantly induced after treatment of myotubes with oligomycin and that levels of expression of both factors significantly correlated. Conclusions Our data indicate that GDF-15 is a valuable serum quantitative biomarker for the diagnosis of mitochondrial diseases in children and that measurement of both GDF-15 and FGF-21 improves the disease detection ability of either factor separately. Finally, we demonstrate for the first time that GDF-15 is produced by skeletal muscle cells in response to mitochon- drial dysfunction and that its levels correlate in vitro with FGF-21 level

Guia d’actuació enfront de casos d’infecció pel nou coronavirus SARS-CoV-2 en dones embarassades i nadons

Coronavirus SARS-CoV-2; COVID-19; 2019-nCoV; Dones embarassades; NadonsCoronavirus SARS-CoV-2; COVID-19; 2019-nCoV; Mujeres embarazadas; BebésCoronavirus SARS-CoV-2; COVID-19; 2019-nCoV; Pregnant women; BabiesEn aquest document s’estableixen les pautes a seguir en l’abordatge de l’atenció a les dones embarassades i puèrperes i dels nadons en la situació epidemiològica actual. S’estableixen els centres de referència per a l’atenció obstètrica a les dones amb infecció COVID-19 que requereixen un ingrés hospitalari durant l’embaràs, i també els centres de referència per a l’atenció al part a les dones amb infecció per COVID-19 amb simptomatologia lleu que no requereixen ingrés hospitalari