La enseñanza del diseño en modalidad virtual

En la actualidad la enseñanza online ha sido una actividad que la mayoría de los docentes ha tenido que ejercitar y sobre todo en contextos de pandemia mundial.&nbsp

Dynamics of Poverty, Labor Market and Public Policies in Latin America

Latin America experienced six years of sustained growth from 2003-2008. The high rate of economic growth over these years – before the 2008-2009 crisis – positively impacted social and labour market indicators. Evidence of these positive impacts can be seen in the form of job creation (particularly formal occupations), reduced unemployment and a slight recovery of average wages. During the period of interest, the rates of poverty and extreme poverty in the region respectively fell by 11 and 6 percentage points (p.p.). It is highly pertinent, in this context, to study the dynamics of poverty in the region and to analyze the flows into and out of poverty that accompanied this significant reduction in poverty. The main objective of this paper is to carry out a comparative study of poverty dynamics in five Latin American countries. The study specifically aims to analyze the extent to which countries with various levels of poverty incidence differ in terms of the intensity of poverty exits and entries, identify the relative importance of events associated with poverty transitions (such as factors in the labour market, demographic change and public policy), and finally, this study aims to examine the ways in which these events affect households with different characteristics.In order to achieve these objectives, we perform a dynamic analysis of panel data from regular household surveys. Of the five countries included in the study, Argentina and Costa Rica are found to have a relatively low incidence of poverty, Brazil is in an intermediary situation in this regard, while relatively high rates of poverty are found in Ecuador and Peru. This heterogeneous selection gives us a varied picture of social deprivation in the region.This dynamic analysis is useful for policy recommendations to overcome high poverty levels in the region, both by reducing the probability of falling into poverty and increasing the chances of moving out of poverty.Poverty dynamics, Latin America, Labour market, Social policy

Alfabetización en salud y COVID-19 en mayores: aproximación desde la Farmacia Comunitaria

Introducción: La alfabetización en salud son las habilidades cognitivas y sociales que determinan que los individuos puedan acceder, entender y usar la información para promover y mantener su salud. La necesidad de estas habilidades ha sido notable en la pandemia.  Método: Se realiza un cuestionario específico a los pacientes mayores de 60 años. Este consta de tres partes: el instrumento HLS-EU-Q16 adaptado a COVID-19, preguntas sobre la actuación del farmacéutico y la herramienta SAHLSA. Resultados: La población era mayoritariamente femenina (75,4%) y su edad era de 79,2±9,4 años. El nivel educativo mayoritario fue de educación primaria (34,4%), predominando éste y el sin estudios en mayores de 80 años. El cuestionario HLS-EU-Q16 reveló que la alfabetización en salud sobre COVID-19 era deficiente (23%), insuficiente (70,5%) y suficiente (6,6%). El cuestionario SAHLSA mostró alfabetización suficiente en el 80%. Mientras que el primer cuestionario no mostró relación con el nivel educativo, ningún bachiller o universitario presentó valores insuficientes en el cuestionario SAHLSA. Por último, los entrevistados consideraron como primer sanitario al que acudir para obtener información fiable al médico (77%), seguido por el farmacéutico (13%). El 75% consideró que el farmacéutico le había ayudado a comprender las precauciones frente a la COVID-19.  Conclusiones: Los pacientes presentan dificultades para identificar la información fiable y para encontrar información de tratamientos frente a la COVID. Esta necesidad no está relacionada con el nivel educativo ni con la alfabetización en salud en otras áreas. El farmacéutico puede ser un agente clave en resolver esta necesidad

Alfabetización en salud y COVID-19 en mayores: aproximación desde la Farmacia Comunitaria

Introducción: La alfabetización en salud son las habilidades cognitivas y sociales que determinan que los individuos puedan acceder, entender y usar la información para promover y mantener su salud. La necesidad de estas habilidades ha sido notable en la pandemia.  Método: Se realiza un cuestionario específico a los pacientes mayores de 60 años. Este consta de tres partes: el instrumento HLS-EU-Q16 adaptado a COVID-19, preguntas sobre la actuación del farmacéutico y la herramienta SAHLSA. Resultados: La población era mayoritariamente femenina (75,4%) y su edad era de 79,2±9,4 años. El nivel educativo mayoritario fue de educación primaria (34,4%), predominando éste y el sin estudios en mayores de 80 años. El cuestionario HLS-EU-Q16 reveló que la alfabetización en salud sobre COVID-19 era deficiente (23%), insuficiente (70,5%) y suficiente (6,6%). El cuestionario SAHLSA mostró alfabetización suficiente en el 80%. Mientras que el primer cuestionario no mostró relación con el nivel educativo, ningún bachiller o universitario presentó valores insuficientes en el cuestionario SAHLSA. Por último, los entrevistados consideraron como primer sanitario al que acudir para obtener información fiable al médico (77%), seguido por el farmacéutico (13%). El 75% consideró que el farmacéutico le había ayudado a comprender las precauciones frente a la COVID-19.  Conclusiones: Los pacientes presentan dificultades para identificar la información fiable y para encontrar información de tratamientos frente a la COVID. Esta necesidad no está relacionada con el nivel educativo ni con la alfabetización en salud en otras áreas. El farmacéutico puede ser un agente clave en resolver esta necesidad

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Cell Biology; Genetics; NeurodevelopmentBiologia cel·lular; Genètica; NeurodesenvolupamentBiología celular; Genética; NeurodesarrolloNeural differentiation, synaptic transmission, and action potential propagation depend on membrane sphingolipids, whose metabolism is tightly regulated. Mutations in the ceramide transporter CERT (CERT1), which is involved in sphingolipid biosynthesis, are associated with intellectual disability, but the pathogenic mechanism remains obscure. Here, we characterize 31 individuals with de novo missense variants in CERT1. Several variants fall into a previously uncharacterized dimeric helical domain that enables CERT homeostatic inactivation, without which sphingolipid production goes unchecked. The clinical severity reflects the degree to which CERT autoregulation is disrupted, and inhibiting CERT pharmacologically corrects morphological and motor abnormalities in a Drosophila model of the disease, which we call ceramide transporter (CerTra) syndrome. These findings uncover a central role for CERT autoregulation in the control of sphingolipid biosynthetic flux, provide unexpected insight into the structural organization of CERT, and suggest a possible therapeutic approach for patients with CerTra syndrome.This work was supported by the National Institute of Neurological Disorders and Stroke (NINDS), NIH (R01NS109858, to VAG); the Paul A. Marks Scholar Program at the Columbia University Vagelos College of Physicians and Surgeons (to VAG); a TIGER grant from the TAUB Institute at the Columbia Vagelos College of Physicians and Scientists (to VAG); the Swiss National Science Foundation (SNF 31003A-179371, to TH); the European Joint Program on Rare Diseases (EJP RD+SNF 32ER30-187505, to TH); the Swiss Cancer League (KFS-4999-02-2020, to GD); the EPFL institutional fund (to GD); the Kristian Gerhard Jebsen Foundation (to GD); the Swiss National Science Foundation (SNSF) (310030_184926, to GD); the Swiss Foundation for Research on Muscle Disease (FSRMM, to MAL); the Natural Science and Engineering Research Council of Canada (Discovery Grant 2020-04241, to JEB); the Italian Ministry of Health Young Investigator Grant (GR-2011-02347754, to EL); the Fondazione Istituto di Ricerca Pediatrica – Città della Speranza (18-04, to EL); the Wroclaw Medical University (SUB.E160.21.004, to RS); the National Science Centre, Poland (2017/27/B/NZ5/0222, to RS); Telethon Undiagnosed Diseases Program (TUDP) (GSP15001); the Temple Street Foundation/Children’s Health Foundation Ireland (RPAC 19-02, to IK); the Deutsche Forschungsgemeinschaft (DFG) (PO2366/2–1, to BP); the Instituto de Salud Carlos III, Spain (to ELM, EBS, and BMD); the National Natural Science Foundation of China (81871079 and 81730036, to HG and KX); and the National Institutes of Diabetes and Digestive and Kidney Diseases (NIDDK), NIH (R01 DK115574, to SSC)

Patient with adrenal insufficiency due to a de novo mutation in the NR0B1 gene

Adrenal insufficiency; Congenital adrenal hypoplasiaInsuficiència suprarenal; Hipoplàsia suprarenal congènitaInsuficiencia suprarrenal; Hipoplasia suprarrenal congénitaObjectives Congenital X-linked adrenal hypoplasia is a rare disease with a known genetic basis characterized by adrenal insufficiency, hypogonadotropic hypogonadism, and a wide variety of clinical manifestations. Case presentation We present the case of a 26-day old male newborn with symptoms consistent with adrenal insufficiency, hyponatremia, and hyperkalemia. Following NaCl and fludrocortisone supplementation, the patient remained clinically stable. 17-OH-progesterone testing excluded congenital adrenal hyperplasia. The rest of hormones were within normal limits, except for adrenocorticotropic hormone (ACTH), which was significantly elevated, and aldosterone, which was below the reference value. Further testing included very long chain fatty acids to exclude adrenoleukodystrophy, the CYP11B2 gene (aldosterone synthase), and an MRI to screen for other morphological abnormalities. All tests yielded normal results. Finally, after cortisol deficiency was detected, expanded genetic testing revealed a mutation in the NR0B1 gene, which led to a diagnosis of congenital adrenal hypoplasia. Conclusions Diagnosis of congenital adrenal hypoplasia is challenging due to the heterogeneity of both clinical manifestations and laboratory abnormalities. As a result, diagnosis requires close monitoring and genetic testing

Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) consists of several autosomal recessive disorders that inhibit steroid biosynthesis. We describe a case report diagnosed with adrenal insufficiency due to low adrenal steroids and adrenocorticotropic hormone excess due to lack of cortisol negative feedback signaling to the pituary gland. Genetic work up revealed two missense variants, p.Thr204Arg and p.Leu260Arg in the STAR gene, inherited by both parents (non-consanguineous). The StAR protein supports CYP11A1 enzyme to cleave the side chain of cholesterol and synthesize pregnenolone which is metabolized to all steroid hormones. We used bioinformatics to predict the impact of the variants on StAR activity and then we performed functional tests to characterize the two novel variants. In a cell system we tested the ability of variants to support cholesterol conversion to pregnenolone and measured their mRNA and protein expression. For both variants, we observed loss of StAR function, reduced protein expression and categorized them as pathogenic variants according to guidelines of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. These results fit the phenotype of the girl during diagnosis. This study characterizes two novel variants and expands the list of missense variants that cause CAH

The multikinase inhibitor EC‐70124 synergistically increased the antitumor activity of doxorubicin in sarcomas

Cytotoxic drugs like doxorubicin remain as the most utilized agents in sarcoma treatment. However, advanced sarcomas are often resistant, thus stressing the need for new therapies aimed to overcome this resistance. Multikinase inhibitors provide an efficient way to target several pro-tumorigenic pathways using a single agent and may constitute a valuable strategy in the treatment of sarcomas, which frequently show an aberrant activation of pro-tumoral kinases. Therefore, we studied the antitumor activity of EC-70124, an indolocarbazole analog that have demonstrated a robust ability to inhibit a wide range of pro-survival kinases. Evaluation of the phospho-kinase profile in cell-of-origin sarcoma models and/or sarcoma primary cell lines evidenced that PI3K/AKT/mTOR, JAK/STAT or SRC were among the most highly activated pathways. In striking contrast with the structurally related drug midostaurin, EC-70124 efficiently prevented the phosphorylation of these targets and robustly inhibited proliferation through a mechanism associated to the induction of DNA damage, cell cycle arrest and apoptosis. In addition, EC-70124 was able to partially reduce tumor growth in vivo. Importantly, this compound inhibited the expression and activity of ABC efflux pumps involved in drug resistance. In line with this ability, we found that the combined treatment of EC-70124 with doxorubicin resulted in a synergistic cytotoxic effect in vitro and an increased antitumor activity of this cytotoxic drug in vivo. Altogether, these results uncover the capability of the novel multikinase inhibitor EC-70124 to counteract drug resistance in sarcoma and highlight its therapeutic potential when combined with current treatmentsPeer ReviewedPostprint (author's final draft

Structural evolution, optical gap and thermoelectric properties of CH3NH3SnBr3 hybrid perovskite, prepared by mechanochemistry

Direct bandgap semiconductors of the hybrid-perovskite family CH3NH3PbX3 (X = I, Br, Cl) exhibit outstanding light absorption properties and are the materials of choice for solar energy applications. As an alternative to poisonous Pb, tin-containing perovskites would show a lower effective mass thus exhibiting a higher charge carrier mobility. An auspicious candidate is CH3NH3SnBr3, with an estimated band gap of 1.902 eV, anticipating applications in photovoltaic devices for the visible to ultra-violet wavelength region. We describe that this perovskite can be prepared by ball milling in a straightforward way, yielding specimens with a superior crystallinity. A structural investigation from synchrotron X-ray powder diffraction (SXRD) data was essential to revisit the successive phase transitions this compound experiences down to 120 K, guided by specific heat capacity and DSC measurements. From the cubic structure identified at RT and 270 K, there is a gradual evolution of the patterns, analysed as a phase admixture between the cubic and the low-symmetry phase present at 160 K. This corresponds to an orthorhombic Pmc21 superstructure; this acentric space group enables polarization along the c-axis where there is a twofold screw axis, evidenced in the distribution of Sn-Br distances. Furthermore, there are two conspicuous changes in the orthorhombic framework, yet keeping the Pmc21 space group, which agree with the main calorimetric events (observed at 224 and 147 K). We interpret these changes as an interplay between the tilting of the SnBr6 octahedra of the inorganic framework and the breaking and reconstruction of H-bond interactions with the organic CH3NH+3 unit. The stereochemical effect of the lone electron pair of the Sn2+ ion is clear in the SnBr6 octahedral distortion. Diffuse reflectance UV/Vis spectroscopy yields an optical gap of ∼2.1 eV, in agreement with ab- initio calculations. A Seebeck coefficient of ∼2000 μV K-1 is determined near RT, which is one order of magnitude higher than those reported for other halide perovskites.Fil: Lopez, Carlos Alberto. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - San Luis. Instituto de Investigaciones en Tecnología Química. Universidad Nacional de San Luis. Facultad de Química, Bioquímica y Farmacia. Instituto de Investigaciones en Tecnología Química; Argentina. Instituto de Ciencia de Materiales de Madrid; EspañaFil: Abia, Carmen. Institut Laue Langevin; Francia. Instituto de Ciencia de Materiales de Madrid; EspañaFil: Gainza, Javier. Instituto de Ciencia de Materiales de Madrid; EspañaFil: Kayser, Paula. Instituto de Ciencia de Materiales de Madrid; EspañaFil: Nemes, Norbert. Instituto de Ciencia de Materiales de Madrid; EspañaFil: Dura, Oscar J.. Universidad de Castilla-La Mancha; EspañaFil: Martinez, Jose L.. Instituto de Ciencia de Materiales de Madrid; EspañaFil: Fernandez Diaz, Maria Teresa. Institut Laue Langevin; FranciaFil: Alvarez Galvan, M. Consuelo. Consejo Superior de Investigaciones Científicas; EspañaFil: Alonso, José Antonio. Instituto de Ciencia de Materiales de Madrid; Españ