Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population

BACKGROUND: X-linked hypophosphatemia (XLH) is a hereditary rare disease caused by loss-of-function mutations in PHEX gene leading tohypophosphatemia and high renal loss of phosphate. Rickets and growth retardation are the major manifestations of XLH in children, but there is a broad phenotypic variability. Few publications have reported large series of patients. Current data on the clinical spectrum of the disease, the correlation with the underlying gene mutations, and the long-term outcome of patients on conventional treatment are needed, particularly because of the recent availability of new specific medications to treat XLH. RESULTS: The RenalTube database was used to retrospectively analyze 48 Spanish patients (15 men) from 39 different families, ranging from 3months to 8years and 2months of age at the time of diagnosis (median age of 2.0years), and with XLH confirmed by genetic analysis. Bone deformities, radiological signs of active rickets and growth retardation were the most common findings at diagnosis. Mean (±SEM) height was - 1.89±0.19 SDS and 55% (22/40) of patients had height SDS below-2. All cases had hypophosphatemia, serum phosphate being - 2.81±0.11 SDS. Clinical manifestations and severity of the disease were similar in both genders. No genotype-phenotype correlation was found. Conventional treatment did not attenuate growth retardation after a median follow up of 7.42years (IQR=11.26; n=26 patients) and failed to normalize serum concentrations of phosphate. Eleven patients had mild hyperparathyroidism and 8 patients nephrocalcinosis. CONCLUSIONS: This study shows that growth retardation and rickets were the most prevalent clinical manifestations at diagnosis in a large series of Spanish pediatric patients with XLH confirmed by mutations in the PHEX gene. Traditional treatment with phosphate and vitamin D supplements did not improve height or corrected hypophosphatemia and was associated with a risk of hyperparathyroidism and nephrocalcinosis. The severity of the disease was similar in males and females

A study protocol for development and validation of a clinical prediction model for frailty (ModulEn): a new European commitment to tackling frailty

There is a growing need to implement and evaluate the technological solutions that allow the early detection of age-related frailty and enable assessment of the predictive values of frailty components. The broad use of these solutions may ensure an efficient and sustainable response of health and social care systems to the challenges related to demographic aging. In this paper, we present the protocol of the ModulEn study that aims to develop and validate a predictive model for frailty. For this purpose, the sample composed by older adults aged 65-80 years and recruited from the community will be invited to use an electronic device ACM Kronowise® 2.0. This device allows proactive and continuous monitoring of circadian health, physical activity, and sleep and eating habits. It will be used during a period of seven to ten days. The participants will also be given the questionnaires evaluating the variables of interest, including frailty level, as well as their experience and satisfaction with the device use. Data provided from these two sources will be combined and the relevant associations will be identified. In our view, the implications of this study' findings for clinical practice include the possibility to develop and validate tools for timely prevention of frailty progress. In the long term, the ModulEn may contribute to the critical reduction of frailty burden in Europe

La docencia en emprendimiento y emprendimiento social en los ecosistemas universitarios de referencia: Aplicación de las metodologías docentes de aprender a emprender en la Universidad Complutense de Madrid.

Fac. de Ciencias Económicas y EmpresarialesFALSEsubmitte

Evaluación del perfil competencial del estudiantado UCM por nivel de iniciativa emprendedora y género. Validación del Modelo Entrecomp de competencias emprendedoras

Examinar la relación entre las competencias emprendedoras propuestas por el Marco Europeo de Competencias Emprendedoras (Entrecomp) y el nivel de intención emprendedora. Se consideran las siguientes variables: sexo, estudios que realiza, si compagina trabajo y estudio, y Universidad en la que estudia

Variables psicológicas implicadas en la actitud e iniciativa emprendedora

Identificar variables individuales relacionadas con la iniciativa emprendedora y el fomento de competencias transversales relacionadas con la misma, supone un desafío en la investigación actual sobre emprendimiento. El proyecto titulado Variables psicológicas implicadas en la actitud e iniciativa emprendedora, realizado bajo el programa Innova Docencia promovido por el Vicerrectorado de Calidad de la UCM en la convocatoria 2016-2017, ha tenido por objetivo analizar y evaluar variables psicológicas relacionadas con emprendimiento que presentan una muestra de estudiantes de la Universidad Complutense de Madrid. En dicho estudio han participado 1222 estudiantes de la UCM correspondientes a 27 titulaciones: 14 de Grado, 2 de Dobles Grados, y 11 de Máster. El 28,6% de la muestra fueron hombres y el 71% fueron mujeres. La media de edad fue de 20,43 años. El equipo investigador estuvo compuesto por 40 personas: 25 PDI de la UCM, 2 PAS, 8 alumnos y alumnas, 1 técnico, y 4 PDI de las universidades de Castilla-La Mancha (UCLM), UNED, Carlos III de Madrid (UC3M), y Alcalá de Henares (UAH). El PDI de la UCM correspondía a las siguientes facultades: Psicología (7), Ciencias de la Documentación (3), Ciencias Económicas y Empresariales (6), Ciencias Políticas y Sociología (3), Comercio (1), Trabajo Social (1), Ciencias Biológicas (2), Informática (1), y Bellas Artes (1). Un equipo UCM perteneciente a 9 facultades, que representó a 13 departamentos y a todas las áreas de conocimiento. La metodología empleada consistió en un cuestionario que evaluaba los siguientes aspectos: datos sociodemográficos, actitud emprendedora, y las variables psicológicas: personalidad, inteligencia emocional, resolución de problemas y tolerancia a la ambigüedad. Se optó por instrumentos estandarizados, con buenas características psicométricas de fiabilidad y validez que permitieran obtener resultados robustos, con amplia evidencia empírica y que evaluaban adecuadamente variables que la literatura ha relacionado con la actitud e iniciativa emprendedora. Además todos ellos se han utilizado en investigaciones relacionadas con emprendimiento, lo que aumentó la validez externa. Se ha analizado la iniciativa emprendedora desde el punto de vista de los estudiantes y también teniendo en cuenta variables del entorno familiar y personal. Los resultados nos muestran que son las variables psicológicas de extraversión, reparación emocional y estrategias de resolución de problemas las que predicen la iniciativa emprendedora. Los estudiante que compaginan estudios y trabajo tienen una mayor iniciativa emprendedora, y aquellos cuyos padres y/o pareja desarrollan su actividad laboral como autónomos. Se presentan datos por titulación académica, sexo, actividad laboral de los padres y compaginar estudios y trabajo. Se muestran datos de todas las variables psicológicas por titulación académica, y una comparativa de dichas variables entre los universitarios, un grupo de estudiantes de Formación Profesional (FP) y una muestra de emprendedores reales. Los resultados obtenidos son relevantes para tomar decisiones orientadas a la mejora de la actitud, iniciativa y comportamiento emprendedor. Permitirán el diseño y ejecución de actividades académicas para sensibilizar a los estudiantes en la cultura emprendedora, y formar en competencias transversales, cada vez más demandadas, para mejorar la empleabilidad y competitividad como claves para el crecimiento de nuestra sociedad

The Changing Landscape for Stroke\ua0Prevention in AF: Findings From the GLORIA-AF Registry Phase 2

Background GLORIA-AF (Global Registry on Long-Term Oral Antithrombotic Treatment in Patients with Atrial Fibrillation) is a prospective, global registry program describing antithrombotic treatment patterns in patients with newly diagnosed nonvalvular atrial fibrillation at risk of stroke. Phase 2 began when dabigatran, the first non\u2013vitamin K antagonist oral anticoagulant (NOAC), became available. Objectives This study sought to describe phase 2 baseline data and compare these with the pre-NOAC era collected during phase 1. Methods During phase 2, 15,641 consenting patients were enrolled (November 2011 to December 2014); 15,092 were eligible. This pre-specified cross-sectional analysis describes eligible patients\u2019 baseline characteristics. Atrial fibrillation disease characteristics, medical outcomes, and concomitant diseases and medications were collected. Data were analyzed using descriptive statistics. Results Of the total patients, 45.5% were female; median age was 71 (interquartile range: 64, 78) years. Patients were from Europe (47.1%), North America (22.5%), Asia (20.3%), Latin America (6.0%), and the Middle East/Africa (4.0%). Most had high stroke risk (CHA2DS2-VASc [Congestive heart failure, Hypertension, Age  6575 years, Diabetes mellitus, previous Stroke, Vascular disease, Age 65 to 74 years, Sex category] score  652; 86.1%); 13.9% had moderate risk (CHA2DS2-VASc = 1). Overall, 79.9% received oral anticoagulants, of whom 47.6% received NOAC and 32.3% vitamin K antagonists (VKA); 12.1% received antiplatelet agents; 7.8% received no antithrombotic treatment. For comparison, the proportion of phase 1 patients (of N = 1,063 all eligible) prescribed VKA was 32.8%, acetylsalicylic acid 41.7%, and no therapy 20.2%. In Europe in phase 2, treatment with NOAC was more common than VKA (52.3% and 37.8%, respectively); 6.0% of patients received antiplatelet treatment; and 3.8% received no antithrombotic treatment. In North America, 52.1%, 26.2%, and 14.0% of patients received NOAC, VKA, and antiplatelet drugs, respectively; 7.5% received no antithrombotic treatment. NOAC use was less common in Asia (27.7%), where 27.5% of patients received VKA, 25.0% antiplatelet drugs, and 19.8% no antithrombotic treatment. Conclusions The baseline data from GLORIA-AF phase 2 demonstrate that in newly diagnosed nonvalvular atrial fibrillation patients, NOAC have been highly adopted into practice, becoming more frequently prescribed than VKA in Europe and North America. Worldwide, however, a large proportion of patients remain undertreated, particularly in Asia and North America. (Global Registry on Long-Term Oral Antithrombotic Treatment in Patients With Atrial Fibrillation [GLORIA-AF]; NCT01468701

Variables psicológicas implicadas en la actitud e iniciativa emprendedora (II): personalidad, cognición y emoción

El proyecto titulado: Variables implicadas en la actitud e iniciativa emprendedora (II): personalidad, cognición y emoción, es la continuidad de otro presentado en la convocatoria anterior (2016-2017) cuyo objetivo era evaluar variables psicológicas en la actitud emprendedora de los estudiantes universitarios de la Universidad Complutense de Madrid (UCM). Este segundo proyecto ha tenido por objetivo principal ampliar la evaluación a otras facultades y áreas de conocimiento de nuestra universidad a fin de obtener el mapa y perfil de la iniciativa emprendedora del universitario UCM

Who was Foy de la Neuville ?

Isabel de Madariaga, Who was Foy de la Neuville ? This article attempts to establish the identity of the author of the Relation curieuse de la Moscovie, which was published under the name of Foy de la Neuville. The identification with Adrien Baillet is rejected, and La Neuville is placed firmly in the Polish court. His presence as Polish envoy in England and France is substantiated, and it is suggested that he also acted as a Polish agent on his visit to Russia in 1689. His sources of information about events in Russia are briefly discussed and some doubts are raised about his description of the views of Prince V.V. Golitsyn, since the only language the two men could converse in was Latin.Isabel de Madariaga, Qui était Foy de la Neuville ? Cet article tente de découvrir l'identité de l'auteur de la Relation curieuse de la Moscovie, publiée sous le nom de Foy de la Neuville. Son identification avec Adrien Baillet est rejetée. La Neuville est solidement en place à la Cour de Pologne. Sa présence en qualité d'envoyé de la Pologne en Angleterre et en France est attestée et on émet l'hypothèse qu'il a agi en sa qualité d'agent de la Pologne lors de sa visite en Russie, en 1689. Ses sources d'information sur les événements russes font l'objet d'une rapide discussion et on émet quelques doutes à propos de sa description des idées du prince V.V. Golicyn, étant donné que la seule langue dans laquelle ces deux hommes pouvaient s'entretenir était le latin !Madariaga Isabel de. Who was Foy de la Neuville ?. In: Cahiers du monde russe et soviétique, vol. 28, n°1, Janvier-mars 1987. pp. 21-30