Molecular testing for fragile X: Analysis of 5062 tests from 1105 fragile X families - Performed in 12 clinical laboratories in Spain

This is an open access article distributed under the Creative Commons Attribution License.-- et al.Fragile X syndrome is the most common inherited form of intellectual disability. Here we report on a study based on a collaborative registry, involving 12 Spanish centres, of molecular diagnostic tests in 1105 fragile X families comprising 5062 individuals, of whom, 1655 carried a full mutation or were mosaic, three cases had deletions, 1840 had a premutation, and 102 had intermediate alleles. Two patients with the full mutation also had Klinefelter syndrome. We have used this registry to assess the risk of expansion from parents to children. From mothers with premutation, the overall rate of allele expansion to full mutation is 52.5%, and we found that this rate is higher for male than female offspring (63.6% versus 45.6%; P < 0.001). Furthermore, in mothers with intermediate alleles (45-54 repeats), there were 10 cases of expansion to a premutation allele, and for the smallest premutation alleles (55-59 repeats), there was a 6.4% risk of expansion to a full mutation, with 56 repeats being the smallest allele that expanded to a full mutation allele in a single meiosis. Hence, in our series the risk for alleles of < 59 repeats is somewhat higher than in other published series. These findings are important for genetic counselling. © 2014 María-Isabel Tejada et al.Thanks are due to the agreements between GIRMOGEN and the Real Patronato sobre Discapacidad of the Spain’s Ministry for Health, Social Services and Equality (Spain) to carry out this study.Peer Reviewe

Role of the transient receptor potential vanilloid 1 in inflammation and sepsis

The transient receptor potential vanilloid 1 (TRPV1) is a thermoreceptor that responds to noxious temperatures, as well as to chemical agonists, such as vanilloids and protons. In addition, its channel activity is notably potentiated by proinflammatory mediators released upon tissue damage. The TRPV1 contribution to sensory neuron sensitization by proalgesic agents has signaled this receptor as a prime target for analgesic and anti-inflammatory drug intervention. However, TRPV1 antagonists have notably failed in clinical and preclinical studies because of their unwanted side effects. Recent reports have unveiled previously unrecognized anti-inflammatory and protective functions of TRPV1 in several diseases. For instance, this channel has been suggested to play an anti-inflammatory role in sepsis. Therefore, the use of potent TRPV1 antagonists as a general strategy to treat inflammation must be cautiously considered, given the deleterious effects that may arise from inhibiting the population of channels that have a protective function. The use of TRPV1 antagonists may be limited to treating those pathologies where enhanced receptor activity contributes to the inflamed state. Alternatively, therapeutic paradigms, such as reduction of inflammatory-mediated increase of receptor expression in the cell surface, may be a better strategy to prevent abrogation of the TRPV1 subpopulation involved in anti-inflammatory and protective processes

The Helicase PIF1 Facilitates Resection over Sequences Prone to Forming G4 Structures

DNA breaks are complex lesions that can be repaired either by non-homologous end joining (NHEJ) or by homologous recombination (HR). The decision between these two routes of DNA repair is a key point of the DNA damage response (DDR) that is controlled by DNA resection. The core machinery catalyzing the resection process is well established. However, little is known about the additional requirements of DNA resection over DNA structures with high complexity. Here, we found evidence that the human helicase PIF1 has a role in DNA resection, specifically for defined DNA regions, such as those prone to form G-quadruplexes. Indeed, PIF1 is recruited to the site of DNA damage and physically interacts with proteins involved in DNA resection, and its depletion causes DNA damage sensitivity and a reduction of HR efficiency. Moreover, G4 stabilization by itself hampers DNA resection, a phenomenon suppressed by PIF1 overexpressio

A measurement scale to assess children's satisfaction with hospitalization in the Andalusian population

Background: Patient satisfaction is a principal indicator in the evaluation of the stay of pediatric patients in hospitals, since its consequences can emotionally interfere with health treatment. The aim of this study was to obtain a valid scale to assess children’s satisfaction with their time spent as a patient in an Andalusian hospital. Method: The Children’s Satisfaction with Hospitalization Questionnaire (CSHQ) was applied to 623 pediatric patients hospitalized in Andalusia. An exploratory factor analysis (EFA) showed one dimension underlying the children’s satisfaction with their hospitalization. After that, we developed a depuration analysis process to achieve a valid and unidimensional scale to assess children’s satisfaction. Results: The eleven-item one-dimension solution showed suitable consistency and goodness-of-fit indices. The final scale addresses hosting aspects as the main dimension of a minor’s satisfaction in Andalusian hospitals. Conclusion: A unidimensional scale has been determined for the assessment of children’s satisfaction with their stay in Andalusian hospitals based on hosting aspects. Nonetheless, other dimensions underlying the satisfaction of patients should also be considered

Personal, scholar and social adaptation and familiar satisfaction of a child and adolescent population affected by the Human Immunodeficiency Virus (HIV)

Antecedentes: Debido a la multitud de dificultades sociales y psicopatológicas presentes en la población infanto-juvenil con VIH, derivadas tanto de la enfermedad como del estigma asociado a ésta, se hace necesario conocer los posibles problemas de adaptación presentes en los menores afectados por el VIH de nuestra población. Método: Participaron 60 menores de entre 8 y 16 años divididos en dos grupos: un grupo muestral de 20 menores afectados por el VIH y atendidos en la unidad de infectología pediátrica del Hospital Universitario Virgen del Rocío y un grupo de comparación de 40 menores sanos pareados en sexo y edad con los participantes del grupo empírico (dos iguales sin VIH ni otras enfermedades crónicas por cada menor afectado por el VIH). Se solicitó el consentimiento informado a los padres y tutores de los menores de ambos grupos muestrales y posteriormente éstos cumplimentaron el Test Autoevaluativo Multifactorial de Adaptación Infantil (TAMAI). Resultados: Se observan diferencias significativas entre grupos para las escalas de inadaptación general, personal y escolar (p < 0,01) y las escalas de insatisfacción con el ambiente familiar, insatisfacción con los hermanos y educación adecuada de la madre (p < 0,05). Si bien las puntuaciones medias no alcanzan en ningún caso valores clínicos, se observan puntuaciones mayores en todas las variables de inadaptación e insatisfacción para el grupo muestral con VIH (exceptuando la variable de insatisfacción con los hermanos), e inferiores en las escalas de educación adecuada del padre y de la madre. Conclusiones: Si bien no se perciben grandes dificultades clínicas a nivel de adaptación e insatisfacción familiar, los menores con VIH presentan puntuaciones más cercanas al rango clínico que sus iguales sanos. Es por ello que puede considerarse esta población como un grupo de riesgo para los problemas de inadaptación, debiendo evaluarse en profundidad estas cuestiones en futuros estudios.Background: Due to the all of social and psychopathological difficulties present in children and adolescents with HIV because of both the disease and the stigma associated with this population, it is necessary to know the possible adjustment problems in the minors affected by HIV in our population. Methods: A total of 60 children from 8 to 16 years old divided into two groups: a sample group of 20 children and adolescents affected by HIV and a comparison group of 40 healthy children matched for age and gender with the participants of the empirical group (two healthy children for each child affected by HIV). Parents or caregivers and children or adolescents of both sample groups signed the informed consented and after that, they completed the self reported multifactor test of adaptation (Test Autoevaluativo Multifactorial de Adaptación Infantil, TAMAI). Results: There were significant differences between groups in the scales of general maladjustment, personal and school (p < .01) and in the scales of dissatisfaction with family, dissatisfaction with brothers and sisters and proper education of the mother (p < .05). Conclusions: Although there were not perceived clinical difficulties in adaptation and family dissatisfaction, the minors with HIV have scores closest to the clinical range than their healthy peers. That is why this population can be considered as a risk group for the problems of maladjustment. These issues should be researched in future studies

Determination of o2 using colour sensing from image processing with mobile devices

This paper presents a portable instrument designed and characterized for the determination of gaseous oxygen. It is based on quenching the luminescence intensity of the platinum octaethylporphyrin complex when it is excited, using a light-emitting diode (LED) with an emission peak at 380 nm. The luminescence emitted by the platinum complex is detected by taking an image with a colour CCD micro-camera integrated in the prototype which makes it possible to do a two-dimensional analysis of the luminescence. This image is processed by a microcontroller to obtain the red colour component of the RGB colour space, thus discarding any unnecessary colour information. The processing is carried out for the pixels over a large area of the sensing membrane, which allows for a statistical treatment of the obtained data. The measured R-value for the membrane can be directly related to the concentration of the surrounding oxygen. The resulting instrument has been fully characterized and calibrated, including drifts due to temperature and time. In addition, an application for Android camera devices such as smartphones was developed in order to use them as detectors and image processors to provide a prediction of the gaseous oxygen concentration.Ministerio de Ciencia e Innovación, Dirección General de Investigación y Gestión del Plan Nacional de I+D+i (Spain) (Projects CTQ2009-14428-C02-01 and CTQ2009-14428-C02-02)Junta de Andalucía (Proyectos de Excelencia P08-FQM- 3535 and P10-TIC-5997)European Regional Development Funds (ERDF

Encuestas de Evaluación docente en Grados y Másteres: realización y propuestas de mejora de participación

Durante el curso 2016/17 se han realizado encuestas sobre todas las asignaturas y títulos impartidos en la Facultad, tanto de los Estudios de Grado como de Máster, dando continuidad a la evaluación de la calidad docente que se inició en el curso 2010/11. Estas encuestas abarcan a todos los niveles y tipos de asignaturas (prácticas, teóricas, prácticas externas) y a todo el profesorado. El cuestionario incluye además preguntas sobre los Servicios Generales (biblioteca, secretarías, aulas generales y específicas, laboratorios, cafetería, comedor, reprografía y librería), Servicios informáticos (campus virtual, web de la Facultad y redes sociales) y empleabilidad. Los resultados se ofrecen en abierto en la página web de la Facultad, con un resumen de lo más destacado de Grados y de Másteres en los Proyectos de Innovación y Mejora de la Calidad de la Docencia (https://geografiaehistoria.ucm.es/pimcd) y más detallados en los informes de cada Grado

Rationale and design of the SI! Program for health promotion in elementary students aged 6 to 11 years: A cluster randomized trial

Unhealthy habits in children are increasing at an alarming rate. The school provides a promising setting for effective preventive strategies to improve children's lifestyle behaviors. The SI! Program is a multilevel multicomponent school-based educational intervention aimed at all stages of compulsory education in Spain. Here, we present the design of the SI! Program for Elementary School cluster-randomized controlled trial, targeting children aged 6 to 11 years. This trial aims to study the impact of different timings and intensities of exposure to SI! Program activities on elementary school children and their immediate environment (parents/caregivers, teachers, and school). The trial includes 1770 children from 48 public elementary schools in Madrid (Spain), together with their parents and teachers. Schools and their children were randomly assigned to the intervention group (the SI! curriculum-based educational program over 3 or 6 academic years) or to the control group (standard curriculum). The primary outcomes are the change from baseline at 3-year and 6-year follow-up in children's scores for knowledge, attitudes, and habits (KAH) and health factors (blood pressure, height, weight, waist circumference, and skinfold thickness). Secondary outcomes include 3-year and 6-year changes from baseline in lifestyle questionnaire scores for parents/caregivers and teachers, and in the school environment questionnaire. The overarching goal of the SI! Program is to provide an effective and sustainable health promotion program for the adoption of healthy behaviors in children. The present trial will address the impact and the optimal timing and duration of this educational intervention in the elementary school setting. (Am Heart J 2019;210:9-17.)This study is partly funded by the Daniel & Nina Carasso Foundation and the la Caixa Foundation (LCF/PR/CE16/ 10700001). This study forms part of a project that has received funding from the European Union Horizon 2020 research and innovation programme under Marie Skłodowska- Curie grant agreement No. 707642 and from the American Heart Association under grant No. 14SFRN2049031

Marketing bibliotecario : 10 campañas exitosas de la Biblioteca Universitaria de Huelva en los medios sociales

Los medios sociales ofrecen una oportunidad inmejorable para el marketing digital, y la Biblioteca Universitaria de Huelva, consciente de ello, los utiliza para realizar diferentes campañas. En este trabajo se aportan como muestra diez actividades de marketing dirigidas a difundir la colección, a acercar los servicios a los usuarios, a promocionar la investigación de la Universidad de Huelva, a reafirmar el compromiso de la Biblioteca con la sociedad y a promocionar la imagen de marca. La evaluación de estas campañas evidencian la utilidad de las mismas, así como la necesidad de que se planifiquen considerando todos los elementos necesarios: objetivo, destinatarios, recursos, estrategias y medición.Social networks offer an unbeatable opportunity for digital marketing. The University of Huelva Library is aware of this fact and it uses the social networks in different campaigns. In this papaer we give ten examples of marketing activities addressed to spread the collection, to bring the services closer to the users, to promote research at the University of Hueva, and to reinforce the commitment of the Library with the society and to promote the brand. The evaluation of these campaigns show how useful they are, and the necessity of an organization of the different elements involved: goal, audience, resources, strategies, and evaluation

Smart facemask for wireless CO2 monitoring

This study was funded by Spanish MCIN/AEI/10.13039/501100011033/ (Projects PID2019-103938RB-I00 and ECQ2018-004937-P) and Junta de Andalucía (Projects B-FQM-243-UGR18, P18-RT-2961 and postdoctoral grant of PE DOC_00520). The projects were partially supported by European Regional Development Funds (ERDF).Source codes for microcontroller firmware (developed with MPLAB X IDE v5.45) and AndroidTM smartphone application (SmartMask v1.0) are available at an open-access repository (URI: http://hdl.handle.net/10481/71668) under a Creative Commons license.The use of facemasks by the general population is recommended worldwide to prevent the spread of SARS-CoV-2. Despite the evidence in favour of facemasks to reduce community transmission, there is also agreement on the potential adverse effects of their prolonged usage, mainly caused by CO2 rebreathing. Herein we report the development of a sensing platform for gaseous CO2 real-time determination inside FFP2 facemasks. The system con- sists of an opto-chemical sensor combined with a flexible, battery-less, near-field-enabled tag with resolution and limit of detection of 103 and 140 ppm respectively, and sensor lifetime of 8 h, which is comparable with recommended FFP2 facemask usage times. We include a custom smartphone application for wireless powering, data processing, alert management, results displaying and sharing. Through performance tests during daily activity and exercise monitoring, we demonstrate its utility for non-invasive, wearable health assessment and its potential applicability for preclinical research and diagnostics.B-FQM-243-UGR18 Consejeria de Economia, Innovacion, Ciencia y Empleo, Junta de Andalucia (Ministry of Economy, Innovation, Science and Employment, Government of Andalucia)P18-RT-2961 Consejeria de Economia, Innovacion, Ciencia y Empleo, Junta de Andalucia (Ministry of Economy, Innovation, Science and Employment, Government of Andalucia)DOC_00520 Consejeria de Economia, Innovacion, Ciencia y Empleo, Junta de Andalucia (Ministry of Economy, Innovation, Science and Employment, Government of Andalucia