Epidemiologia ambiental

Not available.No disponible.Não disponível

Postlaunch evidence-generation studies for medical devices in Spain: the RedETS approach to integrate real-world evidence into decision making

The Monitoring Studies (MS) program, the approach developed by RedETS to generate postlaunch real-world evidence (RWE), is intended to complement and enhance the conventional health technology assessment process to support health policy decision making in Spain, besides informing other interested stakeholders, including clinicians and patients. The MS program is focused on specific uncertainties about the real effect, safety, costs, and routine use of new and insufficiently assessed relevant medical devices carefully selected to ensure the value of the additional research needed, by means of structured, controlled, participative, and transparent procedures. However, despite a clear political commitment and economic support from national and regional health authorities, several difficulties were identified along the development and implementation of the first wave of MS, delaying its execution and final reporting. Resolution of these difficulties at the regional and national levels and a greater collaborative impulse in the European Union, given the availability of an appropriate methodological framework already provided by EUnetHTA, might provide a faster and more efficient comparative RWE of improved quality and reliability at the national and international levels

Epidemiología ambiental

Not available.Não disponível.No disponible

Haurdunaldian amak izandako bizi-ohiturak, ingurumen-esposizioak, osasun-sistemaren ekimenak eta haurraren garapen neuropsikologikoa: INMA (Haurtzaroa eta Ingurumena-Infancia y Medio Ambiente) proiektuan argitaratutako lanen errebisioa.

In the health field in general and in public health in particular, the environment has become important over the last two centuries. In 1974 Marc Lalonde developed a health model, remarking the role that lifestyles and the environment play on health. The main objective of this work is to highlight the most relevant results of the INMA project in relation to how these factors impact the neuropsychological development of children. Among others, maternal lifestyles, overweight and obesity and tobacco habits showed a negative association with child neurodevelopment. Considering maternal diet during pregnancy we observed that fish consumption could be both beneficial and harmful for children neurodevelopment. Regarding the health guidelines, our results showed that folic acid had beneficial effects in children´s neuropsychological development. Although extremely high doses of folic acid have been related to cognitive and psychomotor problems during childhood. Our study showed that breastfeeding is a protective factor against behavioral problems such as autism. Exposure to different particles that are in the environment had showed to have a negative effect in children neurodevelopment. The closeness to green spaces was related to an improvement of attention in children. This work concludes that mothers´ lifestyles and sanitary patterns women follow during pregnancy, as well as their environmental exposure could be related to the future neuropsychological development of their children.; Osasunaren esparruan oro har, eta zehazki Osasun Publikoarenean, azken bi mendeetan ingurumenak osasunean duen eragina aztertzeak interesa piztu du. Marc Lalondek, 1974. urtean osasun-eredua garatu zuen, eta azpimarratu zuen bizi-ohiturek eta inguruko faktoreek osasunean zuten eragina. Artikulu honen helburu orokorra da faktore hauek haurraren garapen neuropsikologikoan nola eragiten duten aztertzea helburutzat duten INMA proiektuko hainbat lanen emaitza esanguratsuenak azpimarratzea. Hala nola, emakumeen bizi-estiloekin erlazionatutako gainpisu/obesitateak eta erretze-ohiturak asoziazio negatiboa erakutsi zuten haurraren garapen neuropsikologikoarekin. Elikadura-ohiturei dagokienez, ikusi zen arraina osasunerako onuragarriak zein kaltegarriak diren substantzien garraio dela. Emakume haurdunek jarraitzen zituzten ekimenei dagokienez, gure proiektuko emaitzek erakutsi zuten azido folikoaren dosi altuegi zein baxuegiek haurren garapen neuropsikologikoan eragin positiboak zituztela. Edoskitze naturalak autismoa bezalako jokabide-arazoentzat eragin babesgarria zuela erakutsi zuten gure ikerketek. Ingurumen faktoreek haurraren garapenean eta osasunean kalteak dakartzatela ikusi da. Berdeguneek duten eragina, ordea, onuragarria dela ikusi da. Lan honek haurdunaldian emakumeak jarraitzen dituen bizi-ohiturak eta osasun-sistemaren aholkuak zein emakumeak dituen ingurumen-esposizioak haurraren garapen neuropsikologikoan duen eragina erakutsi du

A global analysis of the reconstitution of PTEN function by translational readthrough of PTEN pathogenic premature termination codons

The PTEN tumor suppressor gene is mutated with high incidence in tumors and in thegermline of patients with cancer predisposition or with macrocephaly associatedwith autism.PTENnonsense mutations generating premature termination codons (PTC)and producing nonfunctional truncated PTEN proteins are frequent in association withhuman disease. However, there are no studies addressing the restoration of full‐lengthPTEN proteins from the PTC‐mutatedPTENgene by translational readthrough. Here,we have performed a global translational and functional readthrough analysis of thecomplete collection ofPTENPTC somatic or hereditary mutations found in tumors or inthegermlineofpatients(disease‐associated PTEN PTCome), and we set standards forthe analysis of the potential of readthrough functional reconstitution in disease‐relevant genes. Our analysis indicates that prevalent pathogenicPTENPTC mutationsare susceptible to PTEN functional restoration in response to readthrough‐inducingcompounds. Comprehensive readthrough analyses of disease‐associated PTComes willbe valuable tools for the implementation of readthrough‐based precision interventionsin specific groups of patientsNorwegian Research CouncilMinisterio de Economía y CompetitividadComunidad de Madrid and European Structural and Investment FundsDepto. de Microbiología y ParasitologíaFac. de FarmaciaTRUEpu