Conocimientos y actitudes de los médicos en dos áreas sanitarias sobre las voluntades vitales anticipadas

ObjetivosExplorar los conocimientos y actitudes de los médicos acerca de las voluntades anticipadas en dos áreas de Andalucía. Comparar los resultados de ambas áreas sanitarias. Comparar los resultados de los médicos de atención primaria y atención especializada.DiseñoEstudio descriptivo, transversal, mediante cuestionario autocumplimentado.EmplazamientoÁrea Sanitaria Norte de Málaga y Área Sanitaria Norte de Almería.ParticipantesMédicos de atención primara y especializada.Mediciones y resultados principalesConocimientos y actitudes acerca de las voluntades vitales anticipadas (testamentos vitales); 194 médicos respondieron al cuestionario (tasa de respuesta del 63,19%). Media de edad ± desviación típica, 42,54±80,85 años; el 65,5%, varones, y el 33,5%, mujeres. El 51,55%, médicos de atención primaria, y el 48,45%, de especializada.ConclusionesHay una actitud favorable hacia la utilidad de las voluntades anticipadas tanto para los familiares del paciente como para los profesionales sanitarios; también hacia su utilización y respeto. Desean manifestar su propia voluntad anticipada aunque no en un futuro cercano. El personal de atención primaria muestra una actitud más favorable hacia las voluntades anticipadas en algunos ítems que el personal de especializada.ObjectivesTo explore the knowledge and attitudes of physicians towards advance directives in two healthcare areas.To compare the outcomes of both areas.To compare the outcomes of primary healthcare and specialised healthcare.DesignA cross sectional, descriptive study by means of a self-administered questionnaire.SettingNorth-Málaga and North-Almería healthcare areas, Spain.ParticipantsPhysicians of primary and specialised healthcare.Measurements and main resultsKnowledge and attitudes towards advance directives. 194 (63.19%) questionnaires were filled out by the physicians from both healthcare districts. Mean age (standard deviation) 42.54 (80.85); 65.5% of participants were men and 33.5% were women; 51.55% from primary care and 48.45% from specialised healthcare.ConclusionsPolled physicians revealed a positive attitude towards the usefulness of advance directives for the patient's relatives and for healthcare professionals. They also show a positive attitude towards the use and respect of advance directives. They show a high predisposition to registry their advance directive, but a low predisposition to do so in a short term

Pasado, presente y futuro de la Educación Física en el colegio Salesianos Huesca. Un proceso compartido de reflexión de la práctica docente y planificación de un itinerario coordinado de aprendizajes

Para nuestro equipo de personas la primera y más alta intención de la acción educativa es promover la integración, la cohesión social, la participación y la calidad de vida de todos y todas, especialmente de los jóvenes y niños que se encuentran en diversas formas y por diversos motivos marginados de la sociedad. Para desarrollar al máximo el potencial de cada uno de los alumnos y alumnas y favorecer la adquisición de competencias que les permitan ser agentes de cambio para la justicia y equidad social, es clave aprovechar todas las sinergias, itinerarios y conocimientos que puedan compartirse entre la comunidad educativa para favorecer aprendizajes significativos con la máxima eficiencia. Así generar una cultura de escuela que aprende supone una estrategia fundamental en los procesos de innovación sistémica desarrollados en la escuela..

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies

Inherited syndromic retinopathies are a highly heterogeneous group of diseases that involve retinal anomalies and systemic manifestations. They include retinal ciliopathies, other well-defined clinical syndromes presenting with retinal alterations and cases of non-specific multisystemic diseases. The heterogeneity of these conditions makes molecular and clinical characterization of patients challenging in daily clinical practice. We explored the capacity of targeted resequencing and copy-number variation analysis to improve diagnosis of a heterogeneous cohort of 47 patients mainly comprising atypical cases that did not clearly fit a specific clinical diagnosis. Thirty-three likely pathogenic variants were identified in 18 genes (ABCC6, ALMS1, BBS1, BBS2, BBS12, CEP41, CEP290, IFT172, IFT27, MKKS, MYO7A, OTX2, PDZD7, PEX1, RPGRIP1, USH2A, VPS13B, and WDPCP). Molecular findings and additional clinical reassessments made it possible to accurately characterize 14 probands (30% of the total). Notably, clinical refinement of complex phenotypes was achieved in 4 cases, including 2 de novo OTX2-related syndromes, a novel phenotypic association for the ciliary CEP41 gene, and the co-existence of biallelic USH2A variants and a Koolen-de-Vries syndrome–related 17q21.31 microdeletion. We demonstrate that combining next-generation sequencing and CNV analysis is a comprehensive and useful approach to unravel the extensive phenotypic and genotypic complexity of inherited syndromic retinopathiesFEDER (Fondo Europeo de Desarrollo Regional) | Ref. PI016/00425Instituto de Salud Carlos III | Ref. PT13/0010/001

Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome

Bardet–Biedl syndrome (BBS) is an autosomal recessive ciliopathy characterized by extensive inter- and intra-familial variability, in which oligogenic interactions have been also reported. Our main goal is to elucidate the role of mutational load in the clinical variability of BBS. A cohort of 99 patients from 77 different families with biallelic pathogenic variants in a BBS-associated gene was retrospectively recruited. Human Phenotype Ontology terms were used in the annotation of clinical symptoms. The mutational load in 39 BBS-related genes was studied in index cases using different molecular and next-generation sequencing (NGS) approaches. Candidate allele combinations were analysed using the in silico tools ORVAL and DiGePred. After clinical annotation, 76 out of the 99 cases a priori fulfilled established criteria for diagnosis of BBS or BBS-like. BBS1 alleles, found in 42% of families, were the most represented in our cohort. An increased mutational load was excluded in 41% of the index cases (22/54). Oligogenic inheritance was suspected in 52% of the screened families (23/45), being 40 tested by means of NGS data and 5 only by traditional methods. Together, ORVAL and DiGePred platforms predicted an oligogenic effect in 44% of the triallelic families (10/23). Intrafamilial variable severity could be clinically confirmed in six of the families. Our findings show that the presence of more than two alleles in BBSassociated genes correlated in six families with a more severe phenotype and associated with specific findings, highlighting the role of the mutational load in the management of BBS casesInstituto de Salud Carlos III | Ref. PI15/00049Instituto de Salud Carlos III | Ref. PI16/00425Instituto de Salud Carlos III | Ref. PI19/00321Instituto de Salud Carlos III | Ref. PI19/00332CIBERER | Ref. 07/06/0036IIS-FJD BioBank | Ref. PT13/0010/0012Comunidad de Madrid | Ref. B2017/BMD-3721Xunta de Galicia | Ref. ED431G-2019/06Xunta de Galicia | Ref. ED431C-2018/54ISCIII | Ref. FI17/00192Ministerio de Educación, Cultura y Deporte | Ref. FPU 19/00175ISCIII | Ref. CP16/0011

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

ESRETNET Study Group, The ERDC Study Group, The Associated Clinical Study Group.Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landscape of IRD in the largest cohort of Spanish patients reported to date. A retrospective hospital-based cross-sectional study was carried out on 6089 IRD affected individuals (from 4403 unrelated families), referred for genetic testing from all the Spanish autonomous communities. Clinical, demographic and familiar data were collected from each patient, including family pedigree, age of appearance of visual symptoms, presence of any systemic findings and geographical origin. Genetic studies were performed to the 3951 families with available DNA using different molecular techniques. Overall, 53.2% (2100/3951) of the studied families were genetically characterized, and 1549 different likely causative variants in 142 genes were identified. The most common phenotype encountered is retinitis pigmentosa (RP) (55.6% of families, 2447/4403). The most recurrently mutated genes were PRPH2, ABCA4 and RS1 in autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) NON-RP cases, respectively; RHO, USH2A and RPGR in AD, AR and XL for non-syndromic RP; and USH2A and MYO7A in syndromic IRD. Pathogenic variants c.3386G > T (p.Arg1129Leu) in ABCA4 and c.2276G > T (p.Cys759Phe) in USH2A were the most frequent variants identified. Our study provides the general landscape for IRD in Spain, reporting the largest cohort ever presented. Our results have important implications for genetic diagnosis, counselling and new therapeutic strategies to both the Spanish population and other related populations.This work was supported by the Instituto de Salud Carlos III (ISCIII) of the Spanish Ministry of Health (FIS; PI16/00425 and PI19/00321), Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER, 06/07/0036), IIS-FJD BioBank (PT13/0010/0012), Comunidad de Madrid (CAM, RAREGenomics Project, B2017/BMD-3721), European Regional Development Fund (FEDER), the Organización Nacional de Ciegos Españoles (ONCE), Fundación Ramón Areces, Fundación Conchita Rábago and the University Chair UAM-IIS-FJD of Genomic Medicine. Irene Perea-Romero is supported by a PhD fellowship from the predoctoral Program from ISCIII (FI17/00192). Ionut F. Iancu is supported by a grant from the Comunidad de Madrid (CAM, PEJ-2017-AI/BMD7256). Marta del Pozo-Valero is supported by a PhD grant from the Fundación Conchita Rábago. Berta Almoguera is supported by a Juan Rodes program from ISCIII (JR17/00020). Pablo Minguez is supported by a Miguel Servet program from ISCIII (CP16/00116). Marta Corton is supported by a Miguel Servet program from ISCIII (CPII17/00006)

Analyzing factors that influence the folk use and phytonomy of 18 medicinal plants in Navarra

BACKGROUND: This article analyzes whether the distribution or area of use of 18 medicinal plants is influenced by ecological and cultural factors which might account for their traditional use and/or phytonymy in Navarra. This discussion may be helpful for comparative studies, touching as it does on other ethnopharmacological issues: a) which cultural and ecological factors affect the selection of medicinal plants; b) substitutions of medicinal plants in popular medicine; c) the relation between local nomenclature and uses. To analyze these questions, this paper presents an example of a species used for digestive disorders (tea and camomile: Jasonia glutinosa, J. tuberosa, Sideritis hyssopifolia, Bidens aurea, Chamaemelum nobile, Santolina chamaecyparissus...), high blood pressure (Rhamnus alaternus, Olea europaea...) or skin diseases (Hylotelephium maximum, H. telephium, Anagallis arvensis, A. foemina). METHODS: Fieldwork began on January 2004 and continued until December 2006. During that time we interviewed 505 informants in 218 locations in Navarra. Information was collected using semi-structured ethnobotanical interviews, and we subsequently made maps using Arc-View 8.0 program to determine the area of use of each taxon. Each map was then compared with the bioclimatic and linguistic map of Navarra, using the soil and ethnographic data for the region, and with other ethnobotanical and ethnopharmacological studies carried out in Europe. RESULTS: The results clearly show that ecological and cultural factors influence the selection of medicinal plants in this region. Climate and substrate are the most important ecological factors that influence the distribution and abundance of plants, which are the biological factors that affect medicinal plant selection. CONCLUSION: The study of edaphological and climatological factors, on the one hand, and culture, on the other, can help us to understand why a plant is replaced by another one for the same purposes, either in the same or in a different area. In many cases, the cultural factor means that the use of a species is more widespread than its ecological distribution. This may also explain the presence of synonyms and polysemies which are useful for discussing ethnopharmacological data

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landscape of IRD in the largest cohort of Spanish patients reported to date. A retrospective hospital-based cross-sectional study was carried out on 6089 IRD affected individuals (from 4403 unrelated families), referred for genetic testing from all the Spanish autonomous communities. Clinical, demographic and familiar data were collected from each patient, including family pedigree, age of appearance of visual symptoms, presence of any systemic findings and geographical origin. Genetic studies were performed to the 3951 families with available DNA using different molecular techniques. Overall, 53.2% (2100/3951) of the studied families were genetically characterized, and 1549 different likely causative variants in 142 genes were identified. The most common phenotype encountered is retinitis pigmentosa (RP) (55.6% of families, 2447/4403). The most recurrently mutated genes were PRPH2, ABCA4 and RS1 in autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) NON-RP cases, respectively; RHO, USH2A and RPGR in AD, AR and XL for non-syndromic RP; and USH2A and MYO7A in syndromic IRD. Pathogenic variants c.3386G > T (p.Arg1129Leu) in ABCA4 and c.2276G > T (p.Cys759Phe) in USH2A were the most frequent variants identified. Our study provides the general landscape for IRD in Spain, reporting the largest cohort ever presented. Our results have important implications for genetic diagnosis, counselling and new therapeutic strategies to both the Spanish population and other related populations.This work was supported by the Instituto de Salud Carlos III (ISCIII) of the Spanish Ministry of Health (FIS; PI16/00425 and PI19/00321), Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER, 06/07/0036), IIS-FJD BioBank (PT13/0010/0012), Comunidad de Madrid (CAM, RAREGenomics Project, B2017/BMD-3721), European Regional Development Fund (FEDER), the Organización Nacional de Ciegos Españoles (ONCE), Fundación Ramón Areces, Fundación Conchita Rábago and the University Chair UAM-IIS-FJD of Genomic Medicine. Irene Perea-Romero is supported by a PhD fellowship from the predoctoral Program from ISCIII (FI17/00192). Ionut F. Iancu is supported by a grant from the Comunidad de Madrid (CAM, PEJ-2017-AI/BMD7256). Marta del Pozo-Valero is supported by a PhD grant from the Fundación Conchita Rábago. Berta Almoguera is supported by a Juan Rodes program from ISCIII (JR17/00020). Pablo Minguez is supported by a Miguel Servet program from ISCIII (CP16/00116). Marta Corton is supported by a Miguel Servet program from ISCIII (CPII17/00006). The funders played no role in study design, data collection, data analysis, manuscript preparation and/or publication decisions

First comprehensive contribution to medical ethnobotany of Western Pyrenees

<p>Abstract</p> <p>Background</p> <p>An ethnobotanical and medical study was carried out in the Navarre Pyrenees, an area known both for its high biological diversity and its cultural significance.</p> <p>As well as the compilation of an ethnopharmacological catalogue, a quantitative ethnobotanical comparison has been carried out in relation to the outcomes from other studies about the Pyrenees. A review of all drugs used in the area has also been carried out, through a study of the monographs published by the institutions and organizations responsible for the safety and efficacy of medicinal plants (WHO, ESCOP, and the E Commission of the German Department of Health) in order to ascertain the extent to which the Navarre Pyrenees ethnopharmacology has been officially evaluated.</p> <p>Methods</p> <p>Fieldwork was carried out over two years, from November 2004 to December 2006. During that time we interviewed 88 local people in 40 villages. Information was collected using semi-structured ethnobotanical interviews and the data was analyzed using quantitave indexes: Ethnobotonicity Index, Shannon-Wiener's Diversity, Equitability and The Informant Consensus Factor. The official review has been performed using the official monographs published by the WHO, ESCOP and the E Commission of the German Department of Health.</p> <p>Results</p> <p>The ethnobotanical and medical catalogue of the Navarre Pyrenees Area comprises 92 species, of which 39 have been mentioned by at least three interviewees. The quantitative ethnobotany results show lower values than those found in other studies about the Pyrenees; and 57.6% of the Pyrenees medical ethnobotany described does not figure in documents published by the above mentioned institutions.</p> <p>Conclusion</p> <p>The results show a reduction in the ethnobotanical and medical knowledge in the area of study, when compared to other studies carried out in the Pyrenees. Nevertheless, the use of several species that may be regarded as possible sources for pharmacological studies is reported here such as the bark of <it>Sambucus nigra</it>, the roots of <it>Fragaria vesca</it>, or the leaves of <it>Scrophularia nodosa</it>. These species are not currently approved by the WHO, ESCOP and the E Commission of the German Department of Health, institutions that, apart from encouraging the greater use of plants for medicinal purposes, may help in the design of development plans for these rural areas by validating their traditional medicine.</p