106 research outputs found

    Relaciones entre el autoconcepto y el perfil psicológico deportivo en triatletas

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    El propósito de este trabajo fue examinar las relaciones entreel autoconcepto multidimensional y el perfil psicológico en un grupo detriatletas. Participaron en el estudio 88 triatletas con edades entre 20 y 55años (M= 36.06; DT= 7.75). Se utilizó el Cuestionario Autoconcepto Forma5 (AF5) para evaluar el autoconcepto y el Inventario Psicológico deEjecución Deportiva (IPED) para analizar el perfil psicológico. Los análisisde correlación efectuados pusieron de manifiesto relaciones significativasentre los constructos estudiados, siendo el autoconcepto emocional el quetuvo una mayor correlación con los diferentes factores del perfil psicológico.Además, la autoconfianza, el control de afrontamiento negativo y el controlactitudinal fueron las dimensiones del IPED que obtuvieron un mejor valorde predicción a partir de los diferentes factores del autoconcepto. Losresultados hallados pusieron de manifiesto la importancia del autoconceptoen la configuración de las diversas habilidades psicológicas implicadas en elrendimiento del deportista

    Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier

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    Med Clin (Barc). 2006 Jun 17;127(3):81-5. [Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier] [Article in Spanish] Ormazabal A, García Cazorla A, Pérez Dueñas B, Pineda M, Ruiz A, López Laso E, García Silva M, Carilho I, Barbot C, Cormand B, Ribases M, Moller L, Fernández Alvarez E, Campistol J, Artuch R. Hospital Sant Joan de Déu, Esplugues, Barcelona, España. Abstract BACKGROUND AND OBJECTIVE: In the last few years, it has been described inborn errors of neurotransmitter and pterin metabolism and defects in folate and glucose transport across blood brain barrier. All these defects are classified as rare diseases and needs cerebrospinal fluid (CSF) sample analysis for diagnosis. Our aim was to evaluate the results of the application of a CSF analysis protocol in a pediatric population from Spain and Portugal presenting with neurological disorders of unknown origin. PATIENTS AND METHOD: We studied CSF samples from and 283 patients with neurological disorders of unknown origin and 127 controls. Neurotransmitters were analysed by HPLC with electrochemical detection, and pterins and 5-methyltetrahydrofolate were determined by HPLC with fluorescence detection. RESULTS: We diagnosed 3 patients with tyrosine hidroxylase deficiency, 2 with dopa responsive dystonia, 14 with GTP-ciclohydrolase deficiency, 2 with glucose transport deficiency and 43 with cerebral folate deficiency. CONCLUSIONS: This study allowed us to diagnose new patients, and more importantly, the establishment in all of them of a pharmacological or nutritional treatment. The most frequent defect found was CSF 5-methyltetrahydrofolate deficiency, which was present in different groups of patients. PMID: 16827996 [PubMed - indexed for MEDLINE

    Remote sensing of lunar aureole with a sky camera: Adding information in the nocturnal retrieval of aerosol properties with GRASP code

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    The use of sky cameras for nocturnal aerosol characterization is discussed in this study. Two sky cameras are configured to take High Dynamic Range (HDR) images at Granada and Valladolid (Spain). Some properties of the cameras, like effective wavelengths, sky coordinates of each pixel and pixel sensitivity, are characterized. After that, normalized camera radiances at lunar almucantar points (up to 20° in azimuth from the Moon) are obtained at three effective wavelengths from the HDR images. These normalized radiances are compared in different case studies to simulations fed with AERONET aerosol information, giving satisfactory results. The obtained uncertainty of normalized camera radiances is around 10% at 533 nm and 608 nm and 14% for 469 nm. Normalized camera radiances and six spectral aerosol optical depth values (obtained from lunar photometry) are used as input in GRASP code (Generalized Retrieval of Aerosol and Surface Properties) to retrieve aerosol properties for a dust episode over Valladolid. The retrieved aerosol properties (refractive indices, fraction of spherical particles and size distribution parameters) are in agreement with the nearest diurnal AERONET products. The calculated GRASP retrieval at night time shows an increase in coarse mode concentration along the night, while fine mode properties remained constant.This work was supported by the Andalusia Regional Government (project P12-RNM-2409) and by the “Consejería de Educación, Junta de Castilla y León” (project VA100U14).Spanish Ministry of Economy and Competitiveness and FEDER funds under the projects CGL2013-45410-R, CMT2015-66742-R, CGL2016-81092-R.“Juan de la Cierva-Formación” program (FJCI-2014-22052).European Union's Horizon 2020 research and innovation programme through project ACTRIS-2 (grant agreement No 654109)

    Los factores ambientales, luz y temperatura, modifican la formación de la biopelícula en Pseudomonas syringae pv. syringae.

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    Comunicación a congreso en formato pósterLas biopelículas bacterianas están formadas por agregados celulares embebidos en una matriz extracelular de producción propia, formada principalmente por exopolisacáridos (EPS), proteínas y ADN extracelular. Existen datos recientes que sugieren que entre el 40-80% de las bacterias se encuentran formando biopelículas en la naturaleza, y que la formación de las biopelículas se ve afectada por factores ambientales. Pseudomonas syringae pv. syringae (Pss) es una bacteria fitopatógena causante de la necrosis apical del mango (NAM), enfermedad limitante de la producción de este cultivo en la región mediterránea. En Pss se ha descrito una conexión entre factores ambientales y la incidencia y severidad de la NAM, jugando los EPS celulosa y uno tipo-Psl, un papel relevante en la transición entre un estilo de vida epífito o patogénico. En este trabajo, se ha analizado el papel de algunos factores ambientales relevantes como son la luz y la temperatura en la formación de la biopelícula in vitro en una colección de cepas de Pss aisladas de mango. Los resultados obtenidos sugieren que la temperatura y particularmente la luz pueden influir en la formación de las biopelículas a través de la biosíntesis de los EPS, principalmente celulosa. Además, también se ha observado como niveles más bajos de producción de celulosa podrían estar asociados con una mayor virulencia. Estos resultados indican que los EPS, y principalmente celulosa juegan un papel clave en la ecología de Pss sobre la planta de mango a través de la formación de la biopelícula.Este trabajo ha sido financiado por Proyectos de Excelencia de la Junta de Andalucía (P12- AGR-1473), cofinanciado con ayudas a proyectos I+D+i en el marco del Programa Operativo FEDER Andalucía (UMA20-FEDERJA-060), y la Universidad de Málaga. Universidad de Málaga. Campus de Excelencia Internacional Andalucía Tech

    Safety and efficacy of a feed additive consisting of β-mannanase produced by Aspergillus niger CBS 120604 (Nutrixtend Optim) for use in all poultry for fattening (Kerry Ingredients & Flavours Ltd)

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    Following a request from the European Commission, the EFSA Panel on Additives and Products or Substances used in Animal Feed (FEEDAP) was asked to deliver a scientific opinion on the safety and efficacy of a product containing beta-mannanase produced by a non-genetically modified strain of Aspergillus niger (CBS 120604). The commercial name is Nutrixtend Optim and it is intended to be used as a zootechnical feed additive for all poultry for fattening. Based on a tolerance trial in chickens for fattening and the no observed adverse effect level identified in a subchronic oral toxicity study in rats, the additive was considered safe for all poultry for fattening. The Panel concluded that the use of the product as a feed additive does not give rise to concerns for consumers and the environment. The additive is considered an irritant to skin and eyes and a dermal sensitiser. Due to the proteinaceous nature of the active substance, it is also considered a respiratory sensitiser. The Panel concludes that the additive has the potential to be efficacious as a zootechnical additive at the level of inclusion in feed of chickens for fattening of 30 U beta-mannanase/kg complete feed. This conclusion was extrapolated to all poultry for fattening. (c) 2023 European Food Safety Authority. EFSA Journal published by Wiley-VCH GmbH on behalf of European Food Safety Authority

    Utilization study in real clinical practice of ceftolozane/tazobactam vs aminoglycosides and/or colistin in the treatment of multirresistant or extremely resistant Pseudomonas aeruginosa

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    Introduction. Comparative “real life” data on the effectiveness and safety of ceftolozane/tazobactam (C/T) versus other regimens (aminoglycosides/colistin/combination), in the treatment of multi-resistant (MDR) and extremely resistant (XDR) Pseudomonas aeruginosa (PA), are needed to establish positions. Material and methods. Observational, retrospective study of patients with microbiological confirmation of MDR and XDR PA from July 2016 up to December 2018 in a tertiary hospital. Variables: age, sex, comorbidities, risk factors for multidrug resistance, variables related to infection, source of infection, microorganism and type of sample, antibiotic treatment, clinical cure, microbiological cure, recurrence, mortality on admission and 30 days post-discharge. Patients were classified according to received antibiotic treatment, C/T or aminoglycosides/colistin/combination Results. A total of 405 patients with PA MDR and XDR infection (73.1% men, mean age 63 ± 15 years) were studied. An 87.1% of PA XDR and a 12.9% MDR were observed. All patients received C/T as targeted therapy and in the amino-glycosides/colistin/combination group were 73.5%. Patients in the C/T group present worse prognostic factors: septic shock (30.0%) and catheterization (90.0%) (p<0.05). There were not statistically significant differences in microbiological cure (p=0.412), recurrence (p=0.880) and clinical cure (p=0.566). There were not statistically significant differences in mortality at admission (p=0.352) or at 30 days after discharge (p=0.231). A 17.2% of the patients with aminoglycosides/colistin/combination had acute kidney injury according to RIFLE criteria and 4.3% with C/T. Conclusions. The data obtained suggest that there have been no differences in effectiveness (clinical or microbiological cure) in favour of C/T, although, in the period studied, it was used in most cases in multitreated patients with a worse prognosis. Randomized and prospective studies would be needed to establish an adequate positioning. © The Author 2021

    Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

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    Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep phenotyping approach and describes the clinical and biochemical presentation at disease onset as well as diagnostic approaches of 275 patients from the registry of the International Working Group on Neurotransmitter related Disorders. The results reveal an increased rate of prematurity, a high risk for being small for gestational age and for congenital microcephaly in some disorders. Age at diagnosis and the diagnostic delay are influenced by the diagnostic methods applied and by disease-specific symptoms. The timepoint of investigation was also a significant factor: delay to diagnosis has decreased in recent years, possibly due to novel diagnostic approaches or raised awareness. Although each disorder has a specific biochemical pattern, we observed confounding exceptions to the rule. The data provide comprehensive insights into the phenotypic spectrum of neurotransmitter disorders

    Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

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    Background and Objectives Genetic white matter disorders (GWMD) are of heterogeneous origin, with >100 causal genes identified to date. Classic targeted approaches achieve a molecular diagnosis in only half of all patients. We aimed to determine the clinical utility of singleton whole-exome sequencing and whole-genome sequencing (sWES-WGS) interpreted with a phenotype- and interactome-driven prioritization algorithm to diagnose GWMD while identifying novel phenotypes and candidate genes. Methods A case series of patients of all ages with undiagnosed GWMD despite extensive standard-of-care paraclinical studies were recruited between April 2017 and December 2019 in a collaborative study at the Bellvitge Biomedical Research Institute (IDIBELL) and neurology units of tertiary Spanish hospitals. We ran sWES and WGS and applied our interactome-prioritization algorithm based on the network expansion of a seed group of GWMD-related genes derived from the Human Phenotype Ontology terms of each patient. Results We evaluated 126 patients (101 children and 25 adults) with ages ranging from 1 month to 74 years. We obtained a first molecular diagnosis by singleton WES in 59% of cases, which increased to 68% after annual reanalysis, and reached 72% after WGS was performed in 16 of the remaining negative cases. We identified variants in 57 different genes among 91 diagnosed cases, with the most frequent being RNASEH2B, EIF2B5, POLR3A, and PLP1, and a dual diagnosis underlying complex phenotypes in 6 families, underscoring the importance of genomic analysis to solve these cases. We discovered 9 candidate genes causing novel diseases and propose additional putative novel candidate genes for yet-to-be discovered GWMD. Discussion Our strategy enables a high diagnostic yield and is a good alternative to trio WES/WGS for GWMD. It shortens the time to diagnosis compared to the classical targeted approach, thus optimizing appropriate management. Furthermore, the interactome-driven prioritization pipeline enables the discovery of novel disease-causing genes and phenotypes, and predicts novel putative candidate genes, shedding light on etiopathogenic mechanisms that are pivotal for myelin generation and maintenance

    Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: data from the iNTD registry

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    Inherited disorders of neurotransmitter metabolism are a group of rare diseases, which are caused by impaired synthesis, transport or degradation of neurotransmitters or co-factors and result in various degrees of delayed or impaired psychomotor development. To assess the effect of neurotransmitter deficiencies on intelligence, quality of life, and behavior, the data of 148 patients in the registry of the International Working Group on Neurotransmitter Related Disorders (iNTD) was evaluated using results from standardized age-adjusted tests and questionnaires. Patients with a primary disorder of monoamine metabolism had lower IQ scores (mean IQ 58, range 40-100) within the range of cognitive impairment (<70) compared to patients with a BH4 deficiency (mean IQ 84, range 40-129). Short attention span and distractibility were most frequently mentioned by parents, while patients reported most frequently anxiety and distractibility when asked for behavioral traits. In individuals with succinic semialdehyde dehydrogenase deficiency, self-stimulatory behaviors were commonly reported by parents, whereas in patients with dopamine transporter (DAT) deficiency, DNAJC12 deficiency, and monoamine oxidase A deficiency, self-injurious or mutilating behaviors have commonly been observed. Phobic fears were increased in patients with 6-pyruvoyltetrahydropterin synthase deficiency while individuals with sepiapterin reductase deficiency frequently experienced communication and sleep difficulties. Patients with BH4 deficiencies achieved significantly higher quality of life as compared to other groups. This analysis of the iNTD registry data highlights: a) difference in IQ and subdomains of quality of life between BH4 deficiencies and primary neurotransmitter-related disorders, and b) previously underreported behavioral traits

    Characterization of Tajogaite volcanic plumes detected over the Iberian Peninsula from a set of satellite and ground-based remote sensing instrumentation

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    Three volcanic plumes were detected during the Tajogaite volcano eruptive activity (Canary Islands, Spain, September–December 2021) over the Iberian Peninsula. The spatiotemporal evolution of these events is characterised by combining passive satellite remote sensing and ground-based lidar and sun-photometer systems. The inversion algorithm GRASP is used with a suite of ground-based remote sensing instruments such as lidar/ ceilometer and sun-photometer from eight sites at different locations throughout the Iberian Peninsula. Satellite observations showed that the volcanic ash plumes remained nearby the Canary Islands covering a mean area of 120 ± 202 km2 during the whole period of eruptive activity and that sulphur dioxide plumes reached the Iberian Peninsula
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