Search results for "diagnóstico"
showing 10 items of 198 documents
Transferability of PCR-based diagnostic protocols: An international collaborative case study assessing protocols targeting the quarantine pine pathog…
2019
Producción Científica
Case report : partial uniparental disomy unmasks a novel recessive mutation in the LYST gene in a patient with a severe phenotype of Chediak-Higashi …
2021
Síndrome de Chédiak-Higashi; LYST; Disomia uniparental Síndrome de Chédiak-Higashi; LYST; Disomía uniparental Chédiak-Higashi syndrome; LYST; Uniparental disomy Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonsense or indels mutations in the LYST gene. In this study, we describe for the first time the case of a CHS patient carrying a homozygous mutation in the LYST gene inherited as a result of a partial uniparental isodisomy (UPiD) of maternal origin. Sanger sequencing of the LYST cDNA and single nucleotide polymorphism (SNP)-arrays were performed to identify the causative mutation and to explain the molecul…
Genetic association study of childhood aggression across raters, instruments, and age
2021
AbstractChildhood aggressive behavior (AGG) has a substantial heritability of around 50%. Here we present a genome-wide association meta-analysis (GWAMA) of childhood AGG, in which all phenotype measures across childhood ages from multiple assessors were included. We analyzed phenotype assessments for a total of 328 935 observations from 87 485 children aged between 1.5 and 18 years, while accounting for sample overlap. We also meta-analyzed within subsets of the data, i.e., within rater, instrument and age. SNP-heritability for the overall meta-analysis (AGGoverall) was 3.31% (SE = 0.0038). We found no genome-wide significant SNPs for AGGoverall. The gene-based analysis returned three sign…
Use of next generation sequencing technologies for the diagnosis and epidemiology of infectious diseases
2020
[ES]: Por primera vez, la tecnología de secuenciación masiva permite acceder a la información genómica a un precio y a una escala tales, que se está implementado en la práctica clínica y epidemiológica rutinaria. Los obstáculos para dicha implementación son todavía muchos. Sin embargo, ya existen muchos ejemplos de las grandes ventajas que supone en comparación con métodos anteriores. Esto es, sobre todo, porque con una sola determinación podemos obtener simultáneamente información epidemiológica del microorganismo causante, así como de su perfil de resistencias, si bien estas ventajas están más o menos desarrolladas según el patógeno considerado. En esta revisión se repasan varios ejemplos…
Validation of Using Smartphone Built-In Accelerometers to Estimate the Active Energy Expenditures of Full-Time Manual Wheelchair Users with Spinal Co…
2021
[EN] This study aimed to investigate the validity of using built-in smartphone accelerometers to estimate the active energy expenditures of full-time manual wheelchair users with spinal cord injury (SCI). Twenty participants with complete SCI completed 10 5-min daily activities that involved the upper limbs, during which their oxygen consumption and upper limb activity were registered using a portable gas analyzer and a smartphone (placed on the non-dominant arm), respectively. Time series of 1-min averaged oxygen consumption and 55 accelerometer variables (13 variables for each of the four axes and three additional variables for the correlations between axes) were used to estimate three mu…
Internet and People with Intellectual Disability: A Bibliometric Analysis
2020
The use of the Internet by people with intellectual disabilities is an area of study that has captured the interest of scientists in recent years. The studies have focused on analyzing specific aspects such as usability, the activities carried out online, and Internet benefits and risks, among others. The reviews published on this matter have been of a narrative or systematic approach. The present study aimed to examine the academic output in the field of Internet and people with intellectual disability from a bibliometric perspective. A sample of 95 documents related to the topic was retrieved from the core collection of Web of Science (WoS) and analyzed using the bibliometrix R-Tool. Find…
Impact of COVID-19 on the self-reported physical activity of people with complete thoracic spinal cord injury full-time manual wheelchair users
2021
Coronavirus SARS-CoV-2; COVID-19; 2019-nCoV; Activitat física; Lesió medul·lar Coronavirus SARS-CoV-2; COVID-19; 2019-nCoV; Actividad física; Lesión de la médula espinal Coronavirus SARS-CoV-2; COVID-19; 2019-nCoV; Physical activity; Spinal cord injury Context The emergence of COVID-19 caused a new public health crisis, leading to major changes in daily life routines, often including physical activity (PA) levels. The main goal of this study was to analyze the differences in self-reported physical activity of people with complete spinal cord injuries between the time prior to the COVID-19 lockdown and the lockdown period itself. Methods A sample of 20 participants with complete thoracic spi…
The cross-cultural and transdiagnostic nature of unwanted mental intrusions
2019
Unwanted mental intrusions (UMIs), typically discussed in relation to Obsessive-Compulsive Disorder (OCD), are highly prevalent, regardless of the specific nationality, religion, and/or cultural context. Studies have also shown that UMIs related to Body Dysmorphic Disorder (BDD), Illness anxiety/Hypochondriasis (IA-H), and Eating Disorders (EDs) are commonly experienced. However, the influence of culture on these UMIs and their transdiagnostic nature has not been investigated.Participants were 1,473 non-clinical individuals from seven countries in Europe, the Middle-East, and South America. All the subjects completed the Questionnaire of Unpleasant Intrusive Thoughts, which assesses the occ…
Functional links of obsessive, dysmorphic, hypochondriac, and eating-disorders related mental intrusions.
2017
Unwanted mental intrusions (UMIs) are the normal variants of obsessions in Obsessive-Compulsive Disorder (OCD), preoccupations about defects in Body Dysmorphic Disorder (BDD), images about illness in Hypochondriasis (HYP), and thoughts about eating in Eating Disorders (EDs). The aim was to examine the similarities and differences in the functional links of four UMI contents, adopting a within-subject perspective.Las intrusiones mentales no deseadas (IM) son la variante normativa de obsesiones en el Trastorno Obsesivo-Compulsivo (TOC), preocupaciones por defectos en el Trastorno Dismórfico Corporal (TDC), imágenes sobre enfermedad en Hipocondría (TH) y pensamientos sobre alimentación en los …
Diseño y validación de un instrumento para evaluar la competencia "Aprender a aprender" en profesionales de la educación
2015
Desde la década de los años 90, la educación gira hacia el modelo orientado al desarrollo de competencias. Diversas aportaciones de gran calado (Delors, 1996; Eurydice, 2002; OCDE , 2005; Proyecto Tuning, 2007) se han ido constituyendo en referencias conceptuales para el diseño, desarrollo y organización de la Enseñanza y de la Educación. En este marco, el Espacio Europeo de Educación Superior ha incorporado esta orientación pedagógica, señalando la necesidad de abordar el desarrollo en las titulaciones universitarias de competencias generales y específicas. Se destaca como denominador común el hecho de que todas ellas implican preparar a la persona para aprender a aprender. El hecho de rec…