Manifestaciones lingüísticas en personas mayores: el papel de la intervención logopédica en el envejecimiento sano y patológico

En los últimos años ha cobrado especial relevancia incrementar los conocimientos acerca de las capacidades lingüístico-comunicativas de la población con una edad superior a 65 años. Los cambios biológicos, psicológicos y sociales que se producen en este grupo de personas deben ser atendidos teniendo en cuenta la interacción entre los dominios cognitivos y lingüísticos. El objetivo de este trabajo es realizar una revisión bibliográfica de las manifestaciones lingüísticas en personas mayores, tanto en el envejecimiento sano como patológico. Los resultados obtenidos indican que, en general, los rasgos más sobresalientes se manifiestan principalmente en la dificultad de acceso a la etiqueta léxica de las palabras, el enlentecimiento del habla y la dificultad para mantener el tema del discurso. La labor de la intervención logopédica especializada es crucial como tratamiento eficaz en el control de estos síntomas lingüísticos. Se defiende la necesidad de realizar una intervención logopédica acorde a las características y necesidades de la población objeto de estudio tomando como referencia la función metalingüística del lenguaje.It has recently become particularly important to gain more knowledge about the linguistic and communicative abilities of the population who are over 65 years of age. The biological, psychological and social changes that this group of people suffers should be addressed taking into account the interaction between the cognitive and linguistic domains. With this in mind, the objective of this paper is to provide a literature review of linguistic manifestations, covering both common and pathological aging. Results show that the most outstanding features are mainly related to the difficulty of accessing the lexical label of words, the slowness of speech and the difficulty in maintaining the topic of the speech. Specialized-speech and language-therapy intervention (logopedic) is crucial to control and address these linguistic symptoms. It is for this reason that the need for speech and language-therapy intervention is highlighted. This intervention should be done by focusing on the specific characteristics and needs of aged people, taking as a point of departure the metalinguistic function of language

A recurrent nonsense mutation occurring as a de novo event in a patient with recessive dystrophic epidermolysis bullosa

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A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families

<p>Abstract</p> <p>Background</p> <p>Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a genodermatosis caused by more than 500 different mutations in the <it>COL7A1 </it>gene and characterized by blistering of the skin following a minimal friction or mechanical trauma.</p> <p>The identification of a cluster of RDEB pedigrees carrying the c.6527insC mutation in a specific area raises the question of the origin of this mutation from a common ancestor or as a result of a hotspot mutation. The aim of this study was to investigate the origin of the c.6527insC mutation.</p> <p>Methods</p> <p>Haplotypes were constructed by genotyping nine single nucleotides polymorphisms (SNPs) throughout the <it>COL7A1 </it>gene. Haplotypes were determined in RDEB patients and control samples, both of Spanish origin.</p> <p>Results</p> <p>Sixteen different haplotypes were identified in our study. A single haplotype cosegregated with the c.6527insC mutation.</p> <p>Conclusion</p> <p>Haplotype analysis showed that all alleles carrying the c.6527insC mutation shared the same haplotype cosegregating with this mutation (<b><it>CCGCTCAAA_6527insC</it></b>), thus suggesting the presence of a common ancestor.</p

Atlas electrónico de registros retinográficos y tomográficos: cribado, derivación, diagnóstico diferencial y seguimiento de afecciones retinianas. Parte V: Distrofias retinianas

El objetivo de este proyecto es continuar con el Atlas retinográfico iniciado en las convocatorias anteriores con imágenes obtenidas con los principales y novedosos instrumentos utilizados en la actualidad para el diagnóstico de patologías retinianas. El Atlas presenta, además de las imágenes, una detallada descripción de los criterios cribado. Esta quinta parte se centra en el diagnóstico por imagen de distrofias retinianas, que son un grupo heterogéneo de enfermedades hereditarias de la retina, por lo general bilaterales y progresivas, que conducen a la pérdida de visión funcional hasta la ceguera. El Atlas está constituido por una extensa relación de retinografías (fotografías del fondo de ojo–retina) y tomografías de coherencia óptica (imágenes de cortes histológicos de la retina en vivo), exponiendo casos reales de patologías comunes y poco comunes. Constituye una herramienta con triple función: por un lado, será un elemento didáctico para el aprendizaje de patologías retinianas y el método de diagnóstico por imagen; en segundo lugar, puede utilizarse para realizar autoevaluaciones y, en tercer lugar, constituye una completa base de datos de casos clínicos. En definitiva, se trata de una herramienta muy económica y de gran utilidad para un amplio grupo de profesionales sanitarios expertos y especialistas en sistema visual

Role of age and comorbidities in mortality of patients with infective endocarditis

[Purpose]: The aim of this study was to analyse the characteristics of patients with IE in three groups of age and to assess the ability of age and the Charlson Comorbidity Index (CCI) to predict mortality. [Methods]: Prospective cohort study of all patients with IE included in the GAMES Spanish database between 2008 and 2015.Patients were stratified into three age groups:<65 years,65 to 80 years,and ≥ 80 years.The area under the receiver-operating characteristic (AUROC) curve was calculated to quantify the diagnostic accuracy of the CCI to predict mortality risk. [Results]: A total of 3120 patients with IE (1327 < 65 years;1291 65-80 years;502 ≥ 80 years) were enrolled.Fever and heart failure were the most common presentations of IE, with no differences among age groups.Patients ≥80 years who underwent surgery were significantly lower compared with other age groups (14.3%,65 years; 20.5%,65-79 years; 31.3%,≥80 years). In-hospital mortality was lower in the <65-year group (20.3%,<65 years;30.1%,65-79 years;34.7%,≥80 years;p < 0.001) as well as 1-year mortality (3.2%, <65 years; 5.5%, 65-80 years;7.6%,≥80 years; p = 0.003).Independent predictors of mortality were age ≥ 80 years (hazard ratio [HR]:2.78;95% confidence interval [CI]:2.32–3.34), CCI ≥ 3 (HR:1.62; 95% CI:1.39–1.88),and non-performed surgery (HR:1.64;95% CI:11.16–1.58).When the three age groups were compared,the AUROC curve for CCI was significantly larger for patients aged <65 years(p < 0.001) for both in-hospital and 1-year mortality. [Conclusion]: There were no differences in the clinical presentation of IE between the groups. Age ≥ 80 years, high comorbidity (measured by CCI),and non-performance of surgery were independent predictors of mortality in patients with IE.CCI could help to identify those patients with IE and surgical indication who present a lower risk of in-hospital and 1-year mortality after surgery, especially in the <65-year group

Spatiotemporal Characteristics of the Largest HIV-1 CRF02_AG Outbreak in Spain: Evidence for Onward Transmissions

Background and Aim: The circulating recombinant form 02_AG (CRF02_AG) is the predominant clade among the human immunodeficiency virus type-1 (HIV-1) non-Bs with a prevalence of 5.97% (95% Confidence Interval-CI: 5.41–6.57%) across Spain. Our aim was to estimate the levels of regional clustering for CRF02_AG and the spatiotemporal characteristics of the largest CRF02_AG subepidemic in Spain.Methods: We studied 396 CRF02_AG sequences obtained from HIV-1 diagnosed patients during 2000–2014 from 10 autonomous communities of Spain. Phylogenetic analysis was performed on the 391 CRF02_AG sequences along with all globally sampled CRF02_AG sequences (N = 3,302) as references. Phylodynamic and phylogeographic analysis was performed to the largest CRF02_AG monophyletic cluster by a Bayesian method in BEAST v1.8.0 and by reconstructing ancestral states using the criterion of parsimony in Mesquite v3.4, respectively.Results: The HIV-1 CRF02_AG prevalence differed across Spanish autonomous communities we sampled from (p &lt; 0.001). Phylogenetic analysis revealed that 52.7% of the CRF02_AG sequences formed 56 monophyletic clusters, with a range of 2–79 sequences. The CRF02_AG regional dispersal differed across Spain (p = 0.003), as suggested by monophyletic clustering. For the largest monophyletic cluster (subepidemic) (N = 79), 49.4% of the clustered sequences originated from Madrid, while most sequences (51.9%) had been obtained from men having sex with men (MSM). Molecular clock analysis suggested that the origin (tMRCA) of the CRF02_AG subepidemic was in 2002 (median estimate; 95% Highest Posterior Density-HPD interval: 1999–2004). Additionally, we found significant clustering within the CRF02_AG subepidemic according to the ethnic origin.Conclusion: CRF02_AG has been introduced as a result of multiple introductions in Spain, following regional dispersal in several cases. We showed that CRF02_AG transmissions were mostly due to regional dispersal in Spain. The hot-spot for the largest CRF02_AG regional subepidemic in Spain was in Madrid associated with MSM transmission risk group. The existence of subepidemics suggest that several spillovers occurred from Madrid to other areas. CRF02_AG sequences from Hispanics were clustered in a separate subclade suggesting no linkage between the local and Hispanic subepidemics

Early mobilisation in critically ill COVID-19 patients: a subanalysis of the ESICM-initiated UNITE-COVID observational study

Background Early mobilisation (EM) is an intervention that may improve the outcome of critically ill patients. There is limited data on EM in COVID-19 patients and its use during the first pandemic wave. Methods This is a pre-planned subanalysis of the ESICM UNITE-COVID, an international multicenter observational study involving critically ill COVID-19 patients in the ICU between February 15th and May 15th, 2020. We analysed variables associated with the initiation of EM (within 72 h of ICU admission) and explored the impact of EM on mortality, ICU and hospital length of stay, as well as discharge location. Statistical analyses were done using (generalised) linear mixed-effect models and ANOVAs. Results Mobilisation data from 4190 patients from 280 ICUs in 45 countries were analysed. 1114 (26.6%) of these patients received mobilisation within 72 h after ICU admission; 3076 (73.4%) did not. In our analysis of factors associated with EM, mechanical ventilation at admission (OR 0.29; 95% CI 0.25, 0.35; p = 0.001), higher age (OR 0.99; 95% CI 0.98, 1.00; p ≤ 0.001), pre-existing asthma (OR 0.84; 95% CI 0.73, 0.98; p = 0.028), and pre-existing kidney disease (OR 0.84; 95% CI 0.71, 0.99; p = 0.036) were negatively associated with the initiation of EM. EM was associated with a higher chance of being discharged home (OR 1.31; 95% CI 1.08, 1.58; p = 0.007) but was not associated with length of stay in ICU (adj. difference 0.91 days; 95% CI − 0.47, 1.37, p = 0.34) and hospital (adj. difference 1.4 days; 95% CI − 0.62, 2.35, p = 0.24) or mortality (OR 0.88; 95% CI 0.7, 1.09, p = 0.24) when adjusted for covariates. Conclusions Our findings demonstrate that a quarter of COVID-19 patients received EM. There was no association found between EM in COVID-19 patients' ICU and hospital length of stay or mortality. However, EM in COVID-19 patients was associated with increased odds of being discharged home rather than to a care facility. Trial registration ClinicalTrials.gov: NCT04836065 (retrospectively registered April 8th 2021)

Epidermolisis bullosa distrófica en población española: efecto fundador y datación de la mutación "c.6527insC" en el gen "COL7A1"

Tesis inédita de la Universidad Complutense de Madrid, Facultad de Ciencias Biológicas, Departamento de Bioquímica y Biología Molecular, leída el 04/07/2013Sección Deptal. de Bioquímica y Biología Molecular (Biológicas)Fac. de Ciencias BiológicasTRUEunpu

Manifestaciones lingüísticas en personas mayores: el papel de la intervención logopédica en el envejecimiento sano y patológico

It has recently become particularly important to gain more knowledge about the linguistic and communicative abilities of the population who are over 65 years of age. The biological, psychological and social changes that this group of people suffers should be addressed taking into account the interaction between the cognitive and linguistic domains. With this in mind, the objective of this paper is to provide a literature review of linguistic manifestations, covering both common and pathological aging. Results show that the most outstanding features are mainly related to the difficulty of accessing the lexical label of words, the slowness of speech and the difficulty in maintaining the topic of the speech. Specialized-speech and language-therapy intervention (logopedic) is crucial to control and address these linguistic symptoms. It is for this reason that the need for speech and language-therapy intervention is highlighted. This intervention should be done by focusing on the specific characteristics and needs of aged people, taking as a point of departure the metalinguistic function of language.En los últimos años ha cobrado especial relevancia incrementar los conocimientos acerca de las capacidades lingüístico-comunicativas de la población con una edad superior a 65 años. Los cambios biológicos, psicológicos y sociales que se producen en este grupo de personas deben ser atendidos teniendo en cuenta la interacción entre los dominios cognitivos y lingüísticos. El objetivo de este trabajo es realizar una revisión bibliográfica de las manifestaciones lingüísticas en personas mayores, tanto en el envejecimiento sano como patológico. Los resultados obtenidos indican que, en general, los rasgos más sobresalientes se manifiestan principalmente en la dificultad de acceso a la etiqueta léxica de las palabras, el enlentecimiento del habla y la dificultad para mantener el tema del discurso. La labor de la intervención logopédica especializada es crucial como tratamiento eficaz en el control de estos síntomas lingüísticos. Se defiende la necesidad de realizar una intervención logopédica acorde a las características y necesidades de la población objeto de estudio tomando como referencia la función metalingüística del lenguaje

Padres y maestros

Resumen basado en el que aporta la revistaPresenta un breve recorrido por los aspectos más relevantes en relación con la información y preparación de los niños para situaciones difíciles de asimilar, ofreciendo algunas claves de intervención, tanto en la familia como en la escuela. Las cuestiones que analiza son, cual es la reacción normal o esperable en un niño ante un acontecimiento de muerte y destrucción, y qué no es normal o ha de llamarnos la atención; qué podemos hacer los adultos para ayudar a los niños; y cuál es la posición personal de adulto ante este tipo de circunstancias.GaliciaES