La educación en pacientes con enfermedad de Parkinson

Trabajo Fin de Grado curso 2015-2016[ES]La enfermedad de Parkinson (EP), la segunda enfermedad neurodegenerativa más frecuente tras la enfermedad de Alzheimer, no solo produce síntomas motores sino también cognitivos. El objetivo de este trabajo es hacer una revisión sobre el papel de la educación sobre progreso del declive cognitivo y la demencia en personas con EP. Para ello, se utilizaron diferentes bases de datos (PSICODOC, PSICINFO y MEDLINE) y la información obtenida se organizó según año de publicación, idioma de publicación, autor(es), muestra, tipo de estudio, variables analizadas y resultados. La mayoría de estudios demostraban que las personas con un nivel educativo elevado tenían un mayor rendimiento neuropsicológico. No obstante, los resultados no son claros en relación al papel de la educación en el declive cognitivo, siendo contradictorias las conclusiones a las que llegan los diferentes investigadores. En relación a la demencia, parece que la educación no tenía efecto alguno en la evolución a demencia de las personas con EP. Tras la revisión realizada, se concluye que la educación tiene un efecto sobre el rendimiento neuropsicológico en las personas con enfermedad de Parkinson, mientras que su papel en el desarrollo del deterioro cognitivo es controvertido. En el futuro, se precisan estudios que indaguen sobre la relación educación y demencia en personas con EP, ya que actualmente son escasos

Eskola Kirola: gaur egungo ereduaren azterketa eta eraldatze proposamena

Lanean Eskola Kirolaren inguruko sakonketa bat egingo da. Horretarako, lehenengo gaur egun EAEn eta Gipuzkoan Eskola Kirolak bizi duen egoera aztertuko da; ondoren, azterketa honetan oinarrituz eraldaketara bidean erabaligarriak izan daitezkeen eta eskola kirolean eragin zuzena duten adierazle ezberdinak landuko dira; eta azkenik, lanketa honetan ateratako oinarri nagusiak praktikara eramateko saiakera bat egingo da, Itziarko Eskola Kirolean aplikazio praktiko bateranzko hurbilketa eginez

Eskola Kirola: gaur egungo ereduaren azterketa eta eraldatze proposamena

Lanean Eskola Kirolaren inguruko sakonketa bat egingo da. Horretarako, lehenengo gaur egun EAEn eta Gipuzkoan Eskola Kirolak bizi duen egoera aztertuko da; ondoren, azterketa honetan oinarrituz eraldaketara bidean erabaligarriak izan daitezkeen eta eskola kirolean eragin zuzena duten adierazle ezberdinak landuko dira; eta azkenik, lanketa honetan ateratako oinarri nagusiak praktikara eramateko saiakera bat egingo da, Itziarko Eskola Kirolean aplikazio praktiko bateranzko hurbilketa eginez

Semantic context and visual feature effects in object naming: an fMRI study using arterial spin labeling

Previous behavioral studies reported a robust effect of increased naming latencies when objects to be named were blocked within semantic category, compared to items blocked between category. This semantic context effect has been attributed to various mechanisms including inhibition or excitation of lexico-semantic representations and incremental learning of associations between semantic features and names, and is hypothesized to increase demands on verbal self-monitoring during speech production. Objects within categories also share many visual structural features, introducing a potential confound when interpreting the level at which the context effect might occur. Consistent with previous findings, we report a significant increase in response latencies when naming categorically related objects within blocks, an effect associated with increased perfusion fMRI signal bilaterally in the hippocampus and in the left middle to posterior superior temporal cortex. No perfusion changes were observed in the middle section of the left middle temporal cortex, a region associated with retrieval of lexical–semantic information in previous object naming studies. Although a manipulation of visual feature similarity did not influence naming latencies, we observed perfusion increases in the perirhinal cortex for naming objects with similar visual features that interacted with the semantic context in which objects were named. These results provide support for the view that the semantic context effect in object naming occurs due to an incremental learning mechanism, and involves increased demands on verbal self-monitoring

Independent distractor frequency and age-of-acquisition effects in picture-word interference: fMRI evidence for post-lexical and lexical accounts according to distractor type

In two fMRI experiments, participants named pictures with superimposed distractors that were high or low in frequency or varied in terms of age of acquisition. Pictures superimposed with low-frequency words were named more slowly than those superimposed with high-frequency words, and late-acquired words interfered with picture naming to a greater extent than early-acquired words. The distractor frequency effect (Experiment 1) was associated with increased activity in left premotor and posterior superior temporal cortices, consistent with the operation of an articulatory response buffer and verbal self-monitoring system. Conversely, the distractor age-of-acquisition effect (Experiment 2) was associated with increased activity in the left middle and posterior middle temporal cortex, consistent with the operation of lexical level processes such as lemma and phonological word form retrieval. The spatially dissociated patterns of activity across the two experiments indicate that distractor effects in picture–word interference may occur at lexical or postlexical levels of processing in speech production

L-Dopa modulates functional connectivity in striatal cognitive and motor networks: A double-blind placebo-controlled study

Functional connectivity (FC) analyses of resting-state fMRI data allow for the mapping of large-scale functional networks, and provide a novel means of examining the impact of dopaminergic challenge. Here, using a double-blind, placebo-controlled design, we examined the effect of L-dopa, a dopamine precursor, on striatal resting-state FC in 19 healthy young adults. We examined the FC of 6 striatal regions of interest (ROIs) previously shown to elicit networks known to be associated with motivational, cognitive and motor subdivisions of the caudate and putamen (Di Martino et al., 2008). In addition to replicating the previously demonstrated patterns of striatal FC, we observed robust effects of L-dopa. Specifically, L-dopa increased FC in motor pathways connecting the putamen ROIs with the cerebellum and brainstem. Although L-dopa also increased FC between the inferior ventral striatum and ventrolateral prefrontal cortex, it disrupted ventral striatal and dorsal caudate FC with the default mode network. These alterations in FC are consistent with studies that have demonstrated dopaminergic modulation of cognitive and motor striatal networks in healthy participants. Recent studies have demonstrated altered resting state FC in several conditions believed to be characterized by abnormal dopaminergic neurotransmission. Our findings suggest that the application of similar experimental pharmacological manipulations in such populations may further our understanding of the role of dopaminergic neurotransmission in those conditions

Heritability of working memory brain activation

Although key to understanding individual variation in task-related brain activation, the genetic contribution to these individual differences remains largely unknown. Here we report voxel-by-voxel genetic model fitting in a large sample of 319 healthy, young adult, human identical and fraternal twins (mean ± SD age, 23.6 ± 1.8 years) who performed an n-back working memory task during functional magnetic resonance imaging (fMRI) at a high magnetic field (4 tesla). Patterns of task-related brain response (BOLD signal difference of 2-back minus 0-back) were significantly heritable, with the highest estimates (40–65%) in the inferior, middle, and superior frontal gyri, left supplementary motor area, precentral and postcentral gyri, middle cingulate cortex, superior medial gyrus, angular gyrus, superior parietal lobule, including precuneus, and superior occipital gyri. Furthermore, high test-retest reliability for a subsample of 40 twins indicates that nongenetic variance in the fMRI brain response is largely due to unique environmental influences rather than measurement error. Individual variations in activation of the working memory network are therefore significantly influenced by genetic factors. By establishing the heritability of cognitive brain function in a large sample that affords good statistical power, and using voxel-by-voxel analyses, this study provides the necessary evidence for task-related brain activation to be considered as an endophenotype for psychiatric or neurological disorders, and represents a substantial new contribution to the field of neuroimaging genetics. These genetic brain maps should facilitate discovery of gene variants influencing cognitive brain function through genome-wide association studies, potentially opening up new avenues in the treatment of brain disorders

Improved collection of hematopoietic stem cells and progenitors from Fanconi anemia patients for gene therapy purposes

Anèmia de Fanconi; Mozobil; Teràpia gènicaAnemia de Fanconi; Mozobil; Terapia génicaFanconi anemia; Mozobil; Gene therapyDifficulties in the collection of hematopoietic stem and progenitor cells (HSPCs) from Fanconi anemia (FA) patients have limited the gene therapy in this disease. We have investigated (ClinicalTrials.gov, NCT02931071) the safety and efficacy of filgrastim and plerixafor for mobilization of HSPCs and collection by leukapheresis in FA patients. Nine of eleven enrolled patients mobilized beyond the threshold level of 5 CD34+ cells/μL required to initiate apheresis. A median of 21.8 CD34+ cells/μL was reached at the peak of mobilization. Significantly, the oldest patients (15 and 16 years old) were the only ones who did not reach that threshold. A median of 4.27 million CD34+ cells/kg was collected in 2 or 3 aphereses. These numbers were markedly decreased to 1.1 million CD34+ cells/kg after immunoselection, probably because of weak expression of the CD34 antigen. However, these numbers were sufficient to facilitate the engraftment of corrected HSPCs in non-conditioned patients. No procedure-associated serious adverse events were observed. Mobilization of CD34+ cells correlated with younger age, higher leukocyte counts and hemoglobin values, lower mean corpuscular volume, and higher proportion of CD34+ cells in bone marrow (BM). All these values offer crucial information for the enrollment of FA patients for gene therapy protocols.This work was supported by grants from the European Commission’s Seventh Framework Program (HEALTH-F5-2012-305421 to the EUROFANCOLEN Consortium, J.A.B., J. Sevilla, C.D.-d.-H., J. Soulier, and J. Surralles), Ministerio de Sanidad, Servicios Sociales e Igualdad (EC11/060 and EC11/550 to C.D.-d.-H., J. Sevilla, J.A.B., and J. Surralles), Ministerio de Economía, Comercio y Competitividad and Fondo Europeo de Desarrollo Regional (SAF2015-68073-R, RTI2018-097125-B-I00 to P.R. and RTI2018-098419-B-I00 to J. Surralles), Fondo de Investigaciones Sanitarias at the Instituto de Salud Carlos III (RD12/0019/0023 to J.C.S.), and Consejería de Educación, Juventud y Deporte de la Comunidad de Madrid (AvanCell Project; B2017/BMD3692). CIBERER is an initiative of the Instituto de Salud Carlos III and Fondo Europeo de Desarrollo Regional. J. Surralles is supported by ICREA Academia and FARF

Investigating brain connectivity heritability in a twin study using diffusion imaging data

Heritability of brain anatomical connectivity has been studied with diffusion-weighted imaging (DWI) mainly by modeling each voxel's diffusion pattern as a tensor (e.g., to compute fractional anisotropy), but this method cannot accurately represent the many crossing connections present in the brain. We hypothesized that different brain networks (i.e., their component fibers) might have different heritability and we investigated brain connectivity using High Angular Resolution Diffusion Imaging (HARDI) in a cohort of twins comprising 328 subjects that included 70 pairs of monozygotic and 91 pairs of dizygotic twins. Water diffusion was modeled in each voxel with a Fiber Orientation Distribution (FOD) function to study heritability for multiple fiber orientations in each voxel. Precision was estimated in a test-retest experiment on a sub-cohort of 39 subjects. This was taken into account when computing heritability of FOD peaks using an ACE model on the monozygotic and dizygotic twins. Our results confirmed the overall heritability of the major white matter tracts but also identified differences in heritability between connectivity networks. Inter-hemispheric connections tended to be more heritable than intra-hemispheric and cortico-spinal connections. The highly heritable tracts were found to connect particular cortical regions, such as medial frontal cortices, postcentral, paracentral gyri, and the right hippocampus

Diagnóstico y tratamiento de la otitis media secretora infantil: recomendaciones CODEPEH 2016

La incidencia y prevalencia de la otitis media secretora infantil (OMS) son elevadas, sin embargo, existen evidencias de que sólo una minoría de profesionales sigue las recomendaciones de las guías para su manejo clínico. Con objeto de mejorar el diagnóstico y el tratamiento de la OMS, para prevenir y/o reducir sus consecuencias sobre el desarrollo del niño, la Comisión para la Detección Precoz de la Hipoacusia (CODEPEH) ha realizado una amplia revisión de la literatura científica sobre la materia y ha elaborado un documento de recomendaciones para una correcta actitud clínica ante la OMS, abordando métodos diagnósticos y tratamiento médico y quirúrgico. Se aconseja no usar ninguna medicación, especialmente corticoides y antibióticos, siendo la espera vigilada la primera medida a tomar durante tres meses. Si persiste la OMS, el otorrinolaringólogo valorará el tratamiento quirúrgico. En niños que presentan comorbilidades de diversa entidad, el impacto de la OMS es superior por lo que hay que actuar de forma inmediata, sin espera vigilada