II Jornadas Internacionales Colegio Profesional de Logopedas de Galicia

Este libro recoge las ponencias presentadas en las II Jornadas Internacionales organizadas por el Colegio Profesional de Logopedas de Galicia, que se celebraron durante los días 15 y 16 de noviembre en la Facultade de Ciencias da Educación da Universidade da Coruñ

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Background Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. Methods We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008–11). We generated a parallel progression score using data from 1773 previously genotyped participants from the European Huntington's Disease Network REGISTRY study of Huntington's disease mutation carriers (data collected 2003–13). We did a genome-wide association analyses in terms of progression for 216 TRACK-HD participants and 1773 REGISTRY participants, then a meta-analysis of these results was undertaken. Findings Longitudinal motor, cognitive, and imaging scores were correlated with each other in TRACK-HD participants, justifying use of a single, cross-domain measure of disease progression in both studies. The TRACK-HD and REGISTRY progression measures were correlated with each other (r=0·674), and with age at onset (TRACK-HD, r=0·315; REGISTRY, r=0·234). The meta-analysis of progression in TRACK-HD and REGISTRY gave a genome-wide significant signal (p=1·12 × 10−10) on chromosome 5 spanning three genes: MSH3, DHFR, and MTRNR2L2. The genes in this locus were associated with progression in TRACK-HD (MSH3 p=2·94 × 10−8 DHFR p=8·37 × 10−7 MTRNR2L2 p=2·15 × 10−9) and to a lesser extent in REGISTRY (MSH3 p=9·36 × 10−4 DHFR p=8·45 × 10−4 MTRNR2L2 p=1·20 × 10−3). The lead single nucleotide polymorphism (SNP) in TRACK-HD (rs557874766) was genome-wide significant in the meta-analysis (p=1·58 × 10−8), and encodes an aminoacid change (Pro67Ala) in MSH3. In TRACK-HD, each copy of the minor allele at this SNP was associated with a 0·4 units per year (95% CI 0·16–0·66) reduction in the rate of change of the Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score, and a reduction of 0·12 units per year (95% CI 0·06–0·18) in the rate of change of UHDRS Total Functional Capacity score. These associations remained significant after adjusting for age of onset. Interpretation The multidomain progression measure in TRACK-HD was associated with a functional variant that was genome-wide significant in our meta-analysis. The association in only 216 participants implies that the progression measure is a sensitive reflection of disease burden, that the effect size at this locus is large, or both. Knockout of Msh3 reduces somatic expansion in Huntington's disease mouse models, suggesting this mechanism as an area for future therapeutic investigation

Gestación subrogada: Aspectos emocionales y psicológicos en la mujer gestante

Surrogate pregnancy is included in the new techniques of assisted reproduction in which a woman develops a child for another person, which will adopt the role of parents. In Spain, this technique is currently forbidden but a social debate about a possible legalization has been opened. It is a complex decision, since there are a lot of emotional and psychological aspects that can affect all the members of the triad: pregnant woman, surrogates and the future child. In the case of the pregnant woman, the emotions produced during the whole process, or rather the cancellation of them, as well as the possible later difficulties in the delivery of the child make it fundamental to reconsider the true need to establish a technique whose implications they can generate negative emotional disturbances, especially in the most vulnerable parts of the agreement.La gestación subrogada se engloba dentro de las nuevas técnicas de reproducción asistida, en la cual una mujer gesta un niño para otra/s persona/s, las cuales adoptaran el papel de progenitores. En España, esta técnica está prohibida en la actualidad pero se ha abierto un debate social acerca de una posible legalización. Se trata de una decisión compleja, puesto que concurren un sinfín de aspectos emocionales y psicológicos que pueden afectar a todos los miembros de la triada: mujer gestante, padres subrogantes y el futuro niño. En el caso de la mujer gestante, las emociones producidas durante todo el proceso, o más bien la anulación de las mismas, así como las posibles dificultades posteriores en la entrega del niño, hacen que sea fundamental replantearse la necesidad real de instaurar una técnica, cuyas implicaciones pueden generar alteraciones emocionales negativas, sobre todo en las partes más vulnerables del acuerdo

Influencias mediáticas y personales sobre la decisión de protegerse del VIH/SIDA

Se analizan las influencias que las personas reconocen en cuanto a su decisión de adoptar o no medidas de protección con respecto al VIH. Se aplicó a una muestra por cuotas de 124 personas un cuestionario con preguntas cerradas y abiertas. Los datos recogidos muestran que las influencias que las personas reconocen con respecto a este tema abarcan una doble secuencia, que comprende medios masivos, influencias personales (de profesionales), medios masivos e influencias personales (de personas cercanas). Se concluye que el proceso de innovación necesario para modificar la conducta en el sentido de la protección requiere que intervenga en él una instancia personalizada que permita procesar la información como perteneciente el endogrupo, variable que ha sido poco explorada en los estudios realizados sobre el tema y en las políticas de prevención adoptadas

Sensibilidad de biomarcadores en el líquido cefalorraquídeo en enfermedades neurodegenerativas

Recent advances in the pathophysiology of Alzheimer�s disease has prompted the clinical development of biomarkers that would expand research in early diagnosis, rate of disease progression and monitoring the effect of therapies. Cerebrospinal fluid measures (CSF) of beta-amyloid 42, total tau and phospo- tau proteins have shown a high diagnostic accuracy in differenciating Alzheimer�s dementia from healthy controls, even at very early stages of the disease. Diagnostic accuracy of the biomarkers between Alzheimer�s disease and other dementia types is not as good, although the specificity of phospo-tau levels remains high. Clinical usefulness is limited by the invasiveness of the procedure, and by strict adhesion to a well-defined protocol and sample handling. The type of technical method for determination is not widely established, and variability between centres is high. Nevertheless, there is an important role of CSF biomarkers in selected cases, and in the research of timing the events of Alzheimer�s disease.El avance en el conocimiento de la biología de la enfermedad de Alzheimer ha favorecido el desarrollo clínico de biomarcadores que permitan un diagnóstico temprano, monitoricen la progresión y puedan servir parar la evaluación de terapias. Las determinaciones en el líquido cefalorraquídeo (LCR) de beta-amiloide 42 (BA42), proteína tau total y proteína tau fosforilada han mostrado tener un rendimiento diagnóstico elevado para diferenciar la demencia tipo Alzheimer respecto a controles, incluso en fases incipientes de la misma. El rendimiento respecto a otros tipos de enfermedades neurodegenerativas es más bajo, aunque la especificidad de la tau fosforilada se mantiene para diferenciar la demencia tipo Alzheimer de las otras. La aplicabilidad clínica se encuentra limitada por la necesidad de un procedimiento invasivo, y de un protocolo y adiestramiento técnico en la determinación de específicos. La tecnología de medida todavía no está estandarizada a nivel global y la variabilidad entre centros es alta. Sin embargo, en casos clínicos seleccionados y en la investigación de la patocronia de la enfermedad de Alzheimer, los biomarcadores de LCR juegan un papel importante

Optimization of adsorptive removal of α-toluic acid by CaO2 nanoparticles using response surface methodology

The present work addresses the optimization of process parameters for adsorptive removal of α-toluic acid by calcium peroxide (CaO2) nanoparticles using response surface methodology (RSM). CaO2 nanoparticles were synthesized by chemical precipitation method and confirmed by Transmission electron microscopy (TEM) and high-resolution TEM (HRTEM) analysis which shows the CaO2 nanoparticles size range of 5–15 nm. A series of batch adsorption experiments were performed using CaO2 nanoparticles to remove α-toluic acid from the aqueous solution. Further, an experimental based central composite design (CCD) was developed to study the interactive effect of CaO2 adsorbent dosage, initial concentration of α-toluic acid, and contact time on α-toluic acid removal efficiency (response) and optimization of the process. Analysis of variance (ANOVA) was performed to determine the significance of the individual and the interactive effects of variables on the response. The model predicted response showed a good agreement with the experimental response, and the coefficient of determination, (R2) was 0.92. Among the variables, the interactive effect of adsorbent dosage and the initial α-toluic acid concentration was found to have more influence on the response than the contact time. Numerical optimization of process by RSM showed the optimal adsorbent dosage, initial concentration of α-toluic acid, and contact time as 0.03 g, 7.06 g/L, and 34 min respectively. The predicted removal efficiency was 99.50%. The experiments performed under these conditions showed α-toluic acid removal efficiency up to 98.05%, which confirmed the adequacy of the model prediction

Clinical manifestations of intermediate allele carriers in Huntington disease

Objective: There is controversy about the clinical consequences of intermediate alleles (IAs) in Huntington disease (HD). The main objective of this study was to establish the clinical manifestations of IA carriers for a prospective, international, European HD registry. Methods: We assessed a cohort of participants at risk with <36 CAG repeats of the huntingtin (HTT) gene. Outcome measures were the Unified Huntington's Disease Rating Scale (UHDRS) motor, cognitive, and behavior domains, Total Functional Capacity (TFC), and quality of life (Short Form-36 [SF-36]). This cohort was subdivided into IA carriers (27-35 CAG) and controls (<27 CAG) and younger vs older participants. IA carriers and controls were compared for sociodemographic, environmental, and outcome measures. We used regression analysis to estimate the association of age and CAG repeats on the UHDRS scores. Results: Of 12,190 participants, 657 (5.38%) with <36 CAG repeats were identified: 76 IA carriers (11.56%) and 581 controls (88.44%). After correcting for multiple comparisons, at baseline, we found no significant differences between IA carriers and controls for total UHDRS motor, SF-36, behavioral, cognitive, or TFC scores. However, older participants with IAs had higher chorea scores compared to controls (p 0.001). Linear regression analysis showed that aging was the most contributing factor to increased UHDRS motor scores (p 0.002). On the other hand, 1-year follow-up data analysis showed IA carriers had greater cognitive decline compared to controls (p 0.002). Conclusions: Although aging worsened the UHDRS scores independently of the genetic status, IAs might confer a late-onset abnormal motor and cognitive phenotype. These results might have important implications for genetic counseling. ClinicalTrials.gov identifier: NCT01590589