Search results for "Huntington"
showing 10 items of 54 documents
Cancer and central nervous system disorders: protocol for an umbrella review of systematic reviews and updated meta-analyses of observational studies
2017
[Background] The objective of this study will be to synthesize the epidemiological evidence and evaluate the validity of the associations between central nervous system disorders and the risk of developing or dying from cancer.
UN INTERVENTO INTEGRATO TRA TERAPIA FARMACOLOGICA E NON FARMACOLOGICA IN UN CASO DI COREA DI HUNTINGTON: PRIMI RISULTATI
2016
Il lavoro che presentiamo riguarda un intervento integrato effettuato attraverso terapia farmacologica e non farmacologica (musicoterapia) realizzato all’interno del centro U.V.A. N°6 dell’A.O.U.P. del Policlino “P. Giaccone” di Palermo con una paziente affetta da Corea di Huntington, di 59 anni, seguita precedentemente dall’ambulatorio di neurologia della stessa azienda. La paziente si è ripresenta nel nostro centro uva nel novembre del 2015 a causa di un peggioramento delle turbe dell’equilibrio, della coordinazione motoria, dei movimenti coreici, dei deficit di memoria e del tono dell’umore in senso depressivo, facile irritabilità e labilità emotiva; in terapia con trifluoperazina diclor…
Contra el miedo
2007
J15 Validation Of 24 H Dietary Recalls To Assess Dietary Intake For Patients With Huntington's Disease. Spanish Multicenter Study Of The European Gro…
2014
Background Weighed dietary records are considered as the gold standard in nutrition assessment, but 24 h dietary recalls (24-h) and 3 days dietary record (3-d) are usually used. The 24-h is less laborious and cheaper but is necessary to have an experienced interviewer; while the 3-d are completed by the same participant/caregiver, it is more reliable but more expensive, time consuming is high, require previous training and have more dropouts. Our aim was to compare the two procedures to assess dietary intake in HD. Objectives To validate a 24-h vs 3-d to assess dietary intake for patients with HD. Methods Spanish multicenter, longitudinal study (EHDN). A 24-h was administered (with a one-mo…
Efectos del compuesto 4QMn en ratones zQ175neo como modelo murino de la enfermedad neurodegenerativa de Huntington
2022
La enfermedad de Huntington (EH) es un grave trastorno neurodegenerativo autosómico dominante caracterizado por una combinación de síntomas motores, cognitivos y psiquiátricos. Su causa es la expansión de una secuencia de repeticiones CAG en el gen HTT, que codifica una versión mutada de la proteína Huntingtina (Yapijakis, 2017). Esta secuencia expandida origina cambios conformacionales que propician la formación de agregados tanto citosólicos como nucleares y, con ello, alteraciones intracelulares, toxicidad y pérdida neuronal (Nance, 2017). La progresión inevitable de la patología resulta en la muerte de las personas con EH entre 5 y 20 años después de la manifestación de sus síntomas (Ka…
Deregulated Splicing Is a Major Mechanism of RNA-Induced Toxicity in Huntington's Disease.
2019
Huntington's disease (HD) is caused by an expanded CAG repeat in the huntingtin (HTT) gene, translating into an elongated polyglutamine stretch. In addition to the neurotoxic mutant HTT protein, the mutant CAG repeat RNA can exert toxic functions by trapping RNA-binding proteins. While few examples of proteins that aberrantly bind to mutant HTT RNA and execute abnormal function in conjunction with the CAG repeat RNA have been described, an unbiased approach to identify the interactome of mutant HTT RNA is missing. Here, we describe the analysis of proteins that preferentially bind mutant HTT RNA using a mass spectrometry approach. We show that (I) the majority of proteins captured by mutant…
La enfermedad de Huntington infantil en la escuela
2012
Hemos asumido el reto de dar respuesta a las necesidades socioeducativas y sanitarias derivadas de las Enfermedades Raras debido a que el alumnado con este tipo de enfermedades también constituye un grupo importante de población desde el punto de vista de los servicios sanitarios y socioeducativos. En esta comunicación se describen las secuelas asociadas a la Enfermedad de Huntington Juvenil, las necesidades educativas especiales, y la respuesta educativa adecuada a estas necesidades. Sus síntomas presentan desafíos únicos en los individuos afectados, a las personas que cuidan de ellos y a los diferentes profesionales que los atienden. Sin embargo, aunque la Enfermedad de Huntington Juvenil…
RNA Sequencing of Human Peripheral Blood Cells Indicates Upregulation of Immune-Related Genes in Huntington's Disease
2020
Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disorder caused by a trinucleotide repeat expansion in the Huntingtin gene. As disease-modifying therapies for HD are being developed, peripheral blood cells may be used to indicate disease progression and to monitor treatment response. In order to investigate whether gene expression changes can be found in the blood of individuals with HD that distinguish them from healthy controls, we performed transcriptome analysis by next-generation sequencing (RNA-seq). We detected a gene expression signature consistent with dysregulation of immune-related functions and inflammatory response in peripheral blood from HD ca…
J14 Mediterranean Diet And Nutritional Composition Of Patients With Huntington's Disease. Spanish Multicenter Study Of The European Group For Hunting…
2014
Background The impact of a diet is well known in human health. Intake of food groups (fruits and ‘uts, vegetables, legumes, olive oil, whole grains, fish and wine) in the traditional Mediterranean Diet (MeDi) and high MeDi adherence have been associated with lower incidence of chronic diseases and slower cognitive decline, but the relationship between MeDi adherence and nutritional composition has not been reported. Objectives To describe MeDi and nutritional composition in patients with HD. Methods Spanish multicenter, cross-sectional study (EHDN). To assess MeDi we used a 3-days dietary record. Food groups, macro and micronutrients and energy intake information were obtained using the sof…
Factors Associated with Low Body Mass Index in Huntington's Disease: A Spanish Multicenter Study of the European Huntington's Disease Registry
2016
Background Patients with Huntington's disease (HD) are at risk for body weight loss and increased risk for institutionalization, morbidity, and mortality. The aim of this study was to determine the factors associated with low body mass index (BMI) in patients with HD. Methods In this national, observational, cross-sectional study of the European Huntington's Disease Network, the frequency of food consumption, calories, and nutrient intake in patients with HD was assessed using questionnaires validated for the Spanish population and were calculated using the software package Alimentacion and Salud (Diet and Health), version 2.0. Nutritional status was estimated using the BMI, and disease sev…