https://hdl.handle.net/10259/6257 Sun, 19 Apr 2026 11:14:39 GMT 2026-04-19T11:14:39Z https://hdl.handle.net/10259/8859 Cómo estimar la composición corporal en la enfermedad de Huntington. Estudio transversal y observacional con bioimpedancia de múltiples frecuencias Rivadeneyra Posadas, Jéssica Jannett; Simón Vicente, Lucía; Castillo, Daniel; Raya-González, Javier; Soto Célix, María .; Rodríguez Fernández, Alejandro; García Bustillo, Álvaro; Saiz Rodríguez, Miriam; Vázquez Sánchez, Fernando; Aguado, Laura; Leyva-Hernández, Gonzalo Gámez; Cubo Delgado, Esther Introducción: La enfermedad de Huntington (EH) es un trastorno raro neurodegenerativo. La información fiable del estado nutricional, especialmente de la composición corporal, es crítica en clínica y en investigación. La facilidad de aplicación y portabilidad del análisis de la bioimpedancia de múltiples frecuencias (mfBIA) la convierten en una herramienta atractiva para medirla, pero se desconoce su precisión en la EH. Objetivo: Evaluar la precisión del mfBIA frente a la absorciometría dual de rayos X (DEXA) en la EH. Pacientes y métodos: Estudio transversal, observacional y unicéntrico. La EH se midió con la subescala motora de la escala unificada de valoración de la EH y con la capacidad funcional total. La composición corporal se valoró según la masa libre de grasa (MLG), la masa grasa (MG), el índice de masa libre de grasa (IMLG) y el índice de masa grasa (IMG). Se utilizó el coeficiente de correlación intraclase con intervalos de confianza al 95% y estimaciones de sesgo mediante gráficos de Bland-Altman. Resultados: Se incluyó a 16 pacientes, siete hombres y nueve mujeres, con edad media de 58,5 (32-68) años, capacidad funcional total de 10 (3-13) y escala unificada de valoración de la EH de 31 (7-85). La fiabilidad era alta entre el mfBIA y la DEXA para el IMLG en hombres, 0,88 (intervalo de confianza al 95%: 0,17-0,98), y mujeres, 0,9 (intervalo de confianza al 95%: 0,61-0,98); y para el IMG en hombres, 0,97 (intervalo de confianza al 95%: 0,83-0,99), y mujeres, 0,91 (intervalo de confianza al 95%: 0,68-0,98). El mfBIA sobreestimó ligeramente la MLG, la MG, el IMG y el IMLG en los hombres, pero subestimó el IMLG en las mujeres. Conclusiones: El mfBIA es un método fácil de usar, seguro, no invasivo y preciso para medir la composición corporal y el estado nutricional en pacientes con EH leve-moderada.; Introduction: Huntington´s disease (HD) is a rare neurodegenerative disorder. Reliable information about nutritional status, especially body composition from individuals with HD is critical for clinical care and research. The ease of application and portability of multiple frequencies bioelectrical impedance analysis (mfBIA) make it an attractive tool for measuring body composition, but its accuracy in HD is unknown. Aim: To evaluate the accuracy of mfBIA vs. Dual X-ray absorptiometry (DEXA) in HD. Patients and methods: Cross-sectional, observational, and single-center study. HD severity was measured using motor subscale of the unified Huntington´s disease rating scale (m-UHDRS) and the total functional capacity (TFC). Body composition was measured in terms of fat-free mass (FFM), fat mass (FM), fat-free mass index (FFMI), and fat mass index (FMI). Using Bland-Altman plots, we analyzed reliability between DEXA and mfBIA using the Intraclass Correlation Coefficient with 95% confidence intervals (CI) and bias estimates for all. Results: We included 16 patients with HD, 7 men, and 9 women, median age of 58.5 (32;68) years, TFC: 10 (3;13), and m-UHDRS: 31 (7;85). The reliability between mfBIA and DEXA were high for FFMI in men: 0.88 (95% CI 0.17-0.98), and women: 0.90 (95% CI 0.61- 0.98); for FMI, men: 0.97 (95% CI 0.83-0.99), and women: 0.91 (95% CI 0.68-0.98). Compared to DEXA, mfBIA slightly overestimated FFM, FM, FMI and FFMI in men and underestimated FFMI in women. Conclusions: mfBIA is an easy-to-use, safe, non-invasive, accurate method for measuring body composition and nutritional status in patients with mild-moderate HD. Mon, 01 Jan 2024 00:00:00 GMT https://hdl.handle.net/10259/8859 2024-01-01T00:00:00Z https://hdl.handle.net/10259/8833 Occupational performance in Huntington’s disease: A cross-sectional study Simón Vicente, Lucía; Cuesta García, César; Rivadeneyra Posadas, Jéssica Jannett; Mariscal, Natividad; Aguado, Laura; Miguel-Pérez, Irene; Saiz Rodríguez, Miriam; García Bustillo, Álvaro; Muñoz-Siscart, Ignacio; Piñeiro, Dolores; Cubo Delgado, Esther Introduction: Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder characterized by motor dysfunction, cognitive impairment, and psychiatric disorders. These symptoms cause functional limitations in occupational performance. This study aimed to describe the difficulties in self-care, productivity, and leisure activities and to analyze the patients’ own perception and satisfaction and the association with sex, age, disability, HD severity, and quality of life. Method: We conducted an observational, retrospective study in 38 patients with HD without cognitive impairment at the Burgos University Hospital. We assessed occupational performance, quality of life, and HD severity with the Canadian Occupational Performance Measure, Short-Form Health Survey 12, Unified Huntington’s Disease Rating Scale, Total Functional Capacity, and the Problems Behavior Assessment. Results: One hundred sixty-five occupations (median 4, range 2–7) were categorized as self-care (50.90%), leisure (30.30%), and productivity (18.79%). Patients reported a higher degree of satisfaction with the activities prioritized than with the degree of performance. Elderly HD patients reported more satisfaction in leisure and women in self-care. Self-ratings of satisfaction in productivity were associated with higher levels of mental wellbeing. Conclusions: HD patients have problems with their daily life occupations, particularly with self-care. This underlines the need for assessment tools that capture the complexity of occupations. Sat, 01 Apr 2023 00:00:00 GMT https://hdl.handle.net/10259/8833 2023-04-01T00:00:00Z https://hdl.handle.net/10259/8832 Pharmacogenetics in the Treatment of Huntington’s Disease: Review and Future Perspectives García González, Xandra; Cubo Delgado, Esther; Simón Vicente, Lucía; Mariscal, Natividad; Alcaraz, Raquel; Aguado, Laura; Rivadeneyra Posadas, Jéssica Jannett; Sanz Solas, Antonio; Saiz Rodríguez, Miriam Huntington’s disease (HD) is an autosomal dominant progressive brain disorder, caused by a pathological expansion of a CAG repeat that encodes the huntingtin gene. This genetic neurodegenerative rare disease is characterized by cognitive, motor, and neuropsychiatric manifestations. The aim of the treatment is symptomatic and addresses the hyperkinetic disorders (chorea, dystonia, myoclonus, tics, etc.) and the behavioural and cognitive disturbances (depression, anxiety, psychosis, etc.) associated with the disease. HD is still a complex condition in need of innovative and efficient treatment. The long-term goal of pharmacogenetic studies is to use genotype data to predict the effective treatment response to a specific drug and, in turn, prevent potential undesirable effects of its administration. Chorea, depression, and psychotic symptoms have a substantial impact on HD patients’ quality of life and could be better controlled with the help of pharmacogenetic knowledge. We aimed to carry out a review of the available publications and evidence related to the pharmacogenetics of HD, with the objective of compiling all information that may be useful in optimizing drug administration. The impact of pharmacogenetic information on the response to antidepressants and antipsychotics is well documented in psychiatric patients, but this approach has not been investigated in HD patients. Future research should address several issues to ensure that pharmacogenetic clinical use is appropriately supported, feasible, and applicable. Wed, 01 Feb 2023 00:00:00 GMT https://hdl.handle.net/10259/8832 2023-02-01T00:00:00Z https://hdl.handle.net/10259/8654 Transcranial direct current stimulation improves visual acuity in amblyopic Long-Evans rats Castaño Castaño, Sergio; Garcia-Moll, A.; Morales Navas, Miguel; Fernández Jover, Eduardo; Sánchez Santed, Fernando; Nieto Escámez, Francisco A. Transcranial direct current stimulation (tDCS) has proved to increase brain cortex plasticity and different models of brain damage. In this work, we have analyzed the effects of tDCS in an experimental model of amblyopia using Long-Evans rats. Animals were monocularly deprived between 12 and 75 postnatal days and visual cortex contralateral to the deprived eye was stimulated using anodal tDCS during 8 days (20 min/day). The effects of tDCS treatment on the visual function were evaluated by using the optomotor reflex of the animals as a measure of visual acuity. Results obtained indicate that monocular occlusion during the critical period lead to a reduction of visual acuity in monocular and binocular conditions. Stimulation with anodal tDCS produced a nearly full recovery in visual acuity of amblyopic animals. However, same stimulation protocol in healthy control animals produced a decrease of binocular visual acuity. These data indicate that tDCS can reverse the effects of monocular deprivation on visual acuity, although it is essential to use this technique in a controlled way due to the possible adverse effects on healthy individuals. Wed, 01 Feb 2017 00:00:00 GMT https://hdl.handle.net/10259/8654 2017-02-01T00:00:00Z