Huntington's disease (HD) is a neurodegenerative disease caused by a cytosine adenosine guanine (CAG) expansion in the huntingtin gene. The length of the triplet repeat is the most important factor in determining age of onset and the severity of the disease, but substantial variability of these parameters is attributed to other factors. To investigate the relationship between the years of education and the age at onset and the severity of the phenotype in patients with HD, we applied multiple linear regression analysis to examine the impact of education on the age at onset and the severity of the clinical scores assessed by the Unified Huntington's Disease Rating Scale (UHDRS) of 891 patients with HD from the multinational observational study "Registry" conducted by the European Huntintgton's Disease Network. The model was adjusted for CAG repeat length and age at the time of assessment. Patients with lengthier education exhibited earlier estimated age at onset but less severe clinical scores (motor = -3.6, P = 0.006; cognitive = 27.0, P < 0.001; behavioral = -3.0, P < 0.001; and functional capacity = 1.1 points, P < 0.001) than those with shorter education, after controlling for age and number of CAG repeats. These differences persisted throughout all quartiles of disease severity. An earlier recognition of symptoms and manifestations among the more educated patients could explain the earlier estimated age at onset in this group. The link between better clinical UHDRS scores and higher education might reflect a beneficial effect of education or its covariates on the course of HD.
resUMenSe describen las alteraciones estructurales y emocionales de las familias con uno o más miembros enfermos de Huntington, en función de los diferentes síntomas, del afectado (descendientes, progenitores) y de las diferentes etapas. Consideramos que los servicios de ayuda a la familia deben estar compuestos por profesionales expertos en las necesidades específicas de esta enfermedad y que deben ayudar a planificar y diseñar las ayudas de manera individual, adecuada y flexible. Esta ayuda debe centrarse en superar el impacto de la enfermedad, en proporcionar información relevante, en buscar soluciones prácticas, en dar apoyo emocional, en diseñar los cuidados necesarios en cada caso y etapa, y en disminuir el miedo al futuro. ABsTrACTThis article describes the structural and emotional disturbances in families with one or more members affected by Huntington's disease, according to the different symptoms, the affected member (offspring, parent) and the different stages of the disease. We consider that support services to the family should be made up of professionals who are specialists in the specific needs of the disease and who should help to plan and design individual, suitable and flexible support. This support should focus on overcoming the impact of the disease, providing relevant information, seeking practical solutions, giving emotional support, designing specific care in each case and each stage, and reducing fear of the future.
BackgroundLiterature is scare on factual data about the burden of illness of Huntington's disease (HD).AimsThis study, conducted in Spain as a part of an international survey, evaluated the quality of life (QoL) of patients with HD and their caregivers, and the economic burden of HD, from patient and caregiver perspectives.MethodsThe hospital “Hospital Ramon y Cajal” provided their patients with two self-reported questionnaires (one for the patient and one for his/her caregiver). Patients were asked to complete clinical (motor, behavioural, functional, independence), QoL and resource-utilisation data questionnaires. Caregivers reported their burden and QoL.Results59 patients and 60 caregivers were included in the study. The mean (±SD) age of patients was 49.66 (13.66) years and 51% were female. 96% of patients had taken a genetic test for HD. QoL, as measured by the EuroQoL 5D, was reduced in a significant proportion of patients across all domains: mobility (walking difficulties; 62.07%), self-care (52.63%), usual activities (61.82%), pain/discomfort (30.91%) and anxiety/depression (63.16%). The mean (±SD) health utility derived from the EuroQoL 5D was 0.54 (0.43). The average (±SD) number of monthly visits to a physician ranged from 0.13 (0.57) for geriatricians to 2.23 (4.76) for GPs, and from 0.16 (0.80) to 1.61 (5.82) for paramedical services. Fourteen per cent were admitted to hospital in the last 6 months. Caregivers reported spending considerable time caring for patients, and generally also had a reduced QoL.ConclusionsThese data confirm the burden of HD on the Spanish society, patients and caregivers. This highlights the need for patient and caregiver support. Further analysis, including costing and determinants of cost of illness, will be presented.
A567ing DIF were related to the dimension "precise movement" and were detected in the Spain-Italy comparison (Δ R 2 [left hand] = 0.2165, Δ R 2 [right hand] = 0.1618) and in the Spain-France comparison (Δ R 2 [left hand] = 0.1571, Δ R 2 [right hand] = 0.1578). ConClusions: Globally, these data support the H-CSRI cross-cultural validity. Further analyses should be conducted to confirm if those particular items need to be revised in the Spanish version.
abirateroneϩprednisone (AbP) improve overall survival (OS) in patients with mCRPC vs. mitoxantroneϩP (MP) or P alone, respectively. Examination of patient and disease characteristics noted differences in the exposure to docetaxel and discontinuation of docetaxel due to progressive disease. The current study: 1) conducted systematic literature reviews of second-line treatment studies; 2) reviewed NICE and IQWIG submissions; 3) reviewed the initial and updated OS data from the TROPIC and COU-AA-301 studies; 4) interviewed clinical experts; and 5) performed a meta-analysis of two first-line (1L) mCRPC studies to inform the ITC on the OS for the two treatments and connect the network. Three comparisons were performed using hazard ratios (HRs) for the MP vs. P: 1.0 (clinical expert opinion), 0.97 (1L studies meta-analysis), and 0.90 (survival curve extraction). The Bucher ITC was used with a HR (CbzP vs. AbP)Ͻ1 favoring CbzP. RESULTS: Results based on updated OS data were consistent across methodologies, with HR(OS, clinical)ϭ0.97 (95%CI: 0.78-1.21), HR(OS, meta-analysis)ϭ0.95 (95%CI: 0.69-1.30) and HR(OS, extraction)ϭ0.88 (95%CI: 0.63-1.21), but all HRs were not significantly different. This was observed in the docetaxel-resistant subgroup as well; with HR(OS, clinical) ϭ0.95 (95%CI: 0.70-1.28), HR(OS, meta-analysis) ϭ0.92 (95%CI: 0.63-1.34) and HR(OS, extraction)ϭ0.85 (95%CI: 0.59-1.24). These are different from the results presented in the IQWIG submission assuming that MP has the same effect as P alone based on initial OS data. CONCLUSIONS: Differences in results highlight the dependency of ITCs on efficacy assumptions. Lack of equivalence in disease, comparators or patient characteristics contribute to uncertainty regarding conclusions, which further emphasizes the fact that randomized prospective clinical trials are best suited to fully evaluate the efficacy and safety of cancer treatments.
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