Estructura factorial y consistencia interna de la Escala de Severidad de Fatiga en población colombiana con enfermedades crónicas

El presente estudio de corte psicométrico, tuvo como objetivo analizar la estructura factorial y la consistencia interna versión en español del cuestionario Fatigue Severity Scale (FSS) en población colombiana de enfermos crónicos. Para ello se aplicó el cuestionario a 52 enfermos crónicos de la ciudad de Villavicencio. El análisis factorial denota tres factores: el factor 1 denominado como afectación física, el factor 2 denominado afectación social y finalmente el factor 3 denominado afectación motivacional de la fatiga, que explican el 76,324% de la varianza total acumulada, y un alfa de Cronbach de 870. Los resultados muestran una alta confiabilidad y concordancia en la estructura factorial con la versión original, lo que implica adecuada validez de la prueba en población colombiana de enfermos crónicos.The present study has a psychometric design, with the objective of analyzing the factorial structure and the internal consistency for the Spanish version of the Fatigue Severity Scale (FSS) Questionnaire for Colombian population with chronic disease. Was applied the questionnaire to 52 people with chronic disease in Villavicencio city. The factorial Analysis indicates three factors: Factor 1 named physical affectation, Factor 2 named social affectation and Factor 3 named motivational affectation of the fatigue, where they explain the 76.324% of the total cumulative variance with .870 of Cronbach's Alpha. The results present a high reliability and concordance for the factorial structure with the original version which indicates an adequate validity of the test for Colombian population with chronic disease. © Servicio de Publicaciones - Universidad de Murcia

Comprehensive analysis of epigenetic clocks reveals associations between disproportionate biological ageing and hippocampal volume

The concept of age acceleration, the difference between biological age and chronological age, is of growing interest, particularly with respect to age-related disorders, such as Alzheimer’s Disease (AD). Whilst studies have reported associations with AD risk and related phenotypes, there remains a lack of consensus on these associations. Here we aimed to comprehensively investigate the relationship between five recognised measures of age acceleration, based on DNA methylation patterns (DNAm age), and cross-sectional and longitudinal cognition and AD-related neuroimaging phenotypes (volumetric MRI and Amyloid-β PET) in the Australian Imaging, Biomarkers and Lifestyle (AIBL) and the Alzheimer’s Disease Neuroimaging Initiative (ADNI). Significant associations were observed between age acceleration using the Hannum epigenetic clock and cross-sectional hippocampal volume in AIBL and replicated in ADNI. In AIBL, several other findings were observed cross-sectionally, including a significant association between hippocampal volume and the Hannum and Phenoage epigenetic clocks. Further, significant associations were also observed between hippocampal volume and the Zhang and Phenoage epigenetic clocks within Amyloid-β positive individuals. However, these were not validated within the ADNI cohort. No associations between age acceleration and other Alzheimer’s disease-related phenotypes, including measures of cognition or brain Amyloid-β burden, were observed, and there was no association with longitudinal change in any phenotype. This study presents a link between age acceleration, as determined using DNA methylation, and hippocampal volume that was statistically significant across two highly characterised cohorts. The results presented in this study contribute to a growing literature that supports the role of epigenetic modifications in ageing and AD-related phenotypes

New insights into the genetic etiology of Alzheimer's disease and related dementias

Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele

Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference

The heterogeneity of neurodegenerative diseases is a key confound to disease understanding and treatment development, as study cohorts typically include multiple phenotypes on distinct disease trajectories. Here we introduce a machine-learning technique\u2014Subtype and Stage Inference (SuStaIn)\u2014able to uncover data-driven disease phenotypes with distinct temporal progression patterns, from widely available cross-sectional patient studies. Results from imaging studies in two neurodegenerative diseases reveal subgroups and their distinct trajectories of regional neurodegeneration. In genetic frontotemporal dementia, SuStaIn identifies genotypes from imaging alone, validating its ability to identify subtypes; further the technique reveals within-genotype heterogeneity. In Alzheimer\u2019s disease, SuStaIn uncovers three subtypes, uniquely characterising their temporal complexity. SuStaIn provides fine-grained patient stratification, which substantially enhances the ability to predict conversion between diagnostic categories over standard models that ignore subtype (p = 7.18 7 10 124 ) or temporal stage (p = 3.96 7 10 125 ). SuStaIn offers new promise for enabling disease subtype discovery and precision medicine

Health-related quality of life, anxiety, depression and spiritual wellbeing in patients with chronic obstructive pulmonary disease [Calidad de vida relacionada con la salud, ansiedad, depresión y bienestar espiritual en pacientes con diagnóstico de enfermedad pulmonar obstructiva cronica]

The aim of this study was to evaluate the relationship between health-related quality of life -HRQOL, anxiety, depression and spiritual well-being in patients diagnosed with chronic obstructive pulmonary disease -COPD. The sample consisted of 71 patients with a mean age of 72 years old. The study design was descriptive correlational. Instruments: Medical Outcomes Study 36-Item ShortForm Health Survey, MOS SF-36, Airways Questionnaire (AQ-20), Spirituality Index of Well-Being (SIWB) and The Hospital Anxiety and Depression Scale -HADS. Results: The physical-quality-of-life index of MOS-SF36 had a lower score with respect to the mental summary index, at a general level the HRQoL of these patients was favorable. Regarding multiple linear regression analysis, there was a negative relationship of anxiety with quality of life measured with AQ-20. The results confirm the weight of negative emotions on the perception of quality of life of patients with COPD. © 2018 Fundación AIGLé.El propósito de este estudio fue evaluar las relaciones entre calidad de vida relacionada con la salud -CVRS, la ansiedad, la depresión y el bienestar espiritual en pacientes con diagnóstico de enfermedad pulmonar obstructiva crónica -EPOC. La muestra estuvo conformada por 71 pacientes con una media de edad de 72 años. El diseño del estudio fue descriptivo correlacional. Instrumentos: cuestionario de calidad de vida relacionada con la salud -MOS SF36, cuestionario de calidad de vida abreviado para pacientes con EPOC Airways -AQ20, inventario de bienestar espiritual -SIWB y escala hospitalaria de ansiedad y depresión -HADS. Resultados: el índice sumario físico de calidad de vida del MOS-SF36 tuvo una puntación más baja con respecto al índice de sumario mental, a nivel general la CVRS de estos pacientes fue favorable. Respecto al análisis de regresión lineal múltiple, hubo una relación negativa de la ansiedad con la calidad de vida medida con el AQ-20. Los resultados encontrados confirman el peso de la ansiedad, especialmente, sobre la percepción de la CVRS en los pacientes con EPOC. © 2018 Fundación AIGLé

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele. © 2022, The Author(s)