Uso de modelos Better y Plissit por enfermería en la valoración de la sexualidad del paciente oncológico

La sexualidad en el paciente oncológico se puede alterar por los tratamientos del cáncer, y afectar su calidad de vida de manera significativa. Aunque los profesionales de enfermería conocen su importancia, no siempre realizan valoración para identificar esas alteraciones y apoyar al paciente en su solución. Existen modelos de valoración como el Better y Plissit que pueden facilitar la valoración de los pacientes por parte de enfermería, que motivaron la realización de este estudio. Mediante una revisión documental de 12 estudios de investigación publicados en Inglés del año 2000 al 2011, en las bases de datos Elseiver, Science Direct, Scielo, Pubmed, Medline, se buscó identificar si el uso por parte de enfermería de los modelos Better y Plissit facilita la valoración de la sexualidad del paciente oncológico, y elimina las barreras de enfermería para realizar esa valoración. Las principales barreras identificadas en orden de prioridad se relacionan con la educación, el rol de enfermería, las condiciones ambientales y las condiciones personales. El modelo Plissit, más utilizado en los artículos analizados, permite realizar una mejor aproximación a la sexualidad del paciente con cáncer que el modelo Better, aunque éste presenta algunos beneficios en el abordaje de la sexualidad. Es importante que las instituciones de educación de enfermería tanto en pregrado como en posgrado refuercen la formación en el abordaje de la sexualidad de los pacientes. Se requiere mayor investigación sobre los modelos descritos que permitan determinar su efectividad en la relación enfermera - paciente para la valoración, abordaje y solución de las alteraciones que pueden provocar los tratamientos oncológicos al paciente.Especialista en Enfermería OncológicaEspecializació

Multiancestry analysis of the HLA locus in Alzheimer’s and Parkinson’s diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes

Across multiancestry groups, we analyzed Human Leukocyte Antigen (HLA) associations in over 176,000 individuals with Parkinson’s disease (PD) and Alzheimer’s disease (AD) versus controls. We demonstrate that the two diseases share the same protective association at the HLA locus. HLA-specific fine-mapping showed that hierarchical protective effects of HLA-DRB1*04 subtypes best accounted for the association, strongest with HLA-DRB1*04:04 and HLA-DRB1*04:07, and intermediary with HLA-DRB1*04:01 and HLA-DRB1*04:03. The same signal was associated with decreased neurofibrillary tangles in postmortem brains and was associated with reduced tau levels in cerebrospinal fluid and to a lower extent with increased Aβ42. Protective HLA-DRB1*04 subtypes strongly bound the aggregation-prone tau PHF6 sequence, however only when acetylated at a lysine (K311), a common posttranslational modification central to tau aggregation. An HLA-DRB1*04-mediated adaptive immune response decreases PD and AD risks, potentially by acting against tau, offering the possibility of therapeutic avenues

Confiabilidad del instrumento Brief Cope Inventory en su versión en español para evaluar estrategias de afrontamiento en pacientes con cáncer de seno. Bogotá, Colombia. 2009

Enfermero (a)Pregrad

Confiabilidade do questionário Brief COPE Inventory em versão em espanhol para avaliar estratégias de afrontamento em pacientes com câncer de mama

Introducción: El cáncer de seno no sólo se caracteriza por sus elevadas cifras estadísticas, sino por las cargas emocionales que conlleva y que desempeñan un papel importante en la enfermedad, pues estas se equilibran a través del proceso de afrontamiento mediante dos estrategias: una activa (relacionada con enfrentar la enfermedad de manera directa) y una pasiva (que trata de evitar y negar el conflicto que vive la mujer). Objetivo: Establecer la confiabilidad del cuestionario Brief COPE Inventory (BCI) en versión en español para evaluar estrategias de afrontamiento en mujeres con cáncer de seno. Metodología: Estudio psicométrico con 140 aplicaciones del cuestionario a pacientes en una unidad oncológica de Bogotá. Para el análisis se utilizó el programa estadístico SPSS 16.0, que determinó la confiabilidad a través del modelo alfa de Cronbach. Resultados: El estudio determinó para el BCI un alfa de Cronbach total de 0,698. Para la dimensión afrontamiento activo, el valor del alfa fue de 0,663, y para la dimensión afrontamiento pasivo, de 0,523. El cuestionario quedó conformado por 28 ítems que evalúan dos dimensiones: afrontamiento activo y afrontamiento pasivo, cada una con siete estrategias. Conclusión: El BCI en versión en español aplicado a mujeres con cáncer de seno no sufrió cambios significativos en su constructo teórico, lo que muestra que puede utilizarse en esta población, así como en las que ya fue validado; sin embargo, se recomienda continuar con el análisis psicométrico, aplicándolo a población colombiana para evaluar estrategias de afrontamiento con el fin de obtener indicadores de validez externa. Abstract Introduction: Breast cancer is not only characterized by their high statistical figures but also by emotional burdens that play an important role in the disease which are balanced through the process of coping, which is carried out usin various strategies, with two forms: An active form (associated with the disease face a direct), and a passive form (seeks to avoid conflict conflict and deny the patient lives). Objective: To establish the reliability of the questionnaire Brief COPE Invetory (BCI) in Spanish to asses coping strategies in women with breast cancer. Methodology: A psycometric questionnaire applications with 140 patients in an oncology unit in Bogotá was used to analyze the statistical program SPSS 16.0, determining the reliability by Cronbach's alpha model. Results: Showed the BCI in an Spanish Cronbach alpha of 0.698. For the active coping dimension value was 0.663, and for passive copin dimension 0.523. The questionnaire was composed of 28 items that assess two dimensions: coping an stand, each with seven coping startegies. Conclusion: The BCI in Spanish applied to women with breast cancer did not suffer significant changes in his theoretical construct, which shows that can be used in this population as well as the already approved and recommended to continue with the analysis applied to psychometric Colombian population to assess coping strategies in order to obtain indicators of external validity.Introduction: Breast cancer is not only characterized by their high statistical figures but also by emotional burdens that play an important role in the disease which are balanced through the process of coping, which is carried out usin various strategies, with two forms: An active form (associated with the disease face a direct), and a passive form (seeks to avoid conflict conflict and deny the patient lives). Objective: To establish the reliability of the questionnaire Brief COPE Invetory (BCI) in Spanish to asses coping strategies in women with breast cancer. Methodology: A psycometric questionnaire applications with 140 patients in an oncology unit in Bogotá was used to analyze the statistical program SPSS 16.0, determining the reliability by Cronbach's alpha model. Results: Showed the BCI in an Spanish Cronbach alpha of 0.698. For the active coping dimension value was 0.663, and for passive copin dimension 0.523. The questionnaire was composed of 28 items that assess two dimensions: coping an stand, each with seven coping startegies. Conclusion: The BCI in Spanish applied to women with breast cancer did not suffer significant changes in his theoretical construct, which shows that can be used in this population as well as the already approved and recommended to continue with the analysis applied to psychometric Colombian population to assess coping strategies in order to obtain indicators of external validity.Introdução: O câncer de mama não só está caracterizado por seu alto número de casos, senão também pela carga emocional, que desempenha um papel importante na doença, aspecto que é equilibrado através do processo de afrontamento realizado por os doentes, mediante duas estratégias que incluem: uma forma ativa (relacionada com o afrontamento da doença) e uma forma passiva (que tenta evitar e negar o conflito). Objetivo: Determinar a confiabilidade do questionário Brief COPE Inventory (BCI) em versão ao espanhol para avaliar as estratégias de afrontamento em mulheres com câncer de mama. Metodologia: Foi feito um estudo psicometrico com 140 aplicações do questionário em doentes de uma unidade de cuidado de oncologia de Bogotá. Para o analise dos dados foi utilizado o programa estatístico SPSS 16.0, e se estabeleceu a confiabilidade com o modelo de alfa de Cronbach. Resultados: O estudo encontrou para o BCI um alfa de Cronbach global de 0,698. A dimensão de afrontamento ativo teve um valor de alfa de 0,663, e para a dimensão de afrontamento passivo, de 0,523. O questionário finalmente esta composto por 28 itens que avaliam duas dimensões: ativa e passiva, cada uma com sete estratégias de afrontamento. Conclusão: A versão em espanhol do BCI aplicado a mulheres com câncer da mama não sofreu alterações significativas na sua construção teórica, o que mostra que pode ser usado nesta população e naqueles onde foi validado o questionário, mas recomenda-se a continuar o análise psicométrica, aplicando-o à população colombiana com características similares para determinar os indicadores devalidade externa

Confiabilidade do questionário Brief COPE Inventory em versão em espanhol para avaliar estratégias de afrontamento em pacientes com câncer de mama

Introducción: El cáncer de seno no sólo se caracteriza por sus elevadas cifras estadísticas, sino por las cargas emocionales que conlleva y que desempeñan un papel importante en la enfermedad, pues estas se equilibran a través del proceso de afrontamiento mediante dos estrategias: una activa (relacionada con enfrentar la enfermedad de manera directa) y una pasiva (que trata de evitar y negar el conflicto que vive la mujer). Objetivo: Establecer la confiabilidad del cuestionario Brief COPE Inventory (BCI) en versión en español para evaluar estrategias de afrontamiento en mujeres con cáncer de seno. Metodología: Estudio psicométrico con 140 aplicaciones del cuestionario a pacientes en una unidad oncológica de Bogotá. Para el análisis se utilizó el programa estadístico SPSS 16.0, que determinó la confiabilidad a través del modelo alfa de Cronbach. Resultados: El estudio determinó para el BCI un alfa de Cronbach total de 0,698. Para la dimensión afrontamiento activo, el valor del alfa fue de 0,663, y para la dimensión afrontamiento pasivo, de 0,523. El cuestionario quedó conformado por 28 ítems que evalúan dos dimensiones: afrontamiento activo y afrontamiento pasivo, cada una con siete estrategias. Conclusión: El BCI en versión en español aplicado a mujeres con cáncer de seno no sufrió cambios significativos en su constructo teórico, lo que muestra que puede utilizarse en esta población, así como en las que ya fue validado; sin embargo, se recomienda continuar con el análisis psicométrico, aplicándolo a población colombiana para evaluar estrategias de afrontamiento con el fin de obtener indicadores de validez externa. Abstract Introduction: Breast cancer is not only characterized by their high statistical figures but also by emotional burdens that play an important role in the disease which are balanced through the process of coping, which is carried out usin various strategies, with two forms: An active form (associated with the disease face a direct), and a passive form (seeks to avoid conflict conflict and deny the patient lives). Objective: To establish the reliability of the questionnaire Brief COPE Invetory (BCI) in Spanish to asses coping strategies in women with breast cancer. Methodology: A psycometric questionnaire applications with 140 patients in an oncology unit in Bogotá was used to analyze the statistical program SPSS 16.0, determining the reliability by Cronbach's alpha model. Results: Showed the BCI in an Spanish Cronbach alpha of 0.698. For the active coping dimension value was 0.663, and for passive copin dimension 0.523. The questionnaire was composed of 28 items that assess two dimensions: coping an stand, each with seven coping startegies. Conclusion: The BCI in Spanish applied to women with breast cancer did not suffer significant changes in his theoretical construct, which shows that can be used in this population as well as the already approved and recommended to continue with the analysis applied to psychometric Colombian population to assess coping strategies in order to obtain indicators of external validity.Introduction: Breast cancer is not only characterized by their high statistical figures but also by emotional burdens that play an important role in the disease which are balanced through the process of coping, which is carried out usin various strategies, with two forms: An active form (associated with the disease face a direct), and a passive form (seeks to avoid conflict conflict and deny the patient lives). Objective: To establish the reliability of the questionnaire Brief COPE Invetory (BCI) in Spanish to asses coping strategies in women with breast cancer. Methodology: A psycometric questionnaire applications with 140 patients in an oncology unit in Bogotá was used to analyze the statistical program SPSS 16.0, determining the reliability by Cronbach's alpha model. Results: Showed the BCI in an Spanish Cronbach alpha of 0.698. For the active coping dimension value was 0.663, and for passive copin dimension 0.523. The questionnaire was composed of 28 items that assess two dimensions: coping an stand, each with seven coping startegies. Conclusion: The BCI in Spanish applied to women with breast cancer did not suffer significant changes in his theoretical construct, which shows that can be used in this population as well as the already approved and recommended to continue with the analysis applied to psychometric Colombian population to assess coping strategies in order to obtain indicators of external validity.Introdução: O câncer de mama não só está caracterizado por seu alto número de casos, senão também pela carga emocional, que desempenha um papel importante na doença, aspecto que é equilibrado através do processo de afrontamento realizado por os doentes, mediante duas estratégias que incluem: uma forma ativa (relacionada com o afrontamento da doença) e uma forma passiva (que tenta evitar e negar o conflito). Objetivo: Determinar a confiabilidade do questionário Brief COPE Inventory (BCI) em versão ao espanhol para avaliar as estratégias de afrontamento em mulheres com câncer de mama. Metodologia: Foi feito um estudo psicometrico com 140 aplicações do questionário em doentes de uma unidade de cuidado de oncologia de Bogotá. Para o analise dos dados foi utilizado o programa estatístico SPSS 16.0, e se estabeleceu a confiabilidade com o modelo de alfa de Cronbach. Resultados: O estudo encontrou para o BCI um alfa de Cronbach global de 0,698. A dimensão de afrontamento ativo teve um valor de alfa de 0,663, e para a dimensão de afrontamento passivo, de 0,523. O questionário finalmente esta composto por 28 itens que avaliam duas dimensões: ativa e passiva, cada uma com sete estratégias de afrontamento. Conclusão: A versão em espanhol do BCI aplicado a mulheres com câncer da mama não sofreu alterações significativas na sua construção teórica, o que mostra que pode ser usado nesta população e naqueles onde foi validado o questionário, mas recomenda-se a continuar o análise psicométrica, aplicando-o à população colombiana com características similares para determinar os indicadores devalidade externa

Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer’s disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer’s disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer’s disease

Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study

Background: People with Huntington's disease (HD) have been observed to have lower rates of cancers. Objective: To investigate the relationship between age of onset of HD, CAG repeat length, and cancer diagnosis. Methods: Data were obtained from the European Huntington's disease network REGISTRY study for 6540 subjects. Population cancer incidence was ascertained from the GLOBOCAN database to obtain standardised incidence ratios of cancers in the REGISTRY subjects. Results: 173/6528 HD REGISTRY subjects had had a cancer diagnosis. The age-standardised incidence rate of all cancers in the REGISTRY HD population was 0.26 (CI 0.22-0.30). Individual cancers showed a lower age-standardised incidence rate compared with the control population with prostate and colorectal cancers showing the lowest rates. There was no effect of CAG length on the likelihood of cancer, but a cancer diagnosis within the last year was associated with a greatly increased rate of HD onset (Hazard Ratio 18.94, p < 0.001). Conclusions: Cancer is less common than expected in the HD population, confirming previous reports. However, this does not appear to be related to CAG length in HTT. A recent diagnosis of cancer increases the risk of HD onset at any age, likely due to increased investigation following a cancer diagnosis

Clinical and genetic characteristics of late-onset Huntington's disease

Background: The frequency of late-onset Huntington's disease (&gt;59 years) is assumed to be low and the clinical course milder. However, previous literature on late-onset disease is scarce and inconclusive. Objective: Our aim is to study clinical characteristics of late-onset compared to common-onset HD patients in a large cohort of HD patients from the Registry database. Methods: Participants with late- and common-onset (30–50 years)were compared for first clinical symptoms, disease progression, CAG repeat size and family history. Participants with a missing CAG repeat size, a repeat size of ≤35 or a UHDRS motor score of ≤5 were excluded. Results: Of 6007 eligible participants, 687 had late-onset (11.4%) and 3216 (53.5%) common-onset HD. Late-onset (n = 577) had significantly more gait and balance problems as first symptom compared to common-onset (n = 2408) (P &lt;.001). Overall motor and cognitive performance (P &lt;.001) were worse, however only disease motor progression was slower (coefficient, −0.58; SE 0.16; P &lt;.001) compared to the common-onset group. Repeat size was significantly lower in the late-onset (n = 40.8; SD 1.6) compared to common-onset (n = 44.4; SD 2.8) (P &lt;.001). Fewer late-onset patients (n = 451) had a positive family history compared to common-onset (n = 2940) (P &lt;.001). Conclusions: Late-onset patients present more frequently with gait and balance problems as first symptom, and disease progression is not milder compared to common-onset HD patients apart from motor progression. The family history is likely to be negative, which might make diagnosing HD more difficult in this population. However, the balance and gait problems might be helpful in diagnosing HD in elderly patients

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