Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B

Dominantly inherited GAA repeat expansions in FGF14 are a common cause of spinocerebellar ataxia (GAA-FGF14 ataxia; spinocerebellar ataxia 27B). Molecular confirmation of FGF14 GAA repeat expansions has thus far mostly relied on long-read sequencing, a technology that is not yet widely available in clinical laboratories. We developed and validated a strategy to detect FGF14 GAA repeat expansions using long-range PCR, bidirectional repeat-primed PCRs, and Sanger sequencing. We compared this strategy to targeted nanopore sequencing in a cohort of 22 French Canadian patients and next validated it in a cohort of 53 French index patients with unsolved ataxia. Method comparison showed that capillary electrophoresis of long-range PCR amplification products significantly underestimated expansion sizes compared to nanopore sequencing (slope, 0.87 [95% CI, 0.81 to 0.93]; intercept, 14.58 [95% CI, − 2.48 to 31.12]) and gel electrophoresis (slope, 0.84 [95% CI, 0.78 to 0.97]; intercept, 21.34 [95% CI, − 27.66 to 40.22]). The latter techniques yielded similar size estimates. Following calibration with internal controls, expansion size estimates were similar between capillary electrophoresis and nanopore sequencing (slope: 0.98 [95% CI, 0.92 to 1.04]; intercept: 10.62 [95% CI, − 7.49 to 27.71]), and gel electrophoresis (slope: 0.94 [95% CI, 0.88 to 1.09]; intercept: 18.81 [95% CI, − 41.93 to 39.15]). Diagnosis was accurately confirmed for all 22 French Canadian patients using this strategy. We also identified 9 French patients (9/53; 17%) and 2 of their relatives who carried an FGF14 (GAA)≥250 expansion. This novel strategy reliably detected and sized FGF14 GAA expansions, and compared favorably to long-read sequencing

Desempenho ocupacional das famílias cuidadoras de pessoas com transtornos mentais atendidas em dispositivo de atenção psicossocial

With the process of psychiatric institutionalization, treatment of people with mental disorders, characterized by long before psychiatric hospitalizations, chronicity and social exclusion, went on to defend the humanized care, the integration of the individual in the family and society. The family of the person with a mental disorder, for a considerable time was excluded from the assistance provided to his family. He is currently an important partner of care, since most people who were treated in closed institutions, today live daily with their caregivers, at home. However, families often are not prepared to act as caretakers of close family members with mental disorders, and thus experience a context of overloads in everyday life. It is not uncommon the fact they have not with satisfactory support to deal with the complex situation of caring for a relative who needs care at length in daily life. This research aims to describe the areas of occupational performance (work, rest and sleep, leisure and social participation), the caregivers families before and after the mental illness of his family and the repercussions of this fact in daily life and living conditions of family caregivers; Identify among the areas of occupational performance (work, rest and sleep, leisure and social participation), those considered most important for family caregivers, and the strategies used by them for the development of these areas, with a view to changes in their daily lives and their living conditions. This is a qualitative, critical and reflective study. Approved by the Research Ethics Committee (CEP) of the University Hospital Lauro Wanderley the Federal University of Paraíba, in the period from July 2014 to February 2015. The instrument for data collection was semi-structured interviews. Data collection took place in October and November 2014, after receiving the assent of the CEP. The material was subjected to the analysis of data according to Minayo (2008), following three methodological steps: pre-analysis, material exploration, processing of data and interpretation. The research findings revealed that with regard to the areas of occupational performance (work, rest and sleep, leisure and social participation) of family before becoming caregivers, four of them worked before the mental illness of their relatives and family, by the will of spouse, only performed housework. With regard to rest and sleep, the five family caregivers, two reported not enjoy a good rest and sleep before getting sick of your family, a fact surely occasioned negative impact on the dynamics of your everyday life . The other three caregivers had a good rest and sleep. It was identified that the leisure of the caregivers in this study, before the mental illness of the family, was designed and related to diverse aspects. The five family caregivers interviewed reported an active social participation, whether in church, community groups, in the family. With regard to the areas of occupational performance after mental illness the family, all family caregivers have had to stop work activities outside the home to care for relatives with mental disorders. The rest and sleep of them had to suffer. The leisure and social participation of family caregivers were determined by dynamic behavior of their relatives with mental disorders. With regard to the areas of occupational performance considered the most important by family caregivers, they elected two: rest and sleep and social participation. With the completion of this study, we can see the relevance of the intervention of health workers, because through dialogue and more systematic follow-up to these families, you can help minimize the impact of a life in organized care and overloads generated by these care and so contribute to improving the quality of life of families and caregivers also of users with mental disorders.Com o processo de desinstitucionalização psiquiátrica, o tratamento das pessoas com transtornos mentais antes caracterizados por longas internações psiquiátricas, cronificação e exclusão social, passou a defender o cuidado humanizado, a reinserção do indivíduo na família e na sociedade. A família da pessoa com transtorno mental, durante tempo considerável foi excluída da assistência prestada ao seu familiar. Atualmente é uma importante parceira do cuidado, pois muitas pessoas que eram tratadas em instituições fechadas, hoje convivem diariamente com seus cuidadores, no domicílio. Porém, as famílias, muitas vezes, não estão preparadas para atuar como cuidadoras desses familiares com transtornos mentais, e assim vivenciam um contexto de sobrecargas no cotidiano. Não é raro o fato de não contarem com suporte satisfatório para lidar com a complexa situação de cuidar de um familiar, o qual necessita de cuidados durante um tempo considerável no cotidiano. Esta pesquisa tem como objetivo descrever as áreas de desempenho ocupacional (trabalho; descanso e sono; lazer e participação social), das famílias cuidadoras, antes e após o adoecimento mental dos seus familiares e as repercussões desse fato no cotidiano e nas condições de vida dos familiares cuidadores; Identificar dentre as áreas de desempenho ocupacional (trabalho; descanso e sono; lazer e participação social), as que são consideradas mais importantes para os familiares cuidadores, e as estratégias utilizadas por eles para o desenvolvimento dessas áreas, com vistas a mudanças no seu cotidiano e nas suas condições de vida. Trata-se de estudo qualitativo, crítico e reflexivo. Aprovado pelo Comitê de Ética e Pesquisa (CEP) do Hospital Universitário Lauro Wanderley da Universidade Federal da Paraíba, desenvolvido no período de julho de 2014 a fevereiro de 2015. O instrumento para coleta de dados foi a entrevista semiestruturada. A coleta de dados aconteceu nos meses de outubro e novembro de 2014, após recebimento do parecer favorável do CEP. O material foi submetido a análise de dados segundo Minayo (2008), seguindo três passos metodológicos: pré-análise, exploração do material, tratamento dos dados obtidos e interpretação. Os achados da pesquisa revelaram que no tocante às áreas de desempenho ocupacional (trabalho, descanso e sono, lazer e participação social) dos familiares antes de se tornarem cuidadores, quatro delas trabalhavam antes do adoecimento mental de seus familiares e uma familiar, por vontade do esposo, só realizava trabalhos domésticos. No que diz respeito ao descanso e sono, das cinco cuidadoras familiares, duas relataram não desfrutarem de um bom descanso e sono, antes do processo de adoecimento do seu familiar, fato este, com certeza, que ocasionava repercussões negativas na dinâmica de seu dia a dia. As outras três cuidadoras apresentavam bom descanso e sono. Identificou-se que o lazer das cuidadoras desse estudo, antes do adoecimento mental do familiar, era concebido e relacionado a aspectos diversificados. As cinco cuidadoras familiares entrevistadas relataram uma participação social atuante, seja na igreja, nos grupos comunitários e na família. No que diz respeito às áreas de desempenho ocupacional após o adoecimento mental do familiar, todas as cuidadoras familiares tiveram de interromper as atividades de trabalho fora de casa para cuidar de familiares com transtornos mentais. O descanso e sono delas apresentavam-se prejudicados. O lazer e a participação social das cuidadoras familiares eram determinados pela dinâmica de comportamento dos seus familiares com transtornos mentais. No concernente às áreas de desempenho ocupacional consideradas as mais importantes pelas cuidadoras familiares, estas elegeram duas: descanso e sono e participação social. Com a realização desse estudo, percebe-se a relevância da intervenção dos trabalhadores da saúde, pois mediante o diálogo e acompanhamento mais sistemático a essas famílias, pode-se contribuir para minimizar o impacto de uma vida organizada em cuidados e sobrecargas geradas por esses cuidados e assim colaborar para a melhoria da qualidade de vida das famílias cuidadoras e também dos usuários com transtornos mentais

Most Hospital-Acquired Complications among Older Adults Are Associated with Frailty: The South-Western Sydney Frailty and Hospital-Acquired Complications Study

Background: People live longer, and frailty has become an important problem in the acute hospital setting. Increasingly the association between frailty and hospital-acquired complications has been reported. However, the overall burden of frailty in this setting has not been described. Therefore, we undertook this study to describe the association between frailty and the risk of hospital-acquired complications among older adults across our five acute hospitals and to estimate the overall burden of frailty attributable to these complications. Methods: Consecutive admissions among women and men aged ≥ 65 years across our local health district’s five acute hospitals, between January 2010 and December 2020, were included to investigate the association between the number of cumulative frailty deficit items and hospital-acquired complications and infections. The numbers of cumulative frailty deficits are presented in four groups (0–1 item, 2 items, 3 items, and 4–13 items). Individual events such as falls, delirium, pressure injuries, thromboembolism, malnutrition, and multiple types of infections are also presented. The overall burden of frailty was estimated using a population-attributable-risk approach. Results: During the study period there were 4,428 hospital-acquired complications, among 120,567 older adults (52% women). The risk of any hospital-acquired complication (HAC) or any hospital-acquired infection (HAI) increased as the cumulative number of frailty deficits increased. For the 0–1 deficit item group versus the 4–13 items group, the risk of any HAC increased from 5.5/1000 admissions to 80.0/1000 admissions, and for any HAI these rates were 6.2/1000 versus 58.2/1000, respectively (both p-values \u3c 0.001). The 22% (27,144/120,567) of patients with 3 or more frailty deficit items accounted for 63% (2,774/4,428) of the combined hospital-acquired complications and infections. We estimated that the population-attributable risks of any hospital-acquired complication or infection were 0.54 and 0.47, respectively. Conclusion: We found that an increasing number of cumulative frailty deficit items among older patients are associated with a higher risk of hospital-acquired complications or infections. Importantly, frail older adults account for most of these adverse events