5,069 research outputs found

    Aging in Place in Rural Nebraska: Homecare Worker Cooperatives

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    In 2022, the Nebraska Cooperative Development Center (NCDC), in partnership with the Northwest Cooperative Development Center of Washington state, introduced a six-week Homecare Worker Cooperative Academy designed to take caregivers through the worker cooperative development process. Topics covered by the academy included democracy in the workplace, business basics, marketing and member engagement. The impetus for the academy was the realization that Nebraska — and the U.S. as a whole — are facing a potential elder care crisis

    Further supporting evidence for REEP1 phenotypic and allelic heterogeneity.

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    Heterozygous mutations in REEP1 (MIM #609139) encoding the receptor expression-enhancing protein 1 (REEP1) are a well-recognized and relatively frequent cause of autosomal dominant hereditary spastic paraplegia (HSP), SPG31.1 REEP1 localizes in the mitochondria and endoplasmic reticulum (ER) and facilitates ER-mitochondria interactions.2 In addition to the HSP phenotype, REEP1 has been associated with an autosomal dominant spinal type of Charcot-Marie-Tooth disease in 2 families.3 More recently, a patient with homozygous REEP1 mutation with a much more severe phenotype akin to spinal muscular atrophy with respiratory distress type 1 (SMARD1) was reported.4 In this report, we present a patient with a homozygous mutation in REEP1 manifesting a severe congenital distal spinal muscular atrophy (SMA) with diaphragmatic paralysis, expanding the phenotype from mild autosomal dominant HSP through to severe recessive distal SMA pattern

    Bringing cities to life: The relationship between urban greenspace and mental wellbeing

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    This thesis aimed to deepen understanding of the potential health benefits of urban greenspace, by identifying associations between different greenspace characteristics and mental wellbeing. A systematic literature review revealed that, while local area greenspace is adequately associated with life satisfaction, evidence for other characterisations of greenspace (type, accessibility, etc) is less sufficient. Although findings are currently not specific enough to guide planning decisions, there is a need to examine multidimensional wellbeing measures and greenspace in detail. A first study of local area greenspace and mental wellbeing in England, using data from 31,000 individuals in the UK Household Longitudinal Study survey and greenspace information (Generalised Land Use Database), found that Ordinary Least Squares associations between local prevalence of greenspace and multidimensional wellbeing could not be detected at census level, perhaps due to the imposition of arbitrary boundaries. More detailed post code-level data was obtained for 25,000 London residents completing the Annual Population Survey 2012-2015, with greenspace shapefiles from the Greenspace Information for Greater London group. The amount of greenspace within a 300m buffer of individuals homes was positively and significantly associated with hedonic and eudaimonic wellbeing. Geographically Weighted Regression models, addressing spatial clusters within the data, revealed slight variation in the strength of these associations across the study space. The final study, which characterised greenspace by type and accessibility on foot, found natural greenspace to be positively associated with hedonic wellbeing, but not eudaimonic wellbeing; associations with other types of greenspace were not significant. Spatial Error models allowed second-order processes within the structure of the data to be captured. These contributions are the first to examine nature planning recommendations for potential associations with mental wellbeing, expanding the current knowledge of greenspace design. Informed design should consider both the characteristics of the greenspace and local residents, to benefit the mental wellbeing of individuals and society as a whole

    Expanding Cooperatives in Nebraska

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    Nebraska has a history of cooperatives in agriculture. The most common types are agricultural marketing and supply cooperatives. The Nebraska Cooperative Council map highlights that there are over 400 cooperative locations in Nebraska. In addition to agricultural cooperatives, such as Ag Processing, Inc. and Producers Livestock Marketing Association, there are also cooperative credit unions and the Nebraska Rural Radio Association

    Late-onset Lafora disease with prominent parkinsonism due to a rare mutation in EPM2A

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    Lafora disease (LD) is an autosomal recessive form of progressive myoclonic epilepsy that is caused by mutations in EPM2A, encoding laforin, and NHLRC1 (EPM2B), encoding malin.(1) LD is classically described with onset in early teenage years. Patients develop myoclonus, epilepsy, visual hallucinations, and psychosis. Dementia is a prominent feature and often occurs in the late teenage years. LD typically progresses quickly, and patients become bedridden and dependent within 10 years of symptom onset, with life expectancy in the early 20s.(2,3) Only a small number of late-onset cases of LD have been described. Even then, these so-called late-onset cases have typically presented in the 20s, with dementia occurring in the early 30s. We describe a patient with extremely late onset and extended survival with prominent parkinsonism due to a novel EPM2A variant

    Whole-genome sequencing

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    The costs of whole-genome sequencing have rapidly decreased, and it is being increasingly deployed in large-scale clinical research projects and introduced into routine clinical care. This will lead to rapid diagnoses for patients with genetic disease but also introduces uncertainty because of the diversity of human genomes and the potential difficulties in annotating new genetic variants for individual patients and families. Here we outline the steps in organising whole-genome sequencing for patients in the neurology clinic and emphasise that close liaison between the clinician and the laboratory is essential
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