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Amyotrophic lateral sclerosis (ALS) is a complex disease that leads to motor neuron death. Despite heritability estimates of 52%, genome-wide association studies (GWASs) have discovered relatively few loci. We developed a machine learning approach called RefMap, which integrates functional genomics with GWAS summary statistics for gene discovery. With transcriptomic and epigenetic profiling of mot

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Spina bifida (SB) is a debilitating birth defect caused by multiple gene and environment interactions. Though SB shows non-Mendelian inheritance, genetic factors contribute to an estimated 70% of cases. Nevertheless, identifying human mutations conferring SB risk is challenging due to its relative rarity, genetic heterogeneity, incomplete penetrance, and environmental influences that hamper genome

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Objective: To prospectively assess anorectal dysfunction using patient-reported outcomes using validated questionnaires, manovolumetry and endoanal ultrasound before and 12 months after RC. Patients and methods: From 2014 to 2019, we prospectively included 44 patients scheduled for RC. Preoperatively and 12 months after surgery, 41 patients filled in a low anterior resection syndrome score (LARS-s

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Background: The use of antiarrhythmic drugs (AADs) in patients with chronic kidney disease (CKD) is complex because impaired renal clearance can cause increased drug levels, and risk of intolerance or adverse events. Due to the propensity for CKD to occur alongside atrial fibrillation/atrial flutter (AF/AFL), it is essential that AAD safety and efficacy are assessed for patients with CKD. Hypothes

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The prepositional ‘in’ and possessive pronouns, e.g., ‘my’ and ‘mine,’ in the context of attributions of mental states, such as “in my mind” or “in your mind,” threaten to confuse attempts to account for knowledge of other minds. This paper distinguishes proper from improper uses of such expressions. I will argue that proper use of the prepositional ‘in’ and possessive pronouns in the context of m

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Within a single region, it is possible to identify opposite changes in flow production. This proved to be the case for several basins in southeastern South America. It remains challenging to the causes this behavior and whether changes in streamflow will continue at current levels or decline in the coming decades. In this study, we used the Soil Water Assessment Tool to simulate monthly river disc

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Assessing the relative contribution of Land Use and Cover Changes (LUCC) and climate changes on runoff still represents a great challenge for water resources management. This issue is particularly critical for the Upper Paraná River Basin (UPRB), one of the most important basins in South America and responsible for most of the production of food, ethanol, and electricity generation in Brazil. In t

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Ethnic recognition and collective titling have since the second half of the 20th century been promoted as ways of compensating for historical injustices and countering the destructive effects of capitalist development. While holding promise of autonomy, territorial rights, and resource control, they have also been seen as political technologies governing, spatially tying identities to place, and i

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Fattigvårdens bibliska grund, kyrklig historia och utformning i dagens samhälle tecknas av Elinn Leo Sandberg i kapitel 11. Hur ska fattigdom, människor som är fattiga, bemötas i ett välfärdssamhälle och hur bör kyrkan agera?The biblical foundation, church history and design of the work with poverty in today's society is drawn by Elinn Leo Sandberg in chapter 11. How should poverty, people who are poor, be treated in a welfare society and how should the church act?

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AIMS: There are few cohorts of type 1 diabetes that follow individuals over more than half a century in terms of health outcomes. The aim of this study was to examine associations between type 1 diabetes, diagnosed before age 18, and long-term morbidity and mortality, and to investigate whether cognitive ability plays a role in long-term morbidity and mortality risk.METHODS: In a Swedish cohort, 1

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Background Creating new therapies often involves drug companies paying healthcare professionals and institutions for research and development (R&D) activities, including clinical trials. However, industry sponsorship can create conflicts of interests. We analysed approaches to drug company R&D payment disclosure in European countries and the distribution of R&D payments at the country

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The fragmentation properties of jets containing b-hadrons are studied using charged B mesons in 139 fb−1 of pp collisions at s√ = 13 TeV, recorded with the ATLAS detector at the LHC during the period from 2015 to 2018. The B mesons are reconstructed using the decay of B± into J/ψK±, with the J/ψ decaying into a pair of muons. Jets are reconstructed using the anti-kt algorithm with radius parameter

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α-synuclein is an intrinsically disordered protein implicated in synaptic vesicle trafficking at the synapse. Accumulation of α-synuclein in the form of amyloid deposits coincides with the loss of dopaminergic neurons in Parkinsons disease. These deposits, referred to as Lewy Bodies, have been shown to contain membrane lipids together with the α-synuclein amyloid fibrils and other proteins. It was

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In ordinary public rooms, such as classrooms and offices, an absorbent ceiling is the typical first acoustic action. This treatment provides a good acoustic baseline. However, an improvement of specific room acoustic parameters, operating for specific frequencies, can be needed. It has been seen that diffusing elements can be effective additional treatment. In order to choose the right design, pla

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Introduction: Academic achievement (AA) is associated with smoking rates. Can we determine the degree to which this relationship is likely a causal one? Methods: We predict smoking in male conscripts (mean age 18.2) assessed from 1984 to 1991 (N = 233 248) and pregnant females (mean age 27.7) receiving prenatal care 1972-1990 (N = 494 995) from AA assessed in all students at 16. Instrumental varia