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Fluid biomarkers are revolutionizing the diagnosis and management of neurodegenerative diseases by enabling earlier diagnosis and disease monitoring. In particular, blood-based biomarkers have emerged as a minimally invasive and scalable alternative to cerebrospinal fluid analysis. Recent advances in blood-based tau biomarkers have shown high diagnostic accuracy for Alzheimer’s disease (AD). Other
One of the key ecological processes affected by climate change is plant carbon uptake. However, there is substantial uncertainty about how plant carbon uptake will respond to warming in mountain ecosystems, which are known for sharp temperature gradients and abrupt shifts in vegetation structure. Specifically, we lack an understanding of whether these response trajectories over time will be linear
The quantification and characterization of circulating immune cells provide key indicators of human health and disease. To identify the relative effects of environmental and genetic factors on variation in the parameters of innate and adaptive immune cells in homeostatic conditions, we combined standardized flow cytometry of blood leukocytes and genome-wide DNA genotyping of 1,000 healthy, unrelat
Accurate diagnosis of rare inherited anaemias is challenging, requiring a series of complex and expensive laboratory tests. Targeted next-generation-sequencing (NGS) has been used to investigate these disorders, but the selection of genes on individual panels has been narrow and the validation strategies used have fallen short of the standards required for clinical use. Clinical-grade validation o
The intronic SNP rs7903146 in the T-cell factor 7-like 2 gene (TCF7L2) is the common genetic variant most highly associated with Type 2 diabetes known to date. The risk T-allele is located in an open chromatin region specific to human pancreatic islets of Langerhans, thereby accessible for binding of regulatory proteins. The risk T-allele locus exhibits stronger enhancer activity compared to the n
Background Although human leukocyte antigen (HLA) DQ and DR loci appear to confer the strongest genetic risk for type 1 diabetes, more detailed information is required for other loci within the HLA region to understand causality and stratify additional risk factors. The Type 1 Diabetes Genetics Consortium (T1DGC) study design included high-resolution genotyping of HLA-A, B, C, DRB1, DQ, and DP loc
Maturity-onset diabetes of the young (MODY) is a heterogeneous single gene disorder characterized by non–insulin-dependent diabetes, an early onset and autosomal dominant inheritance. Mutations in six genes have been shown to cause MODY. Approximately 15–20% of families fitting MODY criteria do not have mutations in any of the known genes. These families provide a rich resource for the identificat
Hypomethylating agents (HMAs) are frontline therapies for Myelodysplastic Neoplasms (MDS) and Acute Myeloid Leukemia (AML). However, acquired resistance and treatment failure are commonplace. To address this, we perform a genome-wide CRISPR-Cas9 screen in a human MDS-derived cell line, MDS-L, and identify TOPORS as a loss-of-function target that synergizes with HMAs, reducing leukemic burden and i
The SCHOLAR-2 retrospective study highlighted poor overall survival (OS) with standard of care (SOC) regimens among patients with relapsed/refractory (R/R) mantle cell lymphoma (MCL) who failed a covalent Bruton tyrosine kinase inhibitor (BTKi). In the ZUMA-2 single-arm trial, brexucabtagene autoleucel (brexu-cel; autologous anti-CD19 CAR T-cell therapy) demonstrated high rates of durable response
INTRODUCTION: We examined whether sex modifies the association between APOE ε2 and cognitive decline in two independent samples. METHODS: We used observational data from cognitively unimpaired non-Hispanic White (NHW) and non-Hispanic Black (NHB) adults. Linear mixed models examined interactive associations of APOE genotype (ε2 or ε4 carrier vs. ε3/ε3) and sex on cognitive decline in NHW and NHB p
The Sardinian dhole (Cynotherium sardous) was an iconic and unique canid species that was endemic to Sardinia and Corsica until it became extinct at the end of the Late Pleistocene. Given its peculiar dental morphology, small body size, and high level of endemism, several extant canids have been proposed as possible relatives of the Sardinian dhole, including the Asian dhole and African hunting doThe Sardinian dhole (Cynotherium sardous)1 was an iconic and unique canid species that was endemic to Sardinia and Corsica until it became extinct at the end of the Late Pleistocene.2-5 Given its peculiar dental morphology, small body size, and high level of endemism, several extant canids have been proposed as possible relatives of the Sardinian dhole, including the Asian dhole and African huntin
OBJECTIVE: In a multicenter cohort of probable dementia with Lewy bodies (DLB), we tested the hypothesis that β-amyloid and tau biomarker positivity increases with age, which is modified by APOE genotype and sex, and that there are isolated and synergistic associations with the clinical phenotype. METHODS: We included 417 patients with DLB (age 45-93 years, 31% women). Positivity on β-amyloid (A+)
PURPOSE: The first interim analysis of the phase III, randomized, placebo-controlled TITAN study showed that apalutamide significantly improved overall survival (OS) and radiographic progression-free survival in patients with metastatic castration-sensitive prostate cancer (mCSPC) receiving ongoing androgen deprivation therapy (ADT). Herein, we report final efficacy and safety results after unblin
Mantle cell lymphoma (MCL) after relapse is associated with poor prognosis. No standard of care exists and available evidence for treatments is limited, particularly in patients who fail Bruton tyrosine kinase inhibitor (BTKi) therapy. This multicentre retrospective chart review study, SCHOLAR-2, addresses this knowledge gap and reports on data collected from 240 patients with relapsed/refractory
Syftet med den här uppsatsen är att ur ett civilrättsligt perspektiv undersöka hur de svenska civilrättsliga reglerna skyddar någon som riskerar att utsättas för barn- och tvångsäktenskap, samt olika myndigheters agerande och förhållningssätt när de möter någon som befinner sig i riskzonen för påtvingade äktenskap. En stor del av de äktenskap som ingås mot någons vilja berör parter som bor i oli
Syftet med denna uppsats är att utreda rättsläget för barn som häktas och därefter diskutera hur det förhåller sig till barns särskilda skyddsvärde i straff- och straffprocessrätten. Jag diskuterar och reflekterar även över lagstiftningens eventuella brister, behov av förändring och förbättring samt hur förändringar och förbättringar i sådana fall skulle kunna te sig lämpliga utifrån ett barnrättsThe purpose of this thesis is to investigate the legal position for children being detained and discussing how that relates to children’s particular protective value in penalty- and criminal procedure law. I am also discussing and reflecting on the legislation’s eventual flaws, need of change and improvement and how changes and improvements in those cases could be appropriate from a perspective of
The Swedish Government has recently initiated additional permit-free buildings with the aim to simplify the Planning and Building act, reduce the housing shortage and increase a property owner’s proprietorship. According to the amendment it is possible to construct a complementary home with the size of 25 square meters in close proximity to an existing house. This building is known as an Attefall
Den svenska sexualbrottslagstiftningen har genomgått stora förändringar över åren. Våldtäktsbestämmelsen har på olika sätt utvidgats och tvångskravet har sänkts med tiden. Syftet har delvis varit att förstärka och tydliggöra rätten till sexuellt självbestämmande och sexuell integritet. Detta är två begrepp som har varit återkommande i sexualbrottslagstiftningen under senare år. Trots detta har tvåThe Swedish legislation on sexual offences has been subject to major changes over the years. The provision of rape has in various ways been extended and the coercion requirement has been reduced over time. The purpose of the changes has partly been to strengthen and clarify the sexual integrity and self-determination – two concepts that have been recurring in the legislation on sexual offences in
On the July 1, 2020, a new framework of rules regarding reportable arrangements was introduced in Sweden and at the same time a reporting obligation to give information about reportable arrangements to the Swedish Tax Agency (STA) was introduced. For an arrangement to be reportable it must be cross-border and include at least one hallmark. A hallmark is a characteristic in an arrangement which is
