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In rare disease research, sharing of individual health data is essential for advancing diagnostics and therapies, requiring robust and ethically sound informed consent processes. Within the Genomic Medicine Sweden Rare Diseases (GMS-RD) multicenter study, an electronic informed consent (eConsent) platform was developed to support data sharing, facilitate participation and enable research engagemen
BACKGROUND: Postmortem MRI has opened-up avenues to study brain structure at ultra high-resolution revealing details not possible to observe with in vivo MRI. Here, we present a novel package (purple-mri) which performs tissue segmentation, anatomical parcellation and spatial normalization of postmortem MRI. Additionally, we provide a framework to perform point-wise surface-based group-level studi
Genotype–phenotype associations can be context-dependent and dynamic in nature leading to heterogeneity of genetic effects across different parts of the phenotype distribution. Quantile regression, an alternative to linear regression for continuous phenotypes, is particularly well suited for detecting and characterizing heterogeneous genotype–phenotype associations. Here, we propose a computationa
Swedish Sign Language [svenskt teckenspråk, STS] has often been described as being the first officially recognised sign language in the world, passed into law in 1981. This was a parliamentary decision that later led to the provision of bimodal-bilingual education and the keeping of a separate school system for deaf students. However, today, STS is not granted the same rights as the five declared
BACKGROUND: A considerable portion of patients with amnestic mild cognitive impairment (aMCI) have negative amyloid-β (Aβ) biomarkers and are therefore unlikely to have Alzheimer's disease (AD). Potential causes of cognitive decline in this heterogeneous group include limbic-predominant age-related TDP-43 encephalopathy (LATE), cardio/cerebrovascular diseases, primary age-related tauopathy (PART),
Acquisition of complement regulators is a virulence strategy used by nontypeable Haemophilus influenzae (NTHi) to evade complement-mediated killing by the host. The major outer membrane protein of NTHi, P5, binds C4b-binding protein and factor H to promote bacterial serum resistance. We show that P5 also binds vitronectin, which inhibits the formation of the membrane attack complex at the terminal
BACKGROUND: Dementia with Lewy Bodies (DLB) is often misdiagnosed or conflated with Alzheimer's Disease (AD) due to overlapping clinical presentations and neuropathological features. The presence of AD-like features correlates with accelerated cognitive decline and a worse overall prognosis. Compared to AD, studies suggest that amyloid uptake in DLB may spare the occipital lobe. This project aims
BACKGROUND: The heterogeneity of Alzheimer's disease (AD) and lack of well-validated markers of non-AD factors (e.g. TDP-43) present a substantial challenge for therapeutics. Our prior work showed discordance between tau (T) and neurodegeneration (N) identified non-AD factors in AD through multi-modality imaging. Here we tried a simplified approach using plasma ptau217 and medial temporal lobe (MT
BACKGROUND: Tau pathology distribution in Alzheimer's disease (AD) shows individual spatial heterogeneity, including hemispheric asymmetry. The mechanisms underlying this asymmetry remain unclear. This study explored whether tau asymmetry is linked to reduced inter-hemispheric connectivity, potentially restricting tau spread, or reflects asymmetry in amyloid-beta (Aβ) distribution, indicating hemi
BACKGROUND: Variability of brain amyloid burden across individuals suggests that biological factors may play a role. This study investigates the association between polygenic risk scores (PRS) and amyloid burden in a preclinical Alzheimer's disease (AD) cohort to identify genetic determinants. METHOD: PRS for AD susceptibility (Kunkle et al., 2019) and for CSF-Aβ42 and ptau181 (Jansen et al., 2022
Arsenic contamination in soil and water poses significant health risks globally through contaminated crops. 1,2,3 Modern cultivated rice ( Oryza sativa ), particularly the subspecies japonica , accumulates high levels of arsenic. 1,3,4,5,6 This may possibly result from unintended physiological and genomic changes during rice domestication, which have significantly altered traits such as plant arch
BACKGROUND: Brain function emerges from structural pathways enabling neural connectivity and communication. However, the extent of structural-functional coupling varies across brain regions, and its alteration in aging and early Alzheimer's disease (AD) remains unclear. This study investigated variations in coupling associated with age, sex, and amyloid burden in a cohort of older adults without d
This chapter examines the localized ambivalence surrounding the use of race in contemporary biomedicine: how race is constructed as both valid/relevant and invalid/irrelevant in a specific national setting. It is based on interviews with twenty-six expert professionals in Sweden who are directly or indirectly involved in clinical pharmaceutical research, including clinical researchers, research nu
Successful translation requires multiple protein factors with diverse specific activities. Initiation of translation is regarded as the most tightly regulated step of this process, controlled by numerous factors. Among these is the eukaryotic initiation factor 4F (eIF4F), a protein complex composed of three subunits: the cap-binding protein eIF4E, the RNA helicase eIF4A, and the scaffolding protei
DNA replication relies on precise coordination between proteins, including the sliding clamp proliferating cell nuclear antigen (PCNA), which encircles DNA to interact with key players in replication and repair. While biochemical studies have demonstrated interactions between PCNA and DNA polymerases δ and ε during DNA synthesis, the functional role of the Pol ε–PCNA interaction in vivo, particula
Fler än 800 000 svenskar har privata sjukvårdsförsäkringar, men effekten detta har på svensk sjukvård och jämlikhet går inte att följa i svenska register.
When the polar vortex meanders and shifts towards the equator, air masses from the tropics and subtropics can be transported towards the pole in so-called tropical-subtropical streamers. These large-scale structures are areas of low potential vorticity and high pressure, containing dry air with high ozone mixing ratios. The presence of these streamers can also be seen in changes in stratospheric o
Uronate isomerase (EC 5.3.1.12; URI) catalyzes uronate sugar interconversion, a key step in bacterial metabolism, yet its reaction mechanism remains poorly understood. This study delineates the detailed mechanism for the isomerization of d-glucuronate to d-fructuronate catalyzed by a Zn2+-dependent URI enzyme (from Bacillus halodurans). Using quantum mechanical (QM) cluster calculations, three mec
Antimicrobial peptides are widely investigated in the literature, but their mechanism of action and effects on lipid membranes are not completely understood from a physicochemical perspective. In this study, we employed a bioinspired mastoparan from wasp venom, mast-MO, and characterized its interactions with model lipid membranes, either as a supported lipid bilayer or as free-standing vesicles i
