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In 2015, the World health organisation (WHO) released a press statement together with the International Agency for Research in Cancer (IARC) classifying processed meat as carcinogenic. Since then, research in this area has been focused on finding the underlying mechanism(s) responsible for the link between processed meat and the increased prevalence of colorectal cancer. One of the main hypotheses
BACKGROUND: Patients with severe aortic stenosis (AS) often have coronary artery disease. Both the aortic valve and the coronary disease influence the blood flow to the myocardium and its ability to respond to stress; leading to exertional symptoms. In this study, we aim to quantify the effect of severe AS on the coronary microcirculation and determine if this is influenced by any concomitant coro
MOTIVATION: Transcription factors (TFs) are key regulators of gene expression, and can activate or repress multiple target genes, forming regulatory units, or regulons. Understanding downstream effects of these regulators includes evaluating how TFs cooperate or compete within regulatory networks. Here we present RTNduals, an R/Bioconductor package that implements a general method for analyzing pa
Background: DYT6 dystonia can have an unpredictable clinical course and the result of deep brain stimulation (DBS) of the internal part of the globus pallidus (GPi) is known to be less robust than in other forms of autosomal dominant dystonia. Patients who had previous stereotactic surgery with insufficient clinical benefit form a particular challenge with very limited other treatment options avai
The mucopolysaccharidoses (MPS) are lysosomal storage disorders that result from defects in the catabolism of glycosaminoglycans. Impaired muscle, bone, and connective tissue are typical clinical features of MPS due to disruption of the extracellular matrix. Markers of MPS disease pathology are needed to determine disease severity and monitor effects of existing and emerging new treatments on dise
Background: Growing evidence suggests that pesticide exposure may influence respiratory health, but data in young children are very limited. We examined the association of prenatal pesticide exposure with lower respiratory tract infections (LRTIs) and wheeze at one year of age in children from the Infants' Environmental Health (ISA) study in Costa Rica. Methods: We measured seven pesticide metabol
Introduction: Dystonia-deafness syndrome is a distinct clinical presentation within the dystonia-spectrum. Although several genetic and acquired causes have been reported, etiology remains unknown in the majority of patients. Objectives: To describe two patients with dystonia-deafness syndrome due to a beta-actin gene mutation. Methods: We report on disease course, genetic testing, and management
In this paper, we describe a distinct clinical subtype of 3-methylglutaconic aciduria. 3-Methylglutaconic aciduria is a group of different metabolic disorders biochemically characterized by increased urinary excretion of 3-methylglutaconic acid. We performed biochemical and genetic investigations, including urine organic acid analysis, NMR spectroscopy, measurement of 3-methylglutaconyl-CoA hydrat
Joint Species Distribution Modelling (JSDM) is becoming an increasingly popular statistical method for analysing data in community ecology. Hierarchical Modelling of Species Communities (HMSC) is a general and flexible framework for fitting JSDMs. HMSC allows the integration of community ecology data with data on environmental covariates, species traits, phylogenetic relationships and the spatio-t
In clinical genetic diagnostics, it is difficult to predict whether genetic mutations that do not greatly alter the primary sequence of the encoded protein causing unknown functional effects on cognate proteins lead to development of disease. Here, we report the clinical identification of c.2038 T>C missense mutation in exon 18 of the human MLH1 gene and biochemically characterization of the p.Cys
Diabetic kidney disease is the leading cause of end-stage renal disease. Genetic factors have been suggested to contribute to its susceptibility. However, results from genetic studies are disappointing possibly because the role of glucose in diabetic kidney disease predisposed by epigenetic mechanisms has not been taken into account. Since thioredoxin-interacting protein (TXNIP) has been shown to
In 1825, an unnamed Stellenbosch official paused his tax collection duties to pen a poem in the margins of the opgaafrol. His verses capture the frustrations of colonial administration but the records themselves–annual tax censuses spanning 1685 to 1844–offer a far richer window into the Cape Colony’s social and economic history. First established by the Dutch East India Company and later maintain
Understanding the interplay between human brain structure and function is crucial to discern neural dynamics. This study explores the relation between brain structure and macroscale functional activity using subject-specific structural connectome eigenmodes, complementing prior work that focused on group-level models and geometry. Leveraging data from the Human Connectome Project, we assess accura
Differences between men and women in cognitive impairment and neurodegeneration are not yet well understood. Although sex differences in brain structure abnormalities, including white matter hyperintensities (WMH) and grey matter (GM) atrophy, have been associated with cognitive decline in the ageing population, the evidence is limited and inconclusive. Therefore, we explored sex differences in br
LONG-TERM depletion of ozone has been observed since the early 1980s in the Antarctic polar vortex, and more recently at mid-latitudes in both hemispheres, with most of the ozone loss occurring in the lower stratosphere1. Insufficient measurements of ozone exist, however, to determine decadal trends in ozone concentration in the Arctic winter. Several studies of ozone concentrations in the Arctic
Study region: The Paranapanema River Basin, located in southeastern Brazil, is characterized by a cascade of large hydropower plants regulated by a nationally coordinated dispatch system. This basin is a representative case of reservoir-regulated rivers in the country, where multiple dams interact to supply electricity while reshaping natural flow regimes. Study focus: This study examines hydropow
Our relationships with others structure many aspects of our lives, especially during important moments such as choosing an education, entering the workforce, forming partnerships or starting a family. While the influence of family and parenting has been widely studied, less is known about the role of non-family connections, such as neighbours. One reason is that the data needed to study these rela
In this study, a literature review was conducted to identify indicators that can be utilised to assess and visualise the potential of the geophysical environment to deliver geosystem services. The literature review identified 24 studies and 22 technical reports, resulting in a list of 75 geosystem services indicators for 23 geosystem services associated with the subsurface. Building upon these fin
