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Background: TMEM199 deficiency was recently shown in four patients to cause liver disease with steatosis, elevated serum transaminases, cholesterol and alkaline phosphatase and abnormal protein glycosylation. There is no information on the long-term outcome in this disorder. Results: We here present three novel patients with TMEM199-CDG. All three patients carried the same set of mutations (c.13-1
Background: Recent analyses in Greenlandic Inuit identified six genetic polymorphisms (rs74771917, rs3168072, rs12577276, rs7115739, rs174602 and rs174570) in the fatty acid desaturase gene cluster (FADS1-FADS2-FADS3) that are associated with multiple metabolic and anthropometric traits. Our objectives were to systematically assess whether dietary polyunsaturated fatty acid (PUFA) intake modifies
Filma snabbt som blixten Att filma en kula som flyger genom luften är enkelt med dagens kommersiella höghastighetskameror. Men tänk dig att du vill filma en ljuspuls eller en kaotisk kemisk reaktion som är över på mindre än en biljondel av en sekund. På de tidsskalorna har vanliga digitala kamerasensorer inte en chans, för de är helt enkelt för långsamma. För att komma förbi hastighetsbegränsningeThis study presents the development and validation of a new, compact architecture for ultrafast videography using the Frequency Recognition Algorithm for Multiple Exposure (FRAME). Traditional FRAME-systems often have high mechanical complexity, long optical path lengths, and are limited to one-dimensional (1D) informational extraction of refractive index gradients when using Schlieren imaging. Th
Tänk på hur kombinationen av ingredienser och matlagningstekniker påverkar smaken på din fredagstacos och hur lång tid den tar att laga och bygga ihop. På samma sätt kommer en produkts design att påverka dess funktion, tillverkningstid och monteringstid. Ju mer komplicerad design, desto längre och dyrare kommer det att bli tillverka produkten. Därför ligger det i varje företags intresse att förenkThis project aimed to redesign a ratcheting tool used for industrial door installation and to evaluate whether selected design for manufacturing and assembly methods were beneficial for the design development. The tool design went through three design iterations following a general concept development methodology, with the aim to minimise the amount of parts and unique manufacturing methods and
The healthfulness of a dietary pattern is not merely measured in its content of nutrients, but also of the diversity of the ingredients present. The methods of analyzing dietary diversity, such as Minimum Dietary Diversity for Women (MDD-W) index and Dietary Species Richness (DSR), have been developed in the last decades, used to capture different forms of dietary diversity. Increased dietary dive
Uganda, along with a number of other African states, is a state struggling with the task of bringing together a vast range of ethnic minority groups into one nation-state decided by geographical borders drawn by colonial masters Britain during imperialism. The effects of these colonial decisions and policies are widely known to having plagued the native population during the course of history. Thi
The structural evolution of molecular hydrogen H2 under multi-megabar compression and its relation to atomic metallic hydrogen is a key unsolved problem in condensed-matter physics. Although dozens of crystal structures have been proposed by theory1, 2, 3–4, only one, the simple hexagonal-close-packed (hcp) structure of only spherical disordered H2, has been previously confirmed in experiments5. T
Objective. Despite the growing interest in understanding the role of triggers of paroxysmal atrial fibrillation (AF), solutions beyond questionnaires to identify a broader range of triggers remain lacking. This study aims to investigate the relation between triggers detected in wearable-based physiological signals and the occurrence of AF episodes. Approach. Week-long physiological signals were co
Intracellular delivery is crucial in biological and medical studies. Although many molecular tools have been created for cell-based gene therapies, it remains challenging to introduce external molecules into cells. As one of the most popular non-viral transfection methods, electroporation induces transient pores in the cell membrane by applying an external electric field. Unsatisfactory transfecti
BACKGROUND: School principals face a demanding work situation that puts them at risk for stress-related poor mental health. Ideally, preventive actions should be based on knowledge about the underlying notions that motivate action. However, knowledge about prevention areas and suitable initiatives for school principals is scarce or lacking, leaving key stakeholders without the overview necessary f
We develop a cognitive evaluation schema for analysing the diversity and nuances of visuospatial complexity and multimodal interactions encountered in naturalistic everyday driving conditions. The proposed schema is based on a finegrained empirical analysis of real-world everyday driving situations involving stakeholders such as drivers, pedestrians, cyclists. Our method involves a semantic analys
The separation of multiple transmit waveforms with time and frequency synchronization constitutes a considerable challenge for multiple-input multiple-output (MIMO) synthetic aperture radar (SAR) systems. It is well-known that aliased signal returns may be separable by digital beamforming (DBF) on receive in elevation. However, the current orthogonal-waveform beamforming schemes significantly incr
Background and Objective: Even if treatment with stem cells has been shown to be safe and effective in many patients with stress urinary incontinence (SUI), there is still room for improvement using other regenerative medicine alternatives. Since the beneficial effects of stem cells are probably mediated by secretion of factors rather than by the cells themselves there is a good rationale for furt
Background. Pain is common in Parkinson's disease (PD) and impairs quality of life. The King's PD pain questionnaire (KPPQ) is a standardized, reliable, and valid self-administered questionnaire for screening of pain in PD. We developed a linguistically validated German version of the KPPQ and applied it to a cohort with fluctuating PD. Methods. The interculturally adapted German translation was p
Accessible housing plays a crucial role in supporting aging in place, yet Japan lacks adequate tools for assessing housing accessibility among older adults. This study describes the process of translating and adapting the environmental component checklist of the Swedish Housing Enabler instrument for valid use in Japan. During translation to the Japanese language, technical terms and specification
BACKGROUND: Few studies have explored the association between DNA methylation and physical activity. The aim of this study was to evaluate the association of objectively measured hours of sedentary behavior (SB) and moderate physical activity (MPA) with DNA methylation. We further aimed to explore the association between SB or MPA related CpG sites and cardiometabolic traits, gene expression, and
INTRODUCTION: An increasing number of sub-Saharan African countries are implementing national health insurance schemes (NHISs) to support the aspiration of universal health coverage (UHC). A growing body of literature recognises the private sector role in improving NHIS equity in service access, public provider complementarity and overall member satisfaction. Zambia has implemented the NHIS since
Background: Sex chromosomes have evolved numerous times, as revealed by recent genomic studies. However, large gaps in our knowledge of sex chromosome diversity across the tree of life remain. Filling these gaps, through the study of novel species, is crucial for improved understanding of why and how sex chromosomes evolve. Characterization of sex chromosomes in already well-studied organisms is a
Aims: To accommodate surplus energy, adipose tissue expands by increasing both adipose cell size (hypertrophy) and cell number (hyperplasia). Enlarged, hypertrophic adipocytes are known to have reduced insulin response and impaired glucose transport, which negatively influence whole-body glucose homeostasis. Rosiglitazone is a peroxisome proliferator-activated receptor gamma (PPARγ) agonist, known
Twenty-three lines from a mutagenized Bangladeshi BARI Gom-25 wheat population that included previously identified salt-tolerant lines, and the BARI Gom-25 control variety, were cultivated in a drip-irrigated salinity test field at Salt Farm Texel, Netherlands, to assess their performance during salt stress in European climatic conditions. Lines were tested at irrigation salinity levels of 1, 4, 8
