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Introduction: Of newly diagnosed cases of haemophilia B, the proportion of sporadic cases is usually 50% of severe cases and 25% of moderate/mild cases. However, cases presumed to be sporadic due to family history may not always be sporadic. Few case reports have been published on mosaicism in haemophilia B. Aim: The present study aimed to trace the origin of the pathogenic variant in a well-defin
Loss-of-function variants in the PRKN gene encoding the ubiquitin E3 ligase PARKIN cause autosomal recessive early-onset Parkinson's disease (PD). Extensive in vitro and in vivo studies have reported that PARKIN is involved in multiple pathways of mitochondrial quality control, including mitochondrial degradation and biogenesis. However, these findings are surrounded by substantial controversy due
Studying the Sorgenfri urban renewal project in the Swedish city of Malmö, this article suggests that a shift in planning documents reflects a new understanding of segregation containing traces of arguments from theoretical debates in geography. This new understanding of segregation appears informed by geographic debates on encounters, mobility, and boundaries, and implies that segregation is best
Background: The core of postnatal care is that midwives recognise the needs of women and new-born babies and provide the highest possible quality of care and medical safety to optimise the health and well-being of new families. The study aimed to describe midwives' experiences in providing postnatal care for families during the first week after the birth of their baby. Methods: An interview study
Reaction products in heterogeneous catalysis can be detected either on the catalyst surface or in the gas phase after desorption. However, if atoms are dissolved in the catalyst bulk, then reaction channels can become hidden. This is the case if the dissolution rate of the deposits is faster than their formation rate. This might lead to the underestimation or even overlooking of reaction channels
We consider weighted Chebyshev polynomials on the unit circle corresponding to a weight of the form (z−1)s where s > 0. For integer values of s this corresponds to prescribing a zero of the polynomial on the boundary. As such, we extend findings of Lachance et al. (1979), to non-integer s. Using this generalisation, we are able to relate Chebyshev polynomials on lemniscates and other, more establi
The search for certainty in a world that is often so binary – where choosing between two options seems to be the better (and simpler) alternative – gives meaning to the expression «a picture is worth a thousand words». But if we are running away from simplicity, why choose between the two?Since the advent of photography, the scientific community has had a tool with which to provide objective knowl
Importance: Clonal hematopoiesis of indeterminate potential (CHIP) may contribute to the risk of atrial fibrillation (AF) through its association with inflammation and cardiac remodeling. Objective: To determine whether CHIP was associated with AF, inflammatory and cardiac biomarkers, and cardiac structural changes. Design, Setting, and Participants: This was a population-based, prospective cohort
A new study combining high-speed video recordings and computational modeling has revealed an overlooked feature of the famous honeybee waggle dance, yielding the first biologically plausible neural circuit model of how the information transmitted via the waggle dance could be assimilated by the follower bees.
Landau cavities used to lengthen the bunches in storage rings necessarily constitute a significant impedance. Because of the particular phase of the field required for bunch lengthening, they are often detuned quite considerably from resonance, more so than the main cavities. As a result, their impedance can excite the first coupled-bunch mode such that it becomes unstable. This phenomenon has pre
Many crimes build on the ability to blend into the scenery of everyday life—to become part of people’s regular routines, but with clandestine intentions. “Criminals,” in other words, often have an impressive anthropological capability. They are not just good at stealing stuff or cheating people. To commit a crime, they must first have a detailed understanding of the way people behave and live. The
Wall-bounded turbulence is relevant for many engineering and natural science applications, yet there are still aspects of its underlying physics that are not fully understood, particularly at high Reynolds numbers. In this study, we investigate fully developed turbulent pipe flows at moderate-to-high friction velocity Reynolds numbers ( 361 ≤ R e τ ≤ 2000 ), corresponding to bulk velocity-based Re
Purpose: The aim of the study was to assess associations between intake of combined soft drinks (sugar sweetened and artificially sweetened) and fruit and vegetable juices and the risk of hepatocellular carcinoma (HCC), intrahepatic bile duct (IHBC) and biliary tract cancers (GBTC) using data from the European Prospective Investigation into Cancer and Nutrition cohort of 477,206 participants from
In order to keep up with the constant demand for higher data rates, the fifth generation of mobile communication (5G) introduced the use of mm-wave carrier frequencies from 24 to 71 GHz. Plenty of new frequency spectrum then became available, which has allowed for channel bandwidths of several hundreds of MHz. 6G is projected to continue this trend with even higher carrier frequencies and wider ba
Since time immemorial, humans have been trying to answer questions about many phenomena, especially those related to health, by creating numerous imaginary questions. One of these common questions relates to the existence of huge numbers of small organisms that live with humans, and whose number inside the human body is a thousand times greater than outside it. Today, many scientists consider all
Deep Eutectic Solvents (DES) are a type of emerging solvent that are gaining in popularity for their versatile and adjustable properties, and components that can be safe, biodegradable and sustainably sourced. Here we investigate the interactions that give rise to their unique properties.The first paper looks at the question of how chirality in a component effects the DES structure. Many DES compo
BackgroundChildren and adolescents treated for a brain tumor suffer from more fatigue than survivors of other types of childhood cancer. As tumor location might be predictive of fatigue, our aim was to investigate the longitudinal development of fatigue in children with brain tumors and risk factors for fatigue separately for different tumor locations.MethodsFatigue was assessed 1235 times for 425
CO2 management, capturing CO2 from industry processes or removing CO2 from the atmosphere, is increasingly presented as a necessity for climate. Scandinavian countries are at the forefront of developing carbon capture and storage (CCS) technology. We reviewed the scientific literature on CCS in Scandinavia to identify and analyse prevalent imaginaries for the role of this technology in the region.
