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Hundreds of thousands of genetic variants have been reported to cause severe monogenic diseases, but the probability that a variant carrier develops the disease (termed penetrance) is unknown for virtually all of them. Additionally, the clinical utility of common polygenetic variation remains uncertain. Using exome sequencing from 77,184 adult individuals (38,618 multi-ancestral individuals from a

A mobile stroke unit (MSU) is an ambulance, where stroke patients can be diagnosed and treated. Recently, placement of MSUs has been studied focusing on either maximum population coverage or equal service for all patients, termed efficiency and equity, respectively. In this study, we propose an unconstrained optimization model for the placement of MSUs, designed to introduce a tradeoff between eff

Experiences of cancer diagnosis are changing in light of both the increasingly technological-clinical diagnostic processes and the socio-political context in which interpersonal relations take place. This has raised questions about how we might understand patient–doctor relationship marked by asymmetries of knowledge and social capital, but that emphasise patients’ empowered choices and individual

The expression and functional impact of most expression orphan G-protein coupled receptors (GPCRs) in β-cell is not fully understood. Microarray expression indicated that 36 orphan GPCRs are restricted in human islets, while 55 receptors overlapped between human islets and INS-1 cells. GPR183 showed higher expression in diabetic compared to non-diabetic human islets. GPR183 expression co-localized

Children’s right to involvement in practices that address their well-being is frequently highlighted, yet how children exercise involvement in face-to-face encounters has remained fairly unknown. To fulfil our aim of identifying, describing and defining children’s involvement, we conducted an inductive microanalysis of face-to-face dialogue on audiovisual recordings of naturally occurring therapy Children’s right to involvement in practices that address their well-being is frequently highlighted, yet how children exercise involvement in face-to-face encounters has remained fairly unknown. To fulfil our aim of identifying, describing and defining children’s involvement, we conducted an inductive microanalysis of face-to-face dialogue on audiovisual recordings of naturally occurring therapy

The vast majority of the energy consumed for urban water services is used to heat tap water. Heat recovery from wastewater is consequently an area of rapidly growing concern, both in research and by commercial interest, promoting the path towards a circular economy. To facilitate a system-wide evaluation of heat recovery from wastewater, this paper compares two one-dimensional models (mechanistic

Objectives: low vitamin D during pregnancy is common and could adversely affect health outcomes. This study evaluated vitamin D status during pregnancy and early in life, and its association with glucose metabolism. Methods: maternal serum 25(OH)D, glucose, and insulin levels were measured longitudinally during pregnancy in Hispanic women with overweight/ obesity (n = 31) and their infants at birt

The late Cambrian Steptoean positive carbon isotope excursion (SPICE) represents a major perturbation to the global carbon cycle and was associated with trilobite extinctions and expansion of anoxic and/or euxinic water masses during episodes of eustatic sea-level change. We present a new Re-Os age together with Os and Nd isotope stratigraphy and major and trace-element data from the Alum Shale Fo

Universal Design for Learning (UDL) is considered an approach to include all students in the university. UDL is based on three main principles providing multiple means of Engagement, multiple means of representation, and multiple means of action and expression. It is relevant for teachers and departments to focus on more flexibility for students to get the required information, expressing their th

Intact adipose tissue function is essential to maintain glucose and lipid homeostasis. To study the impact of altered adipose tissue function on whole-body metabolism, diet-induced obesity in mice is frequently used as a model organism. In the current study, we have examined health-promoting effects of a lingonberry supplemented diet. We found C57BL/6J mice fed a high-fat diet supplemented with li

The COVID-19 pandemic put a lot of strain on healthcare organizations. Nurses account for over 50% of healthcare staff, and how nurses perform in their work is influenced by a number of human and work environmental factors. However, to our knowledge, there has not been a previous study with the intention to look at all areas that affect a sustainable working life and how these impact nurses’ menta

This chapter addresses the benefits of geo-statistical approaches in fire prevention processes, especially in the prevention of residential fires in urban areas. The aim is to demonstrate how residential fire incidents can be theorized and placed in a context where geo-statistical techniques and an area-based approach can support the emergency services fire prevention work. The chapter introduces

Latest generations of district heating and cooling systems are characterised by low network temperature with uninsulated pipes, decentralised heat pumps and chillers to modulate the network temperature, and shared energy flows between interconnected buildings. This paper presents a simulation model for the design and analysis of these systems. The model was developed using the Modelica language an