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PurposeGermline genetic testing for BRCA1 and BRCA2 variants has been a part of clinical practice for >2 decades. However, no studies have compared the cancer risks associated with missense pathogenic variants (PVs) with those associated with protein truncating (PTC) variants.MethodsWe collected 582 informative pedigrees segregating 1 of 28 missense PVs in BRCA1 and 153 pedigrees segregating 1 of
Historik över tillkomsten av det riksdagsbeslut 1873 som för första gången gav vissa universitetsanställda reguljära pensionsmöjligheter samt några exempel på hur detta berörde enskilda lärare vid Lunds universitet, särskilt fysikprofessor Adam Wilhelm Ekelund.
In this article, we explore the production of socio-cultural values around blue-green solutions (BGS) through the perspective of care. We explore how values and preferences are formed through the complexity of everyday life engagements in a BGS environment. The data come from a questionnaire answered by 328 households in the neighborhood of Augustenborg in Malmö, Sweden. The questionnaire collects
Purpose: There is a growing literature on the importance of cultural adaptation of research-supported social work interventions. Few studies have however offered systematic methods for the a priori assessment of intervention fit in a new context. The current study explores the use of measurement invariance analyses to help identify whether key theoretical constructs in an intervention’s theory of
Since spring 2019 an experimental setup consisting of an electron spectrometer and an ion time-of-flight mass spectrometer for diluted samples has been available for users at the FinEstBeAMS beamline of the MAX IV Laboratory in Lund, Sweden. The setup enables users to study the interaction of atoms, molecules, (molecular) microclusters and nanoparticles with short-wavelength (vacuum ultraviolet an
Background: There is growing evidence that the neuropsychiatric and neurological disorders depression, ataxia and dystonia share common biological pathways. We therefore aimed to increase our understanding of their shared pathophysiology by investigating their shared biological pathways and molecular networks. Methods: We constructed gene sets for depression, ataxia, and dystonia using the Human P
Integration of disaster risk reduction (DRR) and climate change adaptation (CCA) is widely recognized as a solution for reducing the risk and impacts of disasters. However, successful integration seems elusive, and the two goals continue to function in isolation and in parallel. This article provides empirical insights into the perceived effects of separating government institutions for DRR and CC
Identification of prostate gold fiducial markers in magnetic resonance imaging (MRI) images is challenging when CT images are not available, due to misclassifications from intra-prostatic calcifications. It is also a time consuming task and automated identification methods have been suggested as an improvement for both objectives. Multi-echo gradient echo (MEGRE) images have been utilized for manu
The raison d’être of the humanities is widely held to reside in its unique ability to generate critical thinking and critical thinkers. But what is “critical thinking?” Is it a generalized mode of reasoning or a form of political critique? How does it relate to discipline-specific practices of scholarly pursuit? How does it relate to discourses of “post-truth” and “alternative facts”? How is it be
Occupation can be defined as all activities that occupy a person’s time. The Satisfaction with Daily Occupations and Occupational Balance instrument evaluates the perceived satisfaction with performance and the balance in time dedicated to different occupations. The main aim was to translate the original instrument to Spanish and examine and establish the psychometric properties. This is a quantit
Background: The purpose of this project was to develop a telemedicine platform that supports home site monitoring and integrates biochemical, physiological, and dietary parameters for individual patients with hepatic glycogen storage disease (GSD). Methods and results: The GSD communication platform (GCP) was designed with input from software developers, GSD patients, researchers, and healthcare p
The optical klystron installed on the Elettra storage-ring is normally used as interaction region for an oscillator free-electron laser, but, removing the optical cavity and using an external seed laser, one obtains an effective scheme for single-pass harmonic generation. In this configuration the high-power external laser is synchronized with the electron beam entering the first undulator of the
Agroforestry practices support agricultural resilience against climatic variability, increase soil productivity, can diversify and increase farmers' incomes, and support native fauna in agricultural landscapes. However, many farmers are still reluctant to implement agroforestry practices. We distributed questionnaires to 75 agroforestry and 64 "conventional agriculture" small-scale farmers working
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
OBJECTIVE: In dynamic susceptibility contrast MRI (DSC-MRI), an arterial input function (AIF) is required to quantify perfusion. However, estimation of the concentration of contrast agent (CA) from magnitude MRI signal data is challenging. A reasonable alternative would be to quantify CA concentration using quantitative susceptibility mapping (QSM), as the CA alters the magnetic susceptibility in
Liquid biopsy allows assessment of multiple analytes, providing temporal information with potential for improving understanding of cancer evolution and clinical management of patients. Although liquid biopsies are intensely investigated for prediction and response monitoring, preanalytic variables are of primary concern for clinical implementation, including categories of collection method and sam
Control charts have typically been constructed using estimators obtained under assumptions of data independence and a given distribution of data. Here, I deal with cases in which neither of these conditions are satisfied. In particular, I consider the case of data obtained from a first-order autoregressive (AR(1)) time series model that have been contaminated by outlying process observations. I fi
Introduction: Reaching universal coverage of assistive technologies remains a challenge in many low- and middle-income countries. Tajikistan has recently adopted several policies and national strategies to strengthen the rights of people with disabilities and improve the provision of assistive products. However, Tajikistan faces a number of challenges, including ensuring sustainable funding for th
Resum:The role of the family in both individual social status attainment and labor careers during industrialization was questioned by the Modernization theory. Accordingly, familial nuclearization was argued to be one of the causes. However, little has been said on this topic regarding societies in which stem or joint families were important as in the case of Southern Europe. This article studies
