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Background: Genetic variants in SEC61A1 are associated with autosomal dominant tubulointerstitial kidney disease. SEC61A1 is a translocon in the endoplasmic reticulum membrane and variants affect biosynthesis of renin and uromodulin. Methods: A patient is described that presented at 1 year of age with failure-to-thrive, kidney failure (glomerular filtration rate, GFR, 18 ml/min/1.73m2), hyperkalem
Valid instrumental variables (IVs) must not directly impact the outcome variable and must also be uncorrelated with nonmeasured variables. However, in practice, IVs are likely to be invalid. The existing methods can lead to large bias relative to standard errors in situations with many weak and invalid instruments. In this paper, we derive a LASSO procedure for the k-class IV estimation methods in
Why should moral philosophers, moral psychologists, and machine ethicists care about computational complexity? Debates on whether artificial intelligence (AI) can or should be used to solve problems in ethical domains have mainly been driven by what AI can or cannot do in terms of human capacities. In this paper, we tackle the problem from the other end by exploring what kind of moral machines areWhy should moral philosophers, moral psychologists, and machine ethicists care about computational complexity? Debates on whether artificial intelligence (AI) can or should be used to solve problems in ethical domains have mainly been driven by what AI can or cannot do in terms of human capacities. In this paper, we tackle the problem from the other end by exploring what kind of moral machines are
The Swedish well fare state is a young phenomenon. In the 19th and early 20th centuries there were numerous non proprietor, poor and pauper people in the Swedish countryside such as crofters, boarders and inhabitants of rural slums. Being poor also meant being more exposed to risks than more resourceful persons, and having fragile safety nets. This paper is about these poor and pauper persons of In the 19th and early 20th centuries there were numerous non-proprietors and paupers in the Swedish countryside, such as crofters, boarders and inhabitants of rural slums. Multisource methods such as triangulation of written documents, historical maps and archaeological evidence are used to study the living conditions, vulnerability and marginalization of boarders and inhabitants of rural slums fr
We consider relations between Rényi's and Hentschel - Procaccia's definitions of generalized dimensions of a probability measure μ, and give conditions under which the two concepts are equivalent/different. Estimators of the dimension spectrum are developed, and strong consistency is established. Particular cases of our estimators are methods based on the sample correlation integral and box counti
We present an existence and stability theory for gravity–capillary solitary waves on the top surface of and interface between two perfect fluids of different densities, the lower one being of infinite depth. Exploiting a classical variational principle, we prove the existence of a minimiser of the wave energy E subject to the constraint I= 2 μ, where I is the wave momentum and 0 < μ< μ, where μ is
Inom beräkningskemi arbetar man mer med molekyler än atomer, studerar stökiometriska relationer, kinetik och geometri, interatomära eletronövergångar medan beräkningsfysik studerar mer atomer och dess kärnor, fasta tillståndet och intraatomära övergångar, oftast närmast mot atomens kärna. Interaktionerna sker på en storleksskala på nanometer eller mindre med energiövergångar som är diskontinuerligThis study presents an approach for partitioned fluid-structure interaction (FSI) applied to large structural deformations, where an incompressible turbulent solver is combined with a structural solver. The implementation is based upon two different open-source libraries by using MPI as a parallel communication protocol, the packages deal.II and OpenFOAM. FSI is achieved through a strongly-coupled
Nuclei can be studied through the analysis of their shell structure, that provides important information on the wavefunctions useful for interpreting many phenomena, from excitations to transfer reactions. Spectroscopic factors provide the degree of single particle behaviour of a nuclear state and are used to represent the shell structure of a nucleus. In this manuscript, we expand our recently de
A level crossing predictor is a predictor process $Y(t)$, possibly multivariate, which can be used to predict whether a specified process $X(t)$ will cross a predetermined level or not. A natural criterion on how good a predictor is, can be the probability that a crossing is detected a sufficient time ahead, and the number of times the predictor makes a false alarm. If $X$ is Gaussian and the proc
Short-term outcome and side effects after Uvulopalatopharyngoplasty (UPPP) are well recognized. However, there is a lack of knowledge of the long-term outcome and side effects after this surgery. This study was completed to investigate the outcome and side effects 20 years after UPPP for snoring and obstructive sleep apnoea.
Correlations between two high-pT hadrons provide information on how partons lose energy as they travel through the dense plasma formed at RHIC. To vary the path length partons travel, we measure the back-to-back jets in the AA collision of centrality and reaction-plane dependence, in addition to '2+1' particle correlations, and compare with p+p results.
Patients with pancreatic ductal adenocarcinoma (PDAC) commonly develop symptoms and signs in the 1-2 years before diagnosis that can result in changes to medications. We investigate recent medication changes and PDAC diagnosis in Nurses' Health Study (NHS; females) and Health Professionals Follow-up Study (HPFS; males), including up to 148,973 U.S. participants followed for 2,994,057 person-years
We compute the O(αs) QCD corrections to charged triple vector boson production at a hadron collider, i.e., the processes pp→ZZW±+X and pp→W±W W±+X. Intermediate Higgs boson exchange effects, spin correlations from leptonic vector boson decays, and off shell contributions are all taken into account. Results are implemented in a fully flexible Monte Carlo program that allows for an easy customizatio
The detection of trace amounts of phenothiazines with fast, direct methods is important for medical applications and the pharmaceutical industry. In this paper we explore the concept of an electronic tongue to detect methylene blue (MB), with a sensor array comprising 6 units. These units were a bare Pt electrode, and Pt electrodes coated with 1 -layer LB films of dipalmitoyl phosphatidylcholine (
Reading methods for software inspections are used for aiding reviewers to focus on special aspects in a software artefact. Many experiments have been conducted for checklist-based reading and scenario-based reading concluding that the focus is important for software reviewers. This paper describes and evaluates a reading technique called usage-based reading (UBR). UBR utilises prioritised use case
