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EPCAM mutation update : Variants associated with congenital tufting enteropathy and Lynch syndrome

The epithelial cell adhesion molecule gene (EPCAM, previously known as TACSTD1 or TROP1) encodes a membrane-bound protein that is localized to the basolateral membrane of epithelial cells and is overexpressed in some tumors. Biallelic mutations in EPCAM cause congenital tufting enteropathy (CTE), which is a rare chronic diarrheal disorder presenting in infancy. Monoallelic deletions of the 3′ end

A combined approach to assess the impacts of Ecological Focus Areas on regional structural development and agricultural land use

The 2013 reform of the Common Agricultural Policy (CAP) introduced compulsory ‘greening’ measures with the goal to mitigate environmental degradation caused by intensive agriculture. This paper aims to investigate how the implementation of the Ecological Focus Areas (EFA) obligation will affect regional agricultural development, the economic performance of farms and land use (including choices of

Roles of PAD4 and NETosis in Experimental Atherosclerosis and Arterial Injury : Implications for Superficial Erosion

RATIONALE: Neutrophils likely contribute to the thrombotic complications of human atheromata. In particular, neutrophil extracellular traps (NETs) could exacerbate local inflammation and amplify and propagate arterial intimal injury and thrombosis. PAD4 (peptidyl arginine deiminase 4) participates in NET formation, but an understanding of this enzyme's role in atherothrombosis remains scant.OBJECT

Genotype-Based Recall Studies in Complex Cardiometabolic Traits

In genotype-based recall (GBR) studies, people (or their biological samples) who carry genotypes of special interest for a given hypothesis test are recalled from a larger cohort (or biobank) for more detailed investigations. There are several GBR study designs that offer a range of powerful options to elucidate (1) genotype-phenotype associations (by increasing the efficiency of genetic associati

Echocardiographic right ventricular strain from multiple apical views is superior for assessment of right ventricular systolic function

Background: Right ventricular (RV) systolic function is an important determinant of outcome in patients with pulmonary hypertension (PH). Conventional echocardiographic measures of RV are mainly based on longitudinal contractility. Recently, measurement of RV global longitudinal strain derived from multiple windows (RVGLS) has emerged as an option but has not been well evaluated. The aim of the pr

Study protocol: Care of Late-Stage Parkinsonism (CLaSP): a longitudinal cohort study

Background: Parkinson's disease (PD) is a chronic progressive disorder leading to increasing disability. While the symptoms and needs of patients in the early stages of their disease are well characterized, little information is available on patients in the late stage of the disease. Methods/design: The Care of Late-Stage Parkinsonism (CLaSP) study is a longitudinal, multicenter, prospective cohor

Branding Helsingborg City for Domestic and International Students

The student group is an emerging target with high potential for both the service industry and municipalities. However, previous studies scrutinizing this segment have been limited despite its significance. The aim of this study is to provide a deeper understanding of how domestic and international students perceive Helsingborg city and to offer insight into the key factors influencing students’ pe

Ansvarsperiodens början och slut för styrelseledamöter i ett aktiebolag i samband med kapitalbrist enligt 25 kap. ABL.

I Aktiebolagslagen finns bestämmelser om tvångslikvidation på grund av kapitalbrist i 25 kap. 13–17 §§ ABL där syftet med bestämmelserna är att sätta upp en gräns för hur långt en förlustbringande verksamhet får fortsättas innan verksamheten måste avbrytas genom likvidation. Kritisk kapitalbrist innebär att bolagets eget kapital understiger hälften av det registrerade aktiekapitalet. Regleringen i

Development of a DC Beam Model for the First Prototype of the ESS Virtual Machine

En spallationskälla börjar generellt med en kraftig linjär protonaccelerator, som skickar en högenergisk protonstråle rakt in i ett neutrontätt mål. Strålens högenergiska protoner frigör neutroner från de neutronrika atomerna i målet via intra-nukleära interaktioner, vilket är själva spalleringsprocessen. Desto högre effekt den levererade protonstrålen har, desto fler neutroner frigörs. Därmed re

Musik med ett högre syfte - En kvantitativ och kvalitativ studie om känslor kring prestation inom frikyrkan

Sedan jag började gå till kyrkan på eget initiativ har jag ofta fascinerats av musiken och hur stor del av gudstjänsten som ägnas till sång och musik. Under musikstudier på gymnasiet, folkhögskola och musikhögskola har jag också tyckt mig urskilja att många musiker har en bakgrund i kyrkan. Även de tidiga kompositörerna, såsom Bach, var själv kyrkomusiker. Denna studie syftar till att undersöka huSince I started attending church on my own initiative, I have often been fascinated by the music and the amount of space it gets in the service. During my music studies at the upper secondary school, folk high school and music college, I have also found myself distinguishing that many musicians come from a background in the church. Even the early composers, such as Bach, were church musicians. Thi

Public collaborations and wicked issues - A study of collaboration structures in dealing with violence in close relationships

To address wicked issues, public authorities depend on each other. Yet an ongoing trend within contemporary public administration has been to streamline and decentralize welfare service. Consequently, the need for public agencies to work through inter-organisational collaborations has increased. Substantial knowledge of how this works in practice is however lacking. The aim of this thesis is to u

Gemensam krishantering – En mikrovärldsstudie om effekten av olika incitament

Exjobbet syftar till att öka förståelsen för hur beslutsfattande och samverkan påverkas av olika incitament och erfarenhet inom ramen av svensk krishantering. Därför togs följande två primära frågeställningar fram: - Är det skillnader i samverkan och beslutsfattande mellan erfarna och oerfarna personer? - Hur påverkar enkla/dubbla incitament viljan att samarbeta och utfallet av den gemensamma insaThis paper aims to increase the knowledge on how decision making is impacted by different incentives and different levels of collaboration. Experiments were carried out in a micro world called MikroRisk in groups of three students each, where half of the groups had simple incentives and the other half had double incentives. Simple incentives meant that the group members only had to concentrate on

Building organizational adaptive capacity in the face of crisis : Lessons from a public sector case study

While organizations providing critical services to society must have the ability to anticipate and prepare for foreseeable threats, they also need to develop a capacity to adapt in the face of unforeseen challenges and crises. While adaptive capacity becomes manifested in a specific situation through the concrete adaptations carried out by an organization, the preconditions to adapt exist already

Prior electrocardiograms not useful for machine learning predictions of major adverse cardiac events in emergency department chest pain patients

At the emergency department (ED), it is important to quickly and accurately determine which patients are likely to have a major adverse cardiac event (MACE). Machine learning (ML) models can be used to aid physicians in detecting MACE, and improving the performance of such models is an active area of research. In this study, we sought to determine if ML models can be improved by including a prior

Molecular basis of the reaction mechanism of the methyltransferase HENMT1

PIWI-interacting RNAs (piRNAs) are important for ensuring the integrity of the germline. 3'-terminal 2'-O-methylation is essential for piRNA maturation and to protect them from degradation. HENMT1 (HEN Methyltransferase 1) carries out the 2'-O-methylation, which is of key importance for piRNA stability and functionality. However, neither the structure nor the catalytic mechanism of mammalian HENMT

Genetic predictors of lifelong medication-use patterns in cardiometabolic diseases

Little is known about the genetic determinants of medication use in preventing cardiometabolic diseases. Using the Finnish nationwide drug purchase registry with follow-up since 1995, we performed genome-wide association analyses of longitudinal patterns of medication use in hyperlipidemia, hypertension and type 2 diabetes in up to 193,933 individuals (55% women) in the FinnGen study. In meta-anal