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Background: The range of onset ages within some PSEN1 families is wide, and a few cases of reduced penetrance of PSEN1 mutations have been reported. However, published data on reduced penetrance have been limited to clinical histories, often collected retrospectively and lacking biomarker information. We present a case of reduced penetrance of the PSEN1 H163Y mutation in a carrier prospectively fo

The centrality dependence of the mean charged-particle multiplicity as a function of pseudorapidity is measured in approximately 1 (Formula presented.) b (Formula presented.) of proton–lead collisions at a nucleon–nucleon centre-of-mass energy of (Formula presented.) (Formula presented.) using the ATLAS detector at the Large Hadron Collider. Charged particles with absolute pseudorapidity less than

Exploratory testing (ET) is a powerful and efficient way of testing software by integrating design, execution, and analysis of tests during a testing session. ET is often contrasted with scripted testing, and seen as a choice of either exploratory testing or not. In contrast, we pose that exploratory testing can be of varying degrees of exploration from fully exploratory to fully scripted. In line

Structural change, economic diversification and new path development feature prominently in scientific and policy debates. Against the backdrop of increasing specialization in the economy, this paper reinterprets Schumpeterian innovative entrepreneurship as a fundamental process that creates new connections between distinct fields of specialization, thereby induces path-breaking innovations and st

Environmental stresses, including ammonium (NH4 +) nourishment, can damage key mitochondrial components through the production of surplus reactive oxygen species (ROS) in the mitochondrial electron transport chain. However, alternative electron pathways are significant for efficient reductant dissipation in mitochondria during ammonium nutrition. The aim of this study was to define the role of ext

Objective: The aim of this investigation was to study differences between male and female patients with stage T1 urinary bladder cancer (UBC) regarding intravesical instillation therapy, second resection and survival. Materials and methods: This study included all patients with non-metastatic primary T1 UBC reported to the Swedish National Register of Urinary Bladder Cancer (SNRUBC) from 1997 to 2

Recent studies indicate that mitochondrial DNA (mtDNA) dysfunction is a biomarker of oxidative stress and can predict the risk of cardiovascular diseases (CVDs). Genetic variants in PARK2 (rs4708928) and MRPL37 (rs10888838) genes have been shown to be associated with altered levels of mtDNA in a sex-specific manner. However, the role of these genetic variants in risk assessment of recurrent venous

BACKGROUND: Patients with cleft lip and/or palate can undergo numerous procedures to improve appearance, speech, dentition and hearing. We developed a cleft-specific patientreported outcome instrument to facilitate rigorous international measurement and benchmarking. METHODS: Data were collected from patients aged 8-29 years with cleft lip and/or palate at 30 hospitals in 12 countries between Octo

Explaining the ∼5-million-year delay in marine biotic recovery following the latest Permian mass extinction, the largest biotic crisis of the Phanerozoic, is a fundamental challenge for both geological and biological sciences. Ocean redox perturbations may have played a critical role in this delayed recovery. However, the lack of quantitative constraints on the details of Early Triassic oceanic an

Aim: The overall aim was to investigate associations between bullying, violence and mental health among young people in Sweden. Specific aims were to investigate differences in exposure to peer victimization among disabled and non-disabled adolescents (Paper I), the influence of social support on the relationship between cyber harassment and mental distress among adolescents (Paper II), the associ

Background Chronic inflammation plays a critical role in the pathogenesis of the 2 major types of gastric cancer. Several foods, nutrients, and nonnutrient food components seem to be involved in the regulation of chronic inflammation. Objective We assessed the association between the inflammatory potential of the diet and the risk of gastric carcinoma, overall and for the 2 major subsites: cardia

The aim was to investigate associations between economic stress in childhood and adulthood, and low leisure-time physical activity (LTPA) in adulthood from two life course perspectives. The public health survey in Scania in the southernmost part of Sweden in 2012 is a cross-sectional study based on a stratified random sample with 28,029 respondents aged 18–80 (51.7% response rate). Associations be

Objective: To identify circulating angiogenic and inflammatory biomarkers with potential in screening for pulmonary arterial hypertension (PAH) in systemic sclerosis (SSc), and in early diagnosis and determination of treatment response in PAH. Method: Plasma samples were taken at the time of PAH diagnosis and at treatment follow-up after a median (interquartile range) of 4 months (3–9.8 months) in

Effects of joint attention were addressed on 3- to 4-year-olds' performance in a verbal false-Belief Test (FBT), featuring the experimenter as co-watcher rather than narrator. In two experiments, children (N = 183) watched a filmed-FBT jointly with a test leader, disjointed from a test leader, or alone. Children attending jointly with a test leader were more likely to pass the FBT compared with no

A negative shift in the calcium isotopiccomposition of marine carbonate rocksspanning the end-Permian extinction horizonin South China has been used to arguefor an ocean acidification event coincidentwith mass extinction. This interpretationhas proven controversial, both because theexcursion has not been demonstrated acrossmultiple, widely separated localities, and becausemodeling results of coupl

Conodonts have been a key tool for biostratigraphical, evolutionary and palaeobiogeographical studies, and the GermanicBasin has been one of the most important regions for these studies. However, few modern studies provide systematic data onthe mainly endemic conodonts of the Middle Triassic Germanic Basin. Here we document conodonts from two sections inGermany, one Bithynian in age and the other

The end-Permian mass extinction was the most severe biotic crisis in Earth's history. In its direct aftermathmicrobial communities colonized some of the space left vacant after the severe decline of skeletal metazoans.The Permian-Triassic boundary microbialites were peculiarly abundant on low-latitude shallow-marine carbonateshelves of central Tethyan continents. Armenia features particularly well

The cause of the Triassic-Jurassic (Tr-J) boundary biotic crisis, one of the ‘Big Five’ mass extinctions of the Phanerozoic, remains controversial. In this study, we analyzed multiple sulfur-isotope compositions (δ33S, δ34S and δ36S) of pyrite and Spy/TOC ratios in two Tr-J successions (Mariental, Mingolsheim) from the European Epicontinental Seaway (EES) in order to better document ocean-redox va