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Finland provides unique opportunities to investigate population and medical genomics because of its adoption of unified national electronic health records, detailed historical and birth records, and serial population bottlenecks. We assembled a comprehensive view of recent population history (≤100 generations), the timespan during which most rare-disease-causing alleles arose, by comparing pairwis
KIT is a receptor tyrosine kinase (RTK) involved in several cellular processes such as regulation of proliferation, survival and differentiation of early hematopoietic cells, germ cells and melanocytes. Activation of KIT results in phosphorylation of tyrosine residues in the receptor, and recruitment of proteins that mediate downstream signaling and also modulate receptor signaling. Here we show t
Hybridization is increasingly recognized as a potent evolutionary force. Although additive genetic variation and novel combinations of parental genes theoretically increase the potential for hybrid species to adapt, few empirical studies have investigated the adaptive potential within a hybrid species. Here, we address whether genomic contingencies, adaptation to climate, or diet best explain dive
A search for W′-boson production in the W′→tb¯→qq¯′bb¯ decay channel is presented using 36.1fb−1 of 13 TeV proton–proton collision data collected by the ATLAS detector at the Large Hadron Collider in 2015 and 2016. The search is interpreted in terms of both a left-handed and a right-handed chiral W′ boson within the mass range 1–5 TeV. Identification of the hadronically decaying top quark is perfo
Background: Lead time (LT) is of key importance in early detection of cancer, but cannot be directly measured. We have previously provided LT estimates for prostate cancer (PCa) using archived blood samples from cohorts followed for many years without screening. Objective: To determine the association between LT and PCa grade at diagnosis to provide an insight into whether grade progresses or is s
The neuropeptide calcitonin gene-related peptide is well established as a key player in the pathogenesis of migraine. Clinical studies show calcitonin gene-related peptide levels correlate with migraine attacks, and decreases in this neuropeptide can indicate antimigraine therapy effectiveness. Research has revealed a wide distribution of expression sites for calcitonin gene-related peptide in the
The combination of a negative D-dimer and a Wells score can rule out, but not confirm, a diagnosis of deep venous thrombosis (DVT). We aimed to identify new diagnostic biomarkers for DVT and to investigate their relationship with hypercoagulability markers [D-dimer and activated protein C-protein C inhibitor (APC-PCI) complex]. We screened 92 cardiovascular-specific proteins in plasma samples from
The fifth Åland Island meeting on von Willebrand disease (VWD) was held on the Åland Islands, Finland, from 22 to 24 September 2016—90 years after the first case of VWD was diagnosed in a patient from the Åland Islands in 1926. This meeting brought together experts in the field of VWD to share knowledge and expertise on current trends and challenges in VWD. Topics included the storage and release
During the last decade, black metal bands have recorded anti-Islamic music in Turkey and Saudi Arabia. Black metal is renowned for being anti-authoritarian and especially against organized religion. As such, black metal music is a strong expression of protest against, and repudiation of, society, manifesting social pressure, and contrasting with the discursively normal. Using the results from two
In psychology as elsewhere, the main statistical inference strategy to establish empirical effects is null-hypothesis significance testing (NHST). The recent failure to replicate allegedly well-established NHST-results, however, implies that such results lack sufficient statistical power, and thus feature unacceptably high error-rates. Using data-simulation to estimate the error-rates of NHST-resu
A dense nerve plexus in the clear outer window of the eye, the cornea, can be imaged in vivo to enable non-invasive monitoring of peripheral nerve degeneration in diabetes. However, a limited field of view of corneal nerves, operator-dependent image quality, and subjective image sampling methods have led to difficulty in establishing robust diagnostic measures relating to the progression of diabet
Treatment of migraine is on the cusp of a new era with the development of drugs that target the trigeminal sensory neuropeptide calcitonin gene-related peptide (CGRP) or its receptor. Several of these drugs are expected to receive approval for use in migraine headache in 2018 and 2019. CGRP-related therapies offer considerable improvements over existing drugs as they are the first to be designed s
We describe a 1,400 million-year old (Ma) iron formation (IF) from the Xiamaling Formation of the North China Craton. We estimate this IF to have contained at least 520 gigatons of authigenic Fe, comparable in size to many IFs of the Paleoproterozoic Era (2,500–1,600 Ma). Therefore, substantial IFs formed in the time window between 1,800 and 800 Ma, where they are generally believed to have been a
The period of the first to second trimester transition in human pregnancy represents a sensitive window for fetal organogenesis, particularly in regard to the development of the male reproductive system. This is a time of relative analytical inaccessibility. We have used a large national biobank of amniotic fluid samples collected at routine amniocentesis to determine the impacts of exogenous endo
The polarization state of isolated attosecond pulses generated by high-order harmonic generation can now be manipulated at will. The development opens the door for a multitude of ultrafast experiments to investigate chiral media.
Unexpected clustering in the orbital elements of minor bodies beyond the Kuiper belt has led to speculations that our Solar system actually hosts nine planets, the eight established plus a hypothetical 'Planet Nine'. Several recent studies have shown that a planet with a mass of about 10 Earth masses on a distant eccentric orbit with perihelion far beyond the Kuiper belt could create and maintain
In this work, a mini-CAST soot generator was used to produce soot with different optical and physicochemical characteristics. Absorption Ångström exponents (AAE) expressing the absorption wavelength dependence were assessed by multiwavelength in-situ and filter-based (aethalometer) laser extinction. The two optical techniques showed good agreement. For the chosen mini-CAST operating conditions, AA
Chronic pain including temporomandibular disorder (TMD) pain involves a complex interplay between peripheral and central sensitization, endogenous modulatory pathways, cortical processing and integration and numerous psychological, behavioral and social factors. The aim of this study was to compare spectroscopic patterns of N-Acetyl-aspartate (NAA), total creatine (tCr), choline (Cho), myo-inosito
A versatile mobile remote sensing system for multidisciplinary environmental monitoring tasks on the Chinese scene is described. The system includes a 20 Hz Nd:YAG laser-pumped dye laser, optical transmitting/receiving systems with a 30 cm and a 40 cm Newtonian telescope, and electronics, all integrated in a laboratory, installed on a Jiefang truck. Results from field experiments on atomic mercury
A CW-laser radar system developed for combustion diagnostics is described. The system is based on triangulation to attain range information. A portable system has been constructed and here we show some result from measurements in various flames, for example Rayleigh scattering thermometry and monitoring of particle distributions with high temporal and spatial resolution. The concept can equally we
