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Germline protein truncating variants (PTVs) in the FANCM gene have been associated with a 2–4-fold increased breast cancer risk in case-control studies conducted in different European populations. However, the distribution and the frequency of FANCM PTVs in Europe have never been investigated. In the present study, we collected the data of 114 European female breast cancer cases with FANCM PTVs as
As the Arctic warms, vegetation is responding, and satellite measures indicate widespread greening at high latitudes. This ‘greening of the Arctic’ is among the world’s most important large-scale ecological responses to global climate change. However, a consensus is emerging that the underlying causes and future dynamics of so-called Arctic greening and browning trends are more complex, variable a
Bispecific antibodies come in many different formats, including the particularly interesting two-in-one antibodies, where one conventional IgG binds two different antigens. The IgG format allows these antibodies to mediate Fc-related functionality, and their wild-type structure ensures low immunogenicity and enables standard methods to be used for development. It is however difficult, time-consumi
The formation of amyloid fibrils from soluble peptide is a hallmark of many neurodegenerative diseases such as Alzheimer's and Parkinson's diseases. Characterization of the microscopic reaction processes that underlie these phenomena have yielded insights into the progression of such diseases and may inform rational approaches for the design of drugs to halt them. Experimental evidence suggests th
BACKGROUND: In the Swedish population-based follow-up program and national quality registry for individuals with cerebral palsy (CPUP), physiotherapy (PT) and occupational therapy (OT) treatments are regularly recorded along with functional status. By Swedish law, all citizens irrespective of personal characteristics or socioeconomic status, have the right to receive healthcare and medical treatme
With the aim to get a general understanding of rotational bands in the deformed rare-earth region or in deformed nuclei in general, the observed normal-deformed rotational structures in Lu167 are interpreted within the unpaired and paired cranked Nilsson-Strutinsky formalisms, cranked Nilsson-Strutinsky and cranked Nilsson-Strutinsky-Bogoliubov. Particular attention is devoted to the band crossing
PURPOSE: The purpose was to examine long-term consequences of exposure to electrical current passing through the body. We investigated (1) whether electricians after having experienced an electrical accident report more cognitive problems and lower mental wellbeing and (2) have objectively verifiable reduced cognitive function; and (3) which circumstances at the time of the accident affect long-te
Pathogen communities can vary substantially between geographical regions due to different environmental conditions. However, little is known about how host immune systems respond to environmental variation across macro-ecological and evolutionary scales. Here, we select 37 species of songbird that inhabit diverse environments, including African and Palaearctic residents and Afro-Palaearctic migran
Dementia with Lewy bodies (DLB) is a clinically heterogeneous disorder with a substantial burden on healthcare. Despite this, the genetic basis of the disorder is not well defined and its boundaries with other neurodegenerative diseases are unclear. Here, we performed whole exome sequencing of a cohort of 1118 Caucasian DLB patients, and focused on genes causative of monogenic neurodegenerative di
OBJECTIVES: The present study validated data that had been reported to the Swedish Quality Registry for Cleft Lip and Palate (CLP) under new requirements from 2016, when use of the 5-year-old (5YO) and the Modified Huddart and Bodenham (MHB) indices for rating occlusion in children born with unilateral CLP (UCLP) was introduced. MATERIALS AND METHODS: The sample included blinded study casts (n = 9
The present research aims at understanding the value of travel guidebooks as an object of consumption in the context of the digital age. It does so by applying a consumer value perspective to an object that has traditionally been studied as an information channel or as a cultural text and not as an object of consumption. Holbrook’s consumer value framework was adopted to identify the value dimensi
Acute respiratory distress syndrome (ARDS) is a common cause of death in the intensive care unit, with mortality rates of ~30-40%. To reduce invasive diagnostics such as bronchoalveolar lavage and time-consuming in-hospital transports for imaging diagnostics, we hypothesized that particle flow rate (PFR) pattern from the airways could be an early detection method and contribute to improving diagno
The Nordic doctorate has its roots in the Germanic Bildung-tradition, with a decentralised and discipline-oriented curriculum, local and individualised leadership and autonomous supervisors. Currently, the Nordic doctorate has arrived at a crossroads where it is pulled in two different directions. The first characterised by formalisation and centralised Graduate Schools with study directors, middl
Epilepsy is a neurological disorder, affecting approximately 1% of the population. The high rate of drug-resistance in epilepsy in general (30%), and temporal lobe epilepsy (TLE) in particular, pose a serious clinical problem. Thus, novel treatments for drug-resistant epilepsy is highly warranted. Gene therapy has been suggested to be a promising approach to target drug-resistant focal epilepsy si
This study reconstructs the regional vegetation and climate dynamics between the upper Late Pleistoceneand Holocene around Pian del Lago, a coastal mountain marshland located at 831 m asl in westernLiguria (NW-Italy), based on the pollen analysis of a 13 m-long sediment core. The record provided aunique opportunity to study a poorly documented period in northern Italy and across many parts ofsouth
