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Autosomal recessive hypercholesterolemia is a rare inherited disorder, characterized by extremely high total and low-density lipoprotein cholesterol levels, that has been previously linked to mutations in LDLRAP1. We identified a family with autosomal recessive hypercholesterolemia not explained by mutations in LDLRAP1 or other genes known to cause monogenic hypercholesterolemia. The aim of this s
Popular Abstract in Swedish Geografisk fördelning av inomartsvariation i vittspridda Euroasiska skogsväxter Torbjörn Tyler Sammanfattning av författaren's doktorsavhandling Inledning Arter's utbredningar bestäm's inte bara av omvärldsfaktorer som klimat och jordmån utan även av de möjligheter det givit's dem att sprida sig. För att sprida sig över stora geografiska områden kräv's tid och i en väMany woodland plant species have huge distribution areas covering large parts of the Eurasian continent including areas that were glaciated during the last glacial period. In the present thesis, the geographic distribution of variation within such species is investigated and discussed in relation to glacial survival and post-glacial migration, dispersal ability, breeding system and levels of gene-
Background: Worldwide, about 1.3 million annual ischaemic strokes (IS) occur in adults aged <50 years. Of these early-onset strokes, up to 50% can be regarded as cryptogenic or associated with conditions with poorly documented causality like patent foramen ovale and coagulopathies. Key hypotheses/aims: (1) Investigate transient triggers and clinical/sub-clinical chronic risk factors associated wit
The role of hormonal factors in the etiology of lymphoid neoplasms remains unclear. Previous studies have yielded conflicting results, have lacked sufficient statistical power to assess many lymphoma subtypes, or have lacked detailed information on relevant exposures. Within the European Prospective Investigation Into Cancer and Nutrition cohort, we analyzed comprehensive data on reproductive fact
Objective: To assess the safety and efficacy of rituximab in systemic sclerosis (SSc) in clinical practice. Methods: We performed a prospective study including patients with SSc from the European Scleroderma Trials and Research (EUSTAR) network treated with rituximab and matched with untreated patients with SSc. The main outcomes measures were adverse events, skin fibrosis improvement, lung fibros
The typical methodology for comparing simulated galaxies with observational surveys is usually to apply a spatial selection to the simulation to mimic the region of interest covered by a comparable observational survey sample. In this work, we compare this approach with a more sophisticated post-processing in which the observational uncertainties and selection effects (photometric, surface gravity
Higgs boson production with subsequent decay to photons was searched for in the data collected by the DELPHI detector at centre-of-mass energies between 183 GeV and 209 GeV, corresponding to a total integrated luminosity of nearly 650 pb(-1). No evidence for a signal was found, and limits were set on h(0)Z(0) and h(0)A(0) production with h(0) decay to photons. These results were used to exclude re
The particle longitudinal dynamics is affected by errors on the phase and amplitude of the electro-magnetic field in each cavity that cause emittance growth, beam degradation and losses. One of the causes of the phase error is the change of the ambience temperature in the LINAC tunnel, in the stub and in the klystron gallery that induces a phase drift of the signal travelling through the cables an
Previous studies have reported that chromosome synteny in Lepidoptera has been well conserved, yet the number of haploid chromosomes varies widely from 5 to 223. Here we report the genome (393 Mb) of the Glanville fritillary butterfly (Melitaea cinxia; Nymphalidae), a widely recognized model species in metapopulation biology and eco-evolutionary research, which has the putative ancestral karyotype
Pancreatic cancer (PC) has an exceptionally low survival rate and primary prevention strategies are limited. Folate plays an important role in one-carbon metabolism and has been associated with the risk of several cancers, but not consistently with PC risk. We aimed to investigate the association between dietary folate intake and PC risk, using the standardised folate database across 10 European c
Few data exist regarding predictors of rapid aortic root dilation and referral for aortic surgery in Marfan syndrome (MFS). To identify independent predictors of the rate of aortic root (AoR) dilation and referral for aortic surgery, we investigated the data from the Pediatric Heart Network randomized trial of atenolol versus losartan in young patients with MFS. Data were analyzed from the echocar
The lifetimes of the first excited states of the N=30 isotones Ca-50 and Sc-51 have been determined using the Recoil Distance Doppler Shift method in combination with the CLARA-PRISMA spectrometers. This is the first time such a method is applied to measure lifetimes of neutron-rich nuclei populated via a multinucleon transfer reaction. This extends the lifetime knowledge beyond the f(7/2) shell c
Approximately 5% to 10% of melanoma may be hereditary in nature, and about 2% of melanoma can be specifically attributed to pathogenic germline mutations in cyclin-dependent kinase inhibitor 2A (CDKN2A). To appropriately identify the small proportion of patients Who benefit most from referral to a genetics specialist for consideration of genetic testing for CDKN2A, We have reviewed available publi
Haemophilia patients with inhibitors characteristically have impaired joint function and reduced health-related quality of life (HRQoL). This analysis examined whether secondary prophylaxis with recombinant activated factor VII (rFVIIa) improves HRQoL vs. conventional on-demand therapy in patients with haemophilia with inhibitors and frequent bleeds. After a 3-month preprophylaxis period, 22 patie
The National Institute of Standards and Technology (NIST) Standard Reference Material (SRM) for seaweed was developed through an interlaboratory comparison with 24 participants from 16 countries. After evaluating different techniques to calculate certified values for the radionuclides, the median method was found to be the most representative technique. The certified values were provided for 13 ra
Background. Philadelphia chromosome positive (Ph+) ALL accounts for 3-5% of pediatric ALL. An international survey on 640 children diagnosed between 1995 and 2005 and treated with chemotherapy and stem cell transplantation (SCT) without the use of tyrosin kinase inhibitors (TKI) recently reported an overall 7-year event free survival (EFS) and overall survival (OS) of 31.2% and 44.2%, respectively
Metabolomics is now widely used to characterize metabolic phenotypes associated with lifestyle risk factors such as obesity. The objective of the present study was to explore the associations of body mass index (BMI) with 145 metabolites measured in blood samples in the European Prospective Investigation into Cancer and Nutrition (EPIC) study. Metabolites were measured in blood from 392 men from t
Introduction: We investigate the risks of subsequent primary bone cancers after childhood and adolescent cancer in 12 European countries. For the first time, we satisfactorily address the risks beyond 40 years from diagnosis and beyond 40 years of age among all survivors.Methods: This largest-ever assembled cohort comprises 69 460 five-year survivors of cancer diagnosed before age 20 years. Standa
The hitherto unexplored two-photon doubly excited states [Ne∗(2p-13s)]2 were experimentally identified using the seeded, fully coherent, intense extreme ultraviolet free-electron laser FERMI. These states undergo ultrafast interatomic Coulombic decay (ICD), which predominantly produces singly ionized dimers. In order to obtain the rate of ICD, the resulting yield of Ne2+ ions was recorded as a fun
Adaptation of crops to climate change has to be addressed locally due to the variability of soil, climate and the specific socio-economic settings influencing farm management decisions. Adaptation of rainfed cropping systems in the Mediterranean is especially challenging due to the projected decline in precipitation in the coming decades, which will increase the risk of droughts. Methods that can
