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Recently, a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72 was reported as the cause of chromosome 9p21-linked frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS). We here report the prevalence of the expansion in a hospital-based cohort and associated clinical features indicating a wider clinical spectrum of C9ORF72 disease than previously described. We studie
Secrecy is a theme in Genesis 22, in Derrida's reading of the story, in which God commands Abraham to sacrifice Isaac. It is about keeping a secret, not secret as in hiding, but rather the secret of an exclusive relationship. This is embarrassing as it is excluding. Accepting this unique relationship by keeping the secret, Abraham demonstrates his willingness to enter into a relationship based on
A genetic variant within the CHRNA5-CHRNA3-CHRNB4 region (rs1051730), previously associated with smoking quantity, was recently shown to interact with smoking on obesity predisposition. We attempted to replicate this finding in the Gene-Lifestyle Interactions and Complex Traits Involved in Elevated Disease Risk (GLACIER) Study, a prospective cohort study of adults from northern Sweden (n = 16,426)
OBJECTIVES: Low back pain (LBP) affects most people at some stage in life. However, the burden on the health care system is unclear. We studied: 1) the one-year consultation prevalence 2) the rate of first-time consultation for LBP and related the frequency to other musculoskeletal conditions and 3) the health care utilization of LBP patients compared to the general population. METHODS: Using th
We have investigated multiphoton multiple ionization dynamics of xenon atoms using a new x-ray free-electron laser facility, SPring-8 Angstrom Compact free electron LAser (SACLA) in Japan, and identified that Xen+ with n up to 26 is produced at a photon energy of 5.5 keV. The observed high charge states (n >= 24) are produced via five-photon absorption, evidencing the occurrence of multiphoton abs
Objective Based on the concept of value creation the aim was to analyse a sample of patients’ unstructured responses, and to show what the patients perceived to be healthcare values. Method Using content analysis the patients’ responses to three questions underwent a categorization involving the identification, coding, and emerging of themes. Results This is good: The result was; fellow feel
Gene expression profiling has been used extensively to characterize cancer, identify novel subtypes, and improve patient stratification. However, it has largely failed to identify transcriptional programs that differ between cancer and corresponding normal cells and has not been efficient in identifying expression changes fundamental to disease etiology. Here we present a method that facilitates t
There is currently a high demand for spatial data usage within web applications. From a technical viewpoint, web services and geoportals aim to fulfil user requirements; however, the current cartographic methods do not satisfy the needs of the end users. The problem is more challenging when the final map contains data from various sources that have various cartographic characteristics; therefore,
This study investigates associations between perceived micro-level urban design qualities, the affective experience of walking, and intention to walk specific routes in the neighbourhood. A total of 106 residents assessed on-site three routes planned for walking in semi-central neighbourhoods. In the prediction of the residents’ intention to choose to walk and intention to avoid walking the route,
The analytical framework of regional innovation systems highlights the systemic nature of regional economies and the need for policy coordination within regions. Coordination presupposes an understanding of the underlying problems that may act as barriers to regional development. Three generic problems facing regions are: lack of resources (e.g. human and financial capital), negative lock-in (e.g.
Abstract in UndeterminedWe show experimentally that gaseous CO2 intercalates into the interlayer space of the synthetic smectite clay Na-fluorohectorite at conditions nottoo far from ambient. The mean interlayer repetition distance of the clay when CO2 is intercalated is found to be 12.5 Å for the conditions −20 °C and 15 bar. The magnitude of the expansion of the interlayer upon intercalation is
Horismenus abnormicaulis sp. nov., H. patensis sp. nov. and H. zuleidae sp. nov. (Hymenoptera: Eulophidae), all authored by Pikart, Costa & Hansson, are described from material obtained from seed pods of Pithecellobium dulce (Roxb.) Benth. (Fabaceae) collected in Northeastern Brazil. The seed pods were infested with larvae of Coleoptera (Chrysomelidae (Bruchinae) and Curculionidae). The associ
In the randomized rapid intravascular cooling in myocardial infarction as adjunctive to percutaneous coronary intervention (RAPID MI-ICE) and rapid endovascular catheter core cooling combined with cold saline as an adjunct to percutaneous coronary intervention for the treatment of acute myocardial infarction CHILL-MI studies, hypothermia was rapidly induced in conscious patients with ST-elevation
Originally studied in relation to aging and cancer research, telomerase is now also investigated in relation to psychiatric disorders and treatments. Based on emerging clinical and preclinical data, we hypothesise that telomerase activation could represent a novel element mediating the mechanism of action of certain psychopharmacological interventions (e.g. antidepressants, lithium and antipsychot
Various scaffolds, natural or artificial, have been used for neural repair, including basal lamina scaffolds obtained through extraction of nerves. Here we tested whether plastic casts of such preparations could be used for neurite guidance. To this end, longitudinal micron thick sections of rat sciatic nerve were extracted with detergents and treated with Dnase, yielding an acellular basal lamina
The etiology of leukemias cannot entirely be explained by known risk factors, including ionizing radiation, benzene exposure, and infection with human T cell leukemia virus. A number of studies suggested that diet influences the risk of adult leukemias. However, results have been largely inconsistent. We examined the potential association between dietary factors and risk of leukemias among partici
BackgroundVascular leakage and oedema formation are key components in sepsis. In septic patients, plasma levels of the vasoconstrictive and pro-inflammatory peptide endothelin-1 (ET-1) correlate with mortality. During sepsis, neutrophils release heparin-binding protein (HBP) known to increase vascular permeability and to be a promising biomarker of human sepsis. As disruption of ET-signalling in e
Purpose: Lynch syndrome is caused by a germline mutation in a mismatch repair gene, most commonly the MLH1 gene. However, one third of the identified alterations are missense variants with unclear clinical significance. The functionality of these variants can be tested in the laboratory, but the results cannot be used for clinical diagnosis. We therefore aimed to establish a laboratory test that c
