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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
Synaptic pathology occurs early in Alzheimer's disease (AD) development, and cerebrospinal fluid biomarkers for synaptic damage may be altered early in the disease process. In the present study we examined cerebrospinal fluid levels of the postsynaptic protein neurogranin in patients with mild cognitive impairment (MCI) or AD and controls. The low neurogranin level in cerebrospinal fluid required
The Biochemical Methane Potential (BMP) test is increasingly recognised as a tool for selecting and pricing biomass material for production of biogas. However, the results for the same substrate often differ between laboratories and much work to standardise such tests is still needed. In the current study, the effects from four environmental factors (i.e. ambient temperature and pressure, water va
Increasing heat will be a significant problem for Central European cities in the future. Shading devices are discussed as a method to mitigate heat stress on citizens. To analyze the physical processes, which are characteristic of shading in terms of urban human-biometeorology, experimental investigations on the thermal effects of shading by a building and shading by tree canopies were conducted i
Gonyostmum semen is a freshwater raphidophyte that has increased in occurrence and abundance in several countries in northern Europe since the 1980s. More recently, the species has expanded rapidly also in north-eastern Europe, and it is frequently referred to as invasive. To better understand the species history, we have explored the phylogeography of G. semen using strains from northern Europe,
Human embryonic stem cells offer a potential unlimited supply for functional hepatocytes, since they can differentiate into hepatocyte-like cells displaying a characteristic hepatic morphology and expressing various hepatic markers. These cells could be used in various applications such as studies of drug metabolism and hepatotoxicity, which however, would require a significant expression of drug
This study investigates the association between Ronald Inglehart's materialist/postmaterialist index, a psychological aspect of the material pathway to inequalities in health, and health locus of control and psychological health. The data used is from the 2008 public health survey in Skane, a cross-sectional postal questionnaire study with 28,198 respondents (response rate 54%), conducted in south
Genomic aberrations of key regulators of the apoptotic pathway have hardly been identified in neuroblastoma. We detected high BCL2 mRNA and protein levels in the majority of neuroblastoma tumours by Affymetrix expression profiling and Tissue Micro Array analysis. This BCL2 mRNA expression is strongly elevated compared to normal tissues and other malignancies. Most neuroblastoma cell lines lack thi
Purpose: The primary aim was to analyse regional incidences of retinopathy of prematurity (ROP) and frequencies of treatment and their relation to perinatal risk factors during a 3-year period. A secondary aim was to study adherence to the study screening protocol in the different regions. Methods: A population-based study of neonatal morbidity in extremely preterm infants in Sweden (EXPRESS) was
Objectives: Circulating microRNAs (miRNAs) are promising as biomarkers for various diseases. We examined the release patterns of cardiospecific miRNAs in a closed-chest, large animal ischemia-reperfusion model and in patients with ST elevation myocardial infarction (STEMI). Methods: Six anesthetized pigs were subjected to coronary occlusion-reperfusion. Plasma, urine, and clinical parameters were
There are no data on the role of postconsolidation therapy with gemtuzumab ozogamicin (GO; Mylotarg) in children with acute myeloid leukemia (AML). The NOPHO-AML 2004 protocol studied postconsolidation randomization to GO or no further therapy. GO was administered at 5 mg/m(2) and repeated after 3 weeks. We randomized 120 patients; 59 to receive GO. Survival was analyzed on an intention-to-treat b
Objective To assess the accuracy of the Wells rule for excluding deep vein thrombosis and whether this accuracy applies to different subgroups of patients. Design Meta-analysis of individual patient data. Data sources Authors of 13 studies (n=10 002) provided their datasets, and these individual patient data were merged into one dataset. Eligibility criteria Studies were eligible if they enrolled
Background: Maintaining and improving the quality of prosthetics and orthotics education at the Tanzania Training Centre for Orthopaedic Technologists is essential for the provision of appropriate prosthetics and orthotics services in African countries.Objectives: To describe how Tanzanian and Malawian graduates’ of the Diploma in Orthopaedic Technology perceive their education and how it could be
Pure rotational coherent anti-Stokes Raman scattering (CARS) has for the first time been investigated for pressures up to 44 MPa in nitrogen gas at room temperature. An atomic filter consisting of a heated cell with sodium vapour was successfully applied for suppression of stray light originating from the narrowband CARS pump laser beam. With increasing pressure the rotational CARS spectrum is smo
The aim is to investigate the associations between economic stress in childhood and adulthood, and low generalized trust in other people, testing two life course hypotheses. The 2008 public health survey in Scania is a cross-sectional postal/mail questionnaire study in which 28,198 persons aged 18-80 participated (55% participation in the original sample). Logistic regressions were used to analyze
Accurate diagnosis of rare inherited anaemias is challenging, requiring a series of complex and expensive laboratory tests. Targeted next-generation-sequencing (NGS) has been used to investigate these disorders, but the selection of genes on individual panels has been narrow and the validation strategies used have fallen short of the standards required for clinical use. Clinical-grade validation o
Objective Ventricular septal defects (VSDs), if haemodynamically important, are closed whereas small shunts are left without intervention. The long-term prognosis in congenital VSD is good but patients are still at risk for long-term complications. The aim of this study was to clarify the incidence of infective endocarditis (IE) in adults with VSD. Methods The Swedish registry for congenital heart
BACKGROUND: Liver parenchymal injuries such as steatosis, steatohepatitis, fibrosis, and sinusoidal obstruction syndrome can lead to increased morbidity and liver failure after liver resection. Diffuse reflectance spectroscopy (DRS) is an optical measuring method that is fast, convenient, and established. DRS has previously been used on the liver with an invasive technique consisting of a needle t
OBJECTIVE: To evaluate the effect of group-based diabetes dialogue meetings (DDMs) on diabetes distress, perceived competence and glycaemic control.METHODS: Patients with type 1 diabetes (T1D) were invited to DDMs with peers and healthcare professionals. The impact of participation was evaluated by change in diabetes distress measured by Problem Areas in Diabetes (PAID), diabetes competence measur
