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A large pedigree with autosomal dominant frontotemporal dementia has been identified. Positional cloning has linked the disease gene to the pericentromeric region of chromosome 3. Clinical, neuropsychological, imaging, pathological and molecular genetic data are presented. The genetic mutation responsible for the disease has not been identified.
Background: It has previously been shown that magnetic resonance imaging (MRI) can be used to accurately determine left ventricular (LV) long-axis orientation in healthy individuals. However, the inter- and intra-observer variability in patients with acute coronary syndrome (ACS) and chronic heart failure (CHF) has not been explored. Furthermore, the changes in LV long-axis orientation because of
Purpose To collect data for the development of a more universally useful logistic regression model to distinguish between a malignant and benign adnexal tumor before surgery. Patients and Methods Patients had at least one persistent mass. More than 50 clinical and sonographic end points were defined and recorded for analysis. The outcome measure was the histologic classification of excised tissues
Popular Abstract in English A biosensor is an analytical device that combines a transducer with a biological sensing element. This sensor is unique and has played an important role for a broad range of applications including clinical analysis and process monitoring. Between different types of biosensors, the capacitive biosensor has recently gained a lot of interest due to its analytical performanIncreasing demands for highly sensitive, accurate, fast and portable analytical assays have led to the development of new analytical tools. The integration of highly specific biological sensing elements and appropriate transducers has enabled design of even more efficient biosensor devices for the detection of target substances. In a clinical setting, early detection of biomarkers is crucial for
Uppsatsen behandlar huruvida det finns ett samband mellan avtagande vinster i ett företag och större organisatoriska förändringar. Arbetet utgår ifrån föresatser om att företagsvinstcykler varierar med produktlivslängd och konkurrens såväl som att organisatorisk förändring är en kontinuerligt pågående process som stegvis sker utifrån förändringstryck. Uppsatsens mål är att se om det finns en korre
Populärvetenskaplig sammanfattning: Röjningsrösen kan härstamma från bronsålder och ända in i modern tid. De är svåra att datera då det inte finns några karaktäristika för ett röse som skapats under en viss tidsepok. Röjningsröseområden är likväl en stor källa till kunskap om hur jorden brukats under förhistorisk och historisk tid. Med hjälp av paleoekologi kan den förhistoriska miljön studeras. PIn the village Berg, Gällared’s parish, Halland, there is an area with 60 to 75 hectares of abandoned arable fields is present. Within Berg, Yttra Berg’s nature reserve is situated, where 9 hectares of the abandoned arable fields has been recorded, consisting of clearance cairns, terraces and stone walls. Close to the recorded abandoned arable fields a smaller bog, Sänkemosse, is situated. Nearby
RNA methylations are essential both for RNA structure and function, and are introduced by a number of distinct methyltransferases (MTases). In recent years, N6-methyladenosine (m6A) modification of eukaryotic mRNA has been subject to intense studies, and it has been demonstrated that m6A is a reversible modification that regulates several aspects of mRNA function. However, m6A is also found in oth
The human methyltransferases (MTases) METTL21A and VCP-KMT (METTL21D) were recently shown to methylate single lysine residues in Hsp70 proteins and in VCP, respectively. The yet uncharacterized MTase encoded by the YNL024C gene in Saccharomyces cerevisiae shows high sequence similarity to METTL21A and VCP-KMT, as well as to their uncharacterized paralogues METTL21B and METTL21C. Despite being most
BACKGROUND: Accurate inflammation reporting in capsule endoscopy (CE) is important for diagnosis and monitoring of treatment of inflammatory bowel disease (IBD). Fecal calprotectin (FC) is a highly specific biomarker of gut inflammation. Lewis score (LS) was developed to standardize quantification of inflammation in small-bowel (SB) CE images.GOALS: Multicenter retrospective study aiming to invest
Therapy directed against oncogenic FLT3 has been shown to induce response in patients with acute myeloid leukemia (AML), but these responses are almost always transient. To address the mechanism of FLT3 inhibitor resistance, we generated two resistant AML cell lines by sustained treatment with the FLT3 inhibitor sorafenib. Parental cell lines carry the FLT3-ITD (tandem duplication) mutation and ar
Expression of antibodies inside cells has been used successfully to ablate protein function. This finding suggests that the technology should have an impact on disease treatment and in functional genomics where proteins of unknown function are predicted from genomic sequences. A major hindrance is the paucity of antibodies that function in eukaryotic cells, presumably because the antibodies fold i
The influence of flip angle and flow velocity on the signal intensity achieved when imaging a hyperpolarized substance with a spoiled gradient echo sequence was investigated. The study was performed both theoretically and experimentally using hyperpolarized xenon dissolved in ethanol. Analytical expressions regarding the optimal flip angle with respect to signal and the corresponding signal level
An immunoradiometric assay of factor IX was developed based on homologous antibodies that arose in a hemophilic patient. With this assay, 11 of 12 patients with severe hemophilia B had factor IX antigen levels below 1 U/dl and 6 patients with mild hemophilia B had various levels. Factor IX antigen in 8 fetuses (16th-20th gestational week) aborted for therapeutic reasons ranged from 1.8 to 10.0 U/d
Retinopathy of prematurity is a potentially blinding disease, which is associated with low neonatal IGF-I serum concentrations and poor growth. In severe cases impaired retinal vessel growth is followed by pathologic neovascularization, which may lead to retinal detachment. IGF-I may promote growth even in catabolic states. Treating preterm infants with recombinant human (rh) IGF-I to concentratio
OBJECTIVE: We hypothesized that specific mutations in the β-glucocerebrosidase gene (GBA) causing neuropathic Gaucher's disease (GD) in homozygotes lead to aggressive cognitive decline in heterozygous Parkinson's disease (PD) patients, whereas non-neuropathic GD mutations confer intermediate progression rates.METHODS: A total of 2,304 patients with PD and 20,868 longitudinal visits for up to 12.8
BACKGROUND: Current clinical assessments of motor function in Huntington's Disease (HD) rely on subjective ratings such as the Unified Huntington's Disease Rating scale (UHDRS). The ability to track disease progression using simple, objective, inexpensive, and robust measures would be beneficial.METHODS: One objective measure of motor performance is hand-tapping. Over the last 14 years we have rou
Molecular dynamics simulations, binding free energy calculations, principle component analysis (PCA), and residue interaction network analysis were employed in order to investigate the molecular mechanism of M184I single mutation which played pivotal role in making the HIV-1 reverse transcriptase (RT) totally resistant to lamivudine. Results showed that single mutations at residue 184 of RT caused
