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Objective: To perform genetic linkage analysis in a family affected with ALS and frontotemporal dementia (FTD). Methods: The authors performed a genome-wide linkage analysis of a four-generation, 50-member Scandinavian family in which five individuals were diagnosed with ALS and nine with FTD. Linkage calculations assuming autosomal dominant inheritance of a single neurodegenerative disease manife

Popular Abstract in Swedish Många olika proteiner kan produceras med hjälp av rekombinanta DNA tekniker. Ofta sätts vektorn som kodar för det rekombinanta proteinet in i bakterien E. coli, då den är välkänd. Det är viktigt att producera mycket celler för att uppnå hög produktivitet. Detta görs genom att näringsämnet (ofta glukos) tillsätts kontinuerligt till en så kallad semisats reaktor. TillsatsThe recombinant DNA techniques have made it possible to produce many different proteins for a wide range of applications. The vector encoding for the recombinant protein is often inserted in the bacterium E. coli as it is a well studied and a well-known organism. To achieve a high productivity, it is important to reach a high cell density. This is obtained through fed-batch operation where the nut

Popular Abstract in Swedish Ett nytt EU-direktiv om uttjänta fordon har nyligen antagits. Direktivet kräver att från och med 2006 skall 85% av bilens vikt återvinnas och 95% från och med år 2015. Idag återvinns cirka 80%. Bildemonteringsindustrin har valts som studieobjekt i denna avhandling. De höjda återvinningskraven förväntas leda till att bildemonteringsindustrin genomgår omfattande rationaliA new EU directive on used vehicles has recently been introduced. It demands that for every scrapped car, at least 85% by weight must be recycled by the year 2006 and 95% by 2015. The current level is about 80%. The car disassembly industry was chosen as the study object of this thesis. Due to the increased demands on recycling, the disassembly industry may undergo comprehensive rationalizations a

Whole-lake additions of dissolved inorganic C-13 were used to measure allochthony (the terrestrial contribution of organic carbon to aquatic consumers) in two unproductive lakes (Paul and Peter Lakes in 2001), a nutrient-enriched lake (Peter Lake in 2002), and a dystrophic lake (Tuesday Lake in 2002). Three kinds of dynamic models were used to estimate allochthony: a process-rich, dual-isotope flo

This thesis aims to reconstruct and explain variations in storm activity, humidity, vegetation composition and land cover in south-west Sweden during the past 6500 years. Two ombrotrophic bogs, Store Mosse and Undarsmosse, situated on the coastal plain of Halland, were selected for this purpose. The coastal plain of Halland is positioned in the cyclone path and is therefore particularly sensitive

We have identified a novel von Willebrand factor/fibrinogen/selectin-independent, platelet adhesion-promoting function of vascular PG-M/versicans that may be relevant in normal venous thrombosis and critical in atherosclerotic conditions. A purification scheme was devised to obtain vascular versicans, which by biochemical, immunochemical, and ultrastructural means were asserted to be 1) composed p

The issue of Critical Raw Materials (CRMs) and potential interruptions to their availability due to shortages, trade restrictions or other factors in their supply are topics that are relatively unknown to the general public. For this reason, education has been promoted as a key enabler of a circular economy. One key intervention point is the movement of electronic repair events. Repair events alre

Hypomyelination is observed in the context of a growing number of genetic disorders that share clinical characteristics. The aim of this study was to determine the possible role of magnetic resonance imaging pattern recognition in distinguishing different hypomyelinating disorders, which would facilitate the diagnostic process. Only patients with hypomyelination of known cause were included in thi

Early aetiological diagnosis is of paramount importance for childhood dystonia because some of the possible underlying conditions are treatable. Numerous genetic and non-genetic causes have been reported, and diagnostic workup is often challenging, time consuming and costly. Recently, a paradigm shift has occurred in molecular genetic diagnostics, with next-generation sequencing techniques now all

Recent evidence has shown that D-amino acids are present in animals and humans in high concentrations and fulfill specific biological functions. In the central nervous system, two D-amino acids, D-serine and D-aspartate, occur in considerable concentrations. D-Serine is synthesized and metabolized endogenously and the same might account for D-aspartate. D-Serine has been studied most extensively a

Objective: We hypothesized that morphine has a depressing effect on early brain activity, assessed using quantitative aEEG/EEG parameter and depressed activity will be associated with brain volumes at term in extremely preterm infants. Study design: 174 preterm infants were enrolled in 3 European tertiary NICUs (mean GA:26 ± 1wks) and monitored during the first 72 h after birth with continuous 2 c

The cat (Felis catus, Linneaus 1758) has lived around or with humans for at least 10,000 years, and is now one of the most popular pets of the world with more than 600 million individuals [1], [2]. Domestic cats have developed a more extensive, variable and complex vocal repertoire than most other members of the Carnivora, which may be explained by their social organisation, their nocturnal activi

Human 6-sulfo LacNac-positive (slan+) cells have been subject to a paradigm debate. They have previously been classified as a distinct dendritic cell (DC) subset. However, evidence has emerged that they may be more related to monocytes than to DCs. To gain deeper insight into the functional specialization of slan+ cells, we have compared them with both conventional myeloid DC subsets (CD1c+ and CDHuman 6-sulfo LacNac-positive (slan+) cells have been subject to a paradigm debate. They have previously been classified as a distinct dendritic cell (DC) subset. However, evidence has emerged that they may be more related to monocytes than to DCs. To gain deeper insight into the functional specialization of slan+ cells, we have compared them with both conventional myeloid DC subsets (CD1c+ and CD

Background: Given that metformin is the most common pharmacological therapy for type 2 diabetes, understanding the function of this drug is of great importance. Hepatic metformin transporters are responsible for the pharmacologic action of metformin. However, epigenetics in genes encoding metformin transporters has not been fully elucidated. We examined the DNA methylation of these genes in the li

Regulation of C4b-binding protein (C4BP) isoforms during acute phase and its relationship to the plasma concentration of free protein S was elucidated. An assay for β chain containing C4BP (C4BPβ+) was developed and the concentrations of total C4BP, C4BPβ+, total, free, and bound protein S were measured in patients with acute-phase response. Even though total C4BP was increased to 162% (mean value

Methods: Three hundred and eighty newly diagnosed ANCA-associated vasculitis patients from six European multicentre studies treated with AZA maintenance were included; 58% were male, median age at diagnosis 59.4 years (interquartile range: 48.3-68.2 years); granulomatosis with polyangiitis, n = 236; microscopic polyangiitis, n = 132; or renal limited vasculitis, n = 12. Patients were grouped accor