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Mutations in the genes that code for collagen VI subunits, COL6A1, COL6A2, and COL6A3, are the cause of the dominantly inherited disorder, Bethlem myopathy. Glycine mutations that interrupt the Gly-X-Y repetitive amino acid sequence that forms the characteristic collagen triple helix have been defined in four families; however, the effects of these mutations on collagen VI biosynthesis, assembly,
Fatty acids (FA) have crucial functions in animals, affecting e.g. inflammatory responses, thermoregulation, and cell membrane fluidity. Diet and ambient temperature affect animals’ FA composition, which, in turn, may influence these physiological processes. Great tit (Parus major) −common in both urban and rural habitats− are mainly granivorous during winter and insectivorous during summer. These
Introduction Reporting estimated glomerular filtration rate (eGFR) instead of serum concentrations is advised in current guidelines. Most creatinine-based eGFR equations for children require height, a parameter not readily available to laboratories. Combining height-dependent creatinine- and cystatin C-based eGFR improves performance. Recently, a height-independent creatinine-based eGFR equation h
Objective: To study the difference in incidence and risk of fragility fractures between rheumatoid arthritis (RA) patients followed up early in the disease and the general population in Sweden; and the fracture risk changes in RA patients diagnosed in the 1990s and 2000s because of earlier, more potent pharmacological treatment in the later period. Method: Patients with early RA were recruited fro
New robot applications increasingly require external sensing to accomplish robustness and performance despite the variations and uncertainties that come with the increasing demands on flexibility for manufacturing of customized products. The demands on productivity then require high performance, which for well known feedback-control reasons means short response times from external process event to
Att sluta begå brott handlar inte enbart om förändrade handlingar, utan också om hur individer omformulerar vem de är. Denna avhandling analyserar hur unga personer med erfarenhet av kriminalitet konstruerar och förhandlar sina identiteter i berättelser om brottsdebut, fortsatt brottslighet och upphörande med brott. Avhandlingen behandlar tre centrala frågor: (1) Vilka innehållsmässiga komponenterIn this thesis I explore how young people with a criminal record choose to construct and negotiate their identities in narratives about debut offences, re-offending, and desistance. I address three key questions: (1) What content-related components are central to young people’s narratives of desistance? (2) What linguistic and cultural resources do young people draw on to present themselves as cre
Evolutionary changes in populations of microbes, such as microalgae, cannot be traced using conventional metabarcoding loci as they lack intraspecific resolution. Consequently, selection and competition processes among strains of the same species cannot be resolved without elaborate isolation, culturing, and genotyping efforts. Bamboozle, a new bioinformatic tool introduced here, scans the entire
PurposeDespite advances in medical care, bacterial meningitis still poses a considerable health issue from a global perspective. An ageing population and increasing development and use of vaccines are likely to affect the incidence and aetiology. The aim of this study was to describe the incidence and aetiology of community-acquired bacterial meningitis (CABM) in our setting, as well as the seroty
Popular Abstract in Swedish Avstår barn i fattiga länder från utbildning framförallt för att de är fattiga eller för att de upplever att skolan inte har något meningsfullt att erbjuda? Svaret på den frågan har stor betydelse för vilken politik som bör föras. Ett empiriskt bidrag till en sådan frågeställning är i vilken utsträckning som utbildning kan tänkas vara ett ?lönsamt? alternativ för indiviWhy do some children in the developing world choose to stay out of school? Is it mainly because poverty leaves them with no options or because schooling seems to offer them few benefits? The answers to these questions have profound policy implications. An empirical input into this discussion is the extent to which schooling can actually be perceived as a profitable option in various countries and,
Popular Abstract in Swedish Ehrlichia hos människor och djur Fästingburna infektioner uppmärksammas alltmer både hos människor och djur. Fästingar har visat sig kunna överföra flera olika infektiösa agens som till exempel borrelia- och ehrlichiabakterier, tick-borne encephalitis (TBE)-virus och babesia-parasiter. De i Skandinavien förekommande ehrlichia-bakterierna Ehrlichia phagocytophila, orsakEhrlichia phagocytophila is a tick-borne pathogen of domestic animals, which has recently been acknowledged also as a human pathogen. It is a strictly intracellular bacterium, infecting granulocytes of the host, sometimes resulting in clinical disease - granulocytic ehrlichiosis - with manifestations ranging from mild flu-like conditions to severe infections with multi-organ failure and death. Thi
The sperm chromatin structure assay (SCSA) parameter DNA fragmentation Index (DFI) is a valuable tool for prediction of fertility in vivo. Clinical data show that a DFI above 30% is associated with very low chance for achieving pregnancy by natural conception or by insemination. Already when DFI is above 20% the chance of natural pregnancy is reduced, this despite normal conventional semen paramet
Objective To characterise the performance of beta -cell during a standard oral glucose tolerance test (OGTT). Design Fifty-six subjects were studied. A minimal analogic model of beta -cell secretion during the OGTT was applied to all OGTTs (see below). The amount of insulin secreted over 120' in response to oral glucose (OGTT-ISR; Insulin Units 120'(-1) m(-2) BSA) and an index of beta -cell secret
Cornelia de Lange syndrome (CdLS; OMIM 122470) is a rare multiple congenital anomaly/mental retardation syndrome characterized by distinctive dysmorphic facial features, severe growth and developmental delay and abnormalities of the upper limbs. About 50% of CdLS patients have been found to have heterozygous mutations in the NIPBL gene and a few cases were recently found to be caused by mutations
During the 1920s, when the Swedish defence was under heavy debate, military and conservative forces on the right tried to turn the Swedish public opinion towards a climate more in favour of the defence by producing a big budget war film – Karl XII. In several senses the film became a great success. In Sweden the attendance figures were as high as one million (of a population of six) and the film w
Sverige är sedan 1971 ansluten till FN-konventionen om avskaffande av alla former av rasdiskriminering. Konventionen tillkom som en reaktion mot rasdiskriminerande förtryck i form av apartheid och kolonialism. Varje konventionsstat är enligt konventionens art. 4(b) skyldig att olagligförklara och förbjuda organisationer som främjar och uppmanar till rasdiskriminering. Trots upprepad kritik från In 1971, Sweden ratified the United Nations convention on the elimination of all forms of racial discrimination. It was established as a reaction to racial oppression, such as apartheid and colonialism. All state parties are, under article 4, obliged to prohibit and criminalise organisations who in any way promote or encourage racial discrimination. Sweden has, in spite of criticism from the conve
Mål och syfte: Syftet med detta examensarbete är att undersöka byggherrens behov och nytta av att styra bygglogistiken i ett tidigt skede samt förstå hur hanteringen av bygglogistiken kan påverka valet av upphandlingsstrategi. Problemformulering: Idag finns det en gråzon i byggbranschen mellan logistiklösningarna och de behov som byggherren ska uppfylla. Byggherren har stora möjligheter att påverPurpose: The purpose of this master thesis is to investigate the developer’s needs and benefits of managing building logistics at an early stage and understand how the management of construction logistics can influence the choice of procurement strategy. Problem: Today, there is a gray area in the construction industry between the logistics solutions and the needs that the developer must fulfill.
Området för läkemedelsutveckling genom kliniska prövningar står inför stora utmaningar i och med tillämpningen av EU:s nya dataskyddsförordning, GDPR. Förordningen ska tillämpas på all behandling av personuppgifter som sker inom EU eller kopplat till unionen. Detta får enorm påverkan på alla organisationer som hanterar personuppgifter, inom alla branscher. Den organisation som handlar i strid mot The area of drug development through clinical trials is facing major challenges in the application of the EU's new data protection regulation, GDPR. The Regulation applies to all processing of personal data that occurs within the EU or linked to the Union. This causes a significant impact on all organizations that handle personal data, in all industries. Organizations not acting in accordanc
