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Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder. Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341 independent patients with achromatopsia. In
We examined the association between self-reported consumption of fruits and vegetables and prostate cancer risk in the European Prospective Investigation into Cancer and Nutrition (EPIC). Data on food consumption and complete follow-up for cancer incidence were available for 130,544 men in 7 countries recruited into EPIC between 1993 and 1999. After an average of 4.8 years of follow-up, there were
Although multiple system atrophy (MSA) is a neurodegenerative disorder leading to progressive disability and decreased life expectancy, little is known about patients' own evaluation of their illness and factors associated with poor health-related quality of life (Hr-QoL). We, therefore, assessed Hr-QoL and its determinants in MSA. The following scales were applied to 115 patients in the European
A significant proportion of familial breast cancers cannot be explained by mutations in the BRCA1 or BRCA2 genes. We applied a strategy to identify predisposition loci for breast cancer by using mathematical models to identify early somatic genetic deletions in tumor tissues followed by targeted linkage analysis. Comparative genomic hybridization was used to study 61 breast tumors from 37 breast c
Objective: To evaluate the consumption of added fats and oils across the European centres and countries participating in the European Prospective Investigation into Cancer and Nutrition (EPIC). Design and setting: 24-Hour dietary recalls were collected by means of standardised computer-guided interviews in 27 redefined EPIC centres across 10 European countries. Subjects: From an initial number of
Background: Oral contraceptive use has been associated with an increase in the risk of breast cancer in young women. We examined whether this association is seen in women at high risk of breast cancer because they carry a mutation in one of two breast cancer susceptibility genes, BRCA1 and BRCA2. Methods: We performed a matched case-control study on 1311 pairs of women with known deleterious BRCA1
This thesis is based on five papers (A-E), all treating various applications of Rice's formula. The areas of application are oceanographic and environmental problems. The first three papers treat properties of encountering waves, that is, waves that a ship encounters while sailing on the ocean. Paper A addresses the problem of computing the intensity of such waves and, in particular, the intensit
A simplification of the laminin nomenclature is presented. Laminins are multidomain heterotrimers composed of alpha, beta and gamma chains. Previously, laminin trimers were numbered with Arabic numerals in the order discovered, that is laminins-1 to -5. We introduce a new identification system for a trimer using three Arabic numerals, based on the alpha, beta and gamma chain numbers. For example,
Popular Abstract in Swedish Genetisk information lagras i DNA, som är en mycket stabil molekyl. I våra celler finns samma gener i alla celler. Det är därför av yttersta vikt att uttrycket av generna kan regleras olika i olika vävnader. Bakterier, som är encelliga organismer, måste för att kunna överleva noga kontrollera uttrycket av olika gener beroende på växlingar i omgivningen. Jag har studeratGenetic information, which is stored in DNA, is transferred to messenger RNA (mRNA) in a process called transcription. mRNAs are then translated by ribosomes into proteins which, with some important exceptions, catalyze chemical reactions in cells. Since cells must be able to adapt to changes in the environment, mRNAs must be unstable. The present investigation concerns mRNA degradation mainly in
Denna rapport är skriven inom kursen ”VBRN70 - Brandteknisk riskvärdering” vid Lunds Tekniska Högskola. Rapporten omfattar en brand- och utrymningsanalys av Kungliga Dramatiska Teatern i Stockholm med fokus på personsäkerhet. Analysen inleddes med ett platsbesök för att få bättre kännedom om objektet. Utifrån observationer från platsbesöket och tillgänglig statistik identifierades därefter flertaThis report is a part of the course ”VBRN70 - Brandteknisk riskvärdering” given by Lund University of Technology. The report presents a fire and risk evaluation of the Royal Dramatical Theatre in Stockholm with focus on the safety of people in the building. The analysis started with a site visit to gain more knowledge of the object. From observations from the visit and available statistics on fi
Syftet med detta examensarbete är att studera hur punkt 3.2.1 i Svensk kod för bolagsstyrning har implementerats av bolag på Large Cap-listan och huruvida förändringar i styrelse-sammansättningar har skett sedan den trädde i kraft den 1 juli år 2005. Syftet är även att granska respondenternas syn på huruvida en lag om kvotering vore lämplig för svenska börsbolag. Därtill vill författarna ge försla
Objective Fetal and neonatal alloimmune thrombocytopenia (FNAIT) is a rare disease that can result in severe bleeding in a fetus or newborn, including intracranial hemorrhage. Maternal-fetal human platelet antigen (HPA)-1a incompatibility is a prerequisite to maternal HPA-1a alloimmunization, which may result in FNAIT. The risk of HPA-1a alloimmunization is approximately 25-times higher in HPA-1
Occurring at rates up to 6-7 syllables per second, speech perception and understanding involves rapid identification of speech sounds and pre-activation of morphemes and words. Using event-related potentials (ERPs) and functional magnetic resonance imaging (fMRI), we investigated the time-course and neural sources of pre-activation of word endings as participants heard the beginning of unfolding wOccurring at rates up to 6-7 syllables per second, speech perception and understanding involves rapid identification of speech sounds and pre-activation of morphemes and words. Using event-related potentials (ERPs) and functional magnetic resonance imaging (fMRI), we investigated the time-course and neural sources of pre-activation of word endings as participants heard the beginning of unfolding w
Popular Abstract in Swedish Avhandlingen berör det så kallade "struktur och rörelse"-problemet som är centralt inom datorseendefältet. Målet är att givet tvådimensionella bilder av ett föremål, kunna återskapa dess tredimensionella form och koordinater i rummet, dvs strukturen, samtidigt med kamerans position relativt objektet i varje bild, dvs rörelsen. Inom robotiken kallas tekniken för "simultaThis thesis presents contributions to structure-and-motion estimation, a central topic in the field of geometric computer vision. In particular, the problem of view planning is considered, and continuous and discrete optimization-based algorithms are given for how to plan the path of a sensor to its destination, while balancing the competing goals of path length and reconstruction accuracy. The sa
Det första skedet när ett byggnadsverk ska uppföras är det konceptuella designskedet, det är här de första besluten om utformningen av byggnadsverket görs. I det traditionella arbetsflödet utformas byggnadsverket först i ett ritprogram, sedan används ett annat datorverktyg för att verifiera att det utformade byggnadsverket kan hantera de krafter som uppstår, t.ex. vind, egentyngd osv. Detta arbeteBefore a new structure can be built, it must be designed. This design phase is a very important step in the building process. The total cost of the structure and its structural performance are largely dependent on the structural design process. The impact of decisions on the design process is initially high and declines as the design matures. However, few computational tools are available for the
