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Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals

Lynch syndrome (LS) is an autosomal dominant syndrome that predisposes individuals to development of cancers early in life. These cancers are mainly the following: colorectal, endometrial, ovarian, small intestine, stomach and urinary tract cancers. LS is caused by germline mutations in DNA mismatch repair genes (MMR), mostly MLH1 and MSH2, which are responsible for more than 85% of known germline

Spatial Forecast Verification: Image Warping

In response to a growing need for more informative forecast verification in the face of gridded verification sets, many new methods have been proposed. While widely varying in their approaches, the new methods generally fall into two ma- jor categories of filter and displacement, each of which can be further subdivided. One of the displacement approaches, a field deformation approach known as imag

Mendelian Inheritance Pattern and High Mutation Rates of Microsatellite Alleles in the Diatom Pseudo-nitzschia multistriata.

The diatom Pseudo-nitzschia multistriata exhibits a diplontic life cycle composed of an extensive phase of vegetative cell division and a brief phase of sexual reproduction. To explore genotypic stability, we genotyped seven polymorphic microsatellite loci in 26 monoclonal strains over 3-16 months in a culture maintenance regime. Moreover, to assess inheritance patterns of the microsatellite allel

Longitudinal Associations between Survival in Alzheimer's Disease and Cholinesterase Inhibitor Use, Progression, and Community-Based Services.

Background/Aims: Factors including rate of disease progression, different aspects of cholinesterase inhibitor (ChEI) treatment, and use of community-based services might affect the longitudinal outcome of Alzheimer’s disease (AD). Whether these factors alter life expectancy in AD is unclear. We therefore examined the association between long-term ChEI therapy and survival. Methods: The present stu

Efficient Arsenic Metabolism - The AS3MT Haplotype Is Associated with DNA Methylation and Expression of Multiple Genes Around AS3MT.

Arsenic is a very potent toxicant. One major susceptibility factor for arsenic-related toxicity is the efficiency of arsenic metabolism. The efficiency, in turn, is associated with non-coding single nucleotide polymorphisms (SNPs) in the arsenic methyltransferase AS3MT on chromosome 10q24. However, the mechanism of action for these SNPs is not yet clarified. Here, we assessed the influence of gene

A Novel Model for Computing the Trapping Efficiency and Residual Gas Fraction Validated with an Innovative Technique for Measuring the Trapping Efficiency

The paper describes a novel method for calculating the residual gas fraction and the trapping efficiency in a 2 stroke engine. Assuming one dimensional compressible flow through the inlet and exhaust ports, the method estimates the instantaneous mass flowing in and out from the combustion chamber; later the residual gas fraction and trapping efficiency are estimated combining together the perfect

Aspects of Organizational Psychology and Innovation in Air Traffic Control

In order to adapt to new conditions that increasing air traffic volumes bring forward, the Swedish Air Navigation Services (ANS) is going through a process of change. In order to meet the new conditions it will be necessary to be more efficient in the work of handling the air traffic. New conditions bring forward new demands, not only on technology and methods used, but also on organizational stru

Receiver Front-Ends in CMOS with Ultra-Low Power Consumption

Popular Abstract in Swedish I avhandlingen presenteras delar till radiomottagare med extremt låg effektförbrukning. Detta behövs då dagens samhälle blir allt mer och mer uppkopplat, och detta gäller inte bara persondatorer och mobiltelefoner. Med den snabba teknikutvecklingen inom radiokommunikation, driven av små och smarta mobiltelefoner, går det nu även att få prylar av alla de slag att tala meHistorically, research on radio communication has focused on improving range and data rate. In the last decade, however, there has been an increasing demand for low power and low cost radios that can provide connectivity with small devices around us. They should be able to offer basic connectivity with a power consumption low enough to function extended periods of time on a single battery charge,

Serum triglycerides and cancer risk in the metabolic syndrome and cancer (Me-Can) collaborative study

To assess the association between serum triglyceride levels and cancer risk. The metabolic syndrome and cancer project (Me-Can) includes cohorts from Norway, Austria, and Sweden; the current study included data on 257,585 men and 256,512 women. The mean age at study entry was 43.8 years for men and 44.2 years for women. The mean follow-up time was 13.4 years (SD = 8.5) for men and 11.9 years (SD =

Short- and long-term survival and function of unilateral intrastriatal dopaminergic grafts in Parkinson's disease

Six patients with Parkinson's disease were followed for 10 to 72 months after human embryonic mesencephalic tissue from four to seven donors was grafted unilaterally into the putamen (4 patients) or putamen plus caudate (2 patients). After 8 to 12 months, positron emission tomography showed a 68% increase of 6-L-[18F]-fluorodopa uptake in the grafted putamen, no change in the grafted caudate, and

Mortality risks among heavy-smokers with special reference to women: a long-term follow-up of an urban population

Increased mortality risks associated with smoking are well established among men. There are very few population-based studies comprising a sufficient number of heavily smoking women, measuring the direct effect of smoking on mortality risks. Between 1974 and 1992, 8,499 women and 13,888 men attended a health screening programme including reporting of smoking habits. Individuals were followed for t

The optimal level of R&D -the case of Sweden

Expenditures on R&D in Sweden are the highest of all OECD countries in relation to its GDP. The level of education in Sweden is also among the highest in the OECD area. But despite of this, growth rates of GDP and productivity in Sweden can be considered as average levels compared to similar economies. Therefore, this paper questions whether R&D efforts in Sweden are optimal in a social pe

Acute decrease of coronary flow after indomethacin delivery in newborn lambs.

Aim: To document the effects of indomethacin (IND) on coronary flow. Methods: We studied nine premature lambs during the first day of life. The gestational age varied between 132 and 134 days (term 145 days) and weight 3.1-4.7 kg. Coronary flow velocities were recorded with an intracoronary Doppler guide wire in the proximal left anterior descending coronary artery (LAD). Average peak flow velocit

Processing of raw Cassava (Manihot esculenta) - Experiments and Modelling.

The objective of the present thesis was to understand how the quality and performance of dried cassava products could be developed by drying and other processing steps. This goal was achieved in several stages. First, a survey of the composition of six cassava varieties from Bolivia, was performed, which resulted in the report of chemical and mineral compositions of the tubers. The mineral composi

Outcome After Ruptured AAA Repair in Octo- and Nonagenarians in Sweden 1994-2014

Objective: To report the outcome after ruptured abdominal aortic aneurysm (rAAA) repair in octo- and nonagenarians from the Swedish Vascular Registry 1994-2014. Material and methods: 2335 intact AAA (iAAA) and 1538 rAAA were identified in patients aged 80 years and older. Crude, long-term, and relative survival data were analysed using the Kaplan-Meier method. Crude survival was calculated includi

Increased hepatic fatty acid polyunsaturation precedes ectopic lipid deposition in the liver in adaptation to high-fat diets in mice

OBJECTIVE: We monitored hepatic lipid content (HLC) and fatty acid (FA) composition in the context of enhanced lipid handling induced by a metabolic high-fat diet (HFD) challenge and fasting.MATERIALS AND METHODS: Mice received a control diet (10% of kilocalories from fat, N = 14) or an HFD (45% or 60% of kilocalories from fat, N = 10 and N = 16, respectively) for 26 weeks. A subset of five mice r

Variation in reproductive investment increases body temperature amplitude in a temperate passerine

Many birds and mammals show substantial circadian variation in body temperature, which has been attributed to fluctuations in ambient temperature and energy reserves. However, to fully understand the variation in body temperature over the course of the day, we also need to consider effects of variation in work rate. We made use of a dataset on body temperature during the resting and active periodsMany birds and mammals show substantial circadian variation in body temperature, which has been attributed to fluctuations in ambient temperature and energy reserves. However, to fully understand the variation in body temperature over the course of the day, we also need to consider effects of variation in work rate. We made use of a dataset on body temperature during the resting and active periods

Cumulative exposure to melphalan chemotherapy and subsequent risk of developing acute myeloid leukemia and myelodysplastic syndromes in patients with multiple myeloma

Objectives: The aim of this study was to determine risk factors for development of acute myeloid leukemia/myelodysplastic syndromes (AML/MDS) in patients with multiple myeloma (MM). Methods: We identified all patients diagnosed with MM in Sweden from January 1st, 1958 to December 31, 2011. A total of 26 627 patients were diagnosed with MM with during the study period. Of these, 124 patients (0.5%)