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Consanguinity and genetic diseases in North Africa and immigrants to Europe.

Endemic diseases are caused by environmental and genetic factors. While in this special issue several chapters deal with environmental factors, including infections, the present focus is on genetic causes of disease clustering due to inbreeding and recessive disease mechanisms. Consanguinity is implying sharing of genetic heritage because of marriage between close relatives originating from a comm

Development and Assessment of Users' Satisfaction with the Systemic Lupus Erythematosus Disease Activity Index 2000 Responder Index-50 Website.

OBJECTIVE: To describe the development of the Systemic Lupus Erythematosus Disease Activity Index 2000 Responder Index-50 (S2K RI-50) Website (www.s2k-ri-50.com) and to assess satisfaction with its training and examination modules among rheumatologists and rheumatology fellows. METHODS: The development of the Website occurred in 3 phases. The first was a deployment phase that consisted of preparin

Experiences of living with advanced colorectal cancer from two perspectives - Inside and outside.

PURPOSE: To investigate how life situation by persons with advanced colorectal cancer and their partners is affected by living with the disease and its treatment. METHOD: Separate, individual interviews were made with persons with advanced colorectal cancer (n = 12) and their partners (n = 9) about how their daily lives were affected by the disease and its treatment. The verbatim transcripts were

Frequent alterations of the PI3K/AKT/mTOR pathways in hereditary nonpolyposis colorectal cancer.

The phosphatidylinositol 3-kinases-AKT-mammalian target of rapamycin pathway (PI3K/AKT/mTOR) is central in colorectal tumors. Data on its role in hereditary cancers are, however, scarce and we therefore characterized mutations in PIK3CA and KRAS, and expression of PIK3CA, phosphorylated AKT, and PTEN in colorectal cancers linked to hereditary nonpolyposis colorectal cancer (HNPCC). Sequencing was

HLA DR-DQ Genotyping by Capillary Electrophoresis for Risk Assessment for Celiac Disease.

The risk for celiac disease (CD) is clearly related to specific HLA DQA1 and DQB1 alleles, but HLA -typing is often considered too costly for frequent use.Here we present a method using sequence-specific primed PCR (PCR-SSP) for HLA-DR-DQ genotyping optimized for capillary electrophoresis on Applied Biosystems 3130xl Genetic Analyzer. Requiring a total of three PCR reactions and a single electroph

Older Adults' Medication Use 6 Months Before and After Hip Fracture: A Population-Based Cohort Study.

OBJECTIVES: To study changes in use of fall-risk increasing drugs (FRIDs) and bone density-related medication in participants with hip fracture before and after the fracture and to analyze differences between five healthcare districts. DESIGN: Population-based cohort study. SETTING: Data retrieved from two national databases PARTICIPANTS: All 2,043 people with hip fracture aged 60 and older in a S

Subsequent Autoimmune or Related Disease in Asthma Patients: Clustering of Diseases or Medical Care?

PURPOSE: Asthma includes immunological components that may share mechanisms with autoimmune diseases. We analyzed the subsequent occurrence of any of 22 autoimmune and related conditions in hospitalized asthma patients. METHODS: A nationwide study was conducted in Sweden on subsequent diseases of asthma patients on the basis of the Hospital Discharge Register. Standardized incidence ratios (SIRs)

Early-term Birth (37-38 Weeks) and Mortality in Young Adulthood.

BACKGROUND:: Early-term birth (gestational age, 37-38 weeks) has been associated with increased infant mortality relative to later-term birth, but mortality beyond infancy has not been studied. We examined the association between early-term birth and mortality through young adulthood. METHODS:: We conducted a national cohort study of 679,981 singleton births in Sweden in 1973-1979, followed up for

Transmission Electron Microscopy of Nanowires: Influence of Doping and Etching on Polytypism in InP

Semiconductor nanowires have many properties which makes them interesting for future electronic devices. The fact that they have very small diameters allow them to combine different III-V materials into heterostructures, and makes it possible to grow them on Si substrates which are the basis of nearly all current semiconductor technology. It also allows them to adopt the wurtzite crystal structure

Frequency and Intensity of Alcohol Consumption: New Evidence from Sweden

This paper provides an extensive analysis of the demand for alcohol in terms of total quantity and quantity subdivided into frequency and intensity demand. The analysis compares across alcohol types (beer, wine and spirits), alcohol drinking pattern (average drinker vs. binge drinkers) and also how these decisions differ across gender. The analysis is based on a large sample of cross-sectional dat

Implementation of an economic model to simulate manufacturing costs

An economic model describing manufacturing costs is implemented within the frame of a case study. The implemented economic model is developed to enable analyses of the cost items and parameters influencing the cost of a part or a batch and also to make simulations for the purpose of investigating the economic outcome of future development activities. The aim of the case study was to identify activ