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Haemophilia B mutations in a complete Swedish population sample : a test of new strategy for the genetic counselling of diseases with high mutational heterogeneity

Carrier and prenatal diagnosis based on the identification of the gene defect (direct diagnosis) increases the proportion of haemophilia B families that can be offered precise genetic counselling from the 50-60% attainable by DNA markers, to 100%, and they also provide information on the molecular biology of the disease. We propose that in order to maximize the practical and scientific benefits of

Identifying root causes of inefficiencies in road haulage: case studies from Sweden, Switzerland and Germany

Road haulage operations in general, and distribution in particular, are inefficient. Given the societal importance of road haulage and the low efficiency of the sector, road hauliers need to improve their operations and systematically tackle inefficiencies. However, the real causes of these inefficiencies, the “root causes”, have not been sufficiently examined in previous studies. This paper expanRoad haulage operations in general, and distribution in particular, are inefficient. Given the societal importance of road haulage and the low efficiency of the sector, road hauliers need to improve their operations and systematically tackle inefficiencies. However, the real causes of these inefficiencies, the “root causes”, have not been sufficiently examined in previous studies. This paper expan

Large scale tertiary filtration – results and experiences from the discfilter plant at the Rya WWTP in Sweden

This paper summarizes the results and experiences from the full-scale discfilter plant at the Rya WWTP. In 2010 the WWTP was extended with post-denitrification and a discfilter plant for tertiary filtration of the effluent in order to meet the new discharge limits of 10 mg total nitrogen and 0.3 mg/l of total phosphorus. The disc filters receive effluent from both the moving bed biofilm reactor (M

Thirty-years' experience of prenatal diagnosis of haemophilia in Sweden

Aims: To study the number, outcome and reasons for prenatal diagnosis (PND) and how it has affected the incidence of haemophilia, the number of siblings and the number of potential carriers in the families. Study Group: Women in SWE, compromising over 95% of total, who underwent PND of haemophilia during the years 1970-2010. A total of 46 women were identified who together underwent 79 PND procedu

Experiences of Swedish men and women 6 to 12 weeks after ostomy surgery

PURPOSE: The purpose of this study was to describe patients' experiences, with a focus on body image, 6 to 12 weeks after a stoma operation.METHOD: Nine patients (8 of whom received preoperative teaching) and who were expected to have their colostomy, ileostomy, or urostomy for at least 6 months were interviewed about their feelings, attitudes, and life experiences after undergoing ostomy surgery.

Low serum iron is associated with high serum intact FGF23 in elderly men : The Swedish MrOS study

Background Fibroblast growth factor (FGF23) is a protein that is produced by osteoblasts and osteocytes. Increased serum levels of FGF23 have been associated with increased risks of osteoporotic fractures and cardiovascular disease, particularly in participants with poor renal function. Serum iron (Fe) has been suggested as a regulator of FGF23 homeostasis. Objective To determine whether Fe and ir