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- Blomquist, H K, et al.
(author)
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Glycerol kinase deficiency in two brothers with and without clinical manifestations.
- 1996
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In: Clinical genetics. - 0009-9163 .- 1399-0004. ; 50:5, s. 375-9
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Journal article (peer-reviewed)abstract
- We report two brothers with glycerol kinase deficiency (GKD). The older brother had serious clinical symptoms, mental and growth retardation, abnormal skeleton, spontaneous fractures and premature loss of abnormal teeth. He and his mother had low serum phosphate levels. He had elevated serum and urine glycerol levels and GKD was found in cultured fibroblasts. Prenatal diagnosis was performed in the second pregnancy. Glycerol kinase activity was considered normal in a chorionic villus sample of the foetus. After birth, it was found that the boy had elevated serum and urine glycerol levels. Enzymatic analysis in cultured fibroblasts revealed that this boy also had GKD, in spite of having no expression of the disease. Chromosomal analyses in the parents and both boys were normal. Major rearrangements or deletions were not detected in molecular studies of DNA from the two brothers. The hybridisation pattern was normal and no allelic loss was observed.
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| 2. |
- Granlund, David, 1979-
(author)
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Economic policy in health care : Sickness absence and pharmaceutical costs
- 2007
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Doctoral thesis (other academic/artistic)abstract
- This thesis consists of a summary and four papers. The first two concerns health care and sickness absence, and the last two pharmaceutical costs and prices. Paper [I] presents an economic federation model which resembles the situation in, for example, Sweden. In the model the state governments provide health care, the fed-eral government provides a sickness benefit and both levels tax labor income. The re-sults show that the states can have either an incentive to under- or over-provide health care. The federal government can, by introducing an intergovernmental transfer, in-duce the state governments to provide the socially optimal amount of health care. In Paper [II] the effect of aggregated public health care expenditure on absence from work due to sickness or disability was estimated. The analysis was based on data from a panel of the Swedish municipalities for the period 1993-2004. Public health care expenditure was found to have no statistically significant effect on absence and the standard errors were small enough to rule out all but a minimal effect. The result held when separate estimations were conducted for women and men, and for absence due to sickness and disability. The purpose of Paper [III] was to study the effects of the introduction of fixed pharmaceutical budgets for two health centers in Västerbotten, Sweden. Estimation results using propensity score matching methods show that there are no systematic differences for either price or quantity per prescription between health centers using fixed and open-ended budgets. The analysis was based on individual prescription data from the two health centers and a control group both before and after the introduction of fixed budgets. In Paper [IV] the introduction of the Swedish substitution reform in October 2002 was used as a natural experiment to examine the effects of increased consumer infor-mation on pharmaceutical prices. Using monthly data on individual pharmaceutical prices, the average reduction of prices due to the reform was estimated to four percent for both brand name and generic pharmaceuticals during the first four years after the reform. The results also show that the price adjustment was not instant.
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| 4. |
- Lewis, Jeffrey, et al.
(author)
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PFAS – A threat for groundwater and drinking water supply in Sweden?
- 2015
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In: EGU General Assembly 2015. ; 17
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Conference paper (other academic/artistic)abstract
- Perfluoroalkyl substances (PFAS) are a group of anthropogenic environmental pollutants that are widely distributed in the global environment. They have multiple industrial uses, including water repellents in clothing, paper coatings and firefighting foam. According to a study released by the Environmental Directorate of the OECD, they are persistent, bioaccumulative and toxic to mammalian species (OECD, 2002). In some municipal drinking water wells in Sweden, measured concentrations of PFAS found to be several hundred times higher than the allowed threshold values. This has created a huge public concern and has recently attracted much media attention in Sweden (e.g. Afzelius et al., 2014; Bergman et al., 2014; Lewis et al., 2014). PFAS findings raised questions such as “What can we do to solve the problem?” When it comes to drinking water, there are a number of techniques that can ensure that PFAS levels are reduced to acceptable levels. This may be a costly challenge, but from a technical point of view it is possible. To ensure the safety of drinking water from a public health perspective is obviously a top priority. However, international experience shows that the cost of cleaning up PFAS in groundwater may be significantly higher than continuously treat drinking water in water works. Approximately fifty percent of Sweden’s drinking water comes from groundwater. As a result, there are several ongoing and planned PFAS-related environmental and drinking-water investigations in Sweden. Many aquifers that supply municipal water plants are located in areas of sand and gravel deposits. Such soils have relatively high permeabilities, which permits extraction of large volumes of water. However, the downside to high permeabilities is that they also allow dissolved contaminants as PFAS to spread over large areas. If one disregards the health risks linked to its presence in drinking water, PFAS have an impact on three of Sweden’s national environmental quality objectives, namely, A Non-Toxic Environment, Flourishing Lakes and Streams and Good-Quality Groundwater. Although the survey of PFAS in our groundwater supplies will take time, it is feasible. Much research in the field of hydrogeology and geochemistry remains before a viable and cost-effective groundwater remediation method can be operational. Until then, it is essential that measures are taken to identify the present distribution and magnitude of PFAS in groundwater and prevents its further spread in our most important aquifers. Afzelius, H. et al., 2014. Vågar vi dricka kranvattnet? (Do we dare drinking tap water?), Svenska Dagbladet. Bergman, Å., Hansson, S.O., Hellsten, E., 2014. En miljöskandal av historiska mått (An environmental scandal of historic proportions), Svenska Dagbladet. Lewis, J. et al., 2014. Kartlägg det förorenade dricksvattnet (Survey the contaminated drinking water), Svenska Dagbladet. OECD, 2002. Hazard Assessment of Perfluorooctane Sulfonate (PFOS) and its Salt.
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