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| 2. |
- Rice, Gillian I, et al.
(författare)
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Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
- 2017
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Ingår i: Neuropediatrics. - : Georg Thieme Verlag KG. - 1439-1899 .- 0174-304X. ; 48:3, s. 166-184
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Tidskriftsartikel (refereegranskat)abstract
- We investigated the genetic, phenotypic, and interferon status of 46 patients from 37 families with neurological disease due to mutations in ADAR1. The clinicoradiological phenotype encompassed a spectrum of Aicardi-Goutières syndrome, isolated bilateral striatal necrosis, spastic paraparesis with normal neuroimaging, a progressive spastic dystonic motor disorder, and adult-onset psychological difficulties with intracranial calcification. Homozygous missense mutations were recorded in five families. We observed a p.Pro193Ala variant in the heterozygous state in 22 of 23 families with compound heterozygous mutations. We also ascertained 11 cases from nine families with a p.Gly1007Arg dominant-negative mutation, which occurred de novo in four patients, and was inherited in three families in association with marked phenotypic variability. In 50 of 52 samples from 34 patients, we identified a marked upregulation of type I interferon-stimulated gene transcripts in peripheral blood, with a median interferon score of 16.99 (interquartile range [IQR]: 10.64-25.71) compared with controls (median: 0.93, IQR: 0.57-1.30). Thus, mutations in ADAR1 are associated with a variety of clinically distinct neurological phenotypes presenting from early infancy to adulthood, inherited either as an autosomal recessive or dominant trait. Testing for an interferon signature in blood represents a useful biomarker in this context.
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| 3. |
- Kanis, J A, et al.
(författare)
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The use of clinical risk factors enhances the performance of BMD in the prediction of hip and osteoporotic fractures in men and women.
- 2007
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Ingår i: Osteoporosis international. - : Springer Science and Business Media LLC. - 0937-941X .- 1433-2965. ; 18:8, s. 1033-46
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Tidskriftsartikel (refereegranskat)abstract
- SUMMARY: BMD and clinical risk factors predict hip and other osteoporotic fractures. The combination of clinical risk factors and BMD provide higher specificity and sensitivity than either alone. INTRODUCTION AND HYPOTHESES: To develop a risk assessment tool based on clinical risk factors (CRFs) with and without BMD. METHODS: Nine population-based studies were studied in which BMD and CRFs were documented at baseline. Poisson regression models were developed for hip fracture and other osteoporotic fractures, with and without hip BMD. Fracture risk was expressed as gradient of risk (GR, risk ratio/SD change in risk score). RESULTS: CRFs alone predicted hip fracture with a GR of 2.1/SD at the age of 50 years and decreased with age. The use of BMD alone provided a higher GR (3.7/SD), and was improved further with the combined use of CRFs and BMD (4.2/SD). For other osteoporotic fractures, the GRs were lower than for hip fracture. The GR with CRFs alone was 1.4/SD at the age of 50 years, similar to that provided by BMD (GR = 1.4/SD) and was not markedly increased by the combination (GR = 1.4/SD). The performance characteristics of clinical risk factors with and without BMD were validated in eleven independent population-based cohorts. CONCLUSIONS: The models developed provide the basis for the integrated use of validated clinical risk factors in men and women to aid in fracture risk prediction.
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| 4. |
- Johnell, Olof, et al.
(författare)
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Fracture risk following an osteoporotic fracture.
- 2003
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Ingår i: Osteoporosis International. - : Springer Science and Business Media LLC. - 1433-2965 .- 0937-941X. ; 15:3, s. 46-46
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Tidskriftsartikel (refereegranskat)
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| 5. |
- Johnell, Olof, et al.
(författare)
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Mortality after osteoporotic fractures.
- 2004
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Ingår i: Osteoporosis International. - : Springer Science and Business Media LLC. - 1433-2965 .- 0937-941X. ; 15:1, s. 38-42
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Tidskriftsartikel (refereegranskat)
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| 9. |
- Johnell, Olof, et al.
(författare)
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The burden of hospitalised fractures in Sweden.
- 2005
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Ingår i: Osteoporosis international. - : Springer Science and Business Media LLC. - 0937-941X .- 1433-2965. ; 16:2, s. 222-8
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Tidskriftsartikel (refereegranskat)abstract
- The aim of this study was to characterise the hospital burden of fractures in the Swedish population by age and gender. The number of patients and number of fractures were documented according to site of fracture, age, sex and duration of hospital stay for the whole population of Sweden in 1996. Fractures were additionally classified as osteoporotic according to fracture site. In 1996 there were 54,000 admissions for fracture in men and women aged 50 years or more, accounting for 600,000 hospital-bed days. Hip fractures accounted for 63% of admissions for fracture in men and 72% in women, for 69% and 73% of hospital-bed days, respectively. Fractures considered to be osteoporotic accounted for 84% of all hospital-bed days due to fracture in men, and 93% in women. More hospital-bed days were due to osteoporotic fracture than to breast cancer and prostate cancer combined. The number of hospital-bed days due to osteoporotic fracture was between the amount due to ischaemic heart disease and the amount due to stroke.
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| 10. |
- Jönsson, Bengt, et al.
(författare)
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Cost-effectiveness of preventing hip fracture in the general female population
- 2001
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Ingår i: Osteoporosis international. - : Springer. - 1433-2965 .- 0937-941X. ; 12:5, s. 356-361
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Tidskriftsartikel (refereegranskat)abstract
- The aims of this study were to determine whether treatments that reduce the incidence of hip fracture might be used in the general female population rather than screening or case-finding strategies. Cost-effectiveness, measured as cost per quality-adjusted life-year (QALY) gained using threshold values for cost-effectiveness of $20.000 or $30.000/QALY gained, was assessed during and after treatment using a computer simulation model applied to the female population of Sweden. The base case assumed a 5-year intervention that reduced the risk of hip fracture by 35% during the treatment period, and an effect that reversed to the pretreatment risk during the next 5 years. Sensitivity analyses included the effects of age, different treatment costs and effectiveness. Cost-effectiveness was critically dependent upon the age and costs of intervention. Reasonable cost-effectiveness was shown even with relatively high intervention costs for women at average risk at the age of 84 years or more. For the cheapest interventions ($63/year) cost-effectiveness could be found from the age of 53 years. Variations in effectiveness (15–50% risk reduction) had marked effects on the age that treatment was worthwhile. We conclude that segments of the apparently healthy population could be advantaged by treatment if efficacy were supported by randomized controlled studies.
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