| 1. |
- Stacey, Simon N, et al.
(författare)
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A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.
- 2011
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 43:11, s. 1098-103
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Tidskriftsartikel (refereegranskat)abstract
- To identify new risk variants for cutaneous basal cell carcinoma, we performed a genome-wide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. We imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from rs78378222[C] (odds ratio (OR) = 2.36, P = 5.2 × 10(-17)), which has a frequency of 0.0192 in the Icelandic population. We then confirmed this association in non-Icelandic samples (OR = 1.75, P = 0.0060; overall OR = 2.16, P = 2.2 × 10(-20)). rs78378222 is in the 3' untranslated region of TP53 and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3'-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (OR = 1.44, P = 2.4 × 10(-6)), glioma (OR = 2.35, P = 1.0 × 10(-5)) and colorectal adenoma (OR = 1.39, P = 1.6 × 10(-4)). However, we observed no effect for breast cancer, a common Li-Fraumeni syndrome tumor (OR = 1.06, P = 0.57, 95% confidence interval 0.88-1.27).
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| 2. |
- Bjornsdottir, Erla, et al.
(författare)
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Symptoms of Insomnia among Patients with Obstructive Sleep Apnea Before and After Two Years of Positive Airway Pressure Treatment
- 2013
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Ingår i: Sleep. - : Oxford University Press (OUP). - 0161-8105 .- 1550-9109. ; 36:12, s. 1901-1909
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Tidskriftsartikel (refereegranskat)abstract
- Study Objectives: To assess the changes of insomnia symptoms among patients with obstructive sleep apnea (OSA) from starting treatment with positive airway pressure (PAP) to a 2-y follow-up. Design: Longitudinal cohort study. Setting: Landspitali-The National University Hospital of Iceland. Participants: There were 705 adults with OSA who were assessed prior to and 2 y after starting PAP treatment. Intervention: PAP treatment for OSA. Measurements and Results: All patients underwent a medical examination along with a type 3 sleep study and answered questionnaires on health and sleep before and 2 y after starting PAP treatment. The change in prevalence of insomnia symptoms by subtype was assessed by questionnaire and compared between individuals who were using or not using PAP at follow-up. Symptoms of middle insomnia were most common at baseline and improved significantly among patients using PAP (from 59.4% to 30.7%, P < 0.001). Symptoms of initial insomnia tended to persist regardless of PAP treatment, and symptoms of late insomnia were more likely to improve among patients not using PAP. Patients with symptoms of initial and late insomnia at baseline were less likely to adhere to PAP (odds ratio [OR] 0.56, P = 0.007, and OR 0.53, P < 0.001, respectively). Conclusion: Positive airway pressure treatment significantly reduced symptoms of middle insomnia. Symptoms of initial and late insomnia, however, tended to persist regardless of positive airway pressure treatment and had a negative effect on adherence. Targeted treatment for insomnia may be beneficial for patients with obstructive sleep apnea comorbid with insomnia and has the potential to positively affect adherence to positive airway pressure.
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| 3. |
- Björnsdóttir, Erla, et al.
(författare)
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Insomnia in untreated sleep apnea patients compared to controls
- 2012
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Ingår i: Journal of Sleep Research. - : Wiley. - 0962-1105 .- 1365-2869. ; 21:2, s. 131-138
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Tidskriftsartikel (refereegranskat)abstract
- Insomnia and obstructive sleep apnea (OSA) often coexist, but the nature of their relationship is unclear. The aims of this study were to compare the prevalence of initial and middle insomnia between OSA patients and controls from the general population as well as to study the influence of insomnia on sleepiness and quality of life in OSA patients. Two groups were compared, untreated OSA patients (n = 824) and controls ≥ 40 years from the general population in Iceland (n = 762). All subjects answered the same questionnaires on health and sleep and OSA patients underwent a sleep study. Altogether, 53% of controls were males compared to 81% of OSA patients. Difficulties maintaining sleep (DMS) were more common among men and women with OSA compared to the general population (52 versus 31% and 62 versus 31%, respectively, P < 0.0001). Difficulties initiating sleep (DIS) and DIS + DMS were more common among women with OSA compared to women without OSA. OSA patients with DMS were sleepier than patients without DMS (Epworth Sleepiness Scale: 12.2 versus 10.9, P < 0.001), while both DMS and DIS were related to lower quality of life in OSA patients as measured by the Short Form 12 (physical score 39 versus 42 and mental score 36 versus 41, P < 0.001). DIS and DMS were not related to OSA severity. Insomnia is common among OSA patients and has a negative influence on quality of life and sleepiness in this patient group. It is relevant to screen for insomnia among OSA patients and treat both conditions when they co-occur.
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| 4. |
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| 5. |
- Pfeffer, W. Tad, et al.
(författare)
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The Randolph Glacier Inventory : a globally complete inventory of glaciers
- 2014
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Ingår i: Journal of Glaciology. - 0022-1430 .- 1727-5652. ; 60:221, s. 537-552
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Tidskriftsartikel (refereegranskat)abstract
- The Randolph Glacier Inventory (RGI) is a globally complete collection of digital outlines of glaciers, excluding the ice sheets, developed to meet the needs of the Fifth Assessment of the Intergovernmental Panel on Climate Change for estimates of past and future mass balance. The RGI was created with limited resources in a short period. Priority was given to completeness of coverage, but a limited, uniform set of attributes is attached to each of the similar to 198 000 glaciers in its latest version, 3.2. Satellite imagery from 1999-2010 provided most of the outlines. Their total extent is estimated as 726 800 +/- 34 000 km(2). The uncertainty, about +/- 5%, is derived from careful single-glacier and basin-scale uncertainty estimates and comparisons with inventories that were not sources for the RGI. The main contributors to uncertainty are probably misinterpretation of seasonal snow cover and debris cover. These errors appear not to be normally distributed, and quantifying them reliably is an unsolved problem. Combined with digital elevation models, the RGI glacier outlines yield hypsometries that can be combined with atmospheric data or model outputs for analysis of the impacts of climatic change on glaciers. The RGI has already proved its value in the generation of significantly improved aggregate estimates of glacier mass changes and total volume, and thus actual and potential contributions to sea-level rise.
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| 6. |
- Sigurðsson, Jón Viðar, et al.
(författare)
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Introduction
- 2013
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Ingår i: Friendship and Social Networks in Scandinavia c. 1000-1800. - : Brepols. - 9782503542485 - 9782503542607 ; , s. 1-14
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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| 7. |
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| 8. |
- Stigson, Lennart, et al.
(författare)
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Bone and fat mass in relation to postnatal levels of insulin-like growth factors in prematurely born children at 4y of age
- 2014
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Ingår i: Pediatric Research. - : Nature Publishing Group: Open Access Hybrid Model Option A. - 0031-3998 .- 1530-0447. ; 75:4, s. 544-550
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Children born prematurely may be at risk of developing osteopenia. This study investigated whether insulin-like growth factors (IGFs) in the early postnatal period influence bone mass and body composition in prematurely born children. METHODS: A total of 74 control (gestational age greater than36 wk; n = 37) and preterm (gestational age less than32 wk; n = 37) infants were investigated (mean age +/- SD: 4.59 +/- 0.31 y). Bone mineral density, body composition, and markers of bone and mineral metabolism were investigated in relation to postnatal IGF levels. RESULTS: After adjusting for confounders, we found no differences in bone mass, but significantly less lean mass, increased fat mass, and increased osteocalcin levels in ex-preterm infants. Forward stepwise multiple analysis revealed that higher late postnatal IGF-II levels predict lumbar spine bone mineral content (P less than 0.05) and lean mass (P less than 0.05). When the birth weight standard deviation score was included in the analysis, higher early postnatal IGF-I levels predicted both lumbar spine bone mineral density and bone mineral content (P less than 0.05). Higher early postnatal IGF binding protein-3 (P less than 0.01) predicted increased fat mass at 4-y follow-up. CONCLUSION: Ex-preterm children have normal bone mass but different body composition compared with full-term controls. Higher early IGF-I and late postnatal IGF-II concentrations are positive predictors of lumbar spine bone mass.
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