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- Karppinen, S. -M., et al.
(author)
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Nordic collaborative study of the BARD1 Cys557Ser allele in 3956 patients with cancer: enrichment in familial BRCA1/BRCA2 mutation-negative breast cancer but not in other malignancies
- 2006
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In: Journal of Medical Genetics. - : BMJ. - 0022-2593 .- 1468-6244. ; 43:11, s. 856-862
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Journal article (peer-reviewed)abstract
- Background: BARD1 was originally identified as a BRCA1- interacting protein but has also been described in tumour-suppressive functions independent of BRCA1. Several studies have indicated that the BARD1 gene is a potential target for germline changes predisposing to breast and ovarian cancer. The C- terminal Cys557Ser change has previously been uncovered to associate with an increased risk of breast cancer and was recently shown to result in defective apoptotic activities. Aim and methods: Conformation- sensitive gel electrophoresis, minisequencing, TaqMan assays, denaturing high- performance liquid chromatography analysis and DNA sequencing were used to investigate the prevalence of the Cys557Ser allele in a large Nordic case - control study cohort consisting of 2906 patients with breast or ovarian cancer, 734 with prostate cancer, 188 with colorectal cancer, 128 men with breast cancer, and 3591 controls from Finland, Iceland, Denmark, Sweden and Norway. Results: The frequency of the BARD1 Cys557Ser variant seemed to increase among patients from families with breast or ovarian cancer lacking BRCA1 or BRCA2 mutations: a significant difference was obtained compared with controls ( 6.8% v 2.7%; p < 0.001; odds ratio ( OR) 2.6; 95% confidence interval (CI) 1.7 to 4.0) and with patients from BRCA1/ BRCA2 mutation- positive families ( 6.8% v 2.2%; p = 0.01; OR 3.2; 95% CI 1.2 to 8.3). In contrast, no major association with male breast, ovarian, colorectal or prostate cancer was observed. Additionally, a novel BARD1 allele resulting in Ser558Pro was identified in familial breast cancer cases. Conclusion: These results provide further evidence that BARD1 Cys557Ser confers a slightly increased risk of breast cancer in women.
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| 4. |
- Fall, Andreas, et al.
(author)
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The effect of ionic strength and pH on the dewatering rate of cellulose nanofibril dispersions
- 2022
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In: Cellulose. - : Springer Science and Business Media B.V.. - 0969-0239 .- 1572-882X. ; 29:14, s. 7649-7662
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Journal article (peer-reviewed)abstract
- Cellulose nanofibrils, CNFs, show great potential in many application areas. One main aspect limiting the industrial use is the slow and energy demanding dewatering of CNF suspensions. Here we investigate the dewatering with a piston press process. Three different CNF grades were dewatered to solid contents between approx. 20 and 30%. The CNF grades varied in charge density (30, 106 and 604 µmol/g) and fibrillation degree. The chemical conditions were varied by changing salt concentration (NaCl) and pH and the dewatering rates were compared before and after these changes. For the original suspensions, a higher charge provides slower dewatering with the substantially slowest dewatering for the highest charged CNFs. However, by changing the conditions it dewatered as fast as the two lower charged CNFs, even though the salt/acid additions also improved the dewatering rate for these two CNFs. Finally, by tuning the conditions, fast dewatering could be obtained with only minor effect on film properties (strength and oxygen barrier) produced from redispersed dispersion. However, dewatering gives some reduction in viscosity of the redispersed dispersions. This may be a disadvantage if the CNF application is as e.g. rheology modifier or emulsion stabilizer. Graphical abstract: [Figure not available: see fulltext.].
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| 5. |
- Gronbaek, J. Kjaer, et al.
(author)
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Postoperative speech impairment and cranial nerve deficits after secondary surgery of posterior fossa tumours in childhood : a prospective European multicentre study
- 2022
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In: Child's Nervous System. - : Springer Nature. - 0256-7040 .- 1433-0350. ; 38:4, s. 747-758
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Journal article (peer-reviewed)abstract
- Purpose Brain tumours constitute 25% of childhood neoplasms, and half of them are in the posterior fossa. Surgery is a fundamental component of therapy, because gross total resection is associated with a higher progression-free survival. Patients with residual tumour, progression of residual tumour or disease recurrence commonly require secondary surgery. We prospectively investigated the risk of postoperative speech impairment (POSI) and cranial nerve dysfunction (CND) following primary and secondary resection for posterior cranial fossa tumours. Methods In the Nordic-European study of the cerebellar mutism syndrome, we prospectively included children undergoing posterior fossa tumour resection or open biopsy in one of the 26 participating European centres. Neurological status was assessed preoperatively, and surgical details were noted post-operatively. Patients were followed up 2 weeks, 2 months and 1 year postoperatively. Here, we analyse the risk of postoperative speech impairment (POSI), defined as either mutism or reduced speech, and cranial nerve dysfunction (CND) following secondary, as compared to primary, surgery. Results We analysed 426 children undergoing primary and 78 undergoing secondary surgery between 2014 and 2020. The incidence of POSI was significantly lower after secondary (12%) compared with primary (28%, p = 0.0084) surgery. In a multivariate analysis adjusting for tumour histology, the odds ratio for developing POSI after secondary surgery was 0.23, compared with primary surgery (95% confidence interval: 0.08-0.65, p = 0.006). The frequency of postoperative CND did not differ significantly after primary vs. secondary surgery (p = 0.21). Conclusion Children have a lower risk of POSI after secondary than after primary surgery for posterior fossa tumours but remain at significant risk of both POSI and CND. The present findings should be taken in account when weighing risks and benefits of secondary surgery for posterior fossa tumours.
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| 6. |
- Hallberg, S., et al.
(author)
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Burden of disease and management of osteoarthritis and chronic low back pain: healthcare utilization and sick leave in Sweden, Norway, Finland and Denmark (BISCUITS): study design and patient characteristics of a real world data study
- 2022
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In: Scandinavian Journal of Pain. - : Walter de Gruyter GmbH. - 1877-8860 .- 1877-8879. ; 23:1, s. 126-138
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Journal article (peer-reviewed)abstract
- Objectives: Osteoarthritis (OA) and chronic low back pain (CLBP) are common musculoskeletal disorders with substantial patient and societal burden. Nordic administrative registers offer a unique opportunity to study the impact of these conditions in the real-world setting. The Burden of Disease and Management of Osteoarthritis and Chronic Low Back Pain: Health Care Utilization and Sick Leave in Sweden, Norway, Finland and Denmark (BISCUITS) study was designed to study disease prevalence and the societal and economic burden in broad OA and CLBP populations. Methods: Patients in Sweden, Norway, Finland and Denmark with diagnoses of OA or CLBP (low back pain record plus >= 2 pain relief prescriptions to indicate chronicity) were identified in specialty care, in primary care (Sweden and Finland) and in a quality-of-care register (Sweden). Matched controls were identified for the specialty care cohort. Longitudinal data were extracted on prevalence, treatment patterns, patient-reported outcomes, social and economic burden. Results: Almost 1.4 million patients with OA and 0.4 million with CLBP were identified in specialty care, corresponding to a prevalence in the Nordic countries of 6.3 and 1.9%, respectively. The prevalence increased to 11-14% for OA and almost 6% for CLBP when adding patients identified in primary care. OA patients had a higher Elixhauser comorbidity index (0.66 vs. 0.46) and were using opioids (44.7 vs. 10.2%) or long-term nonsteroidal anti-inflammatory drug (NSAIDs) (20.9 vs. 4.5%) more than four times as often as compared to controls. The differences were even larger for CLBP patients compared to their controls (comorbidity index 0.89 vs. 0.39, opioid use 77.7 vs. 9.4%, and long-term NSAID use 37.2 vs. 4.8%). Conclusions: The BISCUITS study offers an unprecedented, longitudinal healthcare data source to quantify the real-world burden of more than 1.8 million patients with OA or CLBP across four countries. In subsequent papers we aim to explore among others additional outcomes and subgroups of patients, primarily those patients who may benefit most from better healthcare management.
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| 7. |
- Hallberg, S., et al.
(author)
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Economic burden of osteoarthritis - multi-country estimates of direct and indirect costs from the BISCUITS study
- 2023
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In: SCANDINAVIAN JOURNAL OF PAIN. - 1877-8860. ; 23:4, s. 694-704
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Journal article (peer-reviewed)abstract
- Data from 'BISCUITS', a large Nordic cohort study linking several registries, were used to estimate differences in average direct and indirect costs between patients with osteoarthritis and controls (matched 1:1 based on birth year and sex) from the general population in Sweden, Norway, Finland and Denmark for 2017. Patients >= 18 years with >= 1 diagnosis of osteoarthritis (ICD-10: M15-M19) recorded in specialty or primary care (the latter available for a subset of patients in Sweden and for all patients in Finland) during 2011-2017 were included. Patients with a cancer diagnosis (ICD-10: C00-C43/C45-C97) were excluded. Productivity loss (sick leave and disability pension) and associated indirect costs were estimated among working-age adults (18-66 years). In 2017, average annual incremental direct costs among adults with osteoarthritis (n=1,157,236) in specialty care relative to controls ranged between _1,259 and _1,693 (p<0.001) per patient across all countries. Total average annual incremental costs were (sic)3,224-(sic)4,969 (p<0.001) per patient. Healthcare cost differences were mainly explained by osteoarthritis patients having more surgeries. However, among patients with both primary and secondary care data, primary care costs exceeded the costs of surgery. Primary care constituted 41 and 29 % of the difference in direct costs in Sweden and Finland, respectively. From a societal perspective, the total economic burden of osteoarthritis is substantial, and the incremental cost was estimated to (sic)1.1-(sic)1.3 billion yearly for patients in specialty care across the Nordic countries. When including patients in primary care, incremental costs rose to (sic)3 billion in Sweden and _1.8 billion in Finland. Given the large economic impact, finding cost-effective and safe therapeutic strategies for these patients will be important.
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| 9. |
- Pohjola, M. A., et al.
(author)
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Evaluation and modelling of the size fractionated aerosol particle number concentration measurements nearby a major road in Helsinki - Part I : Modelling results within the LIPIKA project
- 2007
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In: Atmospheric Chemistry And Physics. - : Copernicus GmbH. - 1680-7316 .- 1680-7324. ; 7:15, s. 4065-4080
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Journal article (peer-reviewed)abstract
- A field measurement campaign was conducted near a major road ""Itavayla in an urban area in Helsinki in 17-20 February 2003. Aerosol measurements were conducted using a mobile laboratory ""Sniffer"" at various distances from the road, and at an urban background location. Measurements included particle size distribution in the size range of 7 nm-10 mu m (aerodynamic diameter) by the Electrical Low Pressure Impactor (ELPI) and in the size range of 3-50 nm ( mobility diameter) by Scanning Mobility Particle Sizer (SMPS), total number concentration of particles larger than 3 nm detected by an ultrafine condensation particle counter (UCPC), temperature, relative humidity, wind speed and direction, driving route of the mobile laboratory, and traffic density on the studied road. In this study, we have compared measured concentration data with the predictions of the road network dispersion model CAR-FMI used in combination with an aerosol process model MONO32. For model comparison purposes, one of the cases was additionally computed using the aerosol process model UHMA, combined with the CAR-FMI model. The vehicular exhaust emissions, and atmospheric dispersion and transformation of fine and ultrafine particles was evaluated within the distance scale of 200m (corresponding to a time scale of a couple of minutes). We computed the temporal evolution of the number concentrations, size distributions and chemical compositions of various particle size classes. The atmospheric dilution rate of particles is obtained from the roadside dispersion model CAR-FMI. Considering the evolution of total number concentration, dilution was shown to be the most important process. The influence of coagulation and condensation on the number concentrations of particle size modes was found to be negligible on this distance scale. Condensation was found to affect the evolution of particle diameter in the two smallest particle modes. The assumed value of the concentration of condensable organic vapour of 10(12) molecules cm(-3) was shown to be in a disagreement with the measured particle size evolution, while the modelling runs with the concentration of condensable organic vapour of 10(9)-10(10) molecules cm(-3) resulted in particle sizes that were closest to the measured values.
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| 10. |
- Sallinen, Riitta J., et al.
(author)
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Genetic Risk Score for Serum 25-Hydroxyvitamin D Concentration Helps to Guide Personalized Vitamin D Supplementation in Healthy Finnish Adults
- 2021
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In: Journal of Nutrition. - : Elsevier BV. - 0022-3166 .- 1541-6100. ; 151:2, s. 281-292
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Journal article (peer-reviewed)abstract
- Background: Genetic factors modify serum 25-hydroxyvitamin D [25(OH)D] concentration and can affect the optimal intake of vitamin D.Objectives: We aimed to personalize vitamin D supplementation by applying knowledge of genetic factors affecting serum 25(OH)D concentration.Methods: We performed a genome-wide association study of serum 25(OH)D concentration in the Finnish Health 2011 cohort (n = 3339) using linear regression and applied the results to develop a population-matched genetic risk score (GRS) for serum 25(OH)D. This GRS was used to tailor vitamin D supplementation for 96 participants of a longitudinal Digital Health Revolution (DHR) Study. The GRS, serum 25(OH)D concentrations, and personalized supplementation and dietary advice were electronically returned to participants. Serum 25(OH)D concentrations were assessed using immunoassays and vitamin D intake using FFQs. In data analyses, cross-sectional and repeated-measures statistical tests and models were applied as described in detail elsewhere.Results: GC vitamin D-binding protein and cytochrome P450 family 2 subfamily R polypeptide 1 genes showed genome-wide significant associations with serum 25(OH)D concentration. One single nucleotide polymorphism from each locus (rs4588 and rs10741657) was used to develop the GRS. After returning data to the DHR Study participants, daily vitamin D supplement users increased from 32.6% to 60.2% (P = 6.5 x 10(-6)) and serum 25(OH)D concentration from 64.4 +/- 20.9 nmol/L to 68.5 +/- 19.2 nmol/L (P = 0.006) between August and November. Notably, the difference in serum 25(OH)D concentrations between participants with no risk alleles and those with 3 or 4 risk alleles decreased from 20.7 nmol/L to 8.0 nmol/L (P = 0.0063).Conclusions: We developed and applied a population-matched GRS to identify individuals genetically predisposed to low serum 25(OH)D concentration. We show how the electronic return of individual genetic risk, serum 25(OH)D concentrations, and factors affecting vitamin D status can be used to tailor vitamin D supplementation. This model could be applied to other populations and countries.
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