| 51. |
- Heckman, Michael G., et al.
(author)
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Population-specific Frequencies for LRRK2 Susceptibility Variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium
- 2013
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In: Movement Disorders. - : Wiley. - 0885-3185. ; 28:12, s. 1740-1744
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Journal article (peer-reviewed)abstract
- BackgroundVariants within the leucine-rich repeat kinase 2 gene are recognized as the most frequent genetic cause of Parkinson's disease. Leucine-rich repeat kinase 2 variation related to disease susceptibility displays many features that reflect the nature of complex, late-onset sporadic disorders like Parkinson's disease. MethodsThe Genetic Epidemiology of Parkinson's Disease Consortium recently performed the largest genetic association study for variants in the leucine-rich repeat kinase 2 gene across 23 different sites in 15 countries. ResultsHerein, we detail the allele frequencies for the novel risk factors (p.A419V and p.M1646T) and the protective haplotype (p.N551K-R1398H-K1423K) nominated in the original publication. Simple population allele frequencies not only can provide insight into the clinical relevance of specific variants but also can help genetically define patient groups. ConclusionsEstablishing individual patient-based genomic susceptibility profiles that incorporate both risk factors and protective factors will determine future diagnostic and treatment strategies. (c) 2013 International Parkinson and Movement Disorder Society
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| 52. |
- Hwang, J.W., et al.
(author)
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Effect of COD/SO42- ratio and Fe(II) under the variable hydraulic retention time (HRT) on fermentative hydrogen production
- 2009
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In: Water Research. - : Elsevier BV. - 0043-1354 .- 1879-2448. ; 43, s. 3525-3533
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Journal article (peer-reviewed)abstract
- The effect of chemical oxygen demand/sulfate (COD/SO42−) ratio on fermentative hydrogen production using enriched mixed microflora has been studied. The chemostat system maintained with a substrate (glucose) concentration of 15 g COD L−1 exhibited stable H2 production at inlet sulfate concentrations of 0–20 g L−1 during 282 days. The tested COD/SO42− ratios ranged from 150 to 0.75 (with control) at pH 5.5 with hydraulic retention time (HRT) of 24, 12 and 6 h. The hydrogen production at HRT 6 h and pH 5.5 was not influenced by decreasing the COD/SO42− ratio from 150 to 15 (with control) followed by noticeable increase at COD/SO42− ratios of 5 and 3, but it was slightly decreased when the COD/SO42− ratio further decreased to 1.5 and 0.75. These results indicate that high sulfate concentrations (up to 20,000 mg L−1) would not interfere with hydrogen production under the investigated experimental conditions. Maximum hydrogen production was 2.95, 4.60 and 9.40 L day−1 with hydrogen yields of 2.0, 1.8 and 1.6 mol H2 mol−1 glucose at HRTs of 24, 12 and 6 h, respectively. The volatile fatty acid (VFA) fraction produced during the reaction was in the order of butyrate > acetate > ethanol > propionate in all experiments. Fluorescence In Situ Hybridization (FISH) analysis indicated the presence of Clostridium spp., Clostridium butyricum, Clostridium perfringens andRuminococcus flavefaciens as hydrogen producing bacteria (HPB) and absence of sulfate reducing bacteria (SRB) in our study.
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| 53. |
- Peltonen, L.-M., et al.
(author)
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Current trends in nursing informatics : Results of an international survey
- 2016
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In: Studies in Health Technology and Informatics. - : IOS Press. - 9781614996576 ; , s. 938-939
-
Conference paper (peer-reviewed)abstract
- Nursing informatics (NI) can help provide effective and safe healthcare. This study aimed to describe current research trends in NI. In the summer 2015, the IMIA-NI Students Working Group created and distributed an online international survey of the current NI trends. A total of 402 responses were submitted from 44 countries. We identified a top five NI research areas: standardized terminologies, mobile health, clinical decision support, patient safety and big data research. NI research funding was considered to be difficult to acquire by the respondents. Overall, current NI research on education, clinical practice, administration and theory is still scarce, with theory being the least common. Further research is needed to explain the impact of these trends and the needs from clinical practice. © 2016 IMIA and IOS Press.
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| 54. |
- Peltonen, L.-M., et al.
(author)
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Nursing informatics research priorities for the future : Recommendations from an international survey
- 2016
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In: NURSING INFORMATICS 2016: EHEALTH FOR ALL. - : IOS Press. - 9781614996583 ; , s. 222-226
-
Conference paper (peer-reviewed)abstract
- We present one part of the results of an international survey exploring current and future nursing informatics (NI) research trends. The study was conducted by the International Medical Informatics Association Nursing Informatics Special Interest Group (IMIA-NISIG) Student Working Group. Based on findings from this cross-sectional study, we identified future NI research priorities. We used snowball sampling technique to reach respondents from academia and practice. Data were collected between August and September 2015. Altogether, 373 responses from 44 countries were analyzed. The identified top ten NI trends were big data science, standardized terminologies (clinical evaluation/implementation), education and competencies, clinical decision support, mobile health, usability, patient safety, data exchange and interoperability, patient engagement, and clinical quality measures. Acknowledging these research priorities can enhance successful future development of NI to better support clinicians and promote health internationally. © 2016 IMIA and IOS Press.
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| 55. |
- Ross, Owen A., et al.
(author)
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Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study
- 2011
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In: Lancet Neurology. - 1474-4465. ; 10:10, s. 898-908
-
Journal article (peer-reviewed)abstract
- Background The leucine-rich repeat kinase 2 gene (LRRK2) harbours highly penetrant mutations that are linked to familial parkinsonism. However, the extent of its polymorphic variability in relation to risk of Parkinson's disease (PD) has not been assessed systematically. We therefore assessed the frequency of LRRK2 exonic variants in individuals with and without PD, to investigate the role of the variants in PD susceptibility. Methods LRRK2 was genotyped in patients with PD and controls from three series (white, Asian, and Arab-Berber) from sites participating in the Genetic Epidemiology of Parkinson's Disease Consortium. Genotyping was done for exonic variants of LRRK2 that were identified through searches of literature and the personal communications of consortium members. Associations with PD were assessed by use of logistic regression models. For variants that had a minor allele frequency of 0.5% or greater, single variant associations were assessed, whereas for rarer variants information was collapsed across variants. Findings 121 exonic LRRK2 variants were assessed in 15 540 individuals: 6995 white patients with PD and 5595 controls, 1376 Asian patients and 962 controls, and 240 Arab-Berber patients and 372 controls. After exclusion of carriers of known pathogenic mutations, new independent risk associations were identified for polymorphic variants in white individuals (M1646T, odds ratio 1.43, 95% CI 1.15-1.78; p=0.0012) and Asian individuals (A419V, 2.27, 1.35-3.83; p=0.0011). A protective haplotype (N551K-R1398H-K1423K) was noted at a frequency greater than 5% in the white and Asian series, with a similar finding in the Arab-Berber series (combined odds ratio 0.82, 0.72-0.94; p=0.0043). Of the two previously reported Asian risk variants, G2385R was associated with disease (1.73, 1.20-2.49; p=0.0026), but no association was noted for R1628P (0.62, 0.36-1.07; p=0.087). In the Arab-Berber series, Y2189C showed potential evidence of risk association with PD (4.48, 133-15.09; p=0.012). Interpretation The results for LRRK2 show that several rare and common genetic variants in the same gene can have independent effects on disease risk. LRRK2, and the pathway in which it functions, is important in the cause and pathogenesis of PD in a greater proportion of patients with this disease than previously believed. These results will help discriminate those patients who will benefit most from therapies targeted at LRRK2 pathogenic activity. Funding Michael J Fox Foundation and National Institutes of Health.
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| 56. |
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| 57. |
- Su, Yu-Ru, et al.
(author)
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Validation of a genetic-enhanced risk prediction model for colorectal cancer in a large community-based cohort
- 2023
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In: Cancer Epidemiology, Biomarkers and Prevention. - : American association for cancer research. - 1055-9965 .- 1538-7755. ; 32:3, s. 353-362
-
Journal article (peer-reviewed)abstract
- BACKGROUND: Polygenic risk scores (PRS) which summarize individuals' genetic risk profile may enhance targeted colorectal cancer screening. A critical step towards clinical implementation is rigorous external validations in large community-based cohorts. This study externally validated a PRS-enhanced colorectal cancer risk model comprising 140 known colorectal cancer loci to provide a comprehensive assessment on prediction performance.METHODS: The model was developed using 20,338 individuals and externally validated in a community-based cohort (n = 85,221). We validated predicted 5-year absolute colorectal cancer risk, including calibration using expected-to-observed case ratios (E/O) and calibration plots, and discriminatory accuracy using time-dependent AUC. The PRS-related improvement in AUC, sensitivity and specificity were assessed in individuals of age 45 to 74 years (screening-eligible age group) and 40 to 49 years with no endoscopy history (younger-age group).RESULTS: In European-ancestral individuals, the predicted 5-year risk calibrated well [E/O = 1.01; 95% confidence interval (CI), 0.91-1.13] and had high discriminatory accuracy (AUC = 0.73; 95% CI, 0.71-0.76). Adding the PRS to a model with age, sex, family and endoscopy history improved the 5-year AUC by 0.06 (P < 0.001) and 0.14 (P = 0.05) in the screening-eligible age and younger-age groups, respectively. Using a risk-threshold of 5-year SEER colorectal cancer incidence rate at age 50 years, adding the PRS had a similar sensitivity but improved the specificity by 11% (P < 0.001) in the screening-eligible age group. In the younger-age group it improved the sensitivity by 27% (P = 0.04) with similar specificity.CONCLUSIONS: The proposed PRS-enhanced model provides a well-calibrated 5-year colorectal cancer risk prediction and improves discriminatory accuracy in the external cohort.IMPACT: The proposed model has potential utility in risk-stratified colorectal cancer prevention.
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| 58. |
- Sung, Ki Won, 1913-, et al.
(author)
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PriMO-5G : Making firefighting smarter with immersive videos through 5G
- 2019
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In: Proceedings of IEEE 5G World Forum, 5GWF 2019. - : IEEE. - 9781728136271 ; , s. 280-285
-
Conference paper (peer-reviewed)abstract
- In this paper, we introduce PriMO-5G which is an EU-Korea collaboration project studying the use of 5G technologies and unmanned aerial vehicles (UAVs) or drones to enhance the safety and efficiency of firefighting operations. We start by describing envisaged use cases of smart firefighting focusing on how the 5G communications with drones can help the firefighting. Inspired by the use cases, we identify several research challenges that call for new solutions in 5G radios and cores for mission-critical services. Then, a discussion of a new framework for defining key performance indicators (KPIs) follows. Finally, we introduce our effort and future plans for the demonstration of the technologies that the PriMO-5G develops.
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| 59. |
- Topaz, M., et al.
(author)
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Advancing nursing informatics in the next decade : Recommendations from an international survey
- 2016
-
In: Studies in Health Technology and Informatics. - : IOS Press. - 9781614996576 ; , s. 123-127
-
Conference paper (peer-reviewed)abstract
- In the summer of 2015, the International Medical Informatics Association Nursing Informatics Special Interest Group (IMIA NISIG) Student Working Group developed and distributed an international survey of current and future trends in nursing informatics. The survey was developed based on current literature on nursing informatics trends and translated into six languages. Respondents were from 31 different countries in Asia, Africa, North and Central America, South America, Europe, and Australia. This paper presents the results of responses to the survey question: "What should be done (at a country or organizational level) to advance nursing informatics in the next 5-10 years?" (n responders=272). Using thematic qualitative analysis, responses were grouped into five key themes: 1) Education and training; 2) Research; 3) Practice; 4) Visibility; and 5) Collaboration and integration. We also provide actionable recommendations for advancing nursing informatics in the next decade. © 2016 IMIA and IOS Press.
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