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- Aad, G., et al.
(författare)
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- 2013
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Ingår i: The European Physical Journal C. - : Springer Science and Business Media LLC. - 1434-6052. ; 73:3
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Tidskriftsartikel (refereegranskat)
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| 5. |
- Franke, Andre, et al.
(författare)
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Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:12, s. 1118-1125
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Tidskriftsartikel (refereegranskat)abstract
- We undertook a meta-analysis of six Crohn's disease genome-wide association studies (GWAS) comprising 6,333 affected individuals (cases) and 15,056 controls and followed up the top association signals in 15,694 cases, 14,026 controls and 414 parent-offspring trios. We identified 30 new susceptibility loci meeting genome-wide significance (P < 5 × 10⁻⁸). A series of in silico analyses highlighted particular genes within these loci and, together with manual curation, implicated functionally interesting candidate genes including SMAD3, ERAP2, IL10, IL2RA, TYK2, FUT2, DNMT3A, DENND1B, BACH2 and TAGAP. Combined with previously confirmed loci, these results identify 71 distinct loci with genome-wide significant evidence for association with Crohn's disease.
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| 6. |
- Kabudula, Chodziwadziwa W., et al.
(författare)
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The promise of record linkage for assessing the uptake of health services in resource constrained settings : a pilot study from South Africa
- 2014
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Ingår i: BMC Medical Research Methodology. - : Springer Science and Business Media LLC. - 1471-2288. ; 14
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Tidskriftsartikel (refereegranskat)abstract
- Background: Health and Demographic Surveillance Systems (HDSS) have been instrumental in advancing population and health research in low-and middle-income countries where vital registration systems are often weak. However, the utility of HDSS would be enhanced if their databases could be linked with those of local health facilities. We assess the feasibility of record linkage in rural South Africa using data from the Agincourt HDSS and a local health facility. Methods: Using a gold standard dataset of 623 record pairs matched by means of fingerprints, we evaluate twenty record linkage scenarios (involving different identifiers, string comparison techniques and with and without clerical review) based on the Fellegi-Sunter probabilistic record linkage model. Matching rates and quality are measured by their sensitivity and positive predictive value (PPV). Background characteristics of matched and unmatched cases are compared to assess systematic bias in the resulting record-linked dataset. Results: A hybrid approach of deterministic followed by probabilistic record linkage, and scenarios that use an extended set of identifiers including another household member's first name yield the best results. The best fully automated record linkage scenario has a sensitivity of 83.6% and PPV of 95.1%. The sensitivity and PPV increase to 84.3% and 96.9%, respectively, when clerical review is undertaken on 10% of the record pairs. The likelihood of being linked is significantly lower for females, non-South Africans and the elderly. Conclusion: Using records matched by means of fingerprints as the gold standard, we have demonstrated the feasibility of fully automated probabilistic record linkage using identifiers that are routinely collected in health facilities in South Africa. Our study also shows that matching statistics can be improved if other identifiers (e.g., another household member's first name) are added to the set of matching variables, and, to a lesser extent, with clerical review. Matching success is, however, correlated with background characteristics that are indicative of the instability of personal attributes over time (e.g., surname in the case of women) or with misreporting (e.g., age).
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| 7. |
- Kiejna, A, et al.
(författare)
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Epidemiological studies of cognitive impairment and dementia across Eastern and Middle European countries (epidemiology of dementia in Eastern and Middle European Countries)
- 2011
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Ingår i: International Journal of Geriatric Psychiatry. - : Wiley. - 0885-6230 .- 1099-1166. ; 26:2, s. 111-117
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Tidskriftsartikel (refereegranskat)abstract
- Objective To determine the availability and the consistency of prevalence findings of epidemiological studies on cognitive impairment and dementia conducted in Eastern and Middle Europe.Methods We adopted a stepwise multimethod study approach consisting of iterative literature searches for epidemiological articles published between 1990 and 2006 and subsequent data analyses of published material, reanalyses of existing accessible epidemiological data sets and expert inquiries in Eastern and Middle European countries. Systematic computer-assisted searches used the keywords: "dementia", "Alzheimer", "cognitive impairment", "incidence", "prevalence", "epidemiology" in combination with the name of the relevant countries or "Europe" in English and Polish language. We supplemented the literature search with a review of the references in the articles that were identified during the initial search.Results We were able to find few regional and country-specific epidemiological studies of various kinds (population-based, cohort, cross-sectional studies) and conducted on different restricted population groups of patients (from neurological units, out-patients units, residential homes). No studies were identified from most of the countries taken under consideration and the ones we found were characterized by an immense diversity with a considerable degree of clinical and methodological variations. The few studies that there are suggest prevalence rates of dementia in Eastern Europe similar to those in Western Europe.Conclusions There is strong need for epidemiological studies in Eastern and Middle Europe, as well as for greater coordination and standardization of methods to improve the quality and comparability of epidemiological data to determine the prevalences' rates of dementia in all the EU countries.
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| 8. |
- Lambert, M. A., et al.
(författare)
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Estimating the burden of early onset dementia : systematic review of disease prevalence
- 2014
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Ingår i: European Journal of Neurology. - : John Wiley & Sons. - 1351-5101 .- 1468-1331. ; 21:4, s. 563-569
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Forskningsöversikt (refereegranskat)abstract
- Dementia is more common in older age but a number of people develop symptoms at a younger age and are said to have early onset dementia (EOD). Those with EOD face different challenges to those with onset later in life. It has been difficult to quantify this disease burden. This is a systematic review of papers reporting on the prevalence of EOD. A search of Medline and Embase was performed. This was followed by a hand search of the references of these papers. Eleven suitable studies were included. All of the data was from more economically developed countries. The studies were heterogeneous in their design hindering direct comparison. The majority of the papers looked at all types of dementia although many gave a breakdown of the prevalence of different subgroups. A variety of diagnostic criteria was employed. Figures of 38 to 260 per 100 000 are quoted by papers looking at various different types of dementia together with an onset of between 30 and 64 or up to 420 per 100 000 for those aged 55–64. Prevalence rises as age approaches 65. Epidemiological data for prevalence rates for EOD are sparse. EOD remains a rare condition with low case numbers. Assimilation and comparison of results from existing studies is difficult due to methodological heterogeneity. Cross-national standardization of methodology should be a priority for future research in this area.
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| 9. |
- Ren, Z., et al.
(författare)
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Giant Overlap between the Magnetic and Superconducting Phases of CeAu2Si2 under Pressure
- 2014
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Ingår i: Physical Review X. - : American Physical Society. - 2160-3308. ; 4:3, s. 031055-
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Tidskriftsartikel (refereegranskat)abstract
- High pressure provides a powerful means for exploring unconventional superconductivity which appears mostly on the border of magnetism. Here, we report the discovery of pressure-induced heavy-fermion superconductivity up to 2.5 K in the antiferromanget CeAu2Si2 (T-N approximate to 10 K). Remarkably, the magnetic and superconducting phases are found to overlap across an unprecedentedly wide pressure interval from 11.8 to 22.3 GPa. Moreover, both the bulk T-c and T-M are strongly enhanced when increasing the pressure from 16.7 to 20.2 GPa. T-c reaches a maximum at a pressure slightly below p(c) approximate to 22.5 GPa, at which magnetic order disappears. Furthermore, the scaling behavior of the resistivity provides evidence for a continuous delocalization of the Ce 4f electrons associated with a critical end point lying just above p(c). We show that the maximum T-c of CeAu2Si2 actually occurs at almost the same unit-cell volume as that of CeCu2Si2 and CeCu2Ge2, and when the Kondo and crystal-field splitting energies become comparable. Dynamical mean-filed theory calculations suggest that the peculiar behavior in pressurized CeAu2Si2 might be related to its Ce-4f orbital occupancy. Our results not only provide a unique example of the interplay between superconductivity and magnetism, but also underline the role of orbital physics in understanding Ce-based heavy-fermion systems.
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| 10. |
- Schnitzbauer, Andreas A, et al.
(författare)
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A prospective randomised, open-labeled, trial comparing sirolimus-containing versus mTOR-inhibitor-free immunosuppression in patients undergoing liver transplantation for hepatocellular carcinoma.
- 2010
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Ingår i: BMC cancer. - : Springer Science and Business Media LLC. - 1471-2407. ; 10
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Tidskriftsartikel (refereegranskat)abstract
- The potential anti-cancer effects of mammalian target of rapamycin (mTOR) inhibitors are being intensively studied. To date, however, few randomised clinical trials (RCT) have been performed to demonstrate anti-neoplastic effects in the pure oncology setting, and at present, no oncology endpoint-directed RCT has been reported in the high-malignancy risk population of immunosuppressed transplant recipients. Interestingly, since mTOR inhibitors have both immunosuppressive and anti-cancer effects, they have the potential to simultaneously protect against immunologic graft loss and tumour development. Therefore, we designed a prospective RCT to determine if the mTOR inhibitor sirolimus can improve hepatocellular carcinoma (HCC)-free patient survival in liver transplant (LT) recipients with a pre-transplant diagnosis of HCC.
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