| 1. |
- Niemi, MEK, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 2. |
- Kanai, M, et al.
(författare)
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- 2023
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swepub:Mat__t
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| 3. |
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| 4. |
- Durno, C., et al.
(författare)
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Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance
- 2021
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Ingår i: Journal of Clinical Oncology. - : American Society of Clinical Oncology (ASCO). - 0732-183X .- 1527-7755. ; 39:25
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE Constitutional mismatch repair deficiency syndrome (CMMRD) is a lethal cancer predisposition syndrome characterized by early-onset synchronous and metachronous multiorgan tumors. We designed a surveillance protocol for early tumor detection in these individuals. PATIENTS AND METHODS Data were collected from patients with confirmed CMMRD who were registered in the International Replication Repair Deficiency Consortium. Tumor spectrum, efficacy of the surveillance protocol, and malignant transformation of low-grade lesions were examined for the entire cohort. Survival outcomes were analyzed for patients followed prospectively from the time of surveillance implementation. RESULTS A total of 193 malignant tumors in 110 patients were identified. Median age of first cancer diagnosis was 9.2 years (range: 1.7-39.5 years). For patients undergoing surveillance, all GI and other solid tumors, and 75% of brain cancers were detected asymptomatically. By contrast, only 16% of hematologic malignancies were detected asymptomatically (P < .001). Eighty-nine patients were followed prospectively and used for survival analysis. Five-year overall survival (OS) was 90% (95% CI, 78.6 to 100) and 50% (95% CI, 39.2 to 63.7) when cancer was detected asymptomatically and symptomatically, respectively (P = .001). Patient outcome measured by adherence to the surveillance protocol revealed 4-year OS of 79% (95% CI, 54.8 to 90.9) for patients undergoing full surveillance, 55% (95% CI, 28.5 to 74.5) for partial surveillance, and 15% (95% CI, 5.2 to 28.8) for those not under surveillance (P < .0001). Of the 64 low-grade tumors detected, the cumulative likelihood of transformation from low-to high-grade was 81% for GI cancers within 8 years and 100% for gliomas in 6 years. CONCLUSION Surveillance and early cancer detection are associated with improved OS for individuals with CMMRD.
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| 5. |
- Zhou, Wei, et al.
(författare)
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Global Biobank Meta-analysis Initiative : Powering genetic discovery across human disease
- 2022
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Ingår i: Cell Genomics. - : Elsevier. - 2666-979X. ; 2:10
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Tidskriftsartikel (refereegranskat)abstract
- Biobanks facilitate genome-wide association studies (GWASs), which have mapped genomic loci across a range of human diseases and traits. However, most biobanks are primarily composed of individuals of European ancestry. We introduce the Global Biobank Meta-analysis Initiative (GBMI)-a collaborative network of 23 biobanks from 4 continents representing more than 2.2 million consented individuals with genetic data linked to electronic health records. GBMI meta-analyzes summary statistics from GWASs generated using harmonized genotypes and phenotypes from member biobanks for 14 exemplar diseases and endpoints. This strategy validates that GWASs conducted in diverse biobanks can be integrated despite heterogeneity in case definitions, recruitment strategies, and baseline characteristics. This collaborative effort improves GWAS power for diseases, benefits understudied diseases, and improves risk prediction while also enabling the nomination of disease genes and drug candidates by incorporating gene and protein expression data and providing insight into the underlying biology of human diseases and traits.
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| 6. |
- Wilkinson, Alex, et al.
(författare)
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Environmental Sustainability in Respiratory Care : An Overview of the healthCARe-Based envirONmental Cost of Treatment (CARBON) Programme
- 2022
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Ingår i: Advances in Therapy. - : Springer. - 0741-238X .- 1865-8652. ; 39:5, s. 2270-2280
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Tidskriftsartikel (refereegranskat)abstract
- Introduction Faced with the challenges of climate change, countries are seeking to decarbonise their economies. A greater understanding of what comprises the carbon footprint of care in healthcare systems will identify potential strategies for reduction of greenhouse gas (GHG) emissions. In respiratory care, the focus has been on preventer inhalers, thereby omitting contributions from other aspects such as healthcare resource utilisation (HCRU) and reliever inhaler use. The healthCARe-Based envirONmental cost of treatment (CARBON) programme aims to provide a broader understanding of the carbon footprint associated with respiratory care. Methods CARBON will quantify the carbon footprint of medications and HCRU among approximately 2.5 million patients with respiratory diseases from seven ongoing studies spanning more than 40 countries. Across studies, to obtain the carbon footprint of all inhaled, oral, and injectable medications, SimaPro life cycle assessment software modelling resource and energy consumption data, in addition to Ecoinvent(R) data sets and certified published studies, will be used. The carbon footprint of HCRU in the United Kingdom will be estimated by applying the methodology and data obtained from the Sustainable Healthcare Coalition Care Pathway Guidance. Planned Outcomes In asthma, CARBON studies will quantify GHG emissions associated with well-controlled versus not well-controlled asthma, the contribution of short-acting beta(2)-agonist (SABA) reliever inhalers (and their potential overuse) to the carbon footprint of care, and how implementation of treatment guidelines can drive improved outcomes and footprint reduction. In chronic obstructive pulmonary disease (COPD), CARBON studies will assess the impact of exacerbation history on GHG emissions associated with HCRU and SABA use in subsequent years and estimate the carbon footprint associated with all aspects of COPD care. Conclusion CARBON aims to show that the principle of evidence-led care focused on improvement of clinical outcomes has the potential to benefit patients and the environment.
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