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- Cruz, Raquel, et al.
(författare)
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Novel genes and sex differences in COVID-19 severity
- 2022
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Ingår i: Human Molecular Genetics. - : Oxford University Press. - 0964-6906 .- 1460-2083. ; 31:22, s. 3789-3806
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Tidskriftsartikel (refereegranskat)abstract
- Here, we describe the results of a genome-wide study conducted in 11 939 coronavirus disease 2019 (COVID-19) positive cases with an extensive clinical information that were recruited from 34 hospitals across Spain (SCOURGE consortium). In sex-disaggregated genome-wide association studies for COVID-19 hospitalization, genome-wide significance (P < 5 × 10−8) was crossed for variants in 3p21.31 and 21q22.11 loci only among males (P = 1.3 × 10−22 and P = 8.1 × 10−12, respectively), and for variants in 9q21.32 near TLE1 only among females (P = 4.4 × 10−8). In a second phase, results were combined with an independent Spanish cohort (1598 COVID-19 cases and 1068 population controls), revealing in the overall analysis two novel risk loci in 9p13.3 and 19q13.12, with fine-mapping prioritized variants functionally associated with AQP3 (P = 2.7 × 10−8) and ARHGAP33 (P = 1.3 × 10−8), respectively. The meta-analysis of both phases with four European studies stratified by sex from the Host Genetics Initiative (HGI) confirmed the association of the 3p21.31 and 21q22.11 loci predominantly in males and replicated a recently reported variant in 11p13 (ELF5, P = 4.1 × 10−8). Six of the COVID-19 HGI discovered loci were replicated and an HGI-based genetic risk score predicted the severity strata in SCOURGE. We also found more SNP-heritability and larger heritability differences by age (<60 or ≥60 years) among males than among females. Parallel genome-wide screening of inbreeding depression in SCOURGE also showed an effect of homozygosity in COVID-19 hospitalization and severity and this effect was stronger among older males. In summary, new candidate genes for COVID-19 severity and evidence supporting genetic disparities among sexes are provided.
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- Casanueva, Felipe F., et al.
(författare)
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Criteria for the definition of Pituitary Tumor Centers of Excellence (PTCOE): A Pituitary Society Statement
- 2017
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Ingår i: Pituitary. - : Springer Science and Business Media LLC. - 1386-341X .- 1573-7403. ; 20, s. 489-498
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Forskningsöversikt (refereegranskat)abstract
- © 2017, The Author(s). Introduction: With the goal of generate uniform criteria among centers dealing with pituitary tumors and to enhance patient care, the Pituitary Society decided to generate criteria for developing Pituitary Tumors Centers of Excellence (PTCOE). Methods: To develop that task, a group of ten experts served as a Task Force and through two years of iterative work an initial draft was elaborated. This draft was discussed, modified and finally approved by the Board of Directors of the Pituitary Society. Such document was presented and debated at a specific session of the Congress of the Pituitary Society, Orlando 2017, and suggestions were incorporated. Finally the document was distributed to a large group of global experts that introduced further modifications with final endorsement. Results: After five years of iterative work a document with the ideal criteria for a PTCOE is presented. Conclusions: Acknowledging that very few centers in the world, if any, likely fulfill the requirements here presented, the document may be a tool to guide improvements of care delivery to patients with pituitary disorders. All these criteria must be accommodated to the regulations and organization of Health of a given country.
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- Martinez-Assucena, A., et al.
(författare)
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Rehabilitation for multiple sclerosis, in adults (II); management and impact on impairment, functioning, and quality of life : An overview
- 2010
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Ingår i: Critical Reviews in Physical and Rehabilitation Medicine. - 0896-2960. ; 22:1-4, s. 179-240
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Tidskriftsartikel (refereegranskat)abstract
- Multiple sclerosis (MS) often leads to different levels of severity and progression of impairment and disability and to dissimilar levels of limitation in activities and participation in different social domains, with varying impacts on quality of life (QoL) among people with MS (PwMS). Results have shown that, for PwMS, prioritizing goal setting may enhance adherence to treatment. Interdisciplinary rehabilitation may prolong the functional status level of PwMS, may result in transient improvement in the aspects of impairment features, may increase their participation in activities, and may improve their QoL, even when disease progression is not modified. Single rehabilitation packages of comprehensive care have proven beneficial, such as physiotherapy, which enhances aerobic capacity, strength, pain, mood, mobility, and QoL. Occupational therapy can help reduce the impact of impairment on QoL, especially fatigue. Neuropsychological interventions, such as learning and memory remediation, psychological intervention for depressive disorders, and acquistion of coping skills and self-management techniques help PwMS to adjust to disease and disability. Speech therapy can improve intelligibility of communication. Learning swallowing techniques can help prevent material from entering the airway. Clean intermittent self-catheterization can help prevent urinary tract infections. Power wheelchairs enhance occupational performance and energy conservation. Further vocational rehabilitation settings and research are required for more appropriate interventions due to high unemployment rates among PwMS. Comprehensive care for PwMS should include planning for future independent living and long-term care needs.
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