| 1. |
- Cruz, Raquel, et al.
(författare)
-
Novel genes and sex differences in COVID-19 severity
- 2022
-
Ingår i: Human Molecular Genetics. - : Oxford University Press. - 0964-6906 .- 1460-2083. ; 31:22, s. 3789-3806
-
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.
|
|
| 2. |
|
|
| 3. |
- Barack, Leor, et al.
(författare)
-
Black holes, gravitational waves and fundamental physics : a roadmap
- 2019
-
Ingår i: Classical and quantum gravity. - : IOP Publishing. - 0264-9381 .- 1361-6382. ; 36:14
-
Forskningsöversikt (refereegranskat)abstract
- The grand challenges of contemporary fundamental physics dark matter, dark energy, vacuum energy, inflation and early universe cosmology, singularities and the hierarchy problem all involve gravity as a key component. And of all gravitational phenomena, black holes stand out in their elegant simplicity, while harbouring some of the most remarkable predictions of General Relativity: event horizons, singularities and ergoregions. The hitherto invisible landscape of the gravitational Universe is being unveiled before our eyes: the historical direct detection of gravitational waves by the LIGO-Virgo collaboration marks the dawn of a new era of scientific exploration. Gravitational-wave astronomy will allow us to test models of black hole formation, growth and evolution, as well as models of gravitational-wave generation and propagation. It will provide evidence for event horizons and ergoregions, test the theory of General Relativity itself, and may reveal the existence of new fundamental fields. The synthesis of these results has the potential to radically reshape our understanding of the cosmos and of the laws of Nature. The purpose of this work is to present a concise, yet comprehensive overview of the state of the art in the relevant fields of research, summarize important open problems, and lay out a roadmap for future progress. This write-up is an initiative taken within the framework of the European Action on 'Black holes, Gravitational waves and Fundamental Physics'.
|
|
| 4. |
-
Cambio global, una mirada desde Iberoamérica
- 2018
-
Samlingsverk (redaktörskap) (populärvet., debatt m.m.)abstract
- Han transcurrido ya 10 años desde la fundación del proyecto “Laboratorio Internacional en Cambio Globlal” (LINCGlobal), una iniciativa pionera de integración y colaboración científica de largo plazo en ciencias de cambio global entre investigadores de la Península Ibérica y Latinoamérica.El LINCGlobal, inicialmente impulsado y financiado por el Consejo Superior de Investigaciones Científicas (CSIC), España y por la Universidad Católica de Chile, con una incorporación más reciente de la Universidad Federal de Rio de Janeiro, Brasil, actualmente reúne a más de una treintena de investigadores de muy alto nivel científico en temas de cambio global.Los fundadores tuvimos en mente la visión de establecer grupos iberoamericanos multidisciplinares y líneas conjuntas de investigación conducentes a la realización y publicación de investigaciones en temas de cambios globales relevantes en diversos ámbitos de los ecosistemas marinos y terrestres; usando para ello aproximaciones tanto experimentales, correlacionales como de modelización y de macroecología.No menor fue la visión relacionada con impulsar y fortalecer el intercambio iberoamericano en la formación conjunta de investigadores jóvenes a nivel de doctorado y postdoctorado, la generación de nuevas fórmulas de gobernanza y sobretodo la necesaria y urgente diseminación a la sociedad de la información generada, con un nivel de comprensión adecuado. En esta década los objetivos generales de la visón y los más específicos de los distinto grupos se han cumplido más que a cabalidad y así lo demuestran los cientos de publicaciones realizadas por los investigadores del Laboratorio y las Memorias del proyecto.Hoy, al finalizar la primera década de nuestra aventura iberoamericana en cambio global, como uno de los Directores fundadores del LINCGlobal, me es muy grato realizar el Prólogo del libro “Cambio Global una mirada desde Iberoamérica”. El condensa muchos de los avances en investigación realizados en la década no solo por los investigadores de plantilla del proyecto, sino que además por numerosos alumnos de doctorado, postdoctorado y colaboradores. El libro, editado por los Profesores Pablo Marquet, Fernando Valladares, Sandra Magro, Aurora Gaxiola y Alex Enrich-Prast contiene 14 capítulos en que están involucrados 50 autores iberoamericanos ligados al LINCGlobal. Los diferentes capítulos presentan una amplia cobertura de las líneas de investigación abordadas por los miembros del Laboratorio Internacional, desde contextualización de cambios globales en el pasado, la población humana, uso de los recursos y redes comerciales, hasta el papel regulador de los océanos en el sistema terrestre, la radiación ultravioleta y las pesquerías marinas. Los cambios globales en relación con los ciclos biogeoquímicos, la disponibilidad de agua, la biodiversidad y los impactos sobre las redes de interacción ecológica y la distribución de las especies son abordados y discutidos en profundidad. Finalmente se muestra un caso de estudio para los cambios globales en un lago de Chile central durante el último milenio. El esfuerzo de síntesis de los autores es loable, del mismo modo que la inclusión de infografías que permiten aprehender con facilidad los tipos de cambios globales y sus consecuencias en los ecosistemas terrestres y oceánicos.Solo al considerar los contenidos de este libro visualizo para los integrantes del LINCGlobal al menos dos desafíos. Primero ser consecuente con la visión iberoamericana del Laboratorio y traducir el libro al portugués, para así hacer más accesible la información a estudiantes y público en general de habla portuguesa. Segundo, y mucho más desafiante, bajar y socializar la información científica contenida en él a niveles de público general y en especial para estudiantes de educación primaria y secundaria en Latinoamérica. Ello requiere, ciertamente, un esfuerzo extra significativo. Sin embargo, por ejemplo, el trabajo ya realizado en el libro con las infografías y el uso de excelentes fotografías facilitará ese camino. En ello el uso de las redes sociales no debería descartarse.A mis amigos del Laboratorio Internacional y a los lectores y usuarios del libro: bienvenidos a la era de la ciencia post-normal, donde tanto la construcción del conocimiento y su publicación, como su diseminación y democratización hacia la sociedad, en forma simple y didáctica, representa un desafío mayor.Santiago de Chile, septiembre 2018Juan Carlos CastillaPontificia Universidad Católica de Chile
|
|
| 5. |
- Laux, Timothy S, et al.
(författare)
-
Nicaragua revisited : evidence of lower prevalence of chronic kidney disease in a high-altitude, coffee-growing village
- 2012
-
Ingår i: JN. Journal of Nephrology (Milano. 1992). - : SAGE Publications. - 1121-8428 .- 1724-6059. ; 25:4, s. 533-540
-
Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Chronic kidney disease (CKD) is found at epidemic levels in certain populations of the Pacific Coast in northwestern Nicaragua especially in younger men. There are knowledge gaps concerning CKD's prevalence in regions at higher altitudes.METHODS: A cross-sectional study of adults between the ages of 20 and 60 years in 1 coffee-growing village in Nicaragua located at 1,000 m above sea level (MASL) altitude was performed. Predictors included participant sex, age, occupation, conventional CKD risk factors and other factors associated with CKD suggested by previous surveys in Central America. Outcomes included serum creatinine (SCr) values >1.2 mg/dL for men and >0.9 mg/dL for women, estimated glomerular filtration rate (GFR) <60 ml/min per 1.73 m2, dipstick proteinuria stratified as microalbuminuria (30-300 mg/dL) and macroalbuminuria (>300 mg/dL), hypertension and body mass index.RESULTS: Of 324 eligible participants, 293 were interviewed (90.4%), and 267 of those received the physical exam (82.4% overall). Of the sample, 45% were men. Prevalence rate of estimated GFR <60 ml/min per 1.73 m2 was 0 for men (0%) and 2 for women (1.4%). The prevalence of at least microalbuminuria was significantly higher among men compared with women (27.5% vs. 21.4%, respectively; p=0.02).CONCLUSIONS: The CKD prevalence in this village is comparable to a previously studied Nicaraguan coffee-farming region and much lower than previously screened portions of northwestern Nicaragua. There is heterogeneity in CKD prevalence across Nicaragua. At this time, screenings should target individuals living in previously identified, higher risk regions. More work is needed to understand determinants of CKD in this resource-poor nation.
|
|
| 6. |
|
|
| 7. |
- Tast Lahti, Elina, et al.
(författare)
-
One Health surveillance : A cross-sectoral detection, characterization, and notification of foodborne pathogens
- 2023
-
Ingår i: Frontiers In Public Health. - : Frontiers Media S.A.. - 2296-2565. ; 11
-
Tidskriftsartikel (refereegranskat)abstract
- IntroductionSeveral Proficiency Test (PT) or External Quality Assessment (EQA) schemes are currently available for assessing the ability of laboratories to detect and characterize enteropathogenic bacteria, but they are usually targeting one sector, covering either public health, food safety or animal health. In addition to sector-specific PTs/EQAs for detection, cross-sectoral panels would be useful for assessment of the capacity to detect and characterize foodborne pathogens in a One Health (OH) perspective and further improving food safety and interpretation of cross-sectoral surveillance data. The aims of the study were to assess the cross-sectoral capability of European public health, animal health and food safety laboratories to detect, characterize and notify findings of the foodborne pathogens Campylobacter spp., Salmonella spp. and Yersinia enterocolitica, and to develop recommendations for future cross-sectoral PTs and EQAs within OH. The PT/EQA scheme developed within this study consisted of a test panel of five samples, designed to represent a theoretical outbreak scenario. MethodsA total of 15 laboratories from animal health, public health and food safety sectors were enrolled in eight countries: Denmark, France, Italy, the Netherlands, Poland, Spain, Sweden, and the United Kingdom. The laboratories analyzed the samples according to the methods used in the laboratory and reported the target organisms at species level, and if applicable, serovar for Salmonella and bioserotype for Yersinia. ResultsAll 15 laboratories analyzed the samples for Salmonella, 13 for Campylobacter and 11 for Yersinia. Analytical errors were predominately false negative results. One sample (S. Stockholm and Y. enterocolitica O:3/BT4) with lower concentrations of target organisms was especially challenging, resulting in six out of seven false negative results. These findings were associated with laboratories using smaller sample sizes and not using enrichment methods. Detection of Salmonella was most commonly mandatory to notify within the three sectors in the eight countries participating in the pilot whereas findings of Campylobacter and Y. enterocolitica were notifiable from human samples, but less commonly from animal and food samples. DiscussionThe results of the pilot PT/EQA conducted in this study confirmed the possibility to apply a cross-sectoral approach for assessment of the joint OH capacity to detect and characterize foodborne pathogens.
|
|
