| 1. |
- Parsons, Michael T, et al.
(författare)
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Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification
- 2019
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Ingår i: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; , s. 1557-1578
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Tidskriftsartikel (refereegranskat)abstract
- The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes. Independent data types currently incorporated in the model for assessing BRCA1 and BRCA2 variants include clinically calibrated prior probability of pathogenicity based on variant location and bioinformatic prediction of variant effect, co-segregation, family cancer history profile, co-occurrence with a pathogenic variant in the same gene, breast tumor pathology, and case-control information. Research and clinical data for multifactorial likelihood analysis were collated for 1395 BRCA1/2 predominantly intronic and missense variants, enabling classification based on posterior probability of pathogenicity for 734 variants: 447 variants were classified as (likely) benign, and 94 as (likely) pathogenic; 248 classifications were new or considerably altered relative to ClinVar submissions. Classifications were compared to information not yet included in the likelihood model, and evidence strengths aligned to those recommended for ACMG/AMP classification codes. Altered mRNA splicing or function relative to known non-pathogenic variant controls were moderately to strongly predictive of variant pathogenicity. Variant absence in population datasets provided supporting evidence for variant pathogenicity. These findings have direct relevance for BRCA1 and BRCA2 variant evaluation, and justify the need for gene-specific calibration of evidence types used for variant classification. This article is protected by copyright. All rights reserved.
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| 2. |
- Balducci, Marco, et al.
(författare)
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SARS-CoV-2 vaccination and risk of infectious diseases in hospitalized older patients
- 2024
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Ingår i: European Geriatric Medicine. - 1878-7649 .- 1878-7657. ; 15:2, s. 509-517
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Tidskriftsartikel (refereegranskat)abstract
- Purpose Vaccinations, for example flu vaccine, may be a cause of cross-reactive immunostimulation that prevents a larger spectrum of infections. However, whether SARS-CoV-2 vaccinations may also determine this effect is unclear. This study aims, first, to assess the incidence of infections at hospital admission and during the hospitalization in older inpatients vaccinated and unvaccinated against SARS-CoV-2; second, to compare length of hospital stay and in-hospital mortality between vaccinated and unvaccinated individuals.Methods This retrospective study included 754 older inpatients admitted to the Geriatrics and Orthogeriatrics Units of the University Hospital of Ferrara (Italy) between March 2021 and November 2021. Sociodemographic and health-related data, and the diagnosis of infections at hospital admission and during hospitalization were collected from medical records.Results The sample’s mean age was 87.2 years, 59.2% were females, and 75.5% were vaccinated against SARS-CoV-2. Vaccinated individuals had 36% lower odds of intra-hospital infections (OR = 0.64, 95%CI 0.44–0.94) and 39% lower in-hospital death (HR = 0.61, 95%CI 0.39–0.95), also after adjusting for potential confounders, while no significant results emerged about infections at hospital admission. Considering the hospitalization’s endpoints, SARS-CoV-2 vaccination was associated with a lower probability of being transferred to long-term care or other hospital departments than returning home (OR = 0.63, 95%CI 0.40–0.99).Conclusions In older inpatients, SARS-CoV-2 vaccination seems to be associated with a lower likelihood of intra-hospital infectious diseases not caused by SARS-CoV-2 and all-cause in-hospital mortality. The vaccination coverage in the older population could limit not only the onset and severity of COVID-19 but also the occurrence of other infectious diseases.
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| 3. |
- D’Amico, Michele, et al.
(författare)
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Ectomycorrhizal utilization of different phosphorus sources in a glacier forefront in the Italian Alps
- 2020
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Ingår i: Plant and Soil. - : Springer Science and Business Media LLC. - 0032-079X .- 1573-5036. ; 446:1-2, s. 81-95
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Tidskriftsartikel (refereegranskat)abstract
- Aims: In deglaciated surfaces, lithology influences habitat development. In particular, serpentinite inhibits soil evolution and plant colonization because of insufficient phosphorus (P) content, among other stressful properties. In nutrient-poor environments, ectomycorrhizal fungi (EMF) play a key role exploring the soil for P beyond the rhizosphere. In this study, we followed the role of EMF in accessing inorganic and organic P along two proglacial soil chronosequences in the Alps (NW Italy), respectively characterized by pure serpentinite till and serpentinite mixed with 10% of gneiss, and colonized by European Larch. Methods: The access to inorganic and organic P forms by EMF was studied using specific mesh-bags for fungal hyphae entry, filled with quartz sand and inorganic phosphate (Pi) or myo-inositolhexaphosphate (InsP6) adsorbed onto goethite. They were incubated over 13 months at the organic/mineral horizon interface. After harvesting, EMF colonization via ergosterol analysis and the amount of P and Fe removed from mesh bags were measured. Results: Ergosterol increased along the two chronosequences with slightly greater values on serpentinite and in Pi-containing bags. Up to 65% of Pi was removed from mesh-bags, only partly accompanied by a parallel release of Fe. The amount of InsP6 released was instead less than 45% and mostly removed with goethite. Conclusions: The results suggest that, in extremely P-poor environments, EMF are able to release both inorganic and organic P forms from highly stabilized associations.
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| 4. |
- Pattaro, Cristian, et al.
(författare)
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Prospective epidemiological, molecular, and genetic characterization of a novel coronavirus disease in the Val Venosta/Vinschgau : the CHRIS COVID-19 study protocol
- 2022
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Ingår i: Pathogens and Global Health. - : Taylor & Francis. - 2047-7724 .- 2047-7732. ; 116:2, s. 128-136
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Tidskriftsartikel (refereegranskat)abstract
- The COVID-19 pandemic has been threatening the healthcare and socioeconomic systems of entire nations. While population-based surveys to assess the distribution of SARS-CoV-2 infection have become a priority, pre-existing longitudinal studies are ideally suited to assess the determinants of COVID-19 onset and severity.The Cooperative Health Research In South Tyrol (CHRIS) study completed the baseline recruitment of 13,393 adults from the Venosta/Vinschgau rural district in 2018, collecting extensive phenotypic and biomarker data, metabolomic data, densely imputed genotype and whole-exome sequencing data.Based on CHRIS, we designed a prospective study, called CHRIS COVID-19, aimed at: 1) estimating the incidence of SARS-CoV-2 infections; 2) screening for and investigating the determinants of incident infection among CHRIS participants and their household members; 3) monitoring the immune response of infected participants prospectively.An online screening questionnaire was sent to all CHRIS participants and their household members. A random sample of 1450 participants representative of the district population was invited to assess active (nasopharyngeal swab) or past (serum antibody test) infections. We prospectively invited for complete SARS-CoV-2 testing all questionnaire completers gauged as possible cases of past infection and their household members. In positive tested individuals, antibody response is monitored quarterly for one year. Untested and negative participants receive the screening questionnaire every four weeks until gauged as possible incident cases or till the study end.Originated from a collaboration between researchers and community stakeholders, the CHRIS COVID-19 study aims at generating knowledge about the epidemiological, molecular, and genetic characterization of COVID-19 and its long-term sequelae.
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