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- Gao, YX, et al.
(author)
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Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis
- 2020
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In: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 10:1, s. 12184-
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Journal article (peer-reviewed)abstract
- We employed Mendelian randomization (MR) to evaluate the causal relationship between leukocyte telomere length (LTL) and amyotrophic lateral sclerosis (ALS) with summary statistics from genome-wide association studies (n = ~ 38,000 for LTL and ~ 81,000 for ALS in the European population; n = ~ 23,000 for LTL and ~ 4,100 for ALS in the Asian population). We further evaluated mediation roles of lipids in the pathway from LTL to ALS. The odds ratio per standard deviation decrease of LTL on ALS was 1.10 (95% CI 0.93–1.31, p = 0.274) in the European population and 0.75 (95% CI 0.53–1.07, p = 0.116) in the Asian population. This null association was also detected between LTL and frontotemporal dementia in the European population. However, we found that an indirect effect of LTL on ALS might be mediated by low density lipoprotein (LDL) or total cholesterol (TC) in the European population. These results were robust against extensive sensitivity analyses. Overall, our MR study did not support the direct causal association between LTL and the ALS risk in neither population, but provided suggestive evidence for the mediation role of LDL or TC on the influence of LTL and ALS in the European population.
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- Bastard, P, et al.
(author)
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Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs
- 2022
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In: Science immunology. - : American Association for the Advancement of Science (AAAS). - 2470-9468. ; 78:7490, s. eabp8966-
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Journal article (peer-reviewed)abstract
- Life-threatening ‘breakthrough’ cases of critical COVID-19 are attributed to poor or waning antibody response to the SARS-CoV-2 vaccine in individuals already at risk. Pre-existing autoantibodies (auto-Abs) neutralizing type I IFNs underlie at least 15% of critical COVID-19 pneumonia cases in unvaccinated individuals; however, their contribution to hypoxemic breakthrough cases in vaccinated people remains unknown. Here, we studied a cohort of 48 individuals (age 20-86 years) who received 2 doses of an mRNA vaccine and developed a breakthrough infection with hypoxemic COVID-19 pneumonia 2 weeks to 4 months later. Antibody levels to the vaccine, neutralization of the virus, and auto-Abs to type I IFNs were measured in the plasma. Forty-two individuals had no known deficiency of B cell immunity and a normal antibody response to the vaccine. Among them, ten (24%) had auto-Abs neutralizing type I IFNs (aged 43-86 years). Eight of these ten patients had auto-Abs neutralizing both IFN-α2 and IFN-ω, while two neutralized IFN-ω only. No patient neutralized IFN-β. Seven neutralized 10 ng/mL of type I IFNs, and three 100 pg/mL only. Seven patients neutralized SARS-CoV-2 D614G and the Delta variant (B.1.617.2) efficiently, while one patient neutralized Delta slightly less efficiently. Two of the three patients neutralizing only 100 pg/mL of type I IFNs neutralized both D61G and Delta less efficiently. Despite two mRNA vaccine inoculations and the presence of circulating antibodies capable of neutralizing SARS-CoV-2, auto-Abs neutralizing type I IFNs may underlie a significant proportion of hypoxemic COVID-19 pneumonia cases, highlighting the importance of this particularly vulnerable population.
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- Phadke, R., et al.
(author)
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RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy—Four additional patients and a review of the current literature
- 2020
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In: Journal of Inherited Metabolic Disease. - : Wiley. - 0141-8955 .- 1573-2665. ; 43:5, s. 1002-1013
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Journal article (peer-reviewed)abstract
- In this article, we report four new patients, from three kindreds, with pathogenic variants in RBCK1 and a multisystem disorder characterised by widespread polyglucosan storage. We describe the clinical presentation of progressive skeletal and cardiac myopathy, combined immunodeficiencies and auto-inflammation, illustrate in detail the histopathological findings in multiple tissue types, and report muscle MRI findings. © 2020 SSIEM
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- Yurganov, L.N., et al.
(author)
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A Quantitative Assessment of the 1998 Carbon Monoxide Emission Anomaly in the Northern Hemisphere Based on Total Column and Surface Concentration Measurements
- 2004
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In: Journal of Geophysical Research. - 0148-0227 .- 2156-2202. ; 109:15, s. D15305-
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Journal article (peer-reviewed)abstract
- Carbon monoxide abundances in the atmosphere have been measured between January 1996 and December 2001 in the high Northern Hemisphere (HNH) (30degrees-90degreesN) using two different approaches: total column amounts of CO retrieved from infrared solar spectra and CO mixing ratios measured in situ at ground-based stations. The data were averaged, and anomalies of the CO HNH burden ( deviations of the total tropospheric mass between 30degreesN and 90degreesN from the mean seasonal profile, determined as the 5 year average) were analyzed. The anomalies obtained from in situ and total column data agree well and both show two maxima, by far the largest in October 1998 and a lower one in August 1996. A noticeable decrease of the positive 1998 summer anomaly with increasing height was found. A box model was applied, and anomalies in source rates were obtained under the assumption of insignificant interannual sink variations. In August 1998 the HNH emission anomaly was estimated to be 38 Tg month(-1). The annual 1998 emission positive anomaly was 96 Tg yr(-1). Nearly all excess CO may be attributed to the emissions from boreal forest fires. According to available inventories, biomass burning emits around 52 Tg yr(-1) during the "normal'' years; therefore total biomass emissions in 1998 were as large as 148 Tg yr(-1). In August 1998, CO contribution from the biomass burning was twice as large as that from fossil fuel combustion. The results were compared to available emission inventories.
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