A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type with Different Phenotypes in the Same Family

Vascular Ehlers-Danlos syndrome (vEDS) is a rare and severe connective tissue disorder caused by mutations in the collagen type III alpha I chain (COL3A1) gene. We describe a pathogenetic heterozygous COL3A1 mutation c.3140 G>A, p. Gly1047Asp, identified using next-generation sequencing, in a 40-year-old Italian female. The genetic test performed on her relatives, which present different clinical phenotypes, confirmed that they carry the same mutation in heterozygous state. This finding confirms that mutations causing vEDS have an incomplete penetrance

Burden of disease from exposure to secondhand smoke in children in Europe

Background Secondhand smoke (SHS) exposure at home and fetal SHS exposure during pregnancy are a major cause of disease among children. The aim of this study is quantifying the burden of disease due to SHS exposure in children and in pregnancy in 2006–2017 for the 28 European Union (EU) countries. Methods Exposure to SHS was estimated using a multiple imputation procedure based on the Eurobarometer surveys, and SHS exposure burden was estimated with the comparative risk assessment method using meta-analytical relative risks. Data on deaths and disability-adjusted life years (DALYs) were collected from National statistics and from the Global Burden of Disease Study. Results Exposure to SHS and its attributable burden stalled in 2006–2017; in pregnant women, SHS exposure was 19.8% in 2006, 19.1% in 2010, and 21.0% in 2017; in children it was 10.1% in 2006, 9.6% in 2010, and 12.1% in 2017. In 2017, 35,633 DALYs among children were attributable to SHS exposure in the EU, mainly due to low birth weight. Conclusions Comprehensive smoking bans up to 2010 contributed to reduce SHS exposure and its burden in children immediately after their implementation; however, SHS exposure still occurs, and in 2017, its burden in children was still relevant

A New Academic Quality at Work Tool (AQ@workT) to Assess the Quality of Life at Work in the Italian Academic Context

The present study provides evidence for a valid and reliable tool, the Academic Quality at Work Tool (AQ@workT), to investigate the quality of life at work in academics within the Italian university sector. The AQ@workT was developed by the QoL@Work research team, namely a group of expert academics in the field of work and organizational psychology affiliated with the Italian Association of Psychologists. The tool is grounded in the job demands-resources model and its psychometric properties were assessed in three studies comprising a wide sample of lecturers, researchers, and professors: a pilot study (N = 120), a calibration study (N = 1084), and a validation study (N = 1481). Reliability and content, construct, and nomological validity were supported, as well as measurement invariance across work role (researchers, associate professors, and full professors) and gender. Evidence from the present study shows that the AQ@workT represents a useful and reliable tool to assist university management to enhance quality of life, to manage work-related stress, and to mitigate the potential for harm to academics, particularly during a pandemic. Future studies, such as longitudinal tests of the AQ@workT, should test predictive validity among the variables in the tool

Burden of disease attributable to second-hand smoke exposure: a systematic review

Our aim was to provide a systematic review of studies on the burden of disease due to second-hand smoke (SHS) exposure, reviewing methods, exposure assessment, diseases causally linked to SHS, health outcomes, and estimates available to date. A literature review of studies on the burden of disease from SHS exposure, available in PubMed and SCOPUS, published 2007–2018 in English language, was carried out following the PRISMA recommendations. Overall, 588 studies were first identified, and 94 were eligible. Seventy-two studies were included in the systematic review. Most of them were based on the comparative risk assessment approach, assessing SHS exposure using mainly surveys on exposure at home/workplaces. Diseases more frequently studied were: lung cancer, ischemic heart disease, stroke, chronic obstructive pulmonary disease, asthma and breast cancer in adults; lower respiratory tract infection, otitis media, asthma, sudden infant death syndrome and low birth weight in children. The SHS exposure assessment and the reported population attributable fractions (PAF) were largely heterogeneous. As an example, the PAF from lung cancer varied between 0.6% and 20.5%. Moreover, PAF were estimated applying relative risks and SHS exposures with no consistent definitions or with different age classes. The research gap on the SHS exposure burden is shrinking. However, estimates are not yet available for a number of countries, particularly the Middle Eastern and African countries, and not all diseases with the strongest evidence of causation, such as sudden infant death syndrome, have been explored. Moreover, in some cases the applied methodology revealed relatively low quality of data

Cumulative asbestos exposure and mortality from asbestos related diseases in a pooled analysis of 21 asbestos cement cohorts in Italy

Background: Despite the available information on cancer risk, asbestos is used in large areas in the world, mostly in the production of asbestos cement. Moreover, questions are raised regarding the shape of the dose response relation, the relation with time since exposure and the association with neoplasms in various organs. We conducted a study on the relationship between cumulative asbestos exposure and mortality from asbestos related diseases in a large Italian pool of 21 cohorts of asbestos-cement workers with protracted exposure to both chrysotile and amphibole asbestos. Methods: The cohort included 13,076 workers, 81.9% men and 18.1% women, working in 21 Italian asbestos-cement factories, with over 40 years of observation. Exposure was estimated by plant and period, and weighted for the type of asbestos used. Data were analysed with consideration of cause of death, cumulative exposure and time since first exposure (TSFE), and by gender. SMRs were computed using reference rates by region, gender and calendar time. Poisson regression models including cubic splines were used to analyse the effect of cumulative exposure to asbestos and TSFE on mortality for asbestos-related diseases. 95% Confidence Intervals (CI) were computed according to the Poisson distribution. Results: Mortality was significantly increased for ‘All Causes’ and ‘All Malignant Neoplasm (MN)’, in both genders. Considering asbestos related diseases (ARDs), statistically significant excesses were observed for MN of peritoneum (SMR: men 14.19; women 15.14), pleura (SMR: 22.35 and 48.10), lung (SMR: 1.67 and 1.67), ovary (in the highest exposure class SMR 2.45), and asbestosis (SMR: 507 and 1023). Mortality for ARDs, in particular pleural and peritoneal malignancies, lung cancer, ovarian cancer and asbestosis increased monotonically with cumulative exposure. Pleural MN mortality increased progressively in the first 40 years of TSFE, then reached a plateau, while peritoneal MN showed a continuous increase. The trend of lung cancer SMRs also showed a flattening after 40 years of TSFE. Attributable proportions for pleural, peritoneal, and lung MN were respectively 96, 93 and 40%. Conclusions: Mortality for ARDs was associated with cumulative exposure to asbestos. Risk of death from pleural MN did not increase indefinitely with TSFE but eventually reached a plateau, consistently with reports from other recent studie

Italian pool of asbestos workers cohorts: asbestos related mortality by industrial sector and cumulative exposure

Objective. Italy has been a large user of asbestos and asbestos containing materials until the 1992 ban. We present a pooled cohort study on long-term mortality in exposed workers. Methods. Pool of 43 Italian asbestos cohorts (asbestos cement, rolling stock, shipbuilding, glasswork, harbors, insulation and other industries). SMRs were computed by industrial sector for the 1970-2010 period, for the major causes, using reference rates by age, sex, region and calendar period. Results. The study included 51 801 subjects (5741 women): 55.9% alive, 42.6% died (cause known for 95%) and 1.5% lost to follow-up. Asbestos exposure was estimated at the plant and period levels. Asbestos related mortality was significantly increased. All industrial sectors showed increased mortality from pleural malignancies, and most als

Phagocytosis is the main CR3-mediated function affected by the lupus-associated variant of CD11b in human myeloid cells.

The CD11b/CD18 integrin (complement receptor 3, CR3) is a surface receptor on monocytes, neutrophils, macrophages and dendritic cells that plays a crucial role in several immunological processes including leukocyte extravasation and phagocytosis. The minor allele of a non-synonymous CR3 polymorphism (rs1143679, conversation of arginine to histidine at position 77: R77H) represents one of the strongest genetic risk factor in human systemic lupus erythematosus, with heterozygosity (77R/H) being the most common disease associated genotype. Homozygosity for the 77H allele has been reported to reduce adhesion and phagocytosis in human monocytes and monocyte-derived macrophages, respectively, without affecting surface expression of CD11b. Herein we comprehensively assessed the influence of R77H on different CR3-mediated activities in monocytes, neutrophils, macrophages and dendritic cells. R77H did not alter surface expression of CD11b including its active form in any of these cell types. Using two different iC3b-coated targets we found that the uptake by heterozygous 77R/H macrophages, monocytes and neutrophils was significantly reduced compared to 77R/R cells. Allele-specific transduced immortalized macrophage cell lines demonstrated that the minor allele, 77H, was responsible for the impaired phagocytosis. R77H did not affect neutrophil adhesion, neutrophil transmigration in vivo or Toll-like receptor 7/8-mediated cytokine release by monocytes or dendritic cells with or without CR3 pre-engagement by iC3b-coated targets. Our findings demonstrate that the reduction in CR3-mediated phagocytosis associated with the 77H CD11b variant is not macrophage-restricted but demonstrable in other CR3-expressing professional phagocytic cells. The association between 77H and susceptibility to systemic lupus erythematosus most likely relates to impaired waste disposal, a key component of lupus pathogenesis

A Systematic Study of Mid-Infrared Emission from Core-Collapse Supernovae with Spirits

The American Astronomical Society. All rights reserved.We present a systematic study of mid-infrared emission from 141 nearby supernovae (SNe) observed with Spitzer/IRAC as part of the ongoing SPIRITS survey. We detect 8 Type Ia and 36 core-collapse SNe. All Type Ia/Ibc SNe become undetectable within three years of explosion, whereas 22 ± 11% of Type II SNe continue to be detected. Five Type II SNe are detected even two decades after discovery (SN 1974E, 1979C, 1980K, 1986J, and 1993J). Warm dust luminosity, temperature, and a lower limit on mass are obtained by fitting the two IRAC bands, assuming an optically thin dust shell. We derive warm dust masses between 10-6 and 10-2 M o and dust color temperatures between 200 and 1280 K. This observed warm dust could be pre-existing or newly created, but in either case represents a lower limit to the dust mass because cooler dust may be present. We present three case studies of extreme SNe. SN 2011ja (II-P) was over-luminous ([4.5] = -15.6 mag) at 900 days post explosion with increasing hot dust mass, suggesting either an episode of dust formation or intensifying circumstellar material (CSM) interactions heating up pre-existing dust. SN 2014bi (II-P) showed a factor of 10 decrease in dust mass over one month, suggesting either dust destruction or reduced dust heating. The IR luminosity of SN 2014C (Ib) stayed constant over 800 days, possibly due to strong CSM interaction with an H-rich shell, which is rare among stripped-envelope SNe. The observations suggest that this CSM shell originated from an LBV-like eruption roughly 100 years pre-explosion. The observed diversity demonstrates the power of mid-IR observations of a large sample of SNe. © 2017

Exposure to secondhand and thirdhand smoke in private vehicles : Measurements in air and dust samples

This study aimed to estimate airborne nicotine concentrations and nicotine, cotinine, and tobacco-specific nitrosamines (TSNAs) in settled dust from private cars in Spain and the UK. We measured vapor-phase nicotine concentrations in a convenience sample of 45 private cars from Spain (N = 30) and the UK (N = 15) in 2017-2018. We recruited non-smoking drivers (n = 20), smoking drivers who do not smoke inside the car (n = 15), and smoking drivers who smoke inside (n = 10). Nicotine, cotinine, and three TSNAs (NNK, NNN, NNA) were also measured in settled dust in a random subsample (n = 20). We computed medians and interquartile ranges (IQR) of secondhand smoke (SHS) and thirdhand smoke (THS) compounds according to the drivers' profile. 24-h samples yielded median airborne nicotine concentrations below the limit of quantification (LOQ) (IQR: <LOQ - <LOQ) in non-smokers' cars, 0.23 μg/m (IQR:0.18-0.45) in cars of smokers not smoking inside, and 3.53 μg/m, (IQR:1.74-6.38) in cars of smokers smoking inside (p < 0.001). Nicotine concentrations measured only while travelling increased to 21.44 μg/m (IQR:6.60-86.15) in cars of smokers smoking inside. THS concentrations were higher in all cars of smokers, and specially in cars of drivers smoking inside (nicotine: 38.9 μg/g (IQR:19.3-105.7); NNK: 28.5 ng/g (IQR:26.6-70.2); NNN: 23.7 ng/g (IQR:14.3-55.3)), THS concentrations being up to six times those in non-smokers' cars. All cars of smokers had measurable SHS and THS pollution, the exposure levels markedly higher in vehicles of drivers where smoking took place. Our results evidence the need for policies to prohibit smoking in vehicles, but also urge for more comprehensive strategies aiming towards the elimination of tobacco consumption