129 research outputs found

    Air pollution and related respiratory diseases: the experience of a Local Health Authority in Liguria (North Italy)

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    Background. Numerous epidemiological studies have shown that air pollution due to both industry and heavy traffic has short- and long-term effects on health. The study was carried out in an industrial area with heavy urban and motorway traffic in the Province of Genoa (Italy). Methods. The study was carried out from June 2005 to July 2008. An epidemiologic study was conducted by monitoring an elementary/ middle school situated in an area of recent industrial development and an elementary/middle school located in an area free from sources of industrial pollution. Furthermore, we conducted an investigation of workers in commercial premises situated in one area of heavy vehicular traffic. In the study areas, environmental monitoring campaigns were carried out in order to determine the association between indoor and outdoor pollution and respiratory disorders. Results and discussion. The study did not bring to light any specific health problems attributable with certainty to industrial emissions. The impact of pollution caused by motor traffic proved to be greater than that due to industrial emissions. More exhaustive sampling campaigns should be implemented in order to quantify the effects of specific sources of emissions and to correlate these sources with pollutants (industry, urban traffic, motorway traffic)

    Overcoming the dichotomy between open and isolated populations using genomic data from a large European dataset

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    Human populations are often dichotomized into "isolated" and "open" categories using cultural and/or geographical barriers to gene flow as differential criteria. Although widespread, the use of these alternative categories could obscure further heterogeneity due to inter-population differences in effective size, growth rate, and timing or amount of gene flow. We compared intra and inter-population variation measures combining novel and literature data relative to 87,818 autosomal SNPs in 14 open populations and 10 geographic and/or linguistic European isolates. Patterns of intra-population diversity were found to vary considerably more among isolates, probably due to differential levels of drift and inbreeding. The relatively large effective size estimated for some population isolates challenges the generalized view that they originate from small founding groups. Principal component scores based on measures of intra-population variation of isolated and open populations were found to be distributed along a continuum, with an area of intersection between the two groups. Patterns of inter-population diversity were even closer, as we were able to detect some differences between population groups only for a few multidimensional scaling dimensions. Therefore, different lines of evidence suggest that dichotomizing human populations into open and isolated groups fails to capture the actual relations among their genomic features

    Association between polymorphisms of TAS2R16 and susceptibility to colorectal cancer

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    Background: Genetics plays an important role in the susceptibility to sporadic colorectal cancer (CRC). In the last 10 years genome-wide association studies (GWAS) have identified over 40 independent low penetrance polymorphic variants. However, these loci only explain around 1‑4% of CRC heritability, highlighting the dire need of identifying novel risk loci. In this study, we focused our attention on the genetic variability of the TAS2R16 gene, encoding for one of the bitter taste receptors that selectively binds to salicin, a natural antipyretic that resembles aspirin. Given the importance of inflammation in CRC, we tested whether polymorphic variants in this gene could affect the risk of developing this neoplasia hypothesizing a role of TAS2R16 in modulating chronic inflammation within the gut. Methods: We performed an association study using 6 tagging SNPs, (rs860170, rs978739, rs1357949, rs1525489, rs6466849, rs10268496) that cover all TAS2R16 genetic variability. The study was carried out on 1902 CRC cases and 1532 control individuals from four European countries. Results: We did not find any statistically significant association between risk of developing CRC and selected SNPs. However, after stratification by histology (colon vs. rectum) we found that rs1525489 was associated with increased risk of rectal cancer with a (Ptrend of = 0.0071). Conclusions: Our data suggest that polymorphisms within TAS2R16 gene do not have a strong influence on colon cancer susceptibility, but a possible role in rectal cancer should be further evaluated in larger cohorts

    Psychophysical assessment of olfactory and gustatory function in post-mild COVID-19 patients: A matched case-control study with two-year follow-up

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    Background: The aim of this study was to psychophysically evaluate the prevalence of smell and taste dysfunction two years after mildly symptomatic SARS-CoV-2 infection compared to that observed at one-year follow-up and while considering the background of chemosensory dysfunction in the no-COVID-19 population. Method: This is a prospective case-control study 93 patients with PCR-positive SARS-CoV-2 infection and 93 matched controls. Self-reported olfactory and gustatory dysfunction was assessed by Sino-nasal-Outcome-Test-22, item "Sense of smell or taste". Psychophysical ortho- and retronasal olfactory function and gustatory performance were estimated using the extended Sniffin' Sticks test battery, 20 powdered tasteless aromas, and taste strips test, respectively. Nasal trigeminal sensitivity was assessed by sniffing a 70% solution of acetic acid. Results: The two psychophysical assessments of chemosensory function took place after a median of 409 days (range: 366-461) and 765 days (range: 739-800) from the first SARS-CoV-2 positive swab, respectively. At two-year follow-up, cases exhibited a decrease in the prevalence of olfactory (27.9%% vs 42.0%; absolute difference, -14.0%; 95% CI, -21.8% to -2.6%; p = 0.016) and gustatory dysfunction (14.0% vs 25.8%; absolute difference, -11.8%; 95% CI, -24.2% to 0.6%; p = 0.098). Subjects with prior COVID-19 were more likely than controls to have an olfactory (27.9% vs 10.8 %; absolute difference, 17.2%; 95% CI, 5.2% to 28.8%) but not gustatory dysfunction (14.0% vs 9.7%; absolute difference, 4.3%; 95% CI, -5.8% to 14.4% p = 0.496) still two years after the infection. Overall, 3.2% of cases were still anosmic two-year after the infection. Conclusions: While a proportion of subjects recovered from long-lasting smell/taste dysfunction more than one year after COVID-19, cases still exhibited a significant excess of olfactory dysfunction two years after SARS-CoV-2 infection when compared to matched controls

    Prognostic Significance of CD4+ and CD8+ Tumor-Infiltrating Lymphocytes in Head and Neck Squamous Cell Carcinoma: A Meta-Analysis.

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    OBJECTIVE: It has been suggested that the presence of tumor-infiltrating lymphocytes (TILs) in the tumor microenvironment is associated with a better prognosis in different types of cancer. In this systematic review and meta-analysis, we investigated the prognostic role of CD4+ and CD8+ TILs in head and neck squamous cell carcinoma (HNSCC). METHODS: PubMed, Cochrane, Embase, Scopus, and Web of Science were searched up to September 2020. This study was conducted following the preferred reporting items for systematic reviews and meta-analyses (PRISMA) checklist. Risk ratios from individual studies were displayed in forest plots and the pooled hazard ratios (HR) of death and corresponding confidence intervals (CI) were calculated according to random-effects models. Risk of bias of the included studies was assessed through the Newcastle-Ottawa scale. RESULTS: 28 studies met the inclusion criteria. Studies conducted on HNSCC subsites combined reported a significant reduction in the risk of death for both high CD4+ (HR: 0.77; 95% CI: 0.65-0.93) and high CD8+ TILs (HR: 0.64; 95% CI: 0.47-0.88). High CD4+ TILs were associated with significantly better overall survival among oropharyngeal HNSCC (HR: 0.52; 95% CI: 0.31-0.89), as well as high CD8+ TILS in Human papillomavirus -ve and +ve cancers (HR: 0.39; 95% CI: 0.16-0.93 and HR: 0.40; 95% CI 0.21-0.76 respectively). CD8+ TILs were also associated with improved survival in hypopharyngeal cancers (HR = 0.43 CI: 0.30-0.63). No significant association emerged for patients with cancer of the oral cavity or larynx. CONCLUSIONS: The findings from this meta-analysis demonstrate the prognostic significance of CD8+ and CD4+ TILs in HNSCC and variation in tumor subsite warrants further focused investigation. We highlight how TILs may serve as predictive biomarkers to risk stratify patients into treatment groups, with applications in immune-checkpoint inhibitors notable areas for further research

    The role of recent admixture in forming the contemporary West Eurasian genomic landscape

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    Over the past few years, studies of DNA isolated from human fossils and archaeological remains have generated considerable novel insight into the history of our species. Several landmark papers have described the genomes of ancient humans across West Eurasia, demonstrating the presence of large-scale, dynamic population movements over the last 10,000 years, such that ancestry across present-day populations is likely to be a mixture of several ancient groups [1-7]. While these efforts are bringing the details of West Eurasian prehistory into increasing focus, studies aimed at understanding the processes behind the generation of the current West Eurasian genetic landscape have been limited by the number of populations sampled or have been either too regional or global in their outlook [8-11]. Here, using recently described haplotype-based techniques [11], we present the results of a systematic survey of recent admixture history across Western Eurasia and show that admixture is a universal property across almost all groups. Admixture in all regions except North Western Europe involved the influx of genetic material from outside of West Eurasia, which we date to specific time periods. Within Northern, Western, and Central Europe, admixture tended to occur between local groups during the period 300 to 1200 CE. Comparisons of the genetic profiles of West Eurasians before and after admixture show that population movements within the last 1,500 years are likely to have maintained differentiation among groups. Our analysis provides a timeline of the gene flow events that have generated the contemporary genetic landscape of West Eurasia

    Geographic population structure analysis of worldwide human populations infers their biogeographical origins

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    The search for a method that utilizes biological information to predict humans’ place of origin has occupied scientists for millennia. Over the past four decades, scientists have employed genetic data in an effort to achieve this goal but with limited success. While biogeographical algorithms using next-generation sequencing data have achieved an accuracy of 700 km in Europe, they were inaccurate elsewhere. Here we describe the Geographic Population Structure (GPS) algorithm and demonstrate its accuracy with three data sets using 40,000–130,000 SNPs. GPS placed 83% of worldwide individuals in their country of origin. Applied to over 200 Sardinians villagers, GPS placed a quarter of them in their villages and most of the rest within 50 km of their villages. GPS’s accuracy and power to infer the biogeography of worldwide individuals down to their country or, in some cases, village, of origin, underscores the promise of admixture-based methods for biogeography and has ramifications for genetic ancestry testing
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