1,827 research outputs found

    Prospection and identification of traditional-heritage Peruvian grapevine cultivars (Vitis vinifera L.) from Ica and Cañete valleys

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    Interest in ancient and autochthonous cultivars has increased in recent years since they are directly related to the historical and cultural values of a region. Ica and Cañete valleys (Peru) have a long history of grapevine cultivation and the aim of this study was to identify phenotypes corresponding to the most used varieties for the local production of Pisco and wine. The 29 samples were collected in 17 vineyards in the Ica and Cañete valleys, and were analyzed using 20 molecular markers and 5 morphological descriptors according to the OIV. Results showed that the 29 collected samples corresponded to 11 genotypes: seven traditional cultivars and four unknown genotypes not registered previously. The known cultivars were 'Muscat of Alexandria', 'Listán Prieto', 'Quebranta', 'Moscatel Rosado', 'Pedro Giménez', 'Muscat Hamburg' and 'Palomino Fino'. The four not registered genotypes are locally known as 'Mollar de Ica', 'Moscatel Rosada de Cañete', 'Prieta Mollar' and 'Torontel'. All of them correspond to offspring of traditional-heritage Peruvian cultivars. We also found a phenotypic variation of 'Listán Prieto' with muscat flavor and identified phenotypic berry color variations in 'Quebranta'. This study increases the knowledge of traditional Peruvian grape varieties and highlight the genetic variability preserved in the traditional vineyards of local producers

    Lifetime prevalence, age of risk, and genetic relationships of comorbid psychiatric disorders in Tourette syndrome

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    IMPORTANCE: Tourette syndrome (TS) is characterized by high rates of psychiatric comorbidity; however, few studies have fully characterized these comorbidities. Furthermore, most studies have included relatively few participants

    Lifetime Prevalence, Age of Risk, and Etiology of Comorbid Psychiatric Disorders in Tourette Syndrome

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    IMPORTANCE: Tourette syndrome (TS) is characterized by high rates of psychiatric comorbidity; however, few studies have fully characterized these comorbidities. Furthermore, most studies have included relatively few participants (<200), and none has examined the ages of highest risk for each TS-associated comorbidity or their etiologic relationship to TS. OBJECTIVE: To characterize the lifetime prevalence, clinical associations, ages of highest risk, and etiology of psychiatric comorbidity among individuals with TS. DESIGN, SETTING, AND PARTICIPANTS: Cross-sectional structured diagnostic interviews conducted between April 1, 1992, and December 31, 2008, of participants with TS (n = 1374) and TS-unaffected family members (n = 1142). MAIN OUTCOMES AND MEASURES: Lifetime prevalence of comorbid DSM-IV-TR disorders, their heritabilities, ages of maximal risk, and associations with symptom severity, age at onset, and parental psychiatric history. RESULTS: The lifetime prevalence of any psychiatric comorbidity among individuals with TS was 85.7%; 57.7% of the population had 2 or more psychiatric disorders. The mean (SD) number of lifetime comorbid diagnoses was 2.1 (1.6); the mean number was 0.9 (1.3) when obsessive-compulsive disorder (OCD) and attention-deficit/hyperactivity disorder (ADHD) were excluded, and 72.1% of the individuals met the criteria for OCD or ADHD. Other disorders, including mood, anxiety, and disruptive behavior, each occurred in approximately 30% of the participants. The age of greatest risk for the onset of most comorbid psychiatric disorders was between 4 and 10 years, with the exception of eating and substance use disorders, which began in adolescence (interquartile range, 15–19 years for both). Tourette syndrome was associated with increased risk of anxiety (odds ratio [OR], 1.4; 95% CI, 1.0–1.9; P = .04) and decreased risk of substance use disorders (OR, 0.6; 95% CI, 0.3–0.9; P = .02) independent from comorbid OCD and ADHD; however, high rates of mood disorders among participants with TS (29.8%) may be accounted for by comorbid OCD (OR, 3.7; 95% CI, 2.9–4.8; P < .001). Parental history of ADHD was associated with a higher burden of non-OCD, non-ADHD comorbid psychiatric disorders (OR, 1.86; 95% CI, 1.32–2.61; P < .001). Genetic correlations between TS and mood (RhoG, 0.47), anxiety (RhoG, 0.35), and disruptive behavior disorders (RhoG, 0.48), may be accounted for by ADHD and, for mood disorders, by OCD. CONCLUSIONS AND RELEVANCE: This study is, to our knowledge, the most comprehensive of its kind. It confirms the belief that psychiatric comorbidities are common among individuals with TS, demonstrates that most comorbidities begin early in life, and indicates that certain comorbidities may be mediated by the presence of comorbid OCD or ADHD. In addition, genetic analyses suggest that some comorbidities may be more biologically related to OCD and/or ADHD rather than to TS

    Rare Copy Number Variants in \u3cem\u3eNRXN1\u3c/em\u3e and \u3cem\u3eCNTN6\u3c/em\u3e Increase Risk for Tourette Syndrome

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    Tourette syndrome (TS) is a model neuropsychiatric disorder thought to arise from abnormal development and/or maintenance of cortico-striato-thalamo-cortical circuits. TS is highly heritable, but its underlying genetic causes are still elusive, and no genome-wide significant loci have been discovered to date. We analyzed a European ancestry sample of 2,434 TS cases and 4,093 ancestry-matched controls for rare (\u3c 1% frequency) copy-number variants (CNVs) using SNP microarray data. We observed an enrichment of global CNV burden that was prominent for large (\u3e 1 Mb), singleton events (OR = 2.28, 95% CI [1.39–3.79], p = 1.2 × 10−3) and known, pathogenic CNVs (OR = 3.03 [1.85–5.07], p = 1.5 × 10−5). We also identified two individual, genome-wide significant loci, each conferring a substantial increase in TS risk (NRXN1 deletions, OR = 20.3, 95% CI [2.6–156.2]; CNTN6 duplications, OR = 10.1, 95% CI [2.3–45.4]). Approximately 1% of TS cases carry one of these CNVs, indicating that rare structural variation contributes significantly to the genetic architecture of TS

    GC Insights: Lessons from participatory water quality research in the upper Santa River basin, Peru

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    Here we share four key lessons from an inter-disciplinary project (Nuestro Rio) that gathered community perspectives on local water quality in the Santa River basin (Peru) utilising a digital technological approach where we collected data via a novel photo elicitation app, supported by a field work campaign. The lessons explored in this article provide insights into challenges and opportunities for researchers considering developing technological tools for encouraging participation and engagement in marginalised communities

    Shipping emissions in the Iberian Peninsula and the impacts on air quality

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    Marine traffic has been identified as a relevant source of pollutants, which cause known negative effects on air quality. The Iberian Peninsula is a central point in the connection of shipping traffic between the Americas, Africa, and the rest of Europe. To estimate the effects of shipping emissions inland and around the Iberian Peninsula, the EMEP/MSC-W model was run considering and not considering shipping emissions (obtained with STEAM3). Total estimated emissions of CO, CO2, SOx, NOx, and particulate matter (subdivided into elementary carbon - EC, organic carbon - OC, sulfate, and ash) for the study domain in 2015 were respectively 49, 30000, 360, 710, 4.5, 11, 32, and 3.3 kt yr(-1). Shipping emissions increased SO2 and NO2 concentrations, especially near port areas, and also increased the O-3, sulfate, and particulate matter (PM2.5 and PM10) concentrations over the entire Iberian Peninsula coastline (especially in the south coastal region). Shipping emissions were responsible for exceedances of WHO air quality guidelines for PM2.5 in areas far from the coastline, which confirms that shipping emissions can contribute negatively to air quality, both in coastal and inland areas

    Estimating the health and economic burden of shipping related air pollution in the Iberian Peninsula

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    Air pollution is the leading cause of the global burden of disease from the environment, entailing substantial economic consequences. International shipping is a significant source of NOx, SO2, CO and PM, which can cause known negative health impacts. Thus, this study aimed to estimate the health impacts and the associated external costs of ship-related air pollution in the Iberian Peninsula for 2015. Moreover, the impact of CAP2020 regulations on 2015 emissions was studied. Log-linear functions based on WHO-HRAPIE relative risks for PM2.5 and NO2 all-cause mortality and morbidity health end-points, and integrated exposure-response functions for PM2.5 cause-specific mortality, were used to calculate the excess burden of disease. The number of deaths and years of life lost (YLL) due to NO2 ship-related emissions was similar to those of PM2.5 ship-related emissions. Estimated all-cause premature deaths attributable to PM2.5 ship-related emissions represented an average increase of 7.7% for the Iberian Peninsula when compared to the scenario without shipping contribution. Costs of around 9 100 million euro yr-1 (for value of statistical life approach - VSL) and 1 825 million euro yr(-1) (for value of life year approach - VOLY) were estimated for PM and NO2 all-cause burden of disease. For PM2.5 cause-specific mortality, a cost of around 3 475 million euro yr(-1) (for VSL approach) and 851 million euro yr(-1) (for VOLY approach) were estimated. Costs due to PM and NO2 all-cause burden represented around 0.72% and 0.15% of the Iberian Peninsula gross domestic product in 2015, respectively for VSL and VOLY approaches. For PM2.5 cause-specific mortality, costs represented around 0.28% and 0.06%, respectively, for VSL and VOLY approaches. If CAP2020 regulations had been applied in 2015, around 50% and 30% respectively of PM2.5 and NO2 ship-related mortality would been avoided. These results show that air pollution from ships has a considerable impact on health and associated costs affecting the Iberian Peninsula.This work was financially supported by: project UIDB/00511/2020 of the Laboratory for Process Engineering, Environment, Biotechnology and Energy - LEPABE-funded by national funds through the FCT/MCTES (PIDDAC) and project EMISSHIP PTDC/CTAAMB/32201/2017, funded by FEDER funds through COMPETE2020 - Programa Oper-acional Competitividade e Internacionalizacao (POCI) and by national funds (PIDDAC) through FCT/MCTES. Rafael A.O. Nunes thanks the individual research grant SFRH/BD/146159/2019, funded by the Por-tuguese Foundation for Science and Technology (FCT) . Sofia I.V. Sousathanks the Portuguese Foundation for Science and Technology (FCT) for the financial support of her work contract through the Scientific Employment Stimulus-Individual Call CEECIND/02477/2017. Dr Jalkanen would like to acknowledge the financial support from the European Union's Horizon2020 research and innovation programme under grant agreement #874990 (EMERGE project) . This work reflects only the authors' view and INEA is not responsible for any use that may be made of the information it contains
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