50 research outputs found

    Age, Sex and Family Composition of Montezuma Quail (Cyrtonyx montezumae) Coveys in Arizona, New Mexico, and Texas

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    The Montezuma quail (Cyrtonyx montezumae) is a popular game bird in Arizona and New Mexico, USA, but hunting seasons remain closed in Texas, USA. Estimates of age structure parameters and sex ratios in game birds are essential information for predicting population trajectories and developing sustainable harvest and conservation strategies. Montezuma quail form coveys during the winter as a behavioral strategy for improved survival. In this regard, we harvested 1–4 individuals from 112 Montezuma quail coveys in Arizona, New Mexico, and West Texas from 2009 through 2020 to estimate sex and age composition (juvenile vs. adults) of coveys. We also estimated size for all coveys from which we harvested birds. Mean covey size (± standard error) was 9.7 ± 0.7 individuals (range = 6–12), 9.1 ± 0.5 (range = 2–20), and 5.7 ± 0.7 (range = 2–12) for Arizona, New Mexico, and Texas, respectively although covey size decreased through the winter. The proportion of females among harvested birds was 0.33 ± 0.11, 0.40 ± 0.04, and 0.36 ± 0.33 for Arizona, New Mexico, and Texas, respectively. The proportion of juveniles among harvested birds was 0.83 ± 0.09, 0.71 ± 0.04, and 0.52 ± 0.10 for Arizona, New Mexico, and Texas, respectively. Coveys seem to contain more than one family group (paired birds with current progeny). We estimated that at least 6.2 ± 3.0% and 15.4 ± 10.0% of coveys were mixed families for New Mexico and Texas, respectively, as we harvested more than 2 adult males from the same covey. We did not collect same-sex adults from the same covey in Arizona. Our estimates set apart West Texas in lower average covey size and proportion of juveniles from Arizona and New Mexico at the northern edge of the species’ distribution and may reflect a different population dynamic in the region. However, our estimates must be taken with caution as behavioral response differences between sexes and age categories may differ and may not accurately reflect the actual sex, age, and family composition of Montezuma quail coveys. In addition, results may be confounded by variability in environmental factors over our extended sampling period

    Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

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    Genome-wide association studies have generated an increasing number of common genetic variants associated with neurological and psychiatric disease risk. An improved understanding of the genetic control of gene expression in human brain is vital considering this is the likely modus operandum for many causal variants. However, human brain sampling complexities limit the explanatory power of brain-related expression quantitative trait loci (eQTL) and allele-specific expression (ASE) signals. We address this, using paired genomic and transcriptomic data from putamen and substantia nigra from 117 human brains, interrogating regulation at different RNA processing stages and uncovering novel transcripts. We identify disease-relevant regulatory loci, find that splicing eQTLs are enriched for regulatory information of neuron-specific genes, that ASEs provide cell-specific regulatory information with evidence for cellular specificity, and that incomplete annotation of the brain transcriptome limits interpretation of risk loci for neuropsychiatric disease. This resource of regulatory data is accessible through our web server, http://braineacv2.inf.um.es/

    Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

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    Background Genome-wide association studies (GWAS) in Parkinson's disease have increased the scope of biological knowledge about the disease over the past decade. We aimed to use the largest aggregate of GWAS data to identify novel risk loci and gain further insight into the causes of Parkinson's disease. Methods We did a meta-analysis of 17 datasets from Parkinson's disease GWAS available from European ancestry samples to nominate novel loci for disease risk. These datasets incorporated all available data. We then used these data to estimate heritable risk and develop predictive models of this heritability. We also used large gene expression and methylation resources to examine possible functional consequences as well as tissue, cell type, and biological pathway enrichments for the identified risk factors. Additionally, we examined shared genetic risk between Parkinson's disease and other phenotypes of interest via genetic correlations followed by Mendelian randomisation. Findings Between Oct 1, 2017, and Aug 9, 2018, we analysed 7·8 million single nucleotide polymorphisms in 37 688 cases, 18 618 UK Biobank proxy-cases (ie, individuals who do not have Parkinson's disease but have a first degree relative that does), and 1·4 million controls. We identified 90 independent genome-wide significant risk signals across 78 genomic regions, including 38 novel independent risk signals in 37 loci. These 90 variants explained 16–36% of the heritable risk of Parkinson's disease depending on prevalence. Integrating methylation and expression data within a Mendelian randomisation framework identified putatively associated genes at 70 risk signals underlying GWAS loci for follow-up functional studies. Tissue-specific expression enrichment analyses suggested Parkinson's disease loci were heavily brain-enriched, with specific neuronal cell types being implicated from single cell data. We found significant genetic correlations with brain volumes (false discovery rate-adjusted p=0·0035 for intracranial volume, p=0·024 for putamen volume), smoking status (p=0·024), and educational attainment (p=0·038). Mendelian randomisation between cognitive performance and Parkinson's disease risk showed a robust association (p=8·00 × 10−7). Interpretation These data provide the most comprehensive survey of genetic risk within Parkinson's disease to date, to the best of our knowledge, by revealing many additional Parkinson's disease risk loci, providing a biological context for these risk factors, and showing that a considerable genetic component of this disease remains unidentified. These associations derived from European ancestry datasets will need to be followed-up with more diverse data. Funding The National Institute on Aging at the National Institutes of Health (USA), The Michael J Fox Foundation, and The Parkinson's Foundation (see appendix for full list of funding sources)

    Omecamtiv mecarbil in chronic heart failure with reduced ejection fraction, GALACTIC‐HF: baseline characteristics and comparison with contemporary clinical trials

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    Aims: The safety and efficacy of the novel selective cardiac myosin activator, omecamtiv mecarbil, in patients with heart failure with reduced ejection fraction (HFrEF) is tested in the Global Approach to Lowering Adverse Cardiac outcomes Through Improving Contractility in Heart Failure (GALACTIC‐HF) trial. Here we describe the baseline characteristics of participants in GALACTIC‐HF and how these compare with other contemporary trials. Methods and Results: Adults with established HFrEF, New York Heart Association functional class (NYHA) ≄ II, EF ≀35%, elevated natriuretic peptides and either current hospitalization for HF or history of hospitalization/ emergency department visit for HF within a year were randomized to either placebo or omecamtiv mecarbil (pharmacokinetic‐guided dosing: 25, 37.5 or 50 mg bid). 8256 patients [male (79%), non‐white (22%), mean age 65 years] were enrolled with a mean EF 27%, ischemic etiology in 54%, NYHA II 53% and III/IV 47%, and median NT‐proBNP 1971 pg/mL. HF therapies at baseline were among the most effectively employed in contemporary HF trials. GALACTIC‐HF randomized patients representative of recent HF registries and trials with substantial numbers of patients also having characteristics understudied in previous trials including more from North America (n = 1386), enrolled as inpatients (n = 2084), systolic blood pressure < 100 mmHg (n = 1127), estimated glomerular filtration rate < 30 mL/min/1.73 m2 (n = 528), and treated with sacubitril‐valsartan at baseline (n = 1594). Conclusions: GALACTIC‐HF enrolled a well‐treated, high‐risk population from both inpatient and outpatient settings, which will provide a definitive evaluation of the efficacy and safety of this novel therapy, as well as informing its potential future implementation

    COVID-19 symptoms at hospital admission vary with age and sex: results from the ISARIC prospective multinational observational study

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    Background: The ISARIC prospective multinational observational study is the largest cohort of hospitalized patients with COVID-19. We present relationships of age, sex, and nationality to presenting symptoms. Methods: International, prospective observational study of 60 109 hospitalized symptomatic patients with laboratory-confirmed COVID-19 recruited from 43 countries between 30 January and 3 August 2020. Logistic regression was performed to evaluate relationships of age and sex to published COVID-19 case definitions and the most commonly reported symptoms. Results: ‘Typical’ symptoms of fever (69%), cough (68%) and shortness of breath (66%) were the most commonly reported. 92% of patients experienced at least one of these. Prevalence of typical symptoms was greatest in 30- to 60-year-olds (respectively 80, 79, 69%; at least one 95%). They were reported less frequently in children (≀ 18 years: 69, 48, 23; 85%), older adults (≄ 70 years: 61, 62, 65; 90%), and women (66, 66, 64; 90%; vs. men 71, 70, 67; 93%, each P < 0.001). The most common atypical presentations under 60 years of age were nausea and vomiting and abdominal pain, and over 60 years was confusion. Regression models showed significant differences in symptoms with sex, age and country. Interpretation: This international collaboration has allowed us to report reliable symptom data from the largest cohort of patients admitted to hospital with COVID-19. Adults over 60 and children admitted to hospital with COVID-19 are less likely to present with typical symptoms. Nausea and vomiting are common atypical presentations under 30 years. Confusion is a frequent atypical presentation of COVID-19 in adults over 60 years. Women are less likely to experience typical symptoms than men

    Recruitment of catarina scallop Argopecten ventricosus larvae on artificial collectors off the NE coast of the Gulf of California

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    We evaluated recruitment of larvae of catarina scallop, Argopecten ventricosus, in the area of Puerto Peñasco, NE Gulf of California. We moored artificial collectors in 6 sites from June 2007 to August 2008 and replaced them every 2 months. We used monthly (July 2002-September 2011) sea surface temperature (SST, oC) and surface chlorophyll-a concentration (SSChl, mg m-3) Aqua/MODIS satellite data to describe seasonal environmental behavior study area. Also, we recorded bottom temperature at each site every 4 hours, and every two months measured sea surface salinity, temperature, and dissolved oxygen. We used a repeated measures ANOVA to evaluate differences in the number of recruited spat between main factors, and analyzed the presence of multimodal spat shell size frequency distributions. Overall, spat recruitment was negatively correlated with seawater temperature and showed higher spat recruitment abundances throughout winter, which is the season with the highest surface chlorophyll a concentration. We estimated multimodal shell size frequency distributions characterized by more than one modal size. The natural collection of A. ventricosus spat on artificial collectors in the area can be successfully performed over a protracted period (November-December to May-June). Our results extend the area where collection of A. ventricosus spat can be successful.Fil: Soria, Rodrigo Gaspar. University Of Arizona; Estados Unidos. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Nacional Patagónico; ArgentinaFil: Lavin, Miguel F.. Centro de Investigación Científica y de Educación Superior de Ensenada. Departamento de Oceanografía Física; MéxicoFil: Martínez Tovar, Ivan. Centro Intercultural de Estudios de Desiertos y Oceanos; MéxicoFil: Macias Duarte, Alberto. University Of Arizona; Estados Unido
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