1,151 research outputs found

    USING CALLING ACTIVITY TO PREDICT CALLING ACTIVITY: A CASE STUDY WITH THE ENDANGERED HOUSTON TOAD (BUFO [ANAXYRUS] HOUSTONENSIS)

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    Understanding anuran calling activity patterns is important for maximizing efficiency and value of call survey data collection and analyses. Previous studies have primarily focused on identifying and quantifying abiotic variables that influence anuran calling activity, and investigating relationships between calling activity and population estimates. In this study we investigated the use of a predictor pond approach to guide call survey effort. In this approach, calling activity at a subset of breeding sites (e.g., ponds) is used as a predictor of calling activity at additional breeding sites, with the goal being to minimize sampling effort while simultaneously maximizing sampling efficiency. We explored the efficiency of this approach using call survey data collected on the endangered Houston Toad (Bufo [Anaxyrus] houstonensis) at 15 known breeding ponds over 9 survey years. We found that if calling activity at 3 predictor ponds was used to decide if additional call surveys would occur at the remaining 12 ponds, we would have hypothetically correctly assumed calling activity was not occurring at non-predictor ponds on 92.1% of survey nights, and we would have hypothetically detected 93.9% of the total number of detected individuals over the 9 survey years. We found the predictor pond approach performed well in our case study, and believe it could be a valuable tool for many anuran monitoring programs

    Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas

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    Background and aims: We tested the hypothesis that the actual or predicted consequences of mutations in the cystic fibrosis transmembrane regulator gene correlate with the pancreatic phenotype and with measures of quantitative exocrine pancreatic function. Methods: We assessed 742 patients with cystic fibrosis for whom genotype and clinical data were available. At diagnosis, 610 were pancreatic insufficient, 110 were pancreatic sufficient, and 22 pancreatic sufficient patients progressed to pancreatic insufficiency after diagnosis. Results: We identified mutations on both alleles in 633 patients (85.3%), on one allele in 95 (12.8%), and on neither allele in 14 (1.9%). Seventy six different mutations were identified. The most common mutation was ΔF508 (71.3%) followed by G551D (2.9%), G542X (2.3%), 621+1G→T (1.2%), and W1282X (1.2%). Patients were categorized into five classes according to the predicted functional consequences of each mutation. Over 95% of patients with severe class I, II, and III mutations were pancreatic insufficient or progressed to pancreatic insufficiency. In contrast, patients with mild class IV and V mutations were consistently pancreatic sufficient. In all but four cases each genotype correlated exclusively with the pancreatic phenotype. Quantitative data of acinar and ductular secretion were available in 93 patients. Patients with mutations belonging to classes I, II, and III had greatly reduced acinar and ductular function compared with those with class IV or V mutations. Conclusion: The predicted or known functional consequences of specific mutant alleles correlate with the severity of pancreatic disease in cystic fibrosis.published_or_final_versio

    Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia

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    Borderline personality disorder (BOR) is determined by environmental and genetic factors, and characterized by affective instability and impulsivity, diagnostic symptoms also observed in manic phases of bipolar disorder (BIP). Up to 20% of BIP patients show comorbidity with BOR. This report describes the first case–control genome-wide association study (GWAS) of BOR, performed in one of the largest BOR patient samples worldwide. The focus of our analysis was (i) to detect genes and gene sets involved in BOR and (ii) to investigate the genetic overlap with BIP. As there is considerable genetic overlap between BIP, major depression (MDD) and schizophrenia (SCZ) and a high comorbidity of BOR and MDD, we also analyzed the genetic overlap of BOR with SCZ and MDD. GWAS, gene-based tests and gene-set analyses were performed in 998 BOR patients and 1545 controls. Linkage disequilibrium score regression was used to detect the genetic overlap between BOR and these disorders. Single marker analysis revealed no significant association after correction for multiple testing. Gene-based analysis yielded two significant genes: DPYD (P=4.42 × 10−7) and PKP4 (P=8.67 × 10−7); and gene-set analysis yielded a significant finding for exocytosis (GO:0006887, PFDR=0.019; FDR, false discovery rate). Prior studies have implicated DPYD, PKP4 and exocytosis in BIP and SCZ. The most notable finding of the present study was the genetic overlap of BOR with BIP (rg=0.28 [P=2.99 × 10−3]), SCZ (rg=0.34 [P=4.37 × 10−5]) and MDD (rg=0.57 [P=1.04 × 10−3]). We believe our study is the first to demonstrate that BOR overlaps with BIP, MDD and SCZ on the genetic level. Whether this is confined to transdiagnostic clinical symptoms should be examined in future studies

    Encontro casual na região central do Texas fornece informações sobre a ecologia da estivação de Siren nettingi (Caudata: Sirenidae)

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    Siren spp. costumam ser vertebrados dominantes nas áreas úmidas que ocupam e são conhecidas por estivar quando essas áreas úmidas secam. Considerações práticas limitam as observações in situ de indivíduos em estivação. Em 12 de outubro de 2021, descobrimos por acaso um agregado em estivação de Siren nettingi no condado de Bastrop, Texas, Estados Unidos. Essas salamandras foram escavadas em solo compacto e rochoso adjacente a uma estrada de caliche, em profundidades que variavam entre ~0,2 e 1,5 m. A vegetação dominante nesse local incluía Ulmus crassifolia, Persicaria sp. e várias espécies de gramíneas. Recuperamos 140 indivíduos, dos quais sete foram resgatados e 133 foram capturados vivos. Medimos 115 deles quanto ao comprimento rostro-cloacal (SVL) e observamos que o agregado era dominado por jovens. Estimamos uma densidade de estivação de 2,33 indivíduos/m2 que é comparável às densidades estimadas para populações sem estivação. No entanto, como não houve monitoramento para esse estudo, provavelmente tenha ocorrido um evento de mortalidade em massa. Portanto, sugerimos que a construção de estradas no habitat preferido seja considerada uma ameaça às populações dessas salamandras.Siren spp. are often dominant vertebrates in the wetlands they occupy and are known to estivate when such wetlands dry up. Practical considerationslimit in-situ observations of estivating individuals. On 12 October 2021, we incidentally discovered an estivating aggregate of Siren nettingi in Bastrop County, Texas, USA. These salamanders were excavated from compact, rocky soil adjacent to a caliche road, at depths that ranged between ~0.2 to 1.5 m. The dominant vegetation at this site included Ulmus crassifolia, Persicaria sp., and various grass species. We recovered 140 individuals of which seven were salvaged and 133 were captured live. We measured 115 of these for snout–vent length (SVL) and observed the aggregate was predominated by juveniles. We estimated an estivation density of 2.33 sirens/m2 that is comparable to densities estimated for non-estivating populations. However, in-lieu of monitoring that was in place for this study, we expect a mass mortality event would have likely occurred. We therefore suggest that roadway construction in preferred habitat be considered as a threat to siren populations
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