231 research outputs found

    The influence of pair duration on reproductive success in the monogamous ‘Alalā (Hawaiian crow, Corvus hawaiiensis)

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    Conservation breeding program practitioners select potential mates in an attempt to maximize pair compatibility and maintain genetic diversity. Therefore, pair duration, or the number of breeding seasons that individuals retain the same mate, is practitioner-determined in these settings. There is a critical need to evaluate whether pair duration influences reproductive success in ex situ assurance populations, particularly for socially monogamous species. The ‘Alalā (Hawaiian crow, Corvus hawaiiensis) is a monogamous forest bird that is currently extinct in the wild. Today, ‘Alalā exist only in human care for intensive conservation breeding. We analyzed breeding program data from 2018-2021 to determine the effects of ‘Alalā pair duration and age on reproduction (nest building, egg laying, hatching, and fledging). We found that pair duration does not influence reproductive outcomes, and thus practitioners can be more proactive when re-pairing birds. Female and male age, on the other hand, influenced the probability of nest building, clutch production, and overall reproductive success. Nest building and clutch production probabilities were high (near 1) and stable as females aged from 2 to ~ 12 years old, declining sharply thereafter. In males, overall reproductive success (from building robust nests to rearing at least one nestling to fledge) increased with age from 2 to ~ 9 years old, peaked and reached an asymptote with males ≳ 9 to ~ 13 years old, and decreased in males ≳ 13 years old. Thus, integrating age into the pair selection process will increase the likelihood of achieving conservation goals. To our knowledge, we are the first to utilize empirical pair duration results to provide specific management recommendations for mate selection in an avian conservation breeding program. Our findings have critical utility for guiding ‘Alalā pairing decisions, and more broadly underscore the importance of evaluating mate retention and selection protocols in other conservation breeding programs

    Description of normal pulmonary radiographic findings in 55 apparently healthy juvenile Kemp's ridley sea turtles (Lepidochelys kempii)

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    A total of 55 digital radiographic studies from 53 individual juvenile Kemp's ridley sea turtles (Lepidochelys kempii) were retrospectively used to determine the normal radiographic anatomy of the lower respiratory tract in sea turtles that had been stranded due to hook-and-line injury and were otherwise clinically healthy. There were three or four projections available for each study: dorsoventral (DV), rostrocaudal (RoCd), and left and/or right lateral. The DV and RoCd were most conducive for assessing global lung volume and symmetry of lung volume. The DV and lateral views were most helpful for evaluating the main bronchus and its branching channels and for assessing lung margination. The RoCd view was most useful for assessing the symmetry of the lung opacity. The lateral views were most helpful for assessing the ventral margin of each lung lobe. On the lateral view, the main bronchus lay ventrally and coursed horizontally through the lung from cranial to caudal. On the DV view, the bronchus lay medially and was observed to be curvilinear coursing caudomedially. On the RoCd view, the main bronchus was located ventromedially. The RoCd view demonstrated the channels and niches end-on resulting in a reticulated or honeycomb appearance. The channels were seen as uniform striations coursing perpendicular to the main bronchus on the lateral views (vertical striations coursing dorsal to ventral) and DV views (horizontal striations coursing medially to laterally)

    The Lantern Vol. 48, No. 1, December 1981

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    • While Sipping Scotch and Soda • I Remember • The Apology • Growing • It Seems Like Time Has Stood Still • Zimmerman Encounters Pessimism • Deliverer • Genus Sublime • Yours, Still • The Rising Sun • Person, Valley, Things • It Lay Motionless • Les Parques • Opportunity • The Park - I, II • Another Dimension • Grand Mal • Moments Later • Look Into A Pond • Trust and Dependency • From Foundlings • Drought • Girl at Fence • Campus • Clocking Time • A Letter From Clarence • When Flat Lines • Every Now and Then • Loneliness • Emotion No. 2 • You\u27re Walking • Battle Cries • The Ultimate Feudal Lord • Monologue From A Farther Roomhttps://digitalcommons.ursinus.edu/lantern/1119/thumbnail.jp

    Associations with photoreceptor thickness measures in the UK Biobank.

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    Spectral-domain OCT (SD-OCT) provides high resolution images enabling identification of individual retinal layers. We included 32,923 participants aged 40-69 years old from UK Biobank. Questionnaires, physical examination, and eye examination including SD-OCT imaging were performed. SD OCT measured photoreceptor layer thickness includes photoreceptor layer thickness: inner nuclear layer-retinal pigment epithelium (INL-RPE) and the specific sublayers of the photoreceptor: inner nuclear layer-external limiting membrane (INL-ELM); external limiting membrane-inner segment outer segment (ELM-ISOS); and inner segment outer segment-retinal pigment epithelium (ISOS-RPE). In multivariate regression models, the total average INL-RPE was observed to be thinner in older aged, females, Black ethnicity, smokers, participants with higher systolic blood pressure, more negative refractive error, lower IOPcc and lower corneal hysteresis. The overall INL-ELM, ELM-ISOS and ISOS-RPE thickness was significantly associated with sex and race. Total average of INL-ELM thickness was additionally associated with age and refractive error, while ELM-ISOS was additionally associated with age, smoking status, SBP and refractive error; and ISOS-RPE was additionally associated with smoking status, IOPcc and corneal hysteresis. Hence, we found novel associations of ethnicity, smoking, systolic blood pressure, refraction, IOPcc and corneal hysteresis with photoreceptor thickness

    In search of causal variants: refining disease association signals using cross-population contrasts

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    <p>Abstract</p> <p>Background</p> <p>Genome-wide association (GWA) using large numbers of single nucleotide polymorphisms (SNPs) is now a powerful, state-of-the-art approach to mapping human disease genes. When a GWA study detects association between a SNP and the disease, this signal usually represents association with a set of several highly correlated SNPs in strong linkage disequilibrium. The challenge we address is to distinguish among these correlated loci to highlight potential functional variants and prioritize them for follow-up.</p> <p>Results</p> <p>We implemented a systematic method for testing association across diverse population samples having differing histories and LD patterns, using a logistic regression framework. The hypothesis is that important underlying biological mechanisms are shared across human populations, and we can filter correlated variants by testing for heterogeneity of genetic effects in different population samples. This approach formalizes the descriptive comparison of p-values that has typified similar cross-population fine-mapping studies to date. We applied this method to correlated SNPs in the cholinergic nicotinic receptor gene cluster <it>CHRNA5-CHRNA3-CHRNB4</it>, in a case-control study of cocaine dependence composed of 504 European-American and 583 African-American samples. Of the 10 SNPs genotyped in the r<sup>2 </sup>≥ 0.8 bin for <it>rs16969968</it>, three demonstrated significant cross-population heterogeneity and are filtered from priority follow-up; the remaining SNPs include <it>rs16969968 </it>(heterogeneity p = 0.75). Though the power to filter out rs16969968 is reduced due to the difference in allele frequency in the two groups, the results nevertheless focus attention on a smaller group of SNPs that includes the non-synonymous SNP rs16969968, which retains a similar effect size (odds ratio) across both population samples.</p> <p>Conclusion</p> <p>Filtering out SNPs that demonstrate cross-population heterogeneity enriches for variants more likely to be important and causative. Our approach provides an important and effective tool to help interpret results from the many GWA studies now underway.</p

    Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia.

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    BACKGROUND: Health-related quality of life of adults with osteogenesis imperfecta (OI), fibrous dysplasia (FD) and X-linked hypophosphatemia (XLH) remains poorly described. The aim of this study was to describe the HRQoL of adults with osteogenesis imperfecta, fibrous dysplasia and X-linked hypophophataemia and perform a cost-utility simulation to calculate the maximum cost that a health care system would be willing to pay for a hypothetical treatment of a rare bone disease. RESULTS: Participants completed the EQ-5D-5 L questionnaire between September 2014 and March 2016. For the economic simulation, we considered a hypothetical treatment that would be applied to OI participants in the lower tertile of the health utility score. A total of 109 study participants fully completed the EQ-5D-5 L questionnaire (response rate 63%). Pain/discomfort was the most problematic domain for participants with all three diseases (FD 31%, XLH 25%, OI 16%). The economic simulation identified an expected treatment impact of +2.5 QALYs gained per person during the 10-year period, which led to a willing to pay of £14,355 annually for a health care system willing to pay up to £50,000 for each additional QALY gained by an intervention. CONCLUSIONS: This is the first study to quantitatively measure and compare the HRQoL of adults with OI, FD and XLH and the first to use such data to conduct an economic simulation leading to healthcare system willingness-to-pay estimates for treatment of musculoskeletal rare diseases at various cost-effectiveness thresholds

    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.

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    Age at menarche is a marker of timing of puberty in females. It varies widely between individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes, cardiovascular disease, breast cancer and all-cause mortality. Studies of rare human disorders of puberty and animal models point to a complex hypothalamic-pituitary-hormonal regulation, but the mechanisms that determine pubertal timing and underlie its links to disease risk remain unclear. Here, using genome-wide and custom-genotyping arrays in up to 182,416 women of European descent from 57 studies, we found robust evidence (P < 5 × 10(-8)) for 123 signals at 106 genomic loci associated with age at menarche. Many loci were associated with other pubertal traits in both sexes, and there was substantial overlap with genes implicated in body mass index and various diseases, including rare disorders of puberty. Menarche signals were enriched in imprinted regions, with three loci (DLK1-WDR25, MKRN3-MAGEL2 and KCNK9) demonstrating parent-of-origin-specific associations concordant with known parental expression patterns. Pathway analyses implicated nuclear hormone receptors, particularly retinoic acid and γ-aminobutyric acid-B2 receptor signalling, among novel mechanisms that regulate pubertal timing in humans. Our findings suggest a genetic architecture involving at least hundreds of common variants in the coordinated timing of the pubertal transition

    Genomic, Pathway Network, and Immunologic Features Distinguishing Squamous Carcinomas

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    This integrated, multiplatform PanCancer Atlas study co-mapped and identified distinguishing molecular features of squamous cell carcinomas (SCCs) from five sites associated with smokin

    Pan-Cancer Analysis of lncRNA Regulation Supports Their Targeting of Cancer Genes in Each Tumor Context

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    Long noncoding RNAs (lncRNAs) are commonly dys-regulated in tumors, but only a handful are known toplay pathophysiological roles in cancer. We inferredlncRNAs that dysregulate cancer pathways, onco-genes, and tumor suppressors (cancer genes) bymodeling their effects on the activity of transcriptionfactors, RNA-binding proteins, and microRNAs in5,185 TCGA tumors and 1,019 ENCODE assays.Our predictions included hundreds of candidateonco- and tumor-suppressor lncRNAs (cancerlncRNAs) whose somatic alterations account for thedysregulation of dozens of cancer genes and path-ways in each of 14 tumor contexts. To demonstrateproof of concept, we showed that perturbations tar-geting OIP5-AS1 (an inferred tumor suppressor) andTUG1 and WT1-AS (inferred onco-lncRNAs) dysre-gulated cancer genes and altered proliferation ofbreast and gynecologic cancer cells. Our analysis in-dicates that, although most lncRNAs are dysregu-lated in a tumor-specific manner, some, includingOIP5-AS1, TUG1, NEAT1, MEG3, and TSIX, synergis-tically dysregulate cancer pathways in multiple tumorcontexts

    Pan-cancer Alterations of the MYC Oncogene and Its Proximal Network across the Cancer Genome Atlas

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    Although theMYConcogene has been implicated incancer, a systematic assessment of alterations ofMYC, related transcription factors, and co-regulatoryproteins, forming the proximal MYC network (PMN),across human cancers is lacking. Using computa-tional approaches, we define genomic and proteo-mic features associated with MYC and the PMNacross the 33 cancers of The Cancer Genome Atlas.Pan-cancer, 28% of all samples had at least one ofthe MYC paralogs amplified. In contrast, the MYCantagonists MGA and MNT were the most frequentlymutated or deleted members, proposing a roleas tumor suppressors.MYCalterations were mutu-ally exclusive withPIK3CA,PTEN,APC,orBRAFalterations, suggesting that MYC is a distinct onco-genic driver. Expression analysis revealed MYC-associated pathways in tumor subtypes, such asimmune response and growth factor signaling; chro-matin, translation, and DNA replication/repair wereconserved pan-cancer. This analysis reveals insightsinto MYC biology and is a reference for biomarkersand therapeutics for cancers with alterations ofMYC or the PMN
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