RESUMO
OBJECTIVE: To describe the geographic pattern of breast cancer incidence in a nationwide prospective cohort and investigate whether environmental exposures and/or neighborhood socioeconomic status explain observed geographic disparities. METHODS: Using accelerated failure time models with a spatial random effect term, we mapped the health region-level association between residential location and breast cancer incidence for 44,707 participants in the Sister Study after controlling for established individual-level breast cancer risk factors. We performed a variable selection process to select environmental exposures [i.e., ambient nitrogen dioxide (NO2) and fine particulate matter (PM2.5), PM2.5 chemical composition, outdoor light at night (LAN), ambient noise, ultraviolet radiation, and greenspace] and neighborhood-level factors [i.e., population density and area deprivation index (ADI)] that predicted breast cancer incidence and quantified the spatial variation explained by the selected factors. We also considered whether the geographic pattern and predictors were similar when restricting to estrogen receptor-positive (ER+) tumors. RESULTS: We observed a spatial patterning in the incidence of overall breast cancer (Moran's I = 16.7, p < 0.05) and ER+ breast cancer (Moran's I = 13.2, p < 0.05), with a lower risk observed in the South and Southeast and a greater risk in the Northwest and certain areas of the Midwest and Northeast. NO2, LAN, and ADI explained 21.4% of the spatial variation in overall breast cancer incidence whereas NO2, PM2.5 chemical composition, LAN, greenspace, and ADI together explained 63.3% of the spatial variation in ER+ breast cancer incidence. CONCLUSIONS: Our findings provide additional evidence for a role of environmental exposures in breast cancer incidence and suggest that geographic-based risk factors may vary according to breast cancer subtype. Our findings support the need for additional research to quantify the relative contributions of geographic-based risk factors for breast cancer.
Assuntos
Neoplasias da Mama , Humanos , Feminino , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/etiologia , Dióxido de Nitrogênio , Estudos Prospectivos , Raios Ultravioleta , Fatores Socioeconômicos , Material ParticuladoRESUMO
COVID-19 impacted hospital systems across the globe. Focus shifted to responding to increased healthcare demand while mitigating COVID-19 spread on their campuses. Mitigation efforts limited medical professional-patient interactions, including patient access to preventive cancer screenings. Data were gleaned from a health information exchange containing records on over 2 million patients in southeastern North Carolina, USA. This study tested five hypotheses: H1: Weekly cancer screenings significantly decreased during North Carolina's (NC) Stay-At-Home (SAH) orders; H2: Weekly cancer diagnoses significantly decreased during NC's SAH orders; H3: Weekly cancer screenings significantly increased after the end of NC's SAH orders; H4: Weekly cancer diagnoses significantly increased after the end of NC's SAH orders; and H5: Weekly advanced cancer diagnoses significantly increased after the end of NC's SAH orders. Time series regression analysis was employed to quantify trends. Results suggested strong support of H1 and H3, moderate support of H4, mixed support of H5, and no support of H2. For example, compared to before the SAH orders, we estimated 662.3 fewer weekly breast cancer screenings during the SAH orders (H1). After the SAH orders (H3), we estimated 232.5 more breast cancer screenings and 10.6 more breast cancer diagnoses. This work quantifies the impact of COVID-19 associated SAH orders on cancer screenings and diagnoses and suggests the potential for delayed or missed cancer diagnoses. This evident disruption in providing routine medical care also highlights the importance of strengthening health systems (or organizations) and improving resilience to natural disasters and infectious disease outbreaks.
Assuntos
Neoplasias da Mama , COVID-19 , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/prevenção & controle , COVID-19/diagnóstico , Detecção Precoce de Câncer , Feminino , Humanos , North Carolina , QuarentenaRESUMO
Von Willebrand disease (VWD) is the most common bleeding disorder and reportedly affects 1:1,000 of the world's population. There are three subtypes of VWD characterized by a quantitative defect (types 1 and 3 VWD) or a qualitative defect (type 2 VWD). Type 1 VWD results in a partial deficiency of von Willebrand factor (VWF) and affects approximately 75% of individuals with VWD, whereas type 3 VWD results in a severe or complete deficiency of VWF. Individuals with type 2 VWD subtypes (types 2A, 2B, 2M, and 2N VWD) express a dysfunctional VWF protein that has impaired interactions with platelets or factor VIII. The majority of individuals with VWD have mild type 1 VWD and occasionally require bolus infusions of VWF for severe bleeding or major surgery. A subset of patients, especially those with type 2A or 3 VWD, may require more frequent VWF replacement or prophylaxis for refractory bleeding or bleeding prevention, respectively. Acquired von Willebrand syndrome (AVWS) is a rare bleeding disorder that primarily occurs as a result of an underlying disease or other pathologic mechanism. Cases of AVWS associated with heart valve defects, left ventricular assist devices, or congenital cardiac disease result from high shear stress in the circulation that induces VWF unfolding and subsequent proteolysis of high-molecular-weight multimers by ADAMTS-13. In rare instances, plasma-derived factor VIII-containing VWF concentrates have been administered to individuals with AVWS for persistent or challenging bleeding events. In this case report, the hemostatic challenges and the perioperative management of cardiac transplantation surgery using a novel recombinant VWF product in a pediatric patient diagnosed with AVWS concomitant with congenital type 1 VWD are described. Written informed consent was obtained from the patient's mother for this case report. The diagnosis of congenital VWD remains a challenge because of multiple potential modifiers that can alter VWF laboratory results. Concurrent conditions, such as congenital heart disease and the rare secondary condition of AVWS, in addition to congenital VWD, can further affect interpretation of coagulation studies. This can result in delays in diagnosis, increase severity of the bleeding phenotype, and complicate hemostatic management in individuals at risk for bleeding and thrombosis. A multidisciplinary approach, including anesthesiologists, cardiologists, cardiovascular surgeons, hematologists, and pharmacists, is critical to achieving optimal patient outcomes, as highlighted in this case report. As diagnostic capabilities and understanding of VWD broaden, future studies evaluating alternative treatment approaches for individuals with various types of VWD would be of great benefit to the medical community.
Assuntos
Transplante de Coração , Doenças de von Willebrand , Testes de Coagulação Sanguínea , Criança , Transplante de Coração/efeitos adversos , Hemorragia/complicações , Humanos , Doenças de von Willebrand/complicações , Doenças de von Willebrand/cirurgia , Fator de von Willebrand/metabolismoRESUMO
The introduction of spatial and temporal frailty parameters in survival models furnishes a way to represent unmeasured confounding in the outcome of interest. Using a Bayesian accelerated failure time model, we are able to flexibly explore a wide range of spatial and temporal options for structuring frailties as well as examine the benefits of using these different structures in certain settings. A setting of particular interest for this work involved using temporal frailties to capture the impact of events of interest on breast cancer survival. Our results suggest that it is important to include these temporal frailties when there is a true temporal structure to the outcome and including them when a true temporal structure is absent does not sacrifice model fit. Additionally, the frailties are able to correctly recover the truth imposed on simulated data without affecting the fixed effect estimates. In the case study involving Louisiana breast cancer-specific mortality, the temporal frailty played an important role in representing the unmeasured confounding related to improvements in knowledge, education, and disease screenings as well as the impacts of Hurricane Katrina and the passing of the Affordable Care Act. In conclusion, the incorporation of temporal, in addition to spatial, frailties in survival analysis can lead to better fitting models and improved inference by representing both spatially and temporally varying unmeasured risk factors and confounding that could impact survival. Specifically, we successfully estimated changes in survival around the time of events of interest.
Assuntos
Bioestatística/métodos , Neoplasias da Mama/mortalidade , Modelos Estatísticos , Análise de Sobrevida , HumanosRESUMO
BACKGROUND: Spatial heterogeneity of prostate cancer-specific mortality in Pennsylvania remains unclear. We utilized advanced geospatial survival regressions to examine spatial variation of prostate cancer-specific mortality in PA and evaluate potential effects of individual- and county-level risk factors. METHODS: Prostate cancer cases, aged ≥40 years, were identified in the 2004-2014 Pennsylvania Cancer Registry. The 2018 County Health Rankings data and the 2014 U.S. Environmental Protection Agency's Environmental Quality Index were used to extract county-level data. The accelerated failure time models with spatial frailties for geographical correlations were used to assess prostate cancer-specific mortality rates for Pennsylvania and by the Penn State Cancer Institute (PSCI) 28-county catchment area. Secondary assessment based on estimated spatial frailties was conducted to identify potential health and environmental risk factors for mortality. RESULTS: There were 94,274 cases included. The 5-year survival rate in PA was 82% (95% confidence interval, CI: 81.1-82.8%), with the catchment area having a lower survival rate 81% (95% CI: 79.5-82.6%) compared to the non-catchment area rate of 82.3% (95% CI: 81.4-83.2%). Black men, uninsured, more aggressive prostate cancer, rural and urban Appalachia, positive lymph nodes, and no definitive treatment were associated with lower survival. Several county-level health (i.e., poor physical activity) and environmental factors in air and land (i.e., defoliate chemical applied) were associated with higher mortality rates. CONCLUSIONS: Spatial variations in prostate cancer-specific mortality rates exist in Pennsylvania with a higher risk in the PSCI's catchment area, in particular, rural-Appalachia. County-level health and environmental factors may contribute to spatial heterogeneity in prostate cancer-specific mortality.
Assuntos
Etnicidade/estatística & dados numéricos , Neoplasias da Próstata/mortalidade , Sistema de Registros/estatística & dados numéricos , Adulto , Idoso , Seguimentos , Geografia , Humanos , Masculino , Pessoa de Meia-Idade , Pennsylvania/epidemiologia , Prognóstico , Neoplasias da Próstata/epidemiologia , Fatores de Risco , População Rural , Análise Espacial , Taxa de SobrevidaRESUMO
BACKGROUND: Toxic metals show evidence of carcinogenic and estrogenic properties. However, little is known about the relationship between airborne metals and breast cancer. We evaluated the risk of breast cancer in relation to exposure to toxic metallic substances in air, individually and combined, in a US-wide cohort. METHODS: Sister Study participants (n = 50,884), breast cancer-free women who had a sister with breast cancer were recruited, from 2003 to 2009. The 2005 Environmental Protection Agency National Air Toxic Assessment's census-tract estimates of metal concentrations in air (antimony, arsenic, cadmium, chromium, cobalt, lead, manganese, mercury, nickel, and selenium) were matched to participants' enrollment residence. We used Cox regression to estimate the association between quintiles of individual metals and breast cancer incidence and weighted quantile sum regression to model the association between the metal mixture and breast cancer. RESULTS: A total of 2,587 breast cancer cases were diagnosed during follow-up (mean = 7.4 years). In individual chemical analyses comparing the highest to lowest quintiles, postmenopausal breast cancer risk was elevated for mercury (hazard ratio [HR] = 1.3, 95% confidence interval [CI], 1.1, 1.5), cadmium (HR = 1.1, 95% CI, 0.96, 1.3), and lead (HR = 1.1, 95% CI, 0.98, 1.3). The weighted quantile sum index was associated with postmenopausal breast cancer (odds ratio [OR] = 1.1, 95% CI, 1.0, 1.1). Consistent with the individual chemical analysis, the most highly weighted chemicals for predicting postmenopausal breast cancer risk were lead, cadmium, and mercury. Results were attenuated for overall breast cancer. CONCLUSIONS: Higher levels of some airborne metals, specifically mercury, cadmium, and lead, were associated with a higher risk of postmenopausal breast cancer.
Assuntos
Poluentes Atmosféricos/toxicidade , Neoplasias da Mama/epidemiologia , Exposição Ambiental , Metais Pesados/toxicidade , Adulto , Idoso , Poluentes Atmosféricos/análise , Cádmio/análise , Cádmio/toxicidade , Estudos de Coortes , Feminino , Humanos , Chumbo/toxicidade , Mercúrio/análise , Mercúrio/toxicidade , Metais Pesados/análise , Pessoa de Meia-Idade , Estudos Retrospectivos , Irmãos , Inquéritos e Questionários , Estados Unidos/epidemiologiaRESUMO
It is our primary focus to study the spatial distribution of disease incidence at different geographical levels. Often, spatial data are available in the form of aggregation at multiple scale levels such as census tract, county, state, and so on. When data are aggregated from a fine (e.g. county) to a coarse (e.g. state) geographical level, there will be loss of information. The problem is more challenging when excessive zeros are available at the fine level. After data aggregation, the excessive zeros at the fine level will be reduced at the coarse level. If we ignore the zero inflation and the aggregation effect, we could get inconsistent risk estimates at the fine and coarse levels. Hence, in this paper, we address those problems using zero inflated multiscale models that jointly describe the risk variations at different geographical levels. For the excessive zeros at the fine level, we use a zero inflated convolution model, whereas we consider a regular convolution model for the smoothed data at the coarse level. These methods provide a consistent risk estimate at the fine and coarse levels when high percentages of structural zeros are present in the data.
RESUMO
One of the main goals in spatial epidemiology is to study the geographical pattern of disease risks. For such purpose, the convolution model composed of correlated and uncorrelated components is often used. However, one of the two components could be predominant in some regions. To investigate the predominance of the correlated or uncorrelated component for multiple scale data, we propose four different spatial mixture multiscale models by mixing spatially varying probability weights of correlated (CH) and uncorrelated heterogeneities (UH). The first model assumes that there is no linkage between the different scales and, hence, we consider independent mixture convolution models at each scale. The second model introduces linkage between finer and coarser scales via a shared uncorrelated component of the mixture convolution model. The third model is similar to the second model but the linkage between the scales is introduced through the correlated component. Finally, the fourth model accommodates for a scale effect by sharing both CH and UH simultaneously. We applied these models to real and simulated data, and found that the fourth model is the best model followed by the second model.
Assuntos
Epidemiologia , Modelos Estatísticos , Humanos , Medição de RiscoRESUMO
Objectives-The nonstress test is currently the most widely used modality for antenatal surveillance in twin pregnancies, with a quoted false-positive rate of 11%-12%. Our objective was to report our experience with the sonographic portion of the biophysical profile in twin pregnancies as the primary screening modality.Methods-Women with twin pregnancies delivered by a single maternal-fetal medicine practice from 2005 to 2013 were included. We excluded monoamniotic twins. Twin pregnancies began weekly sonography for the biophysical profile starting at 32 to 33 weeks, or earlier if indicated. The nonstress test was performed if the sonographic biophysical profile score was less than 8 of 8. We reviewed biophysical profile scores and outcomes for all patients who delivered at 33 weeks or later to assess the false-positive rate for the biophysical profile, as well as the incidence of intrauterine fetal death (IUFD) after initiation of antenatal surveillance.Results-A total of 539 twin pregnancies were included. The incidence of IUFD per patient was 2 per 539 (0.4%; 95% confidence interval [CI], 0.1%-1.3%), and the incidence of IUFD per fetus was 2 per 1078 (0.19%; 95% CI, 0.05%-0.7%). The overall positive screen rate was 24 per 539 (4.45%; 95% CI, 3.0%-6.5%). The false-positive screen rate, defined as an abnormal biophysical profile that did not diagnose an IUFD or lead to delivery, was 10 per 539 (1.9%; 95% CI, 1.0%-3.4%).Conclusions-In twin pregnancies the use of the sonographic biophysical profile for routine antenatal surveillance has a low false-positive rate, with a very low incidence of IUFD. The sonographic biophysical profile should be considered as a primary mode for antenatal surveillance in twin pregnancies, with a reflex nonstress test for an abnormal score.
Assuntos
Doenças em Gêmeos/diagnóstico por imagem , Doenças em Gêmeos/mortalidade , Doenças Fetais/diagnóstico por imagem , Doenças Fetais/mortalidade , Gravidez de Gêmeos/estatística & dados numéricos , Ultrassonografia Pré-Natal/estatística & dados numéricos , Adulto , Feminino , Morte Fetal/prevenção & controle , Doenças Fetais/prevenção & controle , Humanos , Incidência , New York/epidemiologia , Gravidez , Diagnóstico Pré-Natal/métodos , Diagnóstico Pré-Natal/estatística & dados numéricos , Fatores de Risco , Taxa de Sobrevida , Ultrassonografia Pré-Natal/métodos , Conduta Expectante/métodos , Conduta Expectante/estatística & dados numéricosRESUMO
The ability of organisms to adapt to sudden extreme environmental changes produces some of the most drastic examples of rapid phenotypic evolution. The Mexican Tetra, Astyanax mexicanus, is abundant in the surface waters of northeastern Mexico, but repeated colonizations of cave environments have resulted in the independent evolution of troglomorphic phenotypes in several populations. Here, we present three chromosome-scale assemblies of this species, for one surface and two cave populations, enabling the first whole-genome comparisons between independently evolved cave populations to evaluate the genetic basis for the evolution of adaptation to the cave environment. Our assemblies represent the highest quality of sequence completeness with predicted protein-coding and noncoding gene metrics far surpassing prior resources and, to our knowledge, all long-read assembled teleost genomes, including zebrafish. Whole-genome synteny alignments show highly conserved gene order among cave forms in contrast to a higher number of chromosomal rearrangements when compared with other phylogenetically close or distant teleost species. By phylogenetically assessing gene orthology across distant branches of amniotes, we discover gene orthogroups unique to A. mexicanus. When compared with a representative surface fish genome, we find a rich amount of structural sequence diversity, defined here as the number and size of insertions and deletions as well as expanding and contracting repeats across cave forms. These new more complete genomic resources ensure higher trait resolution for comparative, functional, developmental, and genetic studies of drastic trait differences within a species.
Assuntos
Cavernas , Characidae , Cromossomos , Animais , Characidae/genética , Cromossomos/genética , Filogenia , Genoma , Genômica/métodos , Variação Genética , Locos de Características Quantitativas , Sintenia , FenótipoRESUMO
The fishing cat, Prionailurus viverrinus, faces a population decline, increasing the importance of maintaining healthy zoo populations. Unfortunately, zoo-managed individuals currently face a high prevalence of transitional cell carcinoma (TCC), a form of bladder cancer. To investigate the genetics of inherited diseases among captive fishing cats, we present a chromosome-scale assembly, generate the pedigree of the zoo-managed population, reaffirm the close genetic relationship with the Asian leopard cat (Prionailurus bengalensis), and identify 7.4 million single nucleotide variants (SNVs) and 23,432 structural variants (SVs) from whole genome sequencing (WGS) data of healthy and TCC cats. Only BRCA2 was found to have a high recurrent number of missense mutations in fishing cats diagnosed with TCC when compared to inherited human cancer risk variants. These new fishing cat genomic resources will aid conservation efforts to improve their genetic fitness and enhance the comparative study of feline genomes.
Assuntos
Carcinoma de Células de Transição , Neoplasias da Bexiga Urinária , Gatos , Animais , Humanos , Genoma/genética , Neoplasias da Bexiga Urinária/patologia , Carcinoma de Células de Transição/patologia , Genômica , Células Germinativas/patologiaRESUMO
BACKGROUND: The benefits of being in employment are well documented; however, underemployment is a critical issue for people with intellectual disability (ID). Some individuals perceive themselves as being in employment when in fact they are attending a non-work site such as a day service. The impact that this perception of employment has on other areas in life has not been investigated and research into this area could have implications for both policy makers and service providers. MATERIALS AND METHODS: The first wave of the intellectual disability Supplement to the Irish Longitudinal Study on Ageing (IDS-TILDA) included a series of questions on employment that yielded data for a representative sample of 753 participants with intellectual disability aged 40 and over randomly selected from Ireland's National Intellectual Disability Database (NIDD). RESULTS AND DISCUSSION: Overall, 6.6% of the population were in real paid employment, 7.4% in perceived employment, 12% in sheltered employment and 73.5% were unemployed. Differences were identified between these two groups in relation to social activities, levels of depression and self-rated health. Further investigation is needed into the area of perceived employment.
Assuntos
Emprego/psicologia , Deficiência Intelectual/psicologia , Adulto , Envelhecimento/psicologia , Readaptação ao Emprego/psicologia , Feminino , Inquéritos Epidemiológicos , Humanos , Irlanda , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Sistema de Registros , Percepção Social , Inquéritos e Questionários , Desemprego/psicologiaRESUMO
OBJECTIVES/HYPOTHESIS: To determine if the Vocal Priorities Questionnaire (VPQ) could be used in people who were not seeking treatment for a voice problem. To determine if the VPQ could be used to compare groups based on self-reported voice problems. To determine if vocal priorities (loudness, clarity, pitch, pitch range) vary based on self-reported voice problems. STUDY DESIGN: Prospective cross-sectional study. METHODS: An online survey that contained demographic questions, questions about self-reported voice problems, and the VPQ was distributed to undergraduate university students. Confirmatory factor analyses (CFA) and exploratory factor analysis (EFA) were completed to determine if the VPQ was appropriate for use in this population. Invariance testing determined if the VPQ could be used to compare groups. Cronbach's alpha determined internal consistency. An analysis of variance was conducted to compare the scores for each vocal priority across three self-reported voice problem categories: never, current, and past. RESULTS: Responses from 285 participants were analyzed. An initial CFA found that the four-priority VPQ originally proposed did not have adequate fit indices. An EFA and modified CFA revealed that four priorities were still present, but "not having a gravelly voice" fit better with the priority of pitch, not clarity. With this model, invariance was verified and Cronbach's alpha indicated internal consistency. Loudness was the top vocal priority for 34.8%. In those with a past voice problem, clarity was scored higher compared to those with a current voice problem, F(2, 284) = 5.298, P = 0.006, and pitch range was scored higher compared to those who had never experienced a voice problem, F(2, 284) = 5.431, P = 0.005. CONCLUSIONS: A modified four-priority version of the VPQ presented with acceptable dimensionality and invariance for college students with and without self-reported voice problems. Scores for clarity and pitch range were influenced by experiences with voice problems.
RESUMO
BACKGROUND: Since its complete roll-out in 2009, the French colorectal cancer screening program (CRCSP) experienced 3 major constraints [use of a less efficient Guaiac-test (gFOBT), stopping the supply of Fecal-Immunochemical-Test kits (FIT), and suspension of the program due to the coronavirus disease 2019 (COVID-19)] affecting its effectiveness. AIM: To describe the impact of the constraints in terms of changes in the quality of screening-colonoscopy (Quali-Colo). METHODS: This retrospective cohort study included screening-colonoscopies performed by gastroenterologists between Jan-2010 and Dec-2020 in people aged 50-74 living in Ile-de-France (France). The changes in Quali-colo (Proportion of colonoscopies performed beyond 7 mo (Colo_7 mo), Frequency of serious adverse events (SAE) and Colonoscopy detection rate) were described in a cohort of Gastroenterologists who performed at least one colonoscopy over each of the four periods defined according to the chronology of the constraints [gFOBT: Normal progress of the CRCSP using gFOBT (2010-2014); FIT: Normal progress of the CRCSP using FIT (2015-2018); STOP-FIT: Year (2019) during which the CRCSP experienced the cessation of the supply of test kits; COVID: Program suspension due to the COVID-19 health crisis (2020)]. The link between each dependent variable (Colo_7 mo; SAE occurrence, neoplasm detection rate) and the predictive factors was analyzed in a two-level multivariate hierarchical model. RESULTS: The 533 gastroenterologists (cohort) achieved 21509 screening colonoscopies over gFOBT period, 38352 over FIT, 7342 over STOP-FIT and 7995 over COVID period. The frequency of SAE did not change between periods (gFOBT: 0.3%; FIT: 0.3%; STOP-FIT: 0.3%; and COVID: 0.2%; P = 0.10). The risk of Colo_7 mo doubled between FIT [adjusted odds ratio (aOR): 1.2 (1.1; 1.2)] and STOP-FIT [aOR: 2.4 (2.1; 2.6)]; then, decreased by 40% between STOP-FIT and COVID [aOR: 2.0 (1.8; 2.2)]. Regardless of the period, this Colo_7 mo's risk was twice as high for screening colonoscopy performed in a public hospital [aOR: 2.1 (1.3; 3.6)] compared to screening-colonoscopy performed in a private clinic. The neoplasm detection, which increased by 60% between gFOBT and FIT [aOR: 1.6 (1.5; 1.7)], decreased by 40% between FIT and COVID [aOR: 1.1 (1.0; 1.3)]. CONCLUSION: The constraints likely affected the time-to-colonoscopy as well as the colonoscopy detection rate without impacting the SAE's occurrence, highlighting the need for a respectable reference time-to-colonoscopy in CRCSP.
Assuntos
COVID-19 , Neoplasias Colorretais , Gastroenterologistas , Humanos , Guaiaco , Detecção Precoce de Câncer , Estudos Retrospectivos , COVID-19/diagnóstico , COVID-19/epidemiologia , Neoplasias Colorretais/diagnóstico , Neoplasias Colorretais/epidemiologia , Programas de Rastreamento , Colonoscopia , Sangue Oculto , Compostos RadiofarmacêuticosRESUMO
The ability of organisms to adapt to sudden extreme environmental changes produces some of the most drastic examples of rapid phenotypic evolution. The Mexican Tetra, Astyanax mexicanus, is abundant in the surface waters of northeastern Mexico, but repeated colonizations of cave environments have resulted in the independent evolution of troglomorphic phenotypes in several populations. Here, we present three chromosome-scale assemblies of this species, for one surface and two cave populations, enabling the first whole-genome comparisons between independently evolved cave populations to evaluate the genetic basis for the evolution of adaptation to the cave environment. Our assemblies represent the highest quality of sequence completeness with predicted protein-coding and non-coding gene metrics far surpassing prior resources and, to our knowledge, all long-read assembled teleost genomes, including zebrafish. Whole genome synteny alignments show highly conserved gene order among cave forms in contrast to a higher number of chromosomal rearrangements when compared to other phylogenetically close or distant teleost species. By phylogenetically assessing gene orthology across distant branches of amniotes, we discover gene orthogroups unique to A. mexicanus. When compared to a representative surface fish genome, we find a rich amount of structural sequence diversity, defined here as the number and size of insertions and deletions as well as expanding and contracting repeats across cave forms. These new more complete genomic resources ensure higher trait resolution for comparative, functional, developmental, and genetic studies of drastic trait differences within a species.
RESUMO
The role of structurally dynamic genomic regions in speciation is poorly understood due to challenges inherent in diploid genome assembly. Here we reconstructed the evolutionary dynamics of structural variation in five cat species by phasing the genomes of three interspecies F1 hybrids to generate near-gapless single-haplotype assemblies. We discerned that cat genomes have a paucity of segmental duplications relative to great apes, explaining their remarkable karyotypic stability. X chromosomes were hotspots of structural variation, including enrichment with inversions in a large recombination desert with characteristics of a supergene. The X-linked macrosatellite DXZ4 evolves more rapidly than 99.5% of the genome clarifying its role in felid hybrid incompatibility. Resolved sensory gene repertoires revealed functional copy number changes associated with ecomorphological adaptations, sociality and domestication. This study highlights the value of gapless genomes to reveal structural mechanisms underpinning karyotypic evolution, reproductive isolation and ecological niche adaptation.
Assuntos
Evolução Molecular , Genômica , Haplótipos/genética , Genoma/genética , Dosagem de GenesRESUMO
CONTEXT: Athletic trainers' (ATs') job satisfaction has been extensively researched, yet little is known about how satisfaction relates to organizational culture. OBJECTIVE: To examine ATs' level of job satisfaction with and organizational-fit perceptions of their employment setting. DESIGN: Cross-sectional study. SETTING: Web-based questionnaire. PATIENTS OR OTHER PARTICIPANTS: A total of 5704 ATs (full-time employment, nonacademic appointment) were contacted via email; 841 participants began our survey (access rate = 14.7%), and 285 completed it (5.0% response rate; 33.9% completion rate). Demographic characteristics were men = 107 (37.5%), women = 178 (62.5%); age = 34.8 ± 9.9 years; and employment setting = 34.7% (n = 99) from National Collegiate Athletic Association Division I, 18.9% (n = 54) from Division II, 29.5% (n = 84) from Division III, and 16.9% (n = 48) other. MAIN OUTCOME MEASURE(S): Participants responded to an online survey consisting of demographic questions, a 36-item Likert-scale Job Satisfaction Survey, and the Cable and Judge revision of the O'Reilly, Chatman, and Caldwell 40-item ranking Organizational Culture Profile survey. Multiple linear regression models for total or subscale job satisfaction were used to analyze the data. All models adjusted for the same demographic measures, and the independent variables of interest were created from the organizational culture survey responses. RESULTS: Coworkers (minimum [min] = 9, maximum [max] = 24, ρ = .79), communications (min = 9, max = 24, ρ = .78), and work itself (min = 4, max = 24, ρ = .71) were most correlated with the total job satisfaction score (min = 96, max = 175). Of the respondents, 54% selected adaptability, stability, and taking individual responsibility as 1 of their 2 most characteristic attributes in the organizational culture profile. In addition, 83% of respondents indicated being aggressive, receiving high pay for good performance, and being distinctive or different from others as their 2 least characteristic traits. CONCLUSIONS: The job satisfaction of these ATs was affected most by organizational factors, such as coworkers and communication, as well as by individual attributes such as adaptability, stability, and taking personal responsibility.
Assuntos
Satisfação no Emprego , Esportes , Masculino , Feminino , Humanos , Adulto Jovem , Adulto , Universidades , Estudos Transversais , Emprego , Inquéritos e QuestionáriosRESUMO
INTRODUCTION: We investigated the frequency and variation in three mental health diagnoses among obese or overweight children and adolescents. METHOD: Logistic regression was used to examine the association between the outcome variables-anxiety, depression, and adjustment disorders-with the following covariates: overweight/obesity status, sex, age, and race. RESULTS: Findings show anxiety, depressive, and adjustment disorder diagnoses were significantly higher for overweight or obese youth in our sample. In addition, diagnosis rates for one or more of these disorders increase as children grow into adolescence. Furthermore, we found significantly higher rates of depression and significantly lower rates of anxiety among youth who live in places with higher rates of poverty. DISCUSSION: Findings indicate a target age for providers to focus on mental health screening among overweight/obese patients: (1) early adolescence (aged 11-14 years) for depressive and adjustment disorders and (2) early childhood (aged 2-4 years) for anxiety disorder.
RESUMO
Community vulnerability is widely viewed as an important aspect to consider when modeling disease. Although COVID-19 does disproportionately impact vulnerable populations, human behavior as measured by community mobility is equally influential in understanding disease spread. In this research, we seek to understand which of four composite measures perform best in explaining disease spread and mortality, and we explore the extent to which mobility account for variance in the outcomes of interest. We compare two community mobility measures, three composite measures of community vulnerability, and one composite measure that combines vulnerability and human behavior to assess their relative feasibility in modeling the US COVID-19 pandemic. Extensions - via temporally dependent fixed effect coefficients - of the commonly used Bayesian spatio-temporal Poisson disease mapping models are implemented and compared in terms of goodness of fit as well as estimate precision and viability. A comparison of goodness of fit measures nearly unanimously suggests the human behavior-based models are superior. The duration at residence mobility measure indicates two unique and seemingly inverse relationships between mobility and the COVID-19 pandemic: the findings indicate decreased COVID-19 presence with decreased mobility early in the pandemic and increased COVID-19 presence with decreased mobility later in the pandemic. The early indication is likely influenced by a large presence of state-issued stay at home orders and self-quarantine, while the later indication likely emerges as a consequence of holiday gatherings in a country under limited restrictions. This study implements innovative statistical methods and furnishes results that challenge the generally accepted notion that vulnerability and deprivation are key to understanding disparities in health outcomes. We show that human behavior is equally, if not more important to understanding disease spread. We encourage researchers to build upon the work we start here and continue to explore how other behaviors influence the spread of COVID-19.