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  1. Objective:

    To determine what symptom differences are prevalent in patients with differing ages of endometriosis symptom onset.

    Material and methods:

    We obtained clinical and demographic data from 1560 individuals with suspected pelvic conditions undergoing laparoscopy from the Endometriosis Patient Registry at Ponce Health Science University-Ponce Research Institute. We then generated predictive models by fitting logistic regressions to the patient data. We determined association between symptoms and age at symptom onset in patients with endometriosis by generating predictive linear and multinomial logistic regression models.

    Results:

    Our best model had an accuracy of 81.76%, with a sensitivity of 89.32% and a specificity of 64.57% at an optimal threshold of 0.75. Classic endometriosis symptoms such as dyspareunia and pelvic pain showed different prevalence rates based on patient age at onset of symptoms.

    Conclusion:

    Symptom-based predictive models are able to predict patients’ likelihood of having endometriosis in a non-invasive and accessible manner. Gynecologic and pelvic symptoms including dyspareunia and presence of uterine fibroids are significantly associated with age at symptom onset.

     
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  2. Most physical therapists would agree that physical rehabilitation is difficult to perform remotely. Consequently, the global COVID-19 pandemic has forced many physical therapists and their clients to adapt to telehealth, especially with video conferencing. In this article, we ask: How has telehealth for physical rehabilitation evolved with the global pandemic and what are the largest technological needs, treatment methodologies, and patient barriers? With the increased widespread use of telehealth for physical therapy, we present a qualitative study towards examining the shortcomings of current physical therapy mediums and how to steer future virtual reality technologies to promote remote patient evaluation and rehabilitation. We interviewed 130 physical rehabilitation professionals across the United States through video conferencing during the COVID19 pandemic from July—August 2020. Interviews lasted 30–45 min using a semi-structured template developed from an initial pilot of 20 interviews to examine potential barriers, facilitators, and technological needs. Our findings suggest that physical therapists utilizing existing telehealth solutions have lost their ability to feel their patients’ injuries, easily assess range of motion and strength, and freely move about to examine their movements when using telehealth. This makes it difficult to fully evaluate a patient and many feel that they are more of a “life coach” giving advice to a patient rather than a traditional in-person rehabilitation session. The most common solutions that emerged during the interviews include: immersive technologies which allow physical therapists and clients 1) to remotely walk around each other in 3D, 2) enable evidence-based measures, 3) automate documentation, and 4) provider clinical practice operation through the cloud. We conclude with a discussion on opportunities for immersive virtual reality towards telehealth for physical rehabilitation. 
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  3. Murphy, William (Ed.)
    Abstract Indirect genetic effects (IGE) occur when an individual’s phenotype is influenced by genetic variation in conspecifics. Opportunities for IGE are ubiquitous, and, when present, IGE have profound implications for behavioral, evolutionary, agricultural, and biomedical genetics. Despite their importance, the empirical study of IGE lags behind the development of theory. In large part, this lag can be attributed to the fact that measuring IGE, and deconvoluting them from the direct genetic effects of an individual’s own genotype, is subject to many potential pitfalls. In this Perspective, we describe current challenges that empiricists across all disciplines will encounter in measuring and understanding IGE. Using ideas and examples spanning evolutionary, agricultural, and biomedical genetics, we also describe potential solutions to these challenges, focusing on opportunities provided by recent advances in genomic, monitoring, and phenotyping technologies. We hope that this cross-disciplinary assessment will advance the goal of understanding the pervasive effects of conspecific interactions in biology. 
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  4. Abstract

    Infectious diseases can cause steep declines in wildlife populations, leading to changes in genetic diversity that may affect the susceptibility of individuals to infection and the overall resilience of populations to pathogen outbreaks. Here, we examine evidence for a genetic bottleneck in a population of American crows (Corvus brachyrhynchos) before and after the emergence of West Nile virus (WNV). More than 50% of marked birds in this population were lost over the 2‐year period of the epizootic, representing a 10‐fold increase in adult mortality. Using analyses of single‐nucleotide polymorphisms (SNPs) and microsatellite markers, we tested for evidence of a genetic bottleneck and compared levels of inbreeding and immigration in the pre‐ and post‐WNV populations. Counter to expectations, genetic diversity (allelic diversity and the number of new alleles) increased after WNV emergence. This was likely due to increases in immigration, as the estimated membership coefficients were lower in the post‐WNV population. Simultaneously, however, the frequency of inbreeding appeared to increase: Mean inbreeding coefficients were higher among SNP markers, and heterozygosity–heterozygosity correlations were stronger among microsatellite markers, in the post‐WNV population. These results indicate that loss of genetic diversity at the population level is not an inevitable consequence of a population decline, particularly in the presence of gene flow. The changes observed in post‐WNV crows could have very different implications for their response to future pathogen risks, potentially making the population as a whole more resilient to a changing pathogen community, while increasing the frequency of inbred individuals with elevated susceptibility to disease.

     
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  5. Abstract

    Calcium oxalate raphide crystals are found in bundles in intravacuolar membrane chambers of specialized idioblasts cells of most plant families. Aroid raphides are proposed to cause acridity in crops such as taro (Colocasia esculenta(L.) Schott). Acridity is irritation that causes itchiness and pain when raw/insufficiently cooked tissues are eaten. Since raphides do not always cause acridity and since acridity can be inactivated by cooking and/or protease treatment, it is possible that a toxin or allergen‐like compound is associated with the crystals. Using two‐dimensional (2D) gel electrophoresis and mass spectrometry (MS) peptide sequencing of selected peptides from purified raphides and taro apex transcriptome sequencing, we showed the presence on the raphides of peptides normally associated with mitochrondria (ATP synthase), chloroplasts (chaperonin ~60 kDa), cytoplasm (actin, profilin), and vacuole (V‐type ATPase) that indicates a multistage biocrystallation process ending with possible invagination of the tonoplast and addition of mucilage that may be derived from the Golgi. Actin might play a crucial role in the generation of the needle‐like raphides. One of the five raphide profilins genes was highly expressed in the apex and had a 17‐amino acid insert that significantly increased that profilin's antigenic epitope peak. A second profilin had a 2‐amino acid insert and also had a greater B‐cell epitope prediction. Taro profilins showed 83% to 92% similarity to known characterized profilins. Further, commercial allergen test strips for hazelnuts, where profilin is a secondary allergen, have potential for screening in a taro germplasm to reduce acridity and during food processing to avoid overcooking.

     
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  6. Abstract

    Understanding the genomic consequences of population decline is important for predicting species' vulnerability to intensifying global change. Empirical information about genomic changes in populations in the early stages of decline, especially for those still experiencing immigration, remains scarce. We used 7834 autosomal SNPs and demographic data for 288 Florida scrub jays (Aphelocoma coerulescens; FSJ) sampled in 2000 and 2008 to compare levels of genetic diversity, inbreeding, relatedness, and lengths of runs of homozygosity (ROH) between two subpopulations within dispersal distance of one another but have experienced contrasting demographic trajectories. At Archbold Biological Station (ABS), the FSJ population has been stable because of consistent habitat protection and management, while at nearby Placid Lakes Estates (PLE), the population declined precipitously due to suburban development. By the onset of our sampling in 2000, birds in PLE were already less heterozygous, more inbred, and on average more related than birds in ABS. No significant changes occurred in heterozygosity or inbreeding across the 8‐year sampling interval, but average relatedness among individuals decreased in PLE, thus by 2008 average relatedness did not differ between sites. PLE harbored a similar proportion of short ROH but a greater proportion of long ROH than ABS, suggesting one continuous population of shared demographic history in the past, which is now experiencing more recent inbreeding. These results broadly uphold the predictions of simple population genetic models based on inferred effective population sizes and rates of immigration. Our study highlights how, in just a few generations, formerly continuous populations can diverge in heterozygosity and levels of inbreeding with severe local population decline despite ongoing gene flow.

     
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  7. A central goal of population genetics is to understand how genetic drift, natural selection, and gene flow shape allele frequencies through time. However, the actual processes underlying these changes—variation in individual survival, reproductive success, and movement—are often difficult to quantify. Fully understanding these processes requires the population pedigree, the set of relationships among all individuals in the population through time. Here, we use extensive pedigree and genomic information from a long-studied natural population of Florida Scrub-Jays (Aphelocoma coerulescens) to directly characterize the relative roles of different evolutionary processes in shaping patterns of genetic variation through time. We performed gene dropping simulations to estimate individual genetic contributions to the population and model drift on the known pedigree. We found that observed allele frequency changes are generally well predicted by accounting for the different genetic contributions of founders. Our results show that the genetic contribution of recent immigrants is substantial, with some large allele frequency shifts that otherwise may have been attributed to selection actually due to gene flow. We identified a few SNPs under directional short-term selection after appropriately accounting for gene flow. Using models that account for changes in population size, we partitioned the proportion of variance in allele frequency change through time. Observed allele frequency changes are primarily due to variation in survival and reproductive success, with gene flow making a smaller contribution. This study provides one of the most complete descriptions of short-term evolutionary change in allele frequencies in a natural population to date.

     
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  8. Abstract

    We investigated the potential mechanisms driving habitat‐linked genetic divergence within a bird species endemic to a single 250‐km2island. The island scrub‐jay (Aphelocoma insularis) exhibits microgeographic divergence in bill morphology across pine–oak ecotones on Santa Cruz Island, California (USA), similar to adaptive differences described in mainland congeners over much larger geographic scales. To test whether individuals exhibit genetic differentiation related to habitat type and divergence in bill length, we genotyped over 3000 single nucleotide polymorphisms in 123 adult island scrub‐jay males from across Santa Cruz Island using restriction site‐associated DNA sequencing. Neutral landscape genomic analyses revealed that genome‐wide genetic differentiation was primarily related to geographic distance and differences in habitat composition. We also found 168 putatively adaptive loci associated with habitat type using multivariate redundancy analysis while controlling for spatial effects. Finally, two genome‐wide association analyses revealed a polygenic basis to variation in bill length with multiple loci detected in or near genes known to affect bill morphology in other birds. Our findings support the hypothesis that divergent selection at microgeographic scales can cause adaptive divergence in the presence of ongoing gene flow.

     
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