208 research outputs found

    Using Critical Literacy to Explore Genetics and its Ethical, Legal, and Social Issues with In-Service Secondary Teachers

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    The described interdisciplinary course helped a mixed population of in-service secondary English and biology teacher-participants increase their genetics content knowledge and awareness of Ethical, Legal, and Social Implications (ELSI) that arose from discoveries and practices associated with the Human Genome Project. This was accomplished by applying a critical literacy approach that allows people develop cognitive skills such that they are able to “read the world” (Wink, 2004). The approach is one that permits readers to go beyond the literal text to examine what is present as well as what is missing as it relates to issues of equity and fairness. Becoming critically literate enabled these teacher-participants to challenge the subtle attitudes, values, and beliefs conveyed by a range of written and oral texts. The teacher-participants in this course improved their critical literacy skills by actively reading, critically writing about, and using evidence to support their conclusions about issues arising from advances in human genetics. A biologist, a linguist, and an educator collaboratively designed and taught the course. The personalized focus on the integration of thoughtful reading and writing in this class enhanced the teacher-participants' (n = 16) professional and intellectual development and will potentially improve learning in their biology and English classrooms in the future

    FLNC Gene Splice Mutations Cause Dilated\ua0Cardiomyopathy

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    OBJECTIVE: To identify novel dilated cardiomyopathy (DCM) causing genes, and to elucidate the pathological mechanism leading to DCM by utilizing zebrafish as a model organism. BACKGROUND: DCM, a major cause of heart failure, is frequently familial and caused by a genetic defect. However, only 50% of DCM cases can be attributed to a known DCM gene variant, motivating the ongoing search for novel disease genes. METHODS: We performed whole exome sequencing (WES) in two multigenerational Italian families and one US family with arrhythmogenic DCM without skeletal muscle defects, in whom prior genetic testing had been unrevealing. Pathogenic variants were sought by a combination of bioinformatic filtering and cosegregation testing among affected individuals within the families. We performed function assays and generated a zebrafish morpholino knockdown model. RESULTS: A novel filamin C gene splicing variant (FLNC c.7251+1 G>A) was identified by WES in all affected family members in the two Italian families. A separate novel splicing mutation (FLNC c.5669-1delG) was identified in the US family. Western blot analysis of cardiac heart tissue from an affected individual showed decreased FLNC protein, supporting a haploinsufficiency model of pathogenesis. To further analyze this model, a morpholino knockdown of the ortholog filamin Cb in zebrafish was created which resulted in abnormal cardiac function and ultrastructure. CONCLUSIONS: Using WES, we identified two novel FLNC splicing variants as the likely cause of DCM in three families. We provided protein expression and in vivo zebrafish data supporting haploinsufficiency as the pathogenic mechanism leading to DCM

    An RCT of dating matters:Effects on teen dating violence and relationship behaviors

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    Introduction Teen dating violence is a serious public health problem with few effective prevention strategies. This study examines whether the Dating Matters comprehensive prevention model, compared with a standard of care intervention, prevented negative relationship behaviors and promoted positive relationship behaviors. Study design This longitudinal, cluster-RCT compared the effectiveness of Dating Matters with standard of care across middle school. Standard of care was an evidence-based teen dating violence prevention curriculum (Safe Dates) implemented in eighth grade. Setting/participants Forty-six middle schools in high-risk urban neighborhoods in four U.S. cities were randomized. Schools lost to follow-up were replaced with new schools, which were independently randomized (71% school retention). Students were surveyed in fall and spring of sixth, seventh, and eighth grades (2012–2016). The analysis sample includes students from schools implementing Dating Matters or standard of care for >2 years who started sixth grade in the fall of 2012 or 2013 and had dated (N=2,349 students, mean age 12 years, 49% female, and 55% black, non-Hispanic, 28% Hispanic, 17% other). Intervention Dating Matters is a comprehensive, multicomponent prevention model including classroom-delivered programs for sixth to eighth graders, training for parents of sixth to eighth graders, educator training, a youth communications program, and local health department activities to assess capacity and track teen dating violence–related policy and data. Main outcome measures Self-reported teen dating violence perpetration and victimization, use of negative conflict resolution strategies, and positive relationship skills were examined as outcomes. Imputation and analyses were conducted in 2017. Results Latent panel models demonstrated significant program effects for three of four outcomes; Dating Matters students reported 8.43% lower teen dating violence perpetration, 9.78% lower teen dating violence victimization, and 5.52% lower use of negative conflict resolution strategies, on average across time points and cohorts, than standard of care students. There were no significant effects on positive relationship behaviors. Conclusions Dating Matters demonstrates comparative effectiveness, through middle school, for reducing unhealthy relationship behaviors, such as teen dating violence and use of negative conflict resolution strategies, relative to the standard of care intervention

    Spatial extent and isolation of marine artificial structures mediate fish density

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    Installations of artificial structures in coastal oceans create de facto habitat for marine life. These structures encompass wide varieties of physical characteristics, reflecting their multiple, diverse purposes and creating a need to understand which characteristics maximize fish habitat. Here, we test how physical characteristics – horizontal area, vertical relief, and spatial isolation – relate to fish density from echosounder surveys over artificial structures like concrete pipes, train boxcars, and ships purposely sunk to function as reefs. Echosounder mapping of 31 artificial reef structures and associated fish across a 200 km linear length of the continental shelf of North Carolina, USA, revealed that structures with greater horizontal area and vertical relief host higher fish densities than smaller, shorter structures. Artificial structure spatial arrangement also relates to fish density, as isolated structures are generally associated with greater localized fish densities than structures closer to one another. Patterns in the relationships between fish density and reef characteristics differed for schooling fish, as there was some evidence that reefs of intermediate area exhibited higher schooling fish density. These results suggest that intentional design and spatial arrangement of marine built structures like artificial reefs relates to and can be deliberately incorporated into siting and deployment decisions to enhance their role as fish habitat

    GETTING READY: RESULTS OF A RANDOMIZED TRIAL OF A RELATIONSHIP-FOCUSED INTERVENTION ON THE PARENT– INFANT RELATIONSHIP IN RURAL EARLY HEAD START

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    The purpose of this study is to investigate the effects of a relational intervention (the Getting Ready intervention) on parenting behaviors supporting the parent–infant relationship for families enrolled in Early Head Start home-based programming. Two-hundred thirty-four parents and their children participated in the randomized study, with 42% of parents reporting education of less than a high-school diploma. Brief, semistructured parent–child interaction tasks were videotaped every 4 months over a16-month intervention period. Observational codes of parent–infant relationship behaviors included quality of three parental behaviors: warmth and sensitivity, support for learning, and encouragement of autonomy; two appropriateness indicators: support for learning and guidance/directives; and one amount indicator: constructive behaviors. Parents who participated in the Getting Ready intervention demonstrated higher quality interactions with their children that included enhanced quality of warmth and sensitivity, and support for their children’s autonomy than did parents in the control group. They also were more likely to use appropriate directives with their children and more likely to demonstrate appropriate supports for their young children’s learning. Results indicate an added value of the Getting Ready intervention for Early Head Start home-based programming for families of infants and toddlers

    A review of cervical fractures and fracture-dislocations without head impacts sustained by restrained occupants

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    Crash injury reduction via lap-shoulder belt use has been well documented. Like any other interior car component, lap-shoulder belts may be related to injury in certain crashes. Relatively unknown is the fact that cervical fractures or fracture-dislocations to restrained front seat occupants occur where no head contact was evidenced by both medical records and car inspection. A review of the available literature on car crash injuries revealed more than 100 such cases. A review of the National Accident Severity Study (NASS) 80-88 file was also conducted, revealing more examples. Case capsule descriptions from the authors' files are also detailed along with examples of such injuries in infants and children in child restraints. However, cervical fractures or fracture dislocations are rare, as evidenced by the relatively few cases identified in the literature, in the author's files, and by an analysis of NASS 80-90 data that revealed a cervical spine injury frequency of only .4% at the AIS-3 level (Hueike, Morris, and Mackay 1992).Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/30429/1/0000050.pd

    Robust estimation of bacterial cell count from optical density

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    Optical density (OD) is widely used to estimate the density of cells in liquid culture, but cannot be compared between instruments without a standardized calibration protocol and is challenging to relate to actual cell count. We address this with an interlaboratory study comparing three simple, low-cost, and highly accessible OD calibration protocols across 244 laboratories, applied to eight strains of constitutive GFP-expressing E. coli. Based on our results, we recommend calibrating OD to estimated cell count using serial dilution of silica microspheres, which produces highly precise calibration (95.5% of residuals <1.2-fold), is easily assessed for quality control, also assesses instrument effective linear range, and can be combined with fluorescence calibration to obtain units of Molecules of Equivalent Fluorescein (MEFL) per cell, allowing direct comparison and data fusion with flow cytometry measurements: in our study, fluorescence per cell measurements showed only a 1.07-fold mean difference between plate reader and flow cytometry data

    Modifications of Titin Contribute to the Progression of Cardiomyopathy and Represent a Therapeutic Target for Treatment of Heart Failure

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    Titin is the largest human protein and an essential component of the cardiac sarcomere. With multiple immunoglobulin(Ig)-like domains that serve as molecular springs, titin contributes significantly to the passive tension, systolic function, and diastolic function of the heart. Mutations leading to early termination of titin are the most common genetic cause of dilated cardiomyopathy. Modifications of titin, which change protein length, and relative stiffness affect resting tension of the ventricle and are associated with acquired forms of heart failure. Transcriptional and post-translational changes that increase titin’s length and extensibility, making the sarcomere longer and softer, are associated with systolic dysfunction and left ventricular dilation. Modifications of titin that decrease its length and extensibility, making the sarcomere shorter and stiffer, are associated with diastolic dysfunction in animal models. There has been significant progress in understanding the mechanisms by which titin is modified. As molecular pathways that modify titin’s mechanical properties are elucidated, they represent therapeutic targets for treatment of both systolic and diastolic dysfunction. In this article, we review titin’s contribution to normal cardiac physiology, the pathophysiology of titin truncation variations leading to dilated cardiomyopathy, and transcriptional and post-translational modifications of titin. Emphasis is on how modification of titin can be utilized as a therapeutic target for treatment of heart failure
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