40 research outputs found

    Situs inversus totalis in a fetus with a deletion at 7q36.2 detected on microarray analysis

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    Laterality disorders are a heterogeneous group of disorders associated with maternal diseases (maternal IDDM), maternal exposures to teratogens (retinoic acid), chromosome abnormalities and single gene disorders (ZIC3 mutation). We report on a fetus with a submicroscopic deletion at 7q36.2 with right atrial isomerism (RAI). CASE: The mother was a 30y G4P1SA2L1 and the father was 35y. Both were healthy and non-consanguineous and their family history was non-contributory. They had a healthy son and daughter and had two miscarriages. MSS was negative. Detailed fetal U/S and echocardiography at 20w showed: RAI with ...postprin

    A Program for At-Risk High School Students Informed by Evolutionary Science

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    Improving the academic performance of at-risk high school students has proven difficult, often calling for an extended day, extended school year, and other expensive measures. Here we report the results of a program for at-risk 9th and 10th graders in Binghamton, New York, called the Regents Academy that takes place during the normal school day and year. The design of the program is informed by the evolutionary dynamics of cooperation and learning, in general and for our species as a unique product of biocultural evolution. Not only did the Regents Academy students outperform their comparison group in a randomized control design, but they performed on a par with the average high school student in Binghamton on state-mandated exams. All students can benefit from the social environment provided for at-risk students at the Regents Academy, which is within the reach of most public school districts

    Of mice and men: molecular genetics of congenital heart disease

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    The zebrafish model system in cardiovascular research: A tiny fish with mighty prospects

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    The zebrafish Danio rerio, a tropical freshwater fish, belongs to the family of cyprinidae, which in the last 30 years has developed into a very popular model organism for studies of embryonic development and human diseases. Initially the zebrafish species has been selected on the basis of its small size of approximately 3-5 cm, its transparency during development and its high fertility, qualities first identified by George Stresinger, the founding father of zebrafish research [1]. The ability to house thousands of small fishes and the ease of screening mutations in the translucent embryos made it feasible to perform large-scale forward genetic screens in a vertebrate model organism. The abundance of eggs obtained, approximately 200 eggs per female per week, is ideal for genetic and statistical analysis. The mutagenesis screens performed in the early 1990s have led to the identification of genes important in vertebrate organogenesis in an unbiased fashion [2-3]. Many of the isolated mutants have now been fully characterized and the mutated genes mapped, as the zebrafish genome sequencing completes. The knowledge derived has led to a better understanding of the underlying genetic networks governing vertebrate development. More sophisticated phenotype-based screens have since been developed to screen for mutations in defined biological processes [4]
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