50 research outputs found

    Groundwater Tracer Experiment (II) at Sand Ridge State Forest, Illinois

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    published or submitted for publicationis peer reviewedOpe

    A "random-walk" solute transport model for selected groundwater quality evaluations

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    "ISWS/BUL-65/81."Bibliography: p. 103.Enumeration continues from preceding title

    Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report.

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    We identified a PSEN1 (presenilin 1) mutation carrier from the world's largest autosomal dominant Alzheimer's disease kindred, who did not develop mild cognitive impairment until her seventies, three decades after the expected age of clinical onset. The individual had two copies of the APOE3 Christchurch (R136S) mutation, unusually high brain amyloid levels and limited tau and neurodegenerative measurements. Our findings have implications for the role of APOE in the pathogenesis, treatment and prevention of Alzheimer's disease

    Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

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    Aminoacyl tRNA synthetases (ARSs) link specific amino acids with their cognate transfer RNAs in a critical early step of protein translation. Mutations in ARSs have emerged as a cause of recessive, often complex neurological disease traits. Here we report an allelic series consisting of seven novel and two previously reported biallelic variants in valyl-tRNA synthetase (VARS) in ten patients with a developmental encephalopathy with microcephaly, often associated with early-onset epilepsy. In silico, in vitro, and yeast complementation assays demonstrate that the underlying pathomechanism of these mutations is most likely a loss of protein function. Zebrafish modeling accurately recapitulated some of the key neurological disease traits. These results provide both genetic and biological insights into neurodevelopmental disease and pave the way for further in-depth research on ARS related recessive disorders and precision therapies

    Parent-reported child appetite moderates relationships between child genetic obesity risk and parental feeding practices

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    BackgroundFood parenting practices are associated with child weight. Such associations may reflect the effects of parents' practices on children's food intake and weight. However, longitudinal, qualitative, and behavioral genetic evidence suggests these associations could, in some cases, reflect parents' response to children's genetic risk for obesity, an instance of gene–environment correlation. We tested for gene–environment correlations across multiple domains of food parenting practices and explored the role of parent-reported child appetite in these relationships.Materials and methodsData on relevant variables were available for N = 197 parent–child dyads (7.54 ± 2.67 years; 44.4% girls) participating in RESONANCE, an ongoing pediatric cohort study. Children's body mass index (BMI) polygenic risk score (PRS) were derived based on adult GWAS data. Parents reported on their feeding practices (Comprehensive Feeding Practices Questionnaire) and their child's eating behavior (Child Eating Behavior Questionnaire). Moderation effects of child eating behaviors on associations between child BMI PRS and parental feeding practices were examined, adjusting for relevant covariates.ResultsOf the 12 parental feeding practices, 2 were associated with child BMI PRS, namely, restriction for weight control (ÎČ = 0.182, p = 0.011) and teaching about nutrition (ÎČ = −0.217, p = 0.003). Moderation analyses demonstrated that when children had high genetic obesity risk and showed moderate/high (vs. low) food responsiveness, parents were more likely to restrict food intake to control weight.ConclusionOur results indicate that parents may adjust their feeding practices in response to a child's genetic propensity toward higher or lower bodyweight, and the adoption of food restriction to control weight may depend on parental perceptions of the child's appetite. Research using prospective data on child weight and appetite and food parenting from infancy is needed to further investigate how gene–environment relationships evolve through development

    Application of a method for comparing one-dimensional and two-dimensional models of a ground-water flow system

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    To evaluate the inability of a one-dimensional ground-water model to interact continuously with surrounding hydraulic head gradients, simulations using one-dimensional and two-dimensional ground-water flow models were compared. This approach used two types of models: flow-conserving one-and-two dimensional models, and one-dimensional and two-dimensional models designed to yield two-dimensional solutions. The hydraulic conductivities of controlling features were varied and model comparison was based on the travel times of marker particles. The solutions within each of the two model types compare reasonably well, but a three-dimensional solution is required to quantify the comparison

    A 60 Mev Electron Scattering Measurement Of The Nuclear Radii Of Aluminum, Copper, And Tungsten.

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    PhDNuclear physicsUniversity of Michigan, Horace H. Rackham School of Graduate Studieshttp://deepblue.lib.umich.edu/bitstream/2027.42/182460/2/5903946.pd
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