3,871 research outputs found

    Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission.

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    Journal ArticleThe gene for spinocerebellar ataxia 7 (SCA7) includes a transcribed, translated CAG tract that is expanded in SCA7 patients. We have determined expansions in 73 individuals from 17 SCA7 kindreds and compared them with repeat lengths of 180 unaffected individuals. Subjects with abnormal expansions comprise 59 clinically affected individuals and 14 at-risk currently unaffected individuals predicted to carry the mutation by haplotype analysis. For expanded alleles, CAG repeat length correlates with disease progression and severity and correlates inversely with age of onset. Increased repeat lengths are seen in generational transmission of the disease allele, consistent with the pattern of clinical anticipation seen in these kindreds. Repeat lengths in expanded alleles show somatic mosaicism in leukocyte DNA, suggesting that these alleles are unstable within individuals as well as between generations. Although dynamic repeat expansions from paternal transmissions are greater than those from maternal transmissions, maternal transmission of disease is more common, suggesting germline or embryonic effects of the repeat expansion

    The health conditions and the health care consumption of the uninsured

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    This paper investigates the difference in the health conditions and the health care consumption of uninsured individuals as compared to individuals with private insurance, using a nationally representative data set of inpatient hospital admissions from the US. In line with the previous literature, our results indicate that uninsured individuals are, on average, in worse health conditions. However, if we compare individuals within the same diagnosis category, the uninsured are actually healthier, with a lower number of chronic conditions and a lower risk of mortality. This indicates that the uninsured are admitted to the hospital only for more serious conditions. In addition, our results show that uninsured individuals consume less health care. In particular, conditional on being admitted to a hospital and controlling for health conditions, the uninsured have lower total charges, fewer procedures, and a higher mortality rate

    The Effect of Shelter-in-Place Orders on Social Distancing and the Spread of the COVID-19 Pandemic: A Study of Texas

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    Objectives: We study how the state-wide shelter-in-place order affected social distancing and the number of cases and deaths in Texas. Methods: We use daily data at the county level. The COVID-19 cases and fatalities data are from the New York Times. Social distancing measures are from SafeGraph. Both data are retrieved from the Unfolded Studio website. The county-level COVID-related policy responses are from the National Association of Counties. We use an event-study design and regression analysis to estimate the effect of the state-wide shelter-in-place order on social distancing and the number of cases and deaths. Results: We find that the growth rate of cases and deaths is significantly lower during the policy period when the percentage of the population that stays at home is highest. The crucial question is whether the policy has a causal impact on the sheltering percentages. The fact that some counties in Texas adopted local restrictive policies well before the state-wide policy helps us address this question. We do not find evidence that this top-down restrictive policy increased the percentage of the population that exercised social distancing. Discussion: Shelter-in-place policies are more effective at the local level and should go along with efforts to inform and update the public about the potential consequences of the disease and its current state in their localities

    Stated benefits from air quality improvement through urban afforestation in an arid city – A contingent valuation in Mexicali, Baja California, Mexico

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    Cities in drylands are expected to experience increasing challenges when it comes to air pollution. Currently, concentrations of particulate matter in these cities frequently reach dangerous levels. Urban afforestation represents an alternative to increase human health in arid cities via air-filtering and dry deposition. By simulating a non-existing market through a contingent valuation protocol, this study estimates the willingness to contribute monetarily to an urban afforestation scenario in Mexicali -an arid city located at the US-Mexico border. We estimate an average annual willingness to pay (WTP) of (2019) USD 88 per household. Variations in WTP are associated with the respondent's perception of air quality and the presence of respiratory symptoms in the respondent's household. The smallest WTP (USD 75) is reported by those perceiving poor air quality in their neighborhood and with no household members affected by respiratory symptoms. Respondents perceiving good air quality and with at least one household member facing respiratory symptoms report a WTP of USD 99. The highest WTP represents around 0.8 % of the annual household income. This WTP, when extrapolated to and aggregated over the total number of households in Mexicali, justifies the implementation of an urban afforestation program supplying 30 thousand tree seedlings annually

    Constraints on the χ_(c1) versus χ_(c2) polarizations in proton-proton collisions at √s = 8 TeV

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    The polarizations of promptly produced χ_(c1) and χ_(c2) mesons are studied using data collected by the CMS experiment at the LHC, in proton-proton collisions at √s=8  TeV. The χ_c states are reconstructed via their radiative decays χ_c → J/ψγ, with the photons being measured through conversions to e⁺e⁻, which allows the two states to be well resolved. The polarizations are measured in the helicity frame, through the analysis of the χ_(c2) to χ_(c1) yield ratio as a function of the polar or azimuthal angle of the positive muon emitted in the J/ψ → μ⁺μ⁻ decay, in three bins of J/ψ transverse momentum. While no differences are seen between the two states in terms of azimuthal decay angle distributions, they are observed to have significantly different polar anisotropies. The measurement favors a scenario where at least one of the two states is strongly polarized along the helicity quantization axis, in agreement with nonrelativistic quantum chromodynamics predictions. This is the first measurement of significantly polarized quarkonia produced at high transverse momentum
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