194 research outputs found

    Mapping (dis)agreement in hydrologic projections

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    Hydrologic projections are of vital socio-economic importance. However, they are also prone to uncertainty. In order to establish a meaningful range of storylines to support water managers in decision making, we need to reveal the relevant sources of uncertainty. Here, we systematically and extensively investigate uncertainty in hydrologic projections for 605 basins throughout the contiguous US. We show that in the majority of the basins, the sign of change in average annual runoff and discharge timing for the period 2070–2100 compared to 1985–2008 differs among combinations of climate models, hydrologic models, and parameters. Mapping the results revealed that different sources of uncertainty dominate in different regions. Hydrologic model induced uncertainty in the sign of change in mean runoff was related to snow processes and aridity, whereas uncertainty in both mean runoff and discharge timing induced by the climate models was related to disagreement among the models regarding the change in precipitation. Overall, disagreement on the sign of change was more widespread for the mean runoff than for the discharge timing. The results demonstrate the need to define a wide range of quantitative hydrologic storylines, including parameter, hydrologic model, and climate model forcing uncertainty, to support water resource planning

    Morgagni's diaphragmatic hernia mimicking a severe congenital heart disease in a newborn: a case report

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    <p>Abstract</p> <p>Introduction</p> <p>Morgagni's congenital diaphragmatic defect is a rare malformation, the diagnosis of which, as in our case report, may be problematic. To the best of our knowledge, this is the first report of this kind of hernia presenting with signs and symptoms of severe cardiac malformation.</p> <p>Case presentation</p> <p>We report the case of a three-month-old Caucasian baby boy, who presented with heart failure and severe pulmonary hypertension. Compression of the heart by a bowel loop in the chest led to an incorrect diagnosis of congenital heart disease.</p> <p>Conclusions</p> <p>Even in this era of highly sophisticated diagnostic tools, a simple radiograph can provide sufficient information for a precise, rapid diagnosis.</p

    Characterizing wave- and current- induced bottom shear stress : U.S. middle Atlantic continental shelf

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    This paper is not subject to U.S. copyright. The definitive version was published in Continental Shelf Research 52 (2013): 73-86, doi:10.1016/j.csr.2012.10.012.Waves and currents create bottom shear stress, a force at the seabed that influences sediment texture distribution, micro-topography, habitat, and anthropogenic use. This paper presents a methodology for assessing the magnitude, variability, and driving mechanisms of bottom stress and resultant sediment mobility on regional scales using numerical model output. The analysis was applied to the Middle Atlantic Bight (MAB), off the U.S. East Coast, and identified a tidally-dominated shallow region with relatively high stress southeast of Massachusetts over Nantucket Shoals, where sediment mobility thresholds are exceeded over 50% of the time; a coastal band extending offshore to about 30 m water depth dominated by waves, where mobility occurs more than 20% of the time; and a quiescent low stress region southeast of Long Island, approximately coincident with an area of fine-grained sediments called the “Mud Patch”. The regional high in stress and mobility over Nantucket Shoals supports the hypothesis that fine grain sediment winnowed away in this region maintains the Mud Patch to the southwest. The analysis identified waves as the driving mechanism for stress throughout most of the MAB, excluding Nantucket Shoals and sheltered coastal bays where tides dominate; however, the relative dominance of low-frequency events varied regionally, and increased southward toward Cape Hatteras. The correlation between wave stress and local wind stress was lowest in the central MAB, indicating a relatively high contribution of swell to bottom stress in this area, rather than locally generated waves. Accurate prediction of the wave energy spectrum was critical to produce good estimates of bottom shear stress, which was sensitive to energy in the long period waves.P.S. Dalyander was supported by the U.S. Geological Survey Mendenhall Research Fellowship Program

    Testicular Dysgenesis Syndrome and the Estrogen Hypothesis: A Quantitative Meta-Analysis

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    BACKGROUND: Male reproductive tract abnormalities such as hypospadias and cryptorchidism, and testicular cancer have been proposed to comprise a common syndrome together with impaired spermatogenesis with a common etiology resulting from the disruption of gonadal development during fetal life, the testicular dysgenesis syndrome (TDS). The hypothesis that in utero exposure to estrogenic agents could induce these disorders was first proposed in 1993. The only quantitative summary estimate of the association between prenatal exposure to estrogenic agents and testicular cancer was published over 10 years ago, and other systematic reviews of the association between estrogenic compounds, other than the potent pharmaceutical estrogen diethylstilbestrol (DES), and TDS end points have remained inconclusive. OBJECTIVES: We conducted a quantitative meta-analysis of the association between the end points related to TDS and prenatal exposure to estrogenic agents. Inclusion in this analysis was based on mechanistic criteria, and the plausibility of an estrogen receptor (ER)-–mediated mode of action was specifically explored. RESULTS: We included in this meta-analysis eight studies investigating the etiology of hypospadias and/or cryptorchidism that had not been identified in previous systematic reviews. Four additional studies of pharmaceutical estrogens yielded a statistically significant updated summary estimate for testicular cancer. CONCLUSIONS: The doubling of the risk ratios for all three end points investigated after DES exposure is consistent with a shared etiology and the TDS hypothesis but does not constitute evidence of an estrogenic mode of action. Results of the subset analyses point to the existence of unidentified sources of heterogeneity between studies or within the study population

    Fine Mapping of the NRG1 Hirschsprung's Disease Locus

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    The primary pathology of Hirschsprung's disease (HSCR, colon aganglionosis) is the absence of ganglia in variable lengths of the hindgut, resulting in functional obstruction. HSCR is attributed to a failure of migration of the enteric ganglion precursors along the developing gut. RET is a key regulator of the development of the enteric nervous system (ENS) and the major HSCR-causing gene. Yet the reduced penetrance of RET DNA HSCR-associated variants together with the phenotypic variability suggest the involvement of additional genes in the disease. Through a genome-wide association study, we uncovered a ∼350 kb HSCR-associated region encompassing part of the neuregulin-1 gene (NRG1). To identify the causal NRG1 variants contributing to HSCR, we genotyped 243 SNPs variants on 343 ethnic Chinese HSCR patients and 359 controls. Genotype analysis coupled with imputation narrowed down the HSCR-associated region to 21 kb, with four of the most associated SNPs (rs10088313, rs10094655, rs4624987, and rs3884552) mapping to the NRG1 promoter. We investigated whether there was correlation between the genotype at the rs10088313 locus and the amount of NRG1 expressed in human gut tissues (40 patients and 21 controls) and found differences in expression as a function of genotype. We also found significant differences in NRG1 expression levels between diseased and control individuals bearing the same rs10088313 risk genotype. This indicates that the effects of NRG1 common variants are likely to depend on other alleles or epigenetic factors present in the patients and would account for the variability in the genetic predisposition to HSCR
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