2,637 research outputs found

    144 The significance of complete pulmonary function test data in the respiratory exacerbation of cystic fibrosis

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    Explaining the Frequency of Alcohol Consumption in a Conflict Zone: Jews and Palestinians in Israel

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    Experiencing stress and exposure to terrorism may have an adverse effect on health risk behaviors. Few studies have examined alcohol use among adults living in Israel under chronic, stressful terrorism-related conditions. In this study, we examined the relationships of demographics, past stressful events, and terrorism exposure to the frequency of alcohol use and the mediating roles of depressive and post-traumatic stress disorder (PTSD) symptoms. We used three waves of data from a 2007–2008 nationally representative sample of Jewish and Palestinian adults in Israel. We assessed past stressful events, in addition to direct and indirect exposures to terrorism. Results indicated that past stressful events and exposure to terrorism were not directly associated with alcohol use, but were indirectly associated and mediated by depressive and PTSD symptomology. Mental health symptoms were differentially associated with alcohol use. More frequent drinking was mediated by higher levels of depression, including for women and Palestinians; however, PTSD symptom severity was related to less frequent drinking. Mental health may play a prominent role in the frequency of alcohol use among adults exposed to terrorism in Israel. Alcohol use, as a coping mechanism, may differ by demographic characteristics (gender and ethnicity) and psychological symptomology for adults living in a conflict zone in Israel

    Sylvia melanocephala Sardinian Warbler

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    The EBBA2 project was carried out by the EBCC network of partner organisations from 48 countries. In total, around 120,000 fieldworkers contributed data to the atlas, the great majority of them on a voluntary basis. As such this project constitutes one of the biggest citizen science projects on biodiversity ever. Data collection and analysis followed a rigorous scientific protocol, led by a team of researchers from ornithological institutes with many years of experience in atlas work. The huge fieldwork effort resulted in unprecedented geographical coverage for a biodiversity atlas in Europe, including all areas up to the Ural Mountains and the Caspian Sea that were not well covered for EBBA1. These data were mainly collected for the period lasting from 2013 to 2017.Main sponsor: MAVA - Fondation pour la Natur

    The unfolded protein response affects readthrough of premature termination codons

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    One-third of monogenic inherited diseases result from premature termination codons (PTCs). Readthrough of in-frame PTCs enables synthesis of full-length functional proteins. However, extended variability in the response to readthrough treatment is found among patients, which correlates with the level of nonsense transcripts. Here, we aimed to reveal cellular pathways affecting this inter-patient variability. We show that activation of the unfolded protein response (UPR) governs the response to readthrough treatment by regulating the levels of transcripts carrying PTCs. Quantitative proteomic analyses showed substantial differences in UPR activation between patients carrying PTCs, correlating with their response. We further found a significant inverse correlation between the UPR and nonsense-mediated mRNA decay (NMD), suggesting a feedback loop between these homeostatic pathways. We uncovered and characterized the mechanism underlying this NMD-UPR feedback loop, which augments both UPR activation and NMD attenuation. Importantly, this feedback loop enhances the response to readthrough treatment, highlighting its clinical importance. Altogether, our study demonstrates the importance of the UPR and its regulatory network for genetic diseases caused by PTCs and for cell homeostasis under normal conditions

    Cardiorespiratory Fitness, Alcohol Intake, and Metabolic Syndrome Incidence in Men

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    Purpose To prospectively examine the independent and joint effects of alcohol consumption and cardiorespiratory fitness on the incidence of metabolic syndrome in a cohort of men. Methods A prospective examination of 3,411 apparently healthy men at baseline, who came to the Cooper Clinic (Dallas, Texas) for at least 2 preventive visits (1979–2010). Primary exposure variables were cardiorespiratory fitness and alcohol intake; the outcome measure was metabolic syndrome (MetS) and the components thereof. Cox proportional hazard models were computed to assess the relationship between the exposure variables and the incidence of MetS while adjusting for confounders. Results Over a mean follow-up period of 9 years (SD=7.8), 276 men developed MetS. In multivariable analysis, a dose-response relationship was observed between increased levels of fitness and reduced MetS risk (moderate fitness: HR=0.60, 95%CI 0.43–0.82; high fitness: HR=0.49, 95%CI 0.35–0.69). When examining the independent effects of alcohol, light drinking increased the risk for MetS by 66% (HR=1.66, 95%CI 1.11–2.48). No statistically significant interaction effect was observed between alcohol and fitness in relation to MetS (P = 0.32). When assessing the relation between each exposure and the components of MetS, higher fitness consistently reduced the risk of all components; whereas lower alcohol intake reduced the risk of elevated glucose and blood pressure and increased the risk for low HDL-c. Conclusions Among this cohort of men, higher fitness levels reduced the risk for MetS and its components. The relation between alcohol intake levels and metabolic risk was more complex and not reflected when examining MetS as a whole

    374 18FDG-PET/CT in CF: correlation with both inflammatory markers and FEV1

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    Correction: A novel mutation of the calcium sensing receptor gene is associated with chronic pancreatitis in a family with heterozygous SPINK1 mutations

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    Abstract Background The role of mutations in the serine protease inhibitor Kazal type 1 (SPINK1) gene in chronic pancreatitis is still a matter of debate. Active SPINK1 is thought to antagonize activated trypsin. Cases of SPINK1 mutations, especially N34S, have been reported in a subset of patients with idiopathic chronic pancreatitis. However, the inheritance pattern is still unknown. Some cases with N34S heterozygosity have been reported with and without evidence for CP indicating neither an autosomal recessive nor dominant trait. Therefore SPINK1 mutations have been postulated to act as a disease modifier requiring additional mutations in a more complex genetic model. Familial hypocalciuric hypercalcemia (FHH) caused by heterozygous inactivating mutations in the calcium sensing receptor (CASR) gene is considered a benign disorder with elevated plasma calcium levels. Although hypercalcemia represents a risk factor for pancreatitis, increased rates of pancreatitis in patients with FHH have not been reported thus far. Methods We studied a family with a FHH-related hypercalcemia and chronic pancreatitis. DNA samples were analysed for mutations within the cationic trypsinogen (N29I, R122H) and SPINK1 (N34S) gene using melting curve analysis. Mutations within CASR gene were identified by DNA sequencing. Results A N34S SPINK1 mutation was found in all screened family members. However, only two family members developed chronic pancreatitis. These patients also had FHH caused by a novel, sporadic mutation in the CASR gene (518T>C) leading to an amino acid exchange (leucine->proline) in the extracellular domain of the CASR protein. Conclusion Mutations in the calcium sensing receptor gene might represent a novel as yet unidentified predisposing factor which may lead to an increased susceptibility for chronic pancreatitis. Moreover, this family analysis supports the hypothesis that SPINK1 mutations act as disease modifier and suggests an even more complex genetic model in SPINK1 related chronic pancreatitis.</p

    The Energetic Particle Detector (EPD) Investigation and the Energetic Ion Spectrometer (EIS) for the Magnetospheric Multiscale (MMS) Mission

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    Abstract The Energetic Particle Detector (EPD) Investigation is one of 5 fields-and-particles investigations on the Magnetospheric Multiscale (MMS) mission. MMS comprises 4 spacecraft flying in close formation in highly elliptical, near-Earth-equatorial orbits targeting understanding of the fundamental physics of the important physical process called magnetic reconnection using Earth’s magnetosphere as a plasma laboratory. EPD comprises two sensor types, the Energetic Ion Spectrometer (EIS) with one instrument on each of the 4 spacecraft, and the Fly’s Eye Energetic Particle Spectrometer (FEEPS) with 2 instruments on each of the 4 spacecraft. EIS measures energetic ion energy, angle and elemental compositional distributions from a required low energy limit of 20 keV for protons and 45 keV for oxygen ions, up to \u3e0.5 MeV (with capabilities to measure up to \u3e1 MeV). FEEPS measures instantaneous all sky images of energetic electrons from 25 keV to \u3e0.5 MeV, and also measures total ion energy distributions from 45 keV to \u3e0.5 MeV to be used in conjunction with EIS to measure all sky ion distributions. In this report we describe the EPD investigation and the details of the EIS sensor. Specifically we describe EPD-level science objectives, the science and measurement requirements, and the challenges that the EPD team had in meeting these requirements. Here we also describe the design and operation of the EIS instruments, their calibrated performances, and the EIS in-flight and ground operations. Blake et al. (The Flys Eye Energetic Particle Spectrometer (FEEPS) contribution to the Energetic Particle Detector (EPD) investigation of the Magnetospheric Magnetoscale (MMS) Mission, this issue) describe the design and operation of the FEEPS instruments, their calibrated performances, and the FEEPS in-flight and ground operations. The MMS spacecraft will launch in early 2015, and over its 2-year mission will provide comprehensive measurements of magnetic reconnection at Earth’s magnetopause during the 18 months that comprise orbital phase 1, and magnetic reconnection within Earth’s magnetotail during the about 6 months that comprise orbital phase 2

    Comparison of active vs. expectant management of the third stage of labor in women with low risk of postpartum hemorrhage: a randomized controlled trial

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    Objectives: To compare the ‘strictly’ active management protocol in women with low risk of postpartum hemorrhage using the expectant management protocol with respect to changes in hematologic parameters, uterotonics, blood transfusions, or additional interventions. Material and methods: A randomized controlled prospective trial in which 934 singleton parturients enrolled; 654 were randomly assigned to the active and mixed management groups. The primary outcome parameter was the reduction in hemoglobin concentrations due to delivery, and the secondary outcome parameters were changes in hemoglobin of more than 3 g/dL (ΔHb ≥ 3 g/dL), durations of the third stage of labor, need for additional uterotonic agents, blood transfusions, manual removal of the placenta, and surgical evacuation of retained products of conception. Results: The mean postpartum hemoglobin concentration was significantly higher (P = 0.04) in the active management group with a significantly lower reduction (P = 0.03). Falls of hemoglobin levels of more than 3 g/dL (ΔHb ≥ 3g/dL) were less common in the active management group though not significantly (P = 0.32). The mean duration of the third stage of labor was significantly (P &lt; 0.001) shorter in the active management group. There was no significant difference between the two groups with regard to the need for additional uterotonic agents, uterine atony, blood transfusion, manual removal of the placenta, surgical evacuation of retained products of conception, and prolonged third stage of labor. Conclusions: Although active management of the third stage of labor was associated with higher postpartum hemoglobin levels, it did not influence the risk of ‘severe postpartum hemorrhage’ in women with low risk of postpartum hemorrhage
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