Colonoscopic surveillance and screening for familial colorectal cancer: experience of a regional registry

Conference Theme: Challenges to specialists in the 21st centurypublished_or_final_versio

Genetic-guided screening programme for familial adenomatous polyposis: result of a regional registry

Conference Theme: Challenges to specialists in the 21st centurypublished_or_final_versio

Clinical significance of hepatic derangement in severe acute respiratory syndrome

Aim: Elevation of alanine aminotransferase (ALT) level is commonly seen among patients suffering from severe acute respiratory syndrome (SARS). We report the progression and clinical significance of liver derangement in a large cohort of SARS patient. Methods: Serial assay of serum ALT was followed in patients who fulfilled the WHO criteria of SARS. Those with elevated ALT were compared with those with normal liver functions for clinical outcome. Serology for hepatitis B virus (HBV) infection was checked. Adverse outcomes were defined as oxygen desaturation, need of intensive care unit (ICU) and mechanical ventilation and death. Results: Two hundred and ninety-four patients were included in this study. Seventy (24%) patients had elevated serum ALT on admission and 204 (69%) patients had elevated ALT during the subsequent course of illness. Using peak ALT >5×ULN as a cut-off and after adjusting for potential confounding factors, the odds ratio of peak ALT >5× ULN for oxygen desaturation was 3.24 (95%CI 1.23-8.59, P = 0.018), ICU care was 3.70 (95%CI 1.38-9.89, P = 0.009), mechanical ventilation was 6.64 (95%CI 2.22-19.81, P = 0.001) and death was 7.34 (95%CI 2.28-24.89, P = 0.001). Ninety-three percent of the survived patients had ALT levels normalized or were on the improving trend during follow-up. Chronic hepatitis B was not associated with worse clinical outcomes. Conclusion: Reactive hepatitis is a common complication of SARS-coronavirus infection. Those patients with severe hepatitis had worse clinical outcome. © 2005 The WJG Press and Elsevier Inc. All rights reserved.published_or_final_versio

Testing extensions to LCDM on small scales with forthcoming cosmic shear surveys

We investigate the constraining power of forthcoming Stage-IV weak lensing surveys (Euclid, LSST, and NGRST) for extensions to the LCDM model on small scales, via their impact on the cosmic shear power spectrum. We use high-resolution cosmological simulations to calculate how warm dark matter (WDM), self-interacting dark matter (SIDM) and a running of the spectral index affect the non-linear matter power spectrum, P(k), as a function of scale and redshift. We evaluate the cosmological constraining power using synthetic weak lensing observations derived from these power spectra and that take into account the anticipated source densities, shape noise and cosmic variance errors of upcoming surveys. We show that upcoming Stage-IV surveys will be able to place useful, independent constraints on both WDM models (ruling out models with a particle mass of 10 cm^2 g^-1) through their effects on the small-scale cosmic shear power spectrum. Similarly, they will be able to strongly constrain cosmologies with a running spectral index. Finally, we explore the error associated with the cosmic shear cross-spectrum between tomographic bins, finding that it can be significantly affected by Poisson noise (the standard assumption is that the Poisson noise cancels between tomographic bins). We provide a new analytic form for the error on the cross-spectrum which accurately captures this effect

Characteristics of transposable element exonization within human and mouse

Insertion of transposed elements within mammalian genes is thought to be an important contributor to mammalian evolution and speciation. Insertion of transposed elements into introns can lead to their activation as alternatively spliced cassette exons, an event called exonization. Elucidation of the evolutionary constraints that have shaped fixation of transposed elements within human and mouse protein coding genes and subsequent exonization is important for understanding of how the exonization process has affected transcriptome and proteome complexities. Here we show that exonization of transposed elements is biased towards the beginning of the coding sequence in both human and mouse genes. Analysis of single nucleotide polymorphisms (SNPs) revealed that exonization of transposed elements can be population-specific, implying that exonizations may enhance divergence and lead to speciation. SNP density analysis revealed differences between Alu and other transposed elements. Finally, we identified cases of primate-specific Alu elements that depend on RNA editing for their exonization. These results shed light on TE fixation and the exonization process within human and mouse genes.Comment: 11 pages, 4 figure

Nonradial and nonpolytropic astrophysical outflows IX. Modeling T Tauri jets with a low mass-accretion rate

Context: A large sample of T Tauri stars exhibits optical jets, approximately half of which rotate slowly, only at ten per cent of their breakup velocity. The disk-locking mechanism has been shown to be inefficient to explain this observational fact. Aims: We show that low mass accreting T Tauri stars may have a strong stellar jet component that can effectively brake the star to the observed rotation speed. Methods: By means of a nonlinear separation of the variables in the full set of the MHD equations we construct semi- analytical solutions describing the dynamics and topology of the stellar component of the jet that emerges from the corona of the star. Results: We analyze two typical solutions with the same mass loss rate but different magnetic lever arms and jet radii. The first solution with a long lever arm and a wide jet radius effectively brakes the star and can be applied to the visible jets of T Tauri stars, such as RY Tau. The second solution with a shorter lever arm and a very narrow jet radius may explain why similar stars, either Weak line T Tauri Stars (WTTS) or Classical T Tauri Stars (CTTS) do not all have visible jets. For instance, RY Tau itself seems to have different phases that probably depend on the activity of the star. Conclusions: First, stellar jets seem to be able to brake pre-main sequence stars with a low mass accreting rate. Second, jets may be visible only part time owing to changes in their boundary conditions. We also suggest a possible scenario for explaining the dichotomy between CTTS and WTTS, which rotate faster and do not have visible jets

Global, regional, and national comparative risk assessment of 79 behavioural, environmental and occupational, and metabolic risks or clusters of risks, 1990-2015: a systematic analysis for the Global Burden of Disease Study 2015

SummaryBackground The Global Burden of Diseases, Injuries, and Risk Factors Study 2015 provides an up-to-date synthesis of the evidence for risk factor exposure and the attributable burden of disease. By providing national and subnational assessments spanning the past 25 years, this study can inform debates on the importance of addressing risks in context. Methods We used the comparative risk assessment framework developed for previous iterations of the Global Burden of Disease Study to estimate attributable deaths, disability-adjusted life-years (DALYs), and trends in exposure by age group, sex, year, and geography for 79 behavioural, environmental and occupational, and metabolic risks or clusters of risks from 1990 to 2015. This study included 388 risk-outcome pairs that met World Cancer Research Fund-defined criteria for convincing or probable evidence. We extracted relative risk and exposure estimates from randomised controlled trials, cohorts, pooled cohorts, household surveys, census data, satellite data, and other sources. We used statistical models to pool data, adjust for bias, and incorporate covariates. We developed a metric that allows comparisons of exposure across risk factors—the summary exposure value. Using the counterfactual scenario of theoretical minimum risk level, we estimated the portion of deaths and DALYs that could be attributed to a given risk. We decomposed trends in attributable burden into contributions from population growth, population age structure, risk exposure, and risk-deleted cause-specific DALY rates. We characterised risk exposure in relation to a Socio-demographic Index (SDI). Findings Between 1990 and 2015, global exposure to unsafe sanitation, household air pollution, childhood underweight, childhood stunting, and smoking each decreased by more than 25%. Global exposure for several occupational risks, high body-mass index (BMI), and drug use increased by more than 25% over the same period. All risks jointly evaluated in 2015 accounted for 57·8% (95% CI 56·6–58·8) of global deaths and 41·2% (39·8–42·8) of DALYs. In 2015, the ten largest contributors to global DALYs among Level 3 risks were high systolic blood pressure (211·8 million [192·7 million to 231·1 million] global DALYs), smoking (148·6 million [134·2 million to 163·1 million]), high fasting plasma glucose (143·1 million [125·1 million to 163·5 million]), high BMI (120·1 million [83·8 million to 158·4 million]), childhood undernutrition (113·3 million [103·9 million to 123·4 million]), ambient particulate matter (103·1 million [90·8 million to 115·1 million]), high total cholesterol (88·7 million [74·6 million to 105·7 million]), household air pollution (85·6 million [66·7 million to 106·1 million]), alcohol use (85·0 million [77·2 million to 93·0 million]), and diets high in sodium (83·0 million [49·3 million to 127·5 million]). From 1990 to 2015, attributable DALYs declined for micronutrient deficiencies, childhood undernutrition, unsafe sanitation and water, and household air pollution; reductions in risk-deleted DALY rates rather than reductions in exposure drove these declines. Rising exposure contributed to notable increases in attributable DALYs from high BMI, high fasting plasma glucose, occupational carcinogens, and drug use. Environmental risks and childhood undernutrition declined steadily with SDI; low physical activity, high BMI, and high fasting plasma glucose increased with SDI. In 119 countries, metabolic risks, such as high BMI and fasting plasma glucose, contributed the most attributable DALYs in 2015. Regionally, smoking still ranked among the leading five risk factors for attributable DALYs in 109 countries; childhood underweight and unsafe sex remained primary drivers of early death and disability in much of sub-Saharan Africa. Interpretation Declines in some key environmental risks have contributed to declines in critical infectious diseases. Some risks appear to be invariant to SDI. Increasing risks, including high BMI, high fasting plasma glucose, drug use, and some occupational exposures, contribute to rising burden from some conditions, but also provide opportunities for intervention. Some highly preventable risks, such as smoking, remain major causes of attributable DALYs, even as exposure is declining. Public policy makers need to pay attention to the risks that are increasingly major contributors to global burden. Funding Bill & Melinda Gates Foundation

Measurements of the properties of Lambda_c(2595), Lambda_c(2625), Sigma_c(2455), and Sigma_c(2520) baryons

We report measurements of the resonance properties of Lambda_c(2595)+ and Lambda_c(2625)+ baryons in their decays to Lambda_c+ pi+ pi- as well as Sigma_c(2455)++,0 and Sigma_c(2520)++,0 baryons in their decays to Lambda_c+ pi+/- final states. These measurements are performed using data corresponding to 5.2/fb of integrated luminosity from ppbar collisions at sqrt(s) = 1.96 TeV, collected with the CDF II detector at the Fermilab Tevatron. Exploiting the largest available charmed baryon sample, we measure masses and decay widths with uncertainties comparable to the world averages for Sigma_c states, and significantly smaller uncertainties than the world averages for excited Lambda_c+ states.Comment: added one reference and one table, changed order of figures, 17 pages, 15 figure