Genome-wide scans of three independent sets of 90 Irish multiplex schizophrenia families and follow-up of selected regions in all families provides evidence for multiple susceptibility genes

From our linkage study of Irish families with a high density of schizophrenia, we have previously reported evidence for susceptibility genes in regions 5q21-31, 6p24-21, 8p22-21, and 10p15-p11. In this report, we describe the cumulative results from independent genome scans of three a priori random subsets of 90 families each, and from multipoint analysis of all 270 families in ten regions. Of these ten regions, three (13q32, 18p11-q11, and 18q22-23) did not generate scores above the empirical baseline pairwise scan results, and one (6q13-26) generated a weak signal. Six other regions produced more positive pairwise and multipoint results. They showed the following maximum multipoint H-LOD (heterogeneity LOD) and NPL scores: 2p14-13: 0.89 (P = 0.06) and 2.08 (P = 0.02), 4q24-32: 1.84 (P = 0.007) and 1.67 (P = 0.03), 5q21-31: 2.88 (P= 0.0007), and 2.65 (P = 0.002), 6p25-24: 2.13 (P = 0.005) and 3.59 (P = 0.0005), 6p23: 2.42 (P = 0.001) and 3.07 (P = 0.001), 8p22-21: 1.57 (P = 0.01) and 2.56 (P = 0.005), 10p15-11: 2.04 (P = 0.005) and 1.78 (P = 0.03). The degree of 'internal replication' across subsets differed, with 5q, 6p, and 8p being most consistent and 2p and 10p being least consistent. On 6p, the data suggested the presence of two susceptibility genes, in 6p25-24 and 6p23-22. Very few families were positive on more than one region, and little correlation between regions was evident, suggesting substantial locus heterogeneity. The levels of statistical significance were modest, as expected from loci contributing to complex traits. However, our internal replications, when considered along with the positive results obtained in multiple other samples, suggests that most of these six regions are likely to contain genes that influence liability to schizophrenia.

Predictions of survival up to 10 years after diagnosis for European women with breast cancer in 2000-2002

Few studies have addressed longer-term survival for breast cancer in European women. We have made predictions of 10-year survival for European women diagnosed with breast cancer in 2000-2002. Data for 114,312 adult women (15-99 years) diagnosed with a first primary malignant cancer of the breast during 2000-2002 were collected in the EUROCARE-4 study from 24 population-based cancer registries in 14 European countries. We estimated relative survival at 1, 5, and 10 years after diagnosis for women who were alive at some point during 2000-2002, using the period approach. We also estimated 10-year survival conditional on survival to 1 and 5 years after diagnosis. Ten-year survival exceeded 70% in most regions, but was only 54% in Eastern Europe, with the highest value in Northern Europe (about 75%). Ten-year survival conditional on survival for 1 year was 2-6% higher than 10-year survival in all European regions, and geographic differences were smaller. Ten-year survival for women who survived at least 5 years was 88% overall, with the lowest figure in Eastern Europe (79%) and the highest in the UK (91%). Women aged 50-69 years had higher overall survival than older and younger women (79%). Six cancer registries had adequate information on stage at diagnosis; in these jurisdictions, 10-year survival was 89% for local, 62% for regional and 10% for metastatic disease. Data on stage are not collected routinely or consistently, yet these data are essential for meaningful comparison of population-based survival, which provides vital information for improving breast cancer control. What's new? Policy-makers and health-care planners need accurate data on long-term survival to improve cancer control. This Europe-wide study of 10-year survival identified low survival in Eastern Europe for women with breast cancer in 2000-2002, and wide variation by age at diagnosis. Data on stage at diagnosis are crucial for meaningful comparison of population-based survival, and fundamental for improving breast cancer control, but our analyses confirmed that stage data are not collected routinely or consistently Copyright © 2012 UICC.

Acceleration of ions up to 20MeV/nucleon in the ultrashort, high-intensity regime

The measurements reported here provide scaling laws for the ion acceleration process in the regime of ultrashort (50 fs), ultrahigh contrast (10) and ultrahigh intensity (> 10W/cm ), never investigated previously. The scaling of the accelerated ion energies was studied by varying a number of parameters such as target thickness (down to 10nm), target material (C and Al) and laser light polar- ization (circular and linear) at 35° and normal laser incidence. A twofold increase in proton energy and an order of magnitude enhancement in ion flux have been observed over the investigated thickness range at 35° angle of incidence. Further- more, at normal laser incidence, measured peak proton energies of about 20 MeV are observed almost independently of the target thickness over a wide range (50nm- 10 µm). 1. © 2012 by Società Italiana di Fisica.

Picking up the Pieces: Self-Healing in reconfigurable networks

We consider the problem of self-healing in networks that are reconfigurable in the sense that they can change their topology during an attack. Our goal is to maintain connectivity in these networks, even in the presence of repeated adversarial node deletion, by carefully adding edges after each attack. We present a new algorithm, DASH, that provably ensures that: 1) the network stays connected even if an adversary deletes up to all nodes in the network; and 2) no node ever increases its degree by more than 2 log n, where n is the number of nodes initially in the network. DASH is fully distributed; adds new edges only among neighbors of deleted nodes; and has average latency and bandwidth costs that are at most logarithmic in n. DASH has these properties irrespective of the topology of the initial network, and is thus orthogonal and complementary to traditional topology- based approaches to defending against attack. We also prove lower-bounds showing that DASH is asymptotically optimal in terms of minimizing maximum degree increase over multiple attacks. Finally, we present empirical results on power-law graphs that show that DASH performs well in practice, and that it significantly outperforms naive algorithms in reducing maximum degree increase.

Fetal Umbilical Artery Doppler Pulsatility Index as a Predictor of Cardiovascular Risk Factors in Children - A Long-Term Follow Up Study

Abstract Objective To determine if high umbilical artery Doppler (UAD) pulsatility index (PI) is associated with cardio-vascular (CV) risk-factors in children at age 12 years. Methods We studied 195 children at age 12 years who had had in-utero UAD studies performed at 28 weeks gestation. The children were grouped according to whether their umbilical Doppler PI was high (indicating poor feto-placental circulation) or normal. At age 12 years we assessed CV risk factors, including anthropometric measures, blood pressure, pulse wave velocity (a measure of arterial compliance), cardio-respiratory fitness and homocysteine and cholesterol serum levels. Results Compared with children with a normal UAD PI (N=88), the children (N=107) with high UAD PI had higher resting pulse rate (p=0.04), higher pulse wave velocity (p=0.046), higher serum homocysteine levels (p=0.032) and reduced arterial compliance (7.58 v 8.50 m/sec, p=0.029) using univariate analysis. These differences were not present when adjusting for cofounders was modelled. Conclusion High PI on UAD testing in-utero may be associated with increased likelihood of some cardio-vascular risk factors at age 12-years but confounding variables may be as important. Our study raises possible long-term benefits of in-utero UAD measurements.

X-ray scattering from warm dense iron

We have carried out X-ray scattering experiments on iron foil samples that have been compressed and heated using laser-driven shocks created with the VULCAN laser system at the Rutherford-Appleton Laboratory. This is the highest Z element studied in such experiments so far and the first time scattering from warm dense iron has been reported. Because of the importance of iron in telluric planets, the work is relevant to studies of warm dense matter in planetary interiors. We report scattering results as well as shock breakout results that, in conjunction with hydrodynamic simulations, suggest the target has been compressed to a molten state at several 100 GPa pressure. Initial comparison with modelling suggests more work is needed to understand the structure factor of warm dense iron. (C) 2013 Published by Elsevier B.V.