Three dimensional extended i m aging in the prenatal diagnosisof Galen vein aneurism: a case report

Galen vein aneurism (GVA) corresponds to a vascular dilation of the sinus venous in central nervous system (CNS). GVA is a rare category of congenital anomalies with a high mortality in neonatal and pediatric life. Regular diagnostic methods consist of 2D ultrasound and transvaginal neurosonogram when possible. Arteriovenous malformation are a heterogeneous group of dilated deep vein anomalies of Galen system with abnormal communications of the mid line. It is presented in 1 : 250000 deliveries. Main complications include heart failure in the neonatal period, hydrocephalus, brain calcifications, encephalomalacia, cerebral atrophy, bleeding and neurological progressive compromise. We describe a case of GVA diagnosed at 38 wo. Fetal evaluation was performed using Accuvix V10 ultrasonographic equipment (Medison. Seoul-Korea). Cerebral images were obtained using Virtual Organ Computer-aided AnaLysis (VOCALTM , 3DXI, Medison Sonoview Pro, Seoul, Korea) with 30 degrees swept. The obtained volumes were analyzed in the postprocessor software 3DXI viewer and clinically correlated

Current oscillations in a metallic ring threaded by a time-dependent magnetic flux

We study a mesoscopic metallic ring threaded by a magnetic flux which varies linearly in time PhiM(t)=Phi t with a formalism based in Baym-Kadanoff-Keldysh non-equilibrium Green functions. We propose a method to calculate the Green functions in real space and we consider an experimental setup to investigate the dynamics of the ring by recourse to a transport experiment. This consists in a single lead connecting the ring to a particle reservoir. We show that different dynamical regimes are attained depending on the ratio hbar Phi/Phi0 W, being Phi0=h c/e and W, the bandwidth of the ring. For moderate lengths of the ring, a stationary regime is achieved for hbar Phi/Phi0 >W. In the opposite case with hbar Phi/Phi0 < W, the effect of Bloch oscillations driven by the induced electric field manifests itself in the transport properties of the system. In particular, we show that in this time-dependent regime a tunneling current oscillating in time with a period tau=2piPhi0/Phi can be measured in the lead. We also analyze the resistive effect introduced by inelastic scattering due to the coupling to the external reservoir.Comment: 17 pages, 13 figure

Hierarchical Neutrino Mass Matrices, CP violation and Leptogenesis

In this work we study examples of hierarchical neutrino mass matrices inspired by family symmetries, compatible with experiments on neutrino oscillations, and for which there is a connection among the low energy CP violation phase associated to neutrino oscillations, the phases appearing in the amplitude of neutrinoless double beta decay, and the phases relevant for leptogenesis. In particular, we determine the predictions from a texture based on an underlying SU(3) family symmetry together with a GUT symmetry, and a strong hierarchy for the masses of the heavy right handed Majorana masses. We also give some examples of inverted hierarchies of neutrino masses, which may be motivated in the context of U(1) family symmetries.Comment: 34 pages. Replaced with published version -typos, corrections and references adde

Adherence to medication before and after the use of a Drug-Dispensing System with usage control

The aim of the present work was to assess the adherence to medication from polymedicated patients before and after the use of a Drug-dispensing System with Usage Control (DDSUC) and compare the levels of the clinical parameters - blood pressure, postprandial glycemia, glycated hemoglobin, triglycerides and cholesterol. DDSUC consisted of a monthly drug-dispensing package, in the shape of a blister with a calendar. This quasi-experimental study was performed in a Basic Health Unit. Twenty four patients were selected to use DDSUC for 4 months. Medication adherence was assessed through Morisky-Green test. Among the participants of the study, 62.5% were women and the average age was 67 years old. Before the use of DDSUC, 83.3% of the patients were considered as "less adherent". After the use of the system, 100% were considered as "more adherent" (p < 0.01), the means of the systolic blood pressure decreased 23.7 mmHg (p=0.000), the diastolic blood pressure decreased 12.1 mmHg (p=0.004) and glycemia diminished 79.3 mg/dl (p=0.000). The use of DDSUC improved the adherence to medication and decreased the values of the clinical parameters, making patients safer when it comes to respecting the correct use of their medication.</p

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

Introduction: More than 70 common alleles are known to be involved in breast cancer (BC) susceptibility, and several exhibit significant heterogeneity in their associations with different BC subtypes. Although there are differences in the association patterns between BRCA1 and BRCA2 mutation carriers and the general population for several loci, no study has comprehensively evaluated the associations of all known BC susceptibility alleles with risk of BC subtypes in BRCA1 and BRCA2 carriers. Methods: We used data from 15,252 BRCA1 and 8,211 BRCA2 carriers to analyze the associations between approximately 200,000 genetic variants on the iCOGS array and risk of BC subtypes defined by estrogen receptor (ER), progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2) and triple-negative- (TN) status; morphologic subtypes; histological grade; and nodal involvement. Results: The estimated BC hazard ratios (HRs) for the 74 known BC alleles in BRCA1 carriers exhibited moderate correlations with the corresponding odds ratios from the general population. However, their associations with ER-positive BC in BRCA1 carriers were more consistent with the ER-positive as

Global, regional, and national under-5 mortality, adult mortality, age-specific mortality, and life expectancy, 1970–2016: a systematic analysis for the Global Burden of Disease Study 2016

BACKGROUND: Detailed assessments of mortality patterns, particularly age-specific mortality, represent a crucial input that enables health systems to target interventions to specific populations. Understanding how all-cause mortality has changed with respect to development status can identify exemplars for best practice. To accomplish this, the Global Burden of Diseases, Injuries, and Risk Factors Study 2016 (GBD 2016) estimated age-specific and sex-specific all-cause mortality between 1970 and 2016 for 195 countries and territories and at the subnational level for the five countries with a population greater than 200 million in 2016. METHODS: We have evaluated how well civil registration systems captured deaths using a set of demographic methods called death distribution methods for adults and from consideration of survey and census data for children younger than 5 years. We generated an overall assessment of completeness of registration of deaths by dividing registered deaths in each location-year by our estimate of all-age deaths generated from our overall estimation process. For 163 locations, including subnational units in countries with a population greater than 200 million with complete vital registration (VR) systems, our estimates were largely driven by the observed data, with corrections for small fluctuations in numbers and estimation for recent years where there were lags in data reporting (lags were variable by location, generally between 1 year and 6 years). For other locations, we took advantage of different data sources available to measure under-5 mortality rates (U5MR) using complete birth histories, summary birth histories, and incomplete VR with adjustments; we measured adult mortality rate (the probability of death in individuals aged 15-60 years) using adjusted incomplete VR, sibling histories, and household death recall. We used the U5MR and adult mortality rate, together with crude death rate due to HIV in the GBD model life table system, to estimate age-specific and sex-specific death rates for each location-year. Using various international databases, we identified fatal discontinuities, which we defined as increases in the death rate of more than one death per million, resulting from conflict and terrorism, natural disasters, major transport or technological accidents, and a subset of epidemic infectious diseases; these were added to estimates in the relevant years. In 47 countries with an identified peak adult prevalence for HIV/AIDS of more than 0·5% and where VR systems were less than 65% complete, we informed our estimates of age-sex-specific mortality using the Estimation and Projection Package (EPP)-Spectrum model fitted to national HIV/AIDS prevalence surveys and antenatal clinic serosurveillance systems. We estimated stillbirths, early neonatal, late neonatal, and childhood mortality using both survey and VR data in spatiotemporal Gaussian process regression models. We estimated abridged life tables for all location-years using age-specific death rates. We grouped locations into development quintiles based on the Socio-demographic Index (SDI) and analysed mortality trends by quintile. Using spline regression, we estimated the expected mortality rate for each age-sex group as a function of SDI. We identified countries with higher life expectancy than expected by comparing observed life expectancy to anticipated life expectancy on the basis of development status alone. FINDINGS: Completeness in the registration of deaths increased from 28% in 1970 to a peak of 45% in 2013; completeness was lower after 2013 because of lags in reporting. Total deaths in children younger than 5 years decreased from 1970 to 2016, and slower decreases occurred at ages 5-24 years. By contrast, numbers of adult deaths increased in each 5-year age bracket above the age of 25 years. The distribution of annualised rates of change in age-specific mortality rate differed over the period 2000 to 2016 compared with earlier decades: increasing annualised rates of change were less frequent, although rising annualised rates of change still occurred in some locations, particularly for adolescent and younger adult age groups. Rates of stillbirths and under-5 mortality both decreased globally from 1970. Evidence for global convergence of death rates was mixed; although the absolute difference between age-standardised death rates narrowed between countries at the lowest and highest levels of SDI, the ratio of these death rates-a measure of relative inequality-increased slightly. There was a strong shift between 1970 and 2016 toward higher life expectancy, most noticeably at higher levels of SDI. Among countries with populations greater than 1 million in 2016, life expectancy at birth was highest for women in Japan, at 86·9 years (95% UI 86·7-87·2), and for men in Singapore, at 81·3 years (78·8-83·7) in 2016. Male life expectancy was generally lower than female life expectancy between 1970 and 2016, an

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7×10-8, HR = 1.14, 95% CI: 1.09-1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4×10-8, HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4×10-8, HR = 1.20, 95% CI: 1.17-1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific associat

Global, regional, and national incidence, prevalence, and years lived with disability for 328 diseases and injuries for 195 countries, 1990–2016: a systematic analysis for the Global Burden of Disease Study 2016

As mortality rates decline, life expectancy increases, and populations age, non-fatal outcomes of diseases and injuries are becoming a larger component of the global burden of disease. The Global Burden of Diseases, Injuries, and Risk Factors Study 2016 (GBD 2016) provides a comprehensive assessment of prevalence, incidence, and years lived with disability (YLDs) for 328 causes in 195 countries and territories from 1990 to 2016

Erratum: Global, regional, and national comparative risk assessment of 84 behavioural, environmental and occupational, and metabolic risks or clusters of risks for 195 countries and territories, 1990–2017: a systematic analysis for the Global Burden of Disease Study 2017

Interpretation: By quantifying levels and trends in exposures to risk factors and the resulting disease burden, this assessment offers insight into where past policy and programme efforts might have been successful and highlights current priorities for public health action. Decreases in behavioural, environmental, and occupational risks have largely offset the effects of population growth and ageing, in relation to trends in absolute burden. Conversely, the combination of increasing metabolic risks and population ageing will probably continue to drive the increasing trends in non-communicable diseases at the global level, which presents both a public health challenge and opportunity. We see considerable spatiotemporal heterogeneity in levels of risk exposure and risk-attributable burden. Although levels of development underlie some of this heterogeneity, O/E ratios show risks for which countries are overperforming or underperforming relative to their level of development. As such, these ratios provide a benchmarking tool to help to focus local decision making. Our findings reinforce the importance of both risk exposure monitoring and epidemiological research to assess causal connections between risks and health outcomes, and they highlight the usefulness of the GBD study in synthesising data to draw comprehensive and robust conclusions that help to inform good policy and strategic health planning