599 research outputs found
BDNF, Brain, and Regeneration: Insights from Zebrafish.
Zebrafish (Danio rerio) is a teleost fish widely accepted as a model organism for neuroscientific studies. The adults show common basic vertebrate brain structures, together with similar key neuroanatomical and neurochemical pathways of relevance to human diseases. However, the brain of adult zebrafish possesses, differently from mammals, intense neurogenic activity, which can be correlated with high regenerative properties. Brain derived neurotrophic factor (BDNF), a member of the neurotrophin family, has multiple roles in the brain, due also to the existence of several biologically active isoforms, that interact with different types of receptors. BDNF is well conserved in the vertebrate evolution, with the primary amino acid sequences of zebrafish and human BDNF being 91% identical. Here, we review the available literature regarding BDNF in the vertebrate brain and the potential involvement of BDNF in telencephalic regeneration after injury, with particular emphasis to the zebrafish. Finally, we highlight the potential of the zebrafish brain as a valuable model to add new insights on future BDNF studies
A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report
CluGene: A Bioinformatics Framework for the Identification of Co-Localized, Co-Expressed and Co-Regulated Genes Aimed at the Investigation of Transcriptional Regulatory Networks from High-Throughput Expression Data
The full understanding of the mechanisms underlying transcriptional regulatory networks requires unravelling of complex causal relationships. Genome high-throughput technologies produce a huge amount of information pertaining gene expression and regulation; however, the complexity of the available data is often overwhelming and tools are needed to extract and organize the relevant information. This work starts from the assumption that the observation of co-occurrent events (in particular co-localization, co-expression and co-regulation) may provide a powerful starting point to begin unravelling transcriptional regulatory networks. Co-expressed genes often imply shared functional pathways; co-expressed and functionally related genes are often co-localized, too; moreover, co-expressed and co-localized genes are also potential targets for co-regulation; finally, co-regulation seems more frequent for genes mapped to proximal chromosome regions. Despite the recognized importance of analysing co-occurrent events, no bioinformatics solution allowing the simultaneous analysis of co-expression, co-localization and co-regulation is currently available. Our work resulted in developing and valuating CluGene, a software providing tools to analyze multiple types of co-occurrences within a single interactive environment allowing the interactive investigation of combined co-expression, co-localization and co-regulation of genes. The use of CluGene will enhance the power of testing hypothesis and experimental approaches aimed at unravelling transcriptional regulatory networks. The software is freely available a
Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience
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Hepatitis B and C in Europe: an update from the Global Burden of Disease Study 2019
© 2023 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 license.Background
In 2016, the World Health Assembly adopted the resolution to eliminate viral hepatitis by 2030. This study aims to provide an overview of the burdens of hepatitis B virus (HBV) and hepatitis C virus (HCV) in Europe and their changes from 2010 to 2019 using estimates from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2019.
Methods
We used GBD 2019 estimates of the burden associated with HBV-related and HCV-related diseases: acute hepatitis, cirrhosis and other chronic liver diseases, and liver cancer. We report total numbers and age-standardised rates per 100 000 for mortality, prevalence, incidence, and disability-adjusted life-years (DALYs) from 2010 to 2019. For each HBV-related and HCV-related disease and each measure, we analysed temporal changes and percentage changes for the 2010–19 period.
Findings
In 2019, across all age groups, there were an estimated 2·08 million (95% uncertainty interval [UI] 1·66 to 2·54) incident cases of acute hepatitis B and 0·49 million (0·42 to 0·57) of hepatitis C in Europe. There were an estimated 8·24 million (7·56 to 8·88) prevalent cases of HBV-related cirrhosis and 11·87 million (9·77 to 14·41) of HCV-related cirrhosis, with 24·92 thousand (19·86 to 31·03) deaths due to HBV-related cirrhosis and 36·89 thousand (29·94 to 45·56) deaths due to HCV-related cirrhosis. Deaths were estimated at 9·00 thousand (6·88 to 11·62) due to HBV-related liver cancer and 23·07 thousand (18·95 to 27·31) due to HCV-related liver cancer. Between 2010 and 2019, the age-standardised incidence rate of acute hepatitis B decreased (–22·14% [95% UI –35·44 to –5·98]) as did its age-standardised mortality rate (–33·27% [–43·03 to –25·49]); the age-standardised prevalence rate (–20·60% [–22·09 to –19·10]) and mortality rate (–33·19% [–37·82 to –28·13]) of HBV-related cirrhosis also decreased in this time period. The age-standardised incidence rate of acute hepatitis C decreased by 3·24% (1·17 to 5·02) and its age-standardised mortality rate decreased by 35·73% (23·48 to 47·75) between 2010 and 2019; the age-standardised prevalence rate (–6·37% [–8·11 to –4·32]), incidence rate (–5·87% [–11·24 to –1·01]), and mortality rate (–11·11% [–16·54 to –5·53]) of HCV-related cirrhosis also decreased. No significant changes were observed in age-standardised rates of HBV-related and HCV-related liver cancer, although we observed a significant increase in numbers of cases of HCV-related liver cancer across all ages between 2010 and 2019 (16·41% [2·81 to 30·91] increase in prevalent cases). Substantial reductions in DALYs since 2010 were estimated for acute hepatitis B (–27·82% [–36·92 to –20·24]), acute hepatitis C (–27·07% [–15·97 to –39·34]), and HBV-related cirrhosis (–30·70% [–35·75 to –25·03]). A moderate reduction in DALYs was estimated for HCV-related cirrhosis (–6·19% [–0·19 to –12·57]). Only HCV-related liver cancer showed a significant increase in DALYs (10·37% [4·81–16·63]). Changes in age-standardised DALY rates closely resembled those observed for overall DALY counts, except for HCV-liver related cancer (–2·84% [–7·75 to 2·63]).
Interpretation
Although decreases in some HBV-related and HCV-related diseases were estimated between 2010 and 2019, HBV-related and HCV-related diseases are still associated with a high burden, highlighting the need for more intensive and coordinated interventions within European countries to reach the goal of elimination by 2030.Funding by Bill & Melinda Gates Foundation.info:eu-repo/semantics/publishedVersio
Is contrast enhancement needed for diagnostic prostate MRI?
Prostate Imaging Reporting and Data System version 2 (PI-RADS v2) provides clinical guidelines for multiparametric magnetic resonance imaging (mpMRI) [T2-weighted imaging (T2WI), diffusion-weighted imaging (DWI) and dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI)] of prostate. However, DCE-MRI seems to show a limited contribution in prostate cancer (PCa) detection and management. In our experience, DCE-MRI, did not show significant change in diagnostic performance in addition to DWI and T2WI [biparametric MRI (bpMRI)] which represent the predominant sequences to detect suspected lesions in peripheral and transitional zone (TZ). In this article we reviewed the role of DCE-MRI also indicating the potential contribute of bpMRI approach (T2WI and DWI) and lesion volume evaluation in the diagnosis and management of suspected PCa
Disability assessment using Google Maps
Objectives To evaluate the concordance between Google Maps application (GM ) and clinical practice measurements
of ambulatory function (e.g., Ambulation Score (AS) and respective Expanded Disability Status Scale (EDSS)) in people
with multiple sclerosis (pwMS).
Materials and methods This is a cross-sectional multicenter study. AS and EDSS were calculated using GM and routine
clinical methods; the correspondence between the two methods was assessed. A multinomial logistic model is investigated
which demographic (age, sex) and clinical features (e.g., disease subtype, fatigue, depression) might have influenced discrepancies
between the two methods.
Results Two hundred forty-three pwMS were included; discrepancies in AS and in EDDS assessments between GM and
routine clinical methods were found in 81/243 (33.3%) and 74/243 (30.4%) pwMS, respectively. Progressive phenotype (odds
ratio [OR] = 2.8; 95% confidence interval [CI] 1.1–7.11, p = 0.03), worse fatigue (OR = 1.03; 95% CI 1.01–1.06, p = 0.01),
and more severe depression (OR = 1.1; 95% CI 1.04–1.17, p = 0.002) were associated with discrepancies between GM
and routine clinical scoring.
Conclusion GM could easily be used in a real-life clinical setting to calculate the AS and the related EDSS scores. GM
should be considered for validation in further clinical studies
The homogeneous characterisation of Ariel host stars
The Ariel mission will characterise the chemical and thermal properties of the atmospheres of about a thousand exoplanets transiting their host star(s). The observation of such a large sample of planets will allow to deepen our understanding of planetary and atmospheric formation at the early stages, providing a truly representative picture of the chemical nature of exoplanets, and relating this directly to the type and chemical environment of the host star. Hence, the accurate and precise determination of the host star fundamental properties is essential to Ariel for drawing a comprehensive picture of the underlying essence of these planetary systems. We present here a structured approach for the characterisation of Ariel stars that accounts for the concepts of homogeneity and coherence among a large set of stellar parameters. We present here the studies and benchmark analyses we have been performing to determine robust stellar fundamental parameters, elemental abundances, activity indices, and stellar ages. In particular, we present results for the homogeneous estimation of the activity indices S and log (RHK') , and preliminary results for elemental abundances of Na, Al, Mg, Si, C, N. In addition, we analyse the variation of a planetary spectrum, obtained with Ariel, as a function of the uncertainty on the stellar effective temperature. Finally, we present our observational campaign for precisely and homogeneously characterising all Ariel stars in order to perform a meaningful choice of final targets before the mission launch
The state of health in the European Union (EU-27) in 2019: a systematic analysis for the Global Burden of Disease study 2019
Background: The European Union (EU) faces many health-related challenges. Burden of diseases information and the resulting trends over time are essential for health planning. This paper reports estimates of disease burden in the EU and individual 27 EU countries in 2019, and compares them with those in 2010.Methods: We used the Global Burden of Disease 2019 study estimates and 95% uncertainty intervals for the whole EU and each country to evaluate age-standardised death, years of life lost (YLLs), years lived with disability (YLDs) and disability-adjusted life years (DALYs) rates for Level 2 causes, as well as life expectancy and healthy life expectancy (HALE).Results:In 2019, the age-standardised death and DALY rates in the EU were 465.8 deaths and 20,251.0 DALYs per 100,000 inhabitants, respectively. Between 2010 and 2019, there were significant decreases in age-standardised death and YLL rates across EU countries. However, YLD rates remained mainly unchanged. The largest decreases in age-standardised DALY rates were observed for "HIV/AIDS and sexually transmitted diseases" and "transport injuries" (each -19%). "Diabetes and kidney diseases" showed a significant increase for age-standardised DALY rates across the EU (3.5%). In addition, "mental disorders" showed an increasing age-standardised YLL rate (14.5%).Conclusions: There was a clear trend towards improvement in the overall health status of the EU but with differences between countries. EU health policymakers need to address the burden of diseases, paying specific attention to causes such as mental disorders. There are many opportunities for mutual learning among otherwise similar countries with different patterns of disease
Enabling planetary science across light-years. Ariel Definition Study Report
Ariel, the Atmospheric Remote-sensing Infrared Exoplanet Large-survey, was adopted as the fourth medium-class mission in ESA's Cosmic Vision programme to be launched in 2029. During its 4-year mission, Ariel will study what exoplanets are made of, how they formed and how they evolve, by surveying a diverse sample of about 1000 extrasolar planets, simultaneously in visible and infrared wavelengths. It is the first mission dedicated to measuring the chemical composition and thermal structures of hundreds of transiting exoplanets, enabling planetary science far beyond the boundaries of the Solar System. The payload consists of an off-axis Cassegrain telescope (primary mirror 1100 mm x 730 mm ellipse) and two separate instruments (FGS and AIRS) covering simultaneously 0.5-7.8 micron spectral range. The satellite is best placed into an L2 orbit to maximise the thermal stability and the field of regard. The payload module is passively cooled via a series of V-Groove radiators; the detectors for the AIRS are the only items that require active cooling via an active Ne JT cooler. The Ariel payload is developed by a consortium of more than 50 institutes from 16 ESA countries, which include the UK, France, Italy, Belgium, Poland, Spain, Austria, Denmark, Ireland, Portugal, Czech Republic, Hungary, the Netherlands, Sweden, Norway, Estonia, and a NASA contribution
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