1,296 research outputs found

    The Relationship of Attention-Deficit/Hyperactivity Disorder With Posttraumatic Stress Disorder : A Two-Sample Mendelian Randomization and Population-Based Sibling Comparison Study

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    Background: Attention-deficit/hyperactivity disorder (ADHD) and posttraumatic stress disorder (PTSD) are associated, but it is unclear if this is a causal relationship or confounding. We used genetic analyses and sibling comparisons to clarify the direction of this relationship. Methods: Linkage disequilibrium score regression and 2-sample Mendelian randomization were used to test for genetic correlation (rg) and bidirectional causal effects using European ancestry genome-wide association studies of ADHD (20,183 cases and 35,191 controls) and 6 PTSD definitions (up to 320,369 individuals). Several additional variables were included in the analysis to verify the independence of the ADHD-PTSD relationship. In a population-based sibling comparison (N = 2,082,118 individuals), Cox regression models were fitted to account for time at risk, a range of sociodemographic factors, and unmeasured familial confounders (via sibling comparisons). Results: ADHD and PTSD had consistent rg (rg range, 0.43‚Äď0.52; p ‚ąí5). This result was not affected by heterogeneity, horizontal pleiotropy (Mendelian randomization Egger intercept = 4.34 √ó 10‚ąí4, p = .961), or other phenotypes and was consistent across PTSD datasets. However, we found no consistent associations between PTSD genetic liability and ADHD risk. Individuals diagnosed with ADHD were at a higher risk for developing PTSD than their undiagnosed sibling (hazard ratio = 2.37; 95% CI, 1.98‚Äď3.53). Conclusions: Our findings add novel evidence supporting the need for early and effective treatment of ADHD, as patients with this diagnosis are at significantly higher risk to develop PTSD later in life.</p

    Role of fetal magnetic resonance imaging in fetuses with congenital cytomegalovirus infection: multicenter study

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    Objective: To investigate the role of fetal brain magnetic resonance imaging (MRI) in detecting associated anomalies in fetuses with congenital cytomegalovirus (CMV) infection and normal neurosonography. Methods: This was a multicenter, retrospective cohort study of patients examined between 2012 and 2021 in 11 referral fetal medicine centers in Italy. Inclusion criteria were fetuses with congenital CMV infection diagnosed by polymerase chain reaction analysis of amniotic fluid, pregnancies that underwent detailed multiplanar ultrasound assessment of the fetal brain as recommended by the International Society of Ultrasound in Obstetrics and Gynecology, maternal age ‚Č•‚ÄČ18‚ÄČyears, normal fetal karyotype and MRI performed within 3‚ÄČweeks after the last ultrasound examination. The primary outcome was the rate of central nervous system (CNS) anomalies detected exclusively on MRI and confirmed after birth or autopsy in fetuses with a prenatal diagnosis of congenital CMV infection and normal neurosonography at diagnosis. Additional CNS anomalies were classified into anomalies of the ventricular and the periventricular zone, intracranial calcifications in the basal ganglia or germinal matrix, destructive encephalopathy in the white matter, malformations of cortical development, midline anomalies, posterior fossa anomalies and complex brain anomalies. We evaluated the relationship between the incidence of structural CNS malformations diagnosed exclusively on fetal MRI and a number of maternal and gestational characteristics. Univariate and multivariate logistic regression analyses were used to identify and adjust for potential independent predictors of the MRI diagnosis of fetal anomalies. Results: The analysis included 95 fetuses with a prenatal diagnosis of congenital CMV infection and normal neurosonography referred for prenatal MRI. The rate of structural anomalies detected exclusively at fetal MRI was 10.5% (10/95). When considering the type of anomaly, malformations of cortical development were detected on MRI in 40.0% (4/10) of fetuses, destructive encephalopathy in 20.0% (2/10), intracranial calcifications in the germinal matrix in 10.0% (1/10) and complex CNS anomalies in 30.0% (3/10). On multivariate logistic regression analysis, only CMV viral load in the amniotic fluid, expressed as a continuous variable (odds ratio (OR), 1.16 (95%‚ÄČCI, 1.02-1.21); P‚ÄČ=‚ÄČ0.02) or categorical variable (&gt;‚ÄČ100‚ÄČ000 copies/mL) (OR, 12.0 (95%‚ÄČCI, 1.2-124.7); P‚ÄČ=‚ÄČ0.04), was independently associated with the likelihood of detecting fetal anomalies on MRI. Associated anomalies were detected exclusively at birth and missed by both prenatal neurosonography and fetal MRI in 3.8% (3/80) of fetuses with congenital CMV infection. Conclusions: Fetal brain MRI can detect additional anomalies in a significant proportion of fetuses with congenital CMV infection and negative neurosonography. Viral load in the amniotic fluid was an independent predictor of the risk of associated anomalies in these fetuses. The findings of this study support a longitudinal evaluation using fetal MRI in congenital CMV infection, even in cases with negative neurosonography at diagnosis. ¬© 2022 International Society of Ultrasound in Obstetrics and Gynecology

    MYTHOS: Medium-Range Hybrid Low-Pollution FlexiFuel/Hydrogen Sustainable Engine

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    MYTHOS answers HORIZON-CL5-2022-D5-01-12 Call (i.e. Towards a silent and ultra-low local air pollution aircrafts) and proposes to develop a demonstrated innovative and disruptive design methodology for future short/medium range civil engines capable of using a wide range of liquid and gaseous fuels including SAFs thus aiming at fulfilling the objective of decarbonize civil aviation as foreseen by the ACARE SRIA Goals by 2050. To achieve these ambitious goals, the MYTHOS consortium develops and adopts a multidisciplinary multi-fidelity modelling approach for the characterization of the relevant engine components deploying the full power of the method of machine learning. The latter will lead through hidden-physics discovery to advance data-driven reduced models which will be embedded in a holistic tool for the prediction of the environmental footprint of the civil aviation of all speeds. The methodological concept of the MYTHOS project consists of six main steps. The first step (Step 1) is to define a realistic reference framework in terms of working conditions and design points in which the flexible-fuel engine technology based on bio-fuel and hydrogen have to work. Step 2 requires the definition of a model hierarchy for the engine critical components. In this phase, particular attention must be paid to the search for a good balance between the accuracy of the models and the computational effort required to ensure that both the constructive and structural aspects and the estimate of the polluting levels of the multi-fuel engine guarantee both acceptable computational costs and well-defined margins of uncertainty. In Step 3 the experimental validation of the of multi-fidelity simulations using SAF and H2 will take place. The new validated toolchain will reoptimize some selected points extracted from the Pareto front. The experimental campaign is also preparatory to Step 4, dedicated to using advanced machine learning and data mining techniques to build a data fusion process aimed at optimizing the critical parameters of the new models that characterize the forecast quality in the regimes of interest. Step 5 focuses on constructing advanced ROMs for the engine components and verifying these ROMs against both high-fidelity numerical and experimental results obtained in Step2 and Step 3. Finally, Step 6 encompasses the integration of engine components ROMs in a holistic framework that allows the performance assessment and feasibility analysis of flexifuel solutions for aeronautical propulsion

    PROMPT: Prospective Meta-analysis for Pessary Trials Study Protocol

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    OBJECTIVE: Preterm birth, defined as birth before 37 weeks of gestation, is a leading cause of perinatal and infant mortality throughout the world. Preterm birth is also associated with long-term neurological disabilities and other significant health issues in children. A short cervix in the second trimester has been noted to be one of the strongest predictors of subsequent spontaneous preterm birth in both singleton and multiple pregnancies. Some studies have shown that cervical support in the form of an Arabin pessary lowers the risk of preterm birth in women with a singleton gestation and short cervical length; however, other studies have conflicting results. Our objective was to form an international collaborative of planned or ongoing randomized trials of pessary in singleton and twin gestations with a short cervix. STUDY DESIGN: In November 2014, an international group of investigators, who had initiated or were planning randomized trials of pessary for pregnant people with a short cervix and singleton or twin gestation to prevent preterm birth, formed a collaboration to plan a prospective individual patient data (IPD) meta-analysis of randomized trials (PROspective Meta-analysis of Pessary Trials [PROMPT]). The PROMPT investigators agreed on meta-analysis IPD hypotheses for singletons and twins, eligibility criteria, and a set of core baseline and outcome measures. The primary outcome is a composite of fetal death or preterm delivery before 32 weeks\u27 gestation. Secondary outcomes include maternal and neonatal morbidities. The PROMPT protocol may be viewed as a written agreement among the study investigators who make up the PROMPT consortium (PROSPERO ID# CRD42018067740). RESULTS: Results will be published in phases as the individual participating studies are concluded and published. Results of the first phase of singleton and twin pessary trials are expected to be available in late 2022. Updates are planned as participating trials are completed and published. KEY POINTS: · Short cervical length predicts preterm birth.. · Results of prior cervical pessary trials are mixed.. · Meta-analysis of pessary trials protocol.

    Bleeding epulis gravidarum: what to evaluate?

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    INTRODUCTION: Hormonal changes during pregnancy may induce modifications in oral mucosa. Epulis gravidarum (EG) is an oral disease arising during pregnancy, usually regressing after delivery. A case of EG managed at our department is described and those previously reported in literature are reviewed in order to define EG clinical features for stratifying the risk of complications and the need of surgery during pregnancy as well as which factors should be considered more relevant in EG management. EVIDENCE ACQUISITION: Electronic databases (Medline, Embase, Web of Sciences, Scopus and Cochrane Library) were searched from inception of each databases until May 2021 to identify clinical studies on management of EG diagnosed during pregnancy. The aim of this review was to identify factors influencing the need and timing of surgical management. EVIDENCE SYNTHESIS: A woman with a triplet pregnancy suffering from EG, complicated by profuse bleeding, required Caesarean section (CS) given the triplet pregnancy and the impending preterm labor. The surgical removal of EG was not performed because it spontaneously regressed without consequences 40 days after delivery. Review analysis indicated that EG clinical management is dependent on types of symptoms and their severity. Multilinear regression analysis showed that operative management strategy was associated with bone loss on X-ray (t=4.23, P=0.003), while EG surgical treatment during pregnancy was associated with pain (t=-2.91, P=0.03). No significant differences were found in management strategy, according to pain (P=0.12), interference with mastication (P=0.98) and speech (P=0.36). A poor oral hygiene was described in 71% of patients as hypothetical trigger. CONCLUSIONS: EG management strategy depends on bleeding, pain and bone loss on X-ray. A multidisciplinary approach is useful to perform a rapid and appropriate diagnosis and to better evaluate pros and cons of surgery during pregnancy and following management

    Genetic diversity fuels gene discovery for tobacco and alcohol use

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    Tobacco and alcohol use are heritable behaviours associated with 15% and 5.3% of worldwide deaths, respectively, due largely to broad increased risk for disease and injury(1-4). These substances are used across the globe, yet genome-wide association studies have focused largely on individuals of European ancestries(5). Here we leveraged global genetic diversity across 3.4 million individuals from four major clines of global ancestry (approximately 21% non-European) to power the discovery and fine-mapping of genomic loci associated with tobacco and alcohol use, to inform function of these loci via ancestry-aware transcriptome-wide association studies, and to evaluate the genetic architecture and predictive power of polygenic risk within and across populations. We found that increases in sample size and genetic diversity improved locus identification and fine-mapping resolution, and that a large majority of the 3,823 associated variants (from 2,143 loci) showed consistent effect sizes across ancestry dimensions. However, polygenic risk scores developed in one ancestry performed poorly in others, highlighting the continued need to increase sample sizes of diverse ancestries to realize any potential benefit of polygenic prediction.Peer reviewe

    ‚ÄúYouTube‚ĄĘ as a source of information on placenta accreta: A quality analysis‚ÄĚ

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    Objective: To evaluate the quality of YouTube‚ĄĘ videos on placenta accreta and to investigate if they can be used as a reliable source of information. Methods: We queried YouTube‚ĄĘ with terms related to placenta accreta. Patient Education Materials Assessment Tool for audio-visual content (PEMAT A/V), Global Quality Score (GQS), DISCERN score and Misinformation tool were used to assess videos‚Äô quality content. Results: Sixty-four videos were suitable for the analyses. Of those, 42 (65.6%) and 22 (34.4%) were produces by healthcare works and others, respectively. The median PEMAT A/V Understandability and Actionability score was 75 and 66.7%, respectively. According to GQS, 31.2 and 45.3% videos were excellent or good and generally poor or poor, respectively. The median DISCERN score of section 1 was 27 (out of 40), of section 2 was 16 (out of 35) and of section 3 was 2 (out of 5). According to Misinformation tool, the worst described aspect was the one regarding the possible risk factor associated to placenta accreta. Performing the quality assessment according to video authoring entity, videos produced by healthcare workers harbored a higher quality content, relative to the others. Conclusions: Currently, the overall consideration of YouTube‚ĄĘ video content on placenta accreta is low. Societies should invest new sources in producing higher quality videos to provide a helpful tool for physician during the counselling with patients
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