36 research outputs found
Prediction of melanoma risk in a southern European population based on a weighted genetic risk score
Measuring impulsivity in greek adults: Psychometric properties of the barratt impulsiveness scale (BIS-11) and impulsive behavior scale (short version of UPPS-P)
Introduction: The aim of the present study was to validate the Barratt Impulsiveness Scale (BIS-11th version) scale as well as the short version of the Impulsive Behavior Scale (UPPS-P) in a population of Greek young adults. Secondly, we aimed at validating the BIS-11 in older adults. Methods: 167 (Group 1) university students completed the Greek version of the BIS-11 (BIS-11-G) and the UPPS (UPPS-P-G) scales. Additionally, BIS-11-G was also administered to 167 (Group 2) cognitively intact older adults, to identify whether it could be used to measure impulsivity in an older adult population. Results: Both scales had satisfactory internal reliability and test–retest reliability, as well as convergent validity in the young adult population. In regard to the factor structure, a principal component analysis (PCA) extracted two factors for the BIS-11-G in the young adult population and three factors in older adults, as well as three factors for the short UPPS-P-G in young adults. Conclusions: The BIS-11-G and the UPPS-P-G scales can be used to measure different aspects of impulsivity in the Greek population of different ages in research and clinical practice. © 2021 by the authors. Licensee MDPI, Basel, Switzerland
An Investigation of Working Memory Profile and Fluid Intelligence in Children With Neurodevelopmental Difficulties
The present study aims to evaluate the distinct patterns of working memory (WM) capacity of children with Developmental Language Disorder (DLD), High-functioning children with Autism Spectrum Disorder (ASD) and children with Down syndrome (DS). More specifically, the current study investigates the complex relationship of fluid intelligence and WM between 39 children with DLD, 20 H igh-functioning children with ASD, and 15 children with DS. All children were evaluated in different measures of Phonological Working Memory, Visual-spatial Working Memory whereas Fluid Intelligence was measured with Raven Progressive Matrices. The result analysis revealed a significant difference among the three groups, both among each function separately and the correlations among them, as well. The results revealed that the DLD groups and High-functioning ASD group exhibited a common picture or an overlap of performances in all Phonological and Visuo-spatial working memory measures, except Backward Digit Recall task. As for the DS group research findings revealed different and unique working memory patterns in comparison to DLD group and High-functioning ASD. Their differences have been studied and further conclusions have been drawn about the different patterns of working memory among the three clinical groups. The implications of these findings are discussed in light of support for learning. The common profile that characterize the two developmental conditions and the distinct pattern of working memory performance in DS group underlies the need for further research in the field. Copyright © 2022 Sofologi, Pliogou, Bonti, Efstratopoulou, Kougioumtzis, Papatzikis, Ntritsos, Moraitou and Papantoniou
A genome-wide scan for pleiotropy between bone mineral density and nonbone phenotypes
Osteoporosis is the most common metabolic bone disorder globally and is characterized by skeletal fragility and microarchitectural deterioration. Genetic pleiotropy occurs when a single genetic element is associated with more than one phenotype. We aimed to identify pleiotropic loci associated with bone mineral density (BMD) and nonbone phenotypes in genome-wide association studies. In the discovery stage, the NHGRI-EBI Catalog was searched for genome-wide significant associations (P value < 5 × 10-8), excluding bone-related phenotypes. SNiPA was used to identify proxies of the significantly associated single nucleotide polymorphisms (SNPs) (r2 = 1). We then assessed putative genetic associations of this set of SNPs with femoral neck (FN) and lumbar spine (LS) BMD data from the GEFOS Consortium. Pleiotropic variants were claimed at a false discovery rate < 1.4 × 10-3 for FN-BMD and < 1.5 × 10-3 for LS-BMD. Replication of these genetic markers was performed among more than 400 000 UK Biobank participants of European ancestry with available genetic and heel bone ultrasound data. In the discovery stage, 72 BMD-related pleiotropic SNPs were identified, and 12 SNPs located in 11 loci on 8 chromosomes were replicated in the UK Biobank. These SNPs were associated, in addition to BMD, with 14 different phenotypes. Most pleiotropic associations were exhibited by rs479844 (AP5B1, OVOL1 genes), which was associated with dermatological and allergic diseases, and rs4072037 (MUC1 gene), which was associated with magnesium levels and gastroenterological cancer. In conclusion, 12 BMD-related genome-wide significant SNPs showed pleiotropy with nonbone phenotypes. Pleiotropic associations can deepen the genetic understanding of bone-related diseases by identifying shared biological mechanisms with other diseases or traits
The Role of Digital Tools in the Timely Diagnosis and Prevention of Acute Exacerbations of COPD: A Comprehensive Review of the Literature
Chronic obstructive pulmonary disease (COPD) is a chronic inflammatory disease of the airways and lung parenchyma with multiple systemic manifestations. Exacerbations of COPD are important events during the course of the disease, as they are associated with increased mortality, severe impairment of health-related quality of life, accelerated decline in lung function, significant reduction in physical activity, and substantial economic burden. Telemedicine is the use of communication technologies to transmit medical data over short or long distances and to deliver healthcare services. The need to limit in-person appointments during the COVID-19 pandemic has caused a rapid increase in telemedicine services. In the present review of the literature covering published randomized controlled trials reporting results regarding the use of digital tools in acute exacerbations of COPD, we attempt to clarify the effectiveness of telemedicine for identifying, preventing, and reducing COPD exacerbations and improving other clinically relevant outcomes, while describing in detail the specific telemedicine interventions used. © 2022 by the authors. Licensee MDPI, Basel, Switzerland
Echocardiography versus computed tomography and cardiac magnetic resonance for the detection of left heart thrombosis: a systematic review and meta-analysis
Background: Accurate and reproducible diagnostic techniques are essential to detect left-sided cardiac thrombi [either in the left ventricle (LV) or in the left atrial appendage (LAA)] and to guide the onset and duration of antithrombotic treatment while minimizing the risk for thromboembolic and hemorrhagic events. Methods: We conducted a systematic review and meta-analysis aiming to compare the diagnostic performance of transthoracic echocardiography (TTE) vs. cardiac magnetic resonance (CMR) for the detection of LV thrombi, and transesophageal echocardiography (TEE) vs. computed tomography (CT) for the detection of LAA thrombi. Results: Six studies were included in the first meta-analysis (TTE vs. CMR for LV thrombosis). Pooled sensitivity and specificity values were 62% [95% confidence interval (CI), 37–81%] and 97% (95% CI, 94–99%). The shape of the hierarchical summary receiver operating characteristic (HSROC) curve and the area under the curve (AUC) of 0.96 suggested a high accuracy. Ten studies were included in the second meta-analysis (CT versus TEE for LAA thrombosis). The pooled values of sensitivity and specificity were 97% (95% CI, 77–100%) and 94% (95% CI, 87–98%). The pooled diagnostic odds ratio (DOR) was 500 (95% CI, 52–4810), and the pooled likelihood ratios (LR + and LR−) were 17% (95% CI, 7–40%) and 3% (95% CI, 0–28%). The shape of the HSROC curve and 0.99 AUC suggested a high accuracy of CT vs. TEE. Conclusions: TTE is a fair alternative to DE-CMR for the identification of LV thrombi, while CT has a good accuracy compared to TEE for the detection of LAA thrombosis. PROSPERO registration: CRD42020185842. © 2020, Springer-Verlag GmbH Germany, part of Springer Nature
Gender-specific estimates of COPD prevalence: a systematic review and meta-analysis
Georgios Ntritsos,1 Jacob Franek,2 Lazaros Belbasis,1 Maria A Christou,1 Georgios Markozannes,1 Pablo Altman,3 Robert Fogel,3 Tobias Sayre,2 Evangelia E Ntzani,1 Evangelos Evangelou1,4 1Clinical and Molecular Epidemiology Unit, Department of Hygiene and Epidemiology, School of Medicine, University of Ioannina, Ioannina, Greece; 2Doctor Evidence, Client Solutions, Santa Monica, CA, USA; 3Global Medical Affairs, Novartis Pharmaceuticals Corporation, East Hanover, NJ, USA; 4Department of Epidemiology and Biostatistics, Imperial College London, London, UK Rationale: COPD has been perceived as being a disease of older men. However, >7 million women are estimated to live with COPD in the USA alone. Despite a growing body of literature suggesting an increasing burden of COPD in women, the evidence is limited. Objectives: To assess and synthesize the available evidence among population-based epidemiologic studies and calculate the global prevalence of COPD in men and women. Materials and methods: A systematic review and meta-analysis reporting gender-specific prevalence of COPD was undertaken. Gender-specific prevalence estimates were abstracted from relevant studies. Associated patient characteristics as well as custom variables pertaining to the diagnostic method and other important epidemiologic covariates were also collected. A Bayesian random-effects meta-analysis was performed investigating gender-specific prevalence of COPD stratified by age, geography, calendar time, study setting, diagnostic method, and disease severity. Measurements and main results: Among 194 eligible studies, summary prevalence was 9.23% (95% credible interval [CrI]: 8.16%–10.36%) in men and 6.16% (95% CrI: 5.41%–6.95%) in women. Gender prevalences varied widely by the World Health Organization Global Burden of Disease subregions, with the highest female prevalence found in North America (8.07% vs 7.30%) and in participants in urban settings (13.03% vs 8.34%). Meta-regression indicated that age ≥40 and bronchodilator testing contributed most significantly to heterogeneity of prevalence estimates across studies. Conclusion: We conducted the largest ever systematic review and meta-analysis of global prevalence of COPD and the first large gender-specific review. These results will increase awareness of COPD as a critical woman’s health issue. Keywords: COPD, prevalence, meta-analysis, gender, age, systematic revie