To better understand parental opinions regarding the diagnostic process and use of genetic testing to assess risk for autism spectrum disorders (ASDs) in the younger siblings of affected children in the Unites States, we conducted a survey of parents who had at least one child with ASD. A total of 162 surveys were completed anonymously using an Internet-based survey tool. The mean reported time to ASD diagnosis and age at diagnosis were 35.2 months and 56.6 months, respectively. Seventy-two percent of parents felt there was a delay in diagnosis. Most parents indicated they would want to pursue genetic testing if a test were available that could identify risk in a younger sibling (80%). Earlier evaluation/intervention, closer monitoring, and lessened anxiety were reasons cited for testing. Our survey indicates most parents would pursue genetic risk assessment testing in children at high risk for ASD.
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http://dx.doi.org/10.1177/0009922812466583 | DOI Listing |
Front Biosci (Landmark Ed)
January 2025
Department of Pathology, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41500 Larissa, Greece.
Background: Hypoxia-inducible factor 1 alpha (HIF-1α) and its related vascular endothelial growth factor (VEGF) may play a significant role in atherosclerosis and their targeting is a strategic approach that may affect multiple pathways influencing disease progression. This study aimed to perform a systematic review to reveal current evidence on the role of HIF-1α and VEGF immunophenotypes with other prognostic markers as potential biomarkers of atherosclerosis prognosis and treatment efficacy.
Methods: We performed a systematic review of the current literature to explore the role of HIF-1α and VEGF protein expression along with the relation to the prognosis and therapeutic strategies of atherosclerosis.
Front Biosci (Landmark Ed)
January 2025
School of Cardiovascular and Metabolic Medicine & Sciences, British Heart Foundation Centre of Research Excellence, King's College London, SE5 9NU London, UK.
Cardiovascular disease (CVD) is the most prevalent cause of mortality and morbidity in the Western world. A common underlying hallmark of CVD is the plaque-associated arterial thickening, termed atherosclerosis. Although the molecular mechanisms underlying the aetiology of atherosclerosis remain unknown, it is clear that both its development and progression are associated with significant changes in the pattern of DNA methylation within the vascular cell wall.
View Article and Find Full Text PDFBr J Hosp Med (Lond)
January 2025
The Cardiology Department of Shanxi Provincial People's Hospital, Shanxi Medical University, Taiyuan, Shanxi, China.
Research evidence has demonstrated a significant association between hypertrophic cardiomyopathy (HCM) and atrial fibrillation (AF), but the causality and pattern of this link remain unexplored. Therefore, this study investigated the causal relationship between HCM and AF using a two-sample and bidirectional Mendelian randomization (MR) approach. Additionally, this assessed the role of cardiovascular proteins (CPs) associated with cardiovascular diseases between HCM and AF by applying a two-step MR analysis.
View Article and Find Full Text PDFBr J Hosp Med (Lond)
January 2025
Department of Infectious Diseases, The First Affiliated Hospital of Soochow University, Suzhou, Jiangsu, China.
Epidemiological studies indicate that the involvement of the immune system in the pathogenesis of infections associated with chronic obstructive pulmonary disease (COPD), asthma, and interstitial lung disease (ILD) remains unclear. This study aims to assess the potential causal link between infections associated with COPD, asthma, or ILD and immune system function. We conducted a two-sample Mendelian randomization analysis using publicly available genome-wide association study (GWAS) datasets.
View Article and Find Full Text PDFAlcohol Clin Exp Res (Hoboken)
January 2025
Addiction Neuroscience, Department of Psychology and Indiana Alcohol Research Center, Indiana University Indianapolis, Indianapolis, Indiana, USA.
Background: The loss of a job or relationship are a couple of examples of unexpected reward loss. Life events, such as these can induce negative emotional reactions (e.g.
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