Down syndrome (DS) is the most common autosomal aneuploidy and the leading cause of intellectual disability of genetic origin worldwide. It is identified as a syndrome in which the variability of its clinical manifestations and the severity of its phenotype have a multifactorial origin. Worldwide prevalence ranges between 1 per 700 live births and several factors that may be involved in the origin of DS have been proposed. Our objective was to describe updates regarding risk factors in the cytogenetic origin or cause of DS. We conducted a narrative review study in which a literature search was carried out from January to June 2022 in databases such as PubMed, EBSCO, Medigraphic, ClinicalKey, and meta-search engines such as Elsevier and Evidence Alerts. Only articles published in the last 10 years in English and Spanish were included. The search terms used were: Down syndrome, risk factors, prevention. Although DS is a very common chromosomal pathology worldwide, there is no single risk factor at the origin of meiotic or mitotic nondisjunction of chromosome 21, but rather each of the associated risk factors contributes to a greater or lesser degree to a cytogenetic predisposition in the etiology of trisomy 21. During the review it was identified that the main established risk factor associated with DS is still advanced maternal age (≥ 35 years).
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http://dx.doi.org/10.5281/zenodo.8316459 | DOI Listing |
J Eval Clin Pract
February 2025
Initiative for Slow Medicine, Berkeley, California, USA.
Appropriate patient reassurance is an essential feature of clinical practice. My recent experience as a patient, interpreted via my expertise as a health services researcher, led me to insights on ideal and suboptimal reassurance styles in the context of worrisome symptoms. Reassurance is complex: often poorly defined in the scientific literature, rarely rigorously studied, imperfectly understood, and requiring some adaptation to each patient situation.
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December 2024
Department of Neurology, HangZhou Third People's Hospital, Hangzhou, Zhejiang, China.
BACKGROUND This study aimed to analyze the risk factors of central nervous system (CNS) infection caused by reactivation of varicella zoster virus (VZV) and provide reference for the prevention and early diagnosis of VZV-associated CNS infection. MATERIAL AND METHODS A prospective study was conducted on 1030 patients with acute herpes zoster (HZ) admitted to our hospital from January 2021 to June 2023. According to clinical manifestations and auxiliary examinations, they were divided into HZ group of 990 patients and VZV-associated CNS infection group of 40 patients.
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December 2024
Department of Optometry, College of Applied Medical Sciences, King Saud University, Riyadh, 11451, Saudi Arabia.
Globally, the prevalence of coronary artery disease (CAD) is increasing, accounting for a third of all deaths worldwide including myocardial infarctions (MIs) which represent the most severe clinical manifestation of CAD and are among the most dangerous coronary events. Therefore, this study aims to assess the knowledge of symptoms and risk factors of MIs, as well as attitudes and beliefs regarding MIs and confidence in recognizing CAD symptoms in Riyadh, Saudi Arabia. A cross-sectional study was conducted among individuals living in Riyadh, Saudi Arabia between November 2023 and April 2024 to assess their knowledge and beliefs about CAD and MIs.
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December 2024
Postgraduate Program in Health and Nutrition, School of Nutrition, Federal University of Ouro Preto, Ouro Preto, 35400-000, Brazil.
Atherosclerotic vascular changes can begin during childhood, providing risk for cardiovascular disease (CVD) in adulthood. Identifiable risk factors such as dyslipidemia accelerate this process for some children. The apolipoprotein B (APOB) gene could help explain the inter-individual variability in lipid levels among young individuals and identify groups that require greater attention to prevent CVD.
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December 2024
Department of Gynecology and Obstetrics, Division of Reproductive Sciences & Women's Health Re-search, Johns Hopkins Medicine, Baltimore, MD, 21205, USA.
Pomegranate (Punica granatum) is a widely cultivated fruit historically recognized for its health benefits and is regarded as a nutritional powerhouse. Pomegranate has a unique composition of bioactive compounds including hydrolysable tannins, anthocyanins, and other polyphenolic components. Of those, punicalagin and its subsequent metabolites are the most extensively studied, demonstrating antioxidant, anti-inflammatory, anti-cancer, and anti-nociceptive activity.
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