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17 results for “Genetic disorders”
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Review ArticleOpen accessIn the keywordsA Review on Epidemiology and Thalassemia Distribution, in Relevance to United Arab Emirates PopulationPooja Shivappa, Grisilda Vidya Bernhardt, Manal Munir Mufti, Ayesha BanuThalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form or inadequate amount of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. The disorder results in large numbers of red blood cells being destroyed, which leads to anemia. Depending on the type of mutated globin, there are two … …OnLine Journal of Biological Sciences, Vol. 21, Issue 2 · 1 Jun 2021 · 7,570 accessesView PDFCite
Research ArticleOpen accessIn the abstractExplainability Aware Heterogeneous Temporal Graph Transformer for Automated Genetic Disorder Detection from Genomic DataPuvaneswari Subramaniapillai, Indirani Govindasamy, Revathy GurumurthyGenetic disorders affect millions worldwide, posing major challenges for accurate diagnosis and effective treatments. New developments in genomic technologies, especially Next-Generation Sequencing (NGS), have enhanced the classification of genetic modification and improved diagnostic abilities. Moreover, the Machine Learning (ML) and Deep Learning (DL) methods emerged as efficient tools for evaluating the intricate genomic data and determining the patterns, which can … …Journal of Computer Science, Vol. 22, Issue 11 · 14 Oct 2026 · 566 accessesView PDFCite
Research ArticleOpen accessIn the abstractAlpha Thalassemia Carrier Detection a Diagnostic ApproachH. R. Samruddhi, Anupama Hegde, Harsha Prasada L et al.Alpha-thalassemia is one of the most common single-gene disorders, and its carrier state often remains undetected due to nonspecific hematological findings. This study aimed to identify alpha-thalassemia carrier status among people being investigated for hemoglobinopathy in a tertiary care setting. A cross-sectional laboratory-based study was conducted from January 2023 to January 2024. Hemoglobin variant analysis reports by High Performance Liquid … …OnLine Journal of Biological Sciences, Vol. 26, Issue 3 · 22 Sep 2026 · 481 accessesView PDFCite
Review ArticleOpen accessIn the abstractResveratrol for Atherosclerosis: Potential MechanismsAnastasia Vladimirovna Poznyak, Sergey Kozlov, Gulalek A Babayeva et al.Cardiovascular disease is a big problem around the world. At the heart of most serious cardiovascular diseases is such a pathology as atherosclerosis. Atherosclerosis is a complex set of interactions between inflammation, oxidative stress, lipid disorders, and other molecular, genetic, and lifestyle factors. It is this complexity and multicomponent nature of atherogenesis that make the treatment of atherosclerosis a non-trivial … …OnLine Journal of Biological Sciences, Vol. 26, Issue 2 · 11 Aug 2026 · 605 accessesView PDFCite
Literature ReviewOpen accessIn the abstractIntracranial Atherosclerotic Disease: Treatment Potential and Diagnostic OpportunitiesAnastasia Vladimirovna Poznyak, Victoria Alexandrovna Khotina, Anton Yuvenalievich Postnov et al.Atherosclerosis, characterized by the accumulation of atherosclerotic plaques within large arteries, substantially increases the risk of cardiovascular events, including ischemic stroke. Intracranial atherosclerotic disease (ICAD) represents a particularly significant clinical threat given its strong association with ischemic stroke across multiple intracranial arterial territories. This review provides a comprehensive analysis of the pathogenesis, diagnosis, and management of intracranial atherosclerosis. Special attention … …OnLine Journal of Biological Sciences, Vol. 26, Issue 1 · 5 May 2026 · 1,093 accessesView PDFCite
Literature ReviewOpen accessIn the abstractPotential Therapies for Mitochondrial Diseases Caused by mtDNA MutationsAnastasia V. Poznyak, Nikolay A. Orekhov, Dmitry Felixovich Beloyartsev et al.Mitochondrial diseases, caused by mutations in mitochondrial DNA (mtDNA), present significant genetic and clinical complexities that challenge accurate diagnosis and treatment. This review examines the critical molecular mechanisms underlying these disorders, particularly the role of heteroplasmy, where mixtures of mutated and normal mtDNA influence disease severity, and the nuclear-mitochondrial DNA interactions that compound diagnostic and therapeutic challenges. The threshold effect, … …American Journal of Biochemistry and Biotechnology, Vol. 21, Issue 4 · 15 Feb 2026 · 1,735 accessesView PDFCite
Research ArticleOpen accessIn the abstractArduino Based IOT Platform for Remote Monitoring of Heart Attacks and Patients FallsManikandan Shanmugam, Monisha SinghInternet of things (IoT) is a networking concept that allows connection of various smart devices. This concept plays a huge role in the healthcare industry. The developed system is a working prototype for real-time monitoring of patient falls and heart attacks. The process of developing this system included an architecture, which was built using Arduino UNO and Arduino NANO along … …Journal of Computer Science, Vol. 14, Issue 4 · 30 Apr 2018 · 9,129 accessesView PDFCite
EditorialOpen accessIn the abstractChronic Visceral Pain and Functional DiseasesVictor V. ChabanA functional disorder is a medical condition that impairs the normal physiological function of organs without organic cause such as inflammation. The accumulation of abnormalities that limit body functions is a major risk factor for patients with functional disorders such as Irritable Bowel Syndrome (IBS), Chronic Pelvic Pain (CPP), Painful Bladder Syndrome (PBS) and others. Often, functional disorders co-morbid by … …International Journal of Research in Nursing, Vol. 8, Issue 1 · 21 Jun 2017 · 6,992 accessesView PDFCite
EditorialOpen accessIn the abstractBig Data and Parkinson’s Disease - from Understanding of Disease to Personalised MedicineYen F. Tai, Nicola PaveseThe advancement of information technology in recent years has generated a huge amount of datasets in all areas of scientific research. This has led to new opportunities to harness the 'Big Data' to improve our understanding of diseases - from investigating disease mechanisms to monitoring treatment responses. The Big Data approach is a data-driven and often hypothesis-free, way of studying … …Neuroscience International, Vol. 7, Issue 1 · 27 Jul 2016 · 7,755 accessesView PDFCite
EditorialOpen accessIn the abstractVisceral Pain: Basic Research Concepts and Therapeutic InterventionsVictor V. ChabanThe accumulation of nociceptive diseases that limit normal body functions is a major risk factor for a disability, and visceral pain is one of the most prevalent human health problems. Additionally, many pain-associated diseases are accompanied by the concomitant decline in cognitive and motor performance. The complex interplay and balance between diverse signal transduction mediators, genetic background and environmental factors … …International Journal of Research in Nursing, Vol. 6, Issue 2 · 26 Aug 2015 · 7,148 accessesView PDFCite