25 articles for “Genetic Disorder”

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Research ArticleOpen accessIn the abstractUNUSUAL SPECTRUM OF GENETIC PATHOLOGIES AND NOVEL MUTATIONS IN PWS AND AS PATIENTS DETECTED BY A WIDE CLUSTER OF METHODSLivia Kotysova, Robert Petrovic, Jan ChandogaPrader-Willi and Angelman syndromes are clinically distinct neurodevelopmental genetic disorders that map to 15q11.2-q13 locus. The common phenotypes are attributable to loss of expression of parentally specific imprinted genes inside this region, where the gene function is dependent on parental origin. Initial diagnosis was proved for the years by methylation pattern analyses of the SNRPN exon 1/promoter region within the … …OnLine Journal of Biological Sciences, Vol. 14, Issue 3 · 12 Nov 2014 · 7,006 accessesView PDF Cite

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 PDF Cite

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 PDF Cite

EditorialOpen accessIn the abstractNeutrophil Extracellular Traps as Therapeutic Targets for Inflammatory DiseaseRory R. KoenenNeutrophilic granulocytes, or neutrophils are the most abundant circulating white blood cell and constitute a first line of defense against pathogens. They are characterized by a large polymorphic lobular nucleus and the presence of many secretory granules in their cytoplasm. Neutrophils are essential for a functional host defense, as is evidenced by the occurrence of severe infections in individuals with … …American Journal of Pharmacology and Toxicology, Vol. 9, Issue 4 · 25 Feb 2015 · 8,737 accessesView PDF Cite

Research ArticleOpen accessIn the abstractRapamycin Inhibits Cystogenesis by Cystic Epithelial Cells Derived from Human Autosomal Dominant Polycystic KidneysGerard Elberg, Teresa V. Lewis, Lijuan Chen, Martin A. TurmanAutosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic disorders and carries a high health burden since it progresses to renal failure in half of the afflicted individuals by the 6th decade of life. Currently, there is no effective treatment to slow the progression of ADPKD. Rapamycin, a drug most commonly used as an immunosuppressive agent … …American Journal of Pharmacology and Toxicology, Vol. 1, Issue 4 · 31 Dec 2006 · 7,101 accessesView PDF Cite