Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027497 (nausea)
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Hepatitis C is killing 350,000 persons per year worldwide, 60% of the cases being patients with genotype 1 (GT-1). The fixed-dose tablet combination of daclatasvir (30 mg)/asunaprevir (200 mg)/beclabuvir (75 mg), DCV-TRIO, is one of the latest drugs in the pipeline of interferon-free direct-acting antiviral hepatitis C virus (HCV) therapies. DCV-TRIO increases the genetic barrier to resistance by acting at the same time against three hepatitis C key viral proteins. Results from the UNITY 1, 2, 3 and 4 phase III clinical trials showed that DCV-TRIO exhibited high sustained virologic responses at 12 weeks (between 92% and 100% for HCV GT-1 treatment-naive patients). Furthermore, DCV-TRIO was well tolerated in all studies with reported adverse events (AEs) with an incidence of at least 10% mostly being headache, diarrhea, fatigue and nausea and few AE-related discontinuations. Further research should focus on more real-life data on DCV-TRIO and on developing a pill regimen that works on other HCV genotypes with high genetic barriers and that is available at a reduced cost.
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PMID:Daclatasvir, asunaprevir and beclabuvir fixed-dose combination for patients with genotype 1 chronic hepatitis C. 2986 45

The explosion in knowledge, technology, and clinical capabilities regarding genetics and genetic testing has expanded greatly in recent years, and these gains have rapidly been applied to individuals with autism spectrum disorder (ASD). However, most clinicians are unaware or confused in regards to whom to test, what tests to order, and how testing might alter management and improve outcomes. This review will address these issues. Research shows that ASD is highly genetic, and while monogenic cases are common, most patients have multiple genes interacting in disease pathogenesis. However, as genetics dictates disease risk, not outcomes, this does not exclude environmental factors. Clinically actionable genetics test results can be found across the phenotypically-heterogeneous ASD spectrum; thus recommendations are to test everyone. As ASD is also highly genetically heterogeneous, testing should address a wide range of variant types, including both large (historically detected by microarray) and small (detected by sequencing), at least across all genes (exome). Additional specialized testing important in ASD diagnostics includes fragile X, mitochondrial DNA, and pharmacogenetics; the latter often informative for which drug to order, at which dose. Recently, whole genome sequencing has emerged as a favorite since all of the above testing, and more, can be performed at a lower total cost than individual test orders. Trio (child plus parents) sequencing is often indicated, especially in more "severe" cases in order to find new (de novo) variants not present in either parent. Additionally, Angelman syndrome testing should be considered in appropriate cases. Current testing provides a precise diagnosis in many cases with ASD. Beyond diagnosis, genetic testing can oftentimes help elucidate potentially treatable risk factors that predispose the individual patient to develop disease. In this clinician's experience (RGB), this information leads to improved outcomes in as many as one-half of cases. Clinical improvement can occur in common associated ASD symptoms (attention, behavior, and anxiety) and/or in general systemtic symptoms (nausea, fatigue, pain), as demonstrated in brief case reports. Practical guidance is provided regarding assisting clinicians to choose the appropriate test(s) and laboratory, as well as how to get testing paid for. Recent cost reductions now allow for most families to benefit from genetic testing.
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PMID:State of the Art of Genetic Testing for Patients With Autism: A Practical Guide for Clinicians. 3244 38