Abstract of Talk to CVSA on 6/24/2020; By: Richard G. Boles, M.D.
Cyclic Vomiting Syndrome (CVS) is defined by similar distinct episodes of nausea and vomiting, with reduced or absent manifestations between episodes. Generally considered to be a condition that is not well understood and difficult to treat, this is changing rapidly with the application of modern genetics. In this Medical Presentation, Dr. Boles discusses his findings regarding DNA sequencing in 42 of his patients with CVS. Mitochondrial/metabolic causes and success stories with treatment are highlighted in line with previous talks and articles he has authored. Building on a previous study revealing the RYR2 ion channel to be important in CVS, additional cases with genetic variants in RYR2 are presented as well as in genes encoding 3 other ion channels: CACNA1A, CACNA1S, and SCN4A, connecting CVS genetically to hemiplegic migraine and periodic paralysis. This introduces new therapies that have been successful in many CVS patients, including potassium and acetazolamide, as well as providing an answer as to why propranolol is sometimes successful in CVS, and which patients to treat with this old drug. Additionally, a new biological pathway leading to CVS is presented involving genes involved in peripheral nerve function, which provides an answer as to why and when to use amitriptyline in CVS, and connecting CVS genetically to the Charcot-Marie-Tooth disorders. Instead of distinct types of CVS, most patients appear to have aspects of 2 or 3 of the above pathways involved, making this a genetically complex disorder. The main messages of this talk are to support mitochondria with supplements, and to base drug treatment and dosing on results of DNA sequencing.
In this 1 hour presentation with the Cyclic Vomiting Syndrome Association titled “Treatment of Cyclic Vomiting Syndrome, Including Supplements and Medications”,Dr. Boles shares several cases from his practice to show how CVS-related pathways can be amendable to nutritional interventions, resulting in improved patient outcomes. This lecture also discusses specific products including SpectrumNeeds® and QNeeds® by NeuroNeeds® (neuroneeds.com).
Dr. Boles is a pediatrician who has been interested in treating CVS for 25 years, and has been a Medical Advisor of the Cyclic Vomiting Syndrome Association (CVSA) for 20 years. Trained as a geneticist at Yale, and following 20 years in academia, he now applies the latest in genetic testing for his patients in group and private practice settings. He is also a founder of NeuroNeeds LLC, its Chief Medical & Scientific Officer, as well as the principal creator of SpectrumNeeds®, a mitochondrial cocktail that he uses in the treatment of CVS. Please visit http://molecularmitomd.com/ for more information about Dr. Richard Boles and his work.
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