NEONATAL Genetics: What you NEED to know at the BEDSIDE!!! скачать в хорошем качестве

NEONATAL Genetics: What you NEED to know at the BEDSIDE!!!

Clinically relevant for PATIENT CARE !! What can go WRONG with genes? What does DNA code for? What are EXAMPLES we see with these abnormal genes? What is an EXON? An intron? What is a translocation? An SNP? How do abnormalities in DNA present clinically? Why should we care if it's a a translocation or a micro-deletion or a triple repeat disease? What do these terms mean? In this video we cover what you NEED to KNOW about genes when taking care of a PATIENT! --------------------------------------------------------------------- Do you want extra Tala Talks education? A neonatal tip a week? Access to LIVE videos? Behind the scene members-only videos? Worksheets of the videos? Do you want to decide which videos we should be publishing next? If so- join our new (low-priced!) membership community! Join here:    / @talatalksnicu   Help us guide the future of this channel and get involved in our community! For PDF summaries of the videos, links to relevant articles (+ 50 free Multiple Choice Questions/ Answers and explanations!!), AND a bunch of other stuff, subscribe to our Neonatal Nuggets Newsletter here: https://talatalksnicu.substack.com/su... ---------------------------------------------------------------------- Please be sure to give us a like, comment about future topics, and subscribe to this channel to stay up to date on all things NICU! Also, click the notification bell after you subscribe to gain your weekly NICU knowledge as soon as it's loaded! --------------------------------------------------------------------- Dr. Tala is a board-certified neonatologist and has worked in busy level III and IV units for the past 17 years. She has won multiple teaching awards throughout her time as a neonatologist. ---------------------------------------------------------------------- References: Musunuru K, Grandinette SA, Wang X, Hudson TR, Briseno K, Berry AM, Hacker JL, Hsu A, Silverstein RA, Hille LT, Ogul AN, Robinson-Garvin NA, Small JC, McCague S, Burke SM, Wright CM, Bick S, Indurthi V, Sharma S, Jepperson M, Vakulskas CA, Collingwood M, Keogh K, Jacobi A, Sturgeon M, Brommel C, Schmaljohn E, Kurgan G, Osborne T, Zhang H, Kinney K, Rettig G, Barbosa CJ, Semple SC, Tam YK, Lutz C, George LA, Kleinstiver BP, Liu DR, Ng K, Kassim SH, Giannikopoulos P, Alameh MG, Urnov FD, Ahrens-Nicklas RC. Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease. N Engl J Med. 2025 May 15. doi: 10.1056/NEJMoa2504747. Senaratne TN, Saitta SC. Evaluating Genetic Disorders in the Neonate: The Role of Exome Sequencing in the NICU. Neoreviews. 2022 Dec 1;23(12):e829-e840. doi: 10.1542/neo.23-12-e829. PMID: 36450644. Mangla M, Nerakh G, Anne RP, Kaliappan A, Kaur H, Singla D. A Practical, Systematic Approach to Genetic Diagnosis in a Fetus or Neonate with Congenital Anomalies. Neoreviews. 2024 Sep 1;25(9):e537-e550. doi: 10.1542/neo.25-9-e537. PMID: 39217133. https://publications.aap.org/neorevie... ---------------------------------------------------------------------------- **TIMESTAMPS** 00:00 Intro 02:49 What are genes and chromosomes? 14:27 Genetic Errors ---------------------------------------------------------------------------- *Disclaimer*: This video is intended for educational purposes only and while we strive to give the most accurate information, errors may occur. Subsequently, this video should not be a replacement for medical advice.