Inborn Errors of Metabolism made SUPER LOGICAL!!!! PART I
ฝัง
- เผยแพร่เมื่อ 12 ก.ค. 2024
- PKU? MSUD? OTC deficiency? IEMs CONFUSE everyone!!! But watch this video and fully UNDERSTAND them forever!! We go over the BASICS of IEMs and how they are caused by problems in enzymatic pathways- giving EXAMPLES at every step. What is an IEM?? What causes them? How are they inherited? How common are they?
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Dr. Tala is a board-certified neonatologist and has worked in busy level III and IV units for the past 15 years. She has won multiple teaching awards throughout her time as a neonatologist.
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References:
Fanaroff and Martin Neonatal-Perinatal Medicine
Fatih Ezgu, Chapter Seven - Inborn Errors of Metabolism,
Editor(s): Gregory S. Makowski, Advances in Clinical Chemistry, Elsevier, Volume 73, 2016, Pages 195-250, ISSN 0065-2423, ISBN 9780128046906
Ferreira CR, Rahman S, Keller M, Zschocke J; ICIMD Advisory Group. An international classification of inherited metabolic disorders (ICIMD). J Inherit Metab Dis. 2021 Jan;44(1):164-177. doi: 10.1002/jimd.12348. PMID: 33340416; PMCID: PMC9021760
www.otsuka.co.jp/en/nutraceut...
labpedia.net/lipids-total-lip...
www.otsuka.co.jp/en/nutraceut...
Häggström, Mikael (2014). "Medical gallery of Mikael Häggström 2014". WikiJournal of Medicine 1 (2). DOI:10.15347/wjm/2014.008. ISSN 2002-4436.
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faculty.cc.gatech.edu/~turk/b...
www.newbornscreening.info/vlc...
Datta AK, Ghosh T, Nayak K, Ghosh M. Menkes kinky hair disease: A case report. Cases J. 1, 1, 158. 2008. doi:10.1186/1757-1626-1-158. PMID 18801184
Uploaded a work by Sydney S. Gellis and Murray Feingold from Atlas of mental retardation syndromes; visual diagnosis of facies and physical findings with UploadWizard
www.frontiersin.org/files/Art...
Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America - Scientific Figure on ResearchGate. Available from: www.researchgate.net/figure/C... [accessed 20 Aug, 2023]
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**TIMESTAMPS**
00:25 What is an IEM?
15:11 How common are IEMs?
17:43 How are IEMs inherited?
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*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.
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Hi . Really appreciate your energy and dedication in making such complex matters simpler for the rest of us. Kudos to your hard work. Really look forward to all your “talks”.
Hello! Thank you so much for watching the videos and for taking the time to comment. Literally any energy we have is from lovely words like yours- so thank you thank you
Thank you Tala and Team for another great video! Sending love from Indonesia ❤
So happy you're watching from Indonesia! Thanks so much for your comment and for being here :)
Gat stuff Tala. As always, impeccable. Loved the Fanaroff, "the Bible of Neonatology " 😅.
Hahahah! It is the Bible!!! Heavy stuff this IEM!!
Well explained . Thank you
So glad you think so- thank you for taking the time to comment :)
Hi Tala & Team!
Thank you for all your hard work on these videos!
*If you're looking for more topics* I'd love to see a video on hemangiomas, pulmonary hemorrhage, osteopenia, NOWS/NAS, TORCH, VACTERL, or myelomeningocele!
You are amazing! Thank you again!
-Reese from Denver, CO
Oh these suggestions are amazing!! Thanks so much for sending such a well thought out comment! We didn’t have a couple down- but we are planning on a TORCH one soon/ and I’ll add others to the list. Thank YOU so much!
Excellent
Thank you so much!
Great 👍
Thank you! second one will be out soon :)
Thank you very much from Egypt 💐
HI! So glad you're still watching from Egypt- thanks for being here :)
Thank you very much , i am from jordan , i always watch yourv valuable videos
Shukran! So glad you’re here :)
Thank you, very helpful
So happy it was helpful- thank you so much for writing to us!
Hi Tala and team! Love your videos! Can you do a series or video on micropreemies / ELBW infants? :) they are so complex and a whole subset of the population.
Hi Lindsey! We SO need to do this- so much of what we do and really deserves its own set of videos. Thanks for the great suggestion!
Excellent × 3
Thank you so much! Love your comments :)
Hey Tala and team! The last time I was here was when I was giving my mid-residency exams and I remember asking for a video on this topic. I'm back here as I have exams coming up again and I was so trilled to see this video, even telling my sister how I love how you teach so well and that you made this video! You're my favorite teacher! God bless you all. OX
Oh yay!!!!! I’m so happy you came back- and yes we finally got around to IEM! I remember you suggesting them- convincingly! How is residency going? Have we convinced you to consider NICU?!!! Good luck in your exams- and thanks again!
@@TalaTalksNICU I just got done with my residency! preparing to become a consultant. It's going be very tough one. I really like intensive care and I like you so much! and I'm so sure if I were in your team I would be preparing to become a neonatologist!
Congratulations!!!!! You should def do NICU! No regrets seriously! Great job satisfaction, great people, great work life balance. Best place in medicine (I mean may be slightly biased!)
Nice explain
So glad you thought so! Thank you!
genetic metabolic disorders can be quite challenging and overwhelming to deal with.I
still have many questions and concerns even after listening to information about genetic metabolic disorders
Completely agree with you! So many questions- and honestly most of them are best answered by a specialist! We just keep trying to learn!
Dr tala i have asilly question why you choose neonatology from other subespicialities in pediatrics
Such a GREAT question! Never though I'd end in this specialty but realised how much I enjoyed my rotations. All the science, physiology, procedures, research and BABIES! Honestly, at this point, I don' understand how anyone could do anything else!!
❤
Thank you Havva!
first!
Yes!
I always skip IEM. it's confusing. After listening to this, eagerly waits for the 2nd part. IEM Protein defects you made ridiculously simple.
I’m with you!!! So many people enzymes and pathways and long names! It wasn’t until I started practicing that I kinda learnt what I actually need to know! Thank you so much for taking the time to watch it and to write in :)
Excellent
Thank you so much! Appreciate you being here!