Board prep 4 @GeneticCouns students & @TheABMGG fellows. Led by clinical geneticist @dpique12 Monthly 📧 w/ board-style q's at https://xitter.cf/t.co/r7TJ7GJZRW
Joined December 2019
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StudyRare 🧬 retweeted
There's a great Metabolic Mystery surrounding our new 'Educational Image' - A 42-year-old woman was investigated for exercise intolerance. She had dilated cardiomyopathy identified and chronic kidney disease.
Click for the answer: doi.org/10.1002/jimd.12820
@studyrare
20%Storage disoder
22%Fatty acid ox defect
54%Mito disease
4%None of the above
54 votes • Final results StudyRare 🧬 retweeted
The tried and true acronym for propionic acid metabolism: VOMIT.
Valine, Odd chain fatty acids, Methionine, Isoleucine, and Threonine.
Credit the late Steve Goodman. Never forget.
StudyRare 🧬 retweeted
A 10 yr old ♂️ with congenital bilateral sensorineural deafness ,life-long history of seizures and recurrent syncope.
ECG done showed 👇
What is the diagnosis?
Treatment?
#MedTwitter #MedEd #FOAMed #MedX #CardioTwitter #Heart #Health #Clinical #Medical #genetic #Medicine
@IhabFathiSulima @AWallflower7 @ashwinrajenesh @AsudaniMarish
@ChefKarim02 @Chege_jrn @ChiomaDPatrick @Dr_MSU @TSM_Humanist @Sthanu5 @deepakdewda200 @neuralconsult @mendietaalex1 @EM_RESUS @MEmwanta @imedverse @MEmwanta @studyrare @DrSanjay277 @Mohammad1014660 🙏
StudyRare 🧬 retweeted
Finally changing my phone wallpaper now that I have passed boards!! Shout out to Daniel and Lynsey from @studyrare for emphasizing imprinting disorders and embryology 😔✊🏼 ...And yes, I really was extra enough to make this wallpaper so I would see it every. single. day 😂💀
StudyRare 🧬 retweeted
Galactosemia & Galactokinase deficiency can be easily confused. Here's how I remember the difference:
GalactoSEmia is more SErious & is a/w neonatal SEpsis🦠 & liver failure.
GalactoKINase is KINder & is a/w isolated Kataracts🕶️
#GeneChat
StudyRare 🧬 retweeted
Fascinating!!!
A patient with these physical features,presents with acute stroke and this eye presentation.
Hint low levels of micronutrients
What is the diagnosis and treatment?
#MedTwitter #MedEd #MedX #EURO2024 #MedEd #NEET #NEETPG #Clinical #England #Genetics @AaronGoodman33 @ashwinrajenesh @Sthanu5 @IhabFathiSulima @ChefKarim02 @ChiomaDPatrick @mendietaalex1 @neuralconsult @AWallflower7 @MEmwanta @Janetbirdope @DrCindyCooper @ArunInamadar
StudyRare 🧬 retweeted
Ever wondered how MR Spectroscopy (MRS) is acquired & how to interpret it? Have you ever come across funky looking zigzag graph with MRI & scratched your head?
If interested in learning BASICS of MRS, follow this 🧵
MRS for non-radiologists
#EmoryNCCTweetorials @MedTweetorials
StudyRare 🧬 retweeted
On #RareDiseaseDay2024 we’d argue that all our patients deserve a molecular diagnosis, but what if you can’t find one?!
Apple: podcasts.apple.com/gb/podcas…
SoundCloud: soundcloud.com/user-10900612…
Spotify: open.spotify.com/episode/6Y0…
#genetwitter #genomics @naifalmontashir
StudyRare 🧬 retweeted
It’s finally here, the third part of our Metabolic mysteries series and the compelling case of a mother who has suffered multiple miscarriages and two early neonatal deaths.
SoundCloud: soundcloud.com/user-10900612…
Apple: podcasts.apple.com/gb/podcas…
Spotify: open.spotify.com/episode/12W…
StudyRare 🧬 retweeted
All is not what it seems when a previously fit and well 2-year-old boy presented with new-onset episodes of spasmodic torticollis and dystonic arm posturing.
Find it on Soundcloud: soundcloud.com/user-10900612…
Apple: podcasts.apple.com/gb/podcas…
Spotify: open.spotify.com/episode/4Fu…
StudyRare 🧬 retweeted
Looking to brush off those Christmas cobwebs? Try your hand in our Metabolic Quiz: 5 clinical scenarios drawn from the case files of Gregory House M.D. all featuring IMD diagnoses.
Can you beat TV's surliest medic, and our editorial committee?
Click: soundcloud.com/user-10900612…
StudyRare 🧬 retweeted
Caring for a child with a 22q11 deletion? Did you know 1 in 100 could have TANGO2 deficiency disorder. An inborn error of metabolism associated with arrhythmia and rhabdomyolysis but curiously responsive to B5. #thinkrare @22qFamily @vcfs22q11 #22q11 @M4RareDiseases
In a year full of gene therapy stories, this podcast brought news about a simple, cheap and life changing intervention for families and children with TANGO2 deficiency.
Soundcloud: soundcloud.com/user-10900612…
Apple: podcasts.apple.com/gb/podcas…
Spotify: open.spotify.com/episode/6Wk…
StudyRare 🧬 retweeted
Pop quiz hot shot:
A previously well, 2yo boy presented with new-onset episodes of spasmodic torticollis and dystonic arm posturing. Brain showed symmetrical T2 and diffusion weighted hyperintensities as per image.
What are your thoughts regarding the diagnosis?
StudyRare 🧬 retweeted
Pop quiz, hot shot. A previously fit and well 29-year-old lady presents with confusion and ataxia 5 days after the birth of her baby. What do you do?!
@RJDLab @acog @MedscapeObGyn
doi.org/10.1002/jmd2.12388
StudyRare 🧬 retweeted
High school didn't teach you how to do your taxes, how to negotiate pay, or the value of creativity, but I bet all of you learned that THE MITOCHONDRIA IS THE POWERHOUSE OF THE CELL.
Let's talk about what you SHOULD have learned about the #mitochondria.
StudyRare 🧬 retweeted
What do you do after a "negative" exome? (no, not just send a genome)
Check out this paper from Wortmann et al discussing genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
doi.org/10.1002/jimd.12507
#exome #NGS #multiomics #openaccess
StudyRare 🧬 retweeted
Maternal ornithine transcarbamylase deficiency, a genetic condition associated with high maternal and neonatal mortality every clinician should know: A systematic review onlinelibrary.wiley.com/doi/…
