Top Tweets for #ThinkMetabolic
🧬 Not just for toddlers and textbooks!
Inherited metabolic diseases can be diagnosed well into older age, sometimes even in the 80s & 90s.
Listen to the latest #JIMDPodcast with François Maillot & Ida Schwartz 🎧
🔗 https://t.co/klqHbFEcdz
#ThinkMetabolic #RareDiseases #IMD
If you think IMDs are child’s play, think again. Adult IMD services are growing rapidly and 40% of their patients were diagnosed as adults.
You won’t find rare until you think rare. #thinkmetabolic #raredisease
https://t.co/TyPPFiTPuD
A fit and well man in his 50s has a profound physical deterioration over half a year. The surprising answer is a treatable metabolic diagnosis. Check it out 👇
https://t.co/yt4CZQjQZ7
#thinkmetabolic #metabolicmystery
The Footprints podcast series looks at body systems and how IMD might impact them. It’s a simple way to consider how to approach assessment if you are asked to consider a metabolic differential or, for you’re a non-IMD doctor, it will hopefully encourage you to #thinkmetabolic
🎙️ 🫀 🧬 Footprints of IMD: Cardiovascular disease with Carlos Ferreira
Spotify: https://t.co/wVuUBs5pSk
Apple: https://t.co/5WkXpXXCh8
Soundcloud: https://t.co/uIjZ8YC4y7
or search for JIMD podcasts wherever you like to listen.
#Cardiology #cardiogenetics #cardiovascular
Interested in which IMDs involve the liver (it’s a lot) or just wondering when liver disease should make you #thinkmetabolic well check out this new podcast.
#gastrotwitter #livertwitter @Mayo_liverdoc @RobinKimMD @LiverDoc1 @JHepatology
The Footprints #podcast series continues with its second episode, featuring Dr David Cassiman explaining the associations of liver disease with inherited metabolic disease.
Apple: https://t.co/jWbjJDISTM
SoundCloud: https://t.co/9FYIQnSmVy)
#liverdisease #IEM #IMD #FOAMed
#thinkmetabolic
Another 'Metabolic Mystery'.
Would you like to see a journal agnostic 'Metabolic Mystery' podcast to share these fascinating tales?
https://t.co/mcM0HjpPP3
@CoughlinIi
Don’t miss ‘A Case of Maple Syrup Urine Disease Diagnosed in Adulthood’ https://t.co/asWoFStv8c a new case report by @BrownMedicine @MassGeneralNews and related Clinical Reflection in latest issue of AIMCC. @ACPinternists @American_Heart #openaccess
#thinkmetabolic
There are 'Metabolic Mysteries' shared in all manner of journals. Would you like to see a journal agnostic 'Metabolic Mystery' podcast to share these fascinating tales?
https://t.co/mcM0HjpPP3
@CoughlinIi
ILD + hepatosplenomegaly = consider Niemann-Pick disease
https://t.co/t4lIiqrd8t
#medtwitter
Acute presentations in early life fall into three broad camps and timing can be key in identifying aetiology. Ultimately, clinical teams need to consider the metabolic differential to make the diagnosis. #thinkmetabolic #neotwitter
Good to see Dr Hugh Lemonde of @EvelinaLondon delivering an important message about neonatal presentations of Inherited Metabolic Disease at @99nicu meeting in Lisbon. #thinkmetabolic
How would you approach a previous fit and well woman presenting with ataxia and confusion a few days after the birth of her first child? Sepsis? Or perhaps something else.
Timely diagnosis saves lives.
#thinkmetabolic @stemlyns
A new Metabolic Mystery! 🔎 🕵♂️
Dr Marley McNutt presents a postpartum patient presenting with ataxia and confusion.
Apple: https://t.co/ABc07p1jIH
Spotify: https://t.co/TlpmWqGt7F
Soundcloud: https://t.co/9ERCJbD1t7
@RJDLab #podcast #EMTwitter #Obstwitter
Biochemical findings that make you consider an IMD diagnosis. #thinkmetabolic
(I know there was a paper on this and I shall find it)
Useful pearl in his talk at #SIMD2023 by Dr. Nicola Longo: an unexpectedly low serum Cr should raise suspicion for a disorder of creatine biosynthesis.
Analogous to a relatively low BUN raising c/f a UCD.
Not just diseases of childhood. #thinkmetabolic
New #openaccess content in #JIMD Reports
Late-onset argininosuccinic aciduria in a 72-year-old man presenting with fatal hyperammonemia
Laurent Leuger, et al
https://t.co/iKjTjJCuuk
A 22 year old with a 3 year h/o worsening epilepsy (with just 3 GTC events <18yrs), 121 days in GICU, 12 different unsuccessful AEDs and an uncertain future is found to have a PDE mutation on WES and makes excellent progress on B6 monotherapy. #thinkmetabolic
Hope they were as interested at the end as they were at the beginning. Absolutely fantastic to have an audience keen to hear about metabolic medicine. #thinkmetabolic #PIER2018
@VitafloRDs @SalfordRoyalNHS So important that adult clinicians remember that new presentations occur in adults to. Up to us to keep reminding them. #thinkmetabolic #thinkammonia
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