Metabolic Disorders, Chapter 5, 2nd edition 2020

Inborn errors of metabolism are infrequent, but they are life-threatening. Early detection and awareness of symptoms within the very first few hours of clinical presentation may save the life of a child. For any child with unexplained vomiting, change in mental status, seizures, developmental delay, or loss of milestones, genetic and metabolic disorders must be in the differential diagnosis. All pediatricians must be familiar with the results of the newborn screening, which must be reported to them promptly, and must know the best next step for any abnormal result. Here is the link of the Pediatric Board Study Guide.
www.springer.com/us/book/9783...
www.amazon.com/Pediatric-Boar...

[@AHMEDYOUSEFMRCPCH]

Wonderful,concise,to the points,thanks so muck prof.

[@pediatricboardalastminuter1892]

You are welcome!

[@08Coolster]

Thank you for these lectures sir. May God bless you

[@pediatricboardalastminuter1892]

You are most welcome

[@sumathybalaji5252]

Very comprehensive presentation sir

[@syedafarrah1381]

Keep up the good work doctor, may the almighty help u in all ur achievements

[@pediatricboardalastminuter1892]

Thank you!

[@anitad991]

Phenomenal!!

[@omarabd-elaziz6475]

ربنا يجزى حضرتك كل خير

[@pediatricboardalastminuter1892]

Thank you!

[@ЭндокринологЭлбекМаматкулов]

Thanks for great job and helping.

[@pediatricboardalastminuter1892]

Happy to help

[@hudaayied2312]

شكرا دكتور وبارك الله فيك

[@pediatricboardalastminuter1892]

Thank you!

[@naveedhaider3112]

Thank you Dr. Osama

[@pediatricboardalastminuter1892]

Thank you!

[@ammar4882]

thanks for great lecture but a query if you don't mind. at the beginning you categorized MSUD as aminoacidopathay then you put it under organic acidemia, which is closer to truth?

[@bassemabuasy2235]

الله يكرمك ويبارك في حضرتك د. أسامة وإن شاء الله يكون صدقة جارية 🌹🌹

[@pediatricboardalastminuter1892]

You are welcome

[@marinasaif2306]

شرحك رائع جدا ....استمر ربنا يحفظك ...

[@nasreddineboucetta6362]

Thanks a lot, sir.

[@dr.namratatodurkar3154]

Fantastic explanation sir

[@pediatricboardalastminuter1892]

Thank you!

[@yasirmohammedali]

Hello & thanks for the videos

[@pediatricboardalastminuter1892]

Glad you like them!

[@muhammadibrahim5459]

Any update on upcoming edition Sir? Or should we stick with second edition for the time being please?

[@kishoresajjanraj]

Thank you for wonderful lecture.
Why is splenectomy contraindicated in Gaucher disease?

[@pediatricboardalastminuter1892]

Kishore Sajjanraj Hypersplenism is a frequent complication of Gaucher disease requiring splenectomy. A patient with Gaucher disease and severe hypersplenism was treated with partial splenic embolization to avoid the increased risk of serious infectious complications and deterioration of the disease associated with splenectomy. A first embolization (25% ablation) was performed at 4 years. Because of persisting abdominal discomfort, failure to thrive and signs of hypersplenism a second embolization (40-50% ablation) was performed 18 months later. Subsequently, the patient's health improved remarkably and 4 years later he achieved normal growth, maintains normal haematologic parameters, is free of symptoms and has no skeletal abnormalities. No serious infections have occurred. The size of the liver and the spleen has not changed appreciably. It appears that partial splenic embolization may be preferable to splenectomy in patients with Gaucher disease, especially in those of young age.

[@pediatricboardalastminuter1892]

Kishore Sajjanraj. Thank you. To avoid serious infections in young children. If associated with hypersplenism then Partial splenectomy with embolization.

[@MedicalBroadcast]

Nicely explained.

[@pediatricboardalastminuter1892]

Glad it was helpful!

[@anaselhaj3216]

Thanks a lot dr

[@pediatricboardalastminuter1892]

Welcome 😊

[@emanabdulbaqi9380]

Thank you sir for such comprehensive coverage.
Waiting for more.

[@pediatricboardalastminuter1892]

THANK YOU!

[@mohameddaahirmohamed5696]

Thank you so much Dr Osama❤

[@pediatricboardalastminuter1892]

Thank you!

[@shihaanmohammed8237]

May Allah bless you.

[@pediatricboardalastminuter1892]

Thank you!

[@sadiqamin3]

Where i can get this book

[@javediqball01]

Thanks a lot, sir.
Really helpful for rapid revision.

[@pediatricboardalastminuter1892]

Most welcome

[@dr.ibrahimmitwallypediatri2330]

excellent

[@pediatricboardalastminuter1892]

Thanks!

[@inaayanoor1]

I need info on beta defiacncy

[@desidocs3976]

Thank u sir
Please upload remaining chapters

[@pediatricboardalastminuter1892]

We will

[@pediatricboardalastminuter1892]

Thank you!

[@nadarana7847]

Nice

[@mohamedomar-gc4de]

رائع يا دكتور جدا رغم السرعة

[@pediatricboardalastminuter1892]

Thank you!

[@sandramilan3567]

You must be a genius

[@pediatricboardalastminuter1892]

So nice of you. Thank you!

[@kifahabdullah5104]

🌹🌹🌹 🌷🌷🌷 ❤❤❤ 😊😊😊

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Is there any chance to survive ??

[@hudaayied2312]

شكرا دكتور وجزاك الله خير

[@pediatricboardalastminuter1892]

Thank you!

[@nadarana7847]

Nice

[@pediatricboardalastminuter1892]

Thanks