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Пікірлер
@briechz99-999 19 күн бұрын
Super helpful video! Great job explaining this complex topic
@studyrare 19 күн бұрын
Thank you, Bri! Will pass this along to Sofia.
@aman_ankush Ай бұрын
Mind blowing video sir..thanku for such informative and easy animated video
@studyrare Ай бұрын
thank you for watching and for your comment!
@makennamay2703 2 ай бұрын
Very helpful! Thank you so much.
@studyrare 2 ай бұрын
Thank you, Makenna! I am glad to hear that you found this video helpful!
@juliafield9381 4 ай бұрын
Thank you so much for the video! I was just wondering if you could explain how the glutaryl coA forms gluatoconic acid and 3-OH-Glutaric acid?
@apputaaz6653 5 ай бұрын
Hi doctr i have 22 weeks pregnencyand my nuchal fold thickness is 6.6mm. Pls sugest me what i do.
@dilmiachinthika9891 8 ай бұрын
Hi doctor my nuchal fold is 5mm 21 weeks and 5 days it is normal or problem
@luche5228 9 ай бұрын
Thank you for this very informative video.
@studyrare 9 ай бұрын
No problem. Thank you for watching!
@kabitamaharjan8641 10 ай бұрын
Hi doctor I have 20w of pregnant, and my Nuchal fold thickness value is 5.6 does it normal? And doctor recommended to do Nipt test I’m waiting for the report.i’m in too tens...😢😢😢 plz doctor suggest me
@studyrare 10 ай бұрын
Hello, yes, the criteria for nuchal fold thickness changes with gestational age. At 20 weeks, the nuchal fold thickness is usually less than 6 mm. I would recommend following up with your OBGYN with any additional questions related to your pregnancy. Wishing you all the best! www.cuh.nhs.uk/patient-information/increased-nuchal-fold-nf/
@apputaaz6653 5 ай бұрын
Pls reply me how ur baby.my baby nf is 6.6mm.
@Metabolismo101 11 ай бұрын
Awesome!
@studyrare 11 ай бұрын
Thank you!
@carlyle8969 11 ай бұрын
Excellent video! Keep up the strong work!
@studyrare 11 ай бұрын
Thank you! I really appreciate it!
@duai7090 Жыл бұрын
Thank you
@studyrare 11 ай бұрын
You're welcome. Thank you for watching!
@zcombs5797 Жыл бұрын
Can you differentiate genetic vs Intoxication via metabolic labs alone or are genetic tests required to rule out intoxication
@razanalnajjar9112 Жыл бұрын
Thankyouuuu so much 😭🙌 you saved my life!
@dylanallen2499 Жыл бұрын
Great video, however the gene that causes IVA is called IVD, not IVA.
@lifeofshihtzu1699 Жыл бұрын
5.1mm is it abnormal😢. Plz reply me (13 weeks,)
@yulylaguadoherrera7957 Жыл бұрын
Would yo like share with me the bibliography o de source of the metabolic pathway of leucine
@hanumanthreddychilapalli7849 Жыл бұрын
Nuchal translucency measures 4.76 mm; it appears thickened. Also suspicious small cystic areas are noted under the skin behind the neck. Findings are highly suspicious for? cystic hygroma.
@studyrare 11 ай бұрын
Hello, I apologize for the delayed response. Cystic hygromas can sometimes happen on their own, though can also be associated with underlying genetic disorders like Down syndrome, Turner syndrome or Noonan syndrome. The findings of a cystic hygroma usually warrants closer follow-up by your local OBGYN.
@lamaabdulrhman7975 Жыл бұрын
12 week CRL 52.4 and NT 1.5 ,, is it normal ?
@BradleyH Жыл бұрын
Thank you for this video. Your slide at 2-3 mins says Biotin (vitamin B2) as a cofactor of glutaryl CoA. Can you clarify? Is it both biotin + B2? Or is there a possible mistake of calling B2 as biotin, or riboflavin as B7?
@studyrare Жыл бұрын
Thank you for your comment. Yes, you are correct, this should read as "Riboflavin (vitamin B2)". Biotin is not a cofactor for glutaryl-CoA dehydrogenase. The acyl-CoA dehydrogenases (including glutaryl-CoA dehydrogenase) all use FAD (flavin adenine dinucleotide) as a cofactor. Ribo'flavin' is a precursor to FAD and is therefore a cofactor for this family of enzymes.
@sweetrainydays Жыл бұрын
Is the NT value the lower the better? I am 13w and my Nt was 2.4mm, Crl 67mm. Is 2mm considered safer than 2.4mm? Or as long as Nt value is <95% it doesn’t matter? Thank you
@studyrare Жыл бұрын
Thank you for your question. In general, as long as NT value is <95%, then you are within the range of normal NT values in for 95% of healthy pregnancies. We would say that you are not at any increased risk for fetal anomalies with an NT below 95%. There is some variability in NT values within healthy pregnancies, and lower is not necessarily "better". As an example, your pregnancy would not be at an increased risk being at the 90th percentile compared with the 50th percentile, assuming no other anomalies were found.
@mlopresti6197 Жыл бұрын
@@studyrarewhere are you getting the percentiles from? I had my NT scan recently and it was 2.3mm with a CRL of 72.2mm. I found some calculators online and one of them said it was above 95th percentile while the others said it was around 80th. Which one is right? I’ve been worried sick.
@aarthikrishna3967 11 ай бұрын
Sister how is ur baby now ..me too have the same nt value
@sweetrainydays 11 ай бұрын
@@aarthikrishna3967 he is a healthy 3.5month old!
@AnnettaMJ7 Жыл бұрын
Hello Doctor, I’ve done an early ultrasound I’m 10+1 weeks and they found A 3,4mm Nt!! Don I have to be worried? Thanks
@nasrinkhatun3389 Жыл бұрын
Hello med use, My baby nuchal fold thickness 2.6 mm And my pregnancy is 21 weeks. Is it normal? And what should I do now? Plz suggest me
@nicolasdastous6360 2 жыл бұрын
hey @medMuse , very nice video. My wife is pregnant, we wen't for our dating echo last week at 11 weeks. The NT was 5.7mm. we were devastated. We went back at 12 weeks, the NT was 2.3mm. the doctor said she never saw that. We went from high risk to normal in one week. We also did the DNA blood work, all came back negative.
@studyrare 2 жыл бұрын
Hi Nicolas, thanks for your comment and for sharing your experience. So glad to hear that baby's NT is back to normal. Wishing you and your wife a healthy and safe pregnancy.
@lamaabdulrhman7975 Жыл бұрын
How is your baby
@nicolasdastous6360 Жыл бұрын
@@studyrare Shes at 34 weeks!! can't wait :)
@Sharma-tr555ob Жыл бұрын
How is your baby mam plz reply me sem problem me
@Sharma-tr555ob Жыл бұрын
🙏plz batana mam aapki baby kase h mera bhi nt 4mm or one weeks me 2.9 aaya h nipt test likha h docter ne
@muhammadwaqas1091 2 жыл бұрын
My son Burhan also involved in IVA. Pakistan
@212_subashg3 2 жыл бұрын
This was helpful thx:)
@jesiraj2448 3 жыл бұрын
Thank you , great informative review. Please do make more medical genetics vedeos.
@studyrare 2 жыл бұрын
Will do, thanks for your feedback!
@PediatricBoardwithDrAsala 3 жыл бұрын
nice .. thanks
@susannerack8541 3 жыл бұрын
Hey. I liked the video. I have been trying to search for a knowledgable KZfaq vid like yours that teaches everything in this KZfaq video.Your breakdown actually is like the videos from this informative health enthusiast Dr Ethan! Ethan's videos are helpful and I learned a lot for wellness. He is an educational health enthusiast in Europe and he explains mental health! You should check out his KZfaq out and give Dr Ethan a like! ➡️ #DoctorEthanNHS
@lisagonzalez2902 4 жыл бұрын
Thank you!
@studyrare 2 жыл бұрын
You're welcome, Lisa!
@savindrachathu7653 4 жыл бұрын
Really good presentation that covers everything about the topic. Please know that you are amazing!
@rubabmarham57 5 жыл бұрын
My son is suffering PA. I need help
@javerialaghari2604 4 жыл бұрын
How is ur son now.. My son was also diagnosed with this metabolic disorder n he could not survive