Learn Medical Genetics

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@user-oo8fd2ov5m 5 күн бұрын

in familial retinoblastoma why the other normal allele is being mutated and is it in all/most patients? in other words why second hit happens and how frequent it is?

@Catherinerebekah Ай бұрын

Nice lecture but just one clarification...carnitine is produced in mitochondria from lysine. So it must be taken out into cytoplasm, not the other way around

@luisa5004 Ай бұрын

You can also have CCA and LDS

@natanakaidze1143 2 ай бұрын

5:29 increased testosterone?

@sydneycardio2757 3 ай бұрын

Where she showed as proximal is actually the distal part

@sumanali6495 3 ай бұрын

I lost my 28 weeks baby due to cysyic hygroma, now I'm scare , whats the reasons?

@bevturner2258 4 ай бұрын

Clear and concise explanation - thank you!

@tyreechawkins9904 4 ай бұрын

i am a frateral twin also

@vannestch 5 ай бұрын

THANK YOU for explain who I am.

@user-fz7ud1rc7n 6 ай бұрын

What it's mean by acylcarnitine ?? it's global word , how can we measure it in laboratory

@user-fz7ud1rc7n 6 ай бұрын

Thanks so much for the clear explanation

@venkybly 6 ай бұрын

Tq for making this so simple

@venkybly 6 ай бұрын

nice presentation Tq

@ruparkyitin 7 ай бұрын

Is there any relation of Ehlers-Danlos syndrome and Loeys-Dietz syndrome?

@silience_ Ай бұрын

Hi there, person with LDS3 here :). I realize your comment's a little old now, but it's a great question! So, vascular Ehlers-Danlos Syndrome (vEDS/EDS IV), the type of EDS that's similar to LDS, is actually a differential diagnosis of LDS; there's no direct relation, but there are a number of similarities between the two conditions. So vEDS can also lead to dissections (even without an anyeurism) of the aorta and following blood vessels, however vEDS is caused by a mutation of the COL3A1 gene, whereas LDS can arise from any of the 6 potential culprits discussed in the video. Hope this still helps!

@koralinam9254 7 ай бұрын

I have LDS - TGFBR3 🫤

@kathyhaering3460 11 ай бұрын

Brilliant, thank you so much

@christinamitrovich7554 11 ай бұрын

Me and my mini me both have this. ❤ my kid is the cutest kid in all of Melbourne and everyone wants to adopt her. She is all mine mine mine. Specially created for me.... ❤

@namixless9732 11 ай бұрын

great video. one thing i noticed though is in the treatment tip at the end. the intersex community advocates against genital surgeries in infants. as someone whos intersex with CAH it doesnt sit we’ll recommending surgery as an option as it is unnecessary and the infant cannot consent to it

@felyndolloso3861 11 ай бұрын

Hi doc, i'm a mother of acardiac twin "mono-di" 1 placenta 2 amniotic sac.

@mohankumark6601 Жыл бұрын

Great lecture too the point❤

@andreabloom7002 Жыл бұрын

I also have yhis with absolutely no help from drs. This is the first time i sctually found others with it outside my family. I want to know the affects on our bodies as adults and at 60 with major back issues does anyone have any more info

@susiewest1209 3 ай бұрын

I haven't been diagnosed with this, but I'm certain I have it. I am 81 now and arthritis has set in and made everything more painful. Used to do charcoal portraits until about 8 years ago but now it is too painful. I have never been treated specifically for LWS/LWD and when I mention it to doctors I only get strange looks from them, nothing more. I would like to find an online support group. There is one for Madelung's Deformity and another one for dwarfism in general, but so far none for LWD.

@susiewest1209 3 ай бұрын

I also have a lot of back pain and scoliosis

@susiewest1209 3 ай бұрын

Had badly bowed legs but when I had total knee replacement the surgeon was somehow able to cut the bone at an angle or something and my legs are much less bowed now.

@susiewest1209 3 ай бұрын

I grew to 4'7" and stopped at age 12, now I am 4'3" tall.

@douachizou3826 Жыл бұрын

Thanks alot that was really helpful .we have a momo-di twins and it was great to see this video .

@madhu_1489 Жыл бұрын

my c16 and c18.1 and c.18.2 are high in cartinine profile test but there is no diagonse in whole exome sequencing!

@annaclaire1482 Жыл бұрын

This video is just perfect, I'm a visual learner and now I'll remember this forever 😻 thank you!!

@GEMELLOSEXOLOGIE Жыл бұрын

Vendredi 3 Février 2023 - PARIS (France) I have so much to say about twin Genetics and Types of twins but my english is not good enough ! What a pity ! (Monozygotic twin from PARIS -FRANCE) @GEMELLOSEXOLOGIE MIR.POP'UP FROM IGNORANCE

@WhaddupImJohn Жыл бұрын

Are palmar pits only with gorlins or can you just have them?

@bradycushway Жыл бұрын

I have lchad. i am 45. I was diagnosed when I was 18. To hep me, I take Lcaritor MCT Oil and Portigen (MCT powder)

@madhu_1489 11 ай бұрын

what tests you diagonsed through?

@PradeepkumarGayam Ай бұрын

sorry for asking this question. How has this condition affected you? Are you able to lead a normal life?

@python2.1 Жыл бұрын

A very helpful video to get a concise yet well explained background knowledge before I finally kill my brain cells with my text book. Thanks 😊

@guntadakdaudi2781 Жыл бұрын

MONO ZYGOTIC AND DIZYGOTIC , 1 AMNIOTIC SAC 2 AMNIOTIC SAC UMBILICAL CORD CLAMPED , PLAVENTA TAKEN OUT IDENTIACAL AND FRATERNAL TWINS .

@guntadakdaudi2781 Жыл бұрын

SOME WOMEN GIVE BIRTH TO KIDS IN 10 MONTHS WHY

@dananjanirathnayake5059 Жыл бұрын

Great video

@oliveralonsogiljacobo8153 Жыл бұрын

Te amo. Gracias

@majmarkmiranda Жыл бұрын

As a new father Im excited to learn having mono twins on the first go and holy fuck now I'm scared

@lanzinator4734 2 жыл бұрын

Wow, I have this!! So do many members of my family.

@laurengreen8770 2 жыл бұрын

I'm a clinical research coordinator - and I love research because I'm always learning about new topics - and twin pregnancies are completely new to me. This video made my work 100x clearer and now I can have discussions with mothers about their twin pregnancies and understand more of what is happening. Thank you for this very valuable information!

@apriln2108 2 жыл бұрын

Will both twins get an autosomal recessive disorder if they are identical?

@sallyhumu3089 2 жыл бұрын

BEST TREATMENT FOR PCOS AND CAH IS DR ISIBOR ALTERNATIVE HERBS AND BODY CLEANSER WORKS PERFECTLY WELL NO SIDE EFFECT

@nilamk2250 2 жыл бұрын

Dr told me in 10 weeks scan that baby has cystic hygroma but we waited and in 12 week scan everything is normal, NT and double marker test is also normal. Are there any other necessary tests.

@jasnapasalic7814 Жыл бұрын

Hi there, thanks for sharing your story. Can I ask, how big it was when they found it? I found out in the 14th week about 0.60mm and they told me there is still a high chance of disappearing as your baby had. I don't want to do Invasive testing.

@nilamk2250 Жыл бұрын

@@jasnapasalic7814 they did not mention abt how big it was but dr gave only 10 percent possibility of everything getting normal but by God's grace everything turned out normal. I m in my 9 the month now 🤞

@jasnapasalic7814 Жыл бұрын

@@nilamk2250 I'm so happy to hear you and the baby were fine at the end! I do also believe and trust everything will be okay. Thanks! All the best to you and the baby!

@kiranhadi7551 Жыл бұрын

I am 11 weeks pregnant and i found out today that my baby is having cystic hygroma but the doctr said there is 10% chance that it will disappear... i will go for another ultrasound after two weeks ... may everything goes well

@nilamk2250 Жыл бұрын

@@kiranhadi7551 be positive, god tries to give best output. Jst have a patience.

@medicmandan2554 2 жыл бұрын

really helpful, thank you!

@kamranraza1405 2 жыл бұрын

Monochorionic diamniotic and same placenta kia identical ho ga ya fartarnol? Same shakal k ho gay??

@thacompilations4010 2 жыл бұрын

Excellent!

@shanaw5445 2 жыл бұрын

Did you remove your video on Aicardi syndrome? I can't find it :(

@JillEllenLloyd 2 жыл бұрын

Thank you

@moosestubbings1853 2 жыл бұрын

I have LDS and had an aortic root replacement(valve sparing) on oct1,2009 they used my aorta to create a test for this disease Im in a research program with the N.I.H. so that they can treat this disease in future generations. My father died from an aortic dissection in november of 1985 at the age of 33 Intrestingly enough I tested positive for SMAD3 my entire family benefits from this research

@GrableMusic 2 жыл бұрын

I need to know how to get a proper diagnoses. I have a long family line of this.

@chicchic4122 2 жыл бұрын

Do you suggest the whole panel of genes need to be tested for an accurate diagnosis? The “ testing “company tested only for SMAD3 and supposedly found a variant. Now the doctor wants to put him on meds and his scans are normal! I am being skeptical.

@johnkodhek 2 жыл бұрын

Thankyou

@SaurabhYadav-co7mq 2 жыл бұрын

Great video, Thanks and Keep it up😄

@slowlivinganjali6178 2 жыл бұрын

I got diagnosed with non classical adrenal hyperplasia just 2 days ago. I'm trying to understand the diagnosis

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