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» Divine Intervention Podcasts

Divine Intervention Episode 423: USMLE Step 2/3 Rapid Review Series 86

» Divine Intervention Podcasts

Divine-Favour Anene

Medicine, Education, Science & Medicine, Higher Education

4.9929 Ratings

🗓️ 1 November 2022

⏱️ 24 minutes

🧾️ Download transcript

Summary

In this short podcast, I continue our rapid review series for the USMLE Step 2/3 exams with a discussion of HY genetic defects and joint pathologies that often show up on these tests. Audio Download

Transcript

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0:00.0

Okay, welcome. My name is Devine. This is episode 423 of the Devine

0:05.2

Intervention Podcast. In today's podcast, I'm going to be continuing the rapid

0:08.2

review series for the USMI Step 2, second step 3 exams. This is going to be

0:12.0

series 86. All right. So what if they give you a question about a child that has, you tell you is a five-year-old boy, he has intellectual disability, has autistic features, has a long face,

0:27.8

has a large jaw, has big, many things are large here, right?

0:30.9

So long face, big jaw, big ears, big testicles, right?

0:35.0

Sometimes these are saying big testicles.

0:36.6

They'll use the term macro or kidism.

0:39.1

What should you be thinking about?

0:41.1

Well, I would really hope you're saying, oh, divine, this sounds an awful lot like fragile X syndrome.

0:45.1

Remember fragile X syndrome is one of the tranichotide repeats disorders and in this

0:50.8

tranquil thiothi repeat disorder, right?

0:52.8

First things first is to know the mode of inheritance.

0:54.8

Remember, it's X-linked dominant inheritance.

0:58.4

Really, there are two X-linked dominant disorders

1:00.6

that are friends at the MBMEs really want you to know.

1:03.0

One is Fragile X Syndrome.

1:05.0

The other one is Alport Syndrome.

1:08.0

Alport Syndrome is another pretty high-yield X-Lincdominant disorder

1:11.0

that you need to know for your exams. So the thing then that will be helpful here is asking ourselves, okay, what's the tranquil growth and repeat that's a sociality of fragile X syndrome. Well, it's the CGG

1:24.0

trying to do with that repeat.

1:25.0

I remember the gene that is messed up is the FMR 1 gene, right, the FMR 1 gene,

...

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