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Orthopaedic Genetics for Orthopaedic Fellowship Examination
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Orthopaedic Genetics for Orthopaedic Fellowship Examination
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Language: EN.
Segment:0 .
So welcome, everyone. Thanks for joining us again. We have now Mr Maxime mavela. He is a consultant from Harlow and he is an excellent first teacher and educator. I think most of you would know him from various courses and events. He is going to present us tonight, one of his lectures about genetics and orthopedic related to trauma and Orthopedics.
And please pay attention to it and use the chat option to put any questions that you have or any comments to him and make the best use of his knowledge, please. We have also shown he is also with us and he also he can step in if this, if you have any questions to him that you like. OK, I'll put it over to Mr Maximo.
Yeah, thank you. First, thank you, Sean. What I'll do is I'll put on Google to share screen and whereas will my picture me also coming, or the only on the share screen will be only the PowerPoint will be coming up. Is that correct? Yeah OK, so before we start, then this is a topic I know Sean has done embryology.
I think for astronomy have we had a discussion and maybe some topics like this, rather than having it like a hot seat bible, maybe we do a presentation with less questions. Is that all right by you, sean? And for us? Yeah yeah, just so that it's a difficult topic. If information can go across to say it like this, it just helps them to study better.
Is that all right? Yes, please. So let's start on. OK so can we come on to genetics? Yes, please.
Yeah, we'll start with that. But live just a minute, tenotomy. Now, let's start with genetics is a difficult topic. It's difficult because we don't discuss this in the coffee room and the topics, but unfortunately it's part of our curriculum. It's going to be asking a basic science favor. Just a plan of today. Diseases and patterns and definitions, so I think this is the only important thing that whatever the questions will be asked will come under this first part, which is disease patterns and definitions.
Then there may be some classic genetic conditions like achondroplasia, et cetera. So just imagine this, can you put this out for us? Is one question. What do you think are the common scenarios you may be asked in this question in the genetics? We're asking you just ask anyone just to begin with. OK so I think you all heard this question from Mr Maxim Zavala. What are your understanding of what?
How can genetics open in the fastest exam? Anyone want to answer that question? Raise your hand, please, we have Mohammad. Mohammad, go ahead. Hello yes, ahead. Go ahead. Hi I mean, basically it can be asked in a clinical scenario or in a that patient comes a female patient with Jupiter and contracture, for example, and she's worried that she heard that her kids can get the condition very correct and that in all likelihood, the likelihood of them developing this condition.
OK anything else? And it can come as well into at which type of defect in genetics that this is happening is a chromosomal defect. Correct that's very correct. So you're right. I think the common scenario will be is a mother and a child, and the mother is worried about any conditions. Excellent and the second would be a photograph, a clinical photograph of a child with achondroplasia or Down's, et cetera.
And you have to know the exact classification of that. Third will be a chromosome. A photograph of a chromosome will be shown to you. Is that correct? And fourth will be a DNA. Right so these are more or less what we will cover. So just to know, the first thing just to know is the number you type, your individual genetic composition and the phenotype will be the environment observed effect on the individual's environment.
When environment is involved, it becomes the phenotype. OK, so let's move on. Let's imagine we have this photograph on your right. So you are going to say this is a chromosome, Mr. maxima. Can I just say we can't see your presentation at the moment, you're only seeing a list of list of PowerPoint presentations. We can't see your actual presentation. OK, sorry.
And then I start again. Can you see it now? Yes, we can see it now. Perfect, thank you. And you see it now. Yes, we can see it now, yes, thank you. OK so a chromosome, the chromosome on the right?
So you tell the examiner this is a photograph of a chromosome. It is seen during cell division. That's why you have a centromere, it divides it into two arms, the Fe and the tube, and it's either. Submeter centric. Or not? OK and then say you have the DNA. And the DNA of you all know to describe it now in DNA.
Just remember there are three definitions which you should know. One is replication. Second, this transcription and third is translation. So rather than asking anyone just very simply, replication is the process of DNA synthesis, where each DNA orchestrates the synthesis of DNA, so exactly the same genetic information is passed on.
So keep things very simple. I've said it in this manner, either it in the same manner or write it in the same manner. So you can reproduce it in your words. Please understand you can go and reading English unless you say it yourself, it won't come out. Transcription remember, see comes before L or so. Transcript is before translation, so you can just say very simply, transcription is the transfer of genetic information from DNA to RNA and then save translation is a transfer of genetic information from the irony to a protein.
So keep things simple. So it comes out. Just remember, there's something called homozygous something of heterozygous. One was, I guess, is two identical Alice and heterozygous is two different. So simple to remember, nothing more complicated than this. Just remember, I'm introducing this. You can come here with some statistics.
And this is I feel one of the simplest definition incidence is the number of affected 4,000 birds. And prevalence will be the proportion of the population affected at any one time per 1,000. OK, so just remember incidence number affected 4,000 births. Now the next slide is something which we'll cover 90% of your confusion in genetics and one of the questions which one for us.
And we would find when we ask any candidate to describe a condition. Everyone will start talking about autism, dominant or passive. And that's not really the case. So this slide is such that all problems or genetics are classified into first with chromosomal abnormalities, and that is the rarest is 3.2, because remember that. And these are abnormalities of the chromosome bank, something's happened and there's abnormal chromosome thickened.
Remember, the big classification is single gene inherited defect. Remember this word? That's 7,000. Third would be congenital malformations. And remember the word multifactorial. Or colleague? And that's 34,000. So I'll just repeat again, because I don't mind spending as long on this slide.
The first classification you need to know about is chromosomal abnormalities. The second is a single gene, inherited defects. Third is congenital. Let's go further into each one. In chromosomal abnormalities, remember, it can be due to structures divided in your mind the structure, or it could be due to no. It is due to structure.
Is deletions with a little otherwise you have just inversions or translocation, just remember these words. But the more common ones we see are of no. And that would be the classical one is trisomy dance. We'll remember that. Remember, we have one less axilo. We call it turners, and you have extra, we call it Kleinfeld. All right, so very simple.
These are all chromosomal abnormalities of no. Next, these are conditions which are called single gene negative effects, which means scientists have realized that there's one gene which is responsible for an automatic or a genetic condition, and that gene is passed on in a particular manner. And this is the classification where all the things like autosomal dominant and recessive dominant come in.
And now all that. And the third one. So remember, this is the second one, and the third big classification is use the word multifactorial, use the word polygenic, use the word familial clustering and which orthopedic conditions come under this are the commonest ones are clubfoot that CTV and Nadh. Now swanning for us.
You want to contribute anything so far or should I carry on? I think I think we would like you to carry on. I think you are. Is it clear so far from what we've said so far from the presentation and seeing the screen? All right? It can't be any more clear. It's very, very nicely described and very Precice. Thank you.
The record did show other people of the group can view their pleasure later on and exit. So now and now, remember the candidate who came up very rightfully said that, you know he needs to know what is a risk factor of a child having a condition? So can we just ask anyone for just one question? The question is going to be that you're in a cage and there's a mother who's sitting there with her daughter, who is seven years old, who has CTV, right?
Congenital equine awareness. And the question the mothers ask me is, I'm pregnant now and I'm worried about my next child having CTV. So please tell me, how will you start counseling this patient? To put it to anyone for axilo. OK, guys who would like to. Describe how you counsel the patient with the CCTV.
And Mohammad, go ahead. I will. Mohammad will go ahead, but next time I will pick someone else. Sure so I explain to the mother that the clubfoot is a congenital malformation, which is multifactorial, and that means it does not follow the classical inheritance pattern. Very good. In that case, there will be a risk factor, which would increase the likelihood of it being present or happening to a child.
But I cannot give her exact figures. OK any points which may give you. So therefore, you're very right. So please this condition use my classification or the plastic and say if this condition comes under the volume, the multifactorial, multifactorial. Yeah, imagine if I had said given the same scenario for a child with Down syndrome, you're going to say this comes under the classification of chromosomal now in this condition of slap of CTV.
We are going to introduce this if this is called a bell curve, you agree. And we want everyone to be within over here, it's a regression to the mean. That's correct. Now we don't want the next child. Unfortunately, we're having the condition. So the risk we have to know what is the risk factor for that. So keep this in mind.
This risk is greatest among the first degree relatives. So the closer you are to the brother and sister is higher rather than someone saying my cousin, OK. Second is that if this child, unfortunately, who is already born, the seven-year-old has a very severe form of that condition. Then unfortunately, there's a higher chance of the next child having it. So the more severe the condition, the higher the chance of the next child having it.
And third, we all agree is common in boys. Is that right? And therefore, this is a daughter having it. So if the rarer sex has the condition, then unfortunately is a higher chance. The next child being in this area? Yeah, but this is so I've just given you a little flavor how to talk about this question of genetic counseling, right?
If you had a question, which is something that plays here, then the counseling would go away. You do a single gene defect and you start talking about how the inheritance pattern is. So now let's move on, thank a moment. Very good. So I'm moving on to the second part. Remember, we talked about this. This is the single gene defect and this remember we have two conditions.
The dominant condition and the recessive. And now let's stick to let's start with the first one autosomal dominant inheritance common conditions. The Genesis imperfecta and neurofibromatosis. Few points, just remember, OK, the affected person is heterozygous, male and female. And in every generation you have this one or two points, write it down yourself and try to memorize.
I don't think you will be in a position where you need all your diagrams, but you must be able to at least be in a position to know what that is about, when you're going, what is the dominant condition? So I've got it here for you. Next will be opposition resources.
So in that moment, once the US and the UK polysaccharide egawa test. Remember the females, the carriers are the healthy parents. Remember one of the points for me once again, you need to know a bit and put this here for you. Heard would be x-linked recessive. An example, Egyptians. And mitigate transmission in Canada, so let's remember one point of view points of every one of these conditions you can reproduce.
Third Is that excellent dominant? A good example is a vitamin D indicates. And that one line, one that does you want to recap so you don't get confused, let's start again. What does the mean dominant? The first one so many examples of traject imperfecta neurofibromatosis. Males and females, and there's an affected individual every generation.
In autosomal recessive good examples of hurlers, metabolic disorders, males and females and the carriers of the healthy parents. Then we have the axilo excessive usage, muscular dystrophy, male to male transmission cannot occur, so remember that. And then we have the x-linked dominant vitamin D resistant difference. So now we've covered DNA discovered chromosomes.
They're going to be very happy in a chromosome. I'm going to start with chromosomes. The DNA comes to DNA replication, transcription translation. If there's ever a question on counselling, you know, first to classify as to where it is in these 3 and then give the answer about how badly it would be affected or not. Then we talked about all the conditions of single gene defects.
And now imagine if you have no options left off that it will be just shown a picture of someone with the vector. So you're going to say the is a factor. It is autosomal dominant condition. I do know a gene respect say the scientists have no the gene is a classical mode and method of inheritance. You can say, well, I want it to be gene.
So, you know, a bit of which gene we're talking about. This is a classification all of your NOI. Just remember it so that you can see it when it comes up as a picture of the child or the adult. Just another example, you could do is, once again, how you going to start with, yes, a picture of an adult or with Earth on the glacier? Tell them. I do know what the dominant conditions say.
It comes under the classification of a single gene defect, which means we know that gene and there is no that gene is the fibroblastic growth factor receptor three, which is affected. Then you can say the classical mode of inheritance, which is the dominant narrative of inheritance. And then, you know, some features of epicondyle. So we can say this place hypoplasia, what else is there for us?
We can just ask someone. We have manifestations of Mason. We have Arthur who would like to take part. Just one minute, please, Arthur. Answer the question about other manifestations of achondroplasia, orthopedic manifestations, orthopedic manifestation. How we see achondroplasia is they are short. They have got neck problems and they have got spine problems.
But we need to establish after looking at them that whether they have any rise or limit or Mason limb shortening and with achondroplasia, its rise. Then we look into their pedestals on their spine because they come with scoliosis and you look for these scoliosis and then you have the facial features of achondroplasia, which is, I think, its button, nose and short neck. I am not very good, but do they have scoliosis or do they normally get another condition?
They get stenosis. Sorry, I take my word back. It is stenosis because of short medicals and not scoliosis. It's pronounced tenodesis. Excellent excellent. Thank you very much. So like that. Imagine that now you're shown a picture of a young child with trisomy 21.
So what are you going to say, going to say this is a child with down's? I do know it comes from one of the abnormalities. No, you can say the orthopedic manifestations. I would allow someone, but just should know that we slip up a femoral appearances patella dislocation. But now, russians, so are you going to say I do know it's a recessive inheritance?
I knew I know it's due to protein dystrophin deficiency and scoliosis as other orthopedic manifestation. And this is all what I mean. This is all what you know, we do know about genetics. I've given you just a few clinical scenarios. But now if you think of any other clinical scenario or a classical genetic condition, just put it there, know how to describe it as a classification.
Second, no one orthopedic manifestation and try to know one more thing about it. That's the best way of studying this problem. Is reading a chapter on it the other way? Very distributed. Thank you very much, Warren, and for please. Thank you. I think that was excellent explanation of very complex subject.
I think it draws the framework and people can start building into it. Can I say? Just from the faculty, one, we have also, Hussam here. Sean, do you have any comments? Anything to our, you know, excellent presentation. Very good framework for answering the questions. Some predicted ways you could get asked. This question is, for example, what is transcription?
What is translation as described before? What is a chromosome chromosome? What is it? What's the difference between a pedigree chart and a chart? What is what if there was one more? So what is those type of stuff? Describe the process by which you can transcribe DNA to proteins, how does it occur and things like that?
Ok? all of these questions are basic science. Very straightforward to answer. Can when you get into basic science, trust me, guys, you know it very well. Just keep calm. Take a deep breath and answer. I thought you beautiful answer. Why did you say then I will look for a reason medical.
They control desire is dwarfism or what is it is a normal spine or abnormal spine. From a momentous final, abnormal rise, it is a right like dwarfism. So you got to say that instead of making your answer very long and unnecessarily, making me pay attention more to what you're about to hear, you guys get that technique.
Don't get yourself into trouble by being too smart. You want to look at it and say, yes, that's good. Move on to the question that actually matters, which is the second question in the exam. OK, not the first. Thank you, Sean. We also have Sam. Here is also one of our faculty members. He is joined tonight.
Sam, you have anything to add at the moment or I was. Hi, guys. I missed my accent. So I just I just joined, so I didn't join from the beginning. I was just checking if you have anything we have to add. Also, I don't know if I danced or add anything I hope I would welcome. Now again, I was just trying to set up a system, so I've just joined previously.
I was not able to listen. Looking at the pictures, I think everything is fine and thank you. So any other participants have any questions related to genetics and orthopedics. Please raise your hand and I will let you speak to Mr maximus directly. We have five minutes for questions.
Just raise your hand on the chart option if you have any question, and I will connect you. I would say that this is a good I'm going to try to keep it simple for these type of topics and make your own little charts. That's the only way I think you can get these points across. Exactly I agree. Actually, the guys who know me know that I have this tiny little book where I'm drawing all of this stuff and you see that that's what I do, for example.
So if you draw that and label the stuff down there. And then you can actually expand it and connect it all to different stuff. This is no good. The guys who are sitting in February, I apologize, guys who are sitting in. This is what you should be doing, developing your step by step process. So for example, right now, someone says to you, give me the could you tell me about Gaucher disease?
We talk about the inheritance pattern the way it affects it. You've got the connections, you can then bring in the growth rate connection, you bring in the inheritance pattern, you can bring in all the other stuff even as the first sentence on this topic. This is why this topic should be easy for you guys. Yeah, as your first sentence inherited where it affects the growth rate inheritance pattern and then just, that's it.
You've got a relaxing sentence and the examiners are already relaxed now they know what they're going to go to. Well, tell me, how would you manage this? Very correct. I think that's really right. Good that's great. Thank you. Thank you very much, Mr mvala.
Yeah, that's good. Thank you. Thanks thanks, everyone for joining. Thanks especially to Mr Mahama. We couldn't have anyone better than him to tackle this topic, and we are very happy that he is willing to support us within this group, and he will be hopefully giving us a lot more, many more lectures. All his lectures are excellent, so we'll let you all know about it in the future.
We'll keep you all informed. Well, thank you very much. Thank you very much. Thank you, Allen and for us and for that mark. Thank you again. Thank you. The meeting now. Thank you very much, everyone. Bye bye bye.
Segment:0 .
So welcome, everyone. Thanks for joining us again. We have now Mr Maxime mavela. He is a consultant from Harlow and he is an excellent first teacher and educator. I think most of you would know him from various courses and events. He is going to present us tonight, one of his lectures about genetics and orthopedic related to trauma and Orthopedics.
And please pay attention to it and use the chat option to put any questions that you have or any comments to him and make the best use of his knowledge, please. We have also shown he is also with us and he also he can step in if this, if you have any questions to him that you like. OK, I'll put it over to Mr Maximo.
Yeah, thank you. First, thank you, Sean. What I'll do is I'll put on Google to share screen and whereas will my picture me also coming, or the only on the share screen will be only the PowerPoint will be coming up. Is that correct? Yeah OK, so before we start, then this is a topic I know Sean has done embryology.
I think for astronomy have we had a discussion and maybe some topics like this, rather than having it like a hot seat bible, maybe we do a presentation with less questions. Is that all right by you, sean? And for us? Yeah yeah, just so that it's a difficult topic. If information can go across to say it like this, it just helps them to study better.
Is that all right? Yes, please. So let's start on. OK so can we come on to genetics? Yes, please.
Yeah, we'll start with that. But live just a minute, tenotomy. Now, let's start with genetics is a difficult topic. It's difficult because we don't discuss this in the coffee room and the topics, but unfortunately it's part of our curriculum. It's going to be asking a basic science favor. Just a plan of today. Diseases and patterns and definitions, so I think this is the only important thing that whatever the questions will be asked will come under this first part, which is disease patterns and definitions.
Then there may be some classic genetic conditions like achondroplasia, et cetera. So just imagine this, can you put this out for us? Is one question. What do you think are the common scenarios you may be asked in this question in the genetics? We're asking you just ask anyone just to begin with. OK so I think you all heard this question from Mr Maxim Zavala. What are your understanding of what?
How can genetics open in the fastest exam? Anyone want to answer that question? Raise your hand, please, we have Mohammad. Mohammad, go ahead. Hello yes, ahead. Go ahead. Hi I mean, basically it can be asked in a clinical scenario or in a that patient comes a female patient with Jupiter and contracture, for example, and she's worried that she heard that her kids can get the condition very correct and that in all likelihood, the likelihood of them developing this condition.
OK anything else? And it can come as well into at which type of defect in genetics that this is happening is a chromosomal defect. Correct that's very correct. So you're right. I think the common scenario will be is a mother and a child, and the mother is worried about any conditions. Excellent and the second would be a photograph, a clinical photograph of a child with achondroplasia or Down's, et cetera.
And you have to know the exact classification of that. Third will be a chromosome. A photograph of a chromosome will be shown to you. Is that correct? And fourth will be a DNA. Right so these are more or less what we will cover. So just to know, the first thing just to know is the number you type, your individual genetic composition and the phenotype will be the environment observed effect on the individual's environment.
When environment is involved, it becomes the phenotype. OK, so let's move on. Let's imagine we have this photograph on your right. So you are going to say this is a chromosome, Mr. maxima. Can I just say we can't see your presentation at the moment, you're only seeing a list of list of PowerPoint presentations. We can't see your actual presentation. OK, sorry.
And then I start again. Can you see it now? Yes, we can see it now. Perfect, thank you. And you see it now. Yes, we can see it now, yes, thank you. OK so a chromosome, the chromosome on the right?
So you tell the examiner this is a photograph of a chromosome. It is seen during cell division. That's why you have a centromere, it divides it into two arms, the Fe and the tube, and it's either. Submeter centric. Or not? OK and then say you have the DNA. And the DNA of you all know to describe it now in DNA.
Just remember there are three definitions which you should know. One is replication. Second, this transcription and third is translation. So rather than asking anyone just very simply, replication is the process of DNA synthesis, where each DNA orchestrates the synthesis of DNA, so exactly the same genetic information is passed on.
So keep things very simple. I've said it in this manner, either it in the same manner or write it in the same manner. So you can reproduce it in your words. Please understand you can go and reading English unless you say it yourself, it won't come out. Transcription remember, see comes before L or so. Transcript is before translation, so you can just say very simply, transcription is the transfer of genetic information from DNA to RNA and then save translation is a transfer of genetic information from the irony to a protein.
So keep things simple. So it comes out. Just remember, there's something called homozygous something of heterozygous. One was, I guess, is two identical Alice and heterozygous is two different. So simple to remember, nothing more complicated than this. Just remember, I'm introducing this. You can come here with some statistics.
And this is I feel one of the simplest definition incidence is the number of affected 4,000 birds. And prevalence will be the proportion of the population affected at any one time per 1,000. OK, so just remember incidence number affected 4,000 births. Now the next slide is something which we'll cover 90% of your confusion in genetics and one of the questions which one for us.
And we would find when we ask any candidate to describe a condition. Everyone will start talking about autism, dominant or passive. And that's not really the case. So this slide is such that all problems or genetics are classified into first with chromosomal abnormalities, and that is the rarest is 3.2, because remember that. And these are abnormalities of the chromosome bank, something's happened and there's abnormal chromosome thickened.
Remember, the big classification is single gene inherited defect. Remember this word? That's 7,000. Third would be congenital malformations. And remember the word multifactorial. Or colleague? And that's 34,000. So I'll just repeat again, because I don't mind spending as long on this slide.
The first classification you need to know about is chromosomal abnormalities. The second is a single gene, inherited defects. Third is congenital. Let's go further into each one. In chromosomal abnormalities, remember, it can be due to structures divided in your mind the structure, or it could be due to no. It is due to structure.
Is deletions with a little otherwise you have just inversions or translocation, just remember these words. But the more common ones we see are of no. And that would be the classical one is trisomy dance. We'll remember that. Remember, we have one less axilo. We call it turners, and you have extra, we call it Kleinfeld. All right, so very simple.
These are all chromosomal abnormalities of no. Next, these are conditions which are called single gene negative effects, which means scientists have realized that there's one gene which is responsible for an automatic or a genetic condition, and that gene is passed on in a particular manner. And this is the classification where all the things like autosomal dominant and recessive dominant come in.
And now all that. And the third one. So remember, this is the second one, and the third big classification is use the word multifactorial, use the word polygenic, use the word familial clustering and which orthopedic conditions come under this are the commonest ones are clubfoot that CTV and Nadh. Now swanning for us.
You want to contribute anything so far or should I carry on? I think I think we would like you to carry on. I think you are. Is it clear so far from what we've said so far from the presentation and seeing the screen? All right? It can't be any more clear. It's very, very nicely described and very Precice. Thank you.
The record did show other people of the group can view their pleasure later on and exit. So now and now, remember the candidate who came up very rightfully said that, you know he needs to know what is a risk factor of a child having a condition? So can we just ask anyone for just one question? The question is going to be that you're in a cage and there's a mother who's sitting there with her daughter, who is seven years old, who has CTV, right?
Congenital equine awareness. And the question the mothers ask me is, I'm pregnant now and I'm worried about my next child having CTV. So please tell me, how will you start counseling this patient? To put it to anyone for axilo. OK, guys who would like to. Describe how you counsel the patient with the CCTV.
And Mohammad, go ahead. I will. Mohammad will go ahead, but next time I will pick someone else. Sure so I explain to the mother that the clubfoot is a congenital malformation, which is multifactorial, and that means it does not follow the classical inheritance pattern. Very good. In that case, there will be a risk factor, which would increase the likelihood of it being present or happening to a child.
But I cannot give her exact figures. OK any points which may give you. So therefore, you're very right. So please this condition use my classification or the plastic and say if this condition comes under the volume, the multifactorial, multifactorial. Yeah, imagine if I had said given the same scenario for a child with Down syndrome, you're going to say this comes under the classification of chromosomal now in this condition of slap of CTV.
We are going to introduce this if this is called a bell curve, you agree. And we want everyone to be within over here, it's a regression to the mean. That's correct. Now we don't want the next child. Unfortunately, we're having the condition. So the risk we have to know what is the risk factor for that. So keep this in mind.
This risk is greatest among the first degree relatives. So the closer you are to the brother and sister is higher rather than someone saying my cousin, OK. Second is that if this child, unfortunately, who is already born, the seven-year-old has a very severe form of that condition. Then unfortunately, there's a higher chance of the next child having it. So the more severe the condition, the higher the chance of the next child having it.
And third, we all agree is common in boys. Is that right? And therefore, this is a daughter having it. So if the rarer sex has the condition, then unfortunately is a higher chance. The next child being in this area? Yeah, but this is so I've just given you a little flavor how to talk about this question of genetic counseling, right?
If you had a question, which is something that plays here, then the counseling would go away. You do a single gene defect and you start talking about how the inheritance pattern is. So now let's move on, thank a moment. Very good. So I'm moving on to the second part. Remember, we talked about this. This is the single gene defect and this remember we have two conditions.
The dominant condition and the recessive. And now let's stick to let's start with the first one autosomal dominant inheritance common conditions. The Genesis imperfecta and neurofibromatosis. Few points, just remember, OK, the affected person is heterozygous, male and female. And in every generation you have this one or two points, write it down yourself and try to memorize.
I don't think you will be in a position where you need all your diagrams, but you must be able to at least be in a position to know what that is about, when you're going, what is the dominant condition? So I've got it here for you. Next will be opposition resources.
So in that moment, once the US and the UK polysaccharide egawa test. Remember the females, the carriers are the healthy parents. Remember one of the points for me once again, you need to know a bit and put this here for you. Heard would be x-linked recessive. An example, Egyptians. And mitigate transmission in Canada, so let's remember one point of view points of every one of these conditions you can reproduce.
Third Is that excellent dominant? A good example is a vitamin D indicates. And that one line, one that does you want to recap so you don't get confused, let's start again. What does the mean dominant? The first one so many examples of traject imperfecta neurofibromatosis. Males and females, and there's an affected individual every generation.
In autosomal recessive good examples of hurlers, metabolic disorders, males and females and the carriers of the healthy parents. Then we have the axilo excessive usage, muscular dystrophy, male to male transmission cannot occur, so remember that. And then we have the x-linked dominant vitamin D resistant difference. So now we've covered DNA discovered chromosomes.
They're going to be very happy in a chromosome. I'm going to start with chromosomes. The DNA comes to DNA replication, transcription translation. If there's ever a question on counselling, you know, first to classify as to where it is in these 3 and then give the answer about how badly it would be affected or not. Then we talked about all the conditions of single gene defects.
And now imagine if you have no options left off that it will be just shown a picture of someone with the vector. So you're going to say the is a factor. It is autosomal dominant condition. I do know a gene respect say the scientists have no the gene is a classical mode and method of inheritance. You can say, well, I want it to be gene.
So, you know, a bit of which gene we're talking about. This is a classification all of your NOI. Just remember it so that you can see it when it comes up as a picture of the child or the adult. Just another example, you could do is, once again, how you going to start with, yes, a picture of an adult or with Earth on the glacier? Tell them. I do know what the dominant conditions say.
It comes under the classification of a single gene defect, which means we know that gene and there is no that gene is the fibroblastic growth factor receptor three, which is affected. Then you can say the classical mode of inheritance, which is the dominant narrative of inheritance. And then, you know, some features of epicondyle. So we can say this place hypoplasia, what else is there for us?
We can just ask someone. We have manifestations of Mason. We have Arthur who would like to take part. Just one minute, please, Arthur. Answer the question about other manifestations of achondroplasia, orthopedic manifestations, orthopedic manifestation. How we see achondroplasia is they are short. They have got neck problems and they have got spine problems.
But we need to establish after looking at them that whether they have any rise or limit or Mason limb shortening and with achondroplasia, its rise. Then we look into their pedestals on their spine because they come with scoliosis and you look for these scoliosis and then you have the facial features of achondroplasia, which is, I think, its button, nose and short neck. I am not very good, but do they have scoliosis or do they normally get another condition?
They get stenosis. Sorry, I take my word back. It is stenosis because of short medicals and not scoliosis. It's pronounced tenodesis. Excellent excellent. Thank you very much. So like that. Imagine that now you're shown a picture of a young child with trisomy 21.
So what are you going to say, going to say this is a child with down's? I do know it comes from one of the abnormalities. No, you can say the orthopedic manifestations. I would allow someone, but just should know that we slip up a femoral appearances patella dislocation. But now, russians, so are you going to say I do know it's a recessive inheritance?
I knew I know it's due to protein dystrophin deficiency and scoliosis as other orthopedic manifestation. And this is all what I mean. This is all what you know, we do know about genetics. I've given you just a few clinical scenarios. But now if you think of any other clinical scenario or a classical genetic condition, just put it there, know how to describe it as a classification.
Second, no one orthopedic manifestation and try to know one more thing about it. That's the best way of studying this problem. Is reading a chapter on it the other way? Very distributed. Thank you very much, Warren, and for please. Thank you. I think that was excellent explanation of very complex subject.
I think it draws the framework and people can start building into it. Can I say? Just from the faculty, one, we have also, Hussam here. Sean, do you have any comments? Anything to our, you know, excellent presentation. Very good framework for answering the questions. Some predicted ways you could get asked. This question is, for example, what is transcription?
What is translation as described before? What is a chromosome chromosome? What is it? What's the difference between a pedigree chart and a chart? What is what if there was one more? So what is those type of stuff? Describe the process by which you can transcribe DNA to proteins, how does it occur and things like that?
Ok? all of these questions are basic science. Very straightforward to answer. Can when you get into basic science, trust me, guys, you know it very well. Just keep calm. Take a deep breath and answer. I thought you beautiful answer. Why did you say then I will look for a reason medical.
They control desire is dwarfism or what is it is a normal spine or abnormal spine. From a momentous final, abnormal rise, it is a right like dwarfism. So you got to say that instead of making your answer very long and unnecessarily, making me pay attention more to what you're about to hear, you guys get that technique.
Don't get yourself into trouble by being too smart. You want to look at it and say, yes, that's good. Move on to the question that actually matters, which is the second question in the exam. OK, not the first. Thank you, Sean. We also have Sam. Here is also one of our faculty members. He is joined tonight.
Sam, you have anything to add at the moment or I was. Hi, guys. I missed my accent. So I just I just joined, so I didn't join from the beginning. I was just checking if you have anything we have to add. Also, I don't know if I danced or add anything I hope I would welcome. Now again, I was just trying to set up a system, so I've just joined previously.
I was not able to listen. Looking at the pictures, I think everything is fine and thank you. So any other participants have any questions related to genetics and orthopedics. Please raise your hand and I will let you speak to Mr maximus directly. We have five minutes for questions.
Just raise your hand on the chart option if you have any question, and I will connect you. I would say that this is a good I'm going to try to keep it simple for these type of topics and make your own little charts. That's the only way I think you can get these points across. Exactly I agree. Actually, the guys who know me know that I have this tiny little book where I'm drawing all of this stuff and you see that that's what I do, for example.
So if you draw that and label the stuff down there. And then you can actually expand it and connect it all to different stuff. This is no good. The guys who are sitting in February, I apologize, guys who are sitting in. This is what you should be doing, developing your step by step process. So for example, right now, someone says to you, give me the could you tell me about Gaucher disease?
We talk about the inheritance pattern the way it affects it. You've got the connections, you can then bring in the growth rate connection, you bring in the inheritance pattern, you can bring in all the other stuff even as the first sentence on this topic. This is why this topic should be easy for you guys. Yeah, as your first sentence inherited where it affects the growth rate inheritance pattern and then just, that's it.
You've got a relaxing sentence and the examiners are already relaxed now they know what they're going to go to. Well, tell me, how would you manage this? Very correct. I think that's really right. Good that's great. Thank you. Thank you very much, Mr mvala.
Yeah, that's good. Thank you. Thanks thanks, everyone for joining. Thanks especially to Mr Mahama. We couldn't have anyone better than him to tackle this topic, and we are very happy that he is willing to support us within this group, and he will be hopefully giving us a lot more, many more lectures. All his lectures are excellent, so we'll let you all know about it in the future.
We'll keep you all informed. Well, thank you very much. Thank you very much. Thank you, Allen and for us and for that mark. Thank you again. Thank you. The meeting now. Thank you very much, everyone. Bye bye bye.
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