DIP Episode 95 - USMLE Step 2CK Rapid Review Series 2 (Peds)

Okay, welcome. My name is Divine. I am a PGY1 transitional year resident going into radiology. This will be the 95th episode of the Divine intervention podcasts. This will be a rapid review for the this will be a no-literation of my rapid review series for the USM and STM2 CK. I'm going to be focusing on pizza. So let's just jump right into it. So what if you get a question about you know like a salty baby and this baby has like malabsorption from like exocrine pancreatic insufficiency and I guess you kind of make that diagnosis with like a fickle and last days. What disease are you thinking about? I really hope you think about cystic fibrosis, right? cystic fibrosis is one of those conditions that you should probably not take actually any USMLE exam if you don't know in detail, right? So remember classic presentation, salty baby, malabsorption because the pancreas is all screwed up because you've gone up the pancreatic ducts with with very thick secretions. You can sort of make that diagnosis of pancreatic insufficiency would like fickle and last days and something that pops up on exams often. I remember that these people are the most common cause of pneumonia at least prior to the age of like 18 to 21 is a is a star for you. But after that age range you're going into pseudomonas at territory, right? And then don't forget there is this other bug that may also cost pneumonia in CF patients.

Bocoderesa Pisa is just one of those weird ones you sort of want to keep at the back of your mind as well of those like abstract questions and shows up and most people get it wrong. And right, obviously it's called cystic fibrosis, right? So you should be able to easily remember that it's caused by like a CFTR mutation. It's like a rosomal recessive inheritance and probably one of the more common mutations, right? It is like the Delta F508 mutation, right? And I mean there are many like literally there is tons and tons of whiz decontestic fibrosis, right? Like you can shop as like meconium ilios at birth, it can shop as like male infertility because remember those people tend to have like a congenital absence of the vast difference. They can have like rectoprolapse that's another common example presentation, especially on pit shelf exams. Remember there is this association like nasal polyps, right? Although don't forget that aspirin exacerbate respiratory disease, right? So like aspirin induced asthma also has an association with nasal polyps and you treat those nasal polyps where it's steroids, in helicorical steroids. And really like these kids they need like you know chest physiotherapy on the regular, they need like inhale, like tuberumisin for example to sort of cover pseudomonas. Remember tuberumisin is an amino glycoside, right? Those are your 30-S factor side inhibitors of initiation, right?

So you can actually use them to treat us with the monos, the cover gram negative is pretty well. And then obviously right you want to supplement the pancreatic enzymes they are missing so that they don't get my absorption. And then you can also give an acetylocysteine, right? To sort of break up secretions in their earway. Another drug you can actually use is something known as DN As, right? So like dornis alpha, you can actually give that it breaks up DNA, breaks up force four diester bonds. That's more of a step one association or I guess a step three association. If they really want to mess with your head, but yeah you can treat cystic fibrosis with those things. And again you also give them high calorie diets because those people tend to be like pretty malnourished, right? So cystic fibrosis can present on an exam as a kid that's like less than the third percentile for weight or something like that. Okay, I think that's what I'm going to say about cystic fibrosis, right? Now what if you get a scenario on an exam about like, you know, a calcified mass on an abdominal CT scan or the hotel, it's a posterior medius thinal mass. I really hope you're thinking about like a neuroblastoma, right? So remember that a neuroblastoma is a neuro-based tumor, right? And many of these neuro-based tumors, they tend to hang out in the posterior medius thinal. Contrast that with like your thymomas, your lymphomas that are more like anterior medius thinal masses, right?

And remember, neuroblastoma is a calcified mass that crosses the midline, very high you to know that it crosses the midline. Contrast that with a weld tumor that is usually not not calcified on NV Me's and usually does not cross the midline, okay? It's very very high you to know those kinds of things, right? I remember a weld tumor comes from the kidneys versus a neuroblastoma that may be like an adrenal-based mass, but it could come from many different organs. But just remember, it's a neuro-based tumor, it's calcified that it crosses the midline. And I remember the association with something called an opso-clona, smile-clona syndrome. I talk about it more in my PI Ds video, right? They have like weird eye movements and weird eye movements. One of those big things you want to keep at the back of your mind. Okay, now what if you get a question about you know like clustered seizures that kind of occurs in a child, sort of presents as like you know contraction of the neck, the arms, and then they tell you that EEG shows hips arrhythmia, right? That's a buzzword. You want to remember. And let's assume this child has like hypopigmented macules on the skin. What are you thinking about? I really hope you're thinking about like tuberous sclerosis. The seizure they have is what's known as west syndrome. Some people also refer to it as infantile spasms, okay? So remember the association with tuberous sclerosis. I remember tuberous sclerosis, right?

Those people tend to have like the shagrin patches. They can have like the aschleaf spots, right? That's like those are those are hypopigmented macules on the skin. And really if you want to treat west syndrome, the seizure the solar associated with tuberous sclerosis, you treat with ACT. So adrenal colicotropic hormone. Another thing you may see on NV Me is via GABA treatment. Via GABA treatment is a GABA urgent agent that can be used to treat those seizures. Although that's probably a little lower yield, but ACT is definitely high yield to know for tests. And again, usually this seizure the solar shows up in like kids with tuberous sclerosis that are less than a year old, okay? And remember in tuberous sclerosis, they tend to have like intellectual disability. They have like the cortical and sub cortical like tubers, right? They can have like nodules in the ventricular system. Those are what's those are the things that are known as like the sub-ependomal nodules. Don't forget they can also get this about 15% of them get this bring tumors known as a sub-ependomal giant cell astrocytoma or SEGA. It's just one of those things you see and you either know it or you don't know it. And then some other high yield associations with tuberous sclerosis, right? Remember they tend to get like the cardiac arapidol myomas, right? And then they can also get the renal angiomyelipomas, right? So it's like a tumor that contains blood vessels, muscle and fat. Okay.

Now, what if you get a question about a kid that has you know like generalized like tonic lonic seizures in the morning and really this seizure the solar has like a good prognosis and it actually has like a zomodominant inheritance. This is the one and again it will be like in a like a teenager, right? Or like a kid that's around like 10 years old. This will be your juvenile myoclonica epilepsy. Now, what if you get a question about a kid that has like many different kinds of seizures, has like like really bad cognitive dysfunction and then they tell you that an EKG shows like generalized spikes and slow waves. The key thing I because this is kind of like a non-specific presentation, but I'll tell you that you want to think of the key like boss phrase here like the multiple seizure types. You want to think about Lenox gastosendram, okay? It's a seizure disorder that's actually relatively common in kids. Now, what if you get a question about a kid that's not doing well in school, kind of stairs off into space, has no post-tictose state, what are you thinking about, right? I hope you're thinking about like your ups on seizures, right? Remember, it's actually a kind of generalized seizure, okay? And remember, the classic sterance spells, don't forget your classic EEG finding with the three herds spike and slow wave activity. And don't forget that the drug of choice in treatment is if those socks are might, right?

Remember, if those socks are might is a tea type calcium channel blocker because you're awesome friends at the MBME. I can sort of imagine them being very nice with, you know, putting a question where the sale drug of choice works by which of the fully mechanisms of action. And then they put blocks tea type calcium channels, block L type calcium channels, just to sort of like scrub with your head, right? Don't forget it's the tea type calcium channels. That's how if those socks are might work since the drug of choice for the treatment of ups on seizures. Now, what is the, I guess, kind of diet that has been shown to decrease the recurrence of like medically intractable seizures? It actually decreases like the incidence of these seizures by like 30 to 50%. That's actually the ketogenic diet. The ketogenic diet is probably one of the most medically beneficial diets I have ever heard of. And I mean, it's obviously supported by a lot of medical evidence. So if you're trying to lose weight or you're trying to get healthy or decrease incidence of seizures, ketogenic diet may not be the worst thing in the world. Okay, now, what if you get a question about a kid, you know, has high fever, has a high fever, has a seizure for like, you know, like less than 15 minutes, has no recurrence of the seizure within like 24 hours. And it's like a generalized tonic lonic seizure. What are you thinking about? I hope you're thinking about like a typical February of seizure.

So February of seizures, they show up quite commonly as speech questions on NVM Es. I remember for those you just give anti-paradx, right? Just to sort of like decrease the fever. I mean, there's kind of like a one-third risk of recurrence. But really for these kids, you don't need to be a hero. You don't need to do any kind of imaging. Just for a short appearance and send the kid home, that's really all you need to do. But that is for a typical February of seizure. So if you see me making note of the word typical February of seizure, it probably stands to reason that there is such a thing as an atypical February of seizure, right? And really the way the key difference is the thing that will help you differentiate a typical February seizure from an atypical February seizure is that the atypical kind, the seizure lasts for more than 15 minutes versus the typical kind that is less than 15 minutes. There is recurrence within a 24 hour span, right? So it's like, oh, in less than 24 hours, this kids have more than one seizure. That's an atypical February of seizure. If the seizure is a focal seizure, that also makes it atypical, right? Because remember, the typical February of seizure is almost always generalized tonic clonic on end-beamings. But if you're seeing like a focal seizure, that classifies as an atypical February of seizure. I mean, to be a February of seizure, they have to have a fever in the first place, right?

And really, whenever you see these atypical features like the seizure lasts more than 15 minutes, recurring more than once within a 24 hour period, being a focal seizure. Usually on end-beamings, you actually want to consider getting some kind of imaging or EEG for these patients. But if it's a typical kind like less than 15 minutes, only one episode in a 24 hour period, generalized tonic clonic, you don't need to do anything. No imaging, no EEG, just for your shoulder parents, give anti-paradx, send the kid home. Okay? So again, kind of high yield to know these things I'm talking about. Now, what is the disease you think about when you see those cluster of symptoms, right? So like, cranial nerve too, like gliomas, cafeo-lea spots, right? Remember, these cafeo-lea spots, hyper pigmented lesions. Don't confuse this with the Ashley spots you find in tuberous sclerosis that are hypopegmented. And then they tell you that it's a chromosome 17 mutation. What are you thinking about? I really hope you're thinking about like NF1, right? So like neurofibromatosis type 1. Remember, it has many nice associations, right? That you love to test on exams like the risk of the fiochromositoma, the neurofibromin amniotation. I remember, it's actually inherited in an autosomod dominant fashion, right? And those kids can have like these, what are they called? The Lich nodules. Those are just like hematomas of the iris. Okay.

Now, what if you say like the triad of like vestibulatory anomas, chromosome 22 defect, and autosomodominant inheritance, I really hope you're thinking about like neurofibromatosis type 2, right? Remember, that's also a tumodobinant inheritance. They tend to get like the bilateral acoustic neuromas. In fact, that is actually diagnostic for NF2, and it's a chromosome 22 defect. Okay. Now, what if you get a question about a kid, you know, that has like, guess not a kid. But let's say you get a question about a person that gets Alzheimer's in their 30s, or they have like an increased risk of LL, and they have like the pathonomonic epicanthal folds. If you see that, what are you thinking about on an exam? I really hope you're thinking about Down syndrome, right? Remember, it's the trisodobin 21. Don't forget that those kids can have like meconium ilios as well. But classicly on MBM is that meconium ilios is arising from a Hirschsprung's disease. Remember the whole thing with what is it called? The rubertsunian translocation. Like that's like one potential mechanism behind a kid getting a Down syndrome. The rubertsunian translocations, I believe, have explained them in a self-physiology podcast like way back when if I have not, or probably talk about them in some future podcasts, another mechanism behind like the acquisition of Downs, like genetically, is something known as maternal non-disjunction. That's a boss phrase you believe it or not.

You may say, oh, divine, you're throwing out all these things. I promise you, like all these things I'm saying, they're very high you'll be a thing that do show up on exams. But maternal non-disjunction is another potential mechanism behind a Down syndrome. And then some other key things you want to know, right? Don't forget the Atlanta Accelerate Instability. So before kids with Down syndrome, I allow to participate in sports, right? You want to go ahead and do like a lateral neck X-ray, right? Because again, you want to roll out that Atlanta Accelerate Instability. Remember that same warning extends to patients with ankylosin-spondylitis. I'm also patients with a rheumatoid arthritis, it's very difficult for surgery, anything like that. You always want to roll out Atlanta Accelerate Instability. That shows up like way too much on NV Me exams. You'll be doing yourself a big disservice if you don't commit that to memory. Now, right, don't forget, they also have like an increase risk of like ALL, right? So remember the numonic, you probably learned as you study for step one where they all fall down, stuff like that. Again, remember, they tend to have like the single pomegranate, they can have like the double bubble, right? Remember, that's like borderline atreasia. That's like a failure of recolonization. And really, many of these problems they get in Down syndrome, right? It's just from a neurocressel migration issue.

Because it's like the neurocressels don't migrate to the distal GI tract, so they get herch bronx. Neurocressels don't migrate properly to the heart, so they get like a nucleotoccean defects. They get like problems with the urethical pulmonary septum. Really, if you sort of cut lock the problems that people have in Down syndrome, many of those issues they have, like if you sort of like trace it back embryologically, sort of trace it back to having like neurocressel migration issues. Now, what if you get a question about like a six-month okay, that's you know, losing motor milestones, sort of dies before the age of two. And it's like an autosomal recessive disease. Really hope you're thinking about like a spinal musculotrophy, right? That's what's also known as a wettening, half-man disease. Basically, remember, it's an autosomal dominant, sorry, autosomal recessive issue chromosome five in like the survival motor neuron, one gene, the SMN one gene. And classically, it will present as a hypotonic infant, right? And it can even present as an infant with like fasciculations. Basically, if you see a question about like a kid that's less than a year old with fasciculations, you can pretty much disregard the rest of the question. It's almost certainly going to be a spinal musculotrophy. If you see that in an adult, like a person in your 40s, 50s or 60s, that's ALS pretty much, right?

So, logarics disease, so fasciculations and an adult, logarics disease or amiotrophic allotroslerosis. If you see an epithelian very, very, very, very likely, especially like less than a year old, it's almost like 99% sensitive on MBM Es, not in the real world, on MBM Es for for wettening, cough, and disease. Also, again, called a spinal musculotrophy. Okay, now, what if you get a question about, you know, I guess, let me sort of present it as an information cluster, right? So, it's like a defecting chromosome 15. It can sort of present as like the happy puppets and drumming girls, right? So, like girls that are just like a little too happy, look, a lot more happier than you'd expect. And sort of presents as like obesity and like hyperfagia and like a boy, they'll have to like lock up their refrigerator because it just goes and like just eats himself to squorn. And it can arise if the paternal chromosome is not expressed in boys or the maternal chromosome is not expressed in girls. And it may actually shop weirdly with this genetic principle. I believe I've explained this in a prior podcast, but it's sort of like this disease can arise from problems with something known as uniparental disome. I really hope with this you're thinking about like pre-da-wily syndrome, in like boys or if you're looking at the female variant, that's the englman syndrome. Okay. Again, all these things, I promise you, there's a reason I'm making this podcast.

All these things are floridly high-o for exams. Now, what if you get a question about a kid with like large ears, large testicles, kind of like intellectual disability? I hope you're thinking about like fragile excess syndrome, right? So like large ears, large testicles, reloyque, remember it's a training group that repeats the sort of it's like CGG repeats. And it's actually in herithedin and I believe, come on divine thing. It's in herithedin and excellent, a dominant fashion. That's pretty classic for a fragile excess syndrome. Now, what if you get a question about like, you know, like some kind of opamuronuron disease that is kind of like secondary to an initially insulting like the developing brain, right? And by definition is like non-progressive, that's cerebral palsy, right? So again, pretty easy to recognize on tests. Now, what if you get a question about like a triad of like like like micro-andropatic hemolycanemia, low platelets, and like a curinofilure? I hope you're thinking about like H2 S, right? So like hemolytic aeromics syndrome, remember it can be caused by shigella or like E coli O1577. So Ehec and terrohemoragica E coli. And steric actually don't help for this disorder. And this is one of those times where you don't want to use antibiotics. If you use antibiotics, you get the question around with the USML Es because they could actually make the disorder worse, right? Because you give an antibiotic, kill the bog.

As you kill the bog, guess what spills into your circulation, the toxin, and then your screw, right? So you probably don't want to do that on the, on the, on the NB Ms, right? So they can present it as like hematoria, hypertension, low platelets, low hemoglobin, schistocytes on a bloodstream in a kid that has bloody diarrhea. Think about H2 S from Ehec or from shigella. Okay, now what if you get a question about a kid, you know that has like hypertension, and they tell you that your analysis is sort of showing like the smurfika red blood cells. And this kid had like some kind of like, uh, upper respiratory infection like two to six weeks ago. If you see this, I really, really, really, really, really, really, really, really, really, hope you're thinking about, uh, post infectious, glomerulone fritis. In fact, let me just sort of give you the high yields, relief into the nephritic syndrome, especially in kids, right? So remember, nephritic syndrome in general can present us like hypertension. They sort of present us like proteinuria, that's like two plus or less, right? So like they have like the less than three and a half grams in a 24-hour period, uh, proteinuria. Um, that's the defining feature of like nephritic syndrome. I remember if you do like your analysis in these kids, right? You'll find like the smurfika red blood cells.

Um, if you were to see like the Coca-Cola colode urine or like the T colode urine, and let's say they tell you that, oh, like two to six weeks ago, the kid had an upper respiratory infection or they show you like some labs and the complement levels are super low, right? So like hypo-complementemia. And then they tell you that, oh, the ASA titers, I mean, not ASA, ASO titers, right? So the antistriptolized O titers are are high or the titers for this antibody, like the anti-DN As B antibodies are high. And they tell you that, oh, they do an electron microscopy and they see like subipithelial hums. I really hope you're thinking about, again, post-infections or post-triptococcal chlamarylonophritis. Remember that antibody against the DN As B is actually pretty specific for like a strep-baskin infection, right? So group A strep, strep pyrogenies. So just sort of keep that in the back of your mind. And then remember, you know, the nephritic syndrome, right? So like, if you have like the C-3, uh, low C-3, um, like C-3 being specifically low, don't forget the association like the C-3 nephritica factor. That's a classic for like a type 2 MPG and so, right? So like a membrane proliferative of chlamarylonophritis. And then don't forget, right? The IGN Fropathy, right? To remember, it's systemic manifestation. Um, he knock a chlamaryl paper with a pop-able paper below the bodice and a kid with like abdominal pain, uh, think about a HSB. Uh, don't forget, right?

You want to avoid the rotavirus vaccine in those kids. Remember, they can actually, uh, having to suception. Uh, um, just again, one of those rare things you want to keep at the back of your mind. Okay. Now, uh, I guess since I've talked about nephritic syndrome, it will probably be a little bit unfair if I don't talk about a nephritic syndrome. I remember, right? This can show us like hypertension as well. Shows up as like three or four plus like protein organ exams. Um, they will form like more than three and a half grams of, uh, protein in the year, you're in a 24-hour period. They'll have like low albumin, right? So like hypoabuminemia, they can have like generalize the dima, they can have like anasarca, so like super, super badidema everywhere. Um, remember that these kids tend to lose like antithrombin 3 in the urine, right? Remember antithrombin 3? If I'm not mistaken, it's, uh, it inhibits factors. Uh, factors 10 and factor 2. Yeah, that's correct actually. How to think about that for a second. So it inhibits factor 10 and factor 2. Uh, so if you're losing 83, right? In your urine, you're not inhibiting factors 10 and 2. You form a ton of clot. Um, so those kids are like hyper, quaglable. Um, think about an ephritic syndrome with that. Um, remember, right?

These kids can get like renovin thrombosis, especially like, uh, if you're thinking about like membranostephrapathy, membranostephrapathy is probably one of the more hyper quaglable, um, etiologies of an ephritic syndrome. Uh, just tends to be as such, you know, more with clot than the others for the most part, at least on NB Ms. Um, I remember these kids may have like foamy urine, um, really in kids. You probably want to think more about like minimal change disease. Um, it's the most common cause of their phritic syndrome in kids. And don't forget that minimal change disease actually has an association with like, um, hematologic malignancies, right? So like leukemia is lymphomas. So again, another higher thing you want to keep in mind. And, um, uh, yeah, I think that's all I want to say. And I mean, don't forget, right? Minimal change disease, right? So that means on light, my crosscopy, there will be minimal change, right? So light, my crosscopy is usually like normal, although if you do like electron microscopy, you can see like the facement of the puttocythe or food process, food processes, okay? So that's one thing you want to keep at the back of your mind. Now, um, um, this is just something kind of weird, but it's high yield for reasons I won't talk about, but just accept it from me that it's high yield. But basically, if blood pressure in a kid is more than like the 95th percentile for like a six-age and height, that's basically the definition of hypertension in kids.

Um, and then actually, let me give you some interesting, um, scenarios here. What if you get a question about a kid that has like secondary hypertension, has like, uh, sort of like different blood pressures in your arms versus their legs, and they have like a delayed femoral pulse. That's a very nice way the mbimic can try to mess with your head. If you see that, I really, really hope you're thinking about like a quotation of the other. Remember, that's a associated, associated with like a toner syndrome, right? So don't forget toners. They can have like, a quotation of the other, they can have like, a copy of the other valve that can present as the other dissection, um, or the other stenosis, like early onset of the other stenosis. Um, don't forget, right? Toners also has an association like the web neck, right? So the cystic hygromis, um, those kids can also get like, horseshoe kidney, right? We're like the inferior pose of the kidney has stuck under the inferior mesenteric artery, okay? And they tend to be short, right? So if you have toners, you'd be short, and those kids tend to have like streak ovaries, right? So the, the, uh, genarage levels will be super high. So that'll be an example of like a hypogonadotropic hypogonadism, okay? Those are all hyal things you want to keep at the back of your mind with, uh, with a toner syndrome. Now, what if a kid has like secondary hypertension, and they have a flank mass that crosses the midline?

And you check their blood stream, and you find like increased catacoloming levels. Um, that's, uh, that's a neuroblastoma, right? Okay. Now, what if you get a question about a kid that has like secondary hypertension? Um, they have like episodic hypertension with headaches. Um, this disease has an association like neurofibromatosis, especially like NF1, and they have like increased levels of like metaneference in the urine. I really, really hope you're thinking about like a few chromosidoma, okay? This can also be a mass, a flank mass, but it does not cross the midline. It is not classified on image, okay? And remember for these kids, before you take them to surgery, you want to block out for receptors, first before you block beta receptors, right? So you can give them like phantolamine, that's like a reversible, um, alpha one receptor antagonist, or you can give a phenoxybenz, and in that's an irreversible alpha one receptor blocker, okay? Uh, before you block beta receptors, uh, and I mean, you want to be careful if you're taking those kids to surgery, right? If you poke, if you poke the tumor and release, that it color means into the circulation, um, they'll be a very interesting surgical case. Uh, they will just have like profound hypertension, like system block pressures going into like the 200s, uh, can cause like hemorrhagic strokes and all that crap, so you probably don't want that.

So block very well, like this is really don't like these before surgery, block out for receptors extensively, block beta receptors, and then you can take them to surgery, but it was being the hands of like a technically a savvy surgeon, if not, you can cause a lot of problems. Okay, now what if you get a question about a kid with like secondary hypertension, and I guess if they presented this problem in a female, she'll have like a biggest genitalia, or if they presented this problem in a guy, he'll have like precocious puberty, think about congenital adrenal hyperplegia with that. Okay, now what if you get a question about a kid with like hypertension, and mom was like bathing the baby and she pop it like a hard flank mass, and maybe this kid has like no iris, um, and you can treat this disease with a bacterial mysin. I really hope you want to think about a Wilms tumor, right? Remember, I think I can present this like flank mass, um, remember the WHR complex, right? So like Wilms and heridia, that's what I was talking about like having no iris, they can have like G, you are normalies, and they can have like a mental retardition, that's like the WHR complex. There is actually this I guess like look I like the solder, and it's called like Denny's Drish syndrome, like D-R-A-S-H, and then the Denny's is D-E-N-Y-S, it's kind of like a look I like syndrome, they also tend to have like genital anomalies, just sort of keep that at the back of your mind.

Okay, and um, yeah, I think that's all I'm going to say about that. Now, what if you get a question about like a rhino-pocodran mass in a kit, and this kid has like a large tongue, and one side of the body of this kid is bigger than the other side, so like hemi hypertrophy, that's like Beckwith a Widom and Syndrome, right? Remember this Beckwith Widom and Syndrome is like an overgrowth disorder, they can have like a hepato blastomas, that's what I'm referring to with a rhino-pocodran mass, they can actually, Beckwith Widom and Syndrome can actually present us as a newborn with seizures on an MBME, right? Because they also get like hyperplasia of the pancreatic eye-let cells, right? So they produce like a crap ton of insulin, so that can tank the blood glucose levels, they can be hypochloricemic and get seizures with that, right? Which is not an ideal outcome, right? So that's one actually fancish-mancy way that Beckwith Widom and Syndrome can present on MBM Es, another fancish-mancy way that can present on exams, not Beckwith Widom and specifically, but like seizures in a newborn, especially like hypochloricemic seizures, you want to think about like an infant of a diabetic mom, so those infants, right? They're exposed to like tons of sugar, utero from mom's blood, so their pancreatic eye-let cells, you know, hyper-undergo, like really like big-time hyperplasia, so they're hyper-insulinemic in utero, right? But when they're born, guess what they're not exposed to anymore?

A ton of glucose from mom's blood, right? So if they're not exposed to that ton of glucose from mom's blood and they are still producing those high levels of insulin because you can't say, oh, what's that kid is born? Those extra pancreatic eye-let cells just die of or atrophy or whatever, or in the way of those, so whatever. No, that doesn't happen, right? So they will steam up a regime like a crap ton of insulin, their body is no longer saying that high glucose from mom's blood, so they can actually tank their blood glucose levels and get like hypochloricemic seizures. And then another like seizure, if you're the considered shop in like neonates, I guess I'm talking about it is like hypochloric seizures, that can actually be something that also happens in an infant of a diabetic mother, right? So infant of diabetic moms, they can have two causes of seizures when they're born, right? Hypochloricemia and hypochloricemia. But hypochloricemic seizures can also be like a fan-seesh monthly presentation of the George syndrome, right? So remember, those people, the third and fourth of our angiopalaches don't form so well, so they don't form like the thymus, right? So they get like T cell issues, so like viruses, fungal infections, and then they also get like hypochloricemia because their paraphereoclans do not form, okay? So I know this is sort of going on for long, you know what? Let me just say one more sinter, and we guess calling it a day.

I'm also kind of tired, I've had like a long, long, long, long diet work. Okay, wait if you get a question about a kid that has like hearing problems, has visual problems, and has like renal failure, and let's see, they tell you that oh, his uncle had similar issues. I really will be thinking about like Alport syndrome, remember it's a genetic disorder, it can arise from like a collagen for mutation, right? In fact, for MDM, you kind of want to remember that it can be inherited in an Ozomo dominant fashion, that's why it's a genetic disorder in the first place, and it arises from like a COL for a five mutation, that's like an actual mutation, you actually want to remember the letters and the numbers, right? So COL for a five, so collagen for a, I think it's probably like a subset of collagen type 4 collagen. So remember the mnemonic, right? Can't see, can't pee, can't hear high sea, right? So can't see visual problems, can pee renal problems, can't hear high sea, hearing problems, because type 4 collagen basically constitutes those organs, right? Like certain key elements of those organs, so that's why they have those problems. So I'm going to go ahead and stop here, hopefully you've enjoyed this and I really hope you get a lot from it, and as I end roundup, right, I offer like one on one tutoring for the USML Step 1, 2 CK, 2 CS, Step 3, the medicine-entrinating exam, medicine-board exams, believe it or not, I've actually two other people for those.

I also offer one on one tutoring for like pre-clinical medical exams, 30-year-shelf exams, organic chemistry, physics, general chemistry. Then I do like application advising and prep for like med students applying to med school. So like ERAS, I mean AMCA-SAPS or sorry, those will be college students applying to med school. So like AMCA-SAPS or med students applying to residency, those will be ERAS apps. I don't want to one like consulting, application prep, personal statements, mock interviews, all that stuff. I mean I've been on an admissions committee of like a top two med school for like a year, so I have a ton of experience. And this last cycle essentially everyone advised matched, so take that for what you will. And then I also offer like a 12-day like USML course, test-taking strategies, we go over like all the content that you'll be responsible for in like 12 days literally. Small groups sitting like 5-7 people probably hold my next iteration in June of this year, probably sometime after like June 3rd for like two weeks. So just send me an email if it's something I trusted in and I actually have more information on you know my website. So just check it out, please share this podcast with your friends and your med school colleagues or whatever. I wish all the best. I'll see you in the next podcast. Have a wonderful day and God bless you. Thanks.

Cystic Fibrosis (CF).

Delta F508 mutation in the CFTR gene.

Typical: <15 minutes, single episode, generalized tonic-clonic. Atypical: >15 minutes, recurrent within 24 hours, or focal seizure type.

Café-au-lait spots and Lisch nodules (iris hamartomas).

Delayed or diminished femoral pulses compared to upper extremity pulses.

ACTH (Adrenocorticotropic Hormone).

Hearing loss, visual problems, and renal failure (Can't see, can't pee, can't hear).

COL4 A5 mutation (a type of collagen IV defect).

Nephritic: Hematuria, hypertension, low C3 complement. Nephrotic: Massive proteinuria (>3.5g/24h), hypoalbuminemia, edema.

Neurofibromatosis Type 2 (NF2).

Hypotonia, fasciculations, and weakness.

Lennox-Gastaut Syndrome.

Maternal non-disjunction or Robertsonian translocation.

Hearing loss, visual problems, and renal failure (Can't see, can't pee, can't hear).

COL4 A5 mutation (a type of collagen IV defect).

Nephritic: Hematuria, hypertension, low C3 complement. Nephrotic: Massive proteinuria (>3.5g/24h), hypoalbuminemia, edema.

Neurofibromatosis Type 2 (NF2).

Hypotonia, fasciculations, and weakness.

Lennox-Gastaut Syndrome.

Maternal non-disjunction or Robertsonian translocation.