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p + q = 1 p^2 + 2pq + q^2 = 1 if q^2 = 1/1600 = 0.00063 then q = sqrt(q^2) = 0.025 solve for p to get p = 1 - r = 1 - 0.025 = 0.975 the heterozygous carriers = 2pq = 1 - p^2 = 1 - 0.95 = 0.5 q^2 can be dropped b/c it's much smaller than p^2. The deletion is responsible for 80% of the mutations. 0.8 x 0.5 = 0.04 = 4/100 = 1/25

There might be an easier way to do this, but it worked for me.

thechillhill  So apparently I don't know how to format very well. Sorry! +1  
pakimd  So because i couldnt spend more than a minute on this question and honestly didnt recall the Hardy-Weinberg equation this is how i solved it under a minute: so you know in a given population half of them will be carriers since its an autosomal recessive disease Aa Aa= AA aa Aa Aa so of that half 80% are due to deletion mutations and 20% are due point mutations by that logic 80% of half into 20% of half will give you 1/25 +  

Itraconazole requires the acidic environment of the stomach to be absorbed. Omeprazole inhibits the H+/K+ pump of the stomach, thereby decreasing the acidity of the stomach. So when the patient takes Omeprazole and Itraconazole together, Itraconazole won't be absorbed into the body. That's why it has no effect.

It's recommended to take medications at least 2 hours prior to taking an antacid.

necrotizingfasciitis  Just adding support to the above explanation: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3671798/ +1  
pakimd  do all azoles or just itraconazole only requires an acidic environment to be absorbed? +1  
chandlerbas  just itraconazole and posaconazole +1  
lilyo  @chandlerbas, where did you find this information? I was looking over this on FA but they do not mention it and I would like a bit more information. Thanks! +  
chandlerbas  haha no stress! the article above submitted by @necrotizingfasciitis does a descent job explaining it, however its not good enough, I looked into a bit more on uptodate but wasn't fruitful in my endeavours. goodluck! +  

submitted by ergogenic22(80),

aging results in increased arterial stiffness (change in Extra Ccellular Mmatrix composition - decreased elastin, increased collagen deposition); ISH is responsible for 60-80% of HTN cases in patients > 60. Also, decreased compliance as a result of aging causes increased pulse pressure

rio19111  why not dev. of coronary atherosclerosis? +1  
pakimd  @rio19111 i think the Q stem is asking in absence of any lesions of blood vessels; the number and severity of which increase with age. So with normal aging SBP should increase in isolation which may then result in the development of coronary atherosclerosis- if that makes sense +  
chandlerbas  aging causes decreased compliance in large arteries: (1) accumulation of collagen and calcium (2) degraded elastin and large arteries accumulation and it also may have something to do with lipofuschin +  

submitted by thomas(4),

They tell you that the kid has no clavicle. This means the defect is in membranous ossification, NOT endochondral, so the pathology is NOT going to involve the chondro-whatever cells. decreased ALK is consistent with osteoblast defect.

pakimd  isnt increased alk phos consistent with increased osteoblastic activity? +  
eacv  @pakimd Yes ! ALK phos is a measure of osteoblast work, if the are not working is LOW as in thix px. +  

submitted by hayayah(503),

A big thing here too is noticing that the ALP is decreased. Osteoblast activity is measured by bone ALP. I think that was the main focus here and not that you necessarily need to know the CBFA1 gene mutation.

sympathetikey  Exactly. That's the only way I got to the answer. +  
pakimd  isnt increased alk phos consistent with increased osteoblastic activity? +  
champagnesupernova3  A defect with chondrocytes would cause an short limbs like in achondroplasia so those are ruled out +  
pg32  Exactly. Can also be helpful if you remember that the clavicles are formed by intramembranous ossification rather than endochondral; that allows you to rule out the chondroblast/cyte answer choices. +  

submitted by rio19111(5),

I think a lot of you missed the point. The answer is Cortisol because it helps maintain blood pressure even in the setting where he is malnourished.

rio19111  FA 2019, Pg. 329 +1  
pakimd  according to pathoma, cortisol is the hormone neccessary for life. in a condition like the one presented in the Q-stem the most important hormone will be cortisol. +1