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submitted by lpp06(30),

I have no idea what the diagnosis is (HD is tough to rule in since they're indicating a disease with maternal anticipation, which I think is rare for HD?)

However - he has extrapyramidal movement disorders with no signs of damage to sensory columns (intact sensation), cerebellar (no intention tremor/dysmetria), and frontal lobe (normal mental status exam). I can't explain why the increase in DTR, but EPS + nothing else that can definitively rule in another area means this is most likely basal ganglia

ootscoot  I agree with you - I was thinking HD when they alluded to anticipation, but was thrown off by the maternal part. Does anyone know what they're alluding to when they said "unable to fix his gaze on one point or protrude his tongue for more than 30 seconds?" Is that describing EPS? Oculogyric crisis is involuntary prolonged upward gazing (not an inability to fix his gaze) & orofacial chorea is involuntary repetitive movements (not inability to protrude the tongue). Am I missing something? It's entirely possible at this point of dedicated. My brain is gobblygook +3  
koko  Isn’t it all part of the choreiform movements the eyes and tounge.... +  
doublethinker  Trick is, I think, that HD is Autosomal Dominant. Though it may be rare to get anticipation through the mom (I forget the exact reason why but it's something with genetics) I think they just wanted to emphasize it is possible. +  


submitted by azibird(177),

This really sounds like it's describing Alport syndrome, but Alport syndrome is X-linked DOMINANT! What is going on here? Is this a mistake? How to explain calling it X-linked RECESSIVE?

Alport Syndrome Mutation in type IV collagen -> thinning and splitting of glomerular basement membrane. Most commonly X-linked dominant. Eye problems (eg, retinopathy, anterior lenticonus), glomerulonephritis, sensorineural deafness; “can’t see, can’t pee, can’t hear a bee.” EM—“basket-weave” appearance due to irregular thickening of GBM

cneal46  lolll apparently 15% of cases are inherited x-recessive. I just ignored the inheritance part and answered based on the functions of all those proteins +1  
doublethinker  According to the rare diseases government website, it's OFTEN X-linked recessive: "Alport syndrome can be inherited in three different ways. About 80 percent of cases are caused by mutations in the COL4A5 gene and are inherited in an X-linked recessive pattern." Question def threw me off tho, because I was continuously thinking it's X-linked dominant... https://rarediseases.info.nih.gov/diseases/5785/alport-syndrome +  


submitted by chandlerbas(97),
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:egdnLe

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lilyo  @chandlerbas is this pneumonic in order of most common to least common, as in is prostate cancer the most common cause of metastasis to the bone regardless of wether the patient presents with osteoclastic or osteoblastic lesions? +  
hello_planet  One addition: Breast cancer causes mixed metastases, whereas lung cancer causes either lytic or blastic depending on the cancer type. Small Cell Lung Cancer causes blastic lesions and Non-Small Cell Lung Cancer causes lytic lesions. First Aid 2019: pg. 224 +3  
doublethinker  Uworld has a great Venn diagram on all the bone mets. +1  


submitted by aladar50(40),
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oS three’s 001 etsdisne,r nad hte lacepvenre eafrt 2 seary si =01 ta teh binngge,in 5+ ni het tsifr ,yaer 1+0 csedon ,yrea dan -3 thta ,deelah for a alott ercveaenlp of 22 nsrsedeit or 1220/=220 tnce.epr sTu,h pvnelrecea = avboe the rdtdsnaa. For ci,ndeicne ’ist 15 enw esacs otu of 09 siresdten erov the 2 reysa (100 otalt ienetrsds – 01 htta yraeadl dah lecur,s) or 51 ewn sruelc pre 180 ntirsy.aaee⋅tp Tsih wuold eb 833. new ersclu rpe 0100 tr⋅pseaaytien fi you xdraoatlpete it tuo -- yasaclibl 00()1/1800 * 15 -- suht, eicndeicn = vabeo the tnrsdada.

zelderonmorningstar  Okay I feel like an idiot cause I thought: Above the Standard = Doing a good job keeping old people from getting ulcers. Thumbs up. Below the Standard = I wouldn’t let my worst enemy into your ulcer ridden elder abuse shack. +52  
aladar50  @zelderon Ohh damn. I could totally see how one could view the answer choices that way. I think it is important to read how they are phrased - they are asking if the center is above THE standard or below THE standard. The “standard” is an arbitrary set point, and the results of the study are either above or below that cut off. Maybe if it was “above/below standards” that would work. Also, being above the standard could either be a good thing or bad thing. If say you were talking about qualifying for a competition and you have to do 50 push ups in a minute, then being above=good and below=bad. In this case, having more ulcers than the standard = bad. +4  
saynomore  @aladar Thank you!!! but how did you get the 15 new ulcers per 180 patient⋅years? I mean I understand the 15 part, but not the second part ... hence why I messed this up, lol :| +2  
aladar50  @saysomore Because the study is looking at 100 residents over a period of 2 years. Since 10 already had the disease at the start, when looking at incidence you only include the subjects that have /the potential/ of developing the disease, so 90 patients over 2 years. This would be 90 patient⋅years per year, or a total of 180 patient⋅years over the course of the study. +7  
sympathetikey  @zelderonmorningstar I thought the same exact thing. Had the right logic, but then just put the backwards answer. +3  
kai  I wonder if they chose this wording on purpose just to fuck with us or if this was accidental. My guess is there's some evil doctor twirling his thumbs somewhere thinking you guys are below the standard. +14  
symptomatology  Got it wrong!messed up in understanding options, Btw, 15/90 is somewhat 16 percent and their standerd is 50/1000 5 percent!.. this is how i knew that incidance is way up! +  
donttrustmyanswers  Patients with an ulcer are not immune to getting new ulcers --> You should include all patients at risk. But either way, the answer is the same as long as you can read NBME speak. +  
doublethinker  Damn, guess my reading comprehension is not "up to the standard" of the NBME writers. Smh. +  
prolific_pygophilic  If you forgot that its patient years (15/180) not (15/90) you still get the right answer because they are both above 5% :). +  


submitted by titanesxvi(81),
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wyh otn eedersac AC ycatiivt in teh iromxapl t?ulbue hsti oasl odulc aedl to etimbcalo aii.osscd

ergogenic22  carbonic anhydrase inhibitors can cause Type 2 RTA but it is not the cause here (cystinosis) +  
doublethinker  Yeah, I said CA too. Problem is that CA deficiency wouldn't lead to lack of reabsorption of all the ions listed. +