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Welcome to zolotar4โ€™s page.
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submitted by tl285(1), visit this page
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i was definitely thinking essential tremor as soon as I read "gets worse when he feels angry or depressed." makes sense that his mom and grandma has it since it's commonly familial. it can either be intention (which they said it's not in the question stem) or also postural. also makes sense that he can't fix his gaze (since it can affect the head) or keep his tongue stuck out. all of this would point to cerebellum and agree with previous comments it didn't seem like the classic HD presentation which led me to getting the q wrong so idk guess i have more to learn...

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zolotar4  I struggle with Essential Tremor(ET) too. So essential tremor is intentional or postural - meaning tremor with action or a sustained position even against gravity. So , for example, our patient would've either had difficulty writing or tremor with their arms outstretched. Also ET usually presents over 40, w/o anticipation. +
zolotar4  here's a visual for postural tremor -http://hkuelcn.med.hku.hk/postural-tremor/ +
an1  Lack of intention tremor or dysmetria rules out cerebellar disease. Tremor can be from a lot of areas in the brain +


submitted by tl285(1), visit this page
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i was definitely thinking essential tremor as soon as I read "gets worse when he feels angry or depressed." makes sense that his mom and grandma has it since it's commonly familial. it can either be intention (which they said it's not in the question stem) or also postural. also makes sense that he can't fix his gaze (since it can affect the head) or keep his tongue stuck out. all of this would point to cerebellum and agree with previous comments it didn't seem like the classic HD presentation which led me to getting the q wrong so idk guess i have more to learn...

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zolotar4  I struggle with Essential Tremor(ET) too. So essential tremor is intentional or postural - meaning tremor with action or a sustained position even against gravity. So , for example, our patient would've either had difficulty writing or tremor with their arms outstretched. Also ET usually presents over 40, w/o anticipation. +
zolotar4  here's a visual for postural tremor -http://hkuelcn.med.hku.hk/postural-tremor/ +
an1  Lack of intention tremor or dysmetria rules out cerebellar disease. Tremor can be from a lot of areas in the brain +


submitted by myriad(2), visit this page
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Just wondering, could this patient's presentation also be the result of an Imperforate Hymen or Transverse Vaginal Septum? I was looking for those in the answer choices, and thought Ectodermal Dysplasia might be referring to either of those.

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zolotar4  so was curious, found on wiki - "If untreated or unrecognized before puberty, an imperforate hymen can lead to peritonitis or endometriosis due to retrograde bleeding." - our patient has no symptoms besides never having a menstrual period and probably would've been seen in the clinical presentation. +1
jj375  Also I think that if it was imperforate hymen or Transverse Vaginal Septum then the patient would have normal axillary and pubic hair. But the lack of these things made me think it was more hormonal +1


submitted by bwdc(697), visit this page
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Functional parathyroid adenomas can cause elevated parathyroid hormone (PTH), which results in hypercalcemia and hypophosphatemia. Hypercalcemia is characterized by the rhyming symptoms: stones (renal, biliary), bones (including bone pain to osteitis fibrosa cystica), groans (abdominal pain, n/v), thrones (polyuria, constipation), and psychiatric overtones (from depression to coma).

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drmohandes  Great explanation, thanks. Does anyone know why this patient is anemic though? Is there some link between hyperparathyroidism and anemia I am missing? +5
drmohandes  *Patient erythryocytes = 3million/mm3 (normal 3.5 - 5.5) +2
melchior  From googling, it looks like it just happens. One author says that high concentrations of parathyroid hormone downregulate erythropoietin receptors. Regardless, it corrects after parathyroidectomy, showing that parathyroid hormone likely causes it, somehow. https://www.ncbi.nlm.nih.gov/pubmed/10790758 https://academic.oup.com/jcem/article/97/5/1420/2536309 +2
flvent2120  So I understand why parathyroid can be the right answer, but why couldn't kidney be correct? This is just my overthinking things, but renal cell carcinoma can present with PTHrp leading to hypercalcemia +2
zolotar4  @flvent2120 "Historically, medical practitioners expected a person to present with three findings. This classic triad[9] is 1: haematuria, which is when there is blood present in the urine, 2: flank pain, which is pain on the side of the body between the hip and ribs, and 3: an abdominal mass, similar to bloating but larger. (10-15% of patients)" -Wiki. I'm thinking the presentation would be different. Also male predominance, latter decades (6th and 7th). +2
aaa1  "Functional parathyroid adenomas can cause elevated Parathyroid (PTH) , which results in hypercalcemia and myopathies (?) Hypercalcemia is characterized by the following symptoms: stones, bones, groans, thrones, and psychiatric overtones" I decoded 90% of it +2


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