Pathologies that got your attention.

[Anastomoses]

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Some pathologies or medical instances just really catch your attention for whatever reason. Which pathology or medical condition that you've read about or run across has made a big impression or caused you grave fear?

For me osteogenesis congenita imperfecta caught my attention quite a bit.
Anything involving micrognathia hits viscerally for whatever reason. Maybe to do with my obsession with beautiful jawlines.
Leprosy.
Alzheimer's

 

[SurgeDO]

huntington's.

i cannot figure out how the numbers for this disease are consistent year in and year out. the mutation is not evolutionary fit, so you would think this disease would die out.

 

[GangaMaster]

huntington's.

i cannot figure out how the numbers for this disease are consistent year in and year out. the mutation is not evolutionary fit, so you would think this disease would die out.

One reason I can think is Males over 35 reproducing causing a new autosomal dominant disease in their gene pool.

 

[ulikedaggers]

Some pathologies or medical instances just really catch your attention for whatever reason. Which pathology or medical condition that you've read about or run across has made a big impression or caused you grave fear?

For me osteogenesis congenita imperfecta caught my attention quite a bit.
Anything involving micrognathia hits me hard.
Leprosy.
Alzheimer's

CVA involving the basilar artery.

 

[SurgeDO]

One reason I can think is Males over 35 reproducing causing a new autosomal dominant disease in their gene pool.

that would add the huntington gene to the gene pool. there are obviously those who do not know they possess the gene, but i would think that those who know would be less likely to reproduce.

 

[ulikedaggers]

that would add the huntington gene to the gene pool. there are obviously those who do not know they possess the gene, but i would think that those who know would be less likely to reproduce.

Those that know might be less likely to reproduce, but the number of new mutations and people who don't know they have it (or are at risk to have it) is much higher. Also the fact that people are having kids at a younger age now. Mom has a kid at 16, then that kid has a kid at 20. Mom is only 36 and might not show signs of huntington's until age 40+. Now you have the possibility of 3 new huntington patients in the population.

 

[arkdoc]

that would add the huntington gene to the gene pool. there are obviously those who do not know they possess the gene, but i would think that those who know would be less likely to reproduce.

But the age of onset is usually after the average male has reproduced. Also, some that have a family history don't want to know that they have it and it is 50% risk, so they still reproduce. And still with anticipation, a family can have the gene, but the repeats haven't reached the critical level to have the actual manifestation and thus a new onset of the disease can be experienced after one has already had children.

 

[SurgeDO]

Those that know might be less likely to reproduce, but the number of new mutations and people who don't know they have it (or are at risk to have it) is much higher. Also the fact that people are having kids at a younger age now. Mom has a kid at 16, then that kid has a kid at 20. Mom is only 36 and might not show signs of huntington's until age 40+. Now you have the possibility of 3 new huntington patients in the population.

But the age of onset is usually after the average male has reproduced. Also, some that have a family history don't want to know that they have it and it is 50% risk, so they still reproduce. And still with anticipation, a family can have the gene, but the repeats haven't reached the critical level to have the actual manifestation and thus a new onset of the disease can be experienced after one has already had children.

understandable. good points.

 

[Ionian]

http://commons.wikimedia.org/wiki/File:Crouzon_Syndrome.jpg

Thought it was fake the first time I saw it...

 

[Mad Jack]

One of the worst ways I've ever seen to go was a bad case of systemic scleroderma. Your body becomes a thick prison of scar tissue that you slowly suffocate to death inside of, and there is no way of knowing how bad it will be or whether it will stop progressing. Worse yet, we don't fully know what causes it, and it hits people that are on the younger side (30s-40s).

Worst way overall though has to be GVHD. One of my favorite patients had it. I wouldn't wish the struggle they went through on anyone. Imagine your every waking moment being pain of the worst sort, your skin sloughing off and your insides bleeding as your body slowly claims itself. Nothing we could do, it was awful, and it took months.

http://commons.wikimedia.org/wiki/File:Crouzon_Syndrome.jpg

Thought it was fake the first time I saw it...

Not quite as bad as http://en.wikipedia.org/wiki/Harlequin-type_ichthyosis in appearance.

 

[Psai]

Locked in syndrome. You can think but nothing in your body moves except your eyes. No thanks.

 

[Anastomoses]

http://commons.wikimedia.org/wiki/File:Crouzon_Syndrome.jpg

Thought it was fake the first time I saw it...

Locked in syndrome. You can think but nothing in your body moves except your eyes. No thanks.

I looked these up...wow.

LIS is nightmarish.

 

[ulikedaggers]

CVA involving the basilar artery.

Locked in syndrome. You can think but nothing in your body moves except your eyes. No thanks.

👍! Scariest thing ever.

 

[Winged Scapula]

Agree with locked in syndrome; terrifies me.

In regards to Huntington's, some at risk simply don't want to know. Folk singer Woody Guthrie died from the disease and his son Arlo was criticized for having children and refusing to be tested (here's a very old article about it). Out of Woody's 8 children, only 2 inherited the gene and unfortunately, expressed it.

 

[mcloaf]

Harlequin ichthyosis. I apologize in advance.

 

[Anastomoses]

Harlequin ichthyosis. I apologize in advance.

oh dear.

 

[chasm-e-baddoor]

Locked in syndrome. You can think but nothing in your body moves except your eyes. No thanks.

There was a guy with locked-in syndrome who authored a book......by using a blinking code to communicate

 

[HatWobble]

Aphthous ulcer. Gee golly those buggers hurt!

 

[Bacchus]

Aphthous ulcer. Gee golly those buggers hurt!

You know what, I agree with you man. They're awful. I have them triggered usually by stress and its often hard to avoid that, haha.

 

[Bacchus]

After doing a neuro elective this year, Parkinson Disease scares the crap out of me. I met quite a few patients that just froze whether it be at the dinner table, on the toilet or the couch. I saw a patient taking sinemet q90min. Most people can't remember to take BIDs, let alone a pill q16X/d. And, if you don't, the effects are disastrous (at least to me... hate to just be "frozen.")

 

[Psai]

After doing a neuro elective this year, Parkinson Disease scares the crap out of me. I met quite a few patients that just froze whether it be at the dinner table, on the toilet or the couch. I saw a patient taking sinemet q90min. Most people can't remember to take BIDs, let alone a pill q16X/d. And, if you don't, the effects are disastrous (at least to me... hate to just be "frozen.")

Really? One of our professors told us that you can use entacapone to prolong L-dopa's effect.

 

[Etorphine]

pathologic personality disorders with no insight

 

[D elegans]

ALS
**** that would suck

 

[Smurfette]

Harlequin ichthyosis. I apologize in advance.

I've seen a baby with that. Definitely horrifying.

Truth is, the longer I'm in medicine, the longer the list of terrifying diseases gets. Locked-in syndrome, Pick disease, ALS and other degenerative neuro diseases, just about any parasite/fluke/nematode/icky creepy crawly thing that "moves in" to your body (see: dracunculiasis as an example)....

 

[Mad Jack]

I've seen a baby with that. Definitely horrifying.

Truth is, the longer I'm in medicine, the longer the list of terrifying diseases gets. Locked-in syndrome, Pick disease, ALS and other degenerative neuro diseases, just about any parasite/fluke/nematode/icky creepy crawly thing that "moves in" to your body (see: dracunculiasis as an example)....

Neurocysticercosis makes me terrified of having my food prepared by anyone else when I am travelling in developing countries. Ugh, parasites...

 

[DrOwnage]

Fatal Familial Insomnia.

 

[Bacchus]

Really? One of our professors told us that you can use entacapone to prolong L-dopa's effect.

Anticholinergics, MAOs or dopamine agonists only work so far into the disease. Advanced disease, well, not much works. The patient wasn't a candidate for DBS, not a person who was getting terribly much effect from the antichols/agonists.

 

[PB n J]

Pinworms.

 

[Anastomoses]

Fatal Familial Insomnia.

Whoa...totally thought you were making that up. Hm...not sure where to put it on my list of things I definitely don't want to die of.

Pinworms.

Compared to other things, they are borderline cute.

 

[fancymylotus]

Harlequin ichthyosis. I apologize in advance.

I really shouldn't have googled that

 

[dr zaius]

Severe Crohn's disease.

Basically anything that can give you an enterocutaneous fistula.

 

[Immunophile]

Not as debilitating as the ones mentioned above: uncombable hair syndrome.

 

[FSUseminoleEM1]

Many viruses, notably Marburg.

 

[Chrissisissi]

Wernicke Korsakoff Syndrome. People drink so much that they lose their memory and pretty much their minds. You can also get it if you're malnourished in any way.

 

[tco]

Viral hemorrhagic fever was on the ddx of one of my patients. Until that moment, it was just something cool I had read about and had seen movies about. At that moment, it was pretty nerve-racking.

Sent from my SCH-I535 using Tapatalk

 

[SurgeDO]

holoprosencephaly

 

[gregoryhouse]

A lot of ones I was thinking of have been mentioned. I'll add Creutzfield-Jakob disease.

Anything that causes you're brain to start diminishing is more frightening than any other possible disease in my opinion.

 

[link2swim06]

A lot of ones I was thinking of have been mentioned. I'll add Creutzfield-Jakob disease.

Anything that causes you're brain to start diminishing is more frightening than any other possible disease in my opinion.

On a similar note fatal familial insomnia would suckkkkkkkkk.

 

[evilbooyaa]

CJD, Parkinson's, Alzheimer's... basically anything where the mind is slipping in a (near) irreversible fashion is terrifying for me.

 

[Southplains]

I thought Lesch-Nyan was interesting and crazy.