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Does anyone have a good mnemonic or buzzwords way of memorizing these? I can't get these down if my life depended on it. Thanks
Lysosomal Storage Diseases
- Thread starter Kluver_Bucy
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oldking said:
My thoughts exactly.
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Kluver_Bucy said:
I had a similar problem. There is a previous post on this topic, with some things there.
I gave up, and figured if I havent learned to tell them apart in the last two years, I probalby wont learn them in the next few weeks. Whatever I know, I know.
Something to remember though: Hurler's vs Hunters DZ.
Hunter's has no corneal clouding because a hunter need to use his eye's turing the hunt.
hope this helps somewhat.
S
saiyagirl
viper said:
you know, i have a hard time remembering all these diseases too. Maybe making some general statements will help versus trying to memorize all itty bitty details. Please correct me if I make any mistakes here:
1. They're all autosomal recessive, with the exception of Fabry's and Hunter's, which are both X-linked recessive.
2. Hurler and Hunter's both start with an H, and both accumulate Heparan sulfate. (Hopefully that will help you remember that they accumulate dermatan sulfate too).
3. Ashkenazi Jews have a higher risk of Gaucher's, Niemann-Pick, and Tay-Sachs.
4. Gaucher's spares the Brain.
5. Remember: "globoid cells" = Krabbe's.
6. "Cherry-Red" (spot on macula) is hyphenated. So are "Niemann-Pick" and "Tay-Sachs."
It's a start.
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Nice.
1. Hunters is X-linked. I view a Hunter shooting his bow at a X (target).
2. Niemann-Picks - Sphingomyelinase. No man picks is nose with is Sphinger (finger).
3. As above regarding Hunter's vs Hurlers. Hurlers you get corneal clouding, so you cannot be a good hunter.
4. HurLer's is alpha-L-iduronidase. Hunters, which is a similar disease, is the other one (iduronate sulfatase). Or in Gojanese. "I just remember one, then know that the other one is the other one."
Best of luck.
1. Hunters is X-linked. I view a Hunter shooting his bow at a X (target).
2. Niemann-Picks - Sphingomyelinase. No man picks is nose with is Sphinger (finger).
3. As above regarding Hunter's vs Hurlers. Hurlers you get corneal clouding, so you cannot be a good hunter.
4. HurLer's is alpha-L-iduronidase. Hunters, which is a similar disease, is the other one (iduronate sulfatase). Or in Gojanese. "I just remember one, then know that the other one is the other one."
Best of luck.
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What the hell are Ashkenazi Jews?
S
saiyagirl
Q. What do you mean by Ashkenazi Jew? I just know Im Jewish is that enough?
A. Ashkenazi means that your descendents - parents or grandparents or great grandparents - were born in Eastern Europe (Poland, Russia, and Germany). The vast majority of American Jews are of Ashkenazi descent. The remainder are Sephardi or Mizrahi, which means their forebears were originally from Spain, Portugal, North Africa or the Middle East.
Q. Why is this study limited to Ashkenazi Jewish people?
A. Up to the 17th century, the Ashkenazi Jews in the Pale of Europe encountered a combination of plagues, wars and anti-Semitic persecution, contracting the population to an estimated few hundred thousand. Combined with a long history of isolation and virtually no intermarriage, the Ashkenazi population today is derived from a relatively limited number of founders. The gene pool of Ashkenazi Jews, therefore, is unique and more homogeneous than most other populations. It is easier to spot genetic differences in this group, precisely because there is so much similarity in the genetic makeup.
from a study website at Albert Einstein: http://www.aecom.yu.edu/home/longevitygenesproject/q-and-a.htm
A. Ashkenazi means that your descendents - parents or grandparents or great grandparents - were born in Eastern Europe (Poland, Russia, and Germany). The vast majority of American Jews are of Ashkenazi descent. The remainder are Sephardi or Mizrahi, which means their forebears were originally from Spain, Portugal, North Africa or the Middle East.
Q. Why is this study limited to Ashkenazi Jewish people?
A. Up to the 17th century, the Ashkenazi Jews in the Pale of Europe encountered a combination of plagues, wars and anti-Semitic persecution, contracting the population to an estimated few hundred thousand. Combined with a long history of isolation and virtually no intermarriage, the Ashkenazi population today is derived from a relatively limited number of founders. The gene pool of Ashkenazi Jews, therefore, is unique and more homogeneous than most other populations. It is easier to spot genetic differences in this group, precisely because there is so much similarity in the genetic makeup.
from a study website at Albert Einstein: http://www.aecom.yu.edu/home/longevitygenesproject/q-and-a.htm
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I did the Genetic Disorder chapter from Robbins Qbook, and it helped quite a bit. Check it you if you have it.
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PICTURE ASSOCIATION METHOD
I utilized a story assoaciation method to memorize these diseases and it works. The objects used to construct the story are not relevant but serve a good association easier to recall.
Picturize each element of the story and draw the picture once in your book
1. Nieman is the name of a river that originates in Belarus and flows through Lithunia. It is not a river of wate but a river of sphingomyelin. It is very turbulent so sometimes the zebras (zebra inclusion bodies) get washed away. Also some skulls (microcephaly) and foamy macrophages also float in this river of myelin.
2. Tay and Sach are tribes of Ashkenazi Jews that have cherry red spots in macula, blind, psychomotor ******ed. The live on the Side of a city named Ganglion ( ie gangliosides) as people often keep the sick out of the city.
3. Gaucho's work very hard in the farms so need a lot of Glucose and they have made an indigenous drink BRAND NAMED Glucocerebroside.
Tay is actually a vietnamese tribe. You can cook up our own story that would make it even easier to remember. If you found this method useful pls mail me at [email protected]. We can share some more memory aids for other problem areas.
For those who rerad it and didn't like it I'm sorry for wasting your prercious time.
I utilized a story assoaciation method to memorize these diseases and it works. The objects used to construct the story are not relevant but serve a good association easier to recall.
Picturize each element of the story and draw the picture once in your book
1. Nieman is the name of a river that originates in Belarus and flows through Lithunia. It is not a river of wate but a river of sphingomyelin. It is very turbulent so sometimes the zebras (zebra inclusion bodies) get washed away. Also some skulls (microcephaly) and foamy macrophages also float in this river of myelin.
2. Tay and Sach are tribes of Ashkenazi Jews that have cherry red spots in macula, blind, psychomotor ******ed. The live on the Side of a city named Ganglion ( ie gangliosides) as people often keep the sick out of the city.
3. Gaucho's work very hard in the farms so need a lot of Glucose and they have made an indigenous drink BRAND NAMED Glucocerebroside.
Tay is actually a vietnamese tribe. You can cook up our own story that would make it even easier to remember. If you found this method useful pls mail me at [email protected]. We can share some more memory aids for other problem areas.
For those who rerad it and didn't like it I'm sorry for wasting your prercious time.
Fabry drinks a cup (ceramic - ceramide trihexoside) of milk (lactose - galactosidase deficiency) and has allergic reactions: skin lesion (angiokeratomas), cardiovascular and renal complications.
Gaucher: Glucher (Glucocerebrosidase deficiency) can gauge (brain intact).
Gaucher: Glucher (Glucocerebrosidase deficiency) can gauge (brain intact).
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Honestly, forget the mnemonics. Just memorize them, with repetition.
I've, literally, probably studied the associated chart in FA on the magnitude of 40 times, and can now reproduce it by memory, and it's not that big of a deal.
It also helped doing Rx questions.
In the end though, if you get a question on one of those diseases (which you probably will) and can't answer it because you didn't spend the time, you'll be kicking yourself. So just do it.
I've, literally, probably studied the associated chart in FA on the magnitude of 40 times, and can now reproduce it by memory, and it's not that big of a deal.
It also helped doing Rx questions.
In the end though, if you get a question on one of those diseases (which you probably will) and can't answer it because you didn't spend the time, you'll be kicking yourself. So just do it.
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It's nice to see you break your SDN-virginity with a lysosomal mnemonic. Yay for first-posters!
Recently took the STEP and FA mnemonics just don't stick. The only good one is "Niemann Picks his nose with his Sphinger".
For everything else, I recommend visual mnemonics by Pixorize, as well as flashcards by Anki to rep facts.
For everything else, I recommend visual mnemonics by Pixorize, as well as flashcards by Anki to rep facts.
