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-   -   Weakness, Cataract, Frontal baldness, and Testicular Atrophy? (https://www.usmle-forums.com/usmle-step-1-forum/27629-weakness-cataract-frontal-baldness-testicular-atrophy.html)

alfjof 05-14-2012 08:24 PM

Weakness, Cataract, Frontal baldness, and Testicular Atrophy?
 
A 19-year male suffers from weakness and gait disturbance goes to see a specialist, who he observes in the young man a tremendous cataract in both eyes, frontal baldness, and testicular atrophy. Biopsy of muscle shows atrohy in fibers, creatine phosphokinase slightly increased but considerated normal. Which of the following is most likely the diagnosis?


A) Frame-shift mutation leads to delete the dystrophin gene
B) The frataxin protein repeats in the 1st intron
C) Presence of myotonia-protein kinase in myolonin gene
D) The treatment is mithramycin to decrease the methylation of histones
E) Dysrophin gene is less severe than who with frame-shift mutation

:(:(:sorry::sorry::p:p

..sharma 05-15-2012 10:24 AM

A - Duchennes muscular dystrophy
B - Friedrich's ataxia
C - Myotonic Dystrophy (the answer )
D - ??? Fragile X or Huntington ??? :confused::confused:
E -Becker's muscular dystrophy..

Dr.NickRiviera 05-15-2012 10:26 AM

C..........?

alfjof 05-15-2012 10:29 AM

Quote:

Originally Posted by ..sharma (Post 118894)
A - Duchennes muscular dystrophy
B - Friedrich's ataxia
C - Myotonic Dystrophy (the answer )
D - ??? Fragile X or Huntington ??? :confused::confused:
E -Becker's muscular dystrophy..


It is not very hard :)):)):))

..sharma 05-15-2012 10:45 AM

LOL... its even harder now that i forgot such an easy thing...!!
Mithramycin isn't even reminding me of something read somewhere... :redcheeks; i think that particular synapse broke off in my mind...
what is it ??:redcheeks;

alfjof 05-15-2012 11:35 AM

Explanation
 
A) Frame-shift mutation leads to delete the dystrophin gene: Duchenne muscular dystrophy is X-linked trait due to 427-KDa protein, Dx abnormal increased CPK in biopsy
B) The frataxin protein repeats in the 1st intron: Friedreich ataxia is an anticipation mutated in gene FXN(Formelly Known X25) located in chromosome 9, affecting the FRATAXIN PROTEIN with expanded GAA triplet repeats in the first intron
C) Presence of myotonia-protein kinase in myolonin gene: Myotonic dystrophy: Autosomal dominant disease, repeat CTG in 3'UTR(Untranslated region) on chromosone 19(Correct answer)
D) The treatment is mithramycin to decrease the methylation of histones: Huntington disease: repeat of CAG 5'coding mutated in chromosome 4p degrated the huntingtin protein, do not confuse with Fragil X syndrome which the diagnosis is making by hypermethylation of cysteine
E) Dystrophin gene is less severe than who with frame-shift mutation: Becker's muscular dystrophy which permits residual function of the dystrophin molecule

alfjof 05-15-2012 11:44 AM

Quote:

Originally Posted by ..sharma (Post 118901)
LOL... its even harder now that i forgot such an easy thing...!!
Mithramycin isn't even reminding me of something read somewhere... :redcheeks; i think that particular synapse broke off in my mind...
what is it ??:redcheeks;

I put the explanation let me know if you need something more

Mithramycin: http://www.ncbi.nlm.nih.gov/pubmed/1554864

This question is in USMLERx

mycoplasma 05-15-2012 12:08 PM

Quote:

Originally Posted by alfjof (Post 118911)
A) Frame-shift mutation leads to delete the dystrophin gene: Duchenne muscular dystrophy is X-linked trait due to 427-KDa protein, Dx abnormal increased CPK in biopsy
B) The frataxin protein repeats in the 1st intron: Friedreich ataxia is an anticipation mutated in gene FXN(Formelly Known X25) located in chromosome 9, affecting the FRATAXIN PROTEIN with expanded GAA triplet repeats in the first intron
C) Presence of myotonia-protein kinase in myolonin gene: Myotonic dystrophy: Autosomal dominant disease, repeat CTG in 3'UTR(Untranslated region) on chromosone 19(Correct answer)
D) The treatment is mithramycin to decrease the methylation of histones: Huntington disease: repeat of CAG 5'coding mutated in chromosome 4p degrated the huntingtin protein, do not confuse with Fragil X syndrome which the diagnosis is making by hypermethylation of cysteine
E) Dystrophin gene is less severe than who with frame-shift mutation: Becker's muscular dystrophy which permits residual function of the dystrophin molecule


very easy question , but really have never heard about mithramycin before

alfjof 05-15-2012 12:22 PM

Quote:

Originally Posted by mycoplasma (Post 118918)
very easy question , but really have never heard about mithramycin before


The name is Medecine and USMLE board examen

Dr.NickRiviera 05-15-2012 12:23 PM

never heard of mithramycin before
it wont be on the exam.

alfjof 05-15-2012 12:28 PM

Quote:

Originally Posted by Dr.NickRiviera (Post 118926)
never heard of mithramycin before
it wont be on the exam.


Read the 1st page on pharmacology of FA and I'll wait for your answer

Dr.NickRiviera 05-15-2012 12:33 PM

Quote:

Originally Posted by alfjof (Post 118927)
Read the 1st page on pharmacology of FA and I'll wait for your answer

i dont see it anywhere.

alfjof 05-15-2012 12:45 PM

Quote:

Originally Posted by Dr.NickRiviera (Post 118928)
i dont see it anywhere.

In the 1st page pharmacology of FA you can read at end that: NEWER DRUGS ON THE MARKET ARE ALSO FAIR GAME


:)):)):)):))

DefeatTheBeast 05-15-2012 12:46 PM

Man, your questions are terrible.

I understand wanting to know every minute detail but this is way overboard...LOL @ going thru all this crap will probably make you miss more easy points then get hard points.

(and i don't mean just this question which was easy, i mean the several other ones you've posted)

alfjof 05-15-2012 12:55 PM

Quote:

Originally Posted by DefeatTheBeast (Post 118931)
Man, your questions are terrible.

I understand wanting to know every minute detail but this is way overboard...LOL @ going thru all this crap will probably make you miss more easy points then get hard points.

(and i don't mean just this question which was easy, i mean the several other ones you've posted)


Really :)):)):)), let me tell you all thing I put in the explanation is in the material for the board e.g Kaplan LN, Video & Qbank, UW, USMLErx, and Lincott, the thing is you have to read carfully all points in the explanations

..sharma 05-15-2012 09:41 PM

There are questions in UWORLD related to hypermethylation linked to Fragile X, Huntington and Imprinting syndromes...
Knowing mithramycin wont hurt...:indifferent:
@alfjof ..Your Qs are good, making me to think a lot... but i hope i dont see anything like them in the exam... :sorry:

irakly 05-15-2012 10:41 PM

frontal balding,cataracts,testicular atrophy -clinical findings in myotonic dystrophy-trinucleotide repeat(CTG)-selective atrophy of type 1 fibers

alfjof 05-16-2012 06:56 AM

Quote:

Originally Posted by ..sharma (Post 118989)
There are questions in UWORLD related to hypermethylation linked to Fragile X, Huntington and Imprinting syndromes...
Knowing mithramycin wont hurt...:indifferent:
@alfjof ..Your Qs are good, making me to think a lot... but i hope i dont see anything like them in the exam... :sorry:



Everyday I will post at least between 2 or 3 question until I will sit for test ok, some of them was on my real test:redcheeks;:cool::cool:


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