Weakness, Cataract, Frontal baldness, and Testicular Atrophy? - USMLE Forums
USMLE Forums Logo
USMLE Forums         Your Reliable USMLE Online Community     Members     Posts
Home
USMLE Articles
USMLE News
USMLE Polls
USMLE Books
USMLE Apps
Go Back   USMLE Forums > USMLE Step 1 Forum

USMLE Step 1 Forum USMLE Step 1 Discussion Forum: Let's talk about anything related to USMLE Step 1 exam


Reply
 
Thread Tools Search this Thread Display Modes
  #1  
Old 05-14-2012
alfjof's Avatar
USMLE Forums Veteran
 
Steps History: Step 1 Only
Posts: 251
Threads: 56
Thanked 104 Times in 62 Posts
Reputation: 114
Send a message via Yahoo to alfjof
Question 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:
__________________
Happy to Learn New Concept and Mechanism each Day
Reply With Quote Quick reply to this message



  #2  
Old 05-15-2012
..sharma's Avatar
USMLE Forums Addict
 
Steps History: Step 1 Only
Posts: 129
Threads: 9
Thanked 52 Times in 36 Posts
Reputation: 62
Send a message via Skype™ to ..sharma
Post

A - Duchennes muscular dystrophy
B - Friedrich's ataxia
C - Myotonic Dystrophy (the answer )
D - ??? Fragile X or Huntington ???
E -Becker's muscular dystrophy..
Reply With Quote Quick reply to this message
  #3  
Old 05-15-2012
USMLE Forums Master
 
Steps History: 1+CK+CS
Posts: 1,406
Threads: 118
Thanked 642 Times in 407 Posts
Reputation: 652
Default

C..........?
__________________
"inflammable means flammable!? What a country."
Reply With Quote Quick reply to this message
  #4  
Old 05-15-2012
alfjof's Avatar
USMLE Forums Veteran
 
Steps History: Step 1 Only
Posts: 251
Threads: 56
Thanked 104 Times in 62 Posts
Reputation: 114
Send a message via Yahoo to alfjof
Default

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

It is not very hard
__________________
Happy to Learn New Concept and Mechanism each Day
Reply With Quote Quick reply to this message
  #5  
Old 05-15-2012
..sharma's Avatar
USMLE Forums Addict
 
Steps History: Step 1 Only
Posts: 129
Threads: 9
Thanked 52 Times in 36 Posts
Reputation: 62
Send a message via Skype™ to ..sharma
Unhappy

LOL... its even harder now that i forgot such an easy thing...!!
Mithramycin isn't even reminding me of something read somewhere... i think that particular synapse broke off in my mind...
what is it ??
Reply With Quote Quick reply to this message
  #6  
Old 05-15-2012
alfjof's Avatar
USMLE Forums Veteran
 
Steps History: Step 1 Only
Posts: 251
Threads: 56
Thanked 104 Times in 62 Posts
Reputation: 114
Send a message via Yahoo to alfjof
Default 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
__________________
Happy to Learn New Concept and Mechanism each Day

Last edited by alfjof; 05-15-2012 at 12:46 PM.
Reply With Quote Quick reply to this message
The above post was thanked by:
..sharma (05-15-2012), mycoplasma (05-15-2012)
  #7  
Old 05-15-2012
alfjof's Avatar
USMLE Forums Veteran
 
Steps History: Step 1 Only
Posts: 251
Threads: 56
Thanked 104 Times in 62 Posts
Reputation: 114
Send a message via Yahoo to alfjof
Default

Quote:
Originally Posted by ..sharma View Post
LOL... its even harder now that i forgot such an easy thing...!!
Mithramycin isn't even reminding me of something read somewhere... i think that particular synapse broke off in my mind...
what is it ??
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
__________________
Happy to Learn New Concept and Mechanism each Day
Reply With Quote Quick reply to this message
The above post was thanked by:
..sharma (05-15-2012), DocSikorski (05-16-2012)
  #8  
Old 05-15-2012
USMLE Forums Veteran
 
Steps History: Not yet
Posts: 205
Threads: 58
Thanked 19 Times in 16 Posts
Reputation: 29
Default

Quote:
Originally Posted by alfjof View Post
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
Reply With Quote Quick reply to this message
  #9  
Old 05-15-2012
alfjof's Avatar
USMLE Forums Veteran
 
Steps History: Step 1 Only
Posts: 251
Threads: 56
Thanked 104 Times in 62 Posts
Reputation: 114
Send a message via Yahoo to alfjof
Default

Quote:
Originally Posted by mycoplasma View Post
very easy question , but really have never heard about mithramycin before

The name is Medecine and USMLE board examen
__________________
Happy to Learn New Concept and Mechanism each Day
Reply With Quote Quick reply to this message
The above post was thanked by:
mycoplasma (05-15-2012)
  #10  
Old 05-15-2012
USMLE Forums Master
 
Steps History: 1+CK+CS
Posts: 1,406
Threads: 118
Thanked 642 Times in 407 Posts
Reputation: 652
Default

never heard of mithramycin before
it wont be on the exam.
__________________
"inflammable means flammable!? What a country."
Reply With Quote Quick reply to this message
  #11  
Old 05-15-2012
alfjof's Avatar
USMLE Forums Veteran
 
Steps History: Step 1 Only
Posts: 251
Threads: 56
Thanked 104 Times in 62 Posts
Reputation: 114
Send a message via Yahoo to alfjof
Default

Quote:
Originally Posted by Dr.NickRiviera View Post
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
__________________
Happy to Learn New Concept and Mechanism each Day
Reply With Quote Quick reply to this message
  #12  
Old 05-15-2012
USMLE Forums Master
 
Steps History: 1+CK+CS
Posts: 1,406
Threads: 118
Thanked 642 Times in 407 Posts
Reputation: 652
Default

Quote:
Originally Posted by alfjof View Post
Read the 1st page on pharmacology of FA and I'll wait for your answer
i dont see it anywhere.
__________________
"inflammable means flammable!? What a country."
Reply With Quote Quick reply to this message
  #13  
Old 05-15-2012
alfjof's Avatar
USMLE Forums Veteran
 
Steps History: Step 1 Only
Posts: 251
Threads: 56
Thanked 104 Times in 62 Posts
Reputation: 114
Send a message via Yahoo to alfjof
Default

Quote:
Originally Posted by Dr.NickRiviera View Post
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


__________________
Happy to Learn New Concept and Mechanism each Day
Reply With Quote Quick reply to this message
  #14  
Old 05-15-2012
USMLE Forums Guru
 
Steps History: Step 1 Only
Posts: 452
Threads: 11
Thanked 354 Times in 197 Posts
Reputation: 364
Default

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)
Reply With Quote Quick reply to this message
  #15  
Old 05-15-2012
alfjof's Avatar
USMLE Forums Veteran
 
Steps History: Step 1 Only
Posts: 251
Threads: 56
Thanked 104 Times in 62 Posts
Reputation: 114
Send a message via Yahoo to alfjof
Default

Quote:
Originally Posted by DefeatTheBeast View Post
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
__________________
Happy to Learn New Concept and Mechanism each Day
Reply With Quote Quick reply to this message



  #16  
Old 05-15-2012
..sharma's Avatar
USMLE Forums Addict
 
Steps History: Step 1 Only
Posts: 129
Threads: 9
Thanked 52 Times in 36 Posts
Reputation: 62
Send a message via Skype™ to ..sharma
Post

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

Last edited by ..sharma; 05-15-2012 at 10:42 PM. Reason: a typo
Reply With Quote Quick reply to this message
  #17  
Old 05-15-2012
USMLE Forums Addict
 
Steps History: Not yet
Posts: 125
Threads: 17
Thanked 66 Times in 38 Posts
Reputation: 76
Default

frontal balding,cataracts,testicular atrophy -clinical findings in myotonic dystrophy-trinucleotide repeat(CTG)-selective atrophy of type 1 fibers
Reply With Quote Quick reply to this message
  #18  
Old 05-16-2012
alfjof's Avatar
USMLE Forums Veteran
 
Steps History: Step 1 Only
Posts: 251
Threads: 56
Thanked 104 Times in 62 Posts
Reputation: 114
Send a message via Yahoo to alfjof
Default

Quote:
Originally Posted by ..sharma View Post
There are questions in UWORLD related to hypermethylation linked to Fragile X, Huntington and Imprinting syndromes...
Knowing mithramycin wont hurt...
@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
__________________
Happy to Learn New Concept and Mechanism each Day
Reply With Quote Quick reply to this message
The above post was thanked by:
Dr. Mexito (05-16-2012)



Reply

Tags
Musculoskeletal-, Pathology-, Step-1-Questions

Quick Reply
Message:
Options

Register Now

In order to be able to post messages on the USMLE Forums forums, you must first register.
Please enter your desired user name, your email address and other required details in the form below.
User Name:
Password
Please enter a password for your user account. Note that passwords are case-sensitive.
Password:
Confirm Password:
Email Address
Please enter a valid email address for yourself.
Email Address:
Medical School
Choose "---" if you don't want to tell. AMG for US & Canadian medical schools. IMG for all other medical schools.
USMLE Steps History
What steps finished! Example: 1+CK+CS+3 = Passed Step 1, Step 2 CK, Step 2 CS, and Step 3.

Choose "---" if you don't want to tell.

Favorite USMLE Books
What USMLE books you really think are useful. Leave blank if you don't want to tell.
Location
Where you live. Leave blank if you don't want to tell.

Log-in

Human Verification

In order to verify that you are a human and not a spam bot, please enter the answer into the following box below based on the instructions contained in the graphic.



Thread Tools Search this Thread
Search this Thread:

Advanced Search
Display Modes


Similar Threads
Thread Thread Starter Forum Replies Last Post
Atrophy in conn syndrom kenlee USMLE Step 1 Forum 2 03-23-2012 11:21 PM
DM, Testicular atrophy, Progressive muscle wasting, Myotonia Parag USMLE Step 2 CK Classic Clues 3 03-20-2012 11:26 AM
Inferior Frontal Gyrus Stroke! ricko335 USMLE Step 1 Forum 8 09-04-2011 11:58 AM
Left Frontal Parasagittal Cerebral Hemorrhage! laurier USMLE Step 1 Forum 3 05-23-2011 04:32 PM
Jaundice Cataract after birth Sarah-cali USMLE Step 1 Classic Clues 1 07-27-2009 09:52 PM

RSS Feed
Find Us on Facebook
vBulletin Security provided by vBSecurity v2.2.2 (Pro) - vBulletin Mods & Addons Copyright © 2017 DragonByte Technologies Ltd.

USMLE® & other trade marks belong to their respective owners, read full disclaimer
USMLE Forums created under Creative Commons 3.0 License. (2009-2014)