USMLE Step 1 - diagnosis
diagnosis
bingousmle - 11-16-08 07:16
1 and 1/2yr old boy from the past 2 mths he has had increasing difficulty walking and maintaining his balance. the parentssay he always seems to be sick. On physical exam, dilated blood vessels in the eyes are seen and there is no h/o seasonal allergies. The serum levels of which substances would most help establish the diagnosis?
A. AFP (alpha-fetoprotein)
B. IgA
C. Glucocerebrosidase + Sphingomyelinase
D. CEA (carcinoembryonic antigen)
E. ADA (Adenosine Deaminase)
bingousmle - 11-16-08 07:16
1 and 1/2yr old boy from the past 2 mths he has had increasing difficulty walking and maintaining his balance. the parentssay he always seems to be sick. On physical exam, dilated blood vessels in the eyes are seen and there is no h/o seasonal allergies. The serum levels of which substances would most help establish the diagnosis?
A. AFP (alpha-fetoprotein)
B. IgA
C. Glucocerebrosidase + Sphingomyelinase
D. CEA (carcinoembryonic antigen)
E. ADA (Adenosine Deaminase)
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#4
Re: diagnosis
bingousmle - 11-18-08 01:08 increasing difficulty in walking and maintaining bbalance=ATAXIA
dilated blood vessels in eyes=TELENGIECTASIA
so its ataxia telengiectassia
#5
Re: diagnosis usmlefever3 - 11-18-08 01:14 is alfa feto protein increased or decreased in ataxia telengiectasia.........srry just not able to recollect it from my memory
#6
Re: diagnosis bingousmle - 11-18-08 01:32 srry bout what?? we all sail in the same ship and thats where discussion helps.
AFPlevels are increased
#7
Re: diagnosis usmlefever3 - 11-18-08 01:40 i thought ataxia telengiectasia is associated with increase in alfa feto protein and CEA with a deficiency in IgA .so does alfa feto protein is used in diagnosis?
its associated with pulmonary infections and lymphoreticular malignancy
and gene is ATM
#8
Re: diagnosis bingousmle - 11-18-08 01:52 i am not sure if CEA is affected in ataxia telengiectasia.
and 50% may have decreased IgA levels
what i have read is ..
Diagnosis is usually achieved clinically
F/B lab tests for serum AFP level, and measurement of the level of ATM protein.
patients may also have a low lymphocyte count and other immunological abnormalities.
cytogenetic and molecular testing to confirm the diagnosis.
MRI and CT scans may show signs of cerebellar atrophy.
#9
Re: diagnosis usmlefever3 - 11-18-08 07:10 ok..tht means AFP is the single best answert for your question
#10
Re: diagnosis bingousmle - 11-18-08 07:51 yeah, raised AFP is the best amongst the choices provided.
#12
Re: diagnosis bingousmle - 11-19-08 08:51 what happens to AFP levels in a syndromme associated with Brushfield spots
#13
Re: diagnosis kingofhearts - 11-19-08 09:03 is it increased....well it is a blind guess from me ...
#14
Re: diagnosis bingousmle - 11-19-08 09:15 no they are decreased.. wwhat are the other features of this syndrome .
and in what conditions are AFP levels increased
#15
Re: diagnosis kingofhearts - 11-19-08 09:23 which syndrome?? please name ......
well afp is raised in hepatoma,non seminomatous germ cell tumours of the testis,hepatitis,cirrhosis,toxic liver injury and pregnancy.....in which conditions is CEA RAISED...
#16
Re: diagnosis bingousmle - 11-19-08 09:32 its downs.the other features are simian crease , hypertelorism flat facial profile, brushfield spots ,
the most common cause is maternal meiotic non disjunction.
AFP levels are also raised in omphalocele and neural tube defects
CEA is a tumor marker in colorectal carcinoma mainly
#17
Re: diagnosis kingofhearts - 11-19-08 09:36 CEA also raised in CA of breast and pancreas....what are the non neoplastic conditions in which it is raised...and when is CA-15-3 raised...
#18
Re: diagnosis bingousmle - 11-19-08 10:27 smokers , cirrhosis,pancreatits are the non neoplastic causes of raised CEA.
CA153 -breast carcinoma
CA125 -OVARIAN CARCINOMA
CA199-colorectal ca
#19
Re: diagnosis kingofhearts - 11-19-08 10:32 CEA in ulcerative colitis and crohns disease also........
#22
Re: diagnosis bingousmle - 11-19-08 12:13 ya thinking of some...
what are the things associated with trousseau?
#23
Re: diagnosis kingofhearts - 11-19-08 14:38 well it is seen i tetany due to hypocalcaemia.....inflation of the cuff on the upper arm to more than the systolic pressure is followed by carpal spasm within 3 mins.....
#25
Re: diagnosis kingofhearts - 11-20-08 00:46 well its thrombophlebitis migrans wherin multiple venous thrombi that disappear from one site so as to appear on another site...its is a clinical one....
#27
Re: diagnosis bingousmle - 11-20-08 04:06 precisely troussseaus syndrome is considered to be a paraneoplastic syn due to some substances released by tumor mainly pancreatic and lung malignancies which makes the blood hypercoaguable and results in thrombophllebitis migrans.
an interesting fact is that armand trousseau observed this sign in himself when he suffered from a fatal pancreatic cancer!
#28
Re: diagnosis kingofhearts - 11-20-08 08:12 ok thats an interesting piece of trivia... so it is pancreatic cancer .....what is known as mice in the peritoneum .... why is it called so...
#29
Re: diagnosis bingousmle - 11-20-08 08:58 a free body in the peritoneum. could be a calcified omental mass, a detatched mass of omentum ,benign ovarian cyst which keeps on changing position.its mostly detected radiologically.
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