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  #1  
Old 11-08-2011
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Question Early age atherosclerosis and graying of hair!

A 37-year-old industrial worker presents to her primary care physician for a follow-up visit. She was recently referred to an ophthalmologist who diagnosed her with bilateral cataracts. At present, the patient’s main complaint is that of chest pain that radiates to the neck and left arm. The pain is exacerbated when she climbs a flight of stairs or when she walks fast, and is relieved by resting for 10 to15 minutes. On exam, the patient has a stooped posture and appears much older than her stated age. She is 1.39 m tall and weighs 40 kg. Her hair is grey with signifcant thinning and evidence of balding. Vital signs and cardiovascular exam are within normal limits. Skin exam reveals several calcific-appearing nodules and ulcerations on the lower extremities. A CBC and basic metabolic panel are within normal limits with the exception of a glucose level of 236 mg/dL. Which of the following represents the most likely diagnosis?
A. Scleroderma
B. Li-Fraumeni syndrome
C. Werner syndrome
D. Bloom syndrome
E. von Hippel-Lindau syndrome
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  #2  
Old 11-09-2011
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I m with werner syndrome because even though bloom has also similarities with it..has not an atherosclerosis complication...(chest pain described in the case)
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  #3  
Old 11-13-2011
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what is the answer please?
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  #4  
Old 11-13-2011
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The answer should be C) Werner syndrome

Werner syndrome (WS): is a premature aging disorder that may serve as a model of normal human aging. In vivo aging is linked with accelerated aging of fibroblasts in culture, possibly due to the genomic instability, a hallmark of WS. Genome instability activates stress kinases, implying that kinase inhibitors may form the basis of antiaging therapies for individuals with WS.
The hallmark of this syndrome is a striking disproportion between the patient's real age and the patient's appearance.
Early age atherosclerosis and graying of hair!-werner.jpg


Bloom syndrome (congenital telangiectatic erythema):
- Growth delay is the most impressive clinical feature of Bloom syndrome and is usually the first manifestation that causes the parents to seek medical attention. The growth deficiency has a prenatal onset, apparent from term birth measurements, and persists throughout life.
More than half the children are significantly underdeveloped in physical stature until age 8 years.
- Neoplasia: have an overall 150- to 300-times increased risk of malignancy compared with the general population. Twenty percent of patients with Bloom syndrome develop malignancies (eg, acute leukemia, lymphoma, gastrointestinal adenocarcinoma).
- Immunology: Patients with Bloom syndrome have decreased immunoglobulin A and immunoglobulin M, with recurrent respiratory and gastrointestinal tract infections.
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Old 11-14-2011
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Thanks for the input - What board or clinically related resources or subject have you gone through that may have covered some of those signs and symptoms on Werner's?
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Old 11-14-2011
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Nelson Textbook of Pediatrics, 19th ed. (2011)

Early age atherosclerosis and graying of hair!-progenia.jpg
Click image to enlarge
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  #7  
Old 11-14-2011
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Ah okay - thanks for the table! I couldn't find it in a few of the book indexes. Unfortunately, Nelson's wasn't a board friendly book for this exam Was it covered in qbank or usmleworld? I would have missed that question easily.
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Old 11-14-2011
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board friendly book? Im not familiar with those...
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Old 11-14-2011
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Sorry, I mean that I would never have looked through Nelson's Pediatric Text to find this bit of information.

Board friendly - I meant, books that students use to help prepare and study for the USMLE. i.e. Kaplan Notes

Speaking of Kaplan - couldn't find anything on Werner's Syndrome Kaplan Pediatric Notes / Master Boards CK or Step 3 index.
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Old 11-15-2011
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I don't get what's the cause for the calcific nodules and ulcerations in the lower extremities??
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  #11  
Old 11-15-2011
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Quote:
Originally Posted by Fatima View Post
I don't get what's the cause for the calcific nodules and ulcerations in the lower extremities??
Itīs part of the syndrome. (post #6)
- Skin calcification
- Subcutaneous fat loss + vasculopathy
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  #12  
Old 11-15-2011
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everytime i come across a disease or a syndrome i hear of the first time worries me...... how do i cover it all?
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Old 11-15-2011
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Opps i guess i forgot about this post.. thx bebix for answering it ..
Here the answer from the source anyways :
The correct answer is C. Werner syndrome.
his patient most likely has Werner syndrome (WS). WS is an autosomal recessive disorder that is the most common of premature aging diseases, or progerias. WS is caused by a mutation in the WS gene, resulting in a RecQ DNA helicase defect. Patients are usually diagnosed in the fourth decade of life and most die by 50 years of age. WS manifests after the second decade of life. Patients are typically of short stature; demonstrate thin, wrinkled skin; muscle atrophy; loss of subcutaneous tissue; graying of hair; as well as other changes that impart an appearance that is disproportionate to their age. Sclerodermalike skin changes are characteristic. Complications associated with WS include early cataract formation, osteoporosis, diabetes (late-onset), increased risk of malignancies, and arteriosclerosis. The patient in the vignette demonstrates classic symptoms of angina secondary to arteriosclerosis. In fact, atherosclerosis is a major source of mortality in patients with WS. Other symptoms associated with WS include hypogonadism and calcification of subcutaneous tissues. There is currently no treatment for this disease. With regards to Question 1, none of the answer choices provided are associated premature aging. In fact, patients with scleroderma are reported to appear more youthful. Li-Fraumeni syndrome (LFS) is caused by a p53 tumor suppressor gene mutation and is associated with a wide array of tumors. Bloom syndrome is associated with growth retardation, bird-like facies, variable immunodeficiency, and greatly increased risk for leukemias or lymphomas. von Hippel-Lindau (VHL) syndrome is an autosomal dominant condition characterized by CNS and retinal hemangioblastomas, pheochromocytomas, and renal cell carcinomas.With regards to Question 3, though cocaine abuse may result in angina, it is not particularly associated with premature aging. Though cutaneous involvement may occur, amyloidosis is similarly not typically associated with premature aging. Although psychosocial stressors may contribute to accelerated aging, the extent of premature aging, anginal symptoms, and cataract formation seen here cannot be explained adequately on this basis of stress alone. The changes demonstrated by this patient do not lie within the realm of normal aging.

Seetal actually you cant cover it all , no matter how hard you study there will still be things that you will miss..but i guess at least we can try to cover 80-90% of the subjects that we might see at the exam..
So basically what i'm trying to do on this forum is that whenever i see a weird question with stuff that we most likely never heard of it, i post it so people who don't know it like me, can at least learn it from here.
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  #14  
Old 11-16-2011
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Quote:
Originally Posted by Seetal View Post
everytime i come across a disease or a syndrome i hear of the first time worries me...... how do i cover it all?
dear seetal few syndromes are imp i guess. as soon as i looked at answer choices before going thru the question properly i knew they were asking werner! do the questions and u will remember.
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Old 11-16-2011
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and i had my exam. fortunately there was no fracture question. but there were 2 MRI and bursa questions which i didn't understand.unfortunately.do all the gynae and do all the pediatric skin diseases.psychiatry drug tables and their side effects.be ready to read long stems. atleast of pulmonology and cardio(they were my strongest areas and i think i v done most mistakes in them) do the PFTs.valvular disease audio are nt v difficult they give you enuff hints in questions.and be ready to answer lot of pathophysiology questions as well.overall if ur done with exam they ask nuthing out of the books. but the exam is too long ! and u tend to make mistakes (compulsive in my case) . i didnt get time to review marked questions. had to leave 4-5 questions unanswered .which was my fault because i cd nt b v fast may b u r exausted!best of luck guys i m sure u ll do better.
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Old 11-16-2011
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and i wanted to ask u one thing. there were questions like in uworld where after RTA a pt is hypotensive. i gave him fluids like in u world but in kaplan lectures they said sumtimes u have to stop the bleeding first( wat are those cases ).i gave him fluids anyway.
secondly if pt is stable we do CT right. in wat conditions we do FAST???
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Old 11-16-2011
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Quote:
Originally Posted by A_a_ View Post
and i wanted to ask u one thing. there were questions like in uworld where after RTA a pt is hypotensive. i gave him fluids like in u world but in kaplan lectures they said sumtimes u have to stop the bleeding first( wat are those cases ).i gave him fluids anyway.
secondly if pt is stable we do CT right. in wat conditions we do FAST???
after RTA???
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  #18  
Old 11-17-2011
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road traffic accident
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