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  #1  
Old 11-18-2012
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Arrow Billy Step 1 Questions # 88

A 23-year-old man comes to the clinic complaining of a severe headache that started 2 hours ago. He describes the headache as being “the worst in his life.” His blood pressure is 138/95 mm Hg, and his heart rate is 56/min. On examination, the physician notes hyperextensible joints and increased skin elasticity, with hyperpigmentation over bony prominences. The examination is otherwise unremarkable. The patient states that he has not had any medical problems in the past. A CT scan of the head reveals blood in the sulci indicative of a subarachnoid hemorrhage. What is the most likely defect associated with this patient’s
disease?


(A) Antibodies to U1RNP
(B) Deficient hydroxylation of propyl and lysyl residues
(C) Keratin gene mutation
(D) Type III collagen gene mutation
(E) Type IV collagen gene mutation
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  #2  
Old 11-18-2012
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Default my answer :)

(D) Type III collagen gene mutation
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Default B

Hope so.
Keep the questions coming billy! My poor performance will hopefully encourage me to study harder lol
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Old 11-18-2012
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The condition is Ehler Danlos and it is defect in type 3 collage.

a. Antibodies to U1RNP (ribonucleoproteins) occur in Mixed connective tissue disorder
b. Deficient hydroxylation of prolyl and lysyl residues occur in Vit C difeciency (Scurvy)
c. I don't know what keratin gene mutation would cause. Anyone care to help?
e. Type IV collagen gene mutation is seen in conditions like Alport's syndrome.

Note : Type I collagen gene mutation results in osteogenesis imperfecta.
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  #5  
Old 11-18-2012
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Quote:
Originally Posted by Casandra View Post
(D) Type III collagen gene mutation
Is it Elhers-Danlos syndrome? Then shouldn't it be Type I collagen.?

Now I am confused.

I will go with BBBBBB.
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Old 11-18-2012
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The answer is Type III Collagen gene mutation.
This is case of Ehlers-Danlos syndrome, in which a patient has mutation in Type III Colllagen.
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Old 11-19-2012
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Correct Answer D is correct

Ehlers-Danlos syndrome (EDS) is a heterogeneous group of inherited connective tissue disorders characterized by joint hypermobility, cutaneous fragility, and hyperextensibility. There are 11 different types of EDS identified. This presentation is most consistent with type IV EDS, which also is characterized by vascular problems including arterial or uterine rupture. Although confusing, Type IV EDS is characterized by a decreased amount of type III collagen, which is a structural protein in blood vessels. It is a rare, but severe form and patients often have a shortened lifespan because of the spontaneous rupture of a large artery.
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