WBR0116: Difference between revisions
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|SubCategory=Gastrointestinal | |SubCategory=Gastrointestinal | ||
|Prompt=A 33-year-old Caucasian female presents with diarrhea and foul-smelling bulky stools for the past 3 weeks. She has tried several over the counter medications with no relief. Yesterday, she noticed an eruption of intensely pruritic papules and vesicles on her elbows, dorsal forearms and back. She recalls that her older brother has suffered from a similar illness for approximately 5 years. Her vital signs and initial labs are unremarkable. Serologic testing revealed elevated levels of IgA tissue transglutaminase antibodies. Which of the following gene mutations most likely predisposed this patient's condition? | |Prompt=A 33-year-old Caucasian female presents with diarrhea and foul-smelling bulky stools for the past 3 weeks. She has tried several over the counter medications with no relief. Yesterday, she noticed an eruption of intensely pruritic papules and vesicles on her elbows, dorsal forearms and back. She recalls that her older brother has suffered from a similar illness for approximately 5 years. Her vital signs and initial labs are unremarkable. Serologic testing revealed elevated levels of IgA tissue transglutaminase antibodies. Which of the following gene mutations most likely predisposed this patient's condition? | ||
|Explanation=This patient suffers from celiac disease or gluten-sensitive enteropathy, which is genetically predisposed by HLA DQ2 or HLA DQ8 | |Explanation=This patient suffers from celiac disease or gluten-sensitive enteropathy, which is genetically predisposed by HLA-DQ2 or HLA-DQ8 HLA subtypes. | ||
|AnswerA=HLA DQ2 gene | |AnswerA=HLA DQ2 gene | ||
|AnswerAExp= | |AnswerAExp=This patient suffers from celiac disease or gluten-sensitive enteropathy, which is genetically predisposed by HLA DQ2 or HLA DQ8 gene mutations | ||
This patient suffers from celiac disease or gluten-sensitive enteropathy, which is genetically predisposed by HLA DQ2 or HLA DQ8 gene mutations | |||
|AnswerB=IBD1 gene | |AnswerB=IBD1 gene | ||
|AnswerBExp= | |AnswerBExp=IBD1 encodes an intracellular pattern recognition receptor (NOD2). IBD1 mutations are associated with inflammatory bowel diseases. | ||
IBD1 | |||
|AnswerC=HLA-DR2 | |AnswerC=HLA-DR2 | ||
|AnswerCExp= | |AnswerCExp=HLA-DR2 is associated with inflammatory bowel diseases. | ||
HLA-DR2 is associated with inflammatory bowel diseases. | |||
|AnswerD=APC gene | |AnswerD=APC gene | ||
|AnswerDExp= | |AnswerDExp=APC gene mutation predisposes to [[Familial adenomatous polyposis]]. | ||
APC gene mutation predisposes to Familial adenomatous polyposis | |AnswerE=MSH2 gene | ||
|AnswerE= | |AnswerEExp=MSH2 gene mutation is associated with [[hereditary non-polyposis colorectal cancer]]. | ||
|AnswerEExp= | |||
|RightAnswer=A | |RightAnswer=A | ||
|Approved=Yes | |Approved=Yes | ||
}} | }} | ||
Revision as of 13:19, 3 April 2014
| Author | PageAuthor::Mahmoud Sakr (Reviewed by Will Gibson) |
|---|---|
| Exam Type | ExamType::USMLE Step 1 |
| Main Category | MainCategory::Genetics |
| Sub Category | SubCategory::Gastrointestinal |
| Prompt | [[Prompt::A 33-year-old Caucasian female presents with diarrhea and foul-smelling bulky stools for the past 3 weeks. She has tried several over the counter medications with no relief. Yesterday, she noticed an eruption of intensely pruritic papules and vesicles on her elbows, dorsal forearms and back. She recalls that her older brother has suffered from a similar illness for approximately 5 years. Her vital signs and initial labs are unremarkable. Serologic testing revealed elevated levels of IgA tissue transglutaminase antibodies. Which of the following gene mutations most likely predisposed this patient's condition?]] |
| Answer A | AnswerA::HLA DQ2 gene |
| Answer A Explanation | AnswerAExp::This patient suffers from celiac disease or gluten-sensitive enteropathy, which is genetically predisposed by HLA DQ2 or HLA DQ8 gene mutations |
| Answer B | AnswerB::IBD1 gene |
| Answer B Explanation | AnswerBExp::IBD1 encodes an intracellular pattern recognition receptor (NOD2). IBD1 mutations are associated with inflammatory bowel diseases. |
| Answer C | AnswerC::HLA-DR2 |
| Answer C Explanation | AnswerCExp::HLA-DR2 is associated with inflammatory bowel diseases. |
| Answer D | AnswerD::APC gene |
| Answer D Explanation | [[AnswerDExp::APC gene mutation predisposes to Familial adenomatous polyposis.]] |
| Answer E | AnswerE::MSH2 gene |
| Answer E Explanation | [[AnswerEExp::MSH2 gene mutation is associated with hereditary non-polyposis colorectal cancer.]] |
| Right Answer | RightAnswer::A |
| Explanation | [[Explanation::This patient suffers from celiac disease or gluten-sensitive enteropathy, which is genetically predisposed by HLA-DQ2 or HLA-DQ8 HLA subtypes. Educational Objective: |
| Approved | Approved::Yes |
| Keyword | |
| Linked Question | Linked:: |
| Order in Linked Questions | LinkedOrder:: |