WBR0116: Difference between revisions
Jump to navigation
Jump to search
Gerald Chi (talk | contribs) |
No edit summary |
||
| Line 1: | Line 1: | ||
{{WBRQuestion | {{WBRQuestion | ||
|QuestionAuthor=Mahmoud Sakr | |QuestionAuthor=Mahmoud Sakr (Reviewed by Will Gibson) | ||
|ExamType=USMLE Step 1 | |ExamType=USMLE Step 1 | ||
|MainCategory=Genetics | |MainCategory=Genetics | ||
| Line 20: | Line 20: | ||
|MainCategory=Genetics | |MainCategory=Genetics | ||
|SubCategory=Gastrointestinal | |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? | ||
|Explanation=This patient suffers from celiac disease or gluten-sensitive enteropathy, which is genetically predisposed by HLA DQ2 or HLA DQ8 gene mutations. HNPCC gene mutation is associated with hereditary non-polyposis colorectal cancer. APC gene mutation predisposes to Familial adenomatous polyposis. IBD1 and HLA-DR2 are associated with inflammatory bowel diseases. | |Explanation=This patient suffers from celiac disease or gluten-sensitive enteropathy, which is genetically predisposed by HLA DQ2 or HLA DQ8 gene mutations. HNPCC gene mutation is associated with hereditary non-polyposis colorectal cancer. APC gene mutation predisposes to Familial adenomatous polyposis. IBD1 and HLA-DR2 are associated with inflammatory bowel diseases. | ||
|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 is associated with inflammatory bowel diseases. | IBD1 is associated with inflammatory bowel diseases. | ||
|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=HNPCC gene | |AnswerE=HNPCC gene | ||
|AnswerEExp= | |AnswerEExp= | ||
HNPCC gene mutation is associated with hereditary non-polyposis colorectal cancer. | HNPCC gene mutation is associated with hereditary non-polyposis colorectal cancer. | ||
|RightAnswer=A | |RightAnswer=A | ||
|Approved=Yes | |Approved=Yes | ||
}} | }} | ||
Revision as of 12:41, 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 is 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::HNPCC gene |
| Answer E Explanation | AnswerEExp::HNPCC 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 gene mutations. HNPCC gene mutation is associated with hereditary non-polyposis colorectal cancer. APC gene mutation predisposes to Familial adenomatous polyposis. IBD1 and HLA-DR2 are associated with inflammatory bowel diseases. Educational Objective: |
| Approved | Approved::Yes |
| Keyword | |
| Linked Question | Linked:: |
| Order in Linked Questions | LinkedOrder:: |