UWorld cheat sheet 41-49 (Thursday) Flashcards
Genes: MSH2 MLH1 MSH6 PMS2 [Qid: 345]
Lynch syndrome
Colorectal cancer
Endometrial cancer
Ovarian cancer
[Qid: 345]
Lynch syndrome
Pathogenesis (6): - AD - Inactivating mutation in TSG - Deletion of remaining NL allele (second hit) [Qid: 345]
Lynch syndrome FAP VHLS Li-Fraumeni syndrome MEN1
APC gene
[Qid: 345]
FAP
Colorectal cancer
Desmonds & Osteoma
Brain tumors
[Qid: 345]
FAP
VHL gene
[Qid: 345]
Von Hippel-Lindau syndrome
Hemangioblastomas
Clear cell renal carcinoma
Pheochromocytoma
[Qid: 345]
Von Hippel-Lindau syndrome
TP53 gene
[Qid: 345]
Li-Fraumeni syndrome
Parathyroid adenomas
Pituitary adenomas
Pancreatic adenomas
[Qid: 345]
Medullary endocrine neoplasia type 1
Sarcomas Breast cancer Brain tumors Adrenocortical carcinoma Leukemia [Qid: 345]
Li-Fraumeni syndrome
MEN1 gene
[Qid: 345]
Medullary endocrine neoplasia type 1
RET gene
[Qid: 345]
Medullary endocrine neoplasia type 2
Medullary thyroid cancer
Pheochromocytoma
Parathyroid hyperplasia (MEN2A)
[Qid: 345]
Medullary endocrine neoplasia type 2
Pathogenesis:
- AD
- Activating (GOF) mutation in proto-oncogene
-Continuous stimulation of division predisposes to Timor growth
[Qid: 345]
Medullary endocrine neoplasia type 2
- Paroxysmal breathlessness and wheezing in a young pt that is unrelated to aspirin, inf, stress or exercise?
- Sputum findings?
[Qid: 527]
- Asthma
- Eosinophils (TH2 –> IL-5 –> eos) and Charcot-Leyden crystals
- MCC of SCID?
- 2nd MCC of SCID?
[Qid: 561]
- X-linked
- Adenosine deaminase def
Kawasaki Dz symptoms?
[Qid: 1852]
CRASH & burn: - *C*conjunctivitis - *R*rash - *A*denopathy (Cervical) - *S*trawberry tongue - *H*ands/feet (Rash and peeling) & burn (5 days of fever)
Complication of Kawasaki dz?
[Qid: 1852]
Coronary a aneurysm
2nd MCC brain neoplasm in children? Affects which str? [Qid: 1259]
Medulloblastoma
Sheets of small cells w/ deeply basophilic nuclei and scant cytoplasm (small, round blue cells) and many mitotic figures on brain biopsy. [Qid: 1259]
Medulloblastoma
African A w/ hilar adenopathy, pulm disease. Histo: non-caseating granulomas [Qid: 1147]
Sarcoidosis