UWorld cheat sheet 41-49 (Thursday) Flashcards

1
Q
Genes:
MSH2
MLH1
MSH6
PMS2
[Qid: 345]
A

Lynch syndrome

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2
Q

Colorectal cancer
Endometrial cancer
Ovarian cancer
[Qid: 345]

A

Lynch syndrome

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3
Q
Pathogenesis (6):
- AD
- Inactivating mutation in TSG
- Deletion of remaining NL allele (second hit)
[Qid: 345]
A
Lynch syndrome
FAP
VHLS
Li-Fraumeni syndrome
MEN1
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4
Q

APC gene

[Qid: 345]

A

FAP

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5
Q

Colorectal cancer
Desmonds & Osteoma
Brain tumors
[Qid: 345]

A

FAP

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6
Q

VHL gene

[Qid: 345]

A

Von Hippel-Lindau syndrome

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7
Q

Hemangioblastomas
Clear cell renal carcinoma
Pheochromocytoma
[Qid: 345]

A

Von Hippel-Lindau syndrome

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8
Q

TP53 gene

[Qid: 345]

A

Li-Fraumeni syndrome

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9
Q

Parathyroid adenomas
Pituitary adenomas
Pancreatic adenomas
[Qid: 345]

A

Medullary endocrine neoplasia type 1

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10
Q
Sarcomas
Breast cancer
Brain tumors
Adrenocortical carcinoma
Leukemia
[Qid: 345]
A

Li-Fraumeni syndrome

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11
Q

MEN1 gene

[Qid: 345]

A

Medullary endocrine neoplasia type 1

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12
Q

RET gene

[Qid: 345]

A

Medullary endocrine neoplasia type 2

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13
Q

Medullary thyroid cancer
Pheochromocytoma
Parathyroid hyperplasia (MEN2A)
[Qid: 345]

A

Medullary endocrine neoplasia type 2

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14
Q

Pathogenesis:
- AD
- Activating (GOF) mutation in proto-oncogene
-Continuous stimulation of division predisposes to Timor growth
[Qid: 345]

A

Medullary endocrine neoplasia type 2

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15
Q
  • Paroxysmal breathlessness and wheezing in a young pt that is unrelated to aspirin, inf, stress or exercise?
  • Sputum findings?
    [Qid: 527]
A
  • Asthma

- Eosinophils (TH2 –> IL-5 –> eos) and Charcot-Leyden crystals

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16
Q
  • MCC of SCID?
  • 2nd MCC of SCID?
    [Qid: 561]
A
  • X-linked

- Adenosine deaminase def

17
Q

Kawasaki Dz symptoms?

[Qid: 1852]

A
CRASH & burn:
- *C*conjunctivitis
- *R*rash
- *A*denopathy (Cervical)
- *S*trawberry tongue
- *H*ands/feet (Rash and peeling)
& burn (5 days of fever)
18
Q

Complication of Kawasaki dz?

[Qid: 1852]

A

Coronary a aneurysm

19
Q

2nd MCC brain neoplasm in children? Affects which str? [Qid: 1259]

A

Medulloblastoma

20
Q

Sheets of small cells w/ deeply basophilic nuclei and scant cytoplasm (small, round blue cells) and many mitotic figures on brain biopsy. [Qid: 1259]

A

Medulloblastoma

21
Q

African A w/ hilar adenopathy, pulm disease. Histo: non-caseating granulomas [Qid: 1147]

A

Sarcoidosis