week 1

Question 1

RAS is a (TS/ P-Onc?) associated with what cancer?

Answer 1

Oncogene responsible for cholangiocarcinoma and pancreatic adenocarcinoma

Question 2

c-Myc is a (TS/ P-Onc?) associated with what cancers?n

Answer 2

Oncogene responsible for Burkitt Lymphoma

Question 3

EGFR a (TS/ P-Onc?) associated with what cancers

Answer 3

Oncogene associated with Adenocarcinoma of the lung

Question 4

HER2 is a (TS/ P-Onc?) associated with what cancers

Answer 4

Oncogene associated with breast cancer

Question 5

ABL is a (TS/ P-Onc?) associated with what cancers

Answer 5

oncogene associated with CML

Question 6

BRAF (RAS signal transduction) is a (TS/ P-Onc?) associated with what cancers?

Answer 6

oncogene associated with melanoma and hairy cell leukemia

Question 7

BRCA1/2 is a (TS/ P-Onc?) associated with what cancers

Answer 7

Ts; Ovarian and breast

Question 8

APC/ Beta-Catenin/ WNT pathway is a (TS/P-onc?) associated with what cancers

Answer 8

Ts; Colon, gastric, pancreatic; Familial Adematous polyposis

Question 9

TP53 is a (TS/ P-Onc?) associated with what cancer?

Answer 9

Ts; all Cancer; Li-fraumeni Syndrome

Question 10

Rb is a is a (TS/ P-Onc?) associated with what cancer?

Answer 10

Ts; Retinoblastoma and osteosarcoma

Question 11

BRCA1/2 Defects are associated with what kind of DNA Repair mechanism?

Answer 11

Ts; Homologous DNA Repair

Question 12

WT-1 is a (TS/ P-Onc?) associated with what cancer?

Answer 12

ts: Wilms Tumor

Question 13

VHL is a (TS/ P-Onc?) associated with what cancer?

Answer 13

ts; Renal Cell carcinoma; Von Hippel Lindau

Question 14

Lysosomal storage disease: Cherry red spot on macular, hepatosplenomegaly, neurological regression

Answer 14

Niemann Pick Disease

Question 15

Niemann Pick disease is an accumulation of what? Due to what deficiency?

Answer 15

Accumulation of Sphingomyelin due to deficient sphingomyelinase

Question 16

Lysosomal storage disease: neuropathic pain, germ pathology like angiokeratoma and telangiectasia)

Answer 16

Fabry Disease

Question 17

Fabry’s disease is an accumulation of what? Due to what deficiency?

Answer 17

Accumulation of Ceramide Trihexodase/ Globotriascylceramide due to Alpha-galactosidase A deficiency

Question 18

Lysosomal storage disease: neurological regression, cherry red spot

Answer 18

Tay Sachs Disease

Question 19

Tay Sach’s is an accumulation of what? Due to what deficiency?

Answer 19

Accumulation of GM2 due to deficient Hexosaminidase

Question 20

Lysosomal storage disease: hepatosplenomegaly, bone pain/ crisis, pancytopenia

Answer 20

Guacher’s Disease

Question 21

Guacher’s Disease is an accumulation of what? Due to what deficiency?

Answer 21

accumulation of Glucocerebroside due to a deficiency in Beta-Glucocerebrosidase

Question 22

Lysosomal storage disease: central and peripheral demyelination leading to peripheral neuropathy and ataxia

Answer 22

metachromatic Leukodystrophy

Question 23

Metachromatic leukodystrophy is an accumulation of what? Due to what deficiency?

Answer 23

Cerebroside Sulfate due to Arylsulfate A deficiency

Question 24

Lysosomal storage disease: developmental delay, optic atrophy, hypotonia, seizures

Answer 24

Krabbe Disease

Question 25

Krabbe Disease is an accumulation of what? Due to what deficiency?

Answer 25

Accumulation of galactocerebroside due to a deficiency in galactocerebrosidase.

Question 26

transmural inflammation, perianal fistulas, skip lesions, non-caseating granulomas

Answer 26

Crohns Disease

Question 27

Continuous mucosal involvement, cryp abscess, toxic megacolon, perforations, lead pipe appearance on imaging, friable- with ulcerations grossly

Answer 27

Ulcerative colitis

Question 28

Associations of ADPCKD

Answer 28

berry aneurysms, benign hepatic cysts, diverticulosis and mitral valve prolapse

Question 29

hematuria, hypertension, urinary tract infection and renal failure--> ADPCKD mutation?

Answer 29

PKD1, PKD2;

Question 30

Associations of ARPCKD

Answer 30

congenital hepatic fibrosis, oliguric renal failure in utero can cause potter sequence

Question 31

Which rotator cuff muscles are responsible for external rotation of the arm

Answer 31

Infraspinatus and theres minor

Question 32

Which rotator cuff muscles are responsible for abduction of the arm

Answer 32

Supraspinatus

Question 33

Which muscles of the rotator cuff are responsible for adduction of the arm

Answer 33

subscapularis and teres minor

Question 34

Which muscle of the rotator cuff is responsible for internal rotation

Answer 34

subscapularis

Question 35

Ankylosis, restrictive lung disease, aortic regurgitation and anterior uveitis is all part of what Spondyloarthropathy

Answer 35

Ankylosing spondylitis; Rheumatoid factor absent arthritis

Question 36

The organ respond for muscle relaxation when muscle exerts too much force

Answer 36

Golgi tendon organ (muscle fibers in series)

Question 37

Muscle fibers responsible for the stretch reflex and the and deep tendon reflex

Answer 37

intramural muscle fibers (muscle fibers in parallel)

Question 38

blueish black CT, ear cartilage, and sclera; Urine turns black on prolonged exposure to air; deficiency of what enemy

Answer 38

Homogentisic oxidase; Alkaptouria

Question 39

Two main causes of albinism

Answer 39

Chediak Hagashi (failure of phagolysosome fusion); Tyrosinase deficiency (cant make melanin)

Question 40

overuse injury of the secondary ossification center of the tubercle (apophysis); presents as pain and swelling of the tibial tubercle (the insertion site of the patellar ligament) caused by repetitive contractions or repeated avulsions

Answer 40

Osgood- Schlatter disease; Traction Apophysitis

Question 41

Hip/ Knee pain that results in an altered gait in an 12-year old obese child

Answer 41

Slipped capital femoral epiphysis treatment requires surgery

Question 42

Abnormal Ortolani and barlow manuevers that reveal hip instability or dislocation

Answer 42

Abnormal acetabulum development in newborns= developmental dysplasia of the hip

Question 43

Avascular necrosis of the femoral head in children

Answer 43

Legg-Calve Perthes Disease

Question 44

De Quervain tenosynovitis is associated with non-inflammatory thickening of what tendons of the hand

Answer 44

abductor pollicis longus and extensor pollicis brevis

Question 45

thigh adduction

Answer 45

superior gluteal L4-S1

Question 46

thigh extension

Answer 46

inferior gluteal L5-S2

Question 47

thigh adduction

Answer 47

Obturator L2-L4

Question 48

+ Anti- Saccharomyces Cerevisae Ab

Answer 48

Associated with Crohn's Disease

Question 49

MSH2, MLH1, MSH6, PMS2 is associated with what cancer syndrome?

Answer 49

Lynch Syndrome: endometrial, colonic and ovarian cancer; does not cause polyps