week 1 Flashcards

1
Q

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

A

Oncogene responsible for cholangiocarcinoma and pancreatic adenocarcinoma

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2
Q

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

A

Oncogene responsible for Burkitt Lymphoma

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3
Q

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

A

Oncogene associated with Adenocarcinoma of the lung

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4
Q

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

A

Oncogene associated with breast cancer

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5
Q

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

A

oncogene associated with CML

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6
Q

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

A

oncogene associated with melanoma and hairy cell leukemia

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7
Q

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

A

Ts; Ovarian and breast

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8
Q

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

A

Ts; Colon, gastric, pancreatic; Familial Adematous polyposis

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9
Q

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

A

Ts; all Cancer; Li-fraumeni Syndrome

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10
Q

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

A

Ts; Retinoblastoma and osteosarcoma

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11
Q

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

A

Ts; Homologous DNA Repair

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12
Q

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

A

ts: Wilms Tumor

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13
Q

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

A

ts; Renal Cell carcinoma; Von Hippel Lindau

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14
Q

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

A

Niemann Pick Disease

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15
Q

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

A

Accumulation of Sphingomyelin due to deficient sphingomyelinase

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16
Q

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

A

Fabry Disease

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17
Q

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

A

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

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18
Q

Lysosomal storage disease: neurological regression, cherry red spot

A

Tay Sachs Disease

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19
Q

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

A

Accumulation of GM2 due to deficient Hexosaminidase

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20
Q

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

A

Guacher’s Disease

21
Q

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

A

accumulation of Glucocerebroside due to a deficiency in Beta-Glucocerebrosidase

22
Q

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

A

metachromatic Leukodystrophy

23
Q

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

A

Cerebroside Sulfate due to Arylsulfate A deficiency

24
Q

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

A

Krabbe Disease

25
Q

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

A

Accumulation of galactocerebroside due to a deficiency in galactocerebrosidase.

26
Q

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

A

Crohns Disease

27
Q

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

A

Ulcerative colitis

28
Q

Associations of ADPCKD

A

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

29
Q

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

A

PKD1, PKD2;

30
Q

Associations of ARPCKD

A

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

31
Q

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

A

Infraspinatus and theres minor

32
Q

Which rotator cuff muscles are responsible for abduction of the arm

A

Supraspinatus

33
Q

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

A

subscapularis and teres minor

34
Q

Which muscle of the rotator cuff is responsible for internal rotation

A

subscapularis

35
Q

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

A

Ankylosing spondylitis; Rheumatoid factor absent arthritis

36
Q

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

A

Golgi tendon organ (muscle fibers in series)

37
Q

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

A

intramural muscle fibers (muscle fibers in parallel)

38
Q

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

A

Homogentisic oxidase; Alkaptouria

39
Q

Two main causes of albinism

A

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

40
Q

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

A

Osgood- Schlatter disease; Traction Apophysitis

41
Q

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

A

Slipped capital femoral epiphysis treatment requires surgery

42
Q

Abnormal Ortolani and barlow manuevers that reveal hip instability or dislocation

A

Abnormal acetabulum development in newborns= developmental dysplasia of the hip

43
Q

Avascular necrosis of the femoral head in children

A

Legg-Calve Perthes Disease

44
Q

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

A

abductor pollicis longus and extensor pollicis brevis

45
Q

thigh adduction

A

superior gluteal L4-S1

46
Q

thigh extension

A

inferior gluteal L5-S2

47
Q

thigh adduction

A

Obturator L2-L4

48
Q

+ Anti- Saccharomyces Cerevisae Ab

A

Associated with Crohn’s Disease

49
Q

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

A

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