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Gen Path Exam 2 > Rando definitions > Flashcards

Rando definitions Flashcards

1
Q

Epigenetic changes

A

modulation of gene expression without altered DNA sequence

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2
Q

Mutation of which gene results in abnormal fibrilin of Marfan syndrome?

A

-FBN1

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3
Q

Functions of vitamin C

A
  1. formation and stabilization of collagen
  2. conversion of tyrosine to catecholamines
  3. role as an antioxidant
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4
Q

Hemorrhages are common findings in scurvy where in the body could you look?

A
  • skin
  • gingival mucosa
  • joints
  • behind eye
  • subarachnoid space
  • brain
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5
Q

Large doses of vitamin C are excreted in the urine and can lead to what?

A

-increases chance of stone formation

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6
Q

What are the general characteristics of disorders of primary hemostasis?

A
  • mucocutaneous bleeding

- lab- prolonged bleeding time and thrombocytopenia

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7
Q

What are the general characteristics of disorders of secondary hemostasis?

A
  • soft tissue bleeding

- lab- prolonged PT and/or PTT and/or thrombin time

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8
Q

What are the general characteristics of disorders of the regulatory system?

A
  • soft tissue bleeding

- lab- normal in screening tests

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9
Q

hemoptysis

A

-coughing up blood

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10
Q

dyspnea

A

difficulty breathing, perception of needing to breathe deeper and faster

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11
Q

atelectasis

A

collapse or loss of lung volume, inadequate expansion of airspaces

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12
Q

pneumothorax

A

air in pleural space, leads to collapse of the lung

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13
Q

pleural effusion

A

fluid in pleural space

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14
Q

empyema

A

suppuration in pleural cavity, often related to bacterial infection

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15
Q

Main causes of fluid accumulation in the lungs

A
  • increased intravascular pressure
  • hypoproteinemia
  • vascular damage
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16
Q

Main cause of lobar pneumonia?

A

-S. pneumoniae (90%)

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17
Q

Main causes of interstitial pneumonia?

A
  • viruses

- mycoplasma pneumoniae

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18
Q

What is the classic tissue reaction tuberculosis?

A

-caseating granuloma

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19
Q

The site of an early Tb infection is callled?

A

-Ghon lesion

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20
Q

This is a Tb parenchymal lesion + hilar lymph nodes

A

-ghon complex

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21
Q

Granulomatous inflammation is found outside of Tb in what other diseases?

A
  • histoplasmosis

- sarcoidosis

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22
Q

This is what smart people call iron accumulation in the proximal tubular cells in the kidney that is lost in the urine when these cells are shed

A

-hemosiderinuria

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23
Q

What is pernicious anemia?

A
  • autoantibodies against intrinsic factor
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24
Q

What are the two major pathogenic theories of aplastic anemia?

A
  • an acquired defect in stem cell production

- suppression of stem cells by T lymphocytes

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25
Q

When normal hematopoeitic cells in the marrow are crowded out by tumor or fibrosis

A

-myelophthisic anemia

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26
Q

Polycythemia vera

A
  • non-regulated/neoplastic proliferation of red cells and myeloid cells
  • treatment is removal of excess RBC by phlebotomy
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27
Q

Enlargement of lymph nodes, liver and spleen is more common in what kind of leukemia?

A

-Acute lymphoblastic leukemia

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28
Q

What cytoplasmic inclusion is characteristic to acute myelogenous leukemia?

A

-Auer rods

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29
Q

Which leukemia can be found with B cells that have IgM kappa surface immunoglobuin and high expression of BCL2

A

-Chronic lymphocytic leukemia

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30
Q

This type of leukemia is marked by a general increase of many types of blood cells and due to Philiadelphia chromosome issues

A

-chronic myelogenous leukemia

31
Q

Which leukemia has a terminal phase where there is an increase in immature blood cells in the bone marrow and decreased response to treatment called blast crisis

A

-chronic myelogenous leukemia

32
Q

This is a plasma cell disorder where high levels of Ig leads to Bence Jones Proteinuria

A

-Multiple myeloma

33
Q

Marfan genetic

A

Autosomal dominant

34
Q

Familial hypercholesterolinemia

A

iomitapide

frequency of 1-500

35
Q

Phenyketonuria

A

Autosomal recessive

phenylalanine hydroxylase

36
Q

Lysosomal storage diseases

A

Autosomal recessive

37
Q

Hurler disease

A

Autosomal recessive

deficiency if alpha-L-iduronidase

38
Q

Hunter syndrome

A

X-linked

deficiency of L-iduronate sulfatase

39
Q

Aneuploidy

A

any number that is not an exact multiple of the normal chromosome count

40
Q

Trisomy 21

A

meiotic non-dysjunction of chromosome 21 during formation of ovum

41
Q

Turner syndrome

A

Due to partial or complete absence of one of the X chromosomes

42
Q

Peripheral vasodilation due to heat stroke causes…

A

pooling and decreased circulating blood volume
Can lead to DIC
High mortality rate for athletes

43
Q

Direct effects of local freezing of cells and tissues

A
  • due to crystallization of water

- frostbite

44
Q

Indirect effects of hypothermia

A
  • due to circulatory changes

- trench foot gangrene

45
Q

Systemic reaction of hypothermia

A

-disorientation, including paradoxical undressing

46
Q

Marasmus

A
  • deficiency of caloric intake
  • loss of muscle mass
  • somatic protein compartment is depleted
47
Q

Kwashiorkor

A
  • greater deficiency of protein than total calories

- severe loss of visceral protein compartment

48
Q

Acute toxicity of Vitamin A

A

nausea, vomiting, blurred vision

49
Q

Chronic toxicity of vitamin A

A

anorexia, hair loss, pruritis

50
Q

Intrinsic pathway

A

K-12
12a-11
11a-9

51
Q

Extrinsic pathway

A

-Factor 7 by tissue factor

52
Q

Common pathway

A

10-10a
prothrombin to thrombin
fibrinogen to fibrin

53
Q

Fibrin clot crosslinked by…

A

Factor 13

54
Q

Antithrombin II in the presence of what causes thrombin complex?

A

Heparin

55
Q

What mutation inactivates the Protein C/S complex?

A

factor 5 leiden

56
Q

IN the presence of fibrin, what converts plasminogen to what?

A
  • tissue plasminogen activator

- plasmin

57
Q

PT measures what drug?

A

-coumadin/warfarin

58
Q

PTT measures what drug?

A

-heparin

59
Q

What situation of a mixing study is indicative of an inhibitor?

A

-if mixing does not correct clotting time

60
Q

Genetics of von willebrand disease

A

autosomal dominant

61
Q

Hemophilia A genetics

A

X-linked recessive

62
Q

Hemophilia B genetics

A

X-linked recessive

63
Q

3 reasons for pulmonary edema

A
  • increased intravascular pressure
  • hypoproteinemia
  • vascular disease
64
Q

Bronchiectasis what is it and what are predisposing factors?

A
  • chronic infection with permanent airway dilation

- other COPD, CF, scarring

65
Q

ARDS is due to what injury?

A

-endothelium and alveolar epithelium

66
Q

Disseminated Tb is called what?

A

-miliary TB

67
Q

Reasons for Crescentic Glomerulonephritis

A
  • AntiGBM antibody disease- 12%
  • Immune complex 44%
  • pauci-immune 44%
68
Q

What syndrome can lead to renal cell carcinoma

A

-von Hippel-lindau syndrome

69
Q

Two autosomal codominant hemolytic anemias

A
  • thalassemia

- sickle cell anemia

70
Q

hereditary spherocytosis genetics

A

-autosomal dominant

71
Q

G6PD deficiency genetics

A

-x-linked

72
Q

Hydronephrosis

A

Dilation of renal pelvis/calyces with parenchymal atrophy secondary to obstruction
Other causes of hydronephrosis: congenital urinary tract obstructions, enlarged prostate, neoplasms, neurogenic bladder, pregnancy, renal stones

73
Q

Neurofibromatsosis

A

autosomal dominant disease with nearly 100% penetrance; relatively common (1/3,000 live births) 


74
Q

Cavitary TB

A

Apex; significant scarring; may seed the large airways, lymph nodes, or blood; direct extension to the pleura (effusion)

Gen Path Exam 2 (12 decks)

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