Brs Path Batch 1

Front 1

autophagic granules often suggest?

Back 1

these are intracytoplasmic vacuoles containing debris from degraded organelles; suggest ATROPHY

Front 2

squamous metaplasia assoc'd with?

Back 2

chronic irritation, vit A deficiency

Front 3

myeloid metaplasia =?

Back 3

extramedullary hematopoiesis

Front 4

phosphofructokinase activity in cell injury?

Back 4

increased which leads to increased glycolysis (catalyzes F6P-->F1,6BP?), accumulation of lactate. Acidic pH -->reversible clumping of nuclear chromatin

Front 5

what are myelin figures?

Back 5

reversible morphologic signf of late stage hypoxic cell injury; whorl-like structures, probably from damaged membranes

Front 6

which cells are most susceptible to hypoxic injury?

Back 6

neurons, esp cerebella Purkinje cells and hippocampal neurons

Front 7

proliferation and hypertrophy of hepatocyte sER--classic ultrastructural markers of?

Back 7

barbiturate intoxication

Front 8

what happens to liver when exposed to CCl4?

Back 8

chemical cell injury; CCl4 processed by P450s to CCl3 radical which--> lipid peroxidation and damage of cell membrane, disaggregation of ribosomes--> fatty change (b/c can't make proteins necessary for dealing with fat)

Front 9

what nuclear changes seen in coagulative necrosis?

Back 9

pyknosis (chromatin clumping); karyorrhexis (chromatin fragmentation); karyolysis (fading of chromatin); disappearance of stainable nuclei

Front 10

what are Councilman bodies?

Back 10

apoptotic hepatocytes seen in viral hepatitis

Front 11

role of p53 in apoptosis?

Back 11

facilitates apoptosis by decreasing transcription of blc-2 (antiapoptotic) and increasing bax

Front 12

what is Argyria?

Back 12

silver poisoning. May lead to permanent gray discoloration of skin and conjunctivae

Front 13

hemosiderosis vs. hemochromatosis

Back 13

hemosiderosis--accumulation of ferritin aggregates that stain but NO tissue/organ damage; hemochromatosis--more extensive, WITH organ/tissue DAMAGE

Front 14

hereditary hemochromatosis genetics?

Back 14

Hfe gene on chromosome 6 mutation (get triad of micronodular cirrhosis, DM, skin pigmentation)

Front 15

"brown atrophy" refers to?

Back 15

lipofuscin accumulation and organ atrophy (common in old age?) (N.B. this is NOT "brown tumor"--osteitis fibrosa cystica??)

Hint 15

None

Front 16

milk-alkali syndrome

Back 16

nephrocalcinosis and renal stones due to milk + antacid self treatment for peptic ulcer

Front 17

what is dystrophic calcification?

Back 17

(different from metastatic calcification) occurs in previously damaged tissue, NOT due to hypercalcemia

Front 18

leukocyte ROLLING mediated by?

Back 18

selectins

Front 19

leukocyte TRANSMIGRATION mediated by?

Back 19

PECAM-1

Front 20

C5a, LTB4, HETE, kallikrein, bacterial products are all?

Back 20

chemotactic factors for PMNs (among other things, probably)

Hint 20

None

Front 21

most important opsonins?

Back 21

IgG, C3b

Front 22

what stimualte release of His from basophils and platelets?

Back 22

Ag binding to membrane-bound IgE; anaphylatoxins (C3a, C5a); heat, cold; IL-1

Front 23

what is endothelial PGI2?

Back 23

powerful vasoDILATOR and inhibitor of platelet aggregation (epoprostenol is PGI2 analog, vasodilator for pulm HTN)

Hint 23

None

Front 24

products of lypoxygenase pathway of arachidonic acid metabolism?

Back 24

HDETES (5-HDETE-->HETE, a potent PMN chemotacter)

Front 25

membrane attack complex composed of which complementies?

Back 25

C5b-C9

Front 26

What happens to catalase+ organisms in Chronica Granulomatous dz?

Back 26

ingested but not killed b/c of NADPH oxidase deficiency which results in no H202 substrate for MPO. Catalase negatives don't get rid of own H202 so there the host NADPH oxidase can still function

Hint 26

None

Front 27

how is chediak-higashi syndrome characterized functionally? Morphologically?

Back 27

functionally--abnl microtubule formation-->impaired chemotaxis and migration of PMNs; morph--lg cytoplasmic granules, melanosome also affected (albinism!)

Hint 27

None

Front 28

Leukocyte Adhesion Deficiency type 1

Back 28

deficiency of beta 2 integrins

Front 29

Leukocyte Adhesion Deficiency type 2

Back 29

fucosyltransferase gene mutation (fucosyltransferase needed for synthesis of Sialyl Lewis X PMNS…i think this is aka CD15s...interacts with selectins on endothelium?)

Hint 29

None

Front 30

hemorrhagic infarcts usually occur where?

Back 30

in lung and GIT, wherever redundant arterial blood supply

Front 31

how is PTT affected in Antiphospholipid Ab Syndrome?

Back 31

PROLONGED which is weird for a thrombotic D/O. probably artifact from interaction of Ab with test reagent

Front 32

what are lines of Zahn?

Back 32

alternating layers of dark gray platelets and lighter fibrin; in mature arterial thrombi

Hint 32

None

Front 33

"mural thrombus"=

Back 33

thrombus that adheres to one wall of heart chamber or major artery

Front 34

branch of carotid artery most commonly involved in thromboembolism?

Back 34

middle cerebral artery

Front 35

specific gravity of transudate?

Back 35

<1.012

Front 36

7 morphologic manifestations of shock

Back 36

1. acute tubular necrosis (kidney); 2. centrilobular necrosis (liver). 3. fatty change (heart or liver); 4. areas of necrosis (brain); 5 .patchy mucosal hemorrhages (colon); 6. depletion of lipid (adrenal cortex); 7. pulmonary edema

Front 37

most common cause of aneuploidy?

Back 37

meiotic nondisjunction

Front 38

what is a Roberstonian translocation

Back 38

long arms (q) or 2 acrocentric chromosomes are joined with common centromere and the short arms (p) are lost

Front 39

familial form of Down's?

Back 39

parental meiotic translocation; 3-5% of cases; no relation to maternal age

Front 40

what are Brushfield spots?

Back 40

small white spots on periphery of iris in Down syndrome

Front 41

complications of Down syndrome?

Back 41

congenital heart dz; acute leukemia (esp lymphoblastic); increased susceptibility to infection; Alzheimers (middle age)

Front 42

maternal screening for Down syndrome?

Back 42

alpha fetoprotein is LOW (marker for liver and germ cell cancers, btw); hCG is HIGH; unconjugated estriol is LOW

Front 43

Cri du chat

Back 43

5p del; severe mental retardation, microcephaly, catlike cry, hypertelorism

Front 44

DiGeorge syndrome

Back 44

microdeletion 22q11--> CATCH 22 (Cardiac abnl, Abnl facies, T cell deficity/Thymic hypoplasia, Cleft palate, Hypocalcemia (b/c dec'd PTH)..all due to microdeletion of 22!)

Front 45

Edward's syndrome

Back 45

trisomy 18 (nondisjunction); microcephaly, micrognathia, rocker-bottom feet, congenital heart dz

Front 46

name the dz: microcephaly, rocker-bottom feet, micognathia, congenital heart dz

Back 46

Edward's syndrome (trisomy 18)

Front 47

Name the dz: microcephaly, microphthalmia, cleft lip/palate, polydactyly, congenital heart dz

Back 47

Patau syndrome (trisomy 13)

Front 48

Prader Willi syndrome and Angelman syndrome--examples of what?

Back 48

genomic imprinting. Same del but if from dad-->Prader Willi (uncontrolled appetite!); if from mom-->Angelman ("happy puppet")

Front 49

what are Lisch nodules?

Back 49

pigmented iris hamartomas seen in von Recklinghausen dz (NF)

Front 50

what is the specific mutation in von Recklinghausen dz?

Back 50

mutation in NF1 gene which codes for GAP--GTPase activating protein

Front 51

increased incidence of what other tumors seen in von Recklinghausen dz?

Back 51

pheochromocytoma, Wilms tumor, rhabdomyosarcoma, leukemia

Front 52

Glial nodules and distorted neurons in cerebral cortex characterize?

Back 52

tuberous sclerosis

Front 53

tuberous sclerosis also assoc'd with what tumors?

Back 53

rhabdomyomas of heart, renal angiolipomyomas

Front 54

von Hippel Lindau dz assoc'd with what cancer?

Back 54

renal cell carcinoma; also: hemangioblastomas, adnemoas, and cysts of liver, kidney, pancreas

Front 55

Tay-Sachs--what's the enzyme deficiency and what accumulates?

Back 55

hexosaminidase A--> accumulation of GM2 ganglioside

Front 56

cherry red spot especially assoc'd with what lysosomal storage dz?

Back 56

Tay-Sachs (hexosaminidase A def); less commonly, in Niemann-Pick dz

Front 57

glucocerebrosidase def and accumulation of glucocerebroside =?

Back 57

Gaucher dz (get Gaucher cells--enlarged histocytes with wrinkled tissue paper cytoplasm..where's the food analogy??)

Front 58

variants of Gaucher dz?

Back 58

(def of glucocerebrosidase); type 1--80%, normal lifespan possible, no CNS; type 2--infantile, death <1yr, CNS only; type 3--juvie, less severe than type 2, CNS and viscera

Front 59

Hurley syndrome

Back 59

AR, mucopolysaccharidosis; alpha-L-iduronidase def-->accumulation of heparin sulfate and dermatan sulafate; death by 10 y/o

Hint 59

None

Front 60

deficiency in von Gierke's dz?

Back 60

glucose 6 phosphatase

Front 61

deficiency in Pompe's dz?

Back 61

alpha1,4 glucosidase-->accumulation of glycogen, esp in liver, heart, sk mm; death <3 y/o

Hint 61

None

Front 62

deficiency in Cori dz?

Back 62

amylo1,6glucosidase (debranching enzyme)-->variable accumulation of glycogen leads to stunted growth, hepatomegaly, hypoglycemia

Front 63

McArdle syndrome

Back 63

muscle phosphorylase def--> accumulation of glycogen in mm; get painful msucle cramps and weakness post-exercise

Front 64

infantile cataracts characteristic of what carb metabolism d/o?

Back 64

galactosemia

Front 65

name the dz: failure to thrive, infantile cataracts, mental retardation, cirrhosis?

Back 65

galactosemia (classic)

Front 66

name the dz: mental deterioration, musty body odor in blond haired blue eyed kids

Back 66

PKU (phenylalanine hydroxylase mutation)

Front 67

name the dz: dark urine, ochronosis (dark pigmentation of fibrous tissues and cartilage)

Back 67

alkaptonuria (homogentisic oxidase def.) AR

Hint 67

None

Front 68

defect in Maple Syrup urine dz?

Back 68

defect in any of the proteins in the branched chain alpha ketoacid dehydrogenase complex

Front 69

urine in maple syrup dz?

Back 69

smells like maple syrup (duh); high levels of keto acids of LEUCINE, ISOLEUCINE, VALINE

Front 70

chromosomal abnormality in cystic fibrosis?

Back 70

CFTR mutation on csome 7

Front 71

what organism is common cause of death in CF?

Back 71

Pseudomonas aeruginosa

Front 72

what X-linked d/o has characteristic angiokeratomas?

Back 72

Fabry dz (alpha-galactosidase A def-->ceramide trihexoside accumulation)

Front 73

normal ratio of T cells?

Back 73

2:1 CD4+:CD8+

Front 74

Hot T-Bone stEAk

Back 74

fever--IL-1; T cell stim--IL-2; bone marrown stim--IL-3; IgE production stim--IL-4; IgA production stim--IL-5

Front 75

classic vs alternate pathway

Back 75

classic--initiated by reaction with Ag-Ab complex, leads to MAC; alternate--initiated directly by nonimmunologic stimuli (e.g. invader), leads to MAC

Front 76

what is MHC?

Back 76

major histocompatibility complex. Region on csome 6 where genes coding for HLA Ag are

Front 77

class I vs class II HLA?

Back 77

I--on almost all human cells, imp in graft rejection; II--mostly on immunocompetent cells

Front 78

warm Ab AIHA, hemolytic dz of newborn, Goodpasture's--all examples of what kind of hypersensitivity reaction?

Back 78

type II (cytotoxic)

Front 79

C1 esterase inhibitor deficiency--> ?

Back 79

hereditary angioedema; type 1 hypersensitivity

Front 80

What happens in type III hypersensitivity reaction?

Back 80

Ab binds Ag (NOT intrinsic part of target cells). Aggregates deposit in vessel walls, etc. complement binds--> PMNs come and cause damage. Hageman factor also activated-->intrinsic pathway coag--> thrombosis and activation of kinins --> vasodilation, edema

Hint 80

None

Front 81

serum sickness--what kind of hypersensitivity reaction?

Back 81

type III

Front 82

Arthus reaction?

Back 82

LOCALIZED immune complex dep (type III). Occurs when Ag introduced--via injection or organ transplant-- in presence of preformed Abs

Front 83

name the type of transplant rejections: T cell mediated, days-months

Back 83

ACUTE rejection

Front 84

chronic rejection primarly due to?

Back 84

Ab-mediated vascular damage

Front 85

underlying problem in X-linked agammaglobulinemia of Bruton?

Back 85

mutation in tyrosine kinase gene--> block in maturation of pre B cells to B cells

Front 86

Name the dz: absence of plasma cells in tissue, absent of poorly defined germinal centers

Back 86

X-linked agammaglobulinemia

Front 87

Name the dz: recurrent viral and fungal infections, tetany

Back 87

DiGeorge syndrome (CATCH-22)

Front 88

ADA deficiency--> ?

Back 88

accumulation of deoxyadenosine, deoxy-ATP which are toxic to lymphocytes. Seen in ~50% of AR SCID

Front 89

Clinical manifestations of SCID

Back 89

severe infections (of all sorts); high incidence of malignancies; failure to thrive; GVHD after blood 'fusions

Front 90

Wiskott-Aldrich syndrome

Back 90

X-linked d/o with eczema, thrombocytopenia, recurrent infections

Front 91

Significance of gp120?

Back 91

cell surface protein of HIV virion, has binding sites for CD4 (not just on T cells)

Front 92

Are AIDS pts hyPER or hyPOgammaglobulinemic?

Back 92

paradoxically, hyPER b/c even though can't make specific Abs, have polyclonal B cell proliferation

Front 93

significance of dsDNA in lupus?

Back 93

ANA react with dsDNA--> very specific for lupus, shows characteristic "rim" pattern on IF; also identifies pt at risk for glomerulonephritis

Hint 93

None

Front 94

CREST syndrome

Back 94

limited scleroderma; Calcinosis, Raynaud phenom, Esophageual dysfxn, Sclerodactyly, Telangiectasias; get anticentromeres, pulm HTN

Hint 94

None

Front 95

secondary amyloidosis (reactive systemic amlyoidosis)

Back 95

AA protein dep (from SSA); chronic tissue destruction--> SSA; usually involves parenchymous organs, esp kidneys)

Front 96

Familial Mediterranean fever

Back 96

AR, episodic fever and polyserositisl; AA amyloid depositon

Front 97

amylin=?

Back 97

amyloid thought to be derived from glucagon or insulin; seen in type II DM in islet cells

Front 98

carcinomas are malignant tumors what what origin?

Back 98

EPITHELIAL (sq cell, tranisitional cell, adeno cell)

Front 99

what is desmoplasia?

Back 99

tumor-induced proliferation of non-neoplastic fibrous connective tissue, assoc'd with adenocarcinoma

Front 100

origin of sarcomas?

Back 100

mesenchymal

Front 101

what is a choristoma?

Back 101

small non-neoplastic area of NORMAL tissue misplaced within another organ

Hint 101

None

Front 102

What is Trousseau phenomenon?

Back 102

migratory thrombophlebitis assoc'd with underyling carcinoma--usually of lung or pancreas

Hint 102

None

Front 103

CEA is tumor marker for?

Back 103

carcinomas of COLON, pancrease, stomach, lung, breast

Front 104

alpha fetoprotein is marker for?

Back 104

(LOW in Downs); hepatocellular carcinoma, nonseminomatous germ cell tumors of the nuts; also increased in fetal anencephaly and other NTDs

Front 105

radium watch-dial workers tend to get what kind of cancer?

Back 105

osteosarcoma

Hint 105

None

Front 106

uranium miners tend to get what kind of cancer?

Back 106

lung cancer

Front 107

How is ras an oncogene?

Back 107

ras codes for p21. mutated--> aberrant p21 that can bind and be activated by GTP but can't be inactivated. (mutated in ~25-30% of malignancies!)

Front 108

I say "t(8;14)", you say?

Back 108

Burkitt's lymphoma (inc'd c-myc)

Front 109

I say, t(14;18), you say?

Back 109

Follicular lymphoma (inc'd bcl-2)

Front 110

I say, t(9;22), you say?

Back 110

CML, Phl csome, bcr-abl, Gleevec\

Front 111

I say, t(15;17), you say?

Back 111

APL, tx: retinoic acids (do NOT give regular chemo b/c of tumor lysis syndrome and release of Auer rod material!)

Hint 111

None

Front 112

what is a double minute?

Back 112

small free chromosome-like body resulting from extensive gene amplification

Front 113

2 examples of gene amplification in cancer?

Back 113

neuroblastoma (n-myc amp); breast cancer--her2neu

Front 114

5 cancer suppressor genes

Back 114

Rb, p53, WT-1,2 (Wilms tumor), APC, BRCA-1

Front 115

MEN IIa

Back 115

medullary thyroid cancer, bilateral pheochromocytomas, hyperparathyroidism (hyperplasia or tumor); ret mutation

Hint 115

None