General Pathology Flashcards

1
Q

What are the consequences of the defect in cystic fibrosis?

A

defective chloride channel which causes secretion of abnormally thick mucus that plugs lungs, pancreas, and liver

leads to recurrent pulmonary infections (pseudomonas, S. aureus), chronic bronchitis, bronchiectasis, pancreatic insufficiency (malabsorption, steatorrhea), meconium ileus in newborns

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2
Q

What is the term given to a piece of thrombus that has dislodged?

A

thromboembolism

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3
Q

Asbestos causes what types of cancer?

A

bronchogenic and mesothelioma cancers

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4
Q

What is the deficiency enzyme, cardinal clinical features, and glycogen structure in Hers disease?

A

hepatic glycogen phosphorylase

mild fasting hypoglycemia, hepatomegaly, cirrhosis

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5
Q

What type of necrosis is seen in the brain and associated with an infection?

A

liquefactive necrosis

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6
Q

Name five congenital abnormalities in fetal alcohol syndrome.

A

pre- and postnatal developmental retardation, microcephaly, facial abnormalities, limb discoloration, heart/lung fistulas

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7
Q

What are the phenotypes in female and male pseudohermaphroditism?

A

female XX

male XY

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8
Q

Name two enzymes that allow neoplastic cells to invade the basement membrane.

A

collagenase, hydrolase

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9
Q

Name the disease associated with beta amyloid deposition in the cerebral cortex.

A

Alzheimers

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10
Q

What role do NO and PGI2 have on platelets?

A

inhibition of platelet aggregation

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11
Q

What are three sequelae of familial hypercholesterolemia?

A

severe atherosclerotic disease early in life, tendon xanthomas (esp. achilles tendon), MI < 20

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12
Q

Abnormla cells that lack differentiation are called __ cells.

A

anaplastic

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13
Q

C-myc oncogenes are associated with which neoplasm?

A

Burkitt’s lymphoma

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14
Q

What type of mutation is involved in sickle cell anemia?

A

point mutation, leading to alterations in hemoglobin

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15
Q

Aspirin inhibits which pathway to reduce inflammation?

A

aspirin inhibits the cyclooxygenase pathway to reduce inflammation

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16
Q

Do infarcts of heart, brain, kidney, and spleen cause a pale or red infarct?

A

pale infarct

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17
Q

Name the associated tumor with the following tumor suppressor gene mutations: Rb, APC, WT1

A

Rb - retino blastoma

APC - colorectal CA

WT1 - Wilm’s tumor

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18
Q

HPV is responsible for which cancers?

A

cervical, penile, anal

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19
Q

Which tumor marker is elevated in hydatiform moles?

A

beta-HCG

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20
Q

Define hyperplasia.

A

proliferation of cells within an organ/tissue beyond that which is ordinarily seen

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21
Q

TRAP is a tumor marker for which neoplasm?

A

hairy cell leukemia

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22
Q

Name two characteristics of adult polycystic kidney disease.

A

always bilateral

massive enlargement of KDs

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23
Q

Secondary amyloidosis can cause which condition in the KD?

A

nephrotic syndrome

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24
Q

What is a mural thrombus?

A

thrombus located on the wall of the heart of major artery, that can dislodge and cause arterial emboli

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25
Q

Ovarian tumors are associated with which tumor marker?

A

CA-125

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26
Q

What is the name of the major pigment found in bile?

A

bilirubin

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27
Q

What is fat necrosis?

A

focal areas of fat destruction associated with release of activated pancreatic enzymes into pancreatic tissues

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28
Q

Describe genital development in 5-alpha-reductase deficiency.

A

ambiguous genitalia until puberty, when inc. T -> masculinization of genitalia

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29
Q

Define pleomorphism.

A

variation in size, shape, and staining of anaplastic cells

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30
Q

What type of inflammation primarily involves neutrophils?

A

acute inflammation

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31
Q

Name two associations with neural tube defects during pregnancy.

A

low folic acid intake, elev. alpha-fetoprotein in amniotic fluid

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32
Q

Name the benign tumor composed of cells originating from more than one germ layer.

A

teratomas

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33
Q

What is the genetic defect in Marfan syndrome?

A

fibrillin gene mutation leads to CT disorders

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34
Q

What are five classic characteristics of people with neurofibromatosis type 1?

A

cafe-au-lait spots, neural tumors, Lisch nodules (pigmented iris hamartomas), skeletal disorders (scoliosis), increased tumor susceptibility

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35
Q

What is the neural tube defect that involves herniation of meninges and spinal cord through spinal canal defect?

A

meningomyelocele

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36
Q

What is the molecular defect in cystic fibrosis?

A

defective Cl- channel

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37
Q

What is the ocular risk in Marfan syndrome?

A

subluxation of lenses

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38
Q

Actinic keratosis predisposes to which disease?

A

SCC of skin

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39
Q

What is the molecular defect in testicular feminization syndrome?

A

defect in DHT receptor

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40
Q

Name the deficient enzyme and the cardinal clinical features in Andersons disease. Describe the resulting glycogen structure.

A

branching enzyme

osmotic problems cause hypotonia, cirrhosis, and death by age 2

glycogen structure will have long non-branched strands of glycogen

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41
Q

Breast, ovarian, and gastric carcinomas all have which oncogene mutation in common?

A

erb-B2

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42
Q

Which neural tube defect is usually seen at lower vertebral levels?

A

spina bifida occulta

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43
Q

Define metaplasia.

A

transformation of a mature differentiated cell type into another mature differentiated cell type

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44
Q

A benign tumor of blood vessels is termed __ and a malignant blood tumor is termed __.

A

hemangioma

angiosarcoma

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45
Q

Which sequelae are associated with adult polycystic kidney disease?

A

berry aneurysms

mitral valve prolaspse

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46
Q

What is the term given to a cell with reversible preneoplastic changes accompanied by abnormal shape and size?

A

dysplasia

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47
Q

Kaposi’s sarcoma and aggressive malignant lymphomas are associated with which disease?

A

HIV/AIDS

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48
Q

Which type of exudate is accompanied by liquefactive necrosis?

A

suppurative exudate (aka pus)

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49
Q

What is the chromosomal anomaly in Turner’s syndrome?

A

female XO

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50
Q

Name the hemoglobin-derived golden yellow to brown pigment that stores iron in cells.

A

hemosiderin

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51
Q

Which amino acid is used in the treatment of cystic fibrosis

A

N-acetylcysteine to loosen mucous plugs

52
Q

Name five characteristics of Klinefelter’s syndrome.

A

testicular atrophy, enuchoid body shape, tall/long extremities, gynecomastia, female hair distribution

53
Q

What causes female pseudohermaphroditism?

A

excess exposure to androgenic steroids during early gestation (CAH)

54
Q

What are the genotypic possibilities for a true hermaphrodite?

A

46XX or 47XXY

55
Q

What is the deficient enzyme, cardinal clinical features and glycogen structure in McArdles disease?

A

muscle glycogen phosphorylase

muscle cramps and weakness on exercise

glycogen structure is normal

56
Q

What is caseous necrosis?

A

coagulative necrosis associated with TB infx and granulomatous inflammation

57
Q

What is liquefactive necrosis?

A

cellular digestion into a liquid mass, characteristic of bacterial or fungal infections

58
Q

Which neural tube defect is associated with failure of the bony spinal canal to close, but no structural herniation?

A

spina bifida occulta

59
Q

What are the physical characteristics of achondroplasia?

A

dwarfism, short limbs, normal head/trunk size

60
Q

What disease is associated with bilateral acoustic neuroma?

A

neurofibromatosis type 2

61
Q

Name the three major events occurring in acute inflammation.

A

hemodynamic change, inc. vascular permeability, extravasation of leukocytes

62
Q

What are three types of mutations?

A

point, deletion, trinucleotide repeats

63
Q

The virus associated with Burkitt’s and nasopharyngeal cancer is __.

A

EBV

64
Q

Name four features associated with fragile X syndrome.

A

macro-orchidism (enlarged testes), long face w/ a large jaw, large everted ears, autism

65
Q

Name eight findings associated with trisomy 21.

A

intellectually disabled, flat facial profile, prominent epicanthal folds, simian crease, duodenal atresia, congenital heart dz, alzheimers in affected > 35, inc. risk of ALL

66
Q

Name pigment that is particularly prominent in the liver and heart of aging patients and patients with severe malnutrition/cancer cachexia

A

lipofuscin

67
Q

Familial hypercholesterolemia is what type of mutation?

A

deletion of a single base pair

68
Q

Name the plasma protein at the center of a number of plasma protease cascades involved in inflammation.

A

hageman factor (factor XII) stimulates intrinsic pathway of blood coagulation and indirectly, the extrinsic pathway

69
Q

A pathologist performs a microscopic examination of a growth removed from the back of a patient’s hand and reports it to be a “papilloma.” Is this benign or malignant? What was the prognosis?

A

benign

excellent prognosis

70
Q

What type of mutation involves a single base pair removal from DNA that leads to change in the reading frame for replication?

A

deletion

71
Q

What is the MC cause of amyloidosis?

A

primary light chain deposition as seen in multiply myeloma

72
Q

What is the genetic defect in cystic fibrosis?

A

autosomal-recessive defect in CFTR gene on chromosome 7

73
Q

What are the genotype and hormone levels in testicular feminization syndrome?

A

46XY

elev. T, estrogen, and LH

74
Q

Which disease is responsible for a colon that becomes covered with glandular polyps after puberty?

A

familial adenomatous polyposis (FAP)

75
Q

What are the skeletal abnormalities in Marfan syndrome?

A

long extremities, hyperextensive joints, long tapering fingers/toes

76
Q

What is the chromosomal abnormality in Klinefelter’s syndrome?

A

XXY

77
Q

An arterial thrombi breaks loose form the popliteal region. Where in the body is the most likely location the clot will end up and cause serious complications?

A

lung via rt atrium via IVC -> PE

78
Q

A single base pair alteration in DNA that leads to a single amino acid change is what type of mutation?

A

point mutation

79
Q

Define hypertrophy.

A

increase in cell size

80
Q

Down syndrome is associated with which neoplasm?

A

ALL

81
Q

What are the clinical findings in Von-Hippel-Lindau disease?

A

hemangioblastomas of retina/cerebellum/medulla

~50% develop multiple bilateral RCC and other tumors

82
Q

What disease involves elevated LDL owing to defective or absent LDL receptor?

A

familial hypercholesterolemia

83
Q

What are the findings in cri-du-chat syndrome?

A

microcephaly, severe mental retardation, high-pitched crying/mewing, epicanthal folds, cardiac abnormalities

84
Q

Define carcinoma in situ.

A

when cells have an increased nuclear to cytoplasmic ratio, but has not invaded the basement membrane

85
Q

Fragile X and Huntington’s disease involve what type of mutation?

A

trinucleotide repeats

86
Q

What is a saddle embolus?

A

embolus that lodges in the bifurcation of the main pulmonary artery

87
Q

Why does cystic fibrosis cause infertility in males?

A

absent vas deferens

88
Q

Name four common chemical mediators that cause vasodilation.

A

histamine, certain prostaglandins, NO, bradykinin

89
Q

What genetic change is involved in fragile X syndrome?

A

X-linked defect affecting the methylation and expression of the FMR1 gene

90
Q

Squamous __ occurs in the trachea and bronchi of smokers.

A

metaplasia

91
Q

What vitamins are often deficient in cystic fibrosis?

A

fat-soluble A, D, E, K

92
Q

Which condition features depression, progressive dementia, choreiform movements, caudate atrophy, and dec. levels of GABA and ACh in the brain?

A

Huntington’s disease

93
Q

What is the MC chromosomal disorder and cause of congenital intellectual disability?

A

down syndrome (trisomy 21), addition of third chromosome on chromosome 21

94
Q

The term __ implies epithelial origin, whereas __ implies mesenchymal origin.

A

carcinoma

sarcoma

95
Q

What is the MC form of male pseudohermaphroditism?

A

testicular feminization (androgen insensitivity) which results from a mutation in the androgen receptor gene (x-linked)

96
Q

What has more prognostic value: grade or stage?

A

stage

97
Q

What is the cure for hereditary spherocytosis?

A

splenectomy

98
Q

Islet cell amyloid deposition is characteristic of which disease?

A

DM

99
Q

Define atrophy.

A

decrease in cell size, often from prolonged immobilization

100
Q

A male pseudohermaphrodite has __ present, but external genitalia are __ or __.

A

testes

female, ambiguous

101
Q

Which neural tube defect is involved with herniation of meninges through spinal canal defect?

A

meningocele

102
Q

A female pseudohermaphrodite has __ present, but external genitalia are __ or __.

A

ovaries

virilized, ambiguous

103
Q

The MC pattern in coagulative necrosis is caused by __.

A

ischemia

104
Q

Which type of exudate contains no inflammatory cells?

A

serous exudate

105
Q

Neutrophils are involved in __ inflammation and monocytes are involved in __ inflammation.

A

acute

chronic

106
Q

What is the deficient enzyme and cardinal clinical features in Pompe’s disease?

A

lysosomal alpha-1,4-glucosidase

cardiomegaly, muscle weakness, death within 2 years

107
Q

What is the biochemical consequence of 5-alpha-reducatse deficiency?

A

unable to convert T to DHT

108
Q

What is coagulative necrosis?

A

denaturation of proteins, preservation of cell outline, nuclear dissolution

characteristic of hypoxia

109
Q

Name two instances where red infarct is likely to occur.

A

reperfusion injury

loose tissues with good collaterals (lungs, intestine)

110
Q

The fluid in edema can be classified as exudate or transudate. Which has a higher protein content?

A

exudates

111
Q

An embolus causes a white infarct in the kidney. Where did the embolus most likely come from? Trace its route to the kidney.

A

since renal arteries are branches of the aorta it suggests that the embolus travelled from the left ventricle to the aorta to the renal arteries

112
Q

What are the CV risks in Marfan syndrome?

A

cystic medial necrosis -> aortic incompetence and dissecting aortic aneurysms

113
Q

What is a paradoxical embolus?

A

when an embolus from the venous system enters the arterial system via a patent foramen ovale or septal defect

114
Q

MEN II and MEN III are associated with which oncogenic mutation?

A

ret oncogene

115
Q

What is a good way of remembering McArdle’s and Hers’ disease?

A

McArdles - M - muscle

Hers - H - hepatic

glycogen storage diseases

116
Q

Patient presents with ascites. Analyzed fluid contains 2.4 g of protein in 100 ml sample. Is this fluid considered exudate or transudate?

A

transudate contains low protein concentration (< 3 g / 100 ml)

117
Q

Tumor suppressor gene p53 is located on which chromosome?

A

chromosome 17p

118
Q

Name four characteristics of Turner’s syndrome.

A

short stature, ovarian dysgenesis (streak ovary), webbing of the neck, coarctation of the aorta

119
Q

what is fibrinoid necrosis?

A

tissue death in which there is accumulation of amorphous, basic, proteinaceous material

120
Q

What is the progression in familial adenomatous polyposis if the colon is not resected?

A

colon cancer

121
Q

Which WBCs are seen in chronic inflammation that are not seen in acute inflammation?

A

lymphocytes (B cells, T cells, NK cells)

122
Q

What is a benign tumor of skeletal muscle called?

A

rhabdomyoma

123
Q

To detect amyloid deposition, what stain is used?

A

congo red

124
Q

Name the key diagnostic test for cystic fibrosis.

A

Cl- ions sweat test

125
Q

What is the genetic defect in achondroplasia?

A

autosomal dominant cell signaling defect of fibroblast growth factor (FGF) receptor

126
Q

Staging of a tumor takes into account which three factors?

A

size, node involvement, METS

127
Q

What is the difference between thrombus, embolus, and infarct?

A

thrombus - blood clot occurring in living patient

embolus - detached mass within a blood vessel (most are pieces of thrombi)

infarct - area of tissue death