Lecture 1-4 Flashcards Preview

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Flashcards in Lecture 1-4 Deck (113):
1

Necrosis

non-regulated cell death, affects groups of cells, evoked by non-physiological events (viruses, ischemia, toxins) always followed by ACUTE INFLAMMATION

2

Coagulative Necrosis

-seen in infarcts (EXCEPT BRAIN) -due to loss of blood - tissue is firm and cell outlines are preserve

3

Liquefactive necrosis

-seen in bacterial and fungal infections and brain infarcts from hypoxia -Appearance: liquid, viscous

4

Caseous Necrosis

-

5

Fibrinoid

 

  • seen in inflammation of blood vessels
  • bright pink, amorphous area around vessel

 

6

Gangrene Necrosis

  • occurs when part/entire limb loses blood supply
  • skin is black and dead and decomposing
  • dry gangrene - initial coagulative necrosis
  • wet gangrene - liquefactive necrosis if bacterial infection is superimposed

7

Accumulations: Carbon

8

Accumulations: Lipofuscin

  • brownish-yellowish
  • heart, liver and brain
  • accumulates with age
  • sign of past free radical damage

9

Accumulations: Melanin

  • brown-black
  • protects skin from UV damage

10

Accumulations: Hemosiderin

  • golden yellow to brown
  • accumulates from excess iron
  • hemosiderosis and heriditary hemochromatosis

11

accumulations: calcification

  • accumulation of calcium salts, iron magnesium and other minerals

12

dystrophic calcifications

  • dying or dead cells
  • secondary to injury or necrosis 
  • aging heart valves
  • normal calcium serum levels

13

metastatic calcification

  • normal cells
  • hypercalcemia
    • increase parathyroid hormone
    • increase bone turnover
    • vitamin D related disorders
    • renal failure

14

effusion

  • accumulation of serious fluid in pericardial, pleural or peritoneal cavities

15

Transudate

  • serious fluid ultrafiltrate
  • low protein
  • blisters, serositis

16

Effusion

  • accumulation of serious fluid in pericardial, pleural or peritoneal cavities

17

exudate

  • fibrinous fluid; endothelial gaps in venules allow protein-rich fluid, fibrin, some cells to escape

 

18

Purlent 

  • exudate containing abundant neutrophils
  • bacterial infections
  • abcess - localized collection of purulent inflammatory tissue

19

Extravasation of WBCs (Order)

  1. Margination
  2. Rolling
  3. Adhesion
  4. Transmigration
  5. Migration

20

E-Selectins

selectins in endothelium

21

P-selectins

selectins in edothelium and platelets

22

L-selectins

selectins on leukocytes

23

Leukocyte Adhesion Deficiency

  • defect in biosynthessis of B2 chain shared by LFA-1 and Mac-1
  • repeated bacterial infections; poor healing
  • severe forms need bone marrow transplant

24

Leukocyte adhesion deficiiency 2 

  • absence of sialyl-Lewis X ligand for E and P-selectins
  • lack fucosyl transferase enzyme
  • small stature, cognitive impairment, bacterial infections

25

Endogenous Chemotaxis

  • LTB4
  • IL-8
  • C5a

26

Opsonizers (2)

  • IgG
  • C3b

27

Chronic Granulomatous Disease

  • deficiency of NADPH oxidase

28

Myeloperoxidase deficiency

  • normal - myeloperoxidase H2O2 --> HOCl
  • deficiency results in candida infections

29

Chediak Higashi Syndrome

  • autosomal recessive, trafficking disease
  • defect in cytosolic protein (LYST) reduced transfer of lysosomal enzyme --> phagocytic vacuoles
  • results: susceptability to infection and abnormalities in melanocytes causing albinism, peripheral neuropathy
  • giant granules in leukocyes

30

Platelet activting factor

  • vasoconstriction and bronchoconstriction
  • low concentrations - vasodilation and increased vascular permeability
  • increases wbc adhesion, chemotaxiz, degranulations and oxidative burst

31

Nitric Oxide

  • released from endothelium, macrophages and neutrophils
  • potent vasodilator
  • inhibits wbc recruitment and mast cell induced inflammation

32

TNF 

  • promotes lipid and protein mobilization; suppresses appetite
  • contributes to cachexia - weightloss and anorexia seen with chronic infection and neoplasia

33

IL-1

  • mutations --> inherited autoinflammatory syndromes 
  • familial Mediterranean fever
  • activated by urate crystals in gout

34

IL-17

  • produced by T-lymphocytes to promote neutrophil recruitment

35

anaphylatoxins

  • C3a, C5a - vascular permeability and dilation

36

Hageman Factor XIIa

  • triggers clotting, fibrinolysis, kinin and complement systems
  • kallikrein - autocatalytic activator of hageman factor

37

Thrombin IIa

  • major coagulation protease
  • binds protease-activated receptors (PARs) which trigger various inflammatory responses

38

Kinins

  • vasoactive peptides
  • derived from plasma proteins (kininogens) by action of proteases (kallikreins)

39

bradykinin

  • increases vascular permeability
  • dilates blood vessels
  • pain

40

X-linked G6PD deficiency

  • if certain drugs are taken like primaquine or eat fava beans red blood cells break up in their bloodstream

41

variable penetrance

  • gene doesn't penetrate all the way to the phenotype

42

trinucleotide repeats

  • fragile X
  • huntington's 
  • myotonic dystrophy
  • show anticipation, each successive generation gets worse

43

polymorphisms

  • gene with 2 alleles that occurs in 1% of the population
  • each has modest effect and low penetrance

44

pyloric stenosis

  • hypertrophy of pyloris causes obstruction
  • palpable "olive" mass and projectile vomitting 2-6 weeks old
  • treatment is surgical incision
  • 1/600 live births most often in first born males

45

Cleft Lip

  • multifactorial inheritance

46

Down Dyndrome

  • Trisomy 21 - 3 copies of chromosome 21. disomy (normal) for the rest of the chromosomes
  • 1/700 births
  • epicanthal folds, flat profile, simian creases, abundant nuchal skin, congenital heart,etc
  • early alzheimers if you live long enough
  • VSD

47

Marfan's Syndrome

  • height increased, ectopia lentis, double jointed, arachnodactyly - long fingers
  • aorta ruptures at 30
  • AD
  • fibrillin is the problem - scaffolding for elastin
    • anything with elastin will burst with time

48

Ehlers- Danlos Syndrome

  • collagen is the problem
  • commonly AD 
  • Type 4: the colon blows out at age 16; kneejerk the words, type III procollagen
  • Type 6: commonest, corneas slide off; kneejerk lysyl hydroxylase
  • type 10: copper

49

Familial Hypercholesterolemia

  • defect in receptor for LDL - LDL floats around the bloodstream and accumulates in arteries and coronaries
  • accumulates under skin - lipomas of elbow and eyelids
  • AD

50

Cystic Fibrosis

  • Cl channel mutation  
  • AR
  • every secretion that should be watery is viscous
  • pancreatic secretions - malnutrition and steatorrhea
  • lung secretions - reccurent lung infections
  • meconium plug at birth
  • CFTR- delta F508

51

Tay-Sachs Disease

  • enzyme: hexosaminidase A
  • mentally and physically starts to degenerate around age 1 and death at age 2-3
  • cherry red spots in maculae-normal chorois against a swollen pale, ganglioside-stuffed retina

52

sandhoff disease

  • clinical twin to Tay-Sachs but missing both hexosaminidase A and B

53

Niemann-Pick disease

  • lysosomal storage disease
  • neuron stuffed with sphingomyelin
  • Gene: NPC1, NPC2 and SMPD1 genes
  • enzyme: sphingomyelinase
  • CONCENTRIC LAMELLATED MYELIN BODIES ON EM 

54

Gaucher's disease

  • 3 kinds - all AR 
  • Severe Type II 
    • infantile; bulding abdomen
  • moderate Type III
    • juvenile
  • mild Type I 
    • adult
  • gaucher glucocerebrosides from WBCs/RBCs backing up in lysosomes in spleen cell

55

Mucopolysaccaridoses  - Hunter/Hurler Syndrome

  • gargoyle kids
  • lysosomes lack enzymes needed to degrade mucopolysaccharides
  • Hunters - X
  • hurler's - autosomal recessive

56

Pompes Disease

  • glycogen storage disease - myopathic
  • AR
  • lysosomal glucosidase - acid maltase - can't break glycogen down with lysosomes

57

Cori Disease

  • glycogen storage - myopathic
  • Type III - debranching enzyme

58

McArdle

  • Type V - Muscle glycogen phoshorylase
  • glycogen sotrage myopathic

59

Tarui

  • Type VII glycogen storage disease
  • myopathic
  • muscle phosphofructokinase

60

Von Gierke

  • Type I glycogen storage - hepatopathic
  • glucose 6 phosphatase

61

Andersen

  • Type IV
  • glycogen storage disease hepatopathic
  • branching enzyme

62

Hers disease

  • hepatopathic glycogen storage disease
  • type VI
  • glycogen phosphorylase

63

galactosemia

  • 1/47,000
  • jaundice, cirrhosis of the liver, ascites, cataracts by first month of life (accumulation fo galacticol)
  • missing galactose-1-phosphate uridyltransferase

64

alkaptonuria (ochronosis)

  • AR
  • congenital deficiency of homogentistate oxidase in the degradative pathway of tyrosine to fumarate
  • dark connective tissue, brown pigmented sclerae, urine turns black, may have debilitating arthralgias

65

Neurofibromatosis Type I (Von Recklinghausen's disease)

  • defective gene - 17q11.2
  • cafe au lait spots and cutaneous neurofibromas
  • AD
  • 100% penetrance, variable expression
  • caused by mutation in NF1 gene on chromosome 17

66

Neurofibromatosis Type II

  • 22q12; shwannomas, multiple meningiomas, no lisch nodules
  • bilarteral acoustic schwannomas, juvenile cataracts, meningiomas, and ependyomas
  •  NF2 gene on chromosome 22

67

Edwards Syndrome

  • Trisomy 18 
  • findings: severe intellectual disability, rocker bottom feet, micrognathia (small jaw), low-set ears, clenched hands, prominent occiput, congenital heart disease
  • death by 1 

68

Patau Syndrome

  • trisomy 13
  • findings: severe intellectual disability, rocker bottom feet, micropthalmia, microcephaly, cleft lip/cleft palate. holoprosecephaly, polydactyl, congenital heart disease
  • death within one year

69

DiGeorge Syndrome

  • 22q11
  • defect in T cells
  • Cardiac abnormalities, abnormal facies, thymus aplasia, cleft lip, hypocalcemia
  • 3rd and 4th brachial arches not developed properly

70

XXY

  • Klinefelters
  • extra X influcence on genetic males
  • sweet natured
  • mentally retarded but only slightly
  • slight gynecomastia
  • small testes
  • frequently infertile

71

XYY

  • extra Y influence on genetic males
  • taller than usually, more delinquent, impulsive

72

Gonadal Mosaicism 

  • not all sperm in a testicle or eggs in an ovary or cells in a bastula are the same
  • can be mixed XY/XXY
  • mosaics can happen to any gene but theyre a lot more common in sex chromosomes

73

X0

  • Turner Syndrome
  • short, fat, slightly mentally retarded girl, no secondary sexual development
  • streak ovaries, webbed neck, valgus elbows, coarctation of aorta

74

Testicular Feminization

  • Jamie Curtis body
  • XY but no androgren receptors
  • make normal levels of testerone but don't respond to it
  • don't know until you reach puberty and don't get your mentrual cycle

75

Fragile X

  • Trinucleotide repeats CGG
  • X-linked defect affecting the methylation and expression of the FMR1 gene
  • enlarged testes jaw and ears

76

Huntington's Disease

  • CAG trinucleotide repeat

77

Friedrich's Ataxia

  • GAA trinucleotide repeat
  • 1/50,000 only european descent
  • Chromosome 9, FRDA gene
  • protein named Frataxin 
  • progressive ataxia - first gait then all limbs
  • wheelchair bound by 25
  • death from cardiomyopathy

78

MELAS

  • mitochondrial myopathy
  • present with myopathy, lactic acidosis and CNS disease
  • muscle biopsy often shows ragged red fibers

79

Prader-Willi

  • maternal imprinting: gene from mom is normally silent and PATERNAL gene is deleted/mutated
  • results in hyperphagia, obesity, intellectual disability, hypogonadism and hypotonia

80

Angelman

  • paternal imprinting: gene from dad is normally silent and MATERNAL GENE is deleted/mutated
  • results in inappropiate laughter, seizures, ataxia and sever intellectual disability 

81

Non granulomatous chronic inflammation

  • acute inflammation may become chronic
  • persistent infection, prolonged exposure to toxins, allergic/immune/autoimmune reactions

82

granulomatous chronic inflammation

  • distinct pattern evoked by certain agents or disease states
  • fungal and bacterial infections
  • immune mediated processes
  • foreign bodies
  • unknown etiologies
  • EPITHELIOD HISTOCYTES

83

fibrosis

extensive collagen deposition accompanying chronic inflammation

84

organization (repair)

replacement of inflammation by fibrosis in parenchymal organs

85

Labile

  • continuously proliferating, replace self
  • stratrified tissue of skin, servix, vagina
  • columnar epithelis of GI tract, uterus

 

86

stable proliferative capactiy

  • discontinuous replication; arrest in G0 can replace necrotic tissue
  • normal supporting stroma must remain intact as organizer
  • liver, kidney, pancreatic parenchyma, smooth muscle, edothelium, fibroblasts, chondrocytes

87

Epidermal growth factor and TGF-alpha

  • share common receptor
  • EGF receptor is family of membrane tyrosine kinase receptors
    • ERB B1
    • ERB B2 = Her-2/Neu
  • overexpressed or mutatated in lung and brain cancers
  • produced by keratinocytes and wbcs in response to injury
  • mitogens for epithelial cells, hepatocyes, fibroblasts

88

Hepatocyte Growth Facrtor (HGF)

  • made by fibroblasts, endothelium and liver nonparenchymal cells
  • promotes scattering and migration of cells during development
  • mitogen for epithelial cells fo the liver, lungs, breast, skin
  • receptor c-Met - mutated/overexpressed in renal and thyroid papillary cancers

89

VEGF

  • vascular endothelial growth factors
  • promotes vessel formation early on (vasculogenesis) promotoes new vessel growth (angiogenesis) and lymphatics (lymphangiogenesis)
  • promotes angiogenesis in tumors

90

PDGF

  • platelet derived growth factors
  • synthesiszed in endothelial cells, macrophages and smooth muscle cells but stored in platelet granules
  • funtions: chemotactic for fibroblasts and macrophages; growth factor for fibroblasts and smooth muscle cells, promotes collagen synthesis

91

fibrblast growth factors

  • FGF
  • functions: wound repair/reepithelialization - FGF-7 (keratinocyte growth factor and FGF-2 (basic FGF)
  • angiogenesis - FGF-2
  • chemotactic for fibroblasts, macrophages and endothelial cells
  • hematopoiesis
  • lung, liver, cardiac and skeletal muscle devlopment

92

TGF-B

  • produced by platelets, endothelial cells, macrophages and lymphocytes
  • pleiotropic - multiple, sometimes opposing effects
    • fibrogenic, stimulates proliferation of fibroblasts and smooth muscle cells, growth inhibitor for most epithelial cells and wbcs, anti-inflammatory by inhibiting proliferation of lymphocytes
  • regulation may be useful in neoplastic, immunologic diseases

93

collagen type I, II, III, V

  • fibrillar collagens (interstitial/wound healing)

94

collagen type IV

  • nonfibrillar - basement membrane

95

collagen VII

  • nonfibrillar epidermal/dermal junction

96

Ehlers Danlos Syndrome (Collagen)

  • type 1, III, V

97

Osteogenesis Imperfecta (collagen) 

Type 1

98

Elastin

  • recoil
  • form the central core of elastic fibers
  • in large blood vessels, skin, ligaments, uterus

99

fibrillin

  • form peripheral microfibrillar network of elastic fibers
  • defective in Marfan syndrome

100

Proteoglycans

  • protein core linked to glycosaminoglycans (GAGs) including heparan sulfate, chondroitin/dermatan sulfate
  • assembled in golgi and rouch ER
  • regulate connective tissue structure and permeability; modulate cell growth and differentiation

101

hyaluronan (hyaluronic acid)

  • huge GAG of repeating disaccharides
  • assembled at plasma membrane
  • binds water to form compressible gel
  • in heart valves, skin, cartilage, synovial fluid, vitreous of the eye and umbilical cord
  • conc. increases in rheumatoid arthritis, scleroderma, psoriasis and osteoarthritis

102

fibronectin

  • sticky stuff like glue - acts like a glue that binds fibrin, collagen, cells
  • exists in tissue and plasma forms
    • tissue form- synthesized locally in wound by fibroblasts
    • plasma form - binds fibrin in clot formation
  • receptor is an integrin
  • chemotactic for other cells
  • promotes wound contraction and epithelial migration

103

laminin

  • most abundant glycoprotein in the basement membrane
  • binds cells to ECM

104

cadherins

  • calcium dependent adherence proteins
  • interactions between cells of the same type
  • zonula adhernes - spot like junction near apical surface of cells
  • desmosomes - stronger junctions in epithelial and muscle tissues
  • catenins - like cadherins to cytoskeleton
  • B catenin links cadherins to alpha catenin
  • alpha catenin linked to actin cytoskeleton

105

integrins

  • bind cell-cell or cells to extracellular matrix proteins (fibronectin, laminin)
  • transmit signals from neighboring cells and ECM to nucleus for integration of cell proliferation, differentiation, protein synthesis, attachment, migration
  • intracellular domains link to actin- affect cell shape and motility

106

selectins

WBC/endothelial interaction

107

Dehiscence

  • deficient granulation tissue or scar formation
  • rupture

108

ulceration

  • deficient granulation tissue or scar formation
  • inadequate vascularization

109

hyperstropic scar

  • excessive collage during scar formation

110

keloid

  • scarring beyong boundaries of original wound

111

desmoids

  • excessive proliferation of fibroblasts and connective tissue which may constitute a low-grade malignancy

112

contractures

excessive contraction of wound

113

fibrosis

  • excessive deposition of collagen and other ECM components
  • caused by repeated bouts of acute inflammation, persistence of stimuli for acute inflammation resulting in chronic inflammation and development of immune/autoimmune reactions and radiation