Pathology - Exam 1

Front 1

Define Pathology

Back 1

Study of disease

Functional, structural, biochemical alterations in the body produce disease

Front 2

Define Epidemiology

Back 2

WHO tends to be affected by a disease process

Front 3

Define Homeostasis

Back 3

Ability of body to maintain a condition

Front 4

Define Allostasis

Back 4

"Other", Differing, Varrying = maintain some degree of stability resulting from a change

Front 5

Define Allostatic Overload

Back 5

When continued stress is over-whelming and allostasis can't be upheld

Front 6

T/F: Pathological specimens can tell us information about a period of time within an organism

Back 6

FALSE. Pathological specimens represent a "snap shot" in time of body structure

Front 7

What are the two main divisions of pathology?

Back 7

Anatomic and Clinical

Front 8

List some examples of Anatomic Pathology

Back 8

Surgical Pathology
Cytology
Autopsy/Forensic Pathology

Front 9

List some examples of Clinical Pathology (Laboratory Medicine)

Back 9

Microbiology/Virology
Clinical Chemistry
Blood Bank/Transfusion Medicine/Hematology
HLA

Front 10

What is the central dogma of molecular biology?

Back 10

DNA --> RNA --> Protein

Front 11

Define what is meant by risks in the central dogma of health and disease

Back 11

Risks = Stressors that challenge Homeostasis (for ex. when chemicals in smoke cause cancer, they become etiological)

Front 12

When do we want to intervene with patients?

Back 12

Before risks cause disease, because after that time we have to TREAT disease = we want to stay away from having to treat

Front 13

What are the two big causes of disease and Differential Diagnoses?

Back 13

Nature (Genetics) and Nurture (Environment)

Front 14

What are the categories of disease?

Back 14

VINDICATE

Vascular
Infectious/Inflammatory
Neoplastic (primary/secondary)
Drugs
Idiopathic/Latrogenic (=we don't know)
Congenital/Developmental/ Inherited
Autoimmune/Allergic/ Anatomic
Trauma
Endocrine/Metabolic/Environmental/ Occupational

Front 15

What types of cellular responses to stimuli are Pathologic? What types of cellular responses are physiologic?

Back 15

Pathologic:
Injury
Death (Apoptosis or Necrosis)
Accumulations

Physiologic:
Adaptations

Front 16

Detail the events if a cell is exposed to a stressor for a prolonged period of time

Back 16

Cell exposed to stressor

Cell Adapts to respond to stressor

Cell structure and function are altered

Cell Injury and ultimately cell death may occur

Front 17

What are the 4 major types of Adaptations cells undergo?

Back 17

"HHAM"

Hyperplasia (Inc. Cell Number)
Hypertrophy (Inc. Size of Cell...think of a "big" Trophy)
Atrophy (Dec. Size of cell)
Metaplasia (change from one mature cell type to another...think "meta"morphosis)

Front 18

What is the goal of cellular adaptation?

Back 18

to adjust to new conditions/demands

Reflects dynamic ability of cells to alter their cell cycle activity

Front 19

Define Hyperplasia

Back 19

Inc. Number of Cells

Requires DNA synthesis and cell division

Front 20

Why might Hyperplasia occur Physiologically (i.e. normally)?

Back 20

Hormonal = If we need more hormones

Compensatory = we need to regain some functional capacity after losing some cells

Front 21

Why might Hyperplasia occur Pathologically?

Back 21

Cells might proliferate for protection...

For Ex., Epithelial Hyperplasia might occur to thicken epidermis to protect us

Front 22

Give some examples of Physiological Hyperplasia and Pathological Hyperplasia

Back 22

Physiological = partial liver removal = remaining liver undergoes hyperplasia growth
Endometrial thickness bc of estrogenic stimulation (proliferative phase)

Pathologic = Endometrial Hyperplasia (i.e. Endometriosis!)
Psoriasis or Lichen Simplex = epidermal hyperplasia

Front 23

Define Hypertrophy

Back 23

Increase in the size of an organ because the cells increase in size (bc of increased protein synthesis)

Front 24

T/F: Hypertrophy generally occurs in cells that would not typically divide

Back 24

TRUE (muscle cells, cardiac cells)

Front 25

What happens when the heart undergoes cardiac hypertrophy?

Back 25

Cells in heart inc. in size = Left Ventricle Thickens = it can't hold as much blood = Decreased volume capacity of Left Ventricle = we'll need to inc. Heart Rate to compensate

Front 26

Define Atrophy

Back 26

A decrease in cell size because of a loss of cellular substance

Occurs because the cellular environment can't support the cell's current size, so it shrinks (This is what occurred in the movie "Honey, I Shrunk the Kids")

Decreased cell size = decreased function

Front 27

What are the causes of atrophy?

Back 27

"DDRIP"

Decreased workload (disuse)
Denervation (loss of nerve supply)
Reduced endocrine stimulation
Ischemia
Poor Nutrition

Front 28

Define Metaplasia

Back 28

Change of cell from one mature type to another

For example: squamous epi --> Columnar epi

Front 29

What is thought to cause Metaplasia?

Back 29

Reprogramming of gene expression of stem cells in tissue

Generally is protective to noxious stimuli (change from susceptible cell type to more resistant/protective cell type)

Front 30

T/F: Typically, Metaplasia is Irreversible

Back 30

FALSE.

Metaplasia is typically REVERSIBLE

Front 31

Define Dysplasia

Back 31

If injurious stimulus continues to affect cell, progressive changes may result in dysplasia = one step before cell becomes neoplastic and pre-cancerous

Front 32

List the 7 causes of cell Injury

Back 32

"PIINCH - G"

Physical Agents (mechanical agents like temp. change)
Infectious Agents
Immunologic Reactions
Nutritional Imbalance
Chemicals/Drugs
Hypoxia (= diminished O2 delivery vs. Ischemia = Impaired blood flow)

Genetic Mutations

Front 33

What are the underlying mechanisms of cell injury?

Back 33

Ox. Phos. (dec. ATP)
Ca2+ Homeostasis
ROS (Reactive Oxygen Species)
Cell Membranes (inability to maintain membrane integrity)

Front 34

What are the consequences of Ox. Phos. Disruption?

Back 34

For ex. Ox. Phos. disruption may occur because of ischemia.

dec. Ox. Phos. = Mito less effective = Dec. ATP = many, many cellular processes affected

Front 35

What are some of the pathological effects of ROS build up?

Back 35

ROS react with:
1. FAs --> disruption of plasma membrane
2. Proteins --> Loss of activity, abnormal folding
3. DNA --> mutations, breaks

Front 36

List some of the Antioxidant mechanisms that contribute to removal of free radicals

Back 36

1. SOD (O2--> H2O2)
2. Glutathione (OH--> H2O and O2)
3. Catalase (H2O2 --> H2O and O2)

Front 37

T/F: The severity and duration of causes of cell injury determine reversibility of cell damage

Back 37

TRUE

Front 38

T/F: most cells are already dead by the time we see the effects of the cell death

Back 38

TRUE

Front 39

T/F: Cell damage is reversible along a period of time as stressor continues

Back 39

FALSE. Cell damage is reversible up to a specific point as stressor continues, but beyond that point cell damage is irreversible

Front 40

What are some examples of reversible cell injury?

Back 40

Cell swelling
Fatty change (accumulation of lipid vacuoles)

Front 41

Irreversible cell injury leads to what?

Back 41

Cell Death

Front 42

Whats the difference between necrosis and apoptosis?

Back 42

Necrosis = ONLY PATHOLOGIC. membrane becomes leaky = leakage of cellular proteins and constituents = can further damage neighboring cells.

Apoptosis = CAN BE PHYSIOLOGIC = NORMAL. programmed cell death. Cellular fragmentation occurs

Front 43

How can Reperfusion injury cause cell death?

Back 43

Generating ROS
Inflammatory Mechanisms

Front 44

How will DNA damage between apoptosis and necrosis look different on a DNA gel?

Back 44

Apoptosis = cellular fragmentation = DNA in-tact, just in different size = gel will look like a ladder

Necrosis = DNA gel will show a continuous smear of DNA b/c DNA fragments are not distinct sizes.

Front 45

T/F: Nuclear chromatin condensation occurs in both apoptosis and necrosis

Back 45

TRUE

Front 46

T/F: Nuclei Shrink, fragment, and dissolve in apoptosis and necrosis

Back 46

FALSE.

DNA shrink and fragment in both, but its only in necrosis that DNA dissolve

Front 47

T/F: Membrane integrity is upheld in apoptosis

Back 47

TRUE

Membrane-bound cell fragments "bleb" off

Front 48

Which involves a larger area of tissue, apoptosis or necrosis?

Back 48

necrosis

Apoptosis involves isolated cells or small groups of cells

Front 49

Which involves an inflammatory response, necrosis or apoptosis?

Back 49

necrosis

Apoptosis does not involve an inflammatory response (makes sense, since it occurs naturally = programmed cell death)

Front 50

What are the 4 types of necrosis?

Back 50

Coagulative
Caseous
Liquefactive
Fat Necrosis

Front 51

Define Coagulative necrosis

Back 51

Denaturation of cytosolic proteins

Basic cell outline preserved = OVERALL ARCHITECTURE MAINTAINED

Shrunken, increased eosinophilia (dec. pH)

Pyknosis (nuclear shrinkage/darkening)
Karyolysis (nuclear dissolution)
Karyorrhexsis (fragmentation of nucleus)
Nuclei dissapear within a few days

Front 52

Define Liquefactive Necrosis

Back 52

Complete enzymatic digestion of dead cells

ex. = bacterial and fungal infections

Pus. ew.

Tissue Architecture LOST (no cell outlines when looking at in under microscope)

Front 53

Define Caseous Necrosis

Back 53

Cheesy, white/yellow crumbly (friable) material produced

No Tissue Architecture

Surrounded by "granulomatous" inflammation

Seen in tuberculosis

Front 54

What types of necrosis preserve cell architecture? (Coagulative, Caseous, Liquefactive, Fat Necrosis?)

Back 54

Coagulative

Front 55

Define Fat Necrosis

Back 55

Destruction of Adipocytes in fat tissue

Large scale destruction can lead to soponification = where soap is created = deposition of calcium salts in tissue (as fat cells die, they release Ca2+)

Front 56

Whats the difference between "dry" and "wet" Gangrenous Necrosis

Back 56

Dry = Coagulative necrosis secondary to profound ischemia

Wet = Liquefactive necrosis from inflammatory necrosis superimposed on ischemic necrosis (secondary to bacterial infection at site of ischemic damage)

Front 57

List some Physiological examples of Apoptosis in the body

Back 57

Involution of structures during development

Elimination of immune cells

Involution following hormonal withdrawal (ex. = menstruation)

Cytotoxic T cell mediated elimination of infected cells or neoplastic cells

Front 58

List some Pathological examples of Apoptosis in the body

Back 58

"Insults" i.e. radiation, drugs, DNA damage

Viral Infections

Autoimmunity

Neoplastic cells

Front 59

Where do both the intrinsic and extrinsic stimulus pathways lead in apoptosis?

Back 59

They lead to the common execution pathway, via Caspase Enzyme Cascade

Front 60

What are the two ways Apoptosis can occur, and list some examples

Back 60

Intrinsic = radiation, toxins, ROS free radicals, withdrawal of growth factors

Extrinsic = Death receptors: Fas (CD95), FasL (Fas Ligand CD95L) TNFR1 and TNF, Cytotoxic T-cell-mediated = Granzyme B

Note: Pretty sure this slide is backwards in terms of intrisic and extrisic.

Front 61

What are some examples of Pro-Apoptotic Bcl Family mediators?

Back 61

Pro-Apoptotic - Kill Cell

Bax (think of Katie Goodin's Dog, Bax, who killed rabbits for fun, bastard)

Bak

Front 62

What are some examples of Anti-Apoptotic Bcl Family mediators?

Back 62

Anti-Apoptotic = Cell Lives

bcl-2

bcl-x

Front 63

What does P53 do?

Back 63

Its a tumor suppressor gene; part of the INTRINSIC Apoptosis pathway

Arrests cell in G1 to repair DNA

If unsuccessful repair - apoptosis

Front 64

How do you alter the Bcl family of proteins to FAVOR Apoptosis?

Back 64

Favor Apoptosis = Inc. Pro-Apoptotics =

Inc. Bax and Bcl
Dec. bcl-2 and bcl-x

Front 65

How do all stimulus pathways get cells to die via apoptosis?

Back 65

Caspases (enzyme cascade)

Disruption of the balance of pro-apoptosis and anti-apoptosis can lead to disease

Front 66

Too Little Apoptotic activity can lead to what?

Back 66

Cancers
Autoimmunity

Front 67

Too Much Apoptotic activity can lead to what?

Back 67

Neurodegenerative disorders (for ex. Parkinson's)

Ischemic Injury

Death of virally infected cells

Front 68

T/F: Accumulations can be Intracellular or Extracellular

Back 68

TRUE

Front 69

What are accumulations a manifestation of?

Back 69

metabolic derangement

Front 70

What are some of the normal Accumulations in cells?

Back 70

Fatty Acids (Abnormal = steatosis = fatty liver from alcohol toxicity)

Cholesterol (atherosclerosis, xanthomas)

Front 71

Is Steatosis (=fatty liver) reversible?

Back 71

Yes

Front 72

What are Xanthelasmas?

Back 72

Lipid-laden macrophages

50% associated with hypercholesterolemia

Front 73

List some other accumulations

Back 73

Proteins
Glycogen
Pigments (Exogenous ex. = carbon dust, coal, smog)

Endogenous ex. = Melanin, Lipofuscin (wear/tear pigment that does NOT stain with iron), Hemosiderin (Hemolytic break down product)

Front 74

What is Lipofuscin?

Back 74

A "wear and tear" pigment that accumulates intracellular

Not Pathological

Front 75

What is Hemosiderin Pigment?

Back 75

Iron-containing pigment that is a breakdown product of Hb

We can see it via microscope with iron stain

Front 76

What are some Pathological Calcifications?

Back 76

Dystrophic Calcification

Metastatic Calcification

Front 77

Define Dystrophic Calcification

Back 77

Ca2+ deposited abnormally in tissues (normal systemic Ca2+ levels)

Associated with dying or degenerating cells

Ex. = calcific atherosclerosis and valvular disease (aortic stenosis bc of lots of cell death in that area = stimulus for dystrophic calcification), fat necrosis, certain neoplasms (Psammoma body)

Front 78

What are some causes of Metastatic Calcification?

Back 78

Inc. PTH (for various reasons) = Hypercalcemia = inc. serum Ca2+

Bone destruction (bc of tumors, other reasons) = inc. Ca2+

Too Much Vitamin D

Front 79

T/F: Metastatic calcification may occur widely throughout the body

Back 79

TRUE

Typically involves Gastric Mucosa, Kidneys, Lungs, Blood Vessels

Front 80

Another name for cellular aging is?

Back 80

Cellular Senescence

Front 81

Whats the concept of replicative senescence?

Back 81

cells have a limited ability to replicate (telomeres etc.)

Front 82

T/F: As cells age, there is declining function of the proteosome

Back 82

TRUE

= cellular machinery that eliminates unwanted or abnormal proteins within the cell

Front 83

What are some Initiators of inflammation?

Back 83

1. Infections
2. Trauma
3. Physical or Chemical Agents
4. Tissue Necrosis
5. Foreign Bodies
6. Hypersensitivity Immune Reactions

Front 84

What are the cardinal features of inflammation?

Back 84

heat, redness, swelling, pain

Front 85

What are the general responses to Inflammation?

Back 85

Vascular
Activation of Chemical Mediators
Migration and Activation of Cells (WBCs)
Termination/Resolution

Front 86

How does acute inflammation differ from chronic inflammation?

Back 86

Acute = Immediate, Rapid onset, short, sequential, innate immunity, neutrophils predominate

Chronic = Slower response/onset, cell mediated, lymphocytes/plasma cells/macrophages predominate, tissue destruction with granulation tissue and fibrosis

Front 87

What are the Components of Inflammation?

Back 87

1. Vasculature (Fluid, Chemical, Cells)
2. Connective Tissue (Matrix, Cells)
3. Parenchyma = the cell type that performs the major function in that tissue

Front 88

When you alter the hemodynamics of a tissue, what is occurring?

Back 88

Vasoconstriction and Vasodilation (redness/heat)

Front 89

What is the net effect of vasodilation?

Back 89

Increased Hydrostatic Pressure

Increased Interstitial Fluid (edema)

Front 90

Contraction of endothelial cells leads to:
A. Decreased vascular permeability
B. Increased vascular permeability

Back 90

Contraction of endothelial cells --> Increased Vascular Permeability --> Increased Interstitial fluid and cells that exit vessels (extravasation)

Front 91

Define Transudate

Back 91

Fluid leaking out of vessels due to increased venous pressure

Front 92

Define Exudate

Back 92

Increased vascular permeability due to forces that push fluid across endothelial barrier. Will contain a high protein concentration relative to transudate

Front 93

T/F: A Transudate condition means increased Hydrostatic Pressure and Decreased Colloid Osmotic Pressure

Back 93

TRUE

Transudate = extravascular fluid with LOW protein content (FLUID escapes vessel)

vs. Exudate = extravascular fluid with HIGH protein content (fluid AND protein escape vessel)

Front 94

How do hydrostatic pressure and colloid osmotic pressure change in an exudate condition?

Back 94

Decreased

Front 95

What two things occur during the Exudate process to allow inflammation to occur?

Back 95

Vasodilation and Stasis

Increased Interendothelial Spaces (=allows the fluid and protein to leak out)

Front 96

T/F: The Transudate condition is synonymous with a non-inflammatory state

Back 96

TRUE

Front 97

Transudate and Exudate are associated with what vascular states?

Back 97

Transudate = Non-inflammatory

Exudate = Inflammatory

Front 98

Which is associated with a higher protein content, and thus a higher specific gravity, transudate or exudate?

Back 98

Exudate

Front 99

Define Effusion

Back 99

Excess fluid in body cavities

(ex. = peritoneal, pericardial, pleural)

Front 100

Define Serous

Back 100

Yellow, Straw-like color, few cells

Front 101

Define Serosanguinous

Back 101

RBC's (red tinge)

Front 102

Define Fibrinous

Back 102

Large amounts of fibrin due to activation of coagulation cascade

Front 103

Define Purulent

Back 103

Large numbers of PMNs = white blood cells (neutrophils)

Front 104

What are the origins of Endogenous Chemicals that activate and amplify the process of inflammation?

Back 104

Plasma-derived

Cell-derived

ECM (extracellular Matrix)

Front 105

Histamine, a principle chemical mediator of inflammation, is derived from what cells?

Back 105

Mast cells, basophils, Platelets

Front 106

Serotonin, a principle chemical mediator of inflammation, is derived from what cells?

Back 106

Platelets

Front 107

What are the newly synthesized mediators of inflammation in a cell undergoing inflammation?

Back 107

Prostaglandins
Leukotrienes
Platelet-activating factor
ROS
Nitric Oxide
Cytokines
Neuropeptides

Front 108

What products, newly synthesized during the inflammation process, are common targets for drugs?

Back 108

Prostaglandins and Leukotrienes

Front 109

Why does the body circulate inflammatory factors in their inactive form vs. their active form?

Back 109

So we don't have inflammation all the time

Front 110

What factors are activated from compliment activation that participate in the inflammatory process?

Back 110

C3a, C5a, C3b, C5b-9 (membrane attack complex MAC)

Front 111

What does Factor XII (12) activate?

Back 111

Kinin System (Bradykinin)

Coagulation/ Fibrinolysis system (=breaks down fibirn clot)

Front 112

T/F: The Compliment System involves 20-30 dif. proteins and 2 or 3 pathways.

Back 112

TRUE

Classical - Ab-Ag Complexes
Alternative - Triggered by complex molecules = bacterial lipopolysacchardies (LPS)

Front 113

What proteins involved in the complement system circulate in the blood in their inactive forms?

Back 113

C1-C9

Front 114

What are the functions of the complement system?

Back 114

1. Phagocytosis/ Destruction
-Opsonization
-MAC
2. Vascular Inflammatory effects
-Anaphylaxis= inc. vascular permeability = vasodilation
3. Cellular Inflammatory Effects
-WBC Adhesion, activation, chemotaxis

Front 115

Describe the Complement System

Back 115

Front 116

What are the Chemical mediators of Inflammation derived from plasma? (Hageman factor initiates what?)

Back 116

Coagulation and Kinin Systems
Hageman Factor (Factor XII = 12) Initiates: "KCCF"
Kinin System
Coagulation
Complement System
Fibrinolytic System

Front 117

What is the Kinin Cascade?

Back 117

Bradykinin --> Increased Vascular Permeability --> Arteriolar Dilation --> Bronchial Sm. M. Contraction (it also causes pain when injected into skin)

Front 118

What are the cell-derived chemical mediators of inflammation?

Back 118

1. Vasoactive Amines
2. Arachidonic Acid (AA) Metabolites (from phospholipids)
3. Platelet-Activating Factor (PAF) (from phospholipids)
4. Cytokines
5. Chemokines
6. Nitric Oxide (NO = Vasodilation)
7. Lysosomal Molecules
-Acid and neutral proteases (=degrade cellular and ECM proteins)
8. Inferon (INF)
9.ROS
10. Neuropeptides (substance P = pain)

Front 119

What are AA Metabolites derived from?

Back 119

Phospholipids via Phospholipases

Steroids inhibit Phospholipases = thus inhibiting AA Metabolites

Front 120

What is the function of the Lysosomal cell-derived chemical mediator of inflammation alpha-1-antitrypsin?

Back 120

Inhibits PMN Elastase

Emphysema = Imbalance between protease and antiprotease results in alveolar wall destruction (=adjacent air spaces fuse together = very inefficient gas exchange = hyper-inflation of lungs)

Front 121

Review the table of cell mediators of inflammation

Back 121

Front 122

What are the Acute cells of inflammation?

Back 122

Neutrophils (=PMNs)
Eosinophils
Mast Cells

Front 123

What are the chronic cells of inflammation?

Back 123

Lymphocytes
Macrophages
Plasma Cells
Eosinophils (Mast cells)
Fibroblasts (prominet fibrosis)

Front 124

T/F: Basophils can become Mast cells

Back 124

TRUE

Front 125

T/F: Monocytes can become macrophages?

Back 125

TRUE

Front 126

T/F: Lymphocytes can become Plasma cells

Back 126

TRUE

Front 127

What are the 3 outcomes of the inflammatory process?

Back 127

1. Resolution
2. Healing by Fibrosis
3. Ongoing Chronic Inflammation

Front 128

Gastric Ulcers result from chronic Acute Inflammation thanks to what bacteria?

Back 128

Gastric Ulcers - Result from Chronic Acute inflammation process in stomach from H. pylori

Front 129

What are the causes of Chronic Inflammation?

Back 129

1. Persistent Infection or injurious stimulus
2. Prolonged exposure to injurious stimulus
-can be Endogenous or Exogenous
3. Autoimmunity
ex. = rheumatoid arthritis

Front 130

Describe the process of chronic inflammation

Back 130

1. Tissue infiltration by mononuclear cells (macrophages, lymphocytes, plasma cells, Histocytes are long-standing resident in tissues
2. Tissue Destruction
3. Tissue Repair
-Angiogenesis
Fibrosis

Typically results in Loss of Function

Front 131

Describe the wide variety of tasks that macrophages do in terms of 1. Inflammation and Tissue Injury and 2. Repair

Back 131

1. Inflammation and Tissue Injury = ROS and Nitrogen species
Proteases
Cytokines (including Chemokines)
Coagulation Factors
AA Metabolites

2. Repair
Growth Factors
Fibrogenic Cytokines
Angiogenic Factors
Remodeling (i.e. using collagen)

Front 132

Define Granulomatous Inflammation

Back 132

A distinct pattern of chronic inflammation

Aggregates of activated macrophages assume epitheliod appearance (ie it looks like an epithelium cell)

Some of the tissue coaleces to form a syncytium = multi-nucleated giant cell

Front 133

If Necrosis is present, what do we call granulomatous inflammation? If no necrosis is present, what do we call granulomatous inflammation?

Back 133

Necrosis = caseating granuloma

NO Necrosis = Non-Caseating granuloma

Front 134

What are granulomas and what they do?

Back 134

Granuloma = Mass of inflammatory cells

"Wall-off" offending agents (to contain them)

Front 135

What are some systemic effects of inflammation?

Back 135

Fever
Elevated Plasma Acute Phase Reactants (for ex. C-reactive protein = CRP, Fibrinogen
Leukocytosis (elevated circulating WBCs, such as PMNs = neutrophils and Lymphs)

Front 136

Describe the phenomenon of RBC Rouleaux and ESR

Back 136

RBCs overall negative charge = they repel each other = they don't clump together.

Infection = Acute Phase Proteins = As their neg. charge decreases, the RBCs can start coming together

Inc. Sed. Rate = Inc. Inflammatory Process

Front 137

Describe the difference between renewal and Repair

Back 137

Renewal = Normal Physiological process

Repair = When there's damage = Regeneration = a parenchymal component

Front 138

Renewal and Repair begin with cell loss/injury- what are the responses to this?

Back 138

Cell migration
Cell proliferation
Deposition/Reorganization/Remodeling of extracellular matix components

Front 139

Give some examples of natural cell loss

Back 139

Sloughed epithelia (skin, mucosa)

Balance of proliferation and apoptosis

Mechanical Loss

Front 140

Give some examples of Pathologic cell loss

Back 140

Injury/Inflammation destruction

Loss of Parenchymal cells

Loss of stromal cells (i.e. mesenchymal, fibroblasts, etc.) that support function

Front 141

What function of natural cell loss maintains function?

Back 141

Renewal

Front 142

Are Regeneration and Fibrosis components of Renewal or Repair?

Back 142

Repair

Front 143

What are some processes involved in the repair of cells?

Back 143

Regeneration of Cells

Healing - scar

Front 144

Whats involved in the maintenance of parenchymal cell function?

Back 144

balance of proliferative activity where cells become mature and enter into specific roles.

Cells not needed = Apoptosis

Front 145

What regenerates cells in skin (hair + sweat glands), intestine, liver and corneal epithelium?

Back 145

stem cells

Front 146

In the liver, injury to ONLY hepatocytes is repaired how?

Injury to hepatocytes AND Matrix is repaired how?

Back 146

If ONLY Hepatocytes, repair = Regeneration

If Hepatocytes AND MATRIX = Laying down of fibrous tissue

Front 147

What types of fibers provide a scafolding in the liver for RBCs to percolate through and hepatocytes to attach to?

Back 147

Reticular

Front 148

Detail the process of repair in the liver if A. Only hepatocytes damaged B. Hepatocytes (parenchymal cells) and Scaffolding damaged

Back 148

If only hepatocytes damaged, stem cells differentiate into hepatocytes

If Hepatocytes and scafolding damaged, stem cells don't have anything to attach to, so they form a regenerative nodule = there is a scar

Front 149

List the Cellular components of repair

Back 149

1. Inflammatory Cells
2. Parenchymal Cells
3. Fibroblasts and other Stromal Cells --> Repair Tissue (structural integrity)
4. Endothelial Cells = Angiogenesis

Front 150

What are the two types of Fibrous Structural Proteins involved in the ECM?

Back 150

Collagen
-Fibrillar: I (strong, late wound) II (Cartilage) III (early wound; hollow structures, V, IX
-NonFibrillar = IV (basement membranes)

Elastins
-Adhesion Proteins (CAM, Cadherins, Integrins)
-Proteoglycans and Hyaluronic Acid

Front 151

Collagen, a fibrous structural protein, is made up of what types?

Back 151

Fibrillar:
I = Strong, late wound
II = Cartilage (no wound-healing participation)
III = Early wound, Loose CT = flexibility
IV = Basement Membrane

Front 152

What is the role of p53?

Back 152

Cell cycle regulation

Tumor Supressor = prevents genome mutation

Can hold cell cycle at G1/S

Can initiate Apoptosis

Front 153

In the healing of a wound, granulation tissue is eventually replaced by what tissue type?

Back 153

collagen type I (=strong, late wound)

Front 154

T/F: Superficial injury to the skin involves a lot of granulation tissue formation

Back 154

FALSE. It involves minimal granulation tissue formation...primary goal = re-epithelialization

Front 155

What is the overall goal of Healing and Fibrosis?

Back 155

To maintain hemostasis = keep blood in blood vessels

Front 156

List the steps in Healing and Fibrosis of wounds

Back 156

Maintain Hemostasis
Inflammatory Response
Proliferation and migration of Parenchyma
Angiogenesis
Synthesis and Deposition of ECM
Tissue Remodeling
Wound Contraction
Acquisition of Wound Strength

Front 157

List the sequence of events in the wound healing process

Back 157

1. Hemostasis
2. Inflammation
3. Provisional Matrix
4. Granulation Tissue
5. Fibroblast Proliferation and Collagen deposition/remodeling (=get rid of collagen III, replace with collagen I)
6. Re-epithelialization
7. Wound contraction
8. Inc. in wound strength

Front 158

What are the three overall phases of wound healing?

Back 158

Inflammation

Proliferation

Maturation

Front 159

Clot formation and chemotaxis occur in what stage of wound healing?

Back 159

Inflammation

Front 160

Granulation tissue involves lots of what type of collagen?

Back 160

Collagen type I

Front 161

Scar tissue involves lots of what type of collagen?

Back 161

Collagen Type III

Front 162

What are some conditions that can affect the repair of wounds during the healing process?

Back 162

Location (ie ability of wound to contract less on scalp)

Amount and nature of ECM at Site of injury (older people have less collagen/ elastin)

Blood Supply (dec. blood supply = dec. healing capacity)

Front 163

What are the local factors that can affect wound healing?

Back 163

Infection
Mechanical Forces
Foreign Bodies
Size, Location, Type of Wound

Front 164

What are some Systemic factors that affect wound healing?

Back 164

Nutritional status
Metabolic status
Circulation
Hormones

Front 165

What factors lead to cirrhosis of the liver?

Back 165

Fibrosis with continued parenchymal and ECM damage

Front 166

What are the key differences between primary skin wound healing and secondary skin wound healing?

Back 166

Primary = neutrophils, clot, mitosis, macrophage, fibroblast, fibrous union

Secondary = Neutrophils, MANY new capillaries, wound contraction

Front 167

Whats the consequence of chronic hepatic injury?

Back 167

Formation of regenerative nodules separated by fibrous bands

Front 168

If the kidney is damaged, and injury does NOT significantly damage the ECM framework, what can we expect from the renal tubular epithelium? What if there is damage to the ECM framework?

Back 168

epithelium will recover

Damage to ECM framework = scarring = we lose function

Front 169

T/F: Metaplastic processes are reversible

Back 169

TRUE, as long as the stimulus is removed.

Front 170

If the underlying stroma of the lung is damaged, what happens to the tissue?

Back 170

Fibrosis = impairs gas exchange

Front 171

Loss of cardiac myocytes results in what?

Back 171

Fibrosis

Front 172

Diffuse loss of cells in the heart leads to what?

Back 172

Myocardial Infarction, following Coagulative Necrosis

Front 173

T/F: The heart can only replace damaged/lost cells with a scar

Back 173

TRUE

Front 174

In Lung, what are our two options in terms of repair?

Back 174

If damage limited to pneumocytes, that's OK bc they'll divide/replicate

I damage to Alveolar epi AND scaffold/matrix = thickened fibrosis - inefficient respiration

Front 175

T/F: Axons in PNS can elongate/grow and remake synapses, while CNS axons cannot

Back 175

TRUE

Front 176

How is scarring accomplished by neurons?

Back 176

PNS = Fibrosis
CNS = Glial cell proliferation

Front 177

What are some problems with excessive wound healing?

Back 177

1. Excessive scar formation

2. Keloid

3. Excessive Contraction = Contracture (palms, soles)

Front 178

What is a Keloid?

Back 178

Over-deposition of collagen within dermis = the keloid extends beyond the anatomic confines of normal structure

Front 179

What type of excessive wound healing problem is common when someone is burned?

Back 179

excessive contraction = Contracture = deformity of wounded tissue and surrounding structures

For ex., when people burn their hands, excessive contracture can make them have to hold their hands inwards, with wrist bent in.

Front 180

What are some examples of Excessive Regeneration/Repair that can occur during wound healing?

Back 180

Excessive Granulation tissue formation
-Pyogenic Granuloma
-Proud Flesh

Excessive Fibrosis after injury
-Desmoids

Front 181

What force within blood vessels allows the vessel to hold onto or maintain fluid?

Back 181

Plasma colloid osmotic pressure

Front 182

What force within blood vessels allows the vessel to lose blood?

Back 182

Hydrostatic Pressure

Front 183

The primary insult in a hemodynamic disorder has to do with what factors?

Back 183

Tissue injury and too much bleeding (or too much clotting)

Front 184

A secondary insult in a hemodynamic disorder has to do with what?

Back 184

secondary hemodynamic disorder = something in body is affecting blood vessels

examples = congestive heart failure, shock, liver disease (chronic alcohol abuse)

Front 185

What is Edema?

Back 185

excessive fluid accumulation in spaces outside blood vessels.

Know some causes of edema

Front 186

What are 3 major causes of systemic edema?

Back 186

Heart Failure

Mal-Nutrition (remember mal-nourished kids in DR with edema...)

Anything leading to decreased Synth. of albumin by liver, i.e. nephrotic syndrome = lose a lot of protein in urine

Front 187

How does decreased plasma albumin lead to edema?

Back 187

Dec. plasma albumin = Dec. Oncotic Pressure = Edema

OR Inc. Hydrostatic pressure = Edema (directly) (for. ex. Inc. Na+)

Heart Failure = Inc. Capillary Hydrostatic Pressure = Dec. Blood flow (Inc. blood vol.) = Edema

Front 188

Whats the difference between dependent edema and pulmonary edema?

Back 188

Dependent edema = gravitational influences on interstitial edema (RV failure predominates)

Pulmonary Edema = Congestion (LV failure predominates)

Front 189

Whats the difference between Generalized edema and Cerebral Edema?

Back 189

Generalized = renal dysfunction, nephrotic syndrome

Cerebral Edema = Localized; infection neoplasm, stroke
-Vasogenic = vessel damage
-Cytotoxic = Intracellular
-Interstitial = Extracellular

Front 190

Whats the difference between Hyperemia and Congestion?

Back 190

Hyperemia = Active, Blood flow INTO tissue

Congestion = Passive, Blood flow OUT of tissue

Front 191

Define Hyperemia

Back 191

Active increase of blood INTO a tissue

Front 192

Define Congestion

Back 192

Passive, impaired out-flow of blood OUT of a tissue (cOngestion - Out)

Front 193

What are the 4 types of Hemorrhage?

Back 193

"HEPP"

Hematoma = large collection of blood in tissue
Ecchymosis = Bruises
Petechiae = Pinpoint hemorrhages
Purpura = Red/purple skin discoloration

Front 194

Between a Petechiae hemorrhage and a Hematoma Hemorrhage, which causes the least amount of vessel damage?

Back 194

Petechiae (bc its pinpoint hemorrhages instead of a massive large hemorrhage)

Front 195

Is hemostasis a pathological or physiological process?

Back 195

Physiological

Front 196

Are thrombosis and bleeding pathological or physiological processes?

Back 196

Pathological

Front 197

What are the steps of hemostasis when a injury to the skin occurs?

Back 197

1. Vasoconstriction
2. Primary Hemostasis = platelet plug (subendothelial ECM, vW Factor)
3. Secondary Hemostasis
4. Localized Thrombus Formation

Front 198

T/F: At the same time coagulation is going on, anti-coagulation is going on to keep coagulation localized

Back 198

TRUE

Front 199

What happens to the clotting process if we don't have von Willebrand Factor (Factor XII, 12)?

Back 199

Adhesion is negatively affected = cells don't adhere = no clotting

Front 200

What are some Pro-Thrombotic vs. Anti-Thrombotic Factors?

Back 200

Pro = platelets, Coagulation, Anti-fifrinolytic (=eats frinolytic=more fibrin= pro-clotting)

Anti = Intact Endothelium, Anti-Caogulation, TFP1, Fibrinolytic

Front 201

What does Protein C do in the process of inhibiting thrombosis?

Back 201

Proeolysis of factors 5a (Va) and 8a (VIIIa)

Requires Protein S

Front 202

What does a deficiency of Protein C or Protein S mean in terms of clotting?

Back 202

Dec. Protein C or Protein S = Over-Clotting

Front 203

Coagulation requires what two substrates to make the assembly substrate?

Back 203

Calcium and Phospholipid

Front 204

How do we test for the presence or absence (or just general amount) of clotting factors in the blood?

Back 204

Give a Ca2+ kelator = Ca2+ removed = Blood inhibited from clotting = we can test presence of clotting factors that are free flowing in blood

Front 205

What are 3 "natural" anticoagulants?

Back 205

Anti-thrombins
Protein C and Protein S
TFPI

Front 206

T/F: The Extrinsic and Intrinsic pathways lead to the common pathway in the coagulation cascade

Back 206

Yep.

Front 207

The Intrinsic pathway of coagulation is made up of what types of factors? (contact or tissue?)

Back 207

Contact factors

Front 208

The Extrinsic pathway of coagulation is made up of what types of factors? (contact or tissue?)

Back 208

Tissue Factors

Front 209

The bulk of lab testing of the Coagulation Cascade is performed in:
A. Primary Hemostasis
B. Secondary Hemostasis
C. Fibrinolysis

Back 209

B, Secondary Hemostasis

-Pro-thrombin Time (PT), aPTT (activated partial thromboplastin time), TT (Thrombin Time

Front 210

Whats the path of Fibrinolysis?

Back 210

Plasminogen --> Plasmin --> cleaves Fibrin --> which leads to Fibrinolysis (one FSP = D-Dimer)

Front 211

D-Dimer measurement in the lab is important in to tell us what?

Back 211

How much blood clot break down is occurring

Front 212

Thrombosis is a Pathological process because of what?

Back 212

Endothelial Injury (*most significant)

Stasis

Hypercoagulable State

Front 213

What is the most significant factor that promotes thrombosis?

Back 213

Endothelial Injury

Front 214

What are the causes of Endothelial Injury?

Back 214

Hypertension

Turbulent Flow

Inflammation

Front 215

T/F: Congestion and Turbulence, which disrupt normal laminar flow through vessels, can lead thrombosis

Back 215

TRUE

Front 216

How does Primary Thrombosis differ from Secondary Thrombosis?

Back 216

Primary Thrombosis = Genetic

Secondary Thrombosis = Acquired (secondary to other disease conditions)

Front 217

What are three Primary Hypercoaguable States?

Back 217

1. Factor V (Leiden) gene mutation
2. Prothrombin Gene Mutation
3. Hyperhomocysteinemia

Front 218

What is a Factor V (Leiden) Gene mutation?

Back 218

Factor V is resistant to cleavage by Protein C = can't inactivate Factor 5 - its active and promotes clotting

Front 219

What is a Prothrombin gene mutation?

Back 219

Excessive amounts of Pro-thrombin = Hypercoaguable

Front 220

What is Hyperhomocysteinemia?

Back 220

Inhibition of Anti-Thrombin III and Thrombomodulin (can be acquired OR genetic)

Front 221

Name some examples of Acquired Hypercoaguable states

Back 221

Things associated with stasis or vascular injury = heart failure, MI, atherosclerosis, inactivity

Hepatic (Inc. Synth. of Clotting Factors, Dec. Synth. of Anti-Thrombin III)

Cancers

Heparin-induced Ab's that activate platelets

Obesity, Smoking. SO DON'T DO IT!

Antiphospholipid Syndrome

Front 222

What are the fates of a thrombus, once formed?

Back 222

Dissolution
Propagation
Organization/Recanalization
Embolization

Front 223

What is DIC, Disseminated Intravascular Coagulation

Back 223

Widespread thrombin activation with production of fibrin thrombi with microvascularture

Can result ultimately in increased bleeding (=platelet count decreases. More prominent in brain, kidney, heart, lungs, liver)

Front 224

What is an embolism?

Back 224

Dislodged or detached portion of solid, liquid or gas that travels through blood vessels (=Hypoxia and Ischemia)

WHERE Thrombi is determines which circulatory system affected (pulmonary or systemic) and likelihood of impairing blood flow to certain organs

Front 225

What are the dif types of embolisms?

Back 225

Fat
Air/Gas
Tumor
Blood Clot (Thromboembolism)

Front 226

Pulmonary Embolisms are most frequently derived from what?

Back 226

DVT's

Front 227

What percent of cardiac thrombi are derived from cardiac mural thrombi?

Back 227

80%

Most from LV MI

Front 228

What percent of infarcts are due to Thromboembolic events?

Back 228

95% (most occur in heart and brain)

Front 229

What are the different types of Infarct?

Back 229

Hemorrhagic = Red = Venous Occlusion
Anemic = White = Arterial Occlusion

Front 230

Most Infarcts (except the brain) include what type of tissue cell death?

Back 230

Ischemic Coagulative Necrosis

(EXCEPTION = BRAIN = LIQUEFACTIVE NECROSIS)

Front 231

Development of an infarct is dependent on what?

Back 231

Rate of vascular decline (if infarct is not severe, damage will occur more slowly)

Front 232

What are the relative times the brain, heart, and fibroblasts are vulnerable to hypoxia?

Back 232

Brain = 3-4 min
Heart = 20-30 min
Firbroblasts = Many hours

Front 233

What is Shock?

Back 233

Cardiovascular collapse with global hyperfusion of tissues and subsequent anoxia/ischemia

Microvascular Thrombosis
Vasodilation = inc. permeability = dec. perfusion
Immunosuppression

Front 234

What are the major causes of shock?

Back 234

Cardiogenic (heart failure)
Hypovolemic
Septic
Neurogenic
Anaphylactic

Front 235

What causes Cardiogenic Shock

Back 235

MI
Cardiac Arrhythmias
Pulmonary embolism
Cardiac Temponade

Front 236

What is Hypovolemic shock?

Back 236

Reduction of fluid volume some way or another

Things than can cause it:
Burns
Severe Dehydration
(diarrhea, vomiting, excessive perspiration)
Lack of fluid intake to restore blood volume

Front 237

What is Septic Shock?

Back 237

Bacterial Infections

Gram Negative Septicemia; bacteria cause vasodilation and hypotension
Disseminated Intravascular Coagulation (DIC)
Multiple End-Organ Failure
"Shock Lung"
Mortality of Septic Shock = 25-50%

Front 238

What are some causes of Neurogenic Shock?

Back 238

Anesthetic States
Brain/Spinal Cord injury

Front 239

What is Anaphylactic Shock?

Back 239

General Vasodilation from Type I Hypersensitivity Reactions

Front 240

What are the Stages of Shock?

Back 240

Stage I = Compensation (inc. sym. tone)
Stage II = Decompensation (dec. tissue perfusion)
Stage III = Irreversible (necrosis and organ failure)

Front 241

What is Thrombocytopenia?

Back 241

Decreased Platelets = spontaneous bleeding (reduced clotting)

Normal PT and PTT

Increased Destruction of TTP (thrombocytopenic Purpura)

Front 242

What is Von Willebrand Disease?

Back 242

Decreased amount of vWF

Spontaneous bleeding through mucous membranes

Normal PT, may see prolonged PTT

Front 243

What are some clinical bleeding Caogulation disorders?

Back 243

Hemophilia A
Hemophilia B
Acquired Bleeding Disorders (Vit. K deficiency, Liver disease)

Front 244

What is Clinical Antiphospholipid Syndrome (APS)?

Back 244

Ab's directed against phospholipids

Front 245

Developmental Abnormalities typically result in A. Congenital B. Hereditary/Familial Disorders

Back 245

A. Congenital

Front 246

What are the 3 classifications of genetic disorders?

Back 246

1. Chromosomal
2. Disorders related to single genes with pronounced effects
3. Complex multigenic disorders

Front 247

Whats the most common genetic abnormality?

Back 247

Multigenic (=variable contribution of many dif. alleles)

Front 248

T/F: Of the known causes of congenital abnormalities, the majority are heritable in cause

Back 248

TRUE

Front 249

Define Angenesis

Back 249

Absence of organ or anlage (Anlage = initial clustering of embryonic cells from which organ develops)

Front 250

Define Aplasia

Back 250

Persistence of Anlage or rudiment w/o mature organ

Front 251

Define Hypoplasia

Back 251

Reduced size from incomplete development

Front 252

Define Dysraphic Anomaly

Back 252

Failure of opposed structures to fuse

Front 253

Define Involution Failure

Back 253

Inappropriate persistence of structures beyond developmental stage

Front 254

Define Division Failure

Back 254

Incomplete cleavage of embryo

Front 255

Define Atresia

Back 255

Incomplete formation of lumen or tubular structure

Front 256

Define Dysplasia

Back 256

Abnormal histogenesis

Front 257

Define Ectopia/ Heterotopia

Back 257

Organ/Tissue situated outside normal location

Front 258

Define Dystopia

Back 258

Inadequate migration of organ, which remains in developmental location

Front 259

Teratogenic exposure In-Utero has the most significant deleterious effects before what time point?

Back 259

16 weeks

Week 3--> Week 16 = teratogens have major morphogenic affects

Front 260

What are the signs/symptoms of FAS, Fetal Alcohol Syndrome?

Back 260

Small Head (Microcephaly)
Epicanthal folds (=skin fold of upper eyelid)
Short Palepbral Fissure (separation between upper+lower eyelid)
Maxillary Hypoplasia
Thin Upper Lip
Poorly formed Philtrum
Cardiac Septal Defects
Cognitive/Behavior effects

Front 261

What are some Infectious Biological Teratogens? (Teratogen = interferes with embryo development)

Back 261

"TORCH"

Toxoplasma
Other (Syphilis, Varicella-zoster, EBV, TB)
Rubella
CMV
Herpesvirus (HSV 2)

Front 262

What are some of the signs/symptoms if a baby is exposed to some of the infectious biological teratogens (TORCH)?

Back 262

small head
calcifications present
small, closely-set eyes
petichiea purpura (scattered over skin/face)

Front 263

What do cytogenics tell us?

Back 263

Abnormalities in chromosome number and/or structure

Front 264

When do chromosomal abnormalities arise?

Back 264

Somatic cell division (mitosis) (Abnormalities in chromo # varies by cell)

OR

Gametogenesis (if chromo # changed here, all cells will have same # chromos)

Front 265

What are some abnormal chromosome structures?

Back 265

Translocations
Deletions
Inversions

Front 266

What is balanced reciprocal Translocation of chromosomes?

Back 266

When chromsomes mix equally (as opposed to Robertsonian centric fusion, when chromos mix unequally)

Front 267

What is Robertsonian centric fusion of chromosomes?

Back 267

When chromozomes mix unequally, for ex. there is one small chromo and one huge chromo created

Front 268

What is Trisomy 21?

Back 268

Downs Syndrome

Front 269

What is Trisomy 13?

Back 269

Patau's Syndrome

Front 270

What is Trisomy 18?

Back 270

Edward's Syndrome

Front 271

What's the most common cause of congenital (=at birth) retardation?

Back 271

Trisomy 21, Down's Syndrome

Front 272

T/F: Aberrations of sex chromosome number typically produce less severe results than abnormal numbers of autosomes

Back 272

TRUE

Ex. = Klinefelter Syndrome (testicular diagenesis)

Front 273

What is Turner Syndrome?

Back 273

Complete or partial loss of one X chromosome

-Sexual infantilism (poor development)

Neck "wings" out

Possible genetics: 45, X

Front 274

What are some of the single gene mutations?

Back 274

Point mutations
Frameshift mutations
Trinucleotide Repeat

Front 275

What are some examples of Mendelian Inheritance of Genetic Mutations

Back 275

Autosomal Dominant
Autosomal Recessive
Sex-linked Dominant
Sex-Linked Recessive
Codominance
Importance of Penetrance and Expressivity

Front 276

T/F: Most Autosomal Dominant genetic mutations are expressed in a heterozygous state

Back 276

TRUE

Front 277

What is Ehler's Danlos-Syndrome?

Back 277

Connective tissue autosomal dominant disorder

Front 278

What is the difference between NF1 and NF2, both Neurofibromatosis diseases?

Back 278

NF1 = Von Recklinhausen disease. Chromosome 17. Dark skin pigmentation (cafe-au-lait spots...think of woman at festival...)

NF2 = Central neurofibromatosis. Chromosome 22. Tumors of Schwann Cells

Front 279

Whats the most common and lethal Autosomal Recessive genetic disorder?

Back 279

Cystic Fibrosis (1 in 25 caucasians)

Chloride channel mutation = thick mucous

Cl- moves IN cell = Na+ moves IN cell = water follows Na+ = mucous dehydrated = mucous thick = Clogged pancreatic duct = pancreatitis = improper # digestive enzymes = No lipases = can't digest fat = fatty diarrhea (statorhea)

Front 280

What is Lysosomal Storage Disease?

Back 280

Defect in Lysosomal Hydrolases

Ex. = Gaucher Disease (deficiency in glucosylcerebrosidase)

Front 281

What is Tay-Sach's Disease?

Back 281

Ashkenazi Jews

GM2 ganglioside accumulates in lysosomes, (neurons of brain and cells of retina)

Progressive motor, cognitive deterioration

Front 282

What chromosome does Cystic Fibrosis affect?

Back 282

7q

Front 283

What chromosome does Sickle Cell Anemia affect?

Back 283

11p

Front 284

What chromosome does Gaucher disease affect?

Back 284

1q

Front 285

What chromosome does Tay-Sachs affect?

Back 285

15q

Front 286

What is Fragile X Syndrome?

Back 286

Most Common form of INHERITED (not congenital, which is Down's Syndrome) Mental Retardation

Front 287

List some X-linked Recessive Disorders

Back 287

Fragile X Syndrome
Hemophilia A (Factor VIII deficiency)
Duchenne-Becker Muscular Dystrophy

Front 288

What is a trinucleotide repeat disorder?

Back 288

Same 3 Nucleotides repeat over and over

The number of repeated segments often increases with successive generations

Front 289

What are some examples of trinucleotide repeat diseases?

Back 289

Huntington Disease

Fragile X Syndrome

Front 290

What are some examples of X-linked dominant Diseases?

Back 290

Vitamin D-resistant Rickets

Alport's Syndrome

Front 291

What type of genetic disorders are probably the most common cause of genetic disease?

Back 291

Complex Multigenic Disorders

Ex. = Atherosclerosis and Diabetes