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Mechanism of Disease > Exam 1: Diseases/Disorders > Flashcards

Exam 1: Diseases/Disorders Flashcards

1
Q

Meningitis

What are the clinical symptoms?

A

Acute onset fever
Headache
Stiff neck
Photophobia
Confusion
Inflammation of subarachnoid space

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2
Q

Meningitis

What is the underlying pathological mechanism?

A
  1. Colonization of Nasopharynx
  2. Exade opsonization in the blood stream
  3. CSF access thru endothelium of BBB
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3
Q

Meningitis

What does Meningitis tell us about normal tissue structure and function?

A

Blood flow thru the subarachnoid space is important for nutrient and oxygen flor

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4
Q

Parasitic Diseases: Trichinosis

What are the clinical symptoms of the enteric phase?

A

Diarrhea and nausea
Vomiting
Pain
Low grade fever

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5
Q

Parasitic Diseases: Trichinosis

What are the clinical symptoms of the muscle stage?

A

Myalgia and paralysis
Fever
Headache
Edema
Conjuctivitis

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6
Q

Parasitic Diseases: Trichinosis

What is the underlying pathological mechanism?

A
  1. adult in intestines produce larvae
  2. Larvae infiltrate blood
  3. Exit blood vessels into skeletal muscle
  4. Infect muscle fibers
  5. Adults die and muscle fiber calficies
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7
Q

Parasitic Diseases: Trichinosis

What does this diseases tell us about normal tissue structure and function?

A
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8
Q

Skin Disorders: Psoriasis

What are the clinical symptoms?

A

Reddness
Swelling
Edema
Scaling Skin

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9
Q

Skin Disorders: Psoriasis

What are the underlying pathological mechanisms?

A

Thickened epidermis
Neutrophil infiltration
Parakeratosis
Endothelial cell proliferation
Cytokine over expression

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10
Q

Skin Disorders: Psoriasis

What treatments are available?

A

Topical VEGF

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11
Q

Skin Disorders: Verrucae (Warts)

What are the clinical symptoms?

A

Squamoproliferation
Epidermal Hyperplasia is uneven

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12
Q

Skin Disorders: Verrucae (Warts)

What is the underlying pathological mechanism?

A

HPV viral proteins in keratinocytes
Cytoplasmic vacuolization
Increased keratohyalin granules
Keratin Aggregates

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13
Q

Skin Disorders: Verrucae (Warts)

What does this diesase tell us about normal tissue structure and function?

A
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14
Q

Skin Disorders: Verrucae (Warts)

What treatments are available?

A

Self-regression
Freezing or burning off

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15
Q

Skin Disorders: Pemphigus

What are the clinical symptoms?

A

Blister

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16
Q

Skin Disorders: Pemphigus

What is the underlying pathological mechanism?

A

Autoantibodies attack intercellular junctions
Dissolution of intercellular bridges

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17
Q

Skin Disorders: Pemphigus

What does this disease tell us a bout normal tissue structure and function?

A
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18
Q

Monogenic Disorders: Neurofibromatosis

What are the clincial symptoms?

A

Tumor on peripheral nerve sheath
Optic nerve glioma
Lisch nodules
Skin Growth

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19
Q

Monogenic Disorders: Neurofibromatosis

What is the underlying pathological mechanism?

A

Mutation in NF1 that prevents inactivation in Ras signaling resulting in unregulated cell growth

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20
Q

Monogenic Disorders: Neurofibromatosis

What does this disease tell us about normal tissue structure and function?

A

Ras signaling is important for regulating cell growth/understanding the role of growth factor signaling in tumors

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21
Q

Monogenic Disorders: Ehlers - Danlo Syndrome

What are the clincial symptoms?

A

Elastic Skin
Bruises easily
Overly flexible joints

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22
Q

Monogenic Disorders: Ehlers - Danlo Syndrome

What is the underlying pathological mechanism?

A

Defect in fibrillar collagen

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23
Q

Monogenic Disorders: Ehlers - Danlo Syndrome

What does this disease tell us about normal tissue structure and function?

A

Collagen is important for tissue strength and structure of alot og organs, as well as wound healing and scar formation

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24
Q

Monogenic Disorders: Phenylketonuria

What are the clinical symptoms?

A

Severe intellectual disability
Growth retardation
Seizures
Hypopigmentation
Rashes

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25
Q

Monogenic Disorders: Phenylketonuria

What is the underlying pathological mechanism?

A

Mutation in phenylalanine hydroxylase prevents conversion of Phe to tyr and Phe accumulates

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26
Q

Monogenic Disorders: Phenylketonuria

What does this disease tell us about normal tissue strucure and function?

A

Try can become essential (its necesary for alot of processes)
Phe is important for CNS balance

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27
Q

Monogenic Disorders: Phenylketonuria

What treatments are available?

A

Chaperones to prevent misfolded Phe hydroxylase degredation
Diet restrictions to reduce Phe

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28
Q

Monogenic Disorders: Sickle Cell Anemia

What are the clincial symptoms?

A

Hemolytic Anemia
Chronic Hypoxia
Growth/development impairment
Organ Damage
Vaso-occlusive crises
Increased susceptibility to infection
Bone marrow hyperproliferation
Decreased NO

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29
Q

Monogenic Disorders: Sickle Cell Anemia

What is the underlying pathological mechanism?

A

HbA mutated to HbS
Hbs creates sticky aggregates wich forms long fibrills
Long aggregates twist RBCs
More likely to clot and rupture

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30
Q

Monogenic Disorders: Sickle Cell Anemia

What does thid disease tell us about normal tissue structure and function?

A

Biconcave disc shape of RBCs is important for travel thru the body and transport of nutrients and oxygen

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31
Q

Monogenic Disorders: Fragile X Syndrome

What are the clinical symptoms?

A

Intellectual disability
Long face
Large Jaw

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32
Q

Monogenic Disorders: Fragile X Syndrome

What is the underlying pathological mechanism?

A

Mutation in FMR1 causes multiple CGG tandem repeats which causes hypermethylation and stabilizes unstable CGG segments
Lack of folate prevents methylation, unstable CGG segments break

33
Q

Monogenic Disorders: Fragile X Syndrome

What does this disease tell us about normal tissue structure and function?

A

DNA methylation is important for maintaining the stability of AA segments on DNA

34
Q

Chromosomal Abnormalities: Trisomy 21

What are the clinical symptoms?

A

Intellectual disability
Short stature
Epicanthal fold
Short broad hanfs
Protruding tongue
Neurological disorders

35
Q

Chromosomal Abnormalities: Trisomy 21

What is the underlying pathological mechanism?

A

Mioetic nondisjunction resulting in overexpression or underexpression of chromosomes in daughter cells

36
Q

Chromosomal Abnormalities: Trisomy 21

What does this disease ell us about normal tissue structure and function?

A

Helps understand what genes are important and what they do

37
Q

Chromosomal Abnormalities: DiGeorge Syndrome

What are the clinical symptoms?

A

T-cell immunodeficiency
Hypocalcemia
Cardiac malformations
Mild facial anomalies
Thymus hypoplasia
Parathyroid hypoplasia

38
Q

Chromosomal Abnormalities: DiGeorge Syndrome

What is the underlying pathological mechanism?

A

Chromosomal deletion or addition

39
Q

Chromosomal Abnormalities: DiGeorge Syndrome

What does this disease tell us about normal tissue structure and function?

A

Gene in deleted region is important/associated with phenotypic features and organs

40
Q

Complex Multigenic DIsorders: Type 1 Diabetes

What are the clinical symptoms?

A

High blood glucose
Excessive thirst, urination, and hunger
Insufficient insulin function

41
Q

Complex Multigenic Disorders: Type 1 Diabetes

What does this disease tell us about normal tissue structure and function?

A

Pancreatic B cells are β cells are necessary for proper insulin production

42
Q

Complex Multigenic Disorders: Type 1 Diabetes

What treatments are available?

A

Insulin

43
Q

Complex Multigenic Disorders: Amyloidosis

What are clinical symptoms?

A

Improperly folded proteins found in amyloid deposits

44
Q

Complex Multigenic Disorders: Amyloidosis

What is the underlying pathological mechanism?

A

Mutation in amyloid or nonamyloid protein
Production of mutated precursor or excessive production of precursor

45
Q

Complex Multigenic Disorders: Amyloidosis

What does this disease tell us about normal tissue structure and function?

A

Too much amyloid/protein can destory tissues

46
Q

Complex Multigenic Disorders: Amyloidosis

What treatments are available?

A

Based on elimitating source
Target underlying plasma issue
Chemotherapy
Stem cell rescue

47
Q

Bruton Agammaglobulinemia

What are the clinical symptoms?

A

Absent or decreased circualtory B cells
Decreased Ig classes
Normal pre B cells
underdeveloped germinal cells
absent plasma cells

48
Q

Bruton Agammaglobulinemia

What are the underlying pathological mechanism?

A

Mutations in BTK prevents signaling pathway

49
Q

Bruton Agammaglobulinemia

What does this tell us about normal tissue structure and function?

A

BTK is important for B cell development
B cells are important for Ab production

50
Q

Allergic Rhinitis

What are the clinical symptoms?

A

Increased mucus secretion
Inflammation of upper airways/sinuses
Itchy runny nose
Sneezing
Edema

51
Q

Allergic Rhinitis

What is the underlying pathological mechanism?

A

Exposure to antigen -> IgE binds -> degranulation of mast cells -> histamine/chemokines released

52
Q

Allergic Rhinitis

What treatments are available?

A

Antihistamines

53
Q

Urticaria

What are the clinical symptoms?

A

Wheals on the skin

54
Q

Urticaria

What is the underlying pathological mechanism?

A

Localized mast cell degranulation

55
Q

Urticaria

What treatments are available?

A

Antihistamines

56
Q

Systemic Lupus Erythematosus (SLE)

What are the clinical symptoms?

A

Acute necrotizing vasculitis
Erythematoses
Hematuria
proteinuria
rashes
ulcers
inflammation
Kidney failure

57
Q

Systemic Lupus Erythematosus (SLE)

What is the underlying pathological mechanism?

A

Production of ANAs -> ANAs bind antigens -> Ab:Ag complex -> Increase Ab production from B cells -> DCs produce cytokines -> further stimulation of B Cells -> Ab:Ag complex deposition -> immune response

58
Q

Systemic Lupus Erythematosus (SLE)

What does this disease tell us about normal tissue structure and function?

A

Self reactive cells are usually terminated

59
Q

Systemic Lupus Erythematosus (SLE)

What treatments are available?

A

Immunosuppressants

60
Q

Systemic Sclerosis (Scleroderma)

What are the clinical symptoms?

A

Excessive fibrosis
Decreased skin flexibility/elasticity
Thin epidermis
Loss of hair/nails
Atrophy
GERD
Malabsorption
Renal/pulmonary hypertension

61
Q

Systemic Sclerosis (Scleroderma)

What is the underlying pathological mechanism?

A

External stimuli -> endothelial injury ->proliferative and oblierative vasculopathy -> ischemia, repair
Genetic stimuli -> T/B cell activation -> production of profibrotic cytokines (TGFB, IL-13; PDGF)

-> Increased synthesis of ECM proteins; fibrosis involving skin and parenchymal organs

62
Q

Rheumatoid Arthritis

What are the clinical symptoms?

A

Fatigue
Joint inflammation
Ankylosis
Increase neutrophil, protein
Decreased mucin
Ulnar drift

63
Q

Rheumatoid Arthritis

What is the underlying pathological mechanism?

A

Genetic susceptibility -> Failure of tolerance/unreglated lymphocyte activation
Environmental factors -> enzymatic modification of self proteins

->T/B cell responses to self antigens -> lymphatic infilitration of synovium -> pannus formation

64
Q

Rheumatoid Arthritis

What treatments are available?

A

Pain relievers
Antiinflammatories
TNF antagonists

65
Q

Gout

What are yhr clinical symptoms?

A

Crystal depositions (tophus)
joint damage/deformity

66
Q

Gout

What is the underlying pathological mechanism?

A

Increase purine catabolism
Decreased glomerular infiltration
CARD -> caspase 1 -> cleaves/activates IL-1B (which activates NFkB transcription factor) and IL-18

67
Q

Gout

What does this disease tell us about normal tissue structure and function?

A

Xanthine oxidase is important for uric acid levels

68
Q

Gout

What treatments are available?

A

Inhibition of xanthine oxidase

69
Q

Acute Osteomyelitis

What are the clinical symptoms?

A

Inflammation of bone/marrow

70
Q

Acute Osteomyelitis

What is the underlying pathological mechanism?

A

Bacterial proliferation -> inflammatory response -> necrosis in the bone -> spread thru the haversion canal -> abscess near periosteum -> Infection spreads along bone -> decrease in blood flow -> necrosis

71
Q

Acute Osteomyelitis

What treatments are available?

A

Antibiotics/bone stabilizing

72
Q

Chronic Osteomyelitis

What are the clinical symptoms?

A

Inflammation of bone/marrow

73
Q

Chronic Osteomyelitis

What is the underlying pathological mechanism?

A

Chronic inflammatory cells release cytokines -> osteoclasts resorb bone -> fibruous tissue fills space -> reactive bone covers lesions

74
Q

Chronic Osteomyelitis

What treatments are available?

A

Antibiotics/bone stabilizing

75
Q

Osteoporosis

What are the clinical symptoms?

A

Loss of bone density
Increase risk of fracture and hospitalization complications

76
Q

Osteoporosis

What is the underlying pathological mechanism?

A

Estrogens inhibit osteoclast activity by limiting cytokine activity

77
Q

Osteoporosis

What does this disease tell us about normal tissue structure and function?

A

Estrogen is important for proper bone growth

78
Q

Osteoporosis

What treatments are available?

A

SERMs
Bisphosphates

Mechanism of Disease (11 decks)

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