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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
# Monogenic Disorders: Phenylketonuria What is the underlying pathological mechanism?
Mutation in phenylalanine hydroxylase prevents conversion of Phe to tyr and Phe accumulates
26
# Monogenic Disorders: Phenylketonuria What does this disease tell us about normal tissue strucure and function?
Try can become essential (its necesary for alot of processes) Phe is important for CNS balance
27
# Monogenic Disorders: Phenylketonuria What treatments are available?
Chaperones to prevent misfolded Phe hydroxylase degredation Diet restrictions to reduce Phe
28
# Monogenic Disorders: Sickle Cell Anemia What are the clincial symptoms?
Hemolytic Anemia Chronic Hypoxia Growth/development impairment Organ Damage Vaso-occlusive crises Increased susceptibility to infection Bone marrow hyperproliferation Decreased NO
29
# Monogenic Disorders: Sickle Cell Anemia What is the underlying pathological mechanism?
HbA mutated to HbS Hbs creates sticky aggregates wich forms long fibrills Long aggregates twist RBCs More likely to clot and rupture
30
# Monogenic Disorders: Sickle Cell Anemia What does thid disease tell us about normal tissue structure and function?
Biconcave disc shape of RBCs is important for travel thru the body and transport of nutrients and oxygen
31
# Monogenic Disorders: Fragile X Syndrome What are the clinical symptoms?
Intellectual disability Long face Large Jaw
32
# Monogenic Disorders: Fragile X Syndrome What is the underlying pathological mechanism?
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
# Monogenic Disorders: Fragile X Syndrome What does this disease tell us about normal tissue structure and function?
DNA methylation is important for maintaining the stability of AA segments on DNA
34
# Chromosomal Abnormalities: Trisomy 21 What are the clinical symptoms?
Intellectual disability Short stature Epicanthal fold Short broad hanfs Protruding tongue Neurological disorders
35
# Chromosomal Abnormalities: Trisomy 21 What is the underlying pathological mechanism?
Mioetic nondisjunction resulting in overexpression or underexpression of chromosomes in daughter cells
36
# Chromosomal Abnormalities: Trisomy 21 What does this disease ell us about normal tissue structure and function?
Helps understand what genes are important and what they do
37
# Chromosomal Abnormalities: DiGeorge Syndrome What are the clinical symptoms?
T-cell immunodeficiency Hypocalcemia Cardiac malformations Mild facial anomalies Thymus hypoplasia Parathyroid hypoplasia
38
# Chromosomal Abnormalities: DiGeorge Syndrome What is the underlying pathological mechanism?
Chromosomal deletion or addition
39
# Chromosomal Abnormalities: DiGeorge Syndrome What does this disease tell us about normal tissue structure and function?
Gene in deleted region is important/associated with phenotypic features and organs
40
# Complex Multigenic DIsorders: Type 1 Diabetes What are the clinical symptoms?
High blood glucose Excessive thirst, urination, and hunger Insufficient insulin function
41
# Complex Multigenic Disorders: Type 1 Diabetes What does this disease tell us about normal tissue structure and function?
Pancreatic B cells are β cells are necessary for proper insulin production
42
# Complex Multigenic Disorders: Type 1 Diabetes What treatments are available?
Insulin
43
# Complex Multigenic Disorders: Amyloidosis What are clinical symptoms?
Improperly folded proteins found in amyloid deposits
44
# Complex Multigenic Disorders: Amyloidosis What is the underlying pathological mechanism?
Mutation in amyloid or nonamyloid protein Production of mutated precursor or excessive production of precursor
45
# Complex Multigenic Disorders: Amyloidosis What does this disease tell us about normal tissue structure and function?
Too much amyloid/protein can destory tissues
46
# Complex Multigenic Disorders: Amyloidosis What treatments are available?
Based on elimitating source Target underlying plasma issue Chemotherapy Stem cell rescue
47
# Bruton Agammaglobulinemia What are the clinical symptoms?
Absent or decreased circualtory B cells Decreased Ig classes Normal pre B cells underdeveloped germinal cells absent plasma cells
48
# Bruton Agammaglobulinemia What are the underlying pathological mechanism?
Mutations in BTK prevents signaling pathway
49
# Bruton Agammaglobulinemia What does this tell us about normal tissue structure and function?
BTK is important for B cell development B cells are important for Ab production
50
# Allergic Rhinitis What are the clinical symptoms?
Increased mucus secretion Inflammation of upper airways/sinuses Itchy runny nose Sneezing Edema
51
# Allergic Rhinitis What is the underlying pathological mechanism?
Exposure to antigen -> IgE binds -> degranulation of mast cells -> histamine/chemokines released
52
# Allergic Rhinitis What treatments are available?
Antihistamines
53
# Urticaria What are the clinical symptoms?
Wheals on the skin
54
# Urticaria What is the underlying pathological mechanism?
Localized mast cell degranulation
55
# Urticaria What treatments are available?
Antihistamines
56
# Systemic Lupus Erythematosus (SLE) What are the clinical symptoms?
Acute necrotizing vasculitis Erythematoses Hematuria proteinuria rashes ulcers inflammation Kidney failure
57
# Systemic Lupus Erythematosus (SLE) What is the underlying pathological mechanism?
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
# Systemic Lupus Erythematosus (SLE) What does this disease tell us about normal tissue structure and function?
Self reactive cells are usually terminated
59
# Systemic Lupus Erythematosus (SLE) What treatments are available?
Immunosuppressants
60
# Systemic Sclerosis (Scleroderma) What are the clinical symptoms?
Excessive fibrosis Decreased skin flexibility/elasticity Thin epidermis Loss of hair/nails Atrophy GERD Malabsorption Renal/pulmonary hypertension
61
# Systemic Sclerosis (Scleroderma) What is the underlying pathological mechanism?
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
# Rheumatoid Arthritis What are the clinical symptoms?
Fatigue Joint inflammation Ankylosis Increase neutrophil, protein Decreased mucin Ulnar drift
63
# Rheumatoid Arthritis What is the underlying pathological mechanism?
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
# Rheumatoid Arthritis What treatments are available?
Pain relievers Antiinflammatories TNF antagonists
65
# Gout What are yhr clinical symptoms?
Crystal depositions (tophus) joint damage/deformity
66
# Gout What is the underlying pathological mechanism?
Increase purine catabolism Decreased glomerular infiltration CARD -> caspase 1 -> cleaves/activates IL-1B (which activates NFkB transcription factor) and IL-18
67
# Gout What does this disease tell us about normal tissue structure and function?
Xanthine oxidase is important for uric acid levels
68
# Gout What treatments are available?
Inhibition of xanthine oxidase
69
# Acute Osteomyelitis What are the clinical symptoms?
Inflammation of bone/marrow
70
# Acute Osteomyelitis What is the underlying pathological mechanism?
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
# Acute Osteomyelitis What treatments are available?
Antibiotics/bone stabilizing
72
# Chronic Osteomyelitis What are the clinical symptoms?
Inflammation of bone/marrow
73
# Chronic Osteomyelitis What is the underlying pathological mechanism?
Chronic inflammatory cells release cytokines -> osteoclasts resorb bone -> fibruous tissue fills space -> reactive bone covers lesions
74
# Chronic Osteomyelitis What treatments are available?
Antibiotics/bone stabilizing
75
# Osteoporosis What are the clinical symptoms?
Loss of bone density Increase risk of fracture and hospitalization complications
76
# Osteoporosis What is the underlying pathological mechanism?
Estrogens inhibit osteoclast activity by limiting cytokine activity
77
# Osteoporosis What does this disease tell us about normal tissue structure and function?
Estrogen is important for proper bone growth
78
# Osteoporosis What treatments are available?
SERMs Bisphosphates

Mechanism of Disease (11 decks)

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