Exam 1: Diseases/Disorders Flashcards
Meningitis
What are the clinical symptoms?
Acute onset fever
Headache
Stiff neck
Photophobia
Confusion
Inflammation of subarachnoid space
Meningitis
What is the underlying pathological mechanism?
- Colonization of Nasopharynx
- Exade opsonization in the blood stream
- CSF access thru endothelium of BBB
Meningitis
What does Meningitis tell us about normal tissue structure and function?
Blood flow thru the subarachnoid space is important for nutrient and oxygen flor
Parasitic Diseases: Trichinosis
What are the clinical symptoms of the enteric phase?
Diarrhea and nausea
Vomiting
Pain
Low grade fever
Parasitic Diseases: Trichinosis
What are the clinical symptoms of the muscle stage?
Myalgia and paralysis
Fever
Headache
Edema
Conjuctivitis
Parasitic Diseases: Trichinosis
What is the underlying pathological mechanism?
- adult in intestines produce larvae
- Larvae infiltrate blood
- Exit blood vessels into skeletal muscle
- Infect muscle fibers
- Adults die and muscle fiber calficies
Parasitic Diseases: Trichinosis
What does this diseases tell us about normal tissue structure and function?
Skin Disorders: Psoriasis
What are the clinical symptoms?
Reddness
Swelling
Edema
Scaling Skin
Skin Disorders: Psoriasis
What are the underlying pathological mechanisms?
Thickened epidermis
Neutrophil infiltration
Parakeratosis
Endothelial cell proliferation
Cytokine over expression
Skin Disorders: Psoriasis
What treatments are available?
Topical VEGF
Skin Disorders: Verrucae (Warts)
What are the clinical symptoms?
Squamoproliferation
Epidermal Hyperplasia is uneven
Skin Disorders: Verrucae (Warts)
What is the underlying pathological mechanism?
HPV viral proteins in keratinocytes
Cytoplasmic vacuolization
Increased keratohyalin granules
Keratin Aggregates
Skin Disorders: Verrucae (Warts)
What does this diesase tell us about normal tissue structure and function?
Skin Disorders: Verrucae (Warts)
What treatments are available?
Self-regression
Freezing or burning off
Skin Disorders: Pemphigus
What are the clinical symptoms?
Blister
Skin Disorders: Pemphigus
What is the underlying pathological mechanism?
Autoantibodies attack intercellular junctions
Dissolution of intercellular bridges
Skin Disorders: Pemphigus
What does this disease tell us a bout normal tissue structure and function?
Monogenic Disorders: Neurofibromatosis
What are the clincial symptoms?
Tumor on peripheral nerve sheath
Optic nerve glioma
Lisch nodules
Skin Growth
Monogenic Disorders: Neurofibromatosis
What is the underlying pathological mechanism?
Mutation in NF1 that prevents inactivation in Ras signaling resulting in unregulated cell growth
Monogenic Disorders: Neurofibromatosis
What does this disease tell us about normal tissue structure and function?
Ras signaling is important for regulating cell growth/understanding the role of growth factor signaling in tumors
Monogenic Disorders: Ehlers - Danlo Syndrome
What are the clincial symptoms?
Elastic Skin
Bruises easily
Overly flexible joints
Monogenic Disorders: Ehlers - Danlo Syndrome
What is the underlying pathological mechanism?
Defect in fibrillar collagen
Monogenic Disorders: Ehlers - Danlo Syndrome
What does this disease tell us about normal tissue structure and function?
Collagen is important for tissue strength and structure of alot og organs, as well as wound healing and scar formation
Monogenic Disorders: Phenylketonuria
What are the clinical symptoms?
Severe intellectual disability
Growth retardation
Seizures
Hypopigmentation
Rashes
Monogenic Disorders: Phenylketonuria
What is the underlying pathological mechanism?
Mutation in phenylalanine hydroxylase prevents conversion of Phe to tyr and Phe accumulates
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
Monogenic Disorders: Phenylketonuria
What treatments are available?
Chaperones to prevent misfolded Phe hydroxylase degredation
Diet restrictions to reduce Phe
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
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
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
Monogenic Disorders: Fragile X Syndrome
What are the clinical symptoms?
Intellectual disability
Long face
Large Jaw
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
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
Chromosomal Abnormalities: Trisomy 21
What are the clinical symptoms?
Intellectual disability
Short stature
Epicanthal fold
Short broad hanfs
Protruding tongue
Neurological disorders
Chromosomal Abnormalities: Trisomy 21
What is the underlying pathological mechanism?
Mioetic nondisjunction resulting in overexpression or underexpression of chromosomes in daughter cells
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
Chromosomal Abnormalities: DiGeorge Syndrome
What are the clinical symptoms?
T-cell immunodeficiency
Hypocalcemia
Cardiac malformations
Mild facial anomalies
Thymus hypoplasia
Parathyroid hypoplasia
Chromosomal Abnormalities: DiGeorge Syndrome
What is the underlying pathological mechanism?
Chromosomal deletion or addition
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
Complex Multigenic DIsorders: Type 1 Diabetes
What are the clinical symptoms?
High blood glucose
Excessive thirst, urination, and hunger
Insufficient insulin function
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
Complex Multigenic Disorders: Type 1 Diabetes
What treatments are available?
Insulin
Complex Multigenic Disorders: Amyloidosis
What are clinical symptoms?
Improperly folded proteins found in amyloid deposits
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
Complex Multigenic Disorders: Amyloidosis
What does this disease tell us about normal tissue structure and function?
Too much amyloid/protein can destory tissues
Complex Multigenic Disorders: Amyloidosis
What treatments are available?
Based on elimitating source
Target underlying plasma issue
Chemotherapy
Stem cell rescue
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
Bruton Agammaglobulinemia
What are the underlying pathological mechanism?
Mutations in BTK prevents signaling pathway
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
Allergic Rhinitis
What are the clinical symptoms?
Increased mucus secretion
Inflammation of upper airways/sinuses
Itchy runny nose
Sneezing
Edema
Allergic Rhinitis
What is the underlying pathological mechanism?
Exposure to antigen -> IgE binds -> degranulation of mast cells -> histamine/chemokines released
Allergic Rhinitis
What treatments are available?
Antihistamines
Urticaria
What are the clinical symptoms?
Wheals on the skin
Urticaria
What is the underlying pathological mechanism?
Localized mast cell degranulation
Urticaria
What treatments are available?
Antihistamines
Systemic Lupus Erythematosus (SLE)
What are the clinical symptoms?
Acute necrotizing vasculitis
Erythematoses
Hematuria
proteinuria
rashes
ulcers
inflammation
Kidney failure
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
Systemic Lupus Erythematosus (SLE)
What does this disease tell us about normal tissue structure and function?
Self reactive cells are usually terminated
Systemic Lupus Erythematosus (SLE)
What treatments are available?
Immunosuppressants
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
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
Rheumatoid Arthritis
What are the clinical symptoms?
Fatigue
Joint inflammation
Ankylosis
Increase neutrophil, protein
Decreased mucin
Ulnar drift
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
Rheumatoid Arthritis
What treatments are available?
Pain relievers
Antiinflammatories
TNF antagonists
Gout
What are yhr clinical symptoms?
Crystal depositions (tophus)
joint damage/deformity
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
Gout
What does this disease tell us about normal tissue structure and function?
Xanthine oxidase is important for uric acid levels
Gout
What treatments are available?
Inhibition of xanthine oxidase
Acute Osteomyelitis
What are the clinical symptoms?
Inflammation of bone/marrow
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
Acute Osteomyelitis
What treatments are available?
Antibiotics/bone stabilizing
Chronic Osteomyelitis
What are the clinical symptoms?
Inflammation of bone/marrow
Chronic Osteomyelitis
What is the underlying pathological mechanism?
Chronic inflammatory cells release cytokines -> osteoclasts resorb bone -> fibruous tissue fills space -> reactive bone covers lesions
Chronic Osteomyelitis
What treatments are available?
Antibiotics/bone stabilizing
Osteoporosis
What are the clinical symptoms?
Loss of bone density
Increase risk of fracture and hospitalization complications
Osteoporosis
What is the underlying pathological mechanism?
Estrogens inhibit osteoclast activity by limiting cytokine activity
Osteoporosis
What does this disease tell us about normal tissue structure and function?
Estrogen is important for proper bone growth
Osteoporosis
What treatments are available?
SERMs
Bisphosphates
