Cell Injury/Genetics/Oncology
What are the genetic variations that cause Down Syndrome, PKU, CF and Fragile X?
Down Syndrome: nondysjunction/trisomy 21
PKU: autosomal recessive, LOF of phenylalanine hydroxylase (arg-->trp at 498)
CF: autosomal recessive, LOF of CFTR gene (Cl channels)
Fragile X: progressive expansion/anticipation: CGG repeat at FraXq27.3
carcinoma: epithelial tissue
sarcoma: connective tissue
leukemia: cancer of myeloid cell line (begin in bone marrow)
lymphoma: cancer of the lymphoid cell line (lymphocytes/begin in lymph nodes/immune tissue)
adenomas: glandular tissue
Describe the pathophysiology of type I hypersensitivity reaction.
IgE mediated:
IgE on mast cells & basophils bind to antigen, triggering the release of vasoactive substances
Describe the 3 different presentations of MCV of RBCs.
microcytic: decreased MCV
normocytic: normal MCV
macrocytic: increased MCV
Who accidentally third wheeled their crush's date in high school?
Molly
Describe the differences between hypertrophy, atrophy, hyperplasia, metaplasia, and dysplasia.
hypertrophy: increase in cell size
atrophy: tissue wasting
hyperplasia: increase in cell number
metaplasia: change in cell type
dysplasia: disorganized cells of various sizes, shapes & arrangements
Describe the grading system for cancer.
grade I: well differentiated (benign)
grade II: moderate differentiation
grade III: poorly differentiated
grade IV: undifferentiated/anaplastic
Describe type IV hypersensitivity reactions.
delayed--occurring 48 hours+ after exposure to the antigen
*not dependent on antibodies
T cells are activated by APCs; cytokines are released which attracts macrophages, CD4 T cells, and CD8 T cells
example: contact dermatitis
etio: B12 deficiency as a result of intrinsic factor malfunction/deficiency
patho: B12 deficiency leads to alteration in DNA and myelin synthesis, which results in abnormal maturation of RBCs (macrocytic)
Who drank a fifth of fireball with one other person in a night?
Trevor
Describe the difference between necrosis and apoptosis.
necrosis: the body attempts to remove dead cells--> inflammatory response & intracellular components in the bloodstream (ex. troponin)
apoptosis: cell suicide, no inflammatory response (usually physiologic)
Describe the TNM staging system.
Describes progression based on anatomical extent of solid tumors
T(primary tumor), N(node metastasis), M(metastasis)
M1: any combination of T/N with M1 will be stage IV
What is the difference between primary and secondary immunodeficiency disease (and give examples)
primary: inherited (ex: SCID, DiGeorge Syndrome, Selective IgA Deficiency)
secondary: acquired (ex: HIV/AIDS)
Describe the etiology of Thalessemia A, Thalessemia B, and sickle cell disease?
Thalassemia A: abnormally folded alpha hemoglobin chains
Thalassemia B: abnormally folded beta hemoglobin chains
Sickle Cell Disease: abnormally folded beta hemoglobin chains --> become beta sickle chains
Who has two boston terriers back home?
Kyle
Describe the 4 types of necrosis.
coagulative: ischemic injury
liquefactive: lysosomes dissolve tissue --> cyst/abscess
fat: fat cells die (trauma/pancreatitis)
caseous: lung tissue damage from TB
Describe proto-oncogenes, examples, and how they are activated (4 ways).
proto-oncogenes normally code for cell growth; when they go unchecked, they are overactive and can cause cancer
example: HER2 (ERBB2 gene), HGH
4 ways to activate:
1. retroviruses
2. mutation of proto-oncogene
3. mutation to regulator of proto-oncogene
4. error in chromosome replication results in extra copies of the proto-oncogene
Describe the etiology and pathophysiology of DiGeorge syndrome.
etio: chromosome 22q11 deletion
patho: failure to develop thymus (and other organs: parathyroids, cardiac outflow tract) results in severely depressed cell-mediated immunity (CD4 & CD8 T cells); B lymphocytes are unaffected
What are potential causes of thrombocytopenia (4 categories)?
-decreased production: cirrhosis
-decreased survival: prosthetic heart valves, immune thrombotic thrombocytopenia
-inherited disorders: von Willebrand
-acquired: drug-associated immune thrombocytopenia
Who has 13 tattoos?
Meghan
Describe the 4 stages of carcinogenesis.
2. promotion (proliferation under the influence of hormones, growth factors, additional mutations)
3. progression (malignant behavior, heterogeneous tumors arise)
4. metastasis (escape from origin tissue)
Describe tumor suppressor genes & give 2 examples.
Normally, tumor suppressor genes limit growth; in cancer, these are turned off.
p53: in normal cells, inhibits cell cycle & induces apoptosis
BRCCA1: breast cancer, inherited
Describe the late/chronic clinical manifestation of HIV/AIDS.
constitutional symptoms: fever, sweats, weight loss, nausea/vomiting, anorexia, diarrhea
fungal infections: pneumocystis jirovecci; bacterial infections; viral infections
thrush, esophageal candidiasis, hairy leukoplakia
dementia, retinitis
Kaposi sarcoma, non-Hodgkin lymphoma
Describe Virchow's Triad.
hypercoagulability (birth control, pregnancy, cancer)
tissue injury/inflammation
change in blood flow (post-op, sitting for long periods of time, sickle cell, atherosclerosis)