Gene and Genetics
What is aneuploidy? Give an example
Presence of, or the absence of one or more chromosomes
List 3 clinical manifestations of cancer
What is inflammation?
A nonspecific normal response
which one doesn’t have inflammation?
Necrosis: unplanned cell death, does have inflammation
apoptosis: programmed cell death, inflammation
List autosomal dominant inheritance diseases. List a fact about it
Huntington‘s
marfan’s syndrome
neurofibromatosis (von recklinghausen disease)
Give an example of autosomal aneuploidy and list 3 signs/symptoms. What are the risk factors for it?
Down syndrome, pregnancy in older women usually over 35 are high risk
epicanthic folds, slanted eyes, flat facial profile
malformed ears, big protruding wrinkled tongue
intestinal malformations, congenital heart disease
short broad hands with simian crease
What is anaplasia? What is well differentiation vs poor differentiation?
Loss of mature or specialized features (structural differentiation) of a cell or tissue
Well: looks closer to original cellular structure.
Poor: doesn’t resemble the cell, tends to indicate aggressive form
List the exudative fluids and what they indicate
Serous exudat: indicated early inflammation
fibrinous exudate: indicate more advanced inflammation
purulent exudate: indicate bacterial infection
hemorrhagic exudate: indicated bleeding
what is ischemia repercussion injury?
Hypoxia: state of reduced oxygen within the tissue
ischemia: insufficient blood flow o the tissue
- additional injury that can be caused by restoration of blood flow and oxygen, free radicals are introduced.
What is the P53 gene?
What would happen if it was mutated?
If it was mutated, it would lead to uncontrolled growth
What is a syndrome that stems from chromosome breakage?
low birth wright, severe intellectual disability, and microcephaly
Proto: normal cellular proliferation (RAS, Myc)
Onco (Oh No!): mutated and lead to uncontrolled cell growth
apoptosis genes: BAX, Bci2
List the cardinal signs of inflammation
explain what happens to get these signs
heat, swelling, redness, pain, possible loss of function
increased flow to the area (blood rushing to which is why it’s red), increased permeability, allows for plasma to enter area and cause swelling. Bradykinin and prostaglandins cause pain
List the 5 cellular adaptions, give an example for each.
Atrophy, hypertrophy, hyperplasia, metaplasia, dysplasia
Define Warburg effect and angiogenesis
Warburg: use of glycolysis under normal oxygen conditions
angiogenesis: growth of new vessels, vascular endothelial growth factor (VEGF)
Give the definition to the following: recurrence risk, penetrants, incomplete penetrants, and expressivity
Penetrance: percentage of individuals with a specific genotype who also epress the expected phenotype (Prob. Gene/trace being expressed)
incomplete penetrate: who has a gene for disease but does not express disease
Expressivity: extend of variation in phenotype associated with a genotype (phenotypic expression)
Define: prevalence, incidence and sensitivity
Incidence: measure the number of new cases in a specific time period
Sensitivity: correctly identify those with a disease
List the e R’s of wound healing.
Secondary intention vs primary intention?
Regeneration: restoration after damage
resolution: restoring to original structure
repair: replacement with scar tissue
1: minimal loss 2: more tissue replacement
List the 5 types of necrosis. Where are they most commonly seen?
Coagulative: kidneys, heart, adrenals
liquefactive: CNS, spinal cord
gangrenous: skin, GI tract
caseous: lungs (TB)
fat: pancreas
Define morbidity , mortality, and specificity
Morbidity: having a disease of a symptom of disease
mortality: number of deaths due to a disease
specificity: identify those without the disease
Turner syndrome vs klinefelter syyndrome
What is staging? How do the stages work?
What is grading? How do the stages work?
Staging= Spred (metastasis)
I; no metastasis II; local invasion III; spread to regional structures IV; distant metastasis
Grading= “grade”= pass/fail *well differentiated/poorly differentiated*
I; well II; moderately III; poorly IV; anaplasia
Too long to write, were they right?
What are Bci and Bci-2 ?
Look at your notes, end of altered cell and in cancer
What system does the World Health Organization use to categorize cancer? Describe how staging works
Tumor, Nodes, and Metastases (TNM)
T0-T3
N0-N2
M0-M2