Chapter 1 Flashcards
What is pathophysiology?
the study of the disorder or breakdown of the human body’s function.
Do immune dieseases affect men or women more?
Women
Etiology
cause or reason for the event
May include agents, age, gender, health, nutritional status, genetics, etc.
Idiopathic: unknown
Iatrogenic: unintended effect of a medical treatment
May be intrinsic or extrinsic
Pathogenesis
development and evolution of a disease
Affected by time, quantity, location, and morphologic changes
Clinical manifestations
Includes S/S of the disease, stages of the disease, acute vs. chronic
Epidemiology
patterns of diseases in a group of people
What are the levels of prevention of disease?
Primary: do not have the disease and you are trying to prevent it (e.g., vaccines)
Secondary: disease detection (e.g., Pap smears and yearly physicals)
Tertiary: trying to prevent problems from the disease or problem (e.g., rehabilitation)
Microflora
the multitude of microorganisms that live on/in the human body in natural balance and do not cause infections. Some are beneficial some have no effect.
Infectious Disease
invasion of microorganisms when only the infecting organism benefits from living in the host and causes sustained injury/illness to the host.
Virulence
the disease producing potential of the invading microorganism. How bad is the bug?
local/systemic
Pathogens
a groups of microorganisms with high virulence that are not found in the human body without causing disease.
ex. MRSA, Hep B, C Diff
What can cause opportunistic pathogens to cause infection?
Anything that suppresses the immune system (ex. malnutrition, HIV infection, fatigue, chemotherapy antibiotic treatment, pregnancy)
Incidence
The probability of being diagnosed with a disease at any given time
What influences transmission of diseases among humans?
contact either airborne or touch through droplets, inhalation
Virulence Factors
impact how common it will be
What are the portals of entry?
Penetration, Direct Contact, Ingestion, and Inhalation
What are cellular attributes?
Ability to exchange material with their environment
Ability to obtain energy from organic nutrients (electrolytes, pathogens)
Ability to manufacture complex molecules (protein building, wound healing)
Ability to replicate themselves
What are the 3 major components of eukaryotic cells?
Nucleus, Cytoplasm, & Cell Membrane
Why is the nucleus important?
important for chromosomal disorders Contains chromatin and nucleolus At least one per cell Control center Genetic code Nucleoli
Why is the cytoplasm important?
exchange of materials
Place for cell work
Contains water, electrolytes, suspended protein, neutral fats, and glycogen
Contains the organelles
3 things about ribosomes
Site for protein synthesis
Small particles of nucleoproteins
May be attached to ER or free
3 things about Endoplasmic Reticulum (ER)
Matrix of paired membranes and vesicles
Tubular communication system
Place where metabolic activity occurs
What are the 2 forms of ER?
rough and smooth
What does Rough ER do?
produce proteins for membranes and lysosomal enzymes
breakdown of proteins
What does Smooth ER do?
lipid, lipoprotein, and steroid synthesis; regulation of intracellular Ca, metabolism, and detoxification of hormones and drugs
contraction of muscle bc CA
kidneys and liver detoxied
Golgi apparatus
- site for carb production
- cells in pancreas produce insulin and glycoproteins
Lysosomes
Break down cell products and foreign bodies to be used again (recycle)
- they require acidic environment
Peroxisomes
- control free radicals
- unstable 02 compounds which can cause damage
Mitochondria
Power plants
Aerobic metabolism—ATP
Number in a given cell varies depending on the cell’s energy needs
Contains own DNA and ribosomes
Ischemia
inadequate o2 (hypoxia)
cellmembrane
Semipermeable Contains receptors Involved in electrical conduction Regulates cell growth and proliferation Lipid bilayer Proteins
Pinocytosis
Cell drinking
phagocytosis
cell eating
when do pinocytosis and phagocytosis occur?
with blood cell diseases
Where is Na and K primarily?
Na- out
K- in
what is cell proliferation?
when cells divide and reproduce (mitosis and meiosis)
What happens in mitosis and what are the 4 stages?
the cells are replaced
- prophase
- metaphas
- anaphase
- telophase
What happens in meosis?
New sperm and ova join
What do meiosis and mitosis help with?
skin and would repair
What is cell differentiation?
Proliferated cells become different and specialized
Begins after fertilization
Generalized to specific
Why do cells change shape?
they change due to stress, environment, viral, hormonal
What is atrophy?
a deacrease in workload that causes a decrease in size of organelles that causes a decrease in engergy that causes a decrease in function
What is hypertrophy?
increase in workload –> increase in size and number of organelles –> increase in contractility –> decrease in function
Hyperplasia
increase workload –> increase in size and number –> increase in function
Metaplasia
is pathological and normal cells become abnormal cells through replacement (eg. cancer)
Dysplasia
is pathological and normal beccome abnormal through mutation (eg. inflammation or virus)
how do most diseases start?
with cell injury
How does cell injury occur?
low 02
can cell injury be reversible?
to a point through compensation and cell renewal
What is apoptosis?
“programmed suicide” - RBC lifespan 120 days (this is normal)
What are causes of cell injury?
Physical agents -Mechanical forces -Extreme temperature -Electrical Radiation -Ionizing -Ultraviolet -Non-ionizing Chemical -Poisonings -Drugs Biological agents -Nutritional imbalances
What are the mechanisms of injury to cells?
ischemia (lack of 02)
necrosis (damage)
free radicals
What is neoplasia?
New growth (a tumor)
What is carcinogenesis?
The development of cancer
What are the steps in carcinogenesis?
- Initiation: introduction of the agent
- Promotion: Initiation of uncontrolled growth
- Progression: permanent malignant changes
What are oncogenes?
Mutations, active cell divison
What are carcinogens?
cigs, chemicals, gasoline, sunlight
What is benign?
Slow, progressive, localized, well defined, resembles host (more differentiated), grows by expansion, does not usually cause death
What is malignant?
Rapid growing, spreads (metastasis) quickly, fatal, highly undifferentiated
What does the capsule of a cell do?
Keep the cells together and preventing growth
What happens when there is no capsule to a cell?
nothing is holding the cells together and invading/spreading begins
-this occurs through blood and lymph
What is the acronoym for clinical manifestations of cancer?
C: change in bowel or bladder A: sore that doesn't heal U: unusual bleeding & discharge T: Thickening of lump I: Indigestion of difficulty swallowing O: Obvious change N: Nagging cough
What are the complications of cancer development?
Anemia (low Rbcs), Cachexia (emaciated), Fatigue (low RBC, malnutrition), Infection (decrease immune system), Leukopenia (decrease in WBC), Thrombocytopenia (low platelets), Pain
What is angiogenesis?
Spread to other organs— increase in stage
What are the three goals of treatment for cancer?
- Curative
- Pallative
- Prophylactic
What is curative care?
curing the cancer
What is pallative care?
treat for comfort
What is prophylatic?
preventing benign growth from removal
how many pairs of chromosomes are there?
23 pairs
What is a single gene disorder?
changes in the DNA affect a single protein product (enzyme, receptor protein…) that causes the disorder.
(sickle cell)
What is a multiple gene disorder?
Rearrangement of chromosomes or abnormal numbers of chromosomes affecting many genes resulting in abnormal development.
(autism)
What are alleles?
are copies of a gene
Facts about autosomal dominant disorders
Transmitted from an affected parent to offspring regardless of gender
50% chance of transmission
Unaffected do not pass on the disorder
Delayed onset
Examples: Marfan syndrome and neurofibromatosis
Marfan Syndrome
-Disorder of connective tissue
-Mutation on chromosome 15
-Mutation combines with other fibrillins and gives rise to microfibrils
-Roles of microfibrils: strength, growth factor release, tissue repair
-Mutation leads to reduced elasticity and excess growth factor release
-Affects eyes, skeleton, and cardiovascular system
-Diagnosis
-History, physical
examination, skin
biopsy (presence of
fibrillin), genetic
testing
-Treatment
-None, palliative
Neurofibromatosis
-Neurogenic tumors
-Two forms
-Type 1: defect on
chromosome 17;
subcutaneous
lesions, café-au-
lait spots (at least
6 at birth),
freckles, scoliosis,
erosive bone
defects, and
nervous system
tumors
-Type 2: defect on
chromosome 22;
tumors of the
acoustic nerve
-Treatment
-Palliative removal
of tumors
facts about autosomal recessive disorders
Rare Both members of gene pair are affected Affects both genders One out of four will be affected Two out of four will be carriers Onset early Usually caused by a deficient enzyme Examples: PKU and Tay-Sachs
What is PKU?
-Mutation on chromosome 12 leads to an error in converting phenylalanine to tyrosine
-Appears normal at birth then fails to meet milestones
-Progressive neurological decline
-If untreated, can lead to severe intellectual disability
-Diagnosis
-Serum
phenylalanine at 3
days old
-Prenatal
screening:
amniocentesis,
chorionic villus
sampling
-Treatment
-Avoid high protein
foods
-Limited amounts
of starches
-Phenylalanine-
lowering agents
-Gene and enzyme
therapy
What is Tay-Sachs?
-Progressive disorder due to mutation of hexosaminidase A
-Necessary to
metabolize
certain lipids
-Lipids
accumulate,
destroying and
demyelinating
nerve cells
-Nerve cell
destruction leads
to a progressive
mental and
motor
deterioration
-Most are of Jewish decent
-Three forms: infantile, juvenile, adult (rare)
-Appears normal at birth, then the infant begins to miss milestones
-Progresses to seizures, muscular rigidity, and blindness
-Usually fatal by 5 years of age
-Diagnosis: history, physical examination, and low serum and amniotic hexosaminidase A levels
-No cure
-Genetic counseling suggested
Facts about sex linked disorders
- Sex-linked disorders are almost always X linked.
- Males have a 50% chance of getting the disorder from their mother.
- Females have a 50% chance of being carriers.
- All daughters of affected males will be carriers, but none of their sons.
- Example: Fragile X syndrome
What is Fragile X Syndrome?
- Associated with a single trinucleotide gene (FMR1) sequence on the X chromosome, which is repeated > 200 times
- Plays a role in synapse development
- Manifestations: long face with large mandible, large ears, large testicles, delayed mental development, learning disabilities, speech delays, connective tissue disorders, behavioral issues, and autism spectrum disorder
What are multifactorial inheritance disorders?
-Result from an interaction between environmental and genetic factors
-Less predictable
Extremely common
-May be expressed at birth or later
-Examples: cleft lip/palate, clubfoot, congenital dislocation of hips, congenital heart defects, pyloric stenosis, urinary tract malformations, diabetes mellitus, hypertension, cancer, and psychiatric disorders
What is cleft lip and palate?
-Improper formation of soft tissues of mouth and lips
-Unilateral or
bilateral
deformities lead
to feeding and
nutritional issues
-Maternal
smoking,
diabetes, and
seizure
medication use
(first trimester)
are important
risk factors
-Diagnosis: prenatal ultrasound
-Treatment: surgery, speech therapy
Facts about chromosomal disorders
- May be related to abnormality in chromosomal number and/or structure that occurs in meiosis
- Account for most early miscarriages
- More than 60 syndromes
- Most babies wont come to term
Aneuploidy
change in chromosome number
Monosomy
one chromosone
Polysomy
any more than 2 chromosomes
trisomy
3 chromosomes (eg. down sydrome)
Down syndrome
Change at chromosome 21 (3 of them)
Turner syndrome
Just one X at 45
Klinefelter Syndrome
XXY gives you 47 (1/500 births)
