Exam 1 Flashcards
Disease
Any disturbance of structure or function of the body
Acute disease
quick, not as long (flu, broken leg)
Chronic disease
Progressive, has signs and symptoms, not as noticeable as an acute disease
Lesion
Characteristic structural changes in organs and tissues as a result of a disease
Structural (organic) disease
Associated with structural changes
- gross examination
- histologic examination
Functional Disease
No morphological abnormalities yet body functions are disturbed
How do you classify diseases?
they are either structural or functional
Are all diseases associated with structural or functional abnormality?
sometimes we do not know where it falls (depression)
Pathology
Study of structural and functional changes in body as a result of disease
Pathologist
Physician who specializes in diagnosing and classifying diseases by studying the morphology of cells and tissues
Clinician
Physician/health care professional that cares for patients
Pathogenesis
How a disease develops
Pathogen
Organism causing disease
Etiology
Cause of disease
Idiopathic
When you do not know the cause of a disease
Symptoms
Reported by patient, subjective
- pain
Signs
Measurable, objective
Asymptomatic
Without symptoms
Syndrome
Collection of clinical signs and symptoms
Health and disease is a _____.
continuum
Disease vs. Health
Presence or absence of a disease
- this does not refer to signs and symptoms
Normal vs. Abnormal
Determines whether disease is present by measurements and physical exam
Sometimes sick patients have normal test results
Prognosis
Predicted course and outcome of disease
- chances of completed recovery
- prediction of permanent loss of function
- probability of survival
Terminal
Diseases that end in death
Remission
When signs and symptoms subside; does not mean disease is gone
Exacerbation
Increase in the severity of signs and symptoms
Relapse
Disease returns after its apparent cessation
Complication
An abnormal state that develops in a person already suffering from a disease
Impacts that diseases have on a population
Prevalence - number of total cases at a given time
Incidence - number of new cases at a given time
Mortality - death
Morbidity - how bad it makes you feel
Epidemiology - the study of the occurrence, transmission, distribution, and control of disease
Classifications of disease
- Vascular - heart disease
- infectious (inflammatory) - flu, pneumonia, pink eye
- Neoplastic - cancer
- Degenerative (deficiency) - osteoarthritis
- Idiopathic
- Congenital - born with it
- Allergic (autoimmune) - type 1 diabetes
- Traumatic
- Endocrine - type 1 diabetes
- Metabolic - type 2 diabetes
Predisposing
Risk factors; NOT CAUSALITY
Predisposing factors of disease example
genetics, ages, gender, environment, lifestyle
Diagnosis
The use of scientific or clinical methods to determine nature and cause of disease
Factors utilized for diagnosis
Clinical history and the physical examination
Clinical history
A. Chief complaint
B. History of current illness
C. Past medical history (family health history & psychosocial sexual history)
D. Signs and symptoms
What are diagnostic tests utilized for?
- diagnosing disease
- monitoring treatment
- screening
- assessment of risk
- prognosis
- detection of complications
Accuracy
Are the results of the tests an indication of whats being measured?
Precision
Ability of test to provide the same result every time it is used.
Sensitivity
Ability of test to be positive in the presence of disease
- 99% sensitivity = positive that 99 out of 100 people have disease
- person has disease and test says they have disease
Specificity
Ability of a test to be negative in the absence of disease.
- person does not have disease and test says they don’t have disease
Evaluation of diagnostic tests
accuracy precision sensitivity specificity risk/benefit/cost ratio
Screening tests for disease: Purpose
- Detection for disease
- detect early asymptomatic diseases that can be treated to prevent or minimize late-stage organ damage - Screening for some genetic diseases
- to screen for carriers of some genetic diseases transmitted from parent
- allows affected persons to make decisions on future childbearing or management of current pregnancy
To be a successful screening test:
- Suitable groups for screening
- Suitable screening tests
- Benefits of screening
- Screening for genetic disease
False positive
When person doesn’t have disease but test said they may have it
False negative
When person has disease but the test said they did not
Classification of diagnostic tests and procedures
- Clinical laboratory tests
- blood/urine - Imaging techniques
- x-ray
- computed tomography (CT)
- magnetic resonance imaging (MRI)
- ultrasound
- positron emission tomography (PET) - Cytologic/Histologic examinations
- Tests of electrical activity
- Endoscopy/Laparoscopy
Clinical laboratory tests
Provides and interprets diagnostic testing related to patient care
- 60-70% of diagnosis relies on clinical tests
Qualitative
Describe quality, either positive or negative (either there or not there)
Quantitative
tests that have numerical results
Radiology =
imaging
types of radiology
- X-Ray
- differing absorption properties of tissues
ex. mammogram - Computed Tomography (CT)
- 3D xray
- good for imaging of internal organs
- cons: high dose radiation
Types of radiologic procedures
- Magnetic Resonance Imaging (MRI)
- uses movement of hydrogen atoms to generate image
- pros: does not use xrays, sensitive
- con: stay till for long time, tight space, loud sound - Ultrasound
- uses sound waves to view soft tissue structures; no radiation - Positron Emission Tomography (PET)
- radioactive material is injected into patient and then the patient is scanned to determine where the material has settled
Diagnostic procedures
- Endoscopy
- non-surgical technique examining interior of body with flexible tube with light - Laparoscopy
- surgical technique to examine structures within peritoneal cavity
- small incision made in abdominal wall; often naval
*both use flexible tube with light
Cytologic and histologic exams: techniques
- Biopsy (take tissue out)
- Fine Needle Aspiration (stick in needle and suck cells out)
- Collection of cells (ex. pap smear)
Palliative
Treatments designed to relieve and manage symptoms
ex. hospis
Organization of human body
Atoms, cells, tissues, organs, organ systems, organism
all cells ultimately come from
stem cells
Stem cells
ability to become various types of cells
- Totipotent = can become any cell in body as well as whole organism/cell of placenta
- Pluripotent = any cell, but cannot become organism/cell of placenta
- Multipotent = limited type of cell
Types of stem cells
Embryonic stem cell = pluripotent
Adult stem cell = progenitor cells
Progenitor cells
cells that can generate specialized cell; they are multipotent
All tissues originate from
all tissues originate from germ layers of inner cell mass of blastocyst
What are the 3 layers of the inner cell mass of the blastocyst
- Ectoderm (outside)
- nervous tissue, skin - Mesoderm (middle)
- muscle - Endoderm (inner)
- inner tracts (GI tract)
Atrophy
shrinkage, decrease in cell size due to…
A. physiological (aging)
B. pathological (decreased blood supply, nutrition, lack or neural or hormone support)
Hypertrophy
Increase in cell size due to…
A. hormonal stimulation
B. increased functional demand
Hypertrophy results in…
increased protein synthesis within cell and decreased protein breakdown
Hyperplasia
Increase in cell number due to…
A. hormonal stimulation
B. increased functional demand
C, Chronic stress
Hyperplasia results in…
increased cell division if the cell can divide
Metaplasia
replacement of one cell type with another
- most common in epithelium
- reversible is the stress is removed
Dysplasia
change in cell resulting in abnormal cell size, shape, or organization
- more severe than metaplasia
- premaligant
Free radicals
atom or molecule with unpaired electron
Cell injury: morphological changes
- Steatosis: fat
- Cell Swelling: cause is a lot of ATP, failure of Na/K pump –> sodium remains in cells..water follows and makes it swell
What is the exchange for the Na/K pump
3 Na out
2 K in
Cell death: Apoptosis
Programmed cell death or cell suicide
- removes cells that are worn out
- cell shrinks in on self
- removes unwanted tissue
- normal process/pathological
Apoptosis may be due to…
- signaling factor attached to “death domains” of cell surface receptors
- mitochondrial damage inside of cell
- DNA damage
What is the main organelle that initiates Apoptosis
mitochondria
Cell death: Necrosis
Unregulated death - “sledgehammer”
- cells swell and rupture and they damage nearby cells and inflammation is a result
outcomes of cell injury
reversible, adaptation (may be permanent), death of cell
is aging programmed into cells?
we do not know
is aging the result of accumulated damage
- older cells have more DNA damage
- older cells have more free radicals
- cells can lose their ability to repair their telomeres
Telomores
endcaps of chromosomes
Programmed Death-Telomeres
telomeres become too short; cell can no longer divide
Cellular aging indicators
Atrophy, decreased function and loss of cells
Tissue and systematic aging
progressive stiffness and rigidity (bone loss, less elastic CT)
Frailty
common clinical syndrome in older adults indicated functional decline, disability, disease and death
genotype
genetic info contain in DNA
phenotype
outward exp. of DNA (hair color, eye color)
Explain chromosomes
chromosomes exist in pairs, one derived from the male parent and one form the female parent; 46 total, 23 pairs
Types of chromosomes
- Autosomes: 22 pairs in humans, similar in size, shape and appearance; homologous (1 mom, 1 dad)
- Sex chromosomes
- genetic male = XY
- genetic female - XX
Gene
Fundamental unit of heredity
what is the functional product of gene
protein or RNA
how many genes in human genome
20,000; they can be dominant or recessive genes
Genes exist in ….
genes exist in pairs or alleles, one on each chromosome
Homozygous
both alleles are the same
Heterozygous
alleles are different
Genome
Sum total of all genes in a cell’s chromosomes
Human genome project
international collaboration of scientists that mapped nucleotide sequence of the entire human genome by determining the specific locations of individual genes
Genomics
study of gene structure to correlate gene structure with gene expression in individuals
Inheritance of genes of represented by ___.
Pedigree (it looks at genes inherited by offspring)
X-Chromosome Inactivation (Lyon Hypothesis)
Females = XX
Males = XY
- potential dosage problem
- Thus, one X chromosome is inactivated in all somatic cells, equalizing expression of X-linked genes
- *random –> paternal or maternal
- becomes barr body
- inactivation occurs early in embryonic life
Karotype
Studies the composition and abnormalities in chromosomes in terms of number and structure
To get a karotype…
cells must be stopped in metaphase
Chromosome smear
a layout of all 46 pairs of chromosomes
Genetic code
info carried by DNA
nucleotide
structural unit of DNA Bases: a. Purines (adenine, guanine) b. pyrimidines (thymine, cytosine) *complementary base pairing*
DNA replication: semiconservative
One strand of DNA is kept, and makes a new strand with complementary base pairing
bases of DNA are held by _____.
H+ bonds
Translation of DNA to proteins: Protein synthesis steps
- Transcription
- in nucleus
- unwinding of DNA, compl. base pairing to form mRNA
- form mRNA (AU, GC)
- exclusion of introns
- mature mMRA leaves nucleus and goes to cytosol where it joins up with ribosome for translation - Translation
- cytosol
- formation of protein
- need rRNA and tRNA
if you see a “u” in complementary base paring, what does that tell you?
it tells you it is an RNA
MicroRNA (miRNA)
regulate gene expression; acts post-transcriptionally, a type of noncoding DNA
miRNA interacts with
miRNA interacts with mRNA and inhibits translation of mRNA
**implicated in many diseases
mitochondrial genes and inheritance
mitochondria contain own DNA (mtDNA), mitochondria inheritance is from the mother
- hereditary diseases resulting from mitochondrial DNA mutations heterogeneous (ATP synthesis)
not all mature cells are able to divide such as
cardiac, skeletal muscle, nerve cells
Mitosis
Somatic cells only
- somatic cells onlyq
- each somatic cells contains 46 chromosomes (1-22 auto.)
- no reduction in DNA
- each of 2 new daughter cells receives identical DNA as in the parent cell
Meiosis
Germ cells only
- intermixing of genetic material between homologous chromosomes
- DNA reduced by half
What are the 2 separate divisions of meiosis
Meiosis 1: reduces number of chromosomes by half
- daughter cells receive half of chromosomes by each parent cell
- chromosomes are not exact duplicates of those in parent cell
Meiosis 2: similar to mitosis, but each cell contains only 23 chromosomes
Gametogenesis
process of forming gametes (egg and sperm)
- takes place in gonads (ovaries, testes)
Gametogenesis: types
Spermatogenesis: making of sperm
Oogenesis: making of eggs
*both have similarities and differences
Spermatogenesis
4 spermatozoa formed from each germ cell
- Spermatogenesis occurs continually once male begins puberty
Oogenesis
1 ovum formed from each precursor cell discarded as polar bodies
- oocytes not produced continually (form in utero)
- Oogenesis discontinues
- 1 egg/month
Single nucleotide polymorphisms (SNPS)
Structural variations in single gene nucleotide of different individuals
- 10 mil. SNPS in human genome
basically, a change in one nucleotide
Single nucleotide polymorphisms (SNPS) affect gene functions resulting in individual differences in body functions such as:
a. How rapidly cell inactivates drug or environmental toxin or repairs DNA damage
b. variations in responses to food, antibiotics, or drugs
c. ability to detoxify potential carcinogens or susceptibility to cancers
Epigenetics
refers to all heritable changes in gene expression and chromatin organization that are independent of the DNA sequence itself
- normal regulation in human development and cellular differentiation
- can switch genes on or off
DNA = ___, Epigenetics = ____
hardware, software
Epigenetics mechanism: DNA methylation
Adds methyl group to DNA on cytosine nucleotide located next to a guanine nucleotide (CpG cite)
- methylation leads to gene silencing
- when you methylate gene is decreases transcription
Gene imprinting
For some traits, expression of the phenotype depends on whether the allele is inherited from the mom or dad
- gene is maternally imprinted, the copy of the imprinted gene from mother is always turned off
- reversible
- may be a problem if mutation on gene is not imprinted
How many genes are thought to be imprinted?
only 60-100 genes
Imprinting is a specific example of what?
methylation
X-Inactivation turns off entire chromosomes, while imprinting…
turns off specific genes
Gene therapy
delivery of therapeutic gene into a patients target cell; functional proteins are created returning cell to normal
Congenital
Abnormality present at birth, even though it may not be detected until some time after birth
Congenital malformation
intrinsic defect in development of baby; genetic, environment or both
*abnormal all the way through birth
Congenital deformation
abnormal external force, often occurs due to intrauterine pressures; common in twins because the womb is crowded
Congenital disruption
secondary destruction in tissue that was previously normal; starts normal, something goes wrong
hereditary or genetic disease
resulting from a chromosome abnormality or a defective gene
Hereditary and congenital malformations: causes
- chromosomal abnormalities
- abnormalities of individual gene
- intrauterine injury to embryo of fetus
- environmental factors
What percent of all newborn infants have congenital diseases?
2-3%
Causes of intrauterine injury
- Teratogens
- Radiation
- Maternal infections
Teratogens
harmful drugs and chemicals; drugs rated A, B, C, D, X by FDA
3rd - 8th week after conception…
embryo is most vulnerable to injury as organ systems are forming
what does TORCH stand for?
Toxoplasma = parasite Other Rubella = virus Cytomegalovirus Herpes Simplex Virus
fetal alcohol syndrome
1: 1000 births; mom consumes alcohol (how much determines the severity
- fetal growth restriction, CSN abnormalities, distinctive facial features
Genetic disorder
disease caused by abnormalities in DNA