Pathophysiology Exam 1

etiology

the root cause or origin of a disease

pathogenesis

the step by step development and progression of a disease

homeostasis

dynamic steady state

feedback control

positive/negative; regulate deviations from normal

examples of positive feedback

childbirth, blood clotting, milk production/breastfeeding

examples of negative feedback

temperature regulation, blood pressure, blood glucose

positive feedback

amplifies the change

negative feedback

counteracts the change

disease state

severe disturbance to homeostasis

reversible injury

functional adaptations

irreversible injury

cell death

pathophysiology

study of disease process

what are the 3 parts of pathophysiology

etiology, pathogenesis, clinical manifestations

etiology factors

genetic make-up, environmental factors, interactions-epigenetic change

iatrogenic

condition caused by medical error or drug induced

idiopathic

condition has unknown cause

pathogenesis

development of a disease; describes the chains of events leading to the disease

clinical manifestations

what is observed or reported

sign

objective manifestations (something measurable/testable)

symptoms

subjective feelings

syndrome

collection of signs and symptoms occuring together

disease

defined by a clear underlying cause and is measurable through distinct diagnostic tests and physical markers

disorder

a general disruption to regular bodily or mental functions; often used in mental health

parkinsonism syndrome

a syndrome typically found in individuals with parkinson disease, resulting from deficiency of dopamine in certain parts of the brain

disease processes

acute (short course) vs chronic (long acting)

latent period

between exposure and 1st signs and symptoms; incubation time

prodromal

appearance, 1st signs and symptoms

manifest illness

acute, full intensity

subclinical

normal function, disease process established

exacerbation

symptoms worsen or reappear

remission

disappearance of signs and symptoms

convalescence

recovery

sequelae

after effects or another condition

complication

arises secondarily

treatment

based on etiologic process, pathogenesis, clinical manifestations

prevention

manaing susceptibility, early detection and management of disease, alleviate disability and restore effective functioning

epidemiology

study of disease patterns

risk

number who experience event divided by toato number at risk

odds

number who experience divided by number who do not

risk ratio vs odds ratio

one group compared to another

endemic

native/confined to a local region

epidemic

spreads to many individuals at the same time; unexpected increase in the number of disease cases in a specific geographical area

pandemic

epidemics that affect large geographic regions

enzootic

affecting animals within a limited region

epizootic

suddenly and temporarily affect many animals over a large area

zoonoses

diseases of animals that can be transmitted to humans

chromosomes

where genetic information is stored

what does chomosome notation indicate

the chromosome, arm, region, band, and sub-band where a gene is located

what does the “q” mean in chromosome notation

the long arm of the chromosome

what does the “p” mean in chromosome notation

the short arm of the chromosome

what does 7q31.2 mean

chromosome 7, long arm (q), region 3, band 1, sub-band 2

where is the CFTR gene located

7q31.2

what is the CFTR gene

gene that control cystic fibrosis

what is meiosis

cell division involved in gametogenesis that produces cells containing 23 chromosomes

what is the chromosome number of a human gamete

23- haploid

what is the chromosome number of a human zygote

46- diploid

what is the major purpose of mitosis

proliferation of cell populations

what happens to chromosomes during mitosis

they replicate, and each daughter cell receives a copy of DNA indentical to that of the parent cell

what is crossing over

the reciprocal exchange of genetic material between paternal and maternal genomes during meiosis I

do the X an Y chromosomes normally undergo recombination

they do not, only at their tips/pseudo-autosomal regions

what are pseudo-autosomal regions

common regions of the X and Y chromosomes containing similar genes that allow the chromosomes to pair during meiosis

how do genes in pseudo autosomal regions behave

like autosomal genes in inheritence

what are examples of altercations that can occur in genetic material

transition, transversion, deletion, and substitution

can genetic mutations occur spontaneously

yes

what environemental exposures can contribute to genetic altercations

radiation, chemicals, and drugs

what are some causes/categories of genetic disorders

single-gene traits, chromosomal defect, polygenic traits, multifactorial events

what are polygenic traits

traits involving multiple genes located on more than one chromosome

example of polygenetic traits

eye color and fingerprints

what is multifactorial inheritance

the additive effects of mamy abnormal genes and environmental factors

do multifactorial disorders tend to run in families

yes

examples of multifactorial disorders

obesity, hypertension, athersclerosis, and diabetes

what does congenital mean

present at birth

are all congenital disorders genetic

no, potential endocrine disruption

what is mendielian genetics

inheritance involving single genes that are randomly and independently transmitted to offspring

what is the chance of receiving one or the other allele from a parent

50/50

what are mendelian traits

traits passed down through dominant and recessive alleles of one gene

what does an autosomal dominant trait require for expression

only one allele of the homologous pair

can an autosomal dominant phenotype occur in a heterozygous individual

yes

can an autosomal dominant phenotype occur in a homozygous individual

yes

what does an autosomal recessive trait require

expression of both alleles, meaning the individual is homozygous recessive

what types of proteins are commonly affected by autosomal dominant disorders

strucutural proteins and receptors

what type of defect is common in many autosomal recessive disorders

enzyme defects

what are sex linked traits

traits passed through the sex chromosomes

what is an X-linked dominant disorder

a disorder caused by a dominant allele on the X chromosome

who can be affected by X-linked dominant disorders

both males and females

what is an example of an X-linked dominant disorder

fragile X syndrome

what is an X-linked recessive disorder

a disorder caused by a recessive allele on the X chromosome

why are X-linked recessive traits commonly seen in genetic males

they only have one x chromosome, so they lack a second x chromosome carrying a matching normal allele

can a father pass an X-linked trait directly to his son

no, fathers give sons a y chromosome

can a father pass an x-linked trait to his daughter

yes, daughters receives their father’s X chromosome

when is an x-linked recessive phenotype typically expressed in females

when the x-linked alleles are homozygous

why can heterozygous females show varying manifestations of x-linked traits

because of random x-inactivation

what is x-inactivation

a mechanism of dosage compensation that reduces the effects of having two X chromosomes compared with one

what is the inactive x chromosome called

a Barr body

is the x completly inactive

no, about 15% of X chromosome genes escape inactivation

is x-inactivation random

yes

which x chromosome can initially become inactive

either the maternal or paternal X chromosome

what happens to the x-inactivation pattern after it is established

it becomes fixed and is passed to daughter cells

what are females considered mosaics for X-linked genes

different cells may have different X chromosomes inactivated

why is x-inactivation clinically important

it can affect the phenotypic expression of x-linked traits in heterozygous females