EXAM1✅ Flashcards
Ischemia
an inadequate blood supply to an organ or part of the body, especially the heart muscles.
Hypertrophy
Working out,increase size of cells.
(Ex: physiologic hypertrophy-exercise- pathologic hypertrophy -disease-, compensatory hypertrophy -enlargement of remaining organ when part removed-)
Hyperplasia
Increased # of cells in organ or tissue
(Ex: epidermis, intestinal epithelium) occurs when responding to a stimulus or ceases when stimulus is removed)
(Ex: hormonal: breast enlaarges due to increase of hormones)
(Ex: compensatory: regeneration of liver after hepatecomy)
(Ex: non-pathologic: not related to hormonal
Metaplasia
When cells have been exposed to an excess irritant overtime; cells changes overtime. (This occurs in aduts, not children) its reversible (doesnt cause cancer, if prevented early)
Ex::smoking
Dysplasia
Higher chances of cancer. Theres a stronger implication of cancer with dysplasia than metaplaysia.
(Usually found in respirator tract and cervx)
Intracellular accumulations
Substances that are not easy to get rid of/eliminate: lipids, proteins, carbohydrates, melaanin, bilirubin
External factor: tatoos
Other pathologic process: metabolic errors(tay-sachs- disease)
Necrosis
the death of most or all of the cells in an organ or tissue due to disease, injury, or failure of the blood supply.
Hypoxia
Cell deprived of O2. Hypoxia causes cells to revert to anaerobic metabolism,
Gangrene
Death of large portion of tissue
Epigenetics
The study of changes in gene expression due to age, envronment, lifestyle, and disease state
Chromosome disorders
Changes in the# oor structure of chromosomes
Autosomal dominate
Ex:HH
A single gene disorder, where Only ONE gene is dominate. No carrier state (either have it or dont), signs and symptoms often occur later in life (older age).
Can be inhertieted from one of parents but in rare cases, develop spontaneously.
50/50 chance offspring can get it. (Ex: hunington’s disase and Marfan syndrome)
Marfan syndrome
An autosomal domainat disorder, 1/20k prevelance. Effects ocular system (eyes), skeltal system, and cardiovascular system.
(Long thin body& long extremities and long dfingers, depressed strenum(pectus excavatum), pigeon chest, weakness of the aorta)
Huntington disease
An autosomial dominate disorder; cause pregessive brain damage, jerky movements, wide gait, dementia, disability andd eventually death; no cure only treat
Autosomal recessive
A single gene disorder. The oposite of autosomal dominate…If you have recessive trait, you you cant sshow it unless you have both recessive trait (ex: aa)
Bothe parent can ghave the dsease (carriers) and not show it and their child has it.
Symptoms start earlier in life.
cuased by impaaired or eleiminatioed function of an enzyme.
(PKU, hyperphenylanemia, ay-Sachs disease, Cystic fibrosis, sickle cell anemia, Thalassemia major)
Consanguineous mating
Mating of two individuals, inbreeding increases chances of the two people that would mate will be carriers
Ex: cystic fibrosis, sickle cell anemia, thalassemia major, taysachs dx.
Phenylktonuris (PKU, hyperphenylalanemia)
Autosomal recessive; high leves of phenylanin that are toxic to the brain. LEADS TO BRAIN DAMAGE.
Most cases is when it lacks an enzyme (phenylaanin hydroxylase-PAH- a liver enzyme) that converts phenylalnine to tryosine.
1/10,000 in whit and asian poopulation , 1/4,500 ireland, 1/100,000 finland.
-shows in infants within a fewweek after birth,impaed brain development.
-seizures-eczema
Mental retardation in untradt infants
- DECREASE PIMENTATION OF HAIR AND SKIN,
-require strick diet (limit the intake of proteins and artificial sweetners)
Tay-Sachs disease
A genetic mutatio that causes insufficient amout of beeta-hexos-amindase A (stimiulates the break down of fatty acids called GANGLIOSIDES)
-This type of fatty acid builds up in the nerve tissues of the brain which causes BRAIN DAMAGE.
Typically occurs in Jews, easter european, 1/30
Children may have normal development for a few months, but the regress
Blindness, deaf, inability to swallow, inabaility to swallow, parylysis, seizures, coma, and death.
Prognosis: generally fatal by age
Cystic Fibrosis
blockage of chloride ions and water from moving in and out of cells in the lungs, pancreas, colon, and GU tract.
CREATE STICKY MUCOUS
Infants maay hav obstructed colon at birth, recurrent sinus and lung congestion, infections, bad absorption syndromes, anemia, diabetes , infertility
Prognosis: treatments extended life expentacy. (Can live up to 40 or 50, depnding on person)
Sickle cell anemia
Mutatio of Hgb gene; substitues valine for glutamic acid in Beta chain. Causes stiff mallformed RBC’S
Common in Malaria areas.
Increase risk of embolism; blocks blood flow to the tissues
Weakness, heartattacks, cerebral accident.
Prognosis: medication, oO2, blood transfussions to extend lives.
Thalassemia major
deficient amount of RBC’s, fragile.
Deletion of a locus for alpha or beta globin on chromosome 11.
Deletion of Alpha is common in asians and africans
Beta is common in italians and greeks.
Anemia, fatigue, weakness, shortness of breath, bone pain, and failure to thrive.
Prognosis: frequent blood transfussions, bone marrow transplant, meds to reduce iron toxicity cused by frequent blood transfussions.
X-Linked disorders
Sex linked disorder. Mostly associated with X-factor (Female chromosome). Acts as a recessive disorder. Female heterozygotes rarly experience effects of the gene. All males who get them are typically affectedd. If male gets the X chromosome, hes affected. If the female gets it, shes going to get it if both of her X chromosomes have it
Pattern of inheritance: female typically has one normal and one mutant,
so 50% chance of transmitting defective gene to sons, and dtrs have
50% chance of being carriers, affected son transmits defective gene to
all dtrs, none to sons • Ex: hemophilia (bleeding disorder), color blindness
Hemophilia
A X-linked disorder. Inherited or spontaneous mutaion of genes that control proteins in the CLOTTING process.
A defincincy of factor VII.
Deficiency in clotting factors, cause a failure ot produce thromi (clotting) after injury
S&S: excessive bleeding, hematomas, hemorrhage, bleeding into joints.
Prognosis: treat with somethjing that will so they wont bleed to death after an ijury or surgery. Can be fatal.
Alot of times, people dont know that they have this probrlem. Only if they know their parents have it.
Genomic imprinting
Disease that do not follow mendelian pattern of inheritance.
Expression of dx (diagnosis) depends on if mother or father gave the offspring the gene.
If mother gave the gene: ANGLEMAN (happy puppet)
If father gave the gene: PRADER-WILLI
Multifactoral inheritance (threshold disorder)
Two or more genes or gene loci influence trait expression, but environmental triggers can effect how trait is expressed. Can be seen when the baby is born, or later on in life.
Ex: heart disease,
high blood pressure/hypertension (hTN)
Alzheimer’s disease,
arthritis,
diabetes, bipolar or any psychiatric disorders
cancer, and.
obesity.
CAD (coronary aretery diseasse)-you can have multiple. Factors/traits that will develop inot CAD, as to somone who eats well or excessive eating…but they can stil develop it less likely.
Congenital multifactoral disorders
Cleft lip/Palate • Clubfoot • Congenital dislocation of hip • Congenital heart disease • Urinary tract malformation (A pathogen can cause it, terategen)
Cleft lip/palate
Starts the 35th day of preganancy. Caused by teratogens. A hole in palate an malfunction of the lips. Makes it hard for the baby to eat.
Causes spee and swallowing problems can do surgery to close lip after 3months and close palate after 1 year
Chromosome disorders
Changes in chromonsome can causes disruptions in normal body structure and function
MAJORITY ARE MISCARRIED EARLY.
Sometimes the chromosomes mutate or change themselves and the body cannot fix themselves.
Trisomy
Is a type of alteration in number of chromosomes. 3 copies of chromosomes instead of two. (Ex: having an extra X…XYX)
Ex: down sydrome, trisomy X (Female), Kline-felter’s syndrome (males).
Monosomy
A type of alteration in the # of chromosomes. 1 chromosome is present.
Meanining the other chromosome didnt develop or not working
USUALLY FATAL TO EMBRYO; not all the time.
Ex:turners syndrome
Alterations in structure of chromosomes?
- deletion (loss of a portion of chromosome/Cri du chat syndrome)
- Duplication (portions are reproduced. Can result in mental retardation)
- Translocation (genetic info on WRONG location of chromosome or WRONG chromosome.)
- Fragile. Sites (easily brocken genetic material/fragile X)
Down
Down syndrome
Chromosome Disorder; Trisomy at cromosome 21. Women over 45 have 1/25 of having baby w/ down syndrome. Oocytes hve chnaged ddue to aging and environmental exposures
S&S: mental retardation, growth delay, flattened facial profile, fat pad back of neck and multiple abnormalites.
Progonosis: can live a full life with proper support; more
prone to lukemia & alzeimer leter in life.
Can screen 13 weeks during pregnacy ; test not 100%
Uses the Gold standard chromosome anaylis to tests (requires drawing blood)
Turner syndrome
Chromosome disorder; An absence of all or part of one female chroosome. 1/5000 births are affected; almost all fetus with this spontaneously abort during 1st trimester without them knowing. Can live, but will have complications
S&S” short stature, abscence of ovaries, no menstration, no secondary sex charactersitics, webbing of neck, skin folds, congential heart defect, bicuspid aortic valve, and many others.
DIAGNOSIS IS SHOWN IN LATE CHILDHOOD/EARLY ADOLESCENCE
Treatment is emotional support, growth hormone and estrogen.
Prognosis: increased morbidity due to cardiovascular, GI, RENAL, endo disorders
Klinefelter syndrome
Condition of testicular dysgenesis due to to one or. More extra X chromosome (XXY) MOST MEN have 1 extr X (47XXY). One ofthe most common genetic conditions known.
S&S: enlarged breast, sparse facial and body hair, small tesstes, inability to produce sperm, meale phenotype restrained.
Usually dected trhough puberty when testes dont respond to gonadotropins
Tall stature, loower body is longer than upper part, FEMININE pitched voice and langage impairment.
Teratogenic agents
An environmental agent that produces abnormalities during embryonioc and fetal developmment.
Mutagenic effects of environmental agent causing permanent damage to maternal/fraternal reproductive cells.
-Radiation
-chemical/drugs
-medications (highest incidence of teratogen… ex: warfarin, chemo agents, thalidomide
-alcohol (Fetal alcohol syndrome)
-infectious agents (torch… toxoplasmosis, ther agents, rubella, CMV, herpes)
-nutrient deficiencies (folic acid is givem to ppregnant women (400mcg daily)
Radiation
Teratogenic and mutagenic
Iccrocephaly, skeletal malformation, intelectual disabilitu
Fetal Alcohol Syndrome (FADs)
4000-6000 babiees each year born with this.
Microcephaly (smallhead), flat nasal bridges, short nose, small chin.
Excessive drinking prior to conception.
Idiopathic
Unknown cause of disease
Pathogenesis
how the disease evolve
Etiology
What sort of toxin caused it?/ex: E coli causes UTI
Bacteria, virus, poison, alcohol
Congenital
Defects person since birth
Caused by genetic influences, environmental, and maternal drug use.
Acquired defects
Defect that happen AFTER birth, not present during birth.
Injury, exposure, inappropriate immune response.
Ex: knee injury
Sub clinical/pre-clinical stage
Disease present but patient unaware.
Prodromal stage
Something is there, but not sure. Vague, non specific
Cinical stage
Diagnose is clear; or disease is evident (obvious)
Stages of disease?
Subclinical/preclinical
Prodromal stage
Clinical
Signs
Measurable, objective, observed.
Symptoms
What the patient is. Feeling (subjective).
Sydrome
Sydrom is disease; complication of signs and symptoms
Complications
Adverse effect of disease or treatment ex: blood clots after surgeery.
Sequela
Lesions or impairments caused by disease
Specificity
Proportion of people who do not have the disease, NEGATIVE on a given test.
Sensitivity
Portion of people who do have the disease, test POSITIVE.
EPIDEMIOLOGY
The study of disease occurence in the population. How we look at the disease patterns? How do we prevent the spread ?
-informationon disease process. Who gets the diseaaase? What are the risk factoors
Incidence
the rate of new cases of a disease occurring in a specific population over a particular period of time. # new cases/people at risk or poplation
Prevalance
exisiting case/current population
is the proportion of people with a particular disease during a given time period. AKA OLD CASES
Prevalence is a useful measure of the burden of disease. Knowing about the prevalence of a specific disease can help us to understand the demands on health services to manage this disease.
Prevalence changes when people with the condition are cured or die
Natural history
Outcome of a dissease without medical intervention
What would happen if left untreated?
Prognosis
Refers to the probable outcome and prospect of recovery of a disease.
The full recovery, complications, survival tme, treatment options.
Genetics
The study of genes
Gene
Segments of DNA. Sequence that encodes proteins (a set of functional products)
Appearance, function of cell, sesceptbilit to disease, influncee response to drugs,
Gene mutations
Accidental errors in duplication
• Rearrangement of genetic code
• Deletion of parts of genetic code
Most are corrected by DNA repair mechanisms in the cell
Genotype
The blueprint of your genes. Genetic info of a person store in the base of the triplet code.
Polygenic inheritance
Involves multiple genes at different location each with a smal addictive effect in determining trait
Ex: Multiple genes that cause a phenotype; ex multiple eye colors is shown in a person eye
Multifactorial inheritance
multiple genes at different locations affect
outcome, environment also affects outcome
Multiple genes, plus the environment that causes that expression.
Ex: skin color… summertime get dark, because the sun (environment) changed the skin color, but in winter, skin gets lighter, because there’s not much sun. (Environment ).
Progeria
Mutation if LMNA gene ;RAPID AGING PROCESS (think about Adele rose)
Born normal, stat aging at 18-24 months (growth failure). Cad, CVA, usually death by 13.
Adult progeria
(Werner syndrome) Mutation of LMNA gene
Changes in chromosome 8; onset during late teens life span 40-50
