Patho/Pharm Exam 1 Study Guide-- Patho
Cleft lip and palate
35th day of gestation; can be unilateral or bilateral
Mechanisms of cell injury
Free radical formation, hypoxia and ATP depletion, disruption of intracellular calcium homeostasis
Infectious agents-- teratogenic
TORCH (toxoplasmosis, other, rubella, cytomegalovirus, herpes); chickenpox, listeria, leptospirosis, Epstein-Barr virus, TB, syphilis, HIV
Mutation
a biochemical event such as a nucleotide change, deletion, or insertion that produces a new allele for a particular gene
Recombinant DNA
a combination of DNA molecules that are not found together in nature
Pedigree
a graphic method for portraying a family history for an inherited trait
Prevalence
a measure of existing disease in a population at a given point in time
RNA interference
a naturally occurring process in which small pieces of double-stranded RNA suppress gene expression
Ultrasonography
a noninvasive diagnostic method that uses reflections of high-frequency sound waves to visualize soft tissue structures
Carrier
a person who is heterozygous for a recessive trait
Autosomal dominant disorders
a single mutant allele from an affected parent is transmitted to an offspring regardless of sex (50% chance of transmission to each offspring); unaffected offspring do not transmit; includes Marfan syndrome and neurofibromatosis
Fragile X syndrome
a single-gene disorder that causes intellectual disability; affected males intellectually disabled with distinct physical phenotype, affected females more likely to have normal cognitive development with learning disability in particular area
Pathologic calcifications
abnormal tissue deposition of calcium salts, together with smaller amounts of iron, magnesium, and other minerals
Congenital defects
abnormalities of a body structure, function, or metabolism that are present at birth
Chromosomal disorders
account for large proportion of early miscarriages, congenital malformations, and intellectual disability
Wet gangrene
affected area is cold, swollen, and pulseless, skin is moist, black, and under tension, blebs form on surface, liquefaction occurs, foul odor caused by bacterial action; rapid spread
Dry gangrene
affected tissue becomes dry and shrinks, skin wrinkles, color changes to dark brown or black; slow spread
Factors affecting adaptation to stressors
age, health status, psychological resources, rapidity with which the need to adapt occurs, availability of adaptive responses and the ability of the body to select the most appropriate response
Clinical practice guidelines
algorithms, written directives, combination of algorithms and written directives
X-linked recessive disorders
almost always associated with X chromosome and inheritance pattern in predominantly recessive, meaning all males who receive the gene are typically affected as they only have the mutant X copy in their XY sex chromosome (unaffected carrier mother-- daughters 50% carriers, sons 50% affected); includes color blindness, hemophilia A, x-linked agammaglobulinemia
Structural chromosomal abnormalities
alterations to the structure of one of more chromosomes causing a chromosomal disorder; includes deletion, inversion, translocation, Robertsonian translocation, isochromosomal translocation, and ring formation
Disease
an interruption, cessation, or disorder of a body system or organ structure
Percutaneous umbilical cord blood sampling
an invasive diagnostic procedure that involves the transcutaneous insertion of a needle through the uterine wall and into the umbilical artery; used for prenatal diagnosis of hemoglobinopathies, coagulation disorders, metabolic and cytogenic disorders, and immunodeficiencies
Aminocentesis
an invasive diagnostic procedure that involves the withdrawal of a sample of amniotic fluid from the pregnant uterus usually using a transabdominal approach
Chorionic villus sampling
an invasive diagnostic procedure that obtains tissue that can be used for fetal chromosome studies, DNA analysis, and biochemical studies; usually done after 10 weeks gestation (transabdominal or transcervical)
Programmed cell death
apoptosis; eliminates cells that are worn out, have been produced in excess, have developed improperly, or have genetic damage
Genetic assessment
assessment of genetic risk and prognosis; detailed family history, pregnancy history, detailed accounts of birth process and postnatal health and development
Linkage studies
assume that genes occur in a linear array along the chromosomes and that the closer together two genes are on the same chromosome, the greater the chance they will be passed on together to offspring (when two inherited traits occur together at rate greater than chance, said to be linked)
Etiologic factors
biologic agents, physical forces, chemical agents, nutritional excesses or deficits
Disease case
can be either an existing case or the number of new episodes of a particular illness
Folic acid deficiency
can lead to birth defects, notably neural tube defects
Single-gene disorders
caused by a defective or mutant allele at a single gene locus and follow Mendelian patterns of inheritance; autosomal dominant, autosomal recessive, and x-linked recessive disorders
Down syndrome (trisomy 21)
caused by nondisjunction or an error in cell division during meiosis, resulting in a trisomy of chromosome 21 (95% of the time) or a robertsonian translocation involving long arm of chromosome 21q and long arm of an acrocentric chromosome; characteristics include intellectual disability, characteristic facial features, and other health problems (numeric disorder involving autosomes)
Multifactorial disorders
caused by the influence of multiple genes along with environmental factors, so pattern of inheritance is not as clear-cut; includes cleft lip or palate, clubfoot, congenital dislocation of the hip, congenital heart disease, pyloric stenosis, and urinary tract malformation
Necrosis
cell death in an organ or tissues that are still part of a living person; often interferes with cell replacement and tissue regeneration
Cellular adaptation
cells adapt to changes in the internal environment; change in size, number, or form
Teratogenic agent
chemical, physical, or biologic agent that produces abnormalities during embryonic or fetal development; three ways to cause birth defects (direct exposure to mother and fetus, exposure of pre-pregnant mother to agent with slow clearance rate, mutagenic effects of environmental agent before pregnancy that damages reproductive cells)
Case-control studies
compare case subjects to control subjects
Studies to determine risk factors
cross-sectional studies, case-control studies, cohort studies
Gene cloning
cutting a DNA molecule apart, modifying and reassembling its fragments, and producing copies of the modified DNA, its RNA, and its gene product
Impaired calcium homeostasis
cytosolic calcium levels kept low by energetic mechanisms; ischemia-induced calcium disruption, inappropriate activation of enzymes
Atrophy
decrease in cell size
Hypoxic cell injury
deprives cell of oxygen and interrupts oxidative metabolism and the generation of ATP
Dysplasia
deranged cell growth of a specific tissue
Morbidity
describes the effects an illness has on a person's life; concerned with the incidence, persistence, and long-term consequences of disease
Diagnosis
designation as to the nature or cause of a health problem
Secondary prevention
detecting disease when still curable (pap smears)
Chemical injury
drugs, carbon tetrachloride, lead toxicity, mercury
Classification of gangrene
dry or wet
Types of pathologic calcifications
dystrophic and metastatic
Exogenous products
environmental agents and pigments not broken down by the cell
Aspects of disease process
etiology, pathogenesis, morphologic changes, clinical manifestations, diagnosis, clinical course
Injury from nutritional imbalances
excesses and deficiencies
Genetic mapping methods
family linkage studies, gene dosage methods, hybridization studies
Maternal serum markers
first trimester screening between 11 and 13 weeks combining nuchal translucency seen on sonogram with PAPP-A level, hCG level, and maternal age to determine a risk for trisomy 21, 13, and 18
Mitochondrial gene disorders
generally affect tissues that are dependent on oxidative phosphorylation to meet high needs for metabolic energy; maternal inheritance; expression of disorder depends on proportion of mutant mitochondrial genes; includes encephalopathies, myopathies, retinal degeneration, deafness, liver dysfunction, diabetes
Genotype
genetic makeup/allele combination
Aneuplooidy
having an abnormal number of chromosomes; occurs when there is a failure of the chromosomes to separate during oogenesis or spermatogenesis (nondisjunction)
Heterozygous
having two different alleles for a given gene (Aa)
Homozygous
having two identical alleles for a given gene (AA or aa)
Radiation-- teratogenic
heavy doses of ionizing radiation
Factors derived by using epidemiologic methods
how disease is spread, how to control disease, how to prevent disease, how to eliminate disease
The Human Genome Project (1990-2003)
identified all the genes in the human genome; charged with both determining the precise locations of genes and exploring technologies that would enable the sequencing of large amounts of DNA with high accuracy and low cost
Cellular swelling
impairment of the energy-dependent Na+/K+ ATPase membrane pump, usually as the result of hypoxic cell injury (reversible)
Reversible cell injury
impairs cell function but does not result in cell death (cellular swelling and fatty change)
Calcium function
important second messenger and cytosolic signal for many cell responses
Causes of hypoxia
inadequate amount of oxygen in the air, respiratory disease, inability of the cells to use oxygen, edema, ischemia
Hypertrophy
increase in cell size
Hyperplasia
increase in number of cells
Causes of cell injury
injury from physical agents, radiation injury, chemical injury, injury from biologic agents, injury from nutritional imbalances
Gene therapy
insertion of genes into adenoviruses to treat genetic disorders like cystic fibrosis, certain cancers, and infectious diseases
Cohort studies
involve groups born approximately at the same time or who share some characteristics of interest
Radiation injury
ionizing radiation (breaks bonds creating free radicals), ultraviolet radiation, nonionizing radiation (vibrates and rotates atoms and molecules)
Fatty change
linked to intracellular accumulation of fat (reversible)
Free radical injury
lipid peroxidation, oxidative modification of proteins, DNA effects, reactive oxygen species
Normal body substances
lipids, proteins, carbohydrates, melanin, etc.
Autosomal recessive disorders
manifested only when both members of the gene pair are affected; both parents may be unaffected but are carriers of the defective gene, affect both sexes (25% for affected child, 50% for carrier child, 25% for normal child); includes phenylketonuria and Tay-Sachs disease
Injury from physical agents
mechanical forces, extremes of temperature, electrical forces
Chemicals and drugs-- teratogenic
mercurials, thalidomide, cancer treatment drugs, warfarin (anticoagulant), anticonvulsant drugs, ethyl alcohol, cocaine, propylthiouracil, tetracycline, retinoids (Vitamin A derivatives like accutane); categorized by FDA into categories A (least dangerous), B, C, D, and X (increasingly dangerous)
Numeric disorders involving sex chromosomes
more common than those related to autosomes with the exception of trisomy 21; includes Turner syndrome and Klinefelter syndrome
Three sources of intracellular accumulations
normal body substances, abnormal endogenous products, exogenous products
Dystrophic calcification
occurs in dead or dying tissue
Metastatic calcification
occurs in normal tissue
Gangrene
occurs when a considerable mass of tissue undergoes necrosis
Mortality
pertains to the causes of death in a given population
Phenotype
physical expression of a genotype
Fetal alcohol syndrome
physical, behavioral, and cognitive fetal abnormalities that occur secondary to drinking alcohol while pregnant
Tertiary prevention
preventing further deterioration or reducing complications of disease (antibiotics)
Levels of disease prevention
primary, secondary, tertiary
Primary prevention
removing risk factors so disease does not occur (immunizations)
Metaplasia
replacement of adult cells
DNA fingerprinting
restriction enzymes are used to break chromosomal DNA into fragments, which are then separated by gel electrophoresis, denatured, and transferred to nitrocellulose paper; DNA bands are labeled with radioactive probe and observed using autoradiography (forensic pathology applications)
Hybridization studies
somatic cell hybridization (fusion of human somatic cells with those of a different species to yield cell containing chromosomes of both species), in situ hybridization (chemically tagged sequences of DNA or RNA detect complementary gene location, hybridize, and remain at that precise location on a chromosome)
Genetic mapping
the assignment of genes to a specific locus or to specific parts of the chromosome
Intracellular accumulations
the buildup of substances that cells cannot immediately use or eliminate
Evidence-based practice
the conscientious, explicit, and judicious use of current best evidence in making decisions about the care of individual patients
Validity
the extent to which a measurement tool measures what it is intended to measure
Predictive value
the extent to which an observation or test result is able to predict the presence of a given disease or condition
Reliability
the extent to which an observation, when repeated, gives the same result
Incidence
the number of new cases arising in a population at risk during a specified time
Polysomy
the presence of more than two chromosomes to a set
Monosomy
the presence of only one member of a chromosome pair
Sensitivity
the proportion of people with a disease who are positive for that disease on a given test or observation (true positive)
Specificity
the proportion of people without the disease who are negative on a given test or observation (true negative)
Physiology
the study of body function
Cytogenetics
the study of chromosomal disorders
Etiology
the study of disease causes
Epidemiology
the study of disease occurrence in human populations; the study of factors affecting the health and illness of populations
Pathophysiology
the study of the body's response to dysfunction or disease
Abnormal endogenous products
those resulting from inborn errors of metabolism
Organogenesis
time period when differentiation and development of organs are taking place (day 15-60 after conception); period of vulnerability
Gene therapy approaches
transferred genes replace defective genes or transferred genes selectively inhibit the expression of deleterious genes
Prenatal screening and diagnosis
ultrasonography, maternal serum markers, amniocentesis, chorionic villus sampling, percutaneous umbilical cord blood sampling, cytogenetic and DNA analyses
X-linked dominant disorders
uncommon disorder where mutant X chromosome is dominant over normal X chromosome, affects both sexes (heterozygous affected females-- 50% regardless of sex, affected males-- 100% affected daughters and 100% normal sons)
Cross-sectional studies
use the simultaneous collection of information to classify exposure and outcome status
Natural history of a disease
used as a predictor of outcome for disease for which there is no effective treatment; information provides directions for preventative measures
Pharmaceutical applications of recombinant DNA technology
used in the manufacture of human insulin, erythropoietin, factor VIII, and tissue plasminogen activator (tPA)
Injury from biologic agents
virus, parasites, bacteria
