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NURS 6501 - ADVANCED PATHOPHYSIOLOGY
2026 COMPLETE
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How are cells specialized? - CORRECT ANSWER >>> through the process of differentiation or maturation What are the eight specialized cellular functions? - CORRECT ANSWER >>> movement, conductivity, metabolic absorption, secretion, excretion, respiration, reproduction, and communication What are the three general components of an eukaryotic cell? - CORRECT ANSWER >>> the plasma membrane, the cytoplasm, and the intracellular organelles. What causes the release of lysosomal enzemes? - CORRECT ANSWER >>> Cellular injury causing cellular self-digestion What is the location and function of the nucleus? - CORRECT ANSWER >>> the largest membrane-bound organelle and is found usually in the cell's center. The chief functions of the nucleus are cell division and control of genetic information. What is Cytoplasm? - CORRECT ANSWER >>> an aqueous solution (cytosol) that fills the space between the nucleus and the plasma membrane. What is the endoplasmic reticulum and what does it specialize in? - CORRECT ANSWER >>> a network of tubular channels (cisternae) that extend throughout the outer nuclear membrane. It
specializes in the synthesis and transport of protein and lipid components of most of the organelles What is the Golgi complex and what does it do? - CORRECT ANSWER >>> a network of smooth membranes and vesicles located near the nucleus. The Golgi complex is responsible for processing and packaging proteins into secretory vesicles What are lysosomes and what do they do? - CORRECT ANSWER >>> saclike structures that originate from the Golgi complex and contain digestive enzymes. These enzymes are responsible for digesting most cellular substances to their basic form, such as amino acids, fatty acids, and carbohydrates What are peroxisomes? - CORRECT ANSWER >>> involved in the production and breakdown of hydrogen peroxide Importance of proteins in disease - CORRECT ANSWER >>> The major workhorses of the cell, if misfolded they can cause diseases What are mitochondria responsible for? - CORRECT ANSWER >>>. Mitochondria contain the metabolic machinery necessary for cellular energy metabolism (Makes ATP). What is the cytoskeleton? - CORRECT ANSWER >>> the "bone and muscle" of the cell. The internal skeleton is composed of a network of protein filaments, including microtubules and actin filaments (microfilaments). What is the plasma membrane? - CORRECT ANSWER >>> encloses the cell and, by controlling the movement of substances across it, exerts a powerful influence on metabolic pathways What is signal transduction? - CORRECT ANSWER >>> The transfer of molecular signals from the exterior to the interior of a cell. If not done apoptosis occurs
What is catabolism? - CORRECT ANSWER >>> the energy-releasing process of metabolism What is passive transport? - CORRECT ANSWER >>> The movement of materials across the cell membrane without using cellular energy, water and small electrically uncharged molecules, done through osmosis What is oxidative phosphorylation? - CORRECT ANSWER >>> occurs in the mitochondria and is the mechanism by which the energy produced from carbohydrates, fats, and proteins is transferred to ATP. What is endocytosis and exocytosis? - CORRECT ANSWER >>> Endo= into the cell (engulf). Exo= out of the cell (excrete). What is active transport? - CORRECT ANSWER >>> requires the cell to expend energy (by means of ATP) to move larger molecules and molecular complexes What is pinocytosis? - CORRECT ANSWER >>> the ingestion of liquid into a cell by the budding of small vesicles from the cell membrane. (drinking) How is endocytosis done? - CORRECT ANSWER >>> when the substance to be transported is engulfed by a segment of the plasma membrane, forming a vesicle that moves into the cell. What is phagocytosis? - CORRECT ANSWER >>> the ingestion of bacteria or other material by phagocytes and amoeboid protozoans. (eating) What is receptor-mediated endocytosis? - CORRECT ANSWER >>> receptor-mediated endocytosis to selectively take up specific molecules or complexes of molecules that cannot diffuse or move through transport proteins
What is diffusion? - CORRECT ANSWER >>> The movement of particles from an area of high concentration to an area of low concentration. What happens after endocytosis occurs? - CORRECT ANSWER >>> lysosomal enzymes process and digest material What is osmosis? - CORRECT ANSWER >>> diffusion of water across a selectively permeable membrane What is filtration? - CORRECT ANSWER >>> the measurement of water and solutes through a membrane because of a greater pushing pressure. What is hydrostatic pressure? - CORRECT ANSWER >>> the mechanical force of water pushing against cellular membranes. What is oncotic pressure? - CORRECT ANSWER >>> Osmotic pressure exerted by colloids in solution. What is osmotic pressure? - CORRECT ANSWER >>> The amount of hydrostatic pressure required to oppose the osmotic movement of water What is the resting membrane potential? - CORRECT ANSWER >>> Difference in electrical charge across the membrane at rest What is action potential? - CORRECT ANSWER >>> the change in electrical potential associated with the passage of an impulse along the membrane of a muscle cell or nerve cell. How does DNA replicate? - CORRECT ANSWER >>> DNA molecule unwinds and each strand is a template for complementary base pairing; each daughter helix contains an intact strand from
How common are chromosome abnormalities? - CORRECT ANSWER >>> 1 in 150 live births, leading cause of mental retardation and miscarriage What is polyploidy? - CORRECT ANSWER >>> condition in which an organism has extra sets of chromosomes What is aneuploidy? - CORRECT ANSWER >>> Abnormal number of chromosomes. What is trisomy? - CORRECT ANSWER >>> 3 copies of a chromosome What is monosomy? - CORRECT ANSWER >>> missing one chromosome What are alleles? - CORRECT ANSWER >>> different versions of the same gene Compare monosomies and trisomes - CORRECT ANSWER >>> monosomies cause more severe physical defects than do trisomies, illustrating the principle that the loss of chromosome material has more severe consequences than the duplication of chromosome material. What are the four abnormalities of chromosome structures? - CORRECT ANSWER >>> deletions, duplications, inversions, and translocations. What is a locus? - CORRECT ANSWER >>> the precise location of a gene on a chromosome What is genomic imprinting? - CORRECT ANSWER >>> The silencing of a gene that is 'stamped' with an imprint during gamete production.
What is epigenetics? - CORRECT ANSWER >>> the study of how the environment affects which genes are expressed Recurrence risk for autosomal dominant diseases - CORRECT ANSWER >>> 50% Recurrence risk for autosomal recessive diseases - CORRECT ANSWER >>> 25% What is consanguinity? - CORRECT ANSWER >>> marriage between blood relatives What gene determines sex? - CORRECT ANSWER >>> SRY gene, typically on the Y chromosome. If a Y chromosome lacks SRY gene an XY female can be produced, also if an X chromosome has an SRY gene an XX male may be produced What is a sex-influenced trait? - CORRECT ANSWER >>> sex influenced inheritance are genetic trends based on sex
- i.e. gene that expresses for baldness in men does not for women Why would X-linked recessive genes be seen more in males? - CORRECT ANSWER >>> because males need only one copy of the gene to express the disease Why are skipped generation diseases seen in X-linked diseases? - CORRECT ANSWER >>> Biologic fathers cannot pass X-linked genes to their sons and the gene can be transmitted through carrier females What is a sex limited characteristic? - CORRECT ANSWER >>> one that occurs only in one sex What are polygenic traits? - CORRECT ANSWER >>> traits that are controlled by two or more genes
What is metaplasia? - CORRECT ANSWER >>> a change in stress on an organ that leads to a change in cell type Most commonly involves a change of one type of surface epithelium to another
*metaplastic cells are better able to handle the new stress metaplasia occurs via reprogramming of stem cells which then produce the new cell type What are free radicals? - CORRECT ANSWER >>> unstable oxygen-containing molecules that can damage the cells of the body and possibly contribute to the increased risk of chronic diseases What is dysplasia? - CORRECT ANSWER >>> an abnormal change in the size, shape, and organization of mature tissue cells. It is considered atypical rather than a true adaptational change. What can cause cell injury? - CORRECT ANSWER >>> lack of oxygen (hypoxia), free radicals, caustic or toxic chemicals, infectious agents, inflammatory and immune responses, genetic factors, insufficient nutrients, or physical and mechanical trauma from many causes What are the four biochemical themes associated with cell injury? - CORRECT ANSWER >>> (1) ATP depletion, resulting in mitochondrial damage; (2) accumulation of oxygen and oxygen-derived free radicals, causing membrane damage; (3) protein folding defects; and (4) increased intracellular calcium concentration and loss of calcium steady state. What is the sequence of events in cell death? - CORRECT ANSWER >>> decreased ATP production, failure of active transport mechanisms (the sodium-potassium pump), cellular swelling, detachment of ribosomes from the ER, cessation of protein synthesis, mitochondrial swelling as a result of calcium accumulation, vacuolation, leakage of digestive enzymes from lysosomes, autodigestion of intracellular structures, lysis of the plasma membrane, and death. What happens first in a hypoxic injury? - CORRECT ANSWER >>> the cessation of blood flow into vessels that supply the cell with oxygen and nutrients (ischemia) What is oncosis? - CORRECT ANSWER >>> accumulation of water causing cellular death What can cause a reperfusion injury? - CORRECT ANSWER >>> restoration of oxygen by oxidative
What is necrosis? - CORRECT ANSWER >>> rapid loss of the plasma membrane structure, organelle swelling, mitochondrial dysfunction, and the lack of features of apoptosis What is apoptosis? - CORRECT ANSWER >>> regulated or programmed cell death and is characterized by "dropping off" of cellular fragments, called apoptotic bodies What is necroptosis? - CORRECT ANSWER >>> programmed necrosis What are the four types of necrosis? - CORRECT ANSWER >>> coagulative, liquefactive, caseous, and fatty What is endoplasmic reticulum stress? - CORRECT ANSWER >>> Excessive accumulation of misfolded proteins in the ER What is dysregulated apoptosis? - CORRECT ANSWER >>> excessive or insufficient apoptosis What are some important factors in aging? - CORRECT ANSWER >>> increased damage to the cell, reduced capacity to divide, reduced ability to repair damaged DNA, and increased likelihood of defective protein balance or homeostasis. What is sarcopenia? - CORRECT ANSWER >>> loss of muscle mass and strength What is cachexia? - CORRECT ANSWER >>> weakness and wasting of the body due to severe chronic illness What is somatic death? - CORRECT ANSWER >>> death of the entire organism What is osteogenesis imperfecta? - CORRECT ANSWER >>> caused by pathogenic variants (formerly termed "mutations") in collagen genes
Cause of genetic disease? - CORRECT ANSWER >>> a change in the sequence or cellular content of DNA that ultimately deranges gene expression, deletion of a group of genes or an abnormal number of chromosomes Most genetic disorders affect all cells why? - CORRECT ANSWER >>> it is inherited from a mutant egg or sperm When a genetic disorder does not affect all cells what is it? - CORRECT ANSWER >>> a mosaic because it occurred during gestation What us an alleles? - CORRECT ANSWER >>> slight differences seen in a genes DNA sequence across a population What is a variant and what modifiers are used? - CORRECT ANSWER >>> term to define a change in DNA sequence from the population norm and is used with the following modifiers: "pathogenic," "likely pathogenic," "uncertain significance," "likely benign," and "benign." What is a single nucleotide variant? - CORRECT ANSWER >>> a single base pair change has occurred What is a phenotype? - CORRECT ANSWER >>> any characteristic that can be measured, with the type of measurement depending on the characteristic What are molecular biologic phenotypes? - CORRECT ANSWER >>> can be detected only with a laboratory test What is penetrance? - CORRECT ANSWER >>> the percentage of individuals having a particular genotype that express the expected phenotype
What is type II osteogenesis imperfecta? - CORRECT ANSWER >>> perinatal lethal-severe prenatal fractures, abnormal bone formation, severe deformities, blue sceleras, connective tissue fragility What is type III osteogensis imperfecta? - CORRECT ANSWER >>> progressive deforming- prenatal fractures, deformities present at birth, very short stature, usually nonambulatory, blue scleras, hearing loss What is type IV osteogenesis imperfecta? - CORRECT ANSWER >>> Deforming with normal scleras- postnatal fractures, mild to moderate deformities, premature hearing loss, normal or grey scleras, dental abnormalities What does osteogenesis imperfecta impact? - CORRECT ANSWER >>> type I collagen found in the dermis, connective tissue in organs, vascular and gastrointestinal adventitia, and is the only collagen in bone What is phyenylketonuria? - CORRECT ANSWER >>> elevated levels of urinary phenylpyruvate and phenylacetate, which occur when circulating phenylalanine levels, normally between 0. and 0.1 mmol/L, rise above 1.2 mmol/L What is the most common cause of hyperphenylalaninemia? - CORRECT ANSWER >>> deficiency of the enzyme phenylalanine hydroxylase, which catalyzes the conversion of phenylalanine to tyrosine What can result from untreated hyperphenylalaninemia? - CORRECT ANSWER >>> Post-natal growth restriction, moderate-to-severe intellectual disability, recurrent seizures, hypopigmentation, and eczematous skin rashes What can happen if hyperphenylalaninemia treatment is stopped too early in childhood or adolescence? - CORRECT ANSWER >>> neurocognitive deficits and psychiatric problems that can develop, including deficits in executive functioning and anxiety, depression, and phobias.
How does Fragile X present? - CORRECT ANSWER >>> small joint hyperextensibility, mild hypotonia, and a family history of intellectual disability in maternally related males
