NURS 6501 Advanced Pathophysiology Questions with answers, Exams of Nursing

Download NURS 6501 Advanced Pathophysiology Questions with answers and more Exams Nursing in PDF only on Docsity! NURS 6501 Advanced Pathophysiology Questions with answers How are cells specialized? ✔through the process of differentiation or maturation What are the eight specialized cellular functions? ✔movement, conductivity, metabolic absorption, secretion, excretion, respiration, reproduction, and communication What are the three general components of an eukaryotic cell? ✔the plasma membrane, the cytoplasm, and the intracellular organelles. What causes the release of lysosomal enzemes? ✔Cellular injury causing cellular self-digestion What is the location and function of the nucleus? ✔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? ✔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? ✔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? ✔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? ✔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? ✔involved in the production and breakdown of hydrogen peroxide Importance of proteins in disease ✔The major workhorses of the cell, if misfolded they can cause diseases What are mitochondria responsible for? ✔. Mitochondria contain the metabolic machinery necessary for cellular energy metabolism (Makes ATP). What is the cytoskeleton? ✔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? ✔encloses the cell and, by controlling the movement of substances across it, exerts a powerful influence on metabolic pathways What is signal transduction? ✔The transfer of molecular signals from the exterior to the interior of a cell. If not done apoptosis occurs What is protein regulation and what is it composed of? ✔protein homeostasis and is defined by the proteostasis network. This network is composed of ribosomes (makers), chaperones (helpers), and protein breakdown or proteolytic systems. Malfunction of these systems is associated with disease. What do protein receptors do? ✔on the plasma membrane, enable the cell to interact with other cells and with extracellular substances What means accomplish cell-to-cell adhesions? ✔(1) the extracellular membrane, (2) cell adhesion molecules in the cell's plasma membrane, and (3) specialized cell junctions. What makes up the extracellular matrix and what does it do? ✔(1) fibrous structural proteins (collagen and elastin), (2) adhesive glycoproteins, and (3) proteoglycans and hyaluronic acid. The matrix helps regulate cell growth, movement, and differentiation. How do cells communicate? How does DNA replicate? ✔DNA molecule unwinds and each strand is a template for complementary base pairing; each daughter helix contains an intact strand from the parent helix and a newly synthesized strand therefore DNA replication is semiconservative What are the four phases of the cell cycle? ✔(1) the S phase, during which DNA synthesis takes place in the cell nucleus; (2) the G2 phase, the period between the completion of DNA synthesis and the next phase (M); (3) the M phase, which involves both nuclear (mitotic) and cytoplasmic (cytokinetic) division; and (4) the G1 phase (growth phase), after which the cycle begins again. What are the four stages of the M phase (Mitosis)? ✔prophase, metaphase, anaphase, and telophase. What is DNA composed of? ✔deoxyribose, a phosphate molecule, and four types of nitrogenous bases. The physical structure of DNA is a double helix What does DNA polymerase do? ✔Joins individual nucleotides to make complementary strands and proofreads the sequence of bases and corrects errors What is transcription? ✔The process of making RNA from DNA What is translation? ✔the decoding of an mRNA message into a protein What are diploid somatic cells? ✔Body Cells What are haploid gametes? ✔sperm and egg cells What is a karyotype? ✔A display of every pair of homologous chromosomes within a cell, organized according to size and shape How common are chromosome abnormalities? ✔1 in 150 live births, leading cause of mental retardation and miscarriage What is polyploidy? ✔condition in which an organism has extra sets of chromosomes What is aneuploidy? ✔Abnormal number of chromosomes. What is trisomy? ✔3 copies of a chromosome What is monosomy? ✔missing one chromosome What are alleles? ✔different versions of the same gene Compare monosomies and trisomes ✔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? ✔deletions, duplications, inversions, and translocations. What is a locus? ✔the precise location of a gene on a chromosome What is genomic imprinting? ✔The silencing of a gene that is 'stamped' with an imprint during gamete production. What is epigenetics? ✔the study of how the environment affects which genes are expressed Recurrence risk for autosomal dominant diseases ✔50% Recurrence risk for autosomal recessive diseases ✔25% What is consanguinity? ✔marriage between blood relatives What gene determines sex? ✔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? ✔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? ✔because males need only one copy of the gene to express the disease Why are skipped generation diseases seen in X-linked diseases? ✔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? ✔one that occurs only in one sex What are polygenic traits? ✔traits that are controlled by two or more genes Prediction of disease ✔A marker locus, when closely linked to a disease-gene locus, can be used to predict whether an individual will develop a genetic disease. What are multifactorial traits? ✔traits that depend on multiple genes combined with environmental influences What is cellular adaptation? ✔a reversible, structural, or functional response both to normal or physiologic conditions and to adverse or pathologic conditions What is the threshold of liability? endogenous substance is not effectively catabolized; and (4) a harmful exogenous substance accumulates because of inhalation, ingestion, or infection. What causes cellular swelling? ✔the failure of transport mechanisms and is a sign of many types of cellular injury What is dystrophic calcification? ✔hallmark of CELLULAR INJURY and occurs in all types of cell NECROSIS always in the setting of NORMAL CALCIUM LEVELS, and results in PSAMMOMA BODIES What does a disturbance in urate metabolism cause? ✔hyperuricemia and deposition of sodium urate crystals in tissue—leading to a painful disorder called gout What are the systemic manifestations of cellular injury? ✔fever, leukocytosis, increased heart rate, pain, and serum elevations of enzymes in the plasma What is necrosis? ✔rapid loss of the plasma membrane structure, organelle swelling, mitochondrial dysfunction, and the lack of features of apoptosis What is apoptosis? ✔regulated or programmed cell death and is characterized by "dropping off" of cellular fragments, called apoptotic bodies What is necroptosis? ✔programmed necrosis What are the four types of necrosis? ✔coagulative, liquefactive, caseous, and fatty What is endoplasmic reticulum stress? ✔Excessive accumulation of misfolded proteins in the ER What is dysregulated apoptosis? ✔excessive or insufficient apoptosis What are some important factors in aging? ✔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? ✔loss of muscle mass and strength What is cachexia? ✔weakness and wasting of the body due to severe chronic illness What is somatic death? ✔death of the entire organism What is osteogenesis imperfecta? ✔caused by pathogenic variants (formerly termed "mutations") in collagen genes Cause of genetic disease? ✔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? ✔it is inherited from a mutant egg or sperm When a genetic disorder does not affect all cells what is it? ✔a mosaic because it occurred during gestation What us an alleles? ✔slight differences seen in a genes DNA sequence across a population What is a variant and what modifiers are used? ✔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? ✔a single base pair change has occurred What is a phenotype? ✔any characteristic that can be measured, with the type of measurement depending on the characteristic What are molecular biologic phenotypes? ✔can be detected only with a laboratory test What is penetrance? ✔the percentage of individuals having a particular genotype that express the expected phenotype What is fitness? ✔how well an organism can survive and reproduce in its environment What is variable expressivity? ✔The same altered gene giving rise to a spectrum of different phenotypes What is a neutral effect on gene activity? ✔no effect What is an amorphic variant effect on gene activity? ✔Complete loss of function What is a hypomorphic variant effect on gene activity? ✔Partial loss of function What is a hypermorphic variant effect on gene activity? ✔gain of function What is a neomorphic variant effect on gene activity? ✔acquires a new property What is hemizygosity? ✔a recessive inheritance that emerges in a male due to only having one X chromosome What is type 1 osteogenesis imperfecta? ✔mild-Short stature, postnatal fractures, little or no deformity, blue scleras, premature hearing loss