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NURS 6501 ADVANCED PATHOPHYSIOLOGY FINAL
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MIDTERM 6501 3VERSIONS
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 phagocytosis? - the ingestion of bacteria or other material by phagocytes and amoeboid protozoans. (eating) What is receptor-mediated endocytosis? - receptor-mediated endocytosis to selectively take up specific molecules or complexes of molecules that cannot diffuse or move through transport proteins What is diffusion? - The movement of particles from an area of high concentration to an area of low concentration. What happens after endocytosis occurs? - lysosomal enzymes process and digest material
What is osmosis? - diffusion of water across a selectively permeable membrane What is filtration? - the measurement of water and solutes through a membrane because of a greater pushing pressure. What is hydrostatic pressure? - the mechanical force of water pushing against cellular membranes. What is oncotic pressure? - Osmotic pressure exerted by colloids in solution. What is osmotic pressure? - The amount of hydrostatic pressure required to oppose the osmotic movement of water What is the resting membrane potential? - Difference in electrical charge across the membrane at rest What is action potential? - 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? - 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 G 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 passive transport? - 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? - 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? - Endo= into the cell (engulf). Exo= out of the cell (excrete). What is active transport? - requires the cell to expend energy (by means of ATP) to move larger molecules and molecular complexes What is pinocytosis? - the ingestion of liquid into a cell by the budding of small vesicles from the cell membrane. (drinking) How is endocytosis done? - when the substance to be transported is engulfed by a segment of the plasma membrane, forming a vesicle that moves into the cell. 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 selfdigestion 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 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 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? - In many multifactorial traits, once the threshold of liability has been crossed, the disease may be expressed. What is atrophy? - decrease in cell size What are the most commonly seen adaptive cell changes? - atrophy, hypertrophy, hyperplasia, and metaplasia. What is hypertrophy? - increase in cell size What mechanisms cause atrophy? - include decreased protein synthesis, increased protein catabolism, or both What is hyperplasia? - increase in number of cells caused by increased rate of cellular division What happens with hypertrophy? - The amounts of protein in the plasma membrane, ER, microfilaments, and mitochondria increase What is metaplasia? - 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? - unstable oxygen-containing molecules that can damage the cells of the body and possibly contribute to the increased risk of chronic diseases
What are the two categories of intracellular accumulations? - (1) normal cellular substances, such as water, proteins, lipids, and carbohydrate excesses; and (2) abnormal substances, either endogenous (e.g., from abnormal metabolism) or exogenous (e.g., a virus). What mechanisms cause accumulations? - (1) An endogenous substance is produced in excess or at an increased rate; (2) an abnormal substance, often the result of a mutated gene, accumulates; (3) an 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
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 What is type II osteogenesis imperfecta? - perinatal lethal-severe prenatal fractures, abnormal bone formation, severe deformities, blue sceleras, connective tissue fragility What is type III osteogensis imperfecta? - progressive deforming- prenatal fractures, deformities present at birth, very short stature, usually nonambulatory, blue scleras, hearing loss What is type IV osteogenesis imperfecta? - Deforming with normal scleras- postnatal fractures, mild to moderate deformities, premature hearing loss, normal or grey scleras, dental abnormalities What does osteogenesis imperfecta impact? - 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? - elevated levels of urinary phenylpyruvate and phenylacetate, which occur when circulating phenylalanine levels, normally between 0.06 and 0.1 mmol/L, rise above 1.2 mmol/L
What is the most common cause of hyperphenylalaninemia? - deficiency of the enzyme phenylalanine hydroxylase, which catalyzes the conversion of phenylalanine to tyrosine What can result from untreated hyperphenylalaninemia? - 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? - neurocognitive deficits and psychiatric problems that can develop, including deficits in executive functioning and anxiety, depression, and phobias. How does Fragile X present? - small joint hyperextensibility, mild hypotonia, and a family history of intellectual disability in maternally related males
