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NU606 STUDY GUIDE 2026
COMPREHENSIVE ANSWER DIGEST
◉Hyperkalemia on Resting Membrane Potential. Answer: Depolarizes the cell Makes the membrane more negative ◉Hypokalemia on Resting Membrane Potential. Answer: Hyperpolarizes the cell Makes the membrane less negative (more positive) ◉Chapter 4: Cell Injury, Aging, and Death. Answer: ◉Hyperplasia. Answer: Increase in functional capacity related to an increase in cell number due to mitotic division
- Usually in response to increased physiologic demands or hormonal stimulation
- Other causes: persistent cell injury, chronic irritation of epithelial cells
- Usually result from increased functional demand
◉Hypertrophy. Answer: Increase in cell mass accompanied by an augmented functional capacity in response to physiologic and pathophysiologic demands
- General cause:increased cellular protein content
- Usually result from increased functional demand ◉Dysplasia. Answer: Disorganized appearance of cells because of abnormal variations in size, shape, and arrangement
- Represents an adaptive effort gone astray
- Significant potential to transform into cancerous cells (preneoplastic lesions)
- Result from a persistant injury ◉Metaplasia. Answer: Replacement of one differentiated cell type with another
- Common cause: adaptation to persistent injury, with replacement of a cell type that is better suited to tolerate injurious stimulation
- Fully reversible when injurious stimulation is removed
- Result from persistent injury ◉Necrosis. Answer: Usually occurs as a consequence of ischemia or toxic injury
◉Proliferation. Answer: A rapid and often excessive spread or increase ◉Cell Differentiation. Answer: How generic embryonic cells become specialized cells. This occurs through a process called gene expression. Gene expression is the specific combination of genes that are turned on or off (expressed or repressed), and this is what dictates how a cell functions. ◉Endocytosis. Answer: The process of capturing a substance or particle from outside the cell by engulfing it with the cell membrane. The membrane folds over the substance and it becomes completely enclosed by the membrane. At this point a membrane-bound sac, or vesicle, pinches off and moves the substance into the cytosol. There are two main kinds of endocytosis: (1) Phagocytosis, or cellular eating, occurs when the dissolved materials enter the cell. The plasma membrane engulfs the solid material, forming a phagocytic vesicle. (2) Pinocytosis, or cellular drinking, occurs when the plasma membrane folds inward to form a channel allowing dissolved substances to enter the cell
◉Exocytosis. Answer: The process of vesicles fusing with the plasma membrane and releasing their contents to the outside of the cell Exocytosis occurs when a cell produces substances for export, such as a protein, or when the cell is getting rid of a waste product or a toxin. Newly made membrane proteins and membrane lipids are moved on top the plasma membrane by exocytosis. ◉Mitosis. Answer: A type of cell division in which one cell (the mother) divides to produce two new cells (the daughters) that are genetically identical to itself. In the context of the cell cycle, mitosis is the part of the division process in which the DNA of the cell's nucleus is split into two equal sets of chromosomes. ◉*Chapter 5: Genome Structure, Regulation, & Tissue Differentiation *. Answer: ◉Gene. Answer: Invisible, information-containing elements that exist in cells and are passed on to daughter cells when cells divide ◉What do genes do?. Answer: Contains approximately 25,000 genes encoded by only four different deoxyribonucleotides ◉What is the primary role of genes?. Answer: Directs synthesis of a protein
Those involving extra/missing sex chromosome not as debillitating ◉Trisomy 21 (Down Syndrome). Answer: Extra copy of 21st chromosome that occurs almost 12 times per 10,000 live births Most common chromosomal disorder Leading cause of mental retardation Protruding tongue, low-set ears, epicanthal folds, poor muscle tone, short stature; congenital heart deformities, increased susceptibility to respiratory infections, leukemia Clearly associated with advanced maternal age ◉Cri du Chate Syndrome. Answer: Deletion of short arm of chromosome 5 Severe mental retardation, round face, congenital heart anomalies Cry resembles a cat crying Some live to adulthood and thrive better than those with trisomies ◉Klinefelter Syndrome. Answer: Most common sex chromosome abnormality (occurs in 1 out of 1,000 births) Affects males Usually 1 extra X chromosome; sometimes more than 1: XXY, XXXY, XXXXY Abnormal sexual development and feminization
Lack of secondary sex characteristics during puberty Associated signs include: lack of testosterone, testicular atrophy, infertility, feminine hair distribution/gynecomastia, tall stature, long arms/legs, high-pitched voice, and impaired intelligence These patients are usually on testosterone therapy ◉Turner Syndrome. Answer: (1:3000 live female births) Monosomy X: 1 normal X chromosome; no Y chromosome Female phenotype with no developed ovaries Second X chromosome missing or structurally abnormal; usually from father's chromosome Rarely survive to birth Associated signs: short stature, webbed neck, wide chest, congenital heart defects, failure to develop secondary sexual characteristics ◉Multiple X Females (XXX). Answer: Relatively common Menstrual abnormalities; retardation tendency with more than 4 X chromosomes ◉Double Y Males (XYY). Answer: Relatively common Generally taller than average
Parent may transmit to offspring before becoming aware of defective gene ◉Autosomal Recessive Disorders. Answer: Mutation of autosomal recessive gene Males/females equally affected Usually not apparent in affected individual's parents; both parents carriers of mutant recessive gene Unaffected individuals may transmit to offspring
- Two carriers have 1 in 4 chance of having affected offspring and 2 in 4 chance of having carrier offspring Often associated with consanguinity, the mating of family members (familial aspect of two carriers having same recessive gene) Often involve abnormal enzymatic functions ◉Cystic Fibrosis. Answer: Most common of the autosomal recessive dissorders (occuring in 1 out of 3,700 births) Production of abnormally thick secretions in glandular tissues from a defect in chloride transport across the cell membrane Cystic fibrosis transmembrane conductase regulator (CFTR) is a transmembrane protein that transports chloride from the cytoplasm into the lumen of the bronchiole.
Mutations in the CFTR transporter gene are believed to cause the thick secretions typical of cystic fibrosis. Water is just going in one direction so it is much drier in patients with Cystic Fibrosis ◉Phenylketonuria. Answer: Inborn error of metabolism: cannot metabolize phenylalanine (lack enzyme phenylalanine hydroxylase); test for this disorder at birth We test for this in newborns right abfter birth (this disease can be managed with diet) ◉Tay Sachs Disease. Answer: Lysosomal storage disease Mutation on chromosome 15 Deficiency of lysososmal enzyme: hexosaminidase A Ashkenazi Jews Ganglioside accumulates in the cells, particularly the central nervous system, causing progressive destruction of neurons and brain cells Infants born with Tay Sachs disease appear normal until approximately 6 months of age. As the infant matures, motor incoordination, lethargy, muscle flaccidity, and increasing cognitive impairment become apparent.
Present a range of severity Difficult to predict based on family history Interaction of several genes and the environment: multifactorial Examples of multifactorial disorders: high blood pressure, cancer, diabetes Examples of multifactorial traits: height, weight, intelligence ◉Punnet Squares. Answer: Shows predictable patterns in transmission of single-gene traits from parents to offspring Dominant allele (indicated by capital letter) Trait apparent and will mask recessive allele Often codes for functional enzymes or structural proteins Recessive allele (indicated by lowercase letter) Trait apparent only if both alleles are recessive Often codes for nonfunctional enzymes or structural proteins *used more in genetic diseases where the sex of the offspring does not matter ◉Punnet Square for Sex-Linked Disorders. Answer: Both parents heterozygous for dominant trait (Aa)
25% probability of AA; 50% probability of Aa Trait expressed in same manner Aa individual usually is carrier of disease 25% probability of aa Trait absent Many diseases/genetic disorders carried in recessive allele ◉Punnet Squares for Autosomal Recessive Genetic Disorder. Answer: Need both defective genes present for the trait to be expressed ◉TORCH effects. Answer: Refers to infection of a developing fetus or newborn by any of a group of infectious agents. "TORCH" is an acronym meaning (T)oxoplasmosis, (O)ther Agents, (R)ubella (also known as German Measles), (C)ytomegalovirus, and (H)erpes Simplex. ◉Prenatal Diagnosis of Chromosome Abnormalities. Answer: Amniocentesis - about 16 weeks of gestation, amniotic fluid is obtained, fibroblasts are cultured and chromosome abnormalities can be detected; neural tube defects - elevation in α-fetoprotein. Chorionic villus sampling - can be performed at 10 weeks, does not require in vitro culturing because of an adequate number of cells in sample, earlier detection of abnormalities.
◉Cancer Grading System. Answer: Histologic characterization of tumor cells Degree of anaplasia 3 or 4 classes of increasing degrees of malignancy Greater degree of anaplasia=greater degree of malignant potential ◉Cancer Staging of Tumors. Answer: Location and patterns of spread within the host Tumor size Extent of local growth Lymph node and organ involvement Distant metastasis TNM system most widely used T-tumor N-nodes involved M-metastasis Results of staging determine treatment modality ◉Benign Cancer. Answer: Does not have potential to kill host, but may be life-threatening because of its location Does not invade adjacent tissue or spread to distant sites
Can be easily cued ◉Malignant Cancer. Answer: Can kill host if untreated Confirmed by invasive or metastasizing nature Tissue-specific differentiation (does not closely resemble tissue type of origin)
- Greater degree of differentiation or anaplasia indicates aggressive malignancy Grows rapidly May initiate tumor vessel growth Frequently necrotic Dysfunctional ◉Key Gene Mutations Increase for Breast Cancer. Answer: BRCA ◉Key Gene Mutations Increase for Ovarian Cancer. Answer: BRCA ◉BRCA1 BRCA2. Answer: Tumor suppressor genes Associated with breast cancer Family history and inherited defect in BRCA1 increases risk of breast and ovarian cancer
Protein product of bcr/abl spurs cell proliferation & decreases apoptotic cell death Associated with Chronic Myeloid Leukemia ◉Chapter 8: Infectious Process & 9: Inflammation and Immunity. Answer: ◉What is the impact of age on immune function?. Answer: The old and the young have the Very young: immature immune function Very old: degenerating immune function ◉What are the key cells of the immune system?. Answer: ◉Innate Immune System. Answer: Require no previous exposure to effectively respond to antigen NK cells- released into circulation that kills cells bigger than themselves by adhering to the cell, poking holes in it, add sodium (cell swells and lysis) and inject enzymes Phagocytic cells (Neutrophils & Macrophages) Occurs on initial exposure to antigen
◉Overview of the Innate Immune System Response. Answer: (1) Bacteria and other pathogens enter the wound (2) Platelets from blood release blood-clotting proteins at the wound site (3) Mast cells secrete factors that mediate vasodilation and vascular constriction. Delivery of blood, plasma, and cells to injured area increases (4) Neutrophils secrete factors and kill and degrade pathogens (5) Neutrophils and macrophages remove pathogens by phagocytosis (6) Macrophages secrete hormones called cytokines that attract immune system cells to the site and activate cells involved in tissue repair (7) Inflammatory response continues until the foreign material is eliminated and the wound is repaired ◉Specific Immune Respose. Answer: Respond more effectively to 2nd exposure Highly selective in ability to recognize antigens B and T lymphocytes Slow to develop More efficient on subsequent exposure
