Alterations in Cellular Processes
At its core, pathology is the study of disease. Diseases occur for many reasons. But some, such as cystic fibrosis and Parkinson’s Disease, occur because of alterations that prevent cells from functioning normally.Understanding of signals and symptoms of alterations in cellular processes is a critical step in diagnosis and treatment of many diseases. For the Advanced Practice Registered Nurse (APRN), this understanding can also help educate patients and guide them through their treatment plans.For this Discussion, you examine a case study and explain the disease that is suggested. You examine the symptoms reported and explain the cells that are involved and potential alterations and impacts.To prepare:By Day 1 of this week, you will be assigned to a specific scenario for this Discussion. Please see the “Course Announcements” section of the classroom for your assignment from your Instructor.BELOW IS THE QUESTIONPost an explanation of the disease highlighted in the scenario you were provided. Include the following in your explanation:The role genetics plays in the disease.Why the patient is presenting with the specific symptoms described.The physiologic response to the stimulus presented in the scenario and why you think this response occurred.The cells that are involved in this process.How another characteristic (e.g., gender, genetics) would change your response.BELOW IS THE REQUIRED READINGLearning ResourcesRequired Readings (click to expand/reduce)McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier.Chapter 1: Cellular Biology; Summary ReviewChapter 2: Altered Cellular and Tissue Biology: Environmental Agents (pp. 46-61; begin again with Manifestations of Cellular Injury pp. 83-97); Summary ReviewChapter 3: The Cellular Environment: Fluids and Electrolytes, Acids, and BasesChapter 4: Genes and Genetic Diseases (stop at Elements of formal genetics); Summary ReviewChapter 5: Genes, Environment-Lifestyle, and Common Diseases (stop at Genetics of common diseases); Summary ReviewChapter 7: Innate Immunity: Inflammation and Wound HealingChapter 8: Adaptive Immunity (stop at Generation of clonal diversity); Summary ReviewChapter 9: Alterations in Immunity and Inflammation (stop at Deficiencies in immunity); Summary ReviewChapter 10: Infection (pp. 289-303; stop at Infectious parasites and protozoans); (start at HIV); Summary ReviewChapter 11: Stress and Disease (stop at Stress, illness & coping); Summary ReviewChapter 12: Cancer Biology (stop at Resistance to destruction); Summary ReviewChapter 13: Cancer Epidemiology (stop at Environmental-Lifestyle factors); Summary ReviewJustiz-Vaillant, A. A., & Zito, P. M. (2019). Immediate hypersensitivity reactions. In StatPearls. Treasure Island, FL: StatPearls Publishing. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK513315/Credit Line: Immediate Hypersensitivity Reactions – StatPearls – NCBI Bookshelf. (2019, June 18). Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK513315/. Used with permission of Stat PearlsBELOW IS THE SCENARIOScenario 4: A 27-year-old patient with a history of substance abuse is found unresponsive by emergency medical services (EMS) after being called by the patient’s roommate. The roommate states that he does not know how long the patient had been lying there. Patient received naloxone in the field and has become responsive. He complains of burning pain over his left hip and forearm. Evaluation in the ED revealed a large amount of necrotic tissue over the greater trochanter as well as the forearm. EKG demonstrated prolonged PR interval and peaked T waves. Serum potassium level 6.9 mEq/L.PLEASE MAKE SURE TO REVIEW THE RUBRIC; USE 7TH EDITION APA FORMAT AND PLEASE INCLUDE 5 REFERENCES:PLEASE DONT FORGET 5 REFERENCES: CORE SKILL: reasoning from a CELLULAR alteration to a CLINICAL presentation. The graded chain is: genetic/cellular defect → altered protein or process → tissue dysfunction → signs and symptoms the patient reports.
CELL ADAPTATION — the vocabulary, which must be exact: ATROPHY (decreased cell size), HYPERTROPHY (increased cell SIZE — cardiac myocytes in hypertension, because they cannot divide), HYPERPLASIA (increased cell NUMBER — endometrium under estrogen), METAPLASIA (one mature cell type replaced by another — squamous to columnar in Barrett’s esophagus, a REVERSIBLE adaptive change that is also a premalignant one), DYSPLASIA (disordered growth, pre-neoplastic), ANAPLASIA (loss of differentiation, hallmark of malignancy).
CELL INJURY AND DEATH: reversible injury (cellular swelling, fatty change) vs. IRREVERSIBLE. NECROSIS (pathologic, unregulated, membrane rupture, spills contents, PROVOKES INFLAMMATION — coagulative, liquefactive, caseous, fat, fibrinoid) vs. APOPTOSIS (programmed, regulated, energy-DEPENDENT, membrane intact, cell shrinks and is phagocytosed, NO inflammation). The inflammation distinction is the clinically important one and is the most commonly asked.
MECHANISMS OF INJURY: hypoxia/ischemia (ATP depletion → failure of the Na+/K+ pump → cell swelling), free radicals and oxidative stress, chemical injury, infection, immune-mediated injury, genetic defects, nutritional imbalance, and physical agents.
GENETICS — get the inheritance patterns right, as most cases hinge on them: AUTOSOMAL RECESSIVE (cystic fibrosis, sickle cell — carriers are unaffected; 25% risk with two carrier parents); AUTOSOMAL DOMINANT (Huntington’s, Marfan, familial hypercholesterolemia — 50% transmission, often with variable expressivity and incomplete penetrance); X-LINKED RECESSIVE (hemophilia, Duchenne — affected males, carrier females, NO male-to-male transmission, which is the diagnostic clue on a pedigree); mitochondrial (maternal inheritance only).
WORKED EXAMPLE OF THE REASONING CHAIN — CYSTIC FIBROSIS: an autosomal recessive mutation (most commonly ΔF508) in the CFTR gene → a defective chloride channel → impaired chloride secretion and increased sodium/water reabsorption → THICK, VISCOUS SECRETIONS across all exocrine tissues → and every clinical feature follows from that one fact: airway mucus plugging with chronic infection (Pseudomonas) and bronchiectasis; pancreatic duct obstruction with exocrine insufficiency, malabsorption, and steatorrhea; biliary obstruction; meconium ileus in the newborn; and congenital bilateral absence of the vas deferens causing male infertility. Diagnosis: the SWEAT CHLORIDE TEST (elevated, because CFTR normally reabsorbs chloride from sweat). Demonstrating that you can DERIVE the whole clinical picture from one molecular defect is precisely what the case is testing.
IMMUNITY AND HYPERSENSITIVITY: Type I (IgE, immediate — anaphylaxis, atopy), Type II (antibody-mediated cytotoxicity — hemolytic anemia, Goodpasture), Type III (immune complex — SLE, serum sickness), Type IV (T-cell mediated, DELAYED — contact dermatitis, TB skin test, and it is the only one that is NOT antibody-mediated, which is why “delayed” and “cell-mediated” are its two names).
ADDRESS EXPLICITLY (rubric requirements): how GENETICS, AGE, GENDER, ETHNICITY, and BEHAVIOR modify the process.
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