An understanding of cells and cell behavior is a critically important component of disease diagnosis and treatment
Module 1 Assignment: Case Study Analysis
An understanding of cells and cell behavior is a critically important component of disease diagnosis and treatment. But some diseases can be complex in nature, with a variety of factors and circumstances impacting their emergence and severity.
Effective disease analysis often requires an understanding that goes beyond isolated cell behavior. Genes, the environments in which cell processes operate, the impact of patient characteristics, and racial and ethnic variables all can have an important impact.
Photo Credit: Getty Images/Hero Images
An understanding of the signals and symptoms of alterations in cellular processes is a critical step in the diagnosis and treatment of many diseases. For APRNs, this understanding can also help educate patients and guide them through their treatment plans.
In this Assignment, you examine a case study and analyze the symptoms presented. You identify cell, gene, and/or process elements that may be factors in the diagnosis, and you explain the implications to patient health.
To prepare:
By Day 1 of this week, you will be assigned to a specific case study for this Case Study Assignment. Please see the “Course Announcements” section of the classroom for your assignment from your Instructor.
The Assignment (1- to 2-page case study analysis)
Develop a 1- to 2-page case study analysis in which you:
Explain why you think the patient presented the symptoms described.
Identify the genes that may be associated with the development of the disease.
Explain the process of immunosuppression and the effect it has on body systems. 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.
Collepals.com Plagiarism Free Papers
Are you looking for custom essay writing service or even dissertation writing services? Just request for our write my paper service, and we'll match you with the best essay writer in your subject! With an exceptional team of professional academic experts in a wide range of subjects, we can guarantee you an unrivaled quality of custom-written papers.
Get ZERO PLAGIARISM, HUMAN WRITTEN ESSAYS
Why Hire Collepals.com writers to do your paper?
Quality- We are experienced and have access to ample research materials.
We write plagiarism Free Content
Confidential- We never share or sell your personal information to third parties.
Support-Chat with us today! We are always waiting to answer all your questions.
