BIO280 Pathophysiology Student Outline (August 2024) PDF

BIO280: Pathophysiology Lecture Outlines Version: August 2024 Table of Contents: Introduction and Instructions for Use..........................................................................................................3 Module 1............................................

BIO280: Pathophysiology Lecture Outlines Version: August 2024 Table of Contents: Introduction and Instructions for Use..........................................................................................................3 Module 1........................................................................................................................................................4 Module 2.......................................................................................................................................................16 Module 3.......................................................................................................................................................30 Module 4.......................................................................................................................................................36 Module 5.......................................................................................................................................................45 Module 6.......................................................................................................................................................57 Module 7.......................................................................................................................................................78 Module 8.......................................................................................................................................................91 Module 9.....................................................................................................................................................106 Module 10...................................................................................................................................................120 Module 11...................................................................................................................................................128 Module 12...................................................................................................................................................134 Module 13...................................................................................................................................................145 Module 14...................................................................................................................................................157 AppendixA: Lab Values and Abbreviations...............................................................................................163 AppendixB: Practice Questions.................................................................................................................168 2 Version: August 2024 Introduction: This outline has been created to aid in focusing students’ study of Pathophysiology at Joyce University. This outline has been created in alignment with lecture and exam content. It includes additional spacing to allow you to take notes directly on the outline should you choose. The outline also includes supplemental worksheets and practice questions, as well as some other resources which faculty and previous students have found helpful for this course. Strategies for Success: This course has been designed using a “flipped classroom model.” To be successful in the course, students should watch video lectures and complete case study assignments prior to their Zoom lecture sessions. Zoom lecture sessions are intended to help deepen the student’s understanding of key material and provide additional instruction on any complex or confusing content. They are intended to be interactive and provide the student the opportunity to participate with the material. Module quizzes have been created to assess comprehension and mastery of module material. The quizzes will help prepare students for unit exams. They are to be taken without the use of notes or outside sources. It is recommended to take the module quizzes after significant time has been spent with the module content, to help the student assess their mastery of the content. This course is fast-paced and is intended to give students a foundational understanding of key pathophysiologic principles, which will be built upon in their nursing courses throughout the rest of their nursing program. The pathophysiology course has been aligned with the pharmacology course so that, wherever possible, students are learning about the same body system in each course. The exams in pharmacology and pathophysiology have been staggered - except for the final exam, students will typically take their pathophysiology and pharmacology exams on alternating weeks. Diversity, Equity and Inclusiveness: The language used in these resources, especially surrounding the material covered in Module 7 (Genetics) has been chosen in order to maintain inclusivity of all genders and sexual orientations. If you have questions about terminology used, please refer to your instructor for additional guidance. Citation: When referencing this text, please use the following citation: Joyce University of Nursing and Health Sciences. (2023) Bio 280 Outline. 3 Version: August 2024 Module 1 – Week 1 Module 1 Topics // Fluid and Electrolytes; Acid/Base Balance Part 1: Fluid and Electrolytes A. Fluid Distribution: 60% of body weight is water o Intracellular: 2/3 ▪ Fluids found ___________ the cells o Extracellular: 1/3 ▪ Fluids found ___________ the cells Intravascular Interstitial Transcellular B. Fluid Regulation: RAAS system, ADH, ANP/BNP 1. Renin-Angiotensin-Aldosterone System: Overall Net Effect: Increased plasma volume, increased blood pressure, increased vascular tone, and increased cardiac output Key hormones of the RAAS: - Renin: o Released by: - Angiotensin: o Angiotensin 1 + ___________ = Angiotensin 2 - Aldosterone: o Regulates __________ reabsorption o Remember: Wherever salt/ sodium goes, water follows 4 Version: August 2024 2. Anti-Diuretic Hormone (ADH) / Vasopressin: Overall Net Effect: Increased plasma volume, increased blood pressure What does ADH tell the kidneys to do? 3. ANP and BNP: Overall Net Effect: Decreased plasma volume, decreased blood pressure 5 Version: August 2024 C. Edema Fluid Dynamics: A reminder Edema: A condition where fluid leaves the blood vessel and enters the interstitial space Causes of Edema: 1. Due to increased hydrostatic pressure: a. Circle the correct option: Hydrostatic pressure is a pulling / pushing force b. Examples: 2. Due to decreased colloidal osmotic pressure (oncotic pressure): a. Circle the correct option: Osmotic pressures is a pulling / pushing force 6 Version: August 2024  b. Examples: 3. Due to increased vascular permeability: a. Examples: D. Causes of Fluid Volume Imbalance Excessive water loss: SIADH: Syndrome of Inappropriate ADH Definition: Excessive ADH = excessive reabsorption of water Fluid overload → signs and symptoms of SIADH o Elevated blood pressure o Hyponatremia: irritability, confusion, headache, muscle cramps, twitching, pulmonary congestion o Concentrated urine: high specific gravity (dark and concentrated), high urine osmolality o Edema: fluid escapes the blood vessel and enters the tissue o Water intoxication 7 Version: August 2024  DI: Diabetes Insipidus NO ADH = excessive loss of water The absence of ADH results in excessive water loss, leading to the production of large amounts of urine As a result, 2 processes happen: the volume of fluid circulating in the body ________________, while the volume of fluid exiting the body as urine __________________. Therefore, as the plasma volume decreases, the plasma osmolality __________________ and as the urine volume increases, osmolality ______________________. Another test you may see for urine is the specific gravity. Additionally, the concentration of sodium in the blood vessel increases as more water is lost in the urine, leading to __________________________. Hypernatremia results in increased thirst, lethargy, fatigue, confusion, muscle twitching, seizures and coma. E. Electrolytes: Na+ / K+ Sodium (Na+) : 135-145mEq/L Principles: Water follows Sodium Greatest concentration of sodium is in the extracellular fluid (ECF) Key Concept: Sodium regulates fluid volume and movement o Hyponatremia: ▪ Signs and symptoms: ▪ Causes: o Hypernatremia: ▪ Signs and symptoms: ▪ Causes: 8 Version: August 2024  Potassium (K+) : 3.5-5.0mEq/L Principles: Assists in balancing the electrochemical gradient across the plasma membrane Involved in acid-base balance Key Concept: Potassium regulates conduction of cardiac muscle o Hypokalemia: ▪ Delayed repolarization of cardiac muscle due to lack of potassium (LOW & SLOW) ▪ Signs and symptoms: ▪ Causes: o Hyperkalemia: ▪ Sharper T-wave because of K-driven repolarization (TIGHT & CONTRACTED) ▪ Signs and symptoms: ▪ Causes: F. Electrolytes: Ca2+ / P / Mg2+ Calcium (Ca2+) : 9.0-10.5mEq/L Principles: Involved in blood coagulation Assists in neuronal release of neurotransmitters Key Concept: regulates muscle contraction o Hypocalcemia: ▪ Trousseau’s Sign: ▪ Chvostek’s Sign: 9 Version: August 2024  ▪ Signs and Symptoms: ▪ Causes: o Hypercalcemia: ▪ Moans: CNS effects – fatigue, memory loss, psychosis, depression, lethargy ▪ Bones: painful conditions (osteitis fibrosa cystica) ▪ Stones: calcium-based kidney stones ▪ Thrones: nausea, vomiting, abdominal pian ▪ Causes: Phosphate (PO4) : 2.5-4.5mg/dL Principles: Opposite to calcium Increased calcium → decreased phosphate (and vice versa) Important for regulation of bone density and integrity Assists in enzymatic reactions Key Concept: contributes to cell membrane stability o Hypophosphatemia ▪ Signs/ symptoms: ▪ Causes: o Hyperphosphatemia ▪ Signs/ symptoms: ▪ Causes: Magnesium (Mg2+) : 1.3-2.1mEq/L Principles: mainly regulated by renal excretion in association with parathyroid hormone (PTH) and Vitamin D Assists in regulating blood pressure Assists in enzymatic reactions 10 Version: August 2024  Key Concept: acts as a muscle relaxant o Hypermagnesemia ▪ Signs/ symptoms: ▪ Causes: o Hypomagnesemia ▪ Signs/ Symptoms ▪ Causes: Part 2: Acid/Base Balance A. Buffer System a. Serum i. Immediate ii. Bases can combine with acids (form water & CO2) iii. Proteins can combine with H+ iv. K+ can exchange for H+ b. Respiratory i. Minutes to hours ii. CO2 levels are tightly regulated iii. Increased CO2 → ___________________ iv. Decreased CO2 →___________________ c. Renal i. 2-3 day delay ii. Continuous iii. Produce & recycle HCO3- iv. Filter and excrete excess H+ v. Ammonia + H+ = Ammonium B. Respiratory Imbalances: 11 Version: August 2024 C. Metabolic Imbalances: D. Clinical Features of Acid/Base Imbalances: Respiratory: o Normal rate 12-20 breath/min in adults o PaCO2 : low in alkalosis, high in acidosis o PaO2 : low in hypoxia Metabolic: o HCO3-: high in alkalosis, low in acidosis o Anion gap: high in acidosis, low in alkalosis E. Anion Gap: A laboratory test that measures whether electrolytes are imbalanced 12 Version: August 2024  Equation: (Na+ + K+) – (HCO3- + Cl-) High anion gap = acidosis F. ABGs: Normal values pH: 7.35-7.45 PaCO2: 35-45 mmHg (partial pressure of arterial carbon dioxide) HCO3: 22-26 mEq/L (arterial concentration of bicarbonate) Steps to interpreting ABG’s 1. What is the pH? 2. What is the PaCO2? 3. What is the HCO3? 4. Are they normal? (if yes, stop here) 5. Any compensation? (look at the pH) Below, you will find several practice ABG scenarios. The answers to each scenario are contained in the lecture video by Dr. Hill entitled “ABGs”. Please see your week 1 module for the video. Additional ABG practice can be found in the appendix to this outline. 13 Version: August 2024  14 Version: August 2024 Module 2 – Week 2 Module 2 Topics // Pathogens; Immune System and WBC Disorders; UTI Part 1: Pathogens A. Pathogens: Organisms that cause disease to their host Most common causes of infection: 1. Bacteria (streptococcus pyogenes, streptococcus pneumoniae, E. coli) o Bacteria shapes: ▪ Cocci ▪ Bacilli ▪ Spirilla 2. Viruses (coronavirus, rhinovirus, influenza, herpes simplex o Steps of viral infection: 1. Attachment a. Notes: 2. Penetration a. Notes: 3. Uncoating a. Notes: 4. Replication a. Notes: 5. Assembly a. Notes: 6. Release 15 Version: August 2024  a. Notes: 3. Protozoa (giardia, malaria, scabies, lice) o Key features: single-celled organisms that cause harm o Additional examples: Malaria, Giardia, Trichomoniasis, Toxoplasmosis 4. Fungi (tinea, candida) a. AKA mycotic infection` 5. Helminths/Worms (pin worm, tape worm) 16 Version: August 2024 B. Routes of Transmission and Establishing Infection Routes of Transmission Aerosol, Airborne, Droplet Contact Fomite Contact Direct Contact Vector Transmission Oral Transmission Zoonotic Transmission Establishing Infection (5) 1. Entrance a. Notes: 2. Adherence a. Notes: 3. Colonization a. Notes: 4. Avoid Host Defenses a. Notes: 5. Create Host Injury a. Notes: Additional Terms to Know Colonization: An increase in the amount of a microorganism present at a given location (replication / growth) o The presence of microorganisms (flora) without infection or harm Virulence: A pathogen’s ability to cause disease (influenced by toxins, adherents, evasion) Nosocomial Infection: A hospital-acquired infection that occurred in the hospital/clinical setting 17 Version: August 2024  Opportunistic Infection: An infection that occurs when microbes that typically do not cause disease take advantage of certain conditions and become pathogenic C. Stages of Infection Stages of Infection (6) 1. Exposure a. Notes: 2. Incubation a. Notes: 3. Prodrome a. Notes: 4. Acute a. Notes: 5. Convalescent a. Notes: 6. Resolution a. Notes: D. Testing for Microbes (with a focus on bacteria) Goal: Identify what type of bacteria we are looking at Q. Where can samples come from? Gram Stain: A way to organize bacteria into one of two groups to understand which type of antibiotic would be best Culture: A test that tells the identity of bacteria Sensitivity: A test that tells us which specific antibiotics are best to treat the bacterial infection 18 Version: August 2024  Gram Stain: A dye is used that gets trapped in the thick peptidoglycan layer of gram positive bacteria, causing them to look purple. The dye is not trapped in the single peptidoglycan layer in gram negative bacteria and washes out (appearing red). o Gram Positive Notes: o Gram Negative Notes: Culture and Sensitivity: Culture: A patient sample that is grown within a laboratory setting to help identify which bacteria is present Sensitivity: Bacterial culture is subjected to variety of antibiotics to determine which are most effective against the pathogen present Incidence and Prevalence: Incidence: new cases (Incidents) Prevalence: all cases (PrevALLence) E. Tuberculosis (bacteria) Symptoms: 19 Version: August 2024 Part 2: Immune System and WBC Disorders A. Primary Lymphoid Organs 4 Primary Lymphoid Organs: 1. Bone Marrow: A primary lymphoid organ o Site of hematopoiesis o Produces all immune cells o Site of B-cell maturation o Unidirectional exit for cells to enter blood / lymphatics 2. Thymus: A primary lymphoid organ o Site of T-Cell Maturation o Shrinks from puberty onward, but still active 3. Lymph Nodes/Lymphatics o Immune surveillance o Present anywhere that the body bends or regions come together o Filters fluid from the tissue o Removes foreign matter from the tissue o Removes waste from the tissues o Proliferates immune cells (B- and T-cells 4. Spleen o Acts as a massive lymph node o Home to white pulp o Mononuclear phagocyte system o Removes and destroys antibody-coated bacteria / RBC’s o Filters blood o Removes dead / damaged RBC’s o Filters antigens from the blood o B- and T-cells exist in the spleen B. Innate and Adaptive Immune System Immune system definition: a defense against pathogens and the environment around us o Innate (humoral) vs. Adaptive (compliment) 20 Version: August 2024  Red Blood Cells: White Blood Cells: o Neutrophils (polymorphic leukocytes) ▪ Notes: o Eosinophils (acidophils) ▪ Notes: o Basophils ▪ Notes: o Monocytes ▪ Notes: o Lymphocytes 21 Version: August 2024  ▪ Notes: Innate vs. Adaptive o Innate = NONSPECIFIC o Adaptive = SPECIFIC ▪ Fast response (0-4 hours) ▪ Slow response (4-14 days) C. Humoral Immunity and Hypersensitivity Reactions Humoral Immune System: The 5 Immunoglobulins o IgG: o IgA: o IgM: o IgE: o IgD: 22 Version: August 2024  Hypersensitivity Reactions (4 Types) 1. Type I: IgE & Mast Cells a. Allergic responses b. Examples: 2. Type II: IgM / IgG a. Cytotoxic responses b. Examples: c. (Compliment) 3. Type III: Antigen-Antibody Complex a. Immune complex b. Examples: c. (Compliment, IgG, IgM, Neutrophils) 4. Type IV: Cell-Mediated Reactions a. Delayed Type Hypersensitivity Reaction (DTH): 24-48 hours after exposure / contact b. Examples: c. (Cytotoxic T Cells, Natural Killer Cells, Macrophages) Allergic Response: o Risk of anaphylaxis: extreme allergic response characterized by involvement of 2 or more bodily systems ▪ Urticaria and respiratory involvement ▪ Treat with epinephrine 23 Version: August 2024  Transplant Rejection: o Background: Almost every cell in the body has a “name tag” called a human leukocyte antigen (HLA) ▪ Role of HLA: Lets the immune system know that the cell belongs o During organ transplants it is important to receive donor tissue that matches the recipient’s ________________ as closely as possible to prevent the immune system from ________________ the tissue o Types of Transplants (2) 1. Autologous 2. Allogenic o Types of Rejection (3) 1. Hyper-acute 2. Acute 3. Chronic D. Active and Passive Immunity Goal: IMMUNITY Vaccine Types (5) 1. Inactivated: 2. Attenuated: 3. Toxoid: 4. Subunit: 5. Conjugate: E. Autoimmune Disease Background: The immune system is a complex system of chemicals, cells, signals and other parts. 24 Version: August 2024 When one or more of these parts “accidentally” targets the body instead of foreign particles, we can develop _____________________ disease. The signs / symptoms of each autoimmune disease are specific to the parts of the immune system involved and their specific targets. F. Immunodeficiency and HIV Immunodeficiency: A condition that develops as the result of a compromised immune system o May be temporary or permanent o Increases the likelihood of “opportunistic infections” o Common causes of immunodeficiency: HIV Infection: HIV: A Quick Reference o Definition: a virus that selectively targets CD4 lymphocytes (T-Helper Cells) ▪ Results in a failure of the adaptive immune system ▪ Increases risk of uncommon infections and cancers o Caused by exposure to infected bodily fluids ▪ Causes: 25 Version: August 2024  o Signs and symptoms: o Stages of HIV Infection (3) ▪ Acute: ▪ Latent: ▪ AIDS: o HIV and Viral Load: ▪ Viral load is the concentration of a virus within a person (ability to infect others) ▪ Antiretroviral therapy is important to: Lower viral load Prevent mutation of the disease Decrease spread G. WBC Disorders Hodgkin’s vs. Non-Hodgkin’s Lymphoma Leukemia: Cancer of the bone marrow cells 26 Version: August 2024  o Myeloid cells: basophils, eosinophils, neutrophils o Lymphoid cells: T cells, B cells Part 3: Urinary Tract Infection (UTI) A. Urinary Tract Infection: E. Coli accounts for 75-95% of UTIs 27 Version: August 2024  28 Version: August 2024 Module 3 – Week 3 Module 3 Topics // Cell Response to Injury and Cancer Part 1: Cellular Injury A. Cellular Injury Common Causes of Cellular Injury: 1. Hypoxia: 2. Physical: 3. Radiation: 4. Chemical: 5. Biologic/Infectious: 6. Nutritional: 7. Genetic: Diving Deeper: Hypoxic Cellular Injury Hypoxia (lack of Oxygen to the cell): A lack of oxygen may dramatically alter cellular function a. No oxygen → anaerobic metabolism (glycolysis only) ▪ Low ATP (not enough to function) ▪ Pyruvate stored as lactic acid → intracellular space becomes acidic → organelle breakdown → lysosome digestion of cell b. Na /K+ pump failure + ▪ K+ leaks out of the cell AND NA+ leaks into the cell (followed by water) → cellular edema / swelling c. Calcium pump failure ▪ Mitochondria stop working due to accumulation of calcium d. Ribosomal Dysfunction ▪ Inhibition of protein synthesis Terms to know: Hypoxia: Hypoxemia: Anemia: Ischemia: Cellular Response to Injury: Reversible cellular injury: o Membrane blebbing 29 Version: August 2024  o Swelling Irreversible cellular injury: o Necrosis ▪ Traumatic cell death ▪ Inflammation occurs ▪ Always pathologic o Apoptosis ▪ Programmed cell death ▪ No inflammation occurs ▪ Not pathologic B. Cellular Adaptations Terms to Know: Hypertrophy: Hyperplasia: Atrophy: Metaplasia: Dysplasia: Neoplasia: Part 2: Cancer A. Carcinogens 30 Version: August 2024 Carcinogen: any substance, chemical or radiation that promotes ____________________ : the formation of cancer AND/OR Ability to damage DNA leading to _________________ or disruption of cellular _____________________ processes Carcinogens commonly come from: Home and environment Foods Lifestyle Industry Virus Free Radicals: “steal” electrons from other cells in order to be electrically happy Causes oxidative damage Combat with anti-oxidants B. Cancer: Development; Benign vs. Malignant Process of Cancer Development: Tumors: Benign vs. Malignant Autonomy: Angiogenesis: 31 Version: August 2024 Stages of Metastasis: C. Cancer: Grading and Staging; Classification Grading and Staging o Grading: differentiation of cells (I-IV) ▪ Describes the appearance of cancerous cells under a microscope o Staging: how far the cancer has spread I = local, confined to tissue of origin II = invasion, next to the tissue of origin III = lymph nodes involved IV = distant origin, metastatic TNM Classification: T = Tumor size N = Lymph Nodes M = Metastasis Cancer Naming (7) 1. Carcinomas – epithelial cells (80-90% of cancers) a. Adenocarcinoma: 32 Version: August 2024  b. Squamous cell carcinoma: 2. Sarcomas: 3. Lymphomas: 4. Melanomas: 5. Myelomas: 6. Leukemias: 7. Gliomas: D. Cancer: Screening; Treatment Options Cancer Symptoms: depend upon the location of the cancer and whether it has metastasized Common Cancer Symptoms: Cancer Screening o Prostate Specific Antigen (PSA) – cancer o Papanicolau (PAP) smear – cancer o Mammogram – cancer o Colonoscopy – cancer o Mole check – melanoma Treatment Options o Surgery o Radiation o Chemotherapy 33 Version: August 2024  34 Version: August 2024 Module 4 – Week 4 Module 4 Topics // Inflammation, Pain and Neurodegenerative Diseases Part 1: Inflammation A. Inflammation: Acute vs. Chronic B. Inflammation: Localized vs. Systemic Localized Inflammation o Signs and Symptoms 1. 2. 3. 4. 5. o Four Stages of Localized Inflammation 1. Trauma (injury) 2. Localized response: mast cells in the tissue release histamine 3. Vascular response: histamine and leukotriene causes vasodilation, vascular permeability and chemotaxis 4. Cellular response: a. Neutrophils are first responders b. Circulating monocytes exit the blood vessels and become macrophages which act as the “clean-up crew” 35 Version: August 2024  Systemic Inflammation → start to see system-wide changes o Altered vital signs o Leukocytosis o Elevated Erythrocyte Sedimentation Rate (ESR) o Elevated C-Reactive Protein (CRP) C. SIRS and Sepsis SIRS = Systemic Inflammatory Response Syndrome Sepsis: SIRS + confirmed or suspected infection D. Wound Healing 4 Stages of Wound Healing 1. 2. 3. 4. 36 Version: August 2024  3 Approaches to wound closure: 1. Primary Intention: all sutures are closed with suture material 2. Secondary Intention: wound is left open and closes naturally 3. Third Intention: wound is left open for some time (days) and then closed if it is found to be clean E. Inflammatory Diseases Gout: Painful inflammatory disease caused by excess amounts of uric acid o Pathophysiology a. Increased uric acid production → hyperuricemia b. Uric acid crystals form and gravity pulls them toward the lowest point in the body (often the big toe, but may occur in any joint space) c. Uric acid crystals cause pronounced localized inflammation leading to intense pain d. Uric acid crystals can also condense in the kidney and result in uric acid stones o Tests: clinical presentation, joint aspiration, serum uric acid concentration o Risk factors: Fibromyalgia: autoimmune condition characterized by chronic pain, accompanied by fatigue and sleep problems o Symptoms: o Risk factors: Rheumatoid Arthritis: autoimmune disorder that leads to erosion and destruction of joints o Clinical features: Version: August 2024  Systemic Lupus Erythematosus (SLE): Autoimmune disorder in which autoantibodies target nucleic acids o Common Lupus Symptoms: ▪ Joint and muscle: ▪ CNS: ▪ Blood Vessels: ▪ Eye: 38 Version: August 2024  Scleroderma: Autoimmune disorder characterized by excess collagen and fibroids o Clinical features: 1. Chronic hardening / tightening of the skin and connective tissue (may be localized or diffuse throughout the body) 2. Cold / stress induced vasospasm (Raynaud’s Disease) 3. Heartburn secondary to esophageal dysmotility Part 2: Pain A. Nociceptive Pain Sensation: Five Steps of “Normal” Pain Sensation 1. 2. 3. 4. 5. 39 Version: August 2024  Somatic Pain: skin, tissue, muscle o Localized pain Visceral Pain: internal organs o Referred pain B. Neuropathic Pain Sensation Neuropathic pain: caused by damage to PNS / CNS o Burning pain o Trauma, diabetic neuropathy, medications C. Acute vs. Chronic Pain Part 3: Neurodegenerative Diseases A. Neurodegenerative Diseases (and Guillain-Barre Syndrome) Parkinson’s Disease: neurodegenerative disease characterized by loss of dopamine-producing cells in the Substantia Nigra o Clinical Features: ▪ Risk for aspiration pneumonia 40 Version: August 2024  Huntington’s Disease: Autosomal dominant inherited neurodegenerative disease o Clinical Features: o No cure Alzheimer’s Disease: Progressive, incurable neurologic disease characterized by amyloid plaque formation in the brain, resulting in impaired memory and personality changes o The 5 A’s of Alzheimer’s 1. 2. 3. 4. 5. o Risk factors: Multiple Sclerosis: Neurodegenerative disease characterized by autoimmune destruction of the myelin sheath in the CNS o Memory Trick: Multiple Sclerosis = Myelin Sheath o Signs / Symptoms: o Types of MS: ▪ Relapsing -Remitting (come and go) ▪ Primary Progressive (gradually worsens) ▪ Secondary Progressive (come and go with gradual worsening) 41 Version: August 2024  Amyotrophic Lateral Sclerosis (ALS): Neurodegenerative disease characterized by progressive death of motor neurons in the PNS o Complications ▪ Respiratory failure ▪ Aspiration o Schwann Cells: Guillain-Barre Syndrome: Neurodegenerative disease characterized by ascending paralysis o Pathophysiology: exact cause is unknown, commonly preceded by infection ▪ Most common cause is infection with Campylobacter Jejuni o Clinical features: B. Diseases of the Neuromuscular Junction Botulism: Neuromuscular junction is affected by the clostridium botulinum toxin o Pathophysiology: botulinum toxin blocks acetylcholine release, resulting in a descending paralysis o Toxin commonly found in: ▪ Honey 42 Version: August 2024  ▪ Goods that are improperly canned ▪ Alcohol improperly canned o Must be reported to CDC Tetanus: Neuromuscular junction is affected by the clostridium tetani toxin o Pathophysiology: blocks inhibitory nerves in the brain o Causes: o Clinical features: Myasthenia Gravis: autoimmune destruction of the acetylcholine receptor in the neuromuscular junction o Affects skeletal muscle to verying degrees but most commonly affects muscles of eyes / face / swallowing o Clinical features: 43 Version: August 2024 Module 5 – Week 5 Module 5 Topics // Mental Health Disorders and Neurological Disorders Part 1: Mental Health Disorders A. Anxiety Disorders Anxiety Disorders: A group of conditions that are characterized as emotional states of being with physiologic effects Types of Anxiety Disorders Generalized Anxiety Disorder (GAD): Social Anxiety Disorder: Obsessive-Compulsive Disorder (OCD): Panic disorder: Post-Traumatic Stress Disorder (PTSD): Common Symptoms: B. Mood Disorders: Mood Disorders Definition and Types: persistent disturbance in mood that impairs ability to effectively deal with daily living Major Depression Bipolar Disorder Dysthymia Cyclothymia Mood Disorder from Health Conditions Mood Disorder from Substance Abuse Diving Deeper: Depression Types of Depressive Disorders: 44 Version: August 2024  o Major Depressive Disorder: o Post-Partum Depression: o Seasonal Affective Disorder: Depression Causes: complex and multifactorial, including biologic, genetic and environmental components Common Symptoms of Depression: Diving Deeper: Bipolar Disorder (Mania-Depression) Bipolar Disorder: a relatively common and serious psychiatric disorder with a higher-than-average risk of suicide Mania: o Inflated self-esteem / grandiosity o Decreased need for sleep and food o Distractibility o Increased psychomotor / goal-directed activity o Poor judgment (increased spending / sexual promiscuity) o Pressure of speech o +/- delusion, paranoia, hallucination, psychosis Depression: see above C. Schizophrenia Schizophrenia: a disease characterized by abnormal thinking patterns that result in social dysfunction, impair interpersonal relationships and neglected self-care Positive (Psychotic) o Hallucinations o Delusions o Disorganized Speech o Paranoia Negative o Alogia o Avolition o Anhedonia o Social withdrawal 45 Version: August 2024 D. Attention Deficit Hyperactivity Disorder (ADHD) ADHD: A disorder characterized by inattention and hyperactivity due to low levels of dopamine and norepinephrine Signs / Symptoms: E. Narcolepsy Narcolepsy: a condition characterized by recurrent sleep phenomena during wakefulness Terms: o Hypnagogic: happens when falling asleep o Hypnopompic: happens when waking up Part 2: Neurological Disorders A. Cerebrovascular Accident Terms to Know: thrombus vs. embolus (associated with ischemic strokes) 1. Thrombus: clot formed within a blood vessel that impedes blood flow ; commonly secondary to atherosclerosis 2. Embolus: piece of a thrombus that has broken off and is carried by the circulation to somewhere else. May be fat, air, tumor, bacteria, foreign body, etc. a. Associated with a risk of recurrent stroke 46 Version: August 2024  Ischemic Stroke: occurs when an artery in the brain is blocked, resulting in ischemia (reduced blood flow) to an area of the brain o Most common type of stroke (80-85% of all CVA) Hemorrhagic Stroke: occurs when a weakened artery ruptures. o Common causes: o Accounts for 15-20% of all CVA Transient Ischemic Attack (TIA): temporary occlusion typically resulting in non-permanent damage and resolving within minutes o Increases risk of subsequent stroke o Lasts several minutes and then resolves o Often referred to as a “mini-stroke”. Technically, this is not correct as no permanent brain tissue damage occurs o Causes: a clot, narrow vessel and / or restricted blood flow from the carotid arteries o TIA = Temporary episode, Impending stroke, Antiplatelet CVA Signs and Symptoms: BE FAST → balance, eyes, face, arms, speech, TIME 47 Version: August 2024 B. Traumatic Brain Injury Diffuse Brain Injury: unable to see specific areas of damage on imaging o Concussion: mild traumatic brain injury caused by impact to the head or whiplash ▪ Signs/ Symptoms: o Diffuse Axonal Injury: moderate to severe traumatic brain injury, shearing of axons due to rotation, shaking (violent movement of the brain within the skull) ▪ Signs/ Symptoms: Abnormal Posturing: o Decorticate (flexor posture): ▪ FLEXED arms and wrists ▪ Extended legs, rotated inward o Decerebrate (extensor posture): ▪ EXTENDED head (arched back) ▪ EXTENDED arms and elbows EXTENDED legs, rotated inward o Note: legs will be extended and rotated inward in both decorticate and decerebrate posturing o Indicative of deep, severe brain injury Coup-Contrecoup: a contusion present at both the site of impact and the exact opposite of the impact o Coup: occurs at the point of trauma/initial site of impact 48 Version: August 2024  o Contrecoup: occurs directly opposite the point of trauma Hematoma and intracranial hemorrhage: o Epidural hematoma: tear in an artery between the skull and the dura mater ▪ Fast bleeding, severe o Subdural hematoma: rupture of a vein between the dura and the arachnoid mater ▪ Typically a slow bleed (not always) o Intracerebral hemorrhage: bleed within the brain tissue ▪ Typically due to ruptured aneurysm secondary to hypertension ▪ May also be due to trauma o Subarachnoid hemorrhage: bleed under the arachnoid mater ▪ Typically due to ruptured berry aneurysm ▪ May be due to trauma C. Increased Intracranial Pressure (ICP) Normal Intracranial Pressure (ICP): 10-15 mm Hg o Brain uses 20% of the body’s oxygen and 25% of the body’s glucose o When ICP > 20 mmHg, the brain no longer receives enough oxygen and glucose 49 Version: August 2024  Signs of increased ICP: o Late signs: Cushing’s Triad: LATE sign of increased ICP o Increased BP o Decreased HR o Decreased Respiratory Rate (bradypnea) Intracranial Pressure = Blood volume + Brain Tissue + Cerebrospinal Fluid (CSF) o Blood volume changes: ▪ Vasodilation ▪ Venous obstruction ▪ Severe HTN ▪ Bleeding o Brain Tissue Increase: ▪ Brain tumor ▪ Brain edema ▪ Intracerebral hemorrhage o CSF Increase: ▪ Excessive production ▪ Reduced drainage Hydrocephalus: a condition characterized by excess cerebral spinal fluid (CSF) due to either blockage of the draining system (most common) or overproduction of CSF o Most commonly presents as a congenital abnormality ▪ Treatment: surgical shunt ▪ If left uncorrected, may lead to brain damage and developmental delay o Hydrocephalus Signs and Symptoms: ▪ Infant: ▪ Adult: Think: Increased ICP! 50 Version: August 2024  Herniation: a condition in which increased ICP causes the brain to be compressed and brain tissue to move from one intracranial compartment to another o Sign of a severe brain injury o General Signs and Symptoms (think increased ICP!): o Uncal herniation: part of the temporal lobe herniates (pushes down) through the tentorial notch, compressing cranial nerve 3 and the posterial cerebral arteries ▪ May see: papilledema, “blown pupil” (fixed and dilated), down / out eye D. Spinal Cord Injury Spinal Cord Injuries: Type of disability that occurs depending upon location / extent of injury. o Loss can be temporary or permanent 51 Version: August 2024  Partial Complete Transection Transection Paraplegia Quadriplegia (T1 or lower) (C8 or above) Types of Spinal Cord Injuries: Flexion Injury Hyperextension Injury Compression Injury Subluxation Injury (Forward) (Backward) (Downward) Fracture or dislocation Leads to torn Axial load to the Vertebral body slides back of vertebral body ligaments and spinal spinal column causing (mild form of dislocation) instability a compression fracture MVA Fall hitting chin on Diving into a pool Falling off a horse the way down 52 Version: August 2024  Spinal Cord Injury: Types of Shock Spinal Shock Neurogenic Shock Initial response to injury Loss of sympathetic activity (located along spinal cord) 1. Loss of deep tendon reflexes 1. Hypotension (bc vasodilation) 2. Loss of motor and sensory functions below 2. Bradycardia (bc unopposed injury parasympathetics) Last days to months Occurs within 30 min of injury up to 6 weeks Autonomic Dysreflexia: sympathetic hyperactivity from a painful stimulus (constipation, distended bladder, tight clothing) o Occurs in clients with a spinal cord injury at T-6 or higher ▪ Vasodilation above the level of injury ▪ Vasoconstriction below the level of injury o Chronic condition (may occur over the client’s lifetime) o Signs / Symptoms: E. Assorted Neurologic Conditions Seizures: generalized vs. focal o Seizure definition: a condition defined by disturbed electrical activity in the brain. ▪ Primary: no known cause ▪ Secondary: underlying cause (example, trauma) o Risk factors: o Status epilepticus: Headaches: 53 Version: August 2024  o Sinus: o Tension: o Migraine: o Cluster: Bell’s Palsy: a condition characterized by unilateral paralysis of the facial nerve (Cranial Nerve 7) o Causes: ▪ Most cases are idiopathic (no known cause) ▪ Associated with herpes infection and Lyme disease o Prognosis: 95% of cases return to normal Meningitis: inflammation of the meninges, commonly caused by infection, head trauma or autoimmune disease o Inflammation → swelling → increased ICP → risk of death o Signs / Symptoms: Encephalitis: a condition characterized by inflammation of the brain o Damage may occur due to both the cause of the inflammation and the subsequent inflammation of brain tissue Causes How Signs/Symptoms Tests Infectious Viruses (ex. HSV, rabies) Infection breaches Flu-like symptoms Blood tests Bacteria the BBB Dizziness Type Fungi Malaise Medical Imaging Parasites Vomiting 54 Version: August 2024  Fever CSF analysis Photosensitivity Inability to speakParalysis Behavior Change Autoimmune Autoimmune disease Body attacks itself Confusion Blood tests Psychosis Type Movement disorderSeizure Medical Imaging Hallucination Memory loss CSF analysis Spina Bifida: an opening in the lining of the spinal canal that forms during development, commonly caused by a folate deficiency 55 Version: August 2024 Module 6 – Week 6 Module 6 Topics // Musculoskeletal Disorders, Skin Disorders, Burns Part 1: Musculoskeletal Disorders A. General Concepts and Priority Assessments Primary Survey: used to identify life threatening conditions in the setting of trauma o Airway: o Breathing: o Circulation: o Disability: o Exposure: Priority Assessment: used to identify the health of surrounding tissue in the event of a fracture or dislocation o Specifically used for Compartment Syndrome o The assessment looks to see if the bone has damaged the nerves or arteries within the surrounding tissues - “The 6 P’s” ▪ Pain: ▪ Pulse: ▪ Pallor: ▪ Paresthesia: ▪ Paralysis: ▪ Poikilothermia: B. Spinal Alignments Kyphosis, Lordosis, Scoliosis 56 Version: August 2024  Ankylosis: o Healthy spine → inflammation of joints → fusion of bones, “Bamboo Spine” Bursitis: (NOT a spine condition, generally a JOINT condition in the shoulder, hip or elbow) o Inflammation of the bursa (small sacs of synovial fluid o Common locations: shoulder, hip, elbow (SHE) o Signs and symptoms: C. Fractures Types of Fractures (Most often occur when more force is applied to the bone than the bone can withstand Common causes: o Falls o Trauma o Direct Injury o Overuse/repetitive motion o Disease 57 Version: August 2024  Signs and Symptoms: remember that bone is tough and can damage the surrounding nerves, veins and arteries during or after a fracture occurs o Hematoma o Swelling at the site of injury o Crunch audibility o Resizing the injured area o Open fracture with visible bone fragments in the wound o Unnatural limb position o Mobility restriction o Soreness at the site of injury Complications of fractures: o Compartment syndrome o Dislocation o Vascular injury o Avascular necrosis of the bone o Non=-union of the bone o Fat embolism o Infection (osteomyelitis) o Nerve injury o Traumatic osteoarthritis o Deep vein thrombosis (DVT) / Pulmonary embolism (PE) Osteomyelitis: infection of the bone 58 Version: August 2024  o In an open fracture, the bone breaks the skin and is exposed to the outside environment, which is filled with bacteria ▪ Bacteria can enter the bone and create infection, which will further damage the bone and sometimes lead to ulceration of the skin ▪ If left untreated, the bacteria can enter the bloodstream RISK OF SEPSIS Compartment Syndrome o “The 6 P’s of Ischemia” ▪ ▪ ▪ ▪ ▪ ▪ Fat Embolism: a condition associated with trauma and fractures of long bones or pelvis, leading to fat molecules entering circulation and blocking blood vessels o Signs and Symptoms ▪ Confusion: ▪ Petechiae: ▪ Shortness of breath: Fracture Healing: study tip – remember that fractures are HardC.O.R.E 59 Version: August 2024  Joint Dislocation: A condition characterized by the separation of two bones where they meet a joint D. Soft Tissue Injury Strain vs. Sprain o Strain: ▪ T for Tendon ▪ Lower back / Hamstrings o Sprain: ▪ Ligament involvement ▪ Ankle Soft Tissue Injury: Treatment = RICE 60 Version: August 2024  Contusion, Ecchymosis, Hematoma o Contusion: o Ecchymosis: o Hematoma: E. Shoulder / Knee Injuries Rotator Cuff Injury (Shoulder): an injury to the muscles that stabilize the humeral head in the glenoid fossa o Remember: SITS ▪ Supraspinatus ▪ Infraspinatus ▪ Teres Minor ▪ Subscapularis Knee Injury: o ACL injury – most commonly caused by a dynamic valgus positioning ▪ Femoral adduction ▪ Knee abduction 61 Version: August 2024  ▪ Ankle eversion ▪ Think: twisting motion → common in skiing, sports o Testing for ACL Injury : Anterior Drawer Test ▪ Client is on their back with knee at a 45-degree angle ▪ Place thumbs on patella and pull forward as if opening a drawer No movement = negative (no ACL injury) Movement = positive (likely ACL injury) Meniscus Injury: 62 Version: August 2024 F. Assorted Bone and Joint Disorders Osteoarthritis: NOT a systemic disease o “Wear and tear” disorder where cartilage wears down and chondrocytes secrete proteases that destroy joints o Osteophytes and bone cysts form below damaged cartilage o Slow progressing, non-inflammatory, irreversible o Risk factors: Osteoporosis: metabolic bone disease that results from osteoclastic bone resorption o No compensation from osteoblasts o Lost of cancellous bone resulting in pathological fractures leading to increased fall risk o Risk factors: o Signs / Symptoms: o Testing: DEXA scan (bone density test) Osteomalacia: a condition characterized by the softening of the bones, caused by impaired bone metabolism and leading to reduced bone mineralization o Known as Rickets in children o Causes: 63 Version: August 2024  o Signs / Symptoms: o Clinically: ▪ Low Vit D ▪ Low Calcium ▪ Low Phosphate ▪ High PTH Paget’s Disease: a condition characterized by excessive bone resorption and abnormal bone growth leading to weak and misshapen bones o Typically asymptomatic Septic Arthritis: o Red, painful, swollen joint o Joint aspiration will show bacteria o Lab tests: elevated WBC, ESR, CRP o Risk Factor: prosthetic joint / joint replacement Carpal Tunnel: compression of the median nerve inside the carpal tunnel o Median nerve has both motor and sensory fibers → symptoms may be a combination of motor and sensory o Signs / symptoms: 64 Version: August 2024  ▪ Worse at night and early morning o Carpal Tunnel Tests: ▪ Tinel’s Test ▪ Phalen’s Test Rhabdomyolysis: a condition characterized by the breakdown of muscle o Acute condition o May lead to permanent disability or fatality o Patho: muscle injury and muscle death release myoglobin, K+ and CK into the blood o Causes: o Signs / Symptoms: o Treatment: Part 2: Skin Disorders A. Skin: Lesions, Acne, Rosacea and More Skin Lesions: o Macule: o Papule: o Vesicle or blister: o Ulcer: 65 Version: August 2024  o Nodule: o Pustule: o Plaque: o Fissure: Acne: chronic inflammatory skin condition involving the pilosebaceous unit o 3 factors: ▪ Increased sebum production ▪ Abnormal keratinization of follicles, causing them to block / plug ▪ Propionibacterium acne bacteria divide in the follicles o Androgens increase occurrence (onset often at puberty) o Acne Vulgaris: pripionibacterium grows in the oil gland pores ▪ Affects 80% of adolescents and young adults ▪ What can make our acne WORSE? TRUE FALSE Medications (ex. Corticosteroids) Water based cosmetics High carbohydrate diet Hygiene Stress Chocolate Oil-based cosmetics Greasy food Rosacea: chronic inflammatory skin condition that causes reddened skin on the nose and cheeks of the face o Associated with visual disturbance Vitiligo: autoimmune destruction of melanocytes leading to absence of melanin in the skin 66 Version: August 2024  Albinism: autosomal recessive genetic condition in which an individual lacks pigmentation o Associated with skin cancers and eye abnormalities Xerosis: dry skin o Common causes: B. Infectious Skin Disorders Bacterial Skin Infections: staphylococcus or streptococcus bacteria commonly cause skin infections. Where they cause infection and how they present give us a variety of skin conditions o Impetigo: superficial skin infection associated with poor hygiene ▪ Very contagious o Cellulitis: infection of the subcutaneous tissue, in which bacteria invade through injury, dry skin or open sores ▪ Purulent drainage is contagious if there are any open sores o Methicillin-Resistant-Staphylococcus-Aureus (MRSA) infection ▪ Difficult to treat because of resistance to antibiotics ▪ Signs and symptoms may include painful, red bumps that can resemble pimples Complications of bacterial skin infections o Bacteria can spread to the bloodstream ▪ Bacteremia → sepsis o Chronic swelling of the affected limb o Inflammation of lymphatic vessels o Tissue death / gangrene 67 Version: August 2024  o Amputation o Death Fungal Skin Infections o Superficial ▪ Overgrowth of fungal organisms that live on the and typically do not cause infection unless the host body becomes. ▪ Prefer warm, moist areas ▪ Candida / Tinea o Deep: ▪ Serious fungal infection that can spread throughout the body and is typically representative of significant (clients with chronic diabetes or HIV) Tinea (Ringworm), fungal: Tinea is a superficial fungal infection, does not spread to internal organs o Signs / Symptoms: o Thrives in warm, moist areas on the skin o Usually easily treated with anti-fungal creams Candida (Yeast) : Candida is a yeast infection that also likes warm, moist areas and can be found in the mouth, vagina, GI tract and diaper areas o Oral: ▪ Children > adults ▪ Creamy white lesions (cottage cheese) on tongue, inner cheeks, pharynx, esophagus ▪ Pain w/ feeding + / bleeding ▪ Mother to child via red, itchy, painful nipplesy o Vaginal: ▪ Common ▪ NOT sexually transmitted ▪ Itchy, irritated, burning discharge (cottage cheese) ▪ If frequent occurrence, check for diabetes and immunosuppression o Risk factors for developing a candida infection ▪ Anything that lowers the immune system ▪ Antibiotics ▪ Oral contraceptives ▪ Steroid treatment ▪ HIV ▪ Diabetes ▪ Pregnancy ▪ Chemotherapy 68 Version: August 2024  Seborrheic Dermatitis: a chronic condition likely caused by overgrowth of yeast (Malassezia) that results in excessive flakiness and underlying greasy skin o Signs / Symptoms: Warts (HPV) aka Verrucae Vulgaris: a viral skin infection o A condition caused by versions of the human papilloma virus (HPV) o Commonly spread via skin-to-skin contact or fomite transmission o Most resolve spontaneously, but can take years Herpes Simplex Virus (HSV) 1 and 2: a viral skin infection o Things to know: ▪ Initial outbreak is often the most severe ▪ Characterized by painful, fluid-filled blisters that are highly contagious when they weep) ▪ Subsequent outbreaks are typically less intense and may be accompanied by tingling / numbness prior to a flare-up ▪ Can still transmit even if asymptomatic ▪ Major concern during pregnancy because the HSV2 virus can cover the newborn’s face during delivery → consider Cesarean delivery o HSV1: ▪ Oral – oral contact (kissing) ▪ Commonly known as cold sores / oral herpes o HSV2: ▪ Skin – skin contact / sexual contact ▪ High stigma 69 Version: August 2024  Shingles (Herpes Zoster): Reactivation of the chickenpox virus (varicella zoster) o Patho: latent varicella virus “wakes up” in immunocompromised person with a history of chickenpox infection ▪ Virus travels from the dorsal root ganglion and migrates toward the skin using the nerve as a “highway” ▪ As it migrates along the nerve, it causes intense pain and results in the formation of fluid-filled blisters ▪ After recovery, the nerve can be permanently damaged, leading to post-herpetic neuropathy o Of particular concern is when the nerve affected involves the eye Measles: a viral respiratory illness with effects on the skin o Characterized by eruption of red spots ▪ Start on the head and then descend o Signs / Symptoms: Scabies and Lice (parasitic skin infections) o Scabies: live IN you ▪ Skin infestation in which the mites burrow into the skin and lay eggs 70 Version: August 2024  o Lice: live ON you ▪ Parasitic infection in which the louse lives on the body and feeds off blood The louse will lay eggs in relation to where it prefers to live on the body o E.g. head lice lay eggs in the hair C. Assorted Skin Disorders Atopic Dermatitis (Eczema): a chronic inflammatory disease that causes redness and irritation of the skin o Common in childhood, but anybody at any age can get it o Typically presents as a rash on the flexor surfaces of the body ▪ Behind the knee ▪ Crook of the arm o Dry and itchy skin o Associated with asthma and allergic conditions o Assess for secondary infection due to intense scratching Psoriasis: an autoimmune condition with a genetic component that is characterized by irregular skin regeneration o Plaque psoriasis is characterized by proliferation of skin cells within a given location leading to the formation of silvery, “fish scale” plaques that can bleed if scratched ▪ Typically presents as a rash on the extensor surfaces of the body Kneecap Elbow Urticaria: a raised, itchy rash that appears on the skin o Observed in allergic responses o IgE mediated histamine release causes increased vascular permeability, leading to the formation of the wheal shape combined with the inflammatory redness of the flare Alopecia: a group of conditions characterized by hair loss o In the areata form, the immune system mistakenly attacks the hair follicles, leading to inflammation and breakage o Early sign: single, small, round patch of hair loss 71 Version: August 2024 D. Ulcers Pressure Ulcers: ischemic area caused by impaired blood flow due to unrelieved pressure, leading to skin breakdown and ulcers Extrinsic factors: Intrinsic factors: Venous stasis ulcers: dysfunction of venous valves leads to an accumulation of fluid in the lower extremity, resulting in edema and subsequent tissue damage Part 3: Burns A. Burns: Background Information Burn characterization o 1st Degree: ▪ Superficial 72 Version: August 2024  ▪ Red, dry, painful ▪ NO blisters o 2 Degree: nd ▪ May be superficial or deep ▪ Painful, red ▪ YES blisters ▪ May lose sensation and may require surgery o 3 Degree: rd ▪ May appear tan, brown, black, leathery ▪ NO pain sensation, NO blisters ▪ Requires surgery (debridement) o 4 Degree: th ▪ Extends down to bone, fat or muscle ▪ Charred, often requires amputation Burn complications o Skin infections / sepsis ▪ No skin protection – microorganisms overwhelm the immune system o Hypovolemic shock and pre-renal acute kidney injury ▪ Massive edema and hemodynamic instability o Hypothermia ▪ Loss of body temperature regulation o Respiratory dysfunction o Extreme metabolic demand Rule of Nines: Used to calculate total body surface area (BSA) percentage on a client with burns o The skin surface of the body is divided by 9s in order to provide a quick estimation/reference for the extent of a burn ▪ Allows for understanding of how much fluid is required for fluid resuscitation 73 Version: August 2024  ▪ Note: infants have different proportions B. UV Radiation and Sunburns UV Damage to Skin: o Sunlight and tanning beds release UV radiation that damages the skin o UV rays can cause damage to the DNA leading to mutations and cancers o UV rays also promote free radical formation and reduced antioxidants, leading to further damage of the skin architecture o Sunburn: ▪ An example of UV mediated damage ▪ Inflammatory reaction that can cause fever, weakness, malaise and pain Skin Cancer: o Basal cell carcinoma – rarely metastasizes o Squamous cell carcinoma – metastasizes to lymph nodes / organs o Melanoma – high risk of metastasis ▪ Most lethal Risk factors for developing skin cancer: Moles: dysplasia leads to increased risk of melanoma 74 Version: August 2024  75 Version: August 2024  76 Version: August 2024 Module 7 – Week 7 Module 7 Topics // Genetics Part 1: Background Information A. Genetics: A Review Nucleotides to Chromosomes Genes to Genomes o Locus (chapter) o Gene (recipe) o Allele (versions of the same recipe) o Chromosomes (cookbook) o Genome (set of cookbooks) Transcription o “Same language” o DNA to RNA 77 Version: August 2024  Translation o “Different language” o RNA to AA 78 Version: August 2024  Central Dogma of DNA Terminology o Genome: o Gene: o Transcription: o Translation: o Chromatin: o Chromosome: o Locus: o Allele: B. Cell Division Mitosis (cell division): a single cell divides into two identical daughter cells o Purpose: replace worn out cells o Diploid → Diploid 79 Version: August 2024  Meiosis: a sperm or egg divides over a series of steps in order to be ready to pass on genetic information during reproduction o Purpose: pass on genetic information from one generation to the next o Diploid → Haploid C. Genetic Concepts Single vs. Polygenic gene trait o Single Gene Trait ▪ 1 gene: 2 possible phenotypes A “simple” gene that only presents as 2 options: YES or NO Example: Widow’s peak – you have it or you don’t o Polygenic Gene Trait ▪ Many genes regulate inheritance Complex mixture of many genes lead to multiple phenotypes Examples: cardiovascular health, height, etc. Mutations: changing the structure of a gene, which can be transmitted to future generations o The mutation can result in: ▪ No change in the gene 80 Version: August 2024  ▪ A new variation of the gene o Cancer is an example of a mutation Chromosome: a pair of homologous chromosomes (the same chromosome, but one is from the sperm donor and one is from the egg donor) o The LOCus is the LOCation in which a gene is found on a chromosome o Variations of a gene at a given locus are called ALLELES o In order to understand genetics better, we use: ▪ CAPITAL letters to designate alleles that are DOMINANT ▪ Lower case letters to designate alleles that are recessive 81 Version: August 2024  Terminology o Gene: o Chromosome: o Locus: o Allele: o Phenotype: o Genotype: Part 2: Inheritance Patterns A. Autosomal Dominant Autosomal dominant condition: a genetic condition in which only 1 dominant allele is needed to express the condition Possible variations that would result in a person having an autosomal dominant condition o 2 dominant alleles ▪ Homozygous Dominant 82 Version: August 2024  o 1 dominant allele and 1 recessive allele ▪ Heterozygous Examples of autosomal dominant conditions o Huntington’s Disease o Marfan Syndrome ▪ Major concern with this condition is aortic dissection B. Autosomal Recessive Autosomal recessive condition: a condition in which you need 2 copies of the recessive alleles are necessary to express the condition Possible variations that would result in a person having an autosomal recessive condition: o 2 recessive alleles 83 Version: August 2024  ▪ Homozygous recessive Heterozygous persons are considered carriers because while they do not have the disease, they can pass it on Punnett Square Examples: Examples of autosomal recessive conditions o Cystic fibrosis o Sickle cell disease o Tay-Sachs disease o Phenylketonuria (PKU) Cystic Fibrosis: o Involves 3 systems – respiratory, GI, reproductive o Disease characteristics: C. X-Linked Recessive X-Linked recessive condition: a recessive condition (need the lower-case letters) BUT has an extra “rule” o The condition is X-linked, so need to consider the sex chromosomes present ▪ A person born with XX chromosomes follows the typical recessive pattern (needs 2 copies to be affected) ▪ A person born with XY chromosomes only needs 1 copy to be affected o Examples of X-linked recessive conditions ▪ Hemophilia A / B ▪ Red-Green color blindness ▪ Duchenne Muscular Dystrophy 84 Version: August 2024  Punnett Square Examples: X-Linked Recessive D. Steps to Mastering Inheritance Pattern Questions 1. Identify the inheritance pattern you’re being asked about a. Let key words associated with a specific pattern help you b. Memorize some of the more common conditions c. Know whether the condition is autosomal or X-linked 2. Fill out a Punnett Square with information from the question a. Again, a key word can be vital in providing critical and helpful information 3. Know the “rules” of interpreting the inheritance pattern you identified 4. Select your answer Part 3: Chromosomal Disorders, Teratogens, Pharmacogenetics A. Chromosomal Disorders Karyotype 85 Version: August 2024  Nondisjunction Errors: an error in meiosis in which genetic material is not appropriately divided amongst dividing cells, leading some sperm / eggs to have either EXTRA genetic material or MISSING genetic material Trisomy 21 (Down Syndrome Klinefelter’s Disease (Trisomy XXY): o Characteristics: 86 Version: August 2024  Turner Syndrome (Monosomy XO) o Characteristics: B. Teratogens Teratogen: any substance or agent that can cause fetal malformation Common causes: Infectious Teratogens (TORCH) o Toxoplasmosis 87 Version: August 2024  o Other diseases (syphilis, Parvo B19, varicella zoster virus, listeria) o Rubella o Cytomegalovirus o Herpes Simplex Virus-2 C. Pharmacogenetics Pharmacogenetics: the study of an individual’s genetics and how those genetics help that person process and metabolize medications o Specific to an individual o Steps: 1. Pharmacogenetic testing is ordered 2. Sampling of biomaterial occurs 3. Analysis and report generated 4. Review results with client 5. Develop catered care plan based on results 88 Version: August 2024  89 Version: August 2024 Module 8 – Week 8 Module 8 Topics // Endocrinology; Endocrine Disorders Part 1: Endocrinology A. Endocrine System vs. Nervous System B. Hypothalamus Acts as a “control center” that receives input and decides whether to act or not Master gland: secretes ADH & Oxytocin Autonomic Center o Receives input from Pons/ Medulla Oblongata Subconscious facial expressions Regulates circadian/ sleep/ mood cycles/ body temp 5 F’s o o o o o C. Endocrine pathway 90 Version: August 2024 D. Positive vs. Negative Feedback Negative Feedback: the endocrine system relies on a feedback system where the results of a change are taken into consideration before continuing with the change or stopping it o Negative Feedback: turns off the stimulus o Example of NEGATIVE FEEDBACK: ▪ Thermometer senses it is cold and sends message to thermostat (B) ▪ Thermostat decides whether thermometer is correct, and if so, sends a message to the heater (C) ▪ Heater receives the message from the thermostat and starts generating heat (D) ▪ The heat brings the temperature back up, wherein the thermometer detects that change and stops telling the thermostat it’s cold ▪ The entire system shuts down until a new change is detected Positive Feedback: the endocrine system relies on a feedback system where the results of a change are taken into consideration before continuing with the change or stopping it o Positive feedback: enhances the stimulus o Example of POSITIVE FEEDBACK: ▪ A pregnant woman has a contraction which causes the fetus to push against the uterus 91 Version: August 2024  ▪ The uterus detects the fetus hitting it and responds by telling the smooth muscle to contract (C) ▪ The smooth muscle contracts and causes another contraction (D) ▪ The contraction causes the fetus to engage with the uterus even more which causes the fetus to push against it ▪ The entire system keeps going until the initial stimulus is removed E. Navigating Endocrine Disorders Endocrine “rules to live by” a. Recognize the endocrine pathway involved b. Write out the pathway i. Start with the hypothalamus → pituitary → target organ c. Add the hormones for each step d. Decide if it follows negative or positive feedback i. HINT: Oxytocin is the only hormone we talk about that is positive feedback e. Apply the changes you see in the condition (or question) F. Hypothalamic-Pituitary-Adrenal (HPA) Axis HPA Axis: the messaging system the endocrine system uses to share what the hypothalamus detects with the adrenal gland 92 Version: August 2024  Examples of HPA Axis disorders Tertiary, Secondary and Primary endocrine disease Part 3: Endocrine Disorders A. Cortisol Disorders Adrenal Cortex and Corticosteroids o Corticosteroids are from the adrenal cortex ▪ Salty: mineralocorticoids ▪ Sweet: glucocorticoids ▪ Sex: androgens o Cortisol ▪ Stress hormone ▪ Functions: 1. Maintain BP 2. Maintain blood sugar 3. Decrease inflammation Cushing’s Disease (too much cortisol) o Cushing’s Syndrome ▪ Excessive cortisol in the blood o Cushing’s Disease ▪ Excessive ACTH (via anterior pituitary), which leads to excessive cortisol 93 Version: August 2024  o Causes of excess cortisol: o Cushing’s Signs/Symptoms: o Corticosteroid Tapering Addison’s Disease (too little cortisol) – sometimes called “Adrenal Insufficiency” o A condition characterized by autoimmune destruction of the adrenal gland 94 Version: August 2024  Cortisol Disorders Recap o Stress hormone o Adrenal cortex o Function ▪ Maintain BP, maintain BG, decrease inflammation o Excess = Cushing’s o Deficient = Addison’s B. Pheochromocytoma 90% caused by benign tumor in the adrenal medulla o Excessive sympathetic activation ▪ Fluctuating levels of epinephrine, norepinephrine, dopamine o Signs / Symptoms: ▪ Paroxysmal: a. Headache, diaphoresis, pallor, palpitations, anxiety tachycardia, abdominal pain, nausea, flushing, tremors C. Thyroid disorders Thyroid hormone: important for regulation of metabolic functions 95 Version: August 2024  o Weight, energy levels, internal temperature, skin/hair/nail health Thyroid Imbalances o Hypothyroidism – metabolism turned o Hyperthyroidism – metabolism turned Hypothyroidism 96 Version: August 2024  o Primary Hypothyroidism Example: Hashimoto’s Thyroiditis ▪ Autoimmune destruction of the thyroid gland Hyperthyroidism o Grave’s disease ▪ An autoimmune condition where antibodies target TSH-RECEPTORS on the thyroid gland causing release of excess TH ▪ Thyrotoxic crisis (thyrotoxic storm) a. May occur if hyperthyroidism left untreated b. Life-threatening condition where thyroid hormones are elevated in the bloodstream leading to fever, tachycardia, agitation, etc Hypoparathyroidism o Causes: o Signs/symptoms: ▪ CATS: ▪ Chvostek Sign: ▪ Trousseau Sign: 97 Version: August 2024  Goiter D. Growth hormone disorders Growth hormone background (somatotropin) o Functions: ▪ Cell growth ▪ Protein synthesis ▪ Lipid mobilization ▪ Anabolic ▪ Promotes growth in skeletal muscles/ bones/ cartilage Pituitary adenoma o Tumor of the pituitary gland o Most common cause of excessive pituitary hormones Gigantism o Excessive levels of growth hormone PRIOR to the fusion of the epiphyseal growth plates o Signs/ symptoms: Acromegaly o Excessive levels of growth hormone AFTER fusion of the epiphyseal growth plates o Signs/ symptoms: 98 Version: August 2024  ▪ Large: Dwarfism o Hyposecretion of growth hormone during childhood o Signs/ symptoms: E. Antidiuretic hormone disorders Key terms: o Osmolality: the concentration of solutes (or “stuff”) in a solution ▪ The more “stuff” the higher the osmolality o Specific Gravity: the concentration of solutes (or “stuff”) in the urine ▪ The more “stuff” the more concentrated the urine will be SIADH (syndrome of inappropriate antidiuretic hormone) o Excessive ADH= excessive reabsorption of water o Signs/ symptoms: Diabetes Insipidus o No ADH = Excessive loss of water o The absence of ADH results in water loss, leading to amounts of urine o As a result, 2 processes happen: the volume of fluid circulating in the body , as urine. o Therefore, as the plasma volume decreases, the plasma osmolality and as the urine volume increases, the urine osmolality. Another test you may see for urine is the specific gravity. o Additionally, the concentration of sodium in the blood vessel increases as more water is lost in the urine, leading to. o Signs/ symptoms: 99 Version: August 2024  ▪ Hypernatremia results in: thirst, lethargy, fatigue, confusion, muscle twitching, seizures, and coma F. Diabetes mellitus Insulin o Released when Glucose is HIGH o Helps glucose enter the cells o Lowers circulating levels of glucose o Prevents the breakdown of fat o All parts of system work together to maintain homeostasis: 70-120 mg/dL Glucagon o Released when glucose is low o Causes releas