Module 1 Outline and Study Guide PDF

Chapter 1 Outline The Cell 1. Cellular Structure a. Plasma membrane i. Semi-permeable barrier ii. Outer surface contains glycoproteins (antigens) – identifies cell, important for detecting itself and differentiating...

Chapter 1 Outline The Cell 1. Cellular Structure a. Plasma membrane i. Semi-permeable barrier ii. Outer surface contains glycoproteins (antigens) – identifies cell, important for detecting itself and differentiating from foreign cells (self vs non-self-recognition – plays a role in autoimmune, allergies, transplant rejection, blood transfusion rxt) iii. Cellular Edema – caused when excess fluid is allowed to enter the cell, causing swelling of the cell iv. Cellular Dehydration – caused when intracellular fluid is leaked out through pores, causing cell to shrink v. EVERYTHING MUST BE IN SYNC AND JUST RIGHT!!! b. Cytoplasm i. Gelatinous liquid that suspends structures inside the cell, water, ions, proteins, carbs, lipids c. Organelles i. “Small organs” of the cells. Include all listed below d. Mitochondria (maternal) i. Powerhouse of the cell (more activity = more mitochondria) ii. Cells need energy to function iii. Contains own DNA, can reproduce iv. Generates ATP through 1. aerobic (requires O2) metabolism a. net yield of ATP: 34 ATP b. glucose -> pyruvate -> Krebs cycle 2. anaerobic (no O2/hypoxia) metabolism (glycolysis – outside of mitochondria, glucose -> pyruvate -> lactic acid WHICH ALTERS pH = acidosis) a. net yield of ATP: 2 ATP e. Lysosomes (small) i. Clean up and recycle w/ digestive enzymes ii. Autolysis – cell death with release of enzymes via lysosomes iii. Heterolysis – process of using lysosomes to ingest foreign material via macrophages iv. Macrophages – WBC that contain huge number of lysosomes v. Lack of lysosomes cause accumulation of harmful substances (Tay-Sachs) vi. Other organelles similar 1. Proteasomes – degrade proteins and polypeptide chains (accelerated activity associated w/ cachexia) 2. Peroxisomes – degrade free radicals and long chain fatty acids (dysfunction = adrenoleukodystrophy, nervous system)  f. Endoplasmic reticulum i. Smooth ER: location for lipid production (ex. corticosteroids, oils, phospholipids) ii. Rough ER: has ribosomes attached to synthesize proteins (very important) g. Ribosomes i. “Protein factories” where protein synthesis (creation/building of new proteins) h. Golgi apparatus i. Processes, packages, and secretes proteins after production ii. Preprohormone -> ER -> prohormone -> golgi -> hormone (ex: insulin) i. Nucleus i. Contains genetic material (DNA), also regulates cellular activity ii. Purines = NINES (AG) iii. Pyrimidines = CT j. Secretory vesicles – formed from ER-golgi system, contains substances secreted by cell k. Microtubules – hollow filaments that help with cell division and intracellular transport l. Microfilaments – solid, flexible fibers that help with cell movement (in muscles) 2. Cellular function (normal = homeostasis) Commented [NH1]: Positive feedback encourages a a. Growth, energy production/metabolism, replication, protein synthesis process to continue or amplify a change, while negative feedback works to counteract a change and bring a system i. When one of these are disrupted, that’s when disease arise back to a stable state b. Sodium potassium pump (drugs can alter) i. Establishes resting cell membrane potential and maintains fluid volume ii. Normally, more Na is outside and more K is inside 1. Potassium normally leaks out, there must be a mechanism to balance K and Na, osmosis creates a pressure gradient of water 2. Uses ATP via active transport iii. What happens when excessive sodium is left inside the cell? 1. Osmosis gravitates water toward Na so the cell is likely to swell, disrupting function, cellular edema iv. How many Na and K ions are moved during the pump cycle? 1. 3 Na out 2. 2 K in 3. DNA replication (semi-conservative) a. Double helix of nucleotide bases (AT, GC) i. Replication = DNA -> DNA b. Transcription i. Where does it occur? What happens? ii. DNA -> mRNA, occurs in nucleus c. Translation i. Where does it occur? What happens? ii. mRNA -> tRNA which encodes a codon, occurs in ribosomes leading to protein synthesis by forming polypeptide chain Chapter 1 Study Guide (3 Questions) Cellular structures – What is their function? Why are they important for the cell? ▪ Plasma membrane – semi-permeable barrier that contains antigens (glycoproteins) on the surface, contains cell contents and protects it ▪ Sodium-potassium pump – establishes resting cell membrane potential and maintains fluid volume, more Na outside and more K inside at baseline but K leaks ▪ Uses active transport (ATP) to balance ▪ Each cycle 3 Na out and 2 K in ▪ Mitochondria – powerhouse (more activity means more mitochondria), generates ATP net yield of 34 ATP with aerobic, 2 ATP with anaerobic ▪ Lysosomes – clean up and recycle cell contents with digestive enzymes ▪ Autolysis – cell death w/ release of enzymes via lysosomes ▪ Heterolysis – process of using lysosomes to ingest FB w/ macrophages ▪ Macrophages – WBC w/ large # of lysosomes ▪ Rough Endoplasmic reticulum – has ribosomes to synthesize proteins ▪ Smooth Endoplasmic reticulum – lipid production ▪ Ribosome – protein synthesis ▪ Secretory vesicles – formed from the ER-golgi system, transports substances secreted by cell, controls the release of hormones, NTs, enzymes ▪ Microtubules – hollow filaments that help with mitosis and ITC transport ▪ Microfilaments – solid flexible fibers that help with cell movement (especially in muscles) ▪ Nucleus – contains DNA (purines (NINES) and pyrimidines (CT)), regulates cell activity 1. What is an antigen? What does it identify? ▪ a type of glycoprotein that identifies cells ▪ important for detecting itself and differentiating from foreign cells ▪ plays a role in autoimmune, allergies, transplant rejection, or blood transfusion reactions 2. Describe the sodium/potassium pump - mechanism, function, and what is happening both in/out of cell. ▪ Establishes resting cell membrane potential and maintains fluid volume ▪ Normally, there is more sodium than potassium outside cells, K leaks out at baseline so there must be mechanism to balance things ▪ The pump uses active transport (ATP) to pump 3 Na out and 2 K in each cycle 3. What is ATP? Why do cells need ATP? What are the two main ways ATP is formed?  ▪ ATP is energy for the cell needed for daily function like movement and protein synthesis ▪ Formation ▪ Aerobic (O2) metabolism – 34 ATP (glycolysis, glucose -> pyruvate -> Krebs) ▪ Anaerobic (hypoxia) metabolism – glycolysis only (glucose -> pyruvate -> lactic acid as biproduct which decreases pH) 4. What is special about ribosomes? ▪ The site where protein synthesis occurs 5. DNA consists of nitrogenous bases, what are the two types, and what are their two subtypes that form the bonds for all DNA (genetic) material? ▪ Purines (NINES) – guanine, adenine ▪ Pyrimidines (CT) – cytosine, thymine 6. How are the nitrogenous bases paired? Ex what bond with what? ▪ Pairing ▪ GC ▪ AT 7. What are the two processes of protein synthesis? ▪ Transcription and Translation 8. Describe the process of transcription and translation? ▪ Transcription ▪ DNA → mRNA in nucleus ▪ Translation ▪ mRNA → tRNA which encodes a codon, forms polypeptide chain eventually into a protein, occurs in ribosomes Chapter 2 Outline Cell injury, adaptation, and maladaptive changes 1. Terminology a. Etiology – original cause of cell alteration or disease state (ex: streptococcus is the etiology of strep) i. Ex, an infection, or trauma ii. When a cell is stressed to much what happens? 1. CAUSES DISRUPTION IN HOMEOSTASIS. Cells will adapt or develop a maladaptive change (derangement of structure/function of cell, can be reversible or irreversible 2. Over time it causes cell death b. Histology – microscopic study of tissue c. Biopsy – procedure where you extract a sample for histological analysis d. Autopsy – examination of deceased tissue of organism to determine cause of death e. Pathognomonic changes – unique, identifying disease presentations (physical exam, ex: crater structure in stomach = ulcers = indicate gastric ulcer disease) f. Atrophy i. Wasting or shrinking (occurs when cells environment cannot support its metabolic requirement) ii. Use it or lose it. Ex Big muscles get smaller if person is sedentary. g. Hypertrophy i. Growth/increase in individual cell size, leads to greater metabolic demand and energy needs. ii. Think lifting weights makes muscles bigger iii. What is the difference between physiological and pathological hypertrophy? 1. Physiological – exercising, cell enlargement with adequate supporting tissues (angiogenesis), good blood flow, body adapts, more energy for it 2. Pathological - increase in cell size but no change in support structures, leads to disease process (ex: cardiomegaly) h. Hyperplasia i. Increase in number of cells (not the same as hypertrophy), only occurs in cells capable of mitosis (ex: BPH) ii. Keloid scarring is an example of excessive hyperplasia, occurs during wound healing, may require cosmetic surgery, if large enough can cause restriction of joint movement iii. Hormone regulation can cause hyperplasia 1. Estrogen stimulates growth in breast cells during pregnancy i. Metaplasia i. Changing of original cell type to another due to prolonged stress, ensures cell survival, usually with chronic inflammation diseases ii. GERD – occurs when stomach acid regurgitates into the esophagus, after a long time, this will change the cells of esophagus into stomach like cells to survive the high acidic load. j. Dysplasia i. Deranged cellular growth within a certain tissue, often a result of chronic inflammation or precancerous conditions, cells may vary in size, shape, and organization compared to normal  ii. Ex. Cervical dysplasia can be found during a Pap test to indicate precancerous cells. k. Neoplasia (new growth) i. Neoplasm: tumor 1. Can be benign (well-defined borders, looks like other surrounding cells and stays in one area, well-differentiated) or malignant 2. Malignant = disorganized, uncoordinated, uncontrolled cell growth (cancer), tendency to metastasize, POORLY DEFINED borders, poorly differentiated, cells appear different from surrounding cells 2. Cell injury a. Dysfunction of sodium-potassium pump i. Na enters cell in excess and cannot be pumped out of cell ii. Na increases water retention, leads to cellular swelling (edema) b. Dysfunction in protein synthesis i. Can lead to cell death, mitochondrial dysfunction = lack of ATP = protein synthesis failing c. Intracellular accumulations (over time chronically) i. Arteriosclerosis (calcifications) and Aortic sclerosis ii. Excessive deposits – ex. Fatty liver disease (alcoholism, can become dysfunctional) iii. Jaundice 1. Excessive accumulation of bilirubin in bloodstream 2. Yellowish coloration to skin and sclera of the eyes 3. Signals liver dysfunction is occurring d. Hypoxia i. Lack of oxygen to cells (most common cell injury) ii. If prolonged lack of oxygen, significant damage can occur iii. Can be caused by ischemia (most common, obstruction), anemia, or pulmonary complications iv. Leads to anaerobic metabolism, pyruvate acid, lactic acid products, low ATP, lowers pH e. Free radical injury i. Byproduct of aerobic metabolism (reactive oxygen species) ii. Also found in environment (cigarette smoking, pesticides, or toxins) iii. Single unpaired electron with disrupt plasma membrane, but cells defend with enzymes, but if protection is overwhelmed (oxidative stress causing injury, we can counteract with antioxidants, vitamins f. Physical injury i. Falls, cuts, temperature exposure burns frostbite, shock, trauma, ect g. Chemical injury i. Endogenous 1. Ex hypernatremia (causes cellular dehydration and shrinkage, symptoms include lethargy, irritability, confusion) and hyperglycemia (injury to endothelial cells, lining of vital organs), electrolyte imbalance  ii. Exogenous 1. Drugs, pollutants, smoking h. Infections causing injury i. Bacteria, parasites, viruses, fungi i. Immunological reactions i. Autoimmune diseases and chronic inflammation (RA, HIV), attacking owning cells causes chronic inflammation j. Nutritional imbalances i. How can obesity cause cell injury? 1. Excessive fat places pressure on the heart and pancreas leading to cardiac disease and DM, strains joints (arthritis) ii. Cells cannot function without proper amounts of macromolecules, vitamins, minerals, nutrition k. Endothelium injury (lines arterial blood vessels, influenced by blood flow changes, stress, inflammation, substances in blood, also secretes hormone called angiogenesis growth fx, which stimulates synthesis of collateral blood vessel branches (better blood flow to organs, also controls blood pressure by dilation (nitric oxide)/constriction (endothelin secretion) ENDOTHELIAL CELL INJURY IS AN INITIATOR OF ARTHERSCLEROSIS, AND FUNDAMENTAL CELL CHANGE THAT CAUSES CARDIOVASCULAR DISEASE i. May lead to hypertension, DM hyperglycemia, hyperlipidemia, free radicals ii. How does the process of endothelial injury to atherosclerosis occur? 1. Damage to lining of endothelial blood vessels -> inflammatory response WBC adheres then migrates -> LDL accumulate forming plaque, narrows vessels, causing HTN, clots, and other disease iii. Hypertension – high blood pressure force (can be caused by clot formation from atherosclerosis or weaken arterial walls) iv. Aneurysm – weakened area in arterial wall “ballooning” due to prolonged HTN 1. Can lead to rupture or hemorrhage causing a stoke v. Diabetic hyperglycemia 1. Endothelium secretes endothelin very strong “vasoconstrictor” causing arterial narrowing. This progresses the process of atherosclerosis vi. From free radicals 1. Highly reactive, oxidizing molecules, cigarette smoking increases the damage to endothelial cells vii. Endothelial injury increases angiotensin II secretion and vice versa 1. Causes vasoconstriction – increases blood pressure l. Low-density lipoprotein (LDL) cholesterol i. Forms in macrophages forming “foam cells” ii. Leads to plaque formation in artery walls. iii. Decrease in nitric oxide + inflammatory changes of endothelium and LDL deposition in arterial walls cause chronic vasoconstriction and atherosclerosis m. Apoptosis i. Normal occurring cell death, programmed, cleanup  ii. No physiological changes to the body or inflammation iii. If dysfunction occurs, pathological conditions can occur like prostate cancer (decreased apoptosis, uncontrolled cell division without death), spinal muscular atrophy (increased apoptosis) n. Necrosis i. Pathological death of cells (unnatural cell death), cell unable to maintain homeostasis ii. Can be caused by ischemia (hypoxia), injury, stressors iii. Irreversible, initiates inflammatory rxt, membrane disintegrates, lysosomal activation and autolysis iv. Gangrene – can occur when dead tissue becomes infected. 1. Clostridium perfringens – very strong gas smell associated with gangrene. Amputation is normally performed to remove the dead tissue. Tissue will not grow back. o. Infarction i. Ischemic necrosis ii. Death of tissue results from prolonged ischemia (Ex: MI, CVA) 1. Look for cell cardiac proteins like troponin Chapter 2 Study Guide (12 Questions) 1. Describe the differences between physiological and pathological hypertrophy. a. Physiological hypertrophy – caused by exercising, cell enlargement with adequate supporting tissues (angiogenesis), good blood flow, more energy (body adapts to change) b. Pathological hypertrophy – increase in cell size but no change in support structures (leading to disease process like cardiomegaly) 2. When would hypertrophy be beneficial and when can it become harmful? a. Physiological is healthy, pathological is harmful 3. Neoplasms can be benign or malignant, what do these terms mean? How are they defined? a. Neoplasms are new growths i. Benign – growths with well-defined borders like surrounding cells (well differentiated), stays in one area ii. Malignant – growths that are disorganized, uncoordinated, uncontrolled cell growth (cancer) with tendency to metastasize (spread), poorly defined borders and appears different from surrounding cells (poorly differentiated) 4. What happens to the cell when the Na/K pump is dysfunctional? a. When Na/K pump is dysfunctional, Na enters the cell in excess and cannot be pumped out. This causes cellular swelling (edema), increasing water retention 5. Cellular hypoxia is caused by ischemia and anemia, what are these? What happened to the cell if hypoxia is present for a prolonged period of time? a. Ischemia – inadequate blood supply to a cell/body part most caused by obstruction b. Anemia – condition of lower RBCs, lower RBCs means lower HGB which carries O2 to tissues, anemia reduces amount of O2 reaching cells  c. Short-term hypoxia causes anaerobic metabolism (low ATP, lactic acid lowers pH), LONG PERIODS result in cell injury or death (apoptosis or necrosis), meaning organ failure, brain damage, CVA, MI 6. What are some examples of physical agents that cause damage to the cell? How do they damage the cell? a. Free radical injuries like cigarette smoking, pesticides, and toxins b. Falls, cuts, temp exposure (burns, frostbite), electric shock, trauma c. Drugs, pollutants d. Possibly infection (microbes) 7. Describe two types of chemical injuries to the cell. a. Endogenous – cell injury caused by chemicals produced within the body i. Electrolyte imbalance ii. Hyperglycemia b. Exogenous – cell injury caused by chemicals produced outside of body i. Drugs, pollutants, smoking 8. Endothelial cells are influenced by what? What hormone can endothelial cells secrete? Why is it important? What happens when the cells lose the ability to produce the hormone? a. Endothelial cells are influenced by blood flow changes, stress, inflammation, substances in blood, hypertension. They secrete angiogenesis growth factor which stimulates synthesis of collateral blood vessel branches (allowing better blood flow to organs). ALSO secretes nitric oxide which controls blood pressure by dilation. b. If hormone is not produced, new blood vessels aren’t made, reduced angiogenesis leads to ischemia, poor vascular growth increases atherosclerosis and heart disease. Decrease in nitric oxide LEADS TO vasoconstriction, HTN, risk of clots c. Endothelin vasoconstricts 9. What is hypertension? If left untreated what can ultimately occur? a. Elevated BP that can be caused by epithelial injury, atherosclerosis (clot formation), weakened arterial walls b. If left untreated it can lead to cardiovascular diseases, aneurysm 10. Why is Diabetes so harmful to the cells? a. When hyperglycemic, DM causes endothelium to secret endothelin which is a very strong vasoconstrictor causing arterial narrowing progressing atherosclerosis 11. Define the difference between Apoptosis and Necrosis. a. Apoptosis - naturally occurring cell death, programmed, basically cleanup i. No changes to the body or inflammation ii. Decreased function causes uncontrolled cell division (no death) iii. Increased function causes possible atrophy b. Necrosis - pathological (unnatural), IRREVERSIBLE, cell deaths, unable to maintain homeostasis i. Caused by ischemia, injury, stressors which initiate the body’s inflammatory reaction ii. membrane disintegrates, lysosomal activation, autolysis iii. GANGRENE – dead tissue becomes infected, amputation best Chapter 3 outline Genetic Basis of Disease (changes in DNA can be linked to diseases) epigenetic changes (env, outside stressors, behavior, lifestyle) pharmacogenomics (gene function in health, disease, responses to meds) genetics (study of inheritance of genes) vs genomics (interaction with all material) 1. Deoxyribonucleic acid (DNA) a. Double helix structure b. Nucleotide – combination of pentose sugar, phosphate, and nitrogen base c. Base paring i. DNA – adenine, thymine, guanine, cytosine 1. A-T and C-G pairing ii. RNA – Uracil replaces thymine 1. A-U and C-G pairing d. Gene i. Nucleotide sequence. Genes are the basic unit of heredity ii. Introns spliced, exons stay which codes proteins e. Codon i. Set of 3 nucleotides ii. The codon signals a specific amino acid during replication and protein synthesis iii. There are codons to “start” and “end” f. Genetic mutation i. Damage or change to a gene (DNA/RNA) that alters genetic code ii. Inherited or occur spontaneously  iii. Germ cell mutation are passed to offspring, somatic cell mutations AREN’T g. Gene locus i. All genes are identified according to their gene locus or location on a chromosome. ii. Nonmenclature: chromosome #, arm, and region, band, subband (7 q 31.2 1. Short arm: p 2. Long arm: q h. Human karyotype i. Humans have 23 pairs of chromosomes (46 individual chromosomes) ii. Autosomes 1. The first 22 pairs carry genes related to body traits (AUTOSOMES) iii. Sex chromosomes (23rd pair) 1. XX: Female 2. XY: Male i. Transcription i. Occurs in the nucleus ii. Process of converting DNA to mRNA iii. mRNA then leaves the nucleus and travels to ribosomes iv. review this process for the exam 1. DNA unwinds 2. RNA polymerase synthesizes new strand on template strand to create mRNA 3. Nucleotides are added following RNA polymerase 4. Spliceosomes excise introns 5. Remember uracil replaces thymine 6. mRNA leaves nucleus j. Translation i. Occurs in the ribosomes ii. Process of building proteins from amino acids and specific codons iii. review this process for the exam 1. start codon 2. amino acids bind to ribosome and transfer to P site, creating polypeptide chain via peptide bonds (facilitated by tRNA) 3. stop codon 4. protein made and excreted by cell k. Inheritance patterns i. Allele – gene inherited from one parent ii. Genotype – the individual’s genetic code iii. Phenotype – physical expression of genes iv. Heterozygous – an allele from mom and dad differs v. Homozygous - an allele from mom and dad are the same vi. Dominate allele – trait will present over another. Indicated by capital letter vii. Recessive allele – trait that only appear if both alleles are identical. Indicated by lowercase letter.  1. Ex, cystic fibrosis is caused by a recessive trait. For a child to have CF, they must inherit a CF gene from both the mom and dad to present in the child. viii. Carrier allele – heterozygous for recessive trait. l. Mendelian inheritance i. Used to determine the change an offspring with have a certain trait ii. Uses a Punnett square 1. If mom is Pp genotype and dad is also Pp for a trait 2. Then there is a 25% chance of homozygous PP 3. 25% chance of homozygous pp 4. And a 50% chance of Pp genotype iii. For autosomal traits, 1 copy of dom allele is needed for expression, 2 copies rec needed for expression m. Complex (multifactorial) inheritance i. Combination of 1 or more genes plus environmental triggers. ii. Majority of diseases have this pattern iii. Ex, HTN, DM, and cancer iv. SNPs or improper encoding of amino acids n. Pharmacogenomics i. Person’s genetics and medication interaction ii. Ex: Warfarin 1. Two genes cause variability in response to this drug that requires monitoring and dosage adjusting o. Oncogenes (defect) and tumor suppressor genes i. Oncoproteins (defect, inactivated) regulate cell cycle produced from oncogenes 1. Uncontrolled proliferation 2. Increase cancer risk ii. Tumor suppressor genes inhibit uncontrolled cell proliferation 1. P53 gene stops mitosis 2. P53 mutation may lead to uncontrolled cell growth p. Genetic assessment i. Pedigree – looks back at family history to determine likely hood of disease ii. Karyotyping – staining of chromosomes of mitotic cells with a dye iii. Polymerase chain reaction (PCR) – looks at DNA sequencing and amplifies sample for future study in a laboratory. (Standard for COVID 19 diagnosis) q. Prenatal screening i. Early detection of birth defects and genetic diseases in a fetus or embryo ii. If a mother has the following, prenatal screening is recommended 1. >35 years old 2. abnormal US findings 3. couples that are close blood relatives 4. unexplained or multiple miscarriages 5. family history of birth defects or having IDs  6. Women who have a condition associated with increased risk of fetal issues 2. Chromosomal abnormalities a. Marfan’s syndrome i. Autosomal dominant, sporadic ii. Connective tissue disorder iii. Cardiovascular disease and aortic dissection are complications 1. If untreated death is between 30-40 years old iv. S/S: tall stature, kyphoscoliosis, ligament hypermobility, heart murmurs, and cardiac dysrhythmias b. Ehlers-Danlos syndrome i. Causes by abnormalities in collagen synthesis ii. Diminished strength and integrity of skin, joints, and other connective tissues iii. S/S: hypermobility of joints, easy bruising, mitral valve prolapse, and arterial aneurysms c. Cystic fibrosis i. Autosomal recessive disease ii. Overproduction of mucus causing abnormal lung functioning iii. Disrupted pancreatic secretions causing malabsorption of nutrients iv. Treatment includes pancreatic enzymes, bronchodilators, mucolytics, vibratory devices, chest therapy, and nutritional supplements. v. End stage lung disease is leading causing of death d. Turner syndrome i. Effects the 45th chromosome with an XO karyotype (effects females) ii. S/S: short stature and infertility, lack of breast development and amenorrhea at puberty. iii. Treatment - estrogen therapy and hormone replacement e. Fragile X syndrome i. Charactered by repeating codons of CGG ii. S/S: cognitive impairment, mild-to-moderate autistic behaviors f. Down syndrome i. “Trisomy 21” ii. Most common chromosomal disorder, wide variation of severity iii. S/S: flat facial profile, epicanthic folds around the eyes iv. IQ ranges from 25 to 50 g. Huntington’s disease i. Autosomal Dominant, adult onset (35-44 years old) ii. No specific diagnostic test or cure for the disease iii. S/S: chorea (aggressive movement, flailing), cognitive disorder, and behavioral disorder iv. Treated with antidepressants, antipsychotics, and anticonvulsants. h. JUST KNOW THESE DISEASES AS CHROMOSOMAL ABN!!!!! Chapter 3 Study Guide (9 Questions) 1. How many chromosomes are found in the normal human body? 46 chromosomes a. How are they organized? 23 pairs 2. Human karyotype a. What is a autosome? How many are there in the normal human body? i. 44 chromosomes (22 pairs) ii. Autosomes are any other chromosomes that aren’t sex chromosomes (somatic) b. The sex characters are found on which pair? i. 23rd pair c. What is the sex chromosome for males and females? i. Males = XY ii. Females = XX 3. What is DNA? (deoxyribonucleic acid, genetic info) a. How is it organized? i. Double helix structure ii. Nucleotide is made of pentose sugar and phosphate backbone, nitrogen in the middle base pairing AT GC b. What are the nitrogen bases for DNA? What nitrogen base changes when mRNA is created? i. ATGC ii. T changes to uracil in RNA c. What is the function of a codon? i. Codons are a set of 3 nucleotides that signal a specific amino acid during protein synthesis ii. Start and end codons d. What is a genetic mutation and what are the two ways they can appear in the body? i. Genetic mutations are any changes that alter the genetic code, may cause a disease process, can occur spontaneously  1. Damage or change to DNA/RNA (genes) via errors/ 2. Can be inherited e. Describe the process of Transcription and translation of DNA to protein synthesis i. Transcription – DNA → mRNA, occurs in nucleus 1. DNA unwinds 2. RNA polymerase synthesizes new strand on template strand to create mRNA 3. Nucleotides are added following RNA polymerase 4. Spliceosomes excise introns 5. mRNA leaves nucleus a. REMEMBER U REPLACES T ii. Translation – mRNA → tRNA → amino acids → protein, occurs in ribosomes in cytoplasm 1. start codon 2. amino acids bind to ribosome (APE), creating polypeptide chain via peptide bonds 3. stop codon 4. protein made and excreted by cell iii. ERRORS IN BOTH CAN CREATE DYSFUNCTIONAL PROTEINS 4. Gene inheritance a. What is an allele? How can it be inherited? i. A gene inherited one from each parent b. What is meant by dominate/recessive? i. Dominant traits present over another (AA, Aa) ii. Recessive traits only appear if both alleles are identical (aa) c. Understand the use of Punnett Squares and how to read it. 5. What is Complex (Multifactorial) Inheritance? Give some examples a. Multifactorial inheritance is where a trait or condition is caused by a combination of multiple genes interacting with environmental factors, including SNPs or improper encoding of amino acids b. Majority of diseases have this pattern c. HTN DM CA 6. What are the ways to assess genetic abnormalities? (Genetic assessments) a. Pedigrees – family tree to determine likelihood of disease b. Karyotyping – staining chromosomes of mitotic cells with dye c. PCR – DNA sequencing and amplifies sample for better details (standard for COVID19) 7. What is prenatal screening and what populations demonstrate risk factors? a. Prenatal screening is early detection of birth defects and genetic diseases in fetus or embryo (series of blood tests, US) b. Prenatal screenings are recommended for women at risk like i. >35 years old ii. Abnormal US findings iii. Couples that are close relatives iv. Unexplained or multiple miscarriages v. FHx of birth defects or IDs  vi. Those who have conditions associated with increased risk of fetal issues 8. Chromosomal Abnormalities a. Be familiar with the diseases presented in class i. Marfan’s syndrome 1. Autosomal dominant, sporadic 2. Connective tissue disorder 3. Cardiovascular disease and aortic dissection are complications (early death 30-40 4. S/S: tall, kyphoscoliosis, ligament hypermobility, heart murmurs, cardiac dysrhythmia ii. Ehlers-Danlos syndrome 1. Caused by abnormalities in collagen synthesis 2. Diminished strength, joints, skin, other connective tissue 3. S/S: hypermobility of joints, easy bruising, mitral valve prolapse, arterial aneurysms iii. Cystic fibrosis 1. Autosomal recessive 2. Overproduction of mucus causing abnormal lung functioning (end stage lung disease is leading cause of death here) 3. Disrupted pancreatic secretions, bad absorption of nutrients 4. Tx includes pancreatic enzymes, bronchodilators, mucolytics, vibratory devices, chest therapy, nutritional supplements iv. Turner syndrome 1. 45th chromosome with XO karyotype (only effects females) 2. S/S short, infertility, lack of genital development, amenorrhea at puberty 3. Tx includes estrogen therapy and HRT v. Fragile X syndrome 1. Repeating codons of CGG 2. S/S: cognitive impairment, mild-mod autistic behaviors vi. Down syndrome (trisomy 21) 1. Most common chromosomal disorder (chromosome 21) 2. Wide variation of severity, low IQ 3. S/S: flat facial profile, epicanthic folds around eyes vii. Huntington’s disease 1. Autosomal dominant late onset (35-44) 2. No diagnostic test or cure 3. S/S: chorea (aggressive movement, flailing), cognitive disorder, behavioral issues 4. Treated with antidepressants, antipsychotics, anticonvulsants Chapter 4 Outline 1. Terminology a. Eustress (+) vs Distress (-) i. Stress induces a physical response (mind-body) b. Acute stress i. Response to acute things, intensity varies, HR increases, lungs expand, concentration increases, reaction time faster, increase in strength and speed (fight/flight), body releases hormones to bring body back to homeostasis c. chronic stress i. prolonged activation of stress response, linked to diminished immunity, CA, heart disease, autoimmune disease, depression d. Adaptive ability – the way in which the individual manages the stress and reduces the stressor’s effect on our lives, allows maintaining of homeostasis, depends on coping mechanisms of each individual 2. Selye’s stress response theory (short term = protective, prolonged = diminishing effectiveness) a. Alarm stage i. Activation of CNS, sympathetic nervous system, and adrenal glands ii. ↑ alertness, vasoconstriction, HR, RR, pupil dilation, and sweating. ↓ GI & urinary systems iii. Cortisol is released by adrenal cortex 1. ↑ blood glucose and muscle strength for short term 2. Enhances immune response short term, but suppresses immunity long- term iv. Epinephrine and norepinephrine released by adrenal medulla, increasing BP via vasoconstriction v. Posterior pituitary releases anti diuretic hormone (ADH), increasing BP via increasing sodium in blood b. Resistance stage i. Resolution of stress response through continued hormonal and catecholamine (epi/norepi) release ii. If stress goes away, parasympathetic system induces relaxation. iii. If stress continues, the bodies response lessens and progresses to exhaustion stage. c. Exhaustion stage  i. Stress overwhelms the body, feeling of “rundown”, overwhelmed and unable to cope ii. Response to stressor cannot be maintained iii. Chronic stress suppresses the immune system. Increased risk for infection. 3. Review PP slide 11 and understand the hormones and nervous system interactions a. PP 12 is a good review of SNS vs PNS. 4. McEwen’s stress response theory a. Allostasis i. Dynamic state of balance in response to stressor b. Theory i. Frequent stressors change physiological balance and create a new set point ii. Ex. Chronic stress can lead to hypertension or a “new setpoint” for the patient’s blood pressure due to maladaptation to stress. c. Allostatic load i. Defined as wear and tear on body systems caused by stress reactions (norepi vasoconstricts over time and cortical decreases immunity over time) ii. Due both to the stressor AND the individual’s ability to respond iii. Accumulates due to repeated stressful exp, inability to adapt to the stress, prolonged rxt to stressor, inadequate response to stress d. Allostatic overload (can’t keep up) i. When stress exceeds the body’s ability to adapt ii. Pathophysiological disorders may manifest (obese person who overeats, high risk for DM due to body stress) 5. Treatment of stress a. Lifestyle changes i. Reduce caffeine intake ii. Improve sleep/restorative sleep iii. Establish work/leisure balance iv. Exercise, meditation, yoga, stress management programs v. Establish a social support and use humor frequently vi. Psychotherapy 6. Serotonin and tryptophan a. Serotonin i. Neurotransmitter in brain and GI tract ii. Serotonin in the brain promotes feelings of calm, personal security, relaxation, confidence, and concentration. iii. Levels depleted with increased stress 1. Leads to GI upset and indigestion 2. Leads to lack of feeling calm and relaxed b. Tryptophan i. Amino acid, precursor to serotonin ii. Carbohydrate ingestion helps facilitate tryptophan uptake by brain 1. Ingestion of carbohydrates is the greatest dietary stimulus for the release of insulin; carbohydrates, which stimulate insulin, enhance the  uptake of competing amino acids into muscle and allow the brain to absorb tryptophan. 2. Once inside the brain, tryptophan is converted into serotonin. 7. Pharmacological treatments to reduce stress a. Sedatives i. Depress CNS leading to “relaxation”. ii. etoh b. Antidepressants i. Modulate serotonin and dopamine ii. Requires at least 3 weeks to reach therapeutic levels in the blood. 8. Exercise a. One of the best and most effective treatments for stress and many pathological conditions b. 40 min 3-4 days/week c. Raises HDL cholesterol, increases mitochondria in muscles strength size, stimulates angiogenesis (new blood vessel growth), increases glucose entry into cells (very important for type 2 diabetics), promotes a positive mood. d. Weight control e. Reduces risk of cardiovascular disease f. Improves GI motility over the long term. Helps counteract constipation, colon cancer, diverticulosis, and inflammatory bowel disease. g. Increases oxygenation, depth rate of breathing h. Stim NT release, elevating mood, increasing o2 to brain and endorphin release i. Increased metabolic rate j. Increased bone diameter and strength k. Improved glucose tolerance i. Allows more glucose to enter cells (this is a key treatment in type 2 DM, more to come in future lectures) ii. ALERT! Persons with diabetes that perform intense exercise are at risk for hypoglycemia (low blood sugar). Keep on hand simple sugars (raw sugar) when dealing with diabatic patients. 9. Immobility a. Long term bedrest, sedentary lifestyle, or inactivity b. If long term bed rest, increased risk of atelectasis (partial or full lung collapse), aspiration. c. Inactivity and complications to the circulatory system i. Venous stasis 1. Stagnation (cooling) of venous blood in the lower extremities 2. Increased risk for edema and blood clots (DVT [deep vein thrombosis]) ii. Pulmonary embolism (embolism means clot moved) 1. Venous clot from legs breaks off and can travel to the lungs 2. Serious medical condition that is potentially fatal because it blocks the perfusion of lung tissue. 3. Prevention of DVT  a. Thromboembolic dressing (TED) stockings, pneumatic compression devices, and anticoagulant medications are often used to decrease the risk of DVT in patients on bedrest. iii. Orthostatic hypotension 1. occurs when a patient attempts to resume the upright position after a prolonged period of bedrest. Increased risk of falling 2. Patients report feeling faint, dizzy, or weak; they may also be unable to stand and may experience syncope (loss of consciousness). iv. Natriuresis 1. Antidiuretic hormone (ADH) and aldosterone are inhibited, increasing water loss from body d. Inactivity on muscular system i. Decreased muscle strength ii. Muscle contracture (shortening of muscle) 1. Joints assume flexion contractures and obtain fetal position 2. To prevent contractures - clinicians need to ensure proper body alignment of patient in bed, frequently turn immobile patients, and ensure daily passive range of motion to effected joints. iii. Decreased trabecular bone 1. Decreased osteoblast (bone building cells) 2. Increased risk of pathological fractures e. Inactivity on other systems i. Renal system 1. If supine, increase risk for urinary stasis and UTI’s ii. GI system 1. Decreased peristalsis and intestinal absorption 2. Increased risk of constipation and GERD iii. Metabolic and endocrine 1. Increased muscle protein breakdown to create energy 2. Glucose intolerance increases (glucose can’t enter cells) iv. Cardiovascular 1. Heart work harder, venous return to heart is reduced f. Inactivity on integumentary system i. Prolonged bed rest without rotating patient will lead to pressure sore development or “decubitus ulcers”. 1. Stage I: Persistent skin redness 2. Stage II: Loss of epidermal or dermal layers 3. Stage III: Deterioration of layers deep to dermis 4. Stage IV: Loss of full thickness of tissue, down to muscle and bone ii. Within every 2 hours, patients on bed rest must be rotated. 1. Offload bony prominence & use TED stocking to facilitate venous return. 2. Common places for ulcers – heels, calf, shoulders, sacrum (bottom), elbow, & occiput.  3. If wound occurs it requires wound care, more meds since it may become septic g. Psychosocial changes i. Decrease mood, orientation, cognitive abilities ii. More anxiety, depressed, fear, mood swings iii. Decreased concentration, problem-solving Chapter 4 Study Guide (6 Questions) 1. Explain the difference between acute and chronic stress? What happens in each? a. Acute – response to acute things, variable intensity, HR increases, lungs expand, concentration increases, reaction time is fast, increase in strength and speed (flight/fight response), body releases hormone AFTER stress has subsided to bring body back to homeostasis b. Chronic – prolonged activation of stress response, causes diminished immunity, higher chance of CA, cardiovascular disease, autoimmune disease, mental health issues 2. What are the three stages of stress response (seyles)? What happens in each stage, what happens under normal conditions vs chronic conditions? a. Alarm i. Activation of CNS, sympathetic nervous system, adrenal glands ii. More alertness, vasoconstriction (through release of norepinephrine and epinephrine by adrena medulla), HR, RR, pupil dilation, sweating, posterior pituitary releases anti diuretic hormone (ADH) increasing BP via Na in blood iii. Lowers GI and urinary system activity iv. Normally, cortisol is released by adrenal cortex, BG increases, for muscle strength, enhances immune response in short term but suppresses it long-term b. Resistance i. Body tries to adapt to the stress response ii. If stress goes away, parasympathetic system induces relaxation iii. If stress continues, body response lessens and progresses to exhaustion stage c. Exhaustion i. Stress overwhelms the body “rundown” ii. Response to stressor can’t be maintained iii. Chronic stress suppresses the immune system, increasing risk of infection 3. During acute stress response, what is released by the hypothalamus? What does it do? a. ADH is synthesized by hypothalamus b. Corticotropin-releasing hormone is released from hypothalamus which triggers release of adrenocorticotropic hormone (ACTH) from pituitary gland, eventually leading to the secretion of cortisol from adrenal glands 4. What is the function/role of cortisol? a. Cortisol which is released by the adrenal cortex increases BG and muscle strength for short-term response b. It also enhances the immune response but can suppress it long-term c. Temporarily disables non-essential functions like GI 5. Where does epinephrine and ADH come from? What is their function during stress?  a. ADH (vasopressin) is synthesized by hypothalamus which is released by the posterior pituitary gland which signals kidney nephrons to retain, water, decreasing urinary urges and increasing Na in blood, increasing vasoconstriction/BP b. Epinephrine is released by the adrenal medulla increasing BP via vasoconstriction, promoting blood flow and alertness 6. Be able to differentiate the information on pg 11-12 regarding SNS vs PNS. 7. What is allostatic load and overload? a. Allostatic load i. Wear and tear caused by stress reactions (norepi vasoconstricts causing HTN over time, and cortical decreases immunity over time), creates new setpoints ii. Due to both the person and stressor’s ability to respond iii. Accumulates due to repeated stressful exp, inability to adapt to the stress, prolonged rxt to stressor, inadequate response to stress b. Allostatic overload i. Stress exceeds the body’s ability to adapt!!! ii. Disorders manifest (obesity keeps overeating, causing DM due to body stress) 8. Why is an individual who is obese, sedentary, and overconsumes their diet a high risk of developing insulin resistance and type 2 diabetes? a. According to McEwen’s stress response theory, the constant elevation in BG after eating causes the BG to be high at baseline, increasing insulin resistance/decreasing sensitivity. Pancreas tries to compensate by producing more insulin but cells can’t uptake well. Fat accumulation lowers ability to respond to insulin and promotes inflammatory responses. 9. What are some common stress related disorders? a. Mental health disorders b. Cardiovascular: HTN, MI, CVA c. GI: IBS, GERD, ulcers d. HA, migraines e. DM f. Weak immune system 10. What are some suggestions to reduce stress? a. Lifestyle changes i. Reduce caffeine intake ii. Improve sleep/restorative sleep iii. Establish work/leisure balance iv. Exercise, meditation, yoga, stress management programs v. Establish a social support and use humor frequently vi. Psychotherapy b. Pharmacological tx i. Sedatives ii. Antidepressants c. Exercise (30-40min) 3-4 days/week i. Improve glucose tolerance (glucose enters cells more) ii. Raises HDL, angiogenesis 11. What is Serotonin and tryptophan? What do they do in the body? a. Serotonin – NT in brain and GI tract that promotes feelings of calm, personal security, relaxation, confidence, and concentration in brain, adequate level is good for GI tract, if levels are low then opposite b. Tryptophan – amino acid precursor of serotonin, eating carbs facilitate its uptake by brain, thus its conversion to serotonin. Also is the best dietary stimulus for release of insulin 12. Why are sedatives used in the treatment of stress? Any side effects? a. Sedatives are used because they depress the CNS, leading to relaxation, promotes sleep, counteracts symptoms of stress like HTN or high HR b. side effects include dependence, addiction, drowsiness, rebound symptoms, respiratory depression, depression/mood changes 13. Why are antidepressants used in the treatment of stress? How long does it take to reach therapeutic blood levels when starting a new medication of antidepressants? a. Antidepressants are effective because they modify serotonin and dopamine levels in brain b. Requires at least 3 WEEKS to reach therapeutic levels 14. Benefits of exercise, given an example of each below a. Weight control and glucose tolerance. i. Losing weight, and improve glucose tolerance, cells uptake more glucose b. Cardiovascular system, GI system, pulmonary system, musculoskeletal system. i. Reduces risk of cardiovascular disease, improves GI motility and reduces disease, increases O2 and depth of breathing, increases muscle mass, bone diameter and strength 15. What is a deep vein thrombosis (DVT)? What causes it and what can it lead to if untreated? a. Blood clot in legs b. immobility can cause venous stasis (stagnation/cooling of BLE, increased risk of edema and DVT c. if untreated the clot and break and travel to the lungs, causing a PE which can be fatal by blocking perfusion of lung tissue 16. Describe orthostatic hypotension a. The drop in BP from a resting position to standing causing dizziness, weakness, near syncope/syncope b. High risk of falls 17. Review stages of pressure sores/ulcers 1. Stage I: Persistent skin redness 2. Stage II: Loss of epidermal or dermal layers 3. Stage III: Deterioration of layers deep to dermis 4. Stage IV: Loss of full thickness of tissue, down to muscle and bone 18. Review guidelines for repositioning of patients on bed rest a. every 2 hours pts must be rotated and evaluated b. offload bony prominence (sacrum, elbow, shoulders, heels) c. use TED stockings 19. Where are ulcers most likely to occur (be found at)?  a. Bony prominences: heels, calf, shoulders, sacrum (bottom), elbow, & occipital. Chapter 5 outline 1. Terminology a. Adipocytes – fat endocrine cells, secretes adipokines b. Adipokines – hormone produced by adipocytes that affects the body’s metabolism, cell insulin sensitivity, blood lipid levels, and hepatic glucose production, involved in hunger and satiety, as adipose tissue increase, do does adipokines effects i. Adiponectin “good adipokines” 1. Increases insulin sensitivity (good), anti-inflammatory, ↓ arteriosclerosis 2. Less fat = more adiponectin ii. Leptin “good adipokines” 1. Affects body weight, appetite, and energy expenditure, causes “full” signal 2. Released from adipocytes in response to fat 3. Obesity causes resistance to leptin, thus decreasing sense of satiety (fullness) despite having high levels in blood iii. Resistin “bad adipokines” 1. High level found in obese individuals 2. Causes insulin resistance (bad); decreases insulin sensitivity iv. Angiotensinogen (AGT) (mediators as adipokines) 1. Precursor to angiotensin II (a major vasoconstrictor, ↑ BP) 2. ↑ AGT leads to hypertension and arteriosclerosis, plasminogen activator inhibitor (PAI) increased risk of clots c. Hunger i. Hypothalamus regulates hunger and feeling of safety 1. Low blood sugar and an empty stomach stimulate hunger reflex ii. Ghrelin – secreted by the stomach 1. Stimulates hunger  iii. Appetite – located in diff area of hypothalamus 1. Result of visual, olfactory (smell), and emotional triggers. 2. Risk factors for obesity a. Excessive calorie intake b. Sedentary lifestyle, race, poverty (cheap food), female gender, age, smoking cessation, genetic susceptibility and secondary effects of other diseases or conditions. c. Overweight = body weight 20% > ideal weight d. Obesity = body weight 30% > ideal weight e. Morbid obesity = body weight 40% > ideal weight f. Apple-shaped obesity = central obesity g. Pear-shaped obesity = fat around hips and buttocks h. Waist measurements for obesity risk fx for cardiovascular disease i. Greater than 35in in women ii. Greater than 40in in men i. BMI: is a comparison of height to weight i. Underweight: < 18.5 ii. Normal weight: 18.5 – 24.9 iii. Overweight: 25 – 29.9 iv. Obesity: ≥ 30 v. Morbid obesity: ≥ 40 vi. BMI not good measurement for athletes 3. Treatment for obesity a. Diet i. Meet nutritional needs and maintain a healthy diet without overconsumption b. Activity i. Increased caloric expenditure ii. Helps with glucose, fat utilization iii. Builds muscle, increases metabolic rate c. Pharmacology intervention i. Short-term benefits ii. Used to support dietary and activity adjustments iii. Medications: modest effect, side effects can be a concern d. Surgical intervention i. Liposuction 1. Most common cosmetic surg in US 2. subQ fat removed from body 3. high mortality risk due to fluid shifts ii. Bariatric surgery (indicative for BMI of 35 or 40 and higher with medical complications) 1. Laparoscopic Roux-en-Y Gastric Bypass (RYGB) a. Lower stomach and duodenum bypassed b. Limits food consumed by having a smaller stomach, decreasing calorie consumption c. Decreased DM occurrence but complications may occur  2. Gastric banding a. Placing a band around stomach decreasing appetite, smaller portion of stomach on top with small opening to lower stomach b. Vertical and lap-band (horizontal) c. Port access to adjust size 3. Laparoscopic gastric sleeve a. Irreversible b. Large portion of stomach is cut i. Decreased ghrelin c. Post-op bleeding risk d. Need complete dietary changes iii. Complications of bariatric surgery 1. Vitamin and mineral deficiencies may develop (Vitamin B12, calcium, and iron) more to come in future lectures. 2. Herniation 3. Dumping syndrome a. Undigested contents of stomach are moved to the small intestine too quickly causing diarrhea, abd cramps, hypotension (adjust meal and food intake to avoid) 4. Eating disorders a. Anorexia nervosa i. BMI less than 17.5 ii. Intentional starvation practices (distorted body image) 1. Like bulimia, they also binge and purge, exercise a lot, and misuse laxatives iii. Certain personality traits, psychiatric characteristics may accompany disease development iv. Many systems of body affected (Cardiovascular, Renal, GI) b. Bulimia nervosa i. BMI is often in normal range, less psychiatric symptoms than anorexia, may appear “normal” ii. Large amounts of food in short period of time (binge) followed by ridding of food through vomiting, use of laxatives, or excessive exercise iii. Binges occur at least 2x weekly for 3 months iv. Thought to be significantly underreported v. Electrolyte imbalances, tooth decay, and severe dehydration may develop 5. Etiology a. Occurs when energy intake exceeds energy expenditure b. Metabolic disorder i. Insulin sensitivity, glucose utilization, fat accumulation, hepatic glucose production c. Genetics and env fx play a role d. Secondary to other conditions i. Hypothyroid, cushing’s syndrome, PCOS Chapter 5 Study Guide (4 Questions) 1. Identify the risk factors involved in the development of obesity. a. Excessive calories b. Sedentary lifestyle c. Race d. Poverty (cheap food) e. Female gender f. Age g. Smoking cessation h. Genetics i. Secondary effects of other diseases 2. Why does socioeconomic status play a role in obesity? a. Food access, stress levels, healthcare availability 3. Describe the pathophysiological mechanisms involved in obesity. a. Occurs when energy intake exceeds energy expenditure b. Metabolic disorder i. Insulin sensitivity, glucose utilization, fat accumulation, hepatic glucose production c. Genetics and env fx play a role d. Secondary to other conditions i. Hypothyroid, cushing’s syndrome, PCOS e. adipocytes secrete adipokines i. good 1. adiponectin – increases insulin sensitivity, less arteriosclerosis, anti- inflammatory 2. leptin – sense of fullness  ii. bad 1. resistin – insulin resistance 2. angiotensinogen (mediators of adipokines) – precursor to AGT II which is a major vasoconstrictor, may lead to HTN, arteriosclerosis, plasminogen activator inhibitor (PIA) increases risk of clots f. hunger i. hypothalamus regulates hunger and feeling of fullness ii. ghrelin – stomach, hunger iii. appetite, sensory triggers NOT FROM HYPOTHALAMUS 4. Recognize the methods of diagnosis in obesity. a. Body fat measurement b. Density-based scanning c. Bioelectrical impedance – measuring fat w/ weak electrical current d. Anthropometric – measuring proportions of body e. BMI 5. What is BMI and BMR? How are they used to treat a patient? a. BMI – comparison of height to weight, used as a tool to obtain weight goals i. Underweight – < 18.5 ii. Normal – 18.5-24.9 iii. Overweight – 25-29.9 iv. Obesity - > or equal to 30 v. Morbid obesity - > or equal to 40 b. Basal metabolic rate (BMR) – amount of energy body uses while at rest, minimum number of calories to maintain body functions, good to know to track losing weight 6. Discuss treatment measures for obesity. a. Diet b. Activity i. Increased caloric expenditure ii. Helps with glucose, fat utilization iii. Builds muscle, increases metabolic rate c. Pharmacology intervention i. Short-term benefits ii. Used to support dietary and activity adjustments iii. Medications: modest effect, side effects can be a concern d. Surgical intervention 7. What are the surgical interventions we discussed in class? What is the purpose of each? i. Liposuction 1. Most common cosmetic surg in US 2. subQ fat removed from body 3. high mortality risk due to fluid shifts ii. Bariatric surgery (indicative for BMI of 35 or 40 and higher with medical complications) 1. Laparoscopic Roux-en-Y Gastric Bypass (RYGB) a. Lower stomach and duodenum bypassed b. Limits food consumed by having a smaller stomach, decreasing calorie consumption  c. Decreased DM occurrence but complications may occur 2. Gastric banding a. Placing a band around stomach decreasing appetite, smaller portion of stomach on top with small opening to lower stomach b. Vertical and lap-band (horizontal) c. Port access to adjust size 3. Laparoscopic gastric sleeve a. Irreversible b. Large portion of stomach is cut i. Decreased ghrelin c. Post-op bleeding risk d. Need complete dietary changes iii. Complications of bariatric surgery 1. Vitamin and mineral deficiencies may develop (Vitamin B12, calcium, and iron) more to come in future lectures. 2. Herniation 3. Dumping syndrome a. Undigested contents of stomach are moved to the small intestine too quickly causing diarrhea, abd cramps, hypotension (adjust meal and food intake to avoid) 8. Recognize the signs and symptoms of eating disorders. a. Anorexia nervosa i. BMI less than 17.5 ii. Intentional starvation practices (distorted body image) 1. Like bulimia, they also binge and purge, exercise a lot, and misuse laxatives iii. Certain personality traits, psychiatric characteristics may accompany disease development iv. Many systems of body affected (Cardiovascular, Renal, GI) b. Bulimia nervosa i. BMI is often in normal range, less psychiatric symptoms than anorexia, may appear “normal” ii. Large amounts of food in short period of time (binge) followed by ridding of food through vomiting, use of laxatives, or excessive exercise iii. Binges occur at least 2x weekly for 3 months iv. Thought to be significantly underreported v. Electrolyte imbalances, tooth decay, and severe dehydration may develop Chapter 6 Outline 1. Pain overview a. A simple reflex or ascending tract from spinal cord (SC) or to the brain. b. Protective mechanism c. Most common symptom for which people seek medical treatment d. It is also the second leading reason for work absenteeism e. Pain i. Nerve impulse signal between periphery, spinal cord, and brain f. Simple reflex arc i. Response at spinal cord level, does not involve brain g. Nociceptors i. “Pain nerves” include A-Delta and C fibers h. Spinal cord i. Pain signals up to brain through ascending tract (spinothalamic tract) i. Brain i. Sends outgoing signals to modify pain “Endorphins” j. Neurotransmitters  i. Enhance or inhibit pain signals (Acetylcholine, GABA, & serotonin) 2. Simple reflex arc - Protective responses that do not involve brain input a. Afferent neuron i. Incoming signal to dorsal horn of SC ii. Sensory nerves iii. Afferent = Arriving to SC b. Interneuron (intermediate) i. Connector c. Efferent neuron i. Outgoing signal from ventral horn of SC ii. Motor nerves (so we know to move from a hot stove, sharp object, etc, protective mechanism) iii. Efferent = Exiting the SC d. Can assess deep tendon reflexes using a reflex hammer (patellar reflex) 3. Spinal cord and brain connection for pain processing a. The brain interprets pain signals b. A-Delta fibers i. Larger ii. Myelinated iii. Very fast reaction, short lived c. C fibers i. Smaller ii. Unmyelinated iii. Very slow – cause longer lasting persistent dull pain. (Chronic pain) d. Spinothalamic tract i. Primary ascending tract for pain signals from spinal cord to brain ii. Sensory, pain, temp, pressure e. Corticospinal tract i. Outgoing signals from the brain travel on this descending tract ii. There is a decussation (crossing over) in the medulla 1. Therefore, patients with left brain injury will have right sided motor weakness. 2. Controls motor muscles in response iii. Neurotransmitters 1. Excitatory a. Acetylcholine and norepinephrine 2. Inhibitory a. dopamine, serotonin, and GABA iv. endogenous opioids 1. the brain receives pain signals, interprets them, and produces endogenous opioids which decrease the sensation of pain a. ex, endorphins  2. important for critical situations. If we hurt our leg but a bear is chasing us, our body can temporarily “numb” the pain until we get away from the bear. 3. This is also experienced during a “runners high” after a run. 4. Inhibit c and a delta fiber signals v. Sensitization 1. Exaggerates excitement of pain nerve fibers, afferent neurons repeated over and over (ex: dm neuropathy) 2. Decreases pain inhibitory signals 3. Pain mechanism may be altered in some individuals or in some disease states (ex, CRPS, complex regional pain syndrome) vi. Dermatomes (skin area that’s innervated by sensory fibers single nerve root, sensory) and myotomes (group of muscles that’s innervated by motor fibers of single nerve root 1. Spinal nerves innervate the body in specific patterns 2. Alterations in sensation or motor control can be “mapped” to specific spinal nerves based on location 3. A dermatome is a skin area innervated by the sensory fibers of a single nerve root; 4. A myotome is a group of muscles primarily innervated by the motor fibers of a single nerve root. 5. Can be used to determine diagnosis, for example leg pain may be due to a nerve issue in the lumbar 6. C = neck bilateral hands, T = inside of arms, chest, abd, L = pubic region, BLE, S = lower lateral legs and genitalia 4. Pain theory a. Gate control theory i. Pain is not necessarily proportional to the amount of tissue injury, spinal cord block or allow pain signals to travel to brain ii. Sensation travels both to and from the brain (affects). b. When gate is open i. When pain nerve fibers from the periphery are stimulated and the interneuron gate is open, the neural stimulus is transmitted up the spinal cord to the brain for recognition. c. When gate is closed i. When large nerve fibers from the periphery are stimulated, small-diameter pain fibers cannot get through the interneuron gate. They don’t reach the brain. d. Chronic pain syndromes i. The gate is always open, the brain gets overloaded with pain signals, and the brain is unable to moderate the pain. Cognitive function is altered also. e. Steps of gate control theory after injury i. Transduction 1. Painful stimuli into neuronal signals ii. Transmission  1. Traveling of the nerve impulse or “neuronal signal” in dorsal horn, afferent to efferent iii. Modulation 1. The effect of the interneuron on the afferent neuron; the effect can be amplification or dampening of pain iv. Perception 1. Conscious awareness of the pain (developmental level past experiences, mental health, mood can all affect perception) f. Phantom limb pain (challenges gate theory) i. 70% of amputees report burning, cramping, and shooting pains long after the amputation has occurred. ii. Neruomatrix theory (explains this) 1. Pain is a multidimensional experience and pain generated from nerve impulses of the body-self neuromatrix in brain 2. Neuromatrix is genetically determined and develops from sensory input throughout a person’s life 3. The brain can generate painful stimuli apart from nociceptive stimulation (when tissue is injured = noinceptive pain) a. Noinceptive pain is not prerequisite 5. Types of pain a. Acute i. Results from new onset of tissue injury or inflammation. ii. Acute pain is sudden, lasts hours to days, and resolves with healing of the disorder. b. Chronic i. Pain persists beyond the expected time for a given disease process or injury and is defined as having a duration greater than 6 months. ii. Can be due to persistent inflammation; does not serve a biological or protective function iii. Ex, Cancer, osteoarthritis, and rheumatological diseases such as rheumatoid arthritis. c. Neuropathic pain (neither acute or chronic, occurs at random times) i. Is caused by injury or malfunction of the spinal cord and/or peripheral nerves. ii. Neuropathic pain is typically a burning, tingling, shooting, stinging, or pins-and- needles sensation, often referred to as paresthesia. iii. It can occur within days, weeks, or months of an injury and tends to occur in waves of frequency and intensity. iv. Examples are spinal nerve radiculopathy, diabetic polyneuropathy, post-surgical pain syndromes, and complex regional pain syndrome (CRPS). 6. Sources of pain a. Cutaneous – cuts and bruises of the skin, minor burns b. Deep somatic - originates from ligaments, tendons, bones, blood vessels, and nerves themselves. i. produces a dull, poorly localized pain of longer duration than cutaneous.  ii. Sprains, strains, broken bones, and myofascial pain (trigger points). c. Visceral pain i. is defined as pain emanating from deep organs, usually resulting from disease processes. ii. pain can be vague and not well localized iii. is usually described as pressure-like, deep squeezing, dull, colicky, or diffuse. d. Referred pain i. occurs when the pain response occurs at a distance from the actual pathology. ii. Hallmark of visceral pain iii. Ex. Pain down left arm during a heart attack (MI). iv. Review the referred pain chart on slide 23 of your PP. 7. Pain assessment a. 5th vital sign, pain is subjective, variable, verbal or nonverbal expressions, can aid in diagnosis b. OLD CART method for subjective assessment i. Onset, location, duration, characteristics, aggravating factors, relieving factors, treatment. 8. Diagnosis a. Subjective pain questionnaire results b. Blood tests, nerve conduction studies, electromyography, nerve injections and imaging tools. 9. Treatment a. Medication i. Opioids, non-opioids, or adjuvant medications b. World health organization step analgesic ladder i. Provides an approach to pharmacological management of pain. ii. Start with step 1 drugs first, then progress if pain is still present. (except cancer, opposite) 1. Mild-mod nonopioids 2. Mod-severe mild opioids 3. Severe strong opioids iii. Implemented to reduce opioid addiction. c. Non pharmaceutical treatment i. Therapeutic education (patient education on pain, understanding) ii. Exercise, massage, TENS (electrical stimulation) iii. Psychology and behavioral therapy iv. Occupational therapy v. Physiotherapy vi. Nursing interventions vii. Acupuncture viii. Guided imagery ix. Intradiscal electrochemical therapy x. Botulinum neurotoxin d. Opioids  i. Considered a controlled substance ii. Morphine is prototypical opioid 1. Produces analgesia, euphoria, and sedation iii. Can cause respiratory depression iv. Additional side effects of opioids: 1. constipation, nausea, dizziness, physical dependence (addiction) v. complications: addiction, tolerance, withdrawal e. nonopioid analgesics i. acetaminophen (Tylenol) ii. NSAIDs 1. Aspirin, ibuprofen, naproxen, celecoxib 2. Block prostaglandin (PG) synthesis by inhibiting cyclooxygenase (COX) enzymes 3. Affects COX 1 + COX 2 which cause adverse effects 4. Prolonged use = bleeding, stomach ulcers, abd issues f. Adjuvant medications i. Antidepressants, local anesthetics, corticosteroids, anticonvulsants, cannabinoids, and topical pain relievers (lidocaine, capsaicin). 10. Pain disorders a. Cancer pain i. May be intermittent or chronic ii. Tumors can cause pain by placing pressure on adjacent structures iii. Inflammatory mediators and enzymatic destruction of tissues iv. Chemotherapy and radiation therapy v. Bone pain often occurs with metastatic cancers b. Spinal nerve radiculopathy i. Spinal nerve impingement ii. Lumbosacral area 1. Often affecting sciatic nerve leading to “sciatica” 2. Pain radiates down the leg with numbness and tingling of foot iii. Cervical radiculopathy: spinal nerve impingement in neck area 1. Numbness in hands and fingers c. Diabetic Peripheral Neuropathy i. Both sensory and motor nerves are affected 1. High glucose levels cause cellular damage 2. Structural breakdown of nerves ii. Loss of pain sensation may allow for further wounding undetected by patient 1. Assessment of extremity health (feet) is important part of diabetic care d. Complex Regional Pain Syndrome (CRPS) i. Chronic, progressive disorder of unknown cause but dysfunction with autonomic nervous system and trauma ii. Severe pain, edema, discoloration of injured area iii. Associated with dysfunction of autonomic nervous system  iv. Combined treatment of physical therapy, pain medications, and occupational therapy e. Postherpetic Neuralgia (Chickenpox and shingles) i. Varicella zoster “chickenpox” ii. Remains dormant along nerves after infection iii. Reemerges as “shingles” (renamed “herpes zoster” when in an adult) iv. Commonly produces acute, vesicular, and linear rash along specific nerve f. Fibromyalgia i. Pain presents at specific, exact tender points ii. Diagnosis requires pain in 11 of 18 specific sites pressure points iii. Linked to depression, fatigue, headaches, anxiety iv. More common in middle aged Caucasian women v. Joints are not affected g. Trigeminal Neuralgia i. Stabbing pain in facial area, arising from trigeminal nerve (cranial nerve V) ii. Very severe, lasting from a few seconds to minutes iii. Pain can be triggered by touch, sounds, brushing teeth, eating, drinking iv. Anticonvulsants and muscle relaxers can lessen pain and rate of attacks Chapter 6 Study Guide (11 Questions) 1. Describe how the Simple reflex works Protective responses that do not involve brain input a. Afferent neuron i. Incoming signal to dorsal horn of SC ii. Sensory nerves iii. Afferent = Arriving to SC b. Interneuron (intermediate) i. Connector c. Efferent neuron i. Outgoing signal from ventral horn of SC ii. Motor nerves (so we know to move from a hot stove, sharp object, etc, protective mechanism) iii. Efferent = Exiting the SC d. Can assess deep tendon reflexes using a reflex hammer (patellar reflex) 2. What are the spinothalamic and corticospinal tracts? What is their function? a. Spinothalamic tract i. Primary ascending tract for pain signals from spinal cord to brain ii. Sensory, pain, temp, pressure b. Corticospinal tract i. Outgoing signals from the brain travel on this descending tract ii. There is a decussation (crossing over) in the medulla 1. Therefore, patients with left brain injury will have right sided motor weakness.  2. Controls motor muscles in response 3. What is a decussation? Where does this occur for the corticospinal tract? Why is this clinically important? a. Decussation refers to the crossing over of nerve fibers from one side of the CNS to the other at the junction of medulla oblongata and spinal cord b. This is important in understanding and predicting effects of neurological injuries and to determine whether motor deficits are ipsilateral or contralateral 4. Describe the gate control and neuromatrix theories of pain. a. Gate control theory i. Pain is not necessarily proportional to the amount of tissue injury, spinal cord block or allow pain signals to travel to brain ii. Sensation travels both to and from the brain (affects). b. When gate is open i. When pain nerve fibers from the periphery are stimulated and the interneuron gate is open, the neural stimulus is transmitted up the spinal cord to the brain for recognition. c. When gate is closed i. When large nerve fibers from the periphery are stimulated, small-diameter pain fibers cannot get through the interneuron gate. They don’t reach the brain. d. Chronic pain syndromes i. The gate is always open, the brain gets overloaded with pain signals, and the brain is unable to moderate the pain. Cognitive function is altered also. e. Steps of gate control theory after injury i. Transduction 1. Painful stimuli into neuronal signals ii. Transmission 1. Traveling of the nerve impulse or “neuronal signal” in dorsal horn, afferent to efferent iii. Modulation 1. The effect of the interneuron on the afferent neuron; the effect can be amplification or dampening of pain iv. Perception 1. Conscious awareness of the pain (developmental level past experiences, mental health, mood can all affect perception) f. Phantom limb pain (challenges gate theory) i. 70% of amputees report burning, cramping, and shooting pains long after the amputation has occurred. ii. Neruomatrix theory (explains this) 1. Pain is a multidimensional experience and pain generated from nerve impulses of the body-self neuromatrix in brain 2. Neuromatrix is genetically determined and develops from sensory input throughout a person’s life 3. The brain can generate painful stimuli apart from nociceptive stimulation (when tissue is injured = nociceptive pain)  a. Nociceptive pain is not prerequisite 5. List common neurotransmitters involved in pain transmission. 1. Excitatory a. Acetylcholine and norepinephrine 2. Inhibitory a. dopamine, serotonin, and GABA 6. Differentiate between dermatomes and myotomes. Why do we use them clinically? i. Dermatomes (skin area that’s innervated by sensory fibers of single nerve root, sensory) and myotomes (group of muscles that’s innervated by motor fibers of single nerve root 1. Spinal nerves innervate the body in specific patterns 2. Alterations in sensation or motor control can be “mapped” to specific spinal nerves based on location 3. Can be used to determine diagnosis, for example leg pain may be due to a nerve issue in the lumbar 7. What is acute and chronic pain? How long must the pain persist to become chronic? a. Acute i. Results from new onset of tissue injury or inflammation. ii. Acute pain is sudden, lasts hours to days, and resolves with healing of the disorder. b. Chronic i. Pain persists beyond the expected time for a given disease process or injury and is defined as having a duration greater than 6 months. ii. Can be due to persistent inflammation; does not serve a biological or protective function iii. Ex, Cancer, osteoarthritis, and rheumatological diseases such as rheumatoid arthritis. c. Note neuropathic pain can be chronic or acute 8. Discuss how to comprehensively assess a patient’s pain. a. Cutaneous – cuts and bruises of the skin, minor burns b. Deep somatic - originates from ligaments, tendons, bones, blood vessels, and nerves themselves. i. produces a dull, poorly localized pain of longer duration than cutaneous. ii. Sprains, strains, broken bones, and myofascial pain (trigger points). c. Visceral pain i. is defined as pain emanating from deep organs, usually resulting from disease processes. ii. pain can be vague and not well localized iii. is usually described as pressure-like, deep squeezing, dull, colicky, or diffuse. d. Referred pain i. occurs when the pain response occurs at a distance from the actual pathology. ii. Hallmark of visceral pain  iii. Ex. Pain down left arm during a heart attack (MI). 9. Pain assessment a. 5th vital sign, pain is subjective, variable, verbal or nonverbal expressions, can aid in diagnosis b. OLD CART method for subjective assessment i. Onset, location, duration, characteristics, aggravating factors, relieving factors, treatment. 10. Describe the WHO step ladder approach for prescribing opioid, nonopioid, and adjuvant medications. a. World health organization step analgesic ladder i. Provides an approach to pharmacological management of pain. ii. Start with step 1 drugs first, then progress if pain is still present. (except cancer as you usually start with step 3 drugs first) 1. Mild-mod nonopioids 2. Mod-severe mild opioids 3. Severe strong opioids iii. Always best to start with adjuvant and nonpharmaceutical treatment 11. Identify non-pharmacological treatments for pain. i. Therapeutic education (patient education on pain, understanding) ii. Exercise, massage, TENS (electrical stimulation) iii. Psychology and behavioral therapy iv. Occupational therapy v. Physiotherapy vi. Nursing interventions vii. Acupuncture viii. Guided imagery ix. Intradiscal electrochemical therapy x. Botulinum neurotoxin (botox) 12. Recognize specific types of pain syndromes. a. Cancer pain i. May be intermittent or chronic ii. Tumors can cause pain by placing pressure on adjacent structures iii. Inflammatory mediators and enzymatic destruction of tissues iv. Chemotherapy and radiation therapy v. Bone pain often occurs with metastatic cancers b. Spinal nerve radiculopathy i. Spinal nerve impingement ii. Lumbosacral area 1. Often affecting sciatic nerve leading to “sciatica” 2. Pain radiates down the leg with numbness and tingling of foot iii. Cervical radiculopathy: spinal nerve impingement in neck area 1. Numbness in hands and fingers c. Diabetic Peripheral Neuropathy  i. Both sensory and motor nerves are affected 1. High glucose levels cause cellular damage 2. Structural breakdown of nerves ii. Loss of pain sensation may allow for further wounding undetected by patient 1. Assessment of extremity health (feet) is important part of diabetic care d. Complex Regional Pain Syndrome (CRPS) i. Chronic, progressive disorder of unknown cause but dysfunction with autonomic nervous system and trauma ii. Severe pain, edema, discoloration of injured area iii. Associated with dysfunction of autonomic nervous system iv. Combined treatment of physical therapy, pain medications, and occupational therapy e. Postherpetic Neuralgia (Chickenpox and shingles) i. Varicella zoster “chickenpox” ii. Remains dormant along nerves after infection iii. Reemerges as “shingles” (renamed “herpes zoster” when in an adult) iv. Commonly produces acute, vesicular, and linear rash along specific nerve f. Fibromyalgia i. Pain presents at specific, exact tender points ii. Diagnosis requires pain in 11 of 18 specific sites pressure points iii. Linked to depression, fatigue, headaches, anxiety iv. More common in middle aged Caucasian women v. Joints are not affected g. Trigeminal Neuralgia i. Stabbing pain in facial area, arising from trigeminal nerve (cranial nerve V) ii. Very severe, lasting from a few seconds to minutes iii. Pain can be triggered by touch, sounds