Survey of Human Disease Exam 2 Notes

Chapter 4: - Cancer = uncontrolled growth of abnormal cells - Can spread to other parts of the body, known as metastasis - Epidemiology -- study of the distribution, transmission, and treatment of disease across a specified area - Interesting: the most common area of...

Chapter 4: - Cancer = uncontrolled growth of abnormal cells - Can spread to other parts of the body, known as metastasis - Epidemiology -- study of the distribution, transmission, and treatment of disease across a specified area - Interesting: the most common area of cancer within men is prostate and the most common place of cancer for women is the breast - The leading sites of cancer deaths in the U.S. are the lung and bronchus - Benign vs. malignant tumors (also called neoplasms) - Benign -- - Organized and uniform cell growth, expansion, cellular characteristics - Not invasive into other tissues - Encapsulated by fibrous cconnective tissue - Malignant -- - Uncontrolled growth of cells - Invasive in growth - Lose cellular uniformity and characteristic - Metastasis possible - Nomenclature of tumors - - Polyp -- epithelial tumor that is benign - Carcinoma -- confirmed cancer cells that are derived from epithelial cells and includes those of the prostate, lung, and colon - Sarcomas -- those of the connective tissue (bone, cartilage, fat) - Leukemias -- cells that comprise the blood cells - Lymphoma -- that of the lymphatic system - Blastoma -- cancers from immature precursor cells or embryonic tissue - Benign tumors have the suffix -oma usually - Known risk factors for cancer: - AGE - Tobacco - Infections - Radiation -- carcinogens cause changes to certain genes, can damage DNA - Chronic inflammation -- those with inflammatory bowel diseases - Immunosuppressive medications - Less able to detect and destroy the cancerous cells via cytotoxic T cells (CD8) - Diet -- may change a cancer risk - Hormones -- estrogens are actually known to be human carcinogens - Viruses -- HPV, EBV, HIV, HBV, HCV - Obesity -- increases the risk - Sunlight -- radiation form that can cause early skin aging and damage skin more than anything - Cancer has general s/sx: - Unexplained weight loss from the nutrient intake of the cancer cells and starvation of the normal cells of the body - Fever - Fatigue - Cough - Pain - Skin changes - Leukoplakia -- thick, white patches on the inside surfaces of the mouth - Bleeding that is unexplained and does not stop a lot - Cancer etiology - - Puzzles people, can be explained by genetics a little bit - Genes -- - oncogenes (mutated gene that can cause cancer) - proto-oncogenes though help normal cells to grow, so if they mutate or make too many copies then you have cancer from the uncontrolled cell growth - tumor suppressor (encodes for genes that act to regulate cell division and to keep it in check -- protect it from becoming cancer - suicide genes (cell apoptosis -- programmed cell death) - DNA repair genes -- correct the mistakes that are found within DNA - Gene mutations that are inherited or acquired are not always risk factors for causing cancer - Mutations - Carcinogens - Cancer diagnosis: - Blood work - Diagnostic imaging: radiography, CT, MRi, ultrasound - Biopsy - Treatment: - CEA (a tumor associated antigen) can monitor the response to therapy - Radiotherapy is localized whereas chemotherapy is more systemic - Chemo works throughout the entire body and treats distant metastatic sites - Chemo typically targets the different phases of the cell cycle - Intensity and level of treatment has to balance so doesn't kill too much of normal cells - Just need to know the difference between naked and conjugated antibodies for that slide - Many ways to prevent the risk factors for cancer development Chapter 5: - Genes are different combinations of nitrogenous bases (CTGACTGA) - Chromosome: in the human body, there are 20,000 to 25,000 genes - DNA so big that it needs compression (made possible by histone proteins to help wrap around to make the chromosomes) - Loci is an area on the chromosome that houses a gene - Alternative form of gene is an allele - So for eye color example, there is an alternative form of that gene within the **same locus** - Dominant allele (brown) is the one that you manifest - Only thing that changes is the form of the gnee, not the loci (same across the entire human genome) - Karyotype: pictural representation of your chromosomes - Allows you to tell if someone has certain genetic disorders - Ex: down syndrome, at chromosome 21, extra pair is there - Sex cells meiosis, everything else is by mitosis - Mitosis -- diploid, meiosis -- haploid (reason for needing the other partner's gamete to produce an embryo) - Prophase -- chromosomes condense and become visible, centromeres of combined sister chromatids, centrosomes release spindle fibers, nuclear envelop degrades and so does the nucleolus - Metaphase -- chromosomes lined up on the middle of the cell, with each sister chromatid being attached to a centromere. - Anaphase -- the sister chromatids are at the end of the cells - Telophase -- the separate nuclei and nucleoli begin to form - Cytokinesis -- division with equal sharing of cytoplasm - 46 -- 22 pairs of autosomes and 1 pair of sex chromosomes - Can have mutations on either type of chromosome - Can have extra or loss of copy - Sex linked can be additional or missing X - Autosomal dominant disorder: you need to inherit only one copy from your parents (typically present with that disease from one copy - Huntingtons disease - - Polydactyly - - Achrondroplasia -- short limb dwarfism - 80% of cases are new mutation - Faulty cartilage growth that affects long bones - Breathing problems and ear infections - Marfan syndrome - - Familial hypercholesterolemia - You have a 50% chance for affected child (dominant), while the chance for recessive is 25% if one parent is affected - Autosomal recessive -- have to inherit 2 copies - 25% for affected (would need homozygous inheritance for disease manifestation) and 50% for carrier child - Cystic fibrosis - Mutation on chromosome 7 that affects the CFTR gene - Defined by abnormality in transport of NaCl across cell membranes - Affects chlorine channels of the cells and exocrine glands all throughout the body - Presents with thickened mucous secretions - Average lifespan is 32 - Hemochromatosis - Excessive iron absorption, bronze skin, cause pancreatic issues, cirrhosis of the liver - Tx is blood drawing and medication to bind iron - Phenylketonuria - Deficiency of phenylalanine hydroxylase (phenylalanine -\> tyrosine) - Increase in phenyl pyruvic acid which causes mental deficiency - Restriction of phenylalanine in the diet -- tx - Dx via blood test after birth - Galactosemia - Sickle cell anemia - Both genes child inherited are hemoglobin S - Before marriage, checking for sickle cell anemia carrier is a possible risk - Sickle cells plug capillaries and blood vessels which causes pain - Tay-Sachs - In Jewish origin - Hexose aminidase A absence, allows gangloside to accumulate and make red spot in retina - Death between 3 and 4 years old - Blood test - Albinism - X-linked disorder - Hemophillia is carried on the X-chromosome - Deficiency of coagulation factor VIII and is characterized by joint bleeding - Men are more affected because they have one X chromosome because the Y is very small and does not have much genetic information - Hemizygous -- men having a trait that is on the X - Treatments include clotting factors, avoiding trips and falls - Queen Victoria blood line example - Fragile X Syndrome - Constriction on the end of the chromosomes from large number f CGG repeats - Long, narrow face, large ears, prom jaw and forehead, flat feet and large balls in men - Abnormal Chromosome Disease - Down Syndrome -- - Trisomy 21 (just an extra copy at position 21) - Shorter lifespan and mental impairment with characteristic appearance - 50% are at risk for cardiac defect - Eyes with an upward slant, low muscle tone, deep crease across palm, small stature - Sex anomalies - Missing copies - Hermaphroditism - Klinefelter's -- extra X chromosome - Has XXY - Phenotypically a male though - Some more female characteristics from the extra X - Breast, sparse facial hair, underdeveloped testes, learning/speech problems, dyspraxia (balance issue) - Turner's Syndrome -- gonadal dysgenesis - Look like females but only have 1 X chromosome - Phenotype normal but genotype is abnormal - Missing sexual organs - Heart defects, short, infertility - Screening for these disorders occurs through genetic counseling and diagnosis - Amniocentesis -- take a needle and place through belly, and take amniotic fluid for analysis, 14 weeks and above - Chronic villus sampling -- tells you the gender of the child as well, transvaginally done and can read under 10 weeks of age - Gene Therapy - Congenital Disorders - **Present at birth - key** - Infection, radiation exposure, environment, drug, inherited genetic - Congenital rubella -- mother must have rubella infection during pregnancy - Cerebral palsy -- issues with deliver which influenced the brain - Hydrocephalus -- abnormality in drainage of CSF (swelling of the head) - Spina bifida -- folic acid deficiency - Cleft lip and palate Chapter 6: - S/F of the heart: - Myocardium -- muscular portion that is thickest and the middle layer - Endocardium -- innermost layer that covers the values as well and vessels - Pericardium/Epicardium -- external covering of the heart - Visceral -- covers heart itself - Parietal -- lining of the sac (clear lining of the heart) - Pericarditis -- inflammation of pericardial space that can house infections - Can have inflammation of any of the space - Heart SF in detail: - AV valves -- atrioventricular (mitral and tricuspid) - Bicuspid/Mitral on the left side (has 2 flaps) - Tricuspid on the right side (has 3 flaps) - Diastole -- when heart is at rest, valves are open and blood fill those spaces - Systole -- when heart is contracting/pumping - Coronary arteries -- although heart pumps blood, the organ needs blood to survive from the Cas. - MI is because one of the coronary arteries is blocked - Blood drains in Superior vena cava for brain and higher organs - Blood low in O2 but high in CO2 - Aorta is thick in muscle because needs more force to oxygenate the entire body - Only exception to arteries having oxygenation blood - Also, from umbilical cords when a baby is born - Ventricular valves -- aortic and pulmonary valves - Other name is semilunar valves - The little openings in the aorta are for the coronary arteries - Branches of the coronary arteries -- right and left (but they are branched) - Left CA goes into left anterior descending and circumflex - **LAD is the most common spot for a MI effected** - Right CA goes into right marginal and posterior interventricular which gives posterior wall of heart - Coronary sinus is what drains the blood from coronary artery - Conduction System -- autonomic system that helps the heart to beat and generate its own electricity - Electrical Conduction - SA node -- pacemaker, where the electricity is generated (located in the right atrium) - AV -- node that receives from SA - Bundle of His is hit, right and left branches are hit - Purkinje fibers then distribute charge to myocardial cells - Nodes are under the influence of cardioacclerator (cardiac nerve) and caridoinhibitor (vagus nerve) - Types of circulation: - Pulmonary circulation: right ventricle to the lungs - Systemic: from left ventricle to whole body through aorta into arteries -\> arterioles -\> capillaries (gaseous exchange due to meshwork -\> venules -\> veins -\> vena cava - Aorta and vena cava are the largest - Arterioles and venules - Capillaries smallest - Tests: - Echocardiogram -- US of the heart - Do not need to know the PQRS complex for the exam - Doppler ECG -- use dye effect and see more colors - Cardiac catheterization. -- look for blockages in vessels - Coronary arteriography -- dye, map of arteries to look for blockages - Arrhythmia is a disturbance in the sequence of electrical conduction from the SA node to the Bundle of His - Myocardial diseases: - Myocarditis -- inflamed heart muscle - Usually from a virus like Coxsackie, adenovirus, echovirus - Treatment is bedrest and treatment of underlying condition - Usually no permanent heart damage happens - Cardiomyopathy - Dilated: looks like someone in heart failure bc heart is dilated and valves are weak, not pumping enough from weakness - **Hypertrophic -- the one that is most common among young athletes, enlargement of the walls** - Restrictive -- chambers are very large, so stops blood from coming to the blood - Usually genetic, other factors do contribute - Tx: medications (diuretics, antibiotics), surgically implanted devices, heart transplant - Endocardial diseases - Vegetations - Bacterial collections within the heart valves that comes from RHD - Risk for infective endocarditis is rheumatic heart disease - Rheumatic fever - Occurs in children between 5 and 15 years of age - Usually has staphylococcal infection and it is poorly treated, sometimes the bacteria can then go and affect the heart valves - Rheumatic heart disease -- unusually use prophylactic antibiotics - Prevents from bacteria moving to bloodstream and valves - Heart valve diseases: - Stenosis: valves are weak, stenosis means there is fibrosis which limits flexibility. - Regurgitation or Incompetence: valves are weak - Imagine if valves cannot work well, there is backflow of blood and thus there is valvular regurgitation - Treatment will be replacement with artificial valves - Aortic valve replacement is an example - Prolapse mitral valve similar to incompetence - The valve is bulging into the left atrium when the ventricle contracts - Can make diagnosis by cardiac echo - Most common sign is chest pain, treated with beta blocker. - Prophlyaxis antibiotics are also used here for the prevention of the infection within the endocardium from bacteria migrating via the bloodstream - CVD: - Lipids play a large role within the generation of these set of disease - Hyperlipidemia -- high fat amount in the blood - Lipoproteins -- help to transport proteins - Low density -- bad cholesterol - What carries cholesterol from the liver and distributes all through the BV - High density -- good cholesterol - Carries chole from body to the liver to get processed - LDL bad, HDL good -- don't want high of the LDL and low HDL - High LDL puts u at risk for atherosclerosis - Could make plaques - Hypercholesteremia -- high cholesterol found within the blood - CAD - **First thing that happens is endothelial injury** (test question) - **Refers to one from high BP over time, increased motion** - **Can be prevented from the modifiable risk factors** - Macrophages then are released, absorb cholesterol and lipid from the blood -- macros look like fam cells - Smooth muscle cells and fibroblasts replicate, deposit fibrin and this becomes the atheromatous plaque - Foam cells -\> deposition of fibrin -\> plaque is made and increases in size untl there is partial or complete obstruction (causes MI which is likely to cause death) - Partial can be found with chest pain when exercise - Cardiac stent is a possible intervention - Narrowing of the coronary artery that supplies the heart - High levels of cholesterol and lipids causes the buildup - Risk factors: - Familial hypercholesteremia (200,300,400 LDL) - Genetic -- non mod - Age -- non mod - Male -- non mod - Elevated BP, cholesterol, and lipoproteins - Smoking - Overweight - Obesity - Stress - Bad diet - Stable plaque -- complete blockage - A mm decrease applied to the fourth power can cause increased blockage - Flow rate varies with the fourth power of the lumen diameter - Imaging: - Coronary angiograms can be used with X-rays to visualize the heart BV - Tx: angioplasty with balloon like stent placement (can be inflated to create a space) - If that does not work, can do a bypass surgery - Arteriosclerosis -- artery walls become thick, hard, and not flexible - Usually from calcium deposition, cholesterol, aging - Atherosclerosis -- only concerns lipid deposition - Is an example of arteriosclerosis - Aspirin helps to reduce cardiac risk in CAD - Inactivates thromboxane A2 to stop clotting process - Peripheral arterial disease -- all the changes that can happen in the heart can also occur in any other arteries within the body - Usually seen in people with diabetes - Intermittent claudication -- lower extremity muscle pain that occurs during exercise - Aneurysm -- ballooning of artery, abnormal dilation (asymptomatic) - Can be born with it, over time - Saccular - Fusiform - Either can occur within abdominal, thoracic, brain - There is no real screening for it, other than examination of family history - Hypertension - Over 70% of HTN is essential -- no real cause but there are risk factors - Secondary -- we know what is causing that HTN - Could be complication of kidney disease, adrenal tumor - 140/90 is stage 1 HTN, stage 2 is 160/100 - 120/80 is the standard BP value - Disease of venous circulation: - Varicose veins: - Weakness of the valves of the veins - Spider vein appearance - Managed by compression sclerotherapy -- helps to milk the valves and move blood flow - Cardiac arrythmia -- heart conduction is abnormal - Tachycardia -- pulse is 60 to 100 - Bradycardia -- pulse below 60 - Normal low pulse rates for atheletes - Congestive heart failure - Chronic degradaition in blood pumping ability by the heart - Present with dyspnea, cough, swelling (edema) from no movement of fluids - Tx: beta blockers, diruetics - Shock -- BP drops so low that it cannot sustain life - Anything causing the BP to go very low - Cardiogenic -- heart affected via MI, heart not operating properly and no beating so no blood being supplied to body systems - Hypovolemic -- in accident and fracture of hip bone, carries a lot, bleeding out because losing so much blood -\> low volume bc of the traumatic injury - Anaphylactic -- due to allergic reaction, BV dilated and blood flow reduced - Septic -- infection like staph, leads to dilated BV which then leads to shock - Neurogenic -- nerves tell the BV to dilate and contract - If damaged, the control of BV is messed up - Fetal circulation - Child in utero gets blood from mother through the placenta through umbilical vein and the artery - Ductus venosus comes from umbilical vein - When born closes up and becomes ligamentum teres - High pressure in lungs, so blood does not go to lungs - Bypasses them and goes through foramen ovale (hole between right and left shunt of atria) - Cardiac congenital abnormalities - 1\. Foramen ovale fails to close - 25% have it - 2\. Coarctation of aorta - Narrowing in artery aorta - 3\. Patent ductus arteriosus -- open between pulmonary artery and aorta - 4\. Tetralogy of Fallot (know this) - Stenosed pulmonary semilunar valve - Aorta emerges from both ventricles - **Interventricular septic defect** - **Enlarged right ventricle (NOT left ventricle) (hypertrophy)** **Cancer signs not specific** **Osteoma -- benign tumor from the bone** **Cyclins are not in the DNA division process** **Oncogenes can lead to cancer** **Sex chromosomal abnormality -- turners** **Supplementary Article Summaries:** **Chapter 4 -** 1. How cancer kills - Cancer disrupts cellular destruction and renewal process, making the new cells abnormal - Genetic condition because it comes from changes in the cellular genes that control cell function where they grow and divide - Person can actually inherit some of these genes from their parents as cancer is genetic. - Oncogenes are abnormal and have the potential to cause cancer from the cell growth to be uncontrollable - Tumors are usually solid masses of abnormal tissue, but some cancers can be within the blood - Cancer cells also do not mature and do not develop into specific cells with specialized functions - Cancer cells can also hide from the immune system - May also command the normal cells to make vascular channels in the tumor to help with growth and spread - "in situ" refers to cancers that have not moved and stay where they are (stage 0) - Early-stage cancer, tumors are small and not deeply embedded in tissues around (stage 1) - Never of these stages deal with the LN as there has been no metastasis - Stage 2 and 3 cancer are larger and may be deeper into tissues as well as spread to LN - Stage 4 is metastatic and has now spread to different parts of the body - **Some people die from cancer fairly quickly, especially if there were unexpected complications or the cancer was very severe. In other cases, it can take months or years.** - In final days with cancer, sometimes there is slow breathing with long pauses that last for 10-30 seconds 2. Mammogram article - The procedure takes about 20 minutes to complete **Chapter 5 -** 3. Birth Defects - Congenital anomalies are in 3% of pregnancies - Most common is a heart defect with no obvious cause and there is the chance of developing it if the woman has smoked or is even a diabetic - Most common HD is a ventricular septal defect - Hole in the wall that separates the lower 2 ventricles - Limb reduction -- limb does not form in the womb - Cleft lip -- tissues that form roof of the mouth or lips do not join right - Neural tube defects -- brain and spinal cord are the organs that are affected - Anencephaly -- part of brain or skull do not frm at all - Encephalocele -- neural tube does not close fully - Spina bifida -- spine does not form and close right (1/2758 births) - - Can be structural (3%) or developmental (affect 17%) categories - Structural relate to body parts - Heart defects, spina bifida, cleft lip or palate, clubfoot - Developmental has to do with the function of the body parts - Down syndrome -- 1/700 affected - Generally, 50% of congenital anomalies have no obvious cause - Nearly 1% of babies are born with CHD (congestive heart disease) - Atleast 15% of people with CHD have a genetic disorder as well -