n o t e s Monday, February 20, 2023 9:19 AM Homozygous ✓ the same - BB= homozygous dominant; bb homozygous recessive Heterozygous ✓ different-Bb - Phenotype ✓ the expression of the trait (are the eyes blue?) Genotype✓ exact pairing of the alleles( B =blue eyes b=green eyes) BB,bb,Bb Alleles ✓ •Recessive •Dominant Chromosomal disorders •Turner syndrome→ 45 chromosomes/ missing sex chromosomes. •cri-du - chat syndrome:→ 5 chromosomes has a deletion •Burkitt lymphoma- translocation of chrome 8→ leads to lymph cancer •Down syndrome- 14/21 translocation = 46 chromosomes. •Down syndrome trisomy -Chrome 21 non disjunction= 47 chrome. •Klinefelter syndrome=47 chrome *23 chrome non dis junction trisomy. Chromosome mutation- duplication, deletion, inversion, translocation Genetic disorders can be caused by dominant allies(one parent can pass it) or by recessive alleles ( both parents must carry
it) •Duchenne muscular dystrophy is X linked recessive - (gene dystrophen abnormality) •Cystic fibrosis →excessive mucus in the lungs, heterozygote you have to inherit two recessive alleles •Sickle cell anemia →The gene that codes For hemoglobin (Carrie’s oxygen to the blood) is mutated it is recessive the
makes it difficult for cells to carry oxygen because the cell shape has been affects Can be a carrier if one patent passes
the gene •Huntington → autosomal dominant,Late onset, degenerative auto. •Neurofibromatosis-autosomal dominant 50/50 % chance of inheriting genetic mutation (Type 1 and Type 2: cognative and
dermatologic) X linked inheritance- mom =XX ; dad=XY 22 pairs of autosomes (not sex chromosome) hemophilia, red-green color blindness, congenital night blindness, some high blood pressure genes, Duchenne muscular
dystrophy, and also Fragile X syndrome. mutation-change in DNA or RNA. Gene mutations→ substitutions, interaction, deletion. Insertion and deletion are more dangerous =Frame shift mutation →
everything read Afterwards could be affected translocation,transcription,Translation, gene splicing, Frame shift mutation. Necrosis → 6 types •Fibrinoid necrosis -vessel leaking fibrin, thick pink vessel can be from hypertension or antibody deposition •Liquidfactive necrosis -usually seen CNS from loss of blood supply. Dead leukocytes , liquify with enzyme, bacterial
infection. •Fat necrosis white chalk fat deposits calcium, physical damage, pancreatitis enzyme damage. •Caseous necrosis - macrophages wall off infection, granuloma, TB, •Coagulative necrosis - ischemic decreased blood flow, dead area retains shape, cell loose nucleons •Gangrene - black decaying extremity, chronic ischemia, diabetes, dry ischemia and wet infection. Apoptosis natural cell death RBC live for 120 days for cell regeneration. Autophagy- recycling cells, the cell eats its own contents. Alcohol on the body- The Immune System: Inflammatory process- vasodialation, activates clotting, vascular pemeability, mobalize defense cells, kill pathogen and initiates
repair. Inflammatory chemicals dilate blood vessels, which increase blood flow and enhance the vessel. Anti-inflammatory.
Markers are lipids , (omega 3 fatty acids) innate- first natural defense to any intruder, kills no matter what pathogen. •1st Barriers- Skin, mucosa (GI and GU), stomach acid, lactic acid (vagina), Sweat and tears. •2n d barrier- macrophages – white blood cells (pak-man), phagocytosis (eat the pathogens), cytokines (cause
inflammation- messengers) •Dendrite cells- They antigens to get the specific cell response. •Cytokines- the messenger , get the help, monocytes, neutrophils, immune system communication 1.interleukins- protein that regulate immunity and inflammation 2.Interleukins 1- go to the brain, increase temp, giving fever to fight off infection, low appetite to help redirect energy to fight
off infection. 3.Interlukin 6- tells the liver to make opsonins 4.Interlukin 8- gets more neutrophils This study source was downloaded by 100000870334356 from CourseHero.com on 08-21-2023 19:01:34 GMT -05:00
https://www.coursehero.com/file/196264225/pathophysiology-Midterm-study-guide-pdf/ 5.Interlukin 2, 12- get the natural killers cells Opsonin- aids in phagocytosis •C reactive protein- inflammation maker, (the higher the. # the more inflammation) Specific- specialized, takes longer, T cells and B cells are not at the site of infection immediately. Special Ops •Tcell/ Bcell- WBC , leukocytes, •Dendrites cell- present the antigen to see if it matches •T-cell- receptors for specific antigens- CD4 becomes T helper cell •B-cell- antibodies for specific antigens, creates plasma and make antibody, B memory cell will help remember and attackin
the future. •Cytotoxic T cells- kill all the infected cells. Antibody=antidote* to help neutralize, helps from spreading. adaptive immunity – more efficient can tell the difference with pathogens, there is T lymphocytes and B lymphocytes. Interferons- protein that inhibit the virus from replicating Hypersensitivity is an imbalance between effectors and regulators, overreact Hypersensitivity type I- a previous exposure IgE antibodies, now they cause a reaction releasing histamines. causing edema
rash difficult breathing due to bronchospasm, abdominal cramping. Can cause an immediate shock leading to anaphylaxis.
(most allergies) Hypersensitivity type II- IgG or Igm bind on the surface. Cytotoxic. Phagocytosis many autoimmune diseases. Hypersensitivity type III- I gM/ IgG antibodies, inflammation, immune complex induced by drugs. Hypersensitivity type IV- T Cells- Delayed reaction, after a day. Contact dermatitis, TB skin test. These enzymes include protease inhibitors (C1-inhibitor), which inhibit activation of the complement system;
carboxypeptidase, which inactivates the toxic activities of C3a and C5a; kininase, which degrades kinins; and histaminase,
which degrades histamine and kallikrein. The formation of clots activates a fibrinolytic system . This system serves to limit the
size of the clot and degrade the clot after bleeding has ceased. In this system thrombin activates plasminogen, forming the
enzyme plasmin, which degrades the fibrin polymers in clots. Bradykinin functions similar to histamine and increases vascular permeability. Bradykinin can also stimulate nerve endings to
cause pain. Inflammatory exudates result from increased vascular permeability and the leakage of fluid into tissues. Exudates vary in
composition, depending on the stage of inflammation, and, to a lesser extent, the triggering event. In early or mild inflammation,
the exudate may be a serous exudate (watery) with very few plasma proteins or leukocytes (e.g., fluid in a blister). In more
severe or advanced inflammation, the exudate may be a fibrinous exudate (thick and clotted) (e.g., the fluid exudates in the
lungs of an individual with pneumonia). A purulent exudate (pus) is the accumulation of a large number of leukocytes, as
occurs in persistent bacterial infections. A purulent exudate is characteristic of walled-off lesions, known as cysts or
abscesses. When bleeding occurs, the exudate is filled with erythrocytes and is described as a hemorrhagic exudate. AUTOIMMUNE: SLE- Systemic lupus erythematosus (SLE) is the most common, complex, and serious of the autoimmune disorders. Pt dies of
disproportionate dysfunction of other body systems such as the kidneys. Combined deficiencies include the most life-threatening disorders and result from defects that directly affect the development
of both T and B lymphocytes AUTOIMMUNE DISORDER: immune system is overreactive, Steriods calms down the immune system(pt becomes more
sustable to infection diease because the steriods attack the immune system. STEROIDS- HYPERglycemia is a side effect. MS- Myestia Gravis- Graves Disease- HYPERthyroidism, activating the thyroid gland abnormally, ANTIBODY Cushions - Hashimotos-HYPOthyroidism ANTIBODY Thyroiditis- Diabetes Type 1- Rheumatoid Acid Base Imbalance: Basic- you breath O2(Oxygen) in and CO2(Carbon dioxide) out; normal pH 7.35-7.45 Renal and respiratory adjustments in response to primary changes in the pH are known as compensation •Respiratory aciodsis- slow and low Respiration, breath slooow In acidooosis because we keep the CO2 because there
is no good gas xchange. ○Sleep apnea ○HEad trauma ○Port op ○Alcohol can cause , also. Opiods, and benzos ○Pnemonia ○ COPD/ Asthma •Respiratory Alkalosis- FAST RR because we blow out all of the CO2 ○Panic attack/ hyperventillation Metabolic Alkalosis- Vommiting and NGT suction, Metabolic Acidosis- Diarriah and renal failure R.O.M.E- Respiratory opposite Metabolic Equal This study source was downloaded by 100000870334356 from CourseHero.com on 08-21-2023 19:01:34 GMT -05:00
https://www.coursehero.com/file/196264225/pathophysiology-Midterm-study-guide-pdf/
it) •Duchenne muscular dystrophy is X linked recessive - (gene dystrophen abnormality) •Cystic fibrosis →excessive mucus in the lungs, heterozygote you have to inherit two recessive alleles •Sickle cell anemia →The gene that codes For hemoglobin (Carrie’s oxygen to the blood) is mutated it is recessive the
makes it difficult for cells to carry oxygen because the cell shape has been affects Can be a carrier if one patent passes
the gene •Huntington → autosomal dominant,Late onset, degenerative auto. •Neurofibromatosis-autosomal dominant 50/50 % chance of inheriting genetic mutation (Type 1 and Type 2: cognative and
dermatologic) X linked inheritance- mom =XX ; dad=XY 22 pairs of autosomes (not sex chromosome) hemophilia, red-green color blindness, congenital night blindness, some high blood pressure genes, Duchenne muscular
dystrophy, and also Fragile X syndrome. mutation-change in DNA or RNA. Gene mutations→ substitutions, interaction, deletion. Insertion and deletion are more dangerous =Frame shift mutation →
everything read Afterwards could be affected translocation,transcription,Translation, gene splicing, Frame shift mutation. Necrosis → 6 types •Fibrinoid necrosis -vessel leaking fibrin, thick pink vessel can be from hypertension or antibody deposition •Liquidfactive necrosis -usually seen CNS from loss of blood supply. Dead leukocytes , liquify with enzyme, bacterial
infection. •Fat necrosis white chalk fat deposits calcium, physical damage, pancreatitis enzyme damage. •Caseous necrosis - macrophages wall off infection, granuloma, TB, •Coagulative necrosis - ischemic decreased blood flow, dead area retains shape, cell loose nucleons •Gangrene - black decaying extremity, chronic ischemia, diabetes, dry ischemia and wet infection. Apoptosis natural cell death RBC live for 120 days for cell regeneration. Autophagy- recycling cells, the cell eats its own contents. Alcohol on the body- The Immune System: Inflammatory process- vasodialation, activates clotting, vascular pemeability, mobalize defense cells, kill pathogen and initiates
repair. Inflammatory chemicals dilate blood vessels, which increase blood flow and enhance the vessel. Anti-inflammatory.
Markers are lipids , (omega 3 fatty acids) innate- first natural defense to any intruder, kills no matter what pathogen. •1st Barriers- Skin, mucosa (GI and GU), stomach acid, lactic acid (vagina), Sweat and tears. •2n d barrier- macrophages – white blood cells (pak-man), phagocytosis (eat the pathogens), cytokines (cause
inflammation- messengers) •Dendrite cells- They antigens to get the specific cell response. •Cytokines- the messenger , get the help, monocytes, neutrophils, immune system communication 1.interleukins- protein that regulate immunity and inflammation 2.Interleukins 1- go to the brain, increase temp, giving fever to fight off infection, low appetite to help redirect energy to fight
off infection. 3.Interlukin 6- tells the liver to make opsonins 4.Interlukin 8- gets more neutrophils This study source was downloaded by 100000870334356 from CourseHero.com on 08-21-2023 19:01:34 GMT -05:00
https://www.coursehero.com/file/196264225/pathophysiology-Midterm-study-guide-pdf/ 5.Interlukin 2, 12- get the natural killers cells Opsonin- aids in phagocytosis •C reactive protein- inflammation maker, (the higher the. # the more inflammation) Specific- specialized, takes longer, T cells and B cells are not at the site of infection immediately. Special Ops •Tcell/ Bcell- WBC , leukocytes, •Dendrites cell- present the antigen to see if it matches •T-cell- receptors for specific antigens- CD4 becomes T helper cell •B-cell- antibodies for specific antigens, creates plasma and make antibody, B memory cell will help remember and attackin
the future. •Cytotoxic T cells- kill all the infected cells. Antibody=antidote* to help neutralize, helps from spreading. adaptive immunity – more efficient can tell the difference with pathogens, there is T lymphocytes and B lymphocytes. Interferons- protein that inhibit the virus from replicating Hypersensitivity is an imbalance between effectors and regulators, overreact Hypersensitivity type I- a previous exposure IgE antibodies, now they cause a reaction releasing histamines. causing edema
rash difficult breathing due to bronchospasm, abdominal cramping. Can cause an immediate shock leading to anaphylaxis.
(most allergies) Hypersensitivity type II- IgG or Igm bind on the surface. Cytotoxic. Phagocytosis many autoimmune diseases. Hypersensitivity type III- I gM/ IgG antibodies, inflammation, immune complex induced by drugs. Hypersensitivity type IV- T Cells- Delayed reaction, after a day. Contact dermatitis, TB skin test. These enzymes include protease inhibitors (C1-inhibitor), which inhibit activation of the complement system;
carboxypeptidase, which inactivates the toxic activities of C3a and C5a; kininase, which degrades kinins; and histaminase,
which degrades histamine and kallikrein. The formation of clots activates a fibrinolytic system . This system serves to limit the
size of the clot and degrade the clot after bleeding has ceased. In this system thrombin activates plasminogen, forming the
enzyme plasmin, which degrades the fibrin polymers in clots. Bradykinin functions similar to histamine and increases vascular permeability. Bradykinin can also stimulate nerve endings to
cause pain. Inflammatory exudates result from increased vascular permeability and the leakage of fluid into tissues. Exudates vary in
composition, depending on the stage of inflammation, and, to a lesser extent, the triggering event. In early or mild inflammation,
the exudate may be a serous exudate (watery) with very few plasma proteins or leukocytes (e.g., fluid in a blister). In more
severe or advanced inflammation, the exudate may be a fibrinous exudate (thick and clotted) (e.g., the fluid exudates in the
lungs of an individual with pneumonia). A purulent exudate (pus) is the accumulation of a large number of leukocytes, as
occurs in persistent bacterial infections. A purulent exudate is characteristic of walled-off lesions, known as cysts or
abscesses. When bleeding occurs, the exudate is filled with erythrocytes and is described as a hemorrhagic exudate. AUTOIMMUNE: SLE- Systemic lupus erythematosus (SLE) is the most common, complex, and serious of the autoimmune disorders. Pt dies of
disproportionate dysfunction of other body systems such as the kidneys. Combined deficiencies include the most life-threatening disorders and result from defects that directly affect the development
of both T and B lymphocytes AUTOIMMUNE DISORDER: immune system is overreactive, Steriods calms down the immune system(pt becomes more
sustable to infection diease because the steriods attack the immune system. STEROIDS- HYPERglycemia is a side effect. MS- Myestia Gravis- Graves Disease- HYPERthyroidism, activating the thyroid gland abnormally, ANTIBODY Cushions - Hashimotos-HYPOthyroidism ANTIBODY Thyroiditis- Diabetes Type 1- Rheumatoid Acid Base Imbalance: Basic- you breath O2(Oxygen) in and CO2(Carbon dioxide) out; normal pH 7.35-7.45 Renal and respiratory adjustments in response to primary changes in the pH are known as compensation •Respiratory aciodsis- slow and low Respiration, breath slooow In acidooosis because we keep the CO2 because there
is no good gas xchange. ○Sleep apnea ○HEad trauma ○Port op ○Alcohol can cause , also. Opiods, and benzos ○Pnemonia ○ COPD/ Asthma •Respiratory Alkalosis- FAST RR because we blow out all of the CO2 ○Panic attack/ hyperventillation Metabolic Alkalosis- Vommiting and NGT suction, Metabolic Acidosis- Diarriah and renal failure R.O.M.E- Respiratory opposite Metabolic Equal This study source was downloaded by 100000870334356 from CourseHero.com on 08-21-2023 19:01:34 GMT -05:00
https://www.coursehero.com/file/196264225/pathophysiology-Midterm-study-guide-pdf/
