Summary SCI 225 Pathophysiology - Nightingale College pathophysiology Midterm study guide.

notes 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 ...

notes 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 bodyThe 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. • 2nd 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 opsoni