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salty-skin, frequent lung infections, Muscular DystrophyDystrophin-over 30 different geneticdiseases-Duschenne most common (missing dystrophin), affects skeletal & cardiac Muscle-Fascioscapulohumeral-faulty dystrophin-Myotonic; congenital, juvenile, adult, late onset-over 50ACID-BASE Imbalance -> Normal 7.4, ranges from 7.35 to 7.45oEnzymes act in narrow pH range20:1 base to acid ratioRespiratory system- alters carbonic acid levels Acidosis-> CO2 upKidneys- modifies excretion rates of acids, Most effective control systemAcidosis: excess Hydrogen ionsAlkalosis: deficit in Hydrogen ionsAcidosis HCO3- downAlkalosis HCO3- down**compensation occurs to balance relative ratio (20:1), NOT total concentrationBLOOD DISORDERSHemocrit- proportion of cells (RBC)
-indicates viscosity & inc or dec in hydrationHemoglobin: Tetramer-> 4 hemes which carry 1 oxygen eachHemostasis: Hemophilia A: 90% of cases, deficit of clotting FACTOR III, an X-linked recessive traitHemophilia B: Xmas disease, deficit FACTOR IVHemophilia C: factor XI, milder formBlood therapies:oWhole blood: for severe anemiaoArtificial EPO (stimulates RBC production)oBone marrow Transplants: some cancers, immune deficiencies, blood cell diseaseANEMIAS-can lead to ANGINA or CHFHemoglobin deficit= reduction in oxygen transportGeneral signsFatigue, pale face, dyspnea, tachycardiaCausesNutrient deficiencyImpaired bone marrowBlood loss or excessive destruction of RBCsIron deficiency: impairs hemoglobin, very common, usually underlying CAUSEPernicious AnemiaoLarge, immature, nucleated erythrocytes(RBCs)oSYMPTOMS-> Tongue large, RED, sore, shinyoAplastic AnemiaoTemporary or permanent impairment or failure of bone marrowoBone marrow cells replaced by FAToCause must be ID’d for prompt treatment & marrow recover or is LIFE threateningHemolytic anemiaoCAUSE: excessive destruction of RBCs via many causesSickle Cell Anemia-> abnormal hemoglobinoGenetic condition; autosomal rec., heterozygous R carrierMore common n AFRICAN ancestryoSickle cell crisis occurs when LOW O2levelsWhen deoxygenated HbS is unstable and crystallizes=sickle shapeThalassemiaoMost common blood disorder in worldoAbnormal hemoglobin due to missing genesANEMIAS CONT.PolycythemiaoPrimary polycythemia->Increased rate of RBC production
Secondary polycythemia-> Increased RBC production due to prolonged HypoxiaoConcerns for both:Sluggish blood flowIncreased BP & hypertrophied heartIndications of Blood clotting DisordersoPersistent bleeding in gums & nose bleeds, bleeding into joint, coughing up/vomiting blood, blood in feces, vomiting, low BPCauses of clotting disordersoDefective platelet functionoLong term use of warfarinHemophilia A (classic)oMost common inherited clotting disorderoVarying severityoSpontaneous bleeding into jointsDisseminated Intravsascular CoagulationoExcessive clotting & excessive bleeding in circulationoClotting factors reduced to dangerous leveloWidespread uncontrollable bleedingo