salty skin frequent lung infections Muscular Dystrophy Dystrophin over 30

Salty skin frequent lung infections muscular

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salty- skin , frequent lung infections , Muscular Dystrophy Dystrophin-over 30 different genetic diseases -Duschenne most common (missing dystrophin), affects skeletal & cardiac Muscle - Fascioscapulohumera l -faulty dystrophin -Myotonic ; congenital, juvenile, adult, late onset-over 50 ACID-BASE Imbalance -> Normal 7.4, ranges from 7.35 to 7.45 o Enzymes act in narrow pH range 20:1 base to acid ratio Respiratory system - alters carbonic acid levels Acidosis-> CO2 up Kidneys - modifies excretion rates of acids, Most effective control system Acidosis : excess Hydrogen ions Alkalosis : deficit in Hydrogen ions Acidosis HCO3- down Alkalosis HCO3- down **compensation occurs to balance relative ratio (20:1), NOT total concentration BLOOD DISORDERS Hemocrit - proportion of cells (RBC)
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-indicates viscosity & inc or dec in hydration Hemoglobin : Tetramer-> 4 hemes which carry 1 oxygen each Hemostasis : Hemophilia A : 90% of cases, deficit of clotting FACTOR III , an X-linked recessive trait Hemophilia B : Xmas disease, deficit FACTOR IV Hemophilia C : factor XI, milder f orm Blood therapies: o Whole blood: for severe anemia o Artificial EPO (stimulates RBC production) o Bone marrow Transplants: some cancers, immune deficiencies, blood cell disease ANEMIAS- can lead to ANGINA or CHF Hemoglobin deficit = reduction in oxygen transport General signs Fatigue, pale face, dyspnea, tachycardia Causes Nutrient deficiency Impaired bone marrow Blood loss or excessive destruction of RBCs Iron deficiency: impairs hemoglobin, very common, usually underlying CAUSE Pernicious Anemia o Large, immature, nucleated erythrocytes(RBCs) o SYMPTOMS-> Tongue large, RED, sore, shiny o Aplastic Anemia o Temporary or permanent impairment or failure of bone marrow o Bone marrow cells replaced by FAT o Cause must be ID’d for prompt treatment & marrow recover or is LIFE threatening Hemolytic anemia o CAUSE: excessive destruction of RBCs via many causes Sickle Cell Anemia-> abnormal hemoglobin o Genetic condition; autosomal rec., heterozygous R carrier More common n AFRICAN ancestry o Sickle cell crisis occurs when LOW O 2 levels When deoxygenated HbS is unstable and crystallizes=sickle shape Thalassemia o Most common blood disorder in world o Abnormal hemoglobin due to missing genes ANEMIAS CONT. Polycythemia o Primary polycythemia-> Increased rate of RBC production
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Secondary polycythemia-> Increased RBC production due to prolonged Hypoxia o Concerns for both: Sluggish blood flow Increased BP & hypertrophied heart Indications of Blood clotting Disorders o Persistent bleeding in gums & nose bleeds, bleeding into joint, coughing up/vomiting blood, blood in feces, vomiting, low BP Causes of clotting disorders o Defective platelet function o Long term use of warfarin Hemophilia A (classic) o Most common inherited clotting disorder o Varying severity o Spontaneous bleeding into joints Disseminated Intravsascular Coagulation o Excessive clotting & excessive bleeding in circulation o Clotting factors reduced to dangerous level o Widespread uncontrollable bleeding o
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