UNIT 3 | Baamboozle - Baamboozle | The Most Fun Classroom Games!

English 51 Public

SIGS unit 3 overview

Study Slideshow

What is the underlying pathogenesis of Von Gierk's (Type I) disease?

glucose-6-phosphatase deficiency (can't go from G6P to Glucose)

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Why does a person with a G6P deficiency need to eat corn starch?

corn starch is a glucose polymer that is broken down slowly = control glucose levels

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Why is there an increase in serum lactate acid in infants with Von Gierk's disease

glucose-6-phosphate is also the substrate for glycolysis and produces lactate

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What are foamy macrophages and their role in FH?

Lipoproteins sequestered -> pro inflammatory -> phagocytes -> cholesterol -> foamy = LDL filled macrophage

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Describe the pathophysiology of FH

Elevated LDL at birth due to lack of LDL clearance from plasma (absent/disorder LDL receptors)

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What is the most distinguished clinical feature you would see on a patient with FH?

Xanthomas

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Explain the rationale for use of HMG-CoA reductase inhibitors in the management of FH

inhibit conversion HMG-CoA to Mevalonate-> reduce cholesterol uptake ->increase synthesis LDL hepatic receptors ->re-uptake LDL = decrease plasma LDL

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In reference to anabolic and catabolic, what is Glycogenesis? What is Glycogenolysis?

Glycogenesis - anabolic (create glycogen to be stored); Glycogenolysis- catabolic (break down glycogen to useable glucose)

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Explain the pathophysiology behind Sickle Cell Disease

RBC is sickled->vaso-oclusion->splenic sequestration + Acute chest pain + Infections; Extravascular hemolysis-> Jaundice + Aplastic crisis

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Rationalize the vital signs in a child with Sickle Cell disease: Fever + Tachypnea + Tachycardia + Pain + Hypotensive

Fever (chest infection) + Tachypnea (RR, low o2 stat); Tachycardia (HR, low o2 stat) + Pain (bone infarction) + hypotensive (hypovolemia, pulmonary edema)

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What are 3 prominent features preseent on the peripheral blood smear of a patient with Sickle Cell disease?

Howell-Jolly Bodies (hyposplenia), Sickled red cells, polychromasia (reticulocytotic)

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why do we treat sickle cell disease with Hydroxyurea?

increases fetal hemoglobin to retard gelation and sickling of RBCs

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What is the pathophysiology of hereditary spherocytosis?

Primary membrane defect (akryin gene-> spectrin protein)-> membrane loss-> spherocyte forms-> splenic trap->erythrostasis = phagocytosis extravascular hemolysis

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Explain the role of parvovirus B19 in the development of acute anemia (aplastic) crisis with chronic spherocytosis

Parvovirus infects and destroys RBC progenitors in the bone marrow, can halt production of RBCs for 1-2 weeks until immune system controls the infection

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Explain the main 3 factors in the pathophysiology behind Normocytic Anemia (where does TTP, HS, SCD fit within a factor)

1. Defects in RBC environment (TTP); 2. Defects in RBC membrane (HS); 3. Defects in RBC internal contents (SCD)

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Explain why these lab findings are abnormal in a patient with HS: Hb, Hct, MCV, total bilirubin, LDH, HPV B19

Hb-low, lifespan HS erythrocytes; Hct-low,insuff RBC; MCV-low, sphere RBC; T. bilirubin-up, breakdown RBC; LDH-up, hemolysis; HPV B19-pos, infect bone marrow

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