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70 Cards in this Set
- Front
- Back
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what is hemopexin
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heme binding protein (has the highest heme binding affinity) that transports heme to the liver
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when are hemopexin and haptoglobin depleted?
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in the face of massive hemolysis, they bind to heme faster than they can be produced (and are therefore not detectable in the blood)
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How does the adminsitration of methylene blue distiguish cause of methemoglobinemia
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methemoglobinemia will not correct when the cause if hemoglobin M disease
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symptoms of cytochrome b5 reductase deficiency
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MR, FTT, +/- seizures, neurologic problems, most die infancy
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treatment for methemoglobinemia
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methylene blue
ascorbic acid |
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what is the mutation in hemoglobin M?
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tyrosine substitute for histadine
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what are dohle bodies
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blue staining reminent RER aggreagates found in the cytoplasm of granulocytes
seen in May Hegglin anomaly |
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inheritance of may hegglin
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AD
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pathophys of may hegglin
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mutation of the MYH9 gene present on chromosome 22q12-13,
results in disordered production of nonmuscle myosin heavy chains type IIA. |
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half life of random donor platelets
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3 days
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mode of inheritence of congenital dyserythropoietic anemia
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I - AR
II- AR III - AD |
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radiographic finding in CDA III
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hair on end appearance on skull radiograph
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which CDA has in increased incidence of lymphoproliferative disorders
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III
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red cell size in CDA
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macrocytic - can be normal in II
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Ham test in CDA
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I - negative
II - positive III - negative |
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anti- I agglutinability in CDA
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I- normal
II - strong III - normal |
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what is the HAM test
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lysis of RBCs in acidified samples
(looks for fragility of RBCs in mild acid environment) |
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what differentiates PNH from CDA when the HAM test is positive?
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clinical picture
sugar water hemolysis test: positive in PNH (cells lyse in a low salt sucrose solution), CDA: negative sucrose |
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what is the effect of polycythemia on PTT?
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can falsely elevate PTT b/c there is an insufficient amount of citrate in the test tube.
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what is prolonged bleeding from the umbilical stump usually due to?
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factor 13 deficiency
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test for factor 13 deficiency?
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euglobulin lysis test (ELT)
tests for PLASMIN activity (measure of fibrinolysis) without factor 13 you can make aclot but it is an unstable clot. |
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will PT/PTT be abnormal in factor 13 deficiency?
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no
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subacute side effect of mediastinal radiation
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radiation pneumonitis
presents with cough and dyspnea bilateral parahilar infiltrates |
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treatment of radiation pneumonitis
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steroids
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timeframe of radiation pneumonitis
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few weeks to months
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result of ATIII deficiency
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hypercoaguable
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why hypercoaguable in nephrotic syndrome
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preferential loss of ATIII
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mechanism of action for tranexamic acid
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inhibitor of plasminogen activation
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diagnosis with nearly absent IgG
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SCID
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what is the clinical manifestation of Hemoglobin Chesapeake?
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mild POLYCYTHEMIA
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what does hemoglobin lepore act like
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beta thalessemia
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what is the pathophysiology of hgb lepore?
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it is a beta/delta fusion gene b/c it is under the regulation of delta globin regulation it is produced at low levels
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what is the binding affinity of hemoglobin zurich for carbon monxide?
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very high, the hemoglobin is stabilized by carbon monoxide
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hereditary pyropokilocytosis
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congenital hemolytic anemia
spectrin chain defect increased ratio of cholesterol to membrane protein |
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what is the effect on engraftment of t cell depleted BMT
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decreased engraftment
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when is amicar contraindicated
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hematuria
liver disease DIC |
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how will factor 8 levels differ in severe DIC vs. advanced hepatocellular carcinoma
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factor 8 will be low in DIC not in advanced hepatocellular carcinoma as factor 8 is made in sites other than the liver
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imaging study for follow-up of synovial cell sarcoma
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MRI
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what lab abnormality does IIbIIIa deficiency cause
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prolonged bleeding time
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pernicious anemia
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absence of intrinsic factor
can be due to gastric atrophy can be due to autoimmunity against intrinsic factor and can be associated with hypothyroidism |
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risk of RB to offspring of mom with bilateral RB and normal dad
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40%
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what underlying diagnosis makes a bili of 24 in a neonate more concerning for kernicterus
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hereditary spherocytosis
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what is the MCV in diamond blackfan
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increased
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what does activated protein c do ?
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inactivates factor 5a
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is candidiasis seen in SCID orCGD
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SCID
catalase positive bacterial infections seen in CGD |
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6 day old with DIC, purpura fulminans could have...
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homozygous protein S deficiency
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which renal tumor has the worst prognosis
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rhabdoid
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at what inhibitor level do you switch from giving factor 8 to giving something else
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> 10 bethesda units
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treatment for CGD with aspergillosis
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ampho B plus gamma interferon
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liver tumor with best prognosis
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fetal hepatoblastoma
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3 day old male with eccymosis bleeding umbilical cord normal platelets, prolonged PT, PTT
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afibrinogenemia
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what type of testing is used for evaluating DR in HLA typing
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oligonucleatide
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12 yo with blurred right vision, partially detached retina, hgb 12, TARGET cells
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hgb sc
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what morphologic finding differentiates hgb beta thal/hgb E from homozygous HGB E
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Homozygous HGb E has target cells
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what does isopropanol precipitation test test for
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unstable hemoglobin
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hemoglobin zurich and isopropanol test
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postive test
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what type of hemolytic anemia is associated with hemoglobin zurich
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oxidant induced
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how is protein c activated
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endothelial surface thrombin - thrombomodulin interaction
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what is the cause of death in hermansky pudlak syndrome
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pulmonary fibrosis
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what is the quebec platelet disorder? (factor V Quebec)
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AD inheritance
mild thrombocytopenia increased megas defective EPINEPHRINE induced platelet aggregation decreased concentration of granule proteins |
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what does the MYH9 gene code for
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non-muscle myosin heavy chain IIA
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gene mutation in wilms aniridia
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11p13
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difference in location for embryonal vs alveolar RMS
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embryonal: head and neck, orbit, GU
Alveolar: extremities, trunk |
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cell variant of paratesticular RMS
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spindle cell
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location of botyroid variant of RMS
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bladder, vagina, nasopharynx, bile duct
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what is the mutation in constant spring
what type of hemoglobin is elevated |
point mutation in alpha globin - doesn't get made
Hgb H (beta tetramer) |
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where does thrombin to thrombomodulin take place
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endothelial cell
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"infectious" complication of IVIG
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aseptic meningitis
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what is Chuvash polycythemia
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AR inheritance mutation of von-Hippel Lindau gene
causing increased production of erythropoietin |
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what are the oncologic complications ofvon Hippel Landau syndrome
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hemangioblastomas
pheochromocytoma renal cell carcinoma |
