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