What is the alternative CMV treatment in a BMT patient with graft failure from ganciclovir therapy?
Foscarnet
100
How do you diagnose Chronic Granulomatous Disease?
NBT (nitroblue tetrazolium test), cytochrome c reduction assay, and flow cytometry
100
eczema, immunodeficiency, thrombocytopenia, recurrent OM and sinopulmonary infections, elevated IgA and IgE
Wiskott Aldrich
100
which sphinoglipidoses presents in infancy with a marrow showing large, mononucleated histiocytes with cytoplasma containing basophilic wrinkled tissue paper?
Gaucher
100
What type of study follows 2 groups of subjects and one control group, in a situation where the exposure was not controlled by the study?
Cohort
200
What protozoan presents with encephalitis, hepatosplenomegaly, lymphadenopathy, and fever? How do you treat?
Toxoplasma gondii. Pyrimethamine + sulfadiazine
200
What is the diagnostic test for Wiskott Aldrich syndrome?
WASP
200
mucocutaneous candidiasis, chronic diarrhea, failure to thrive, viral infections result in death, all classes of Ig are low
SCID
200
What storage disease presents in infancy with hypoglycemia, poor growth, hepatomegaly, neutropenia, lactic acidosis, hyperlipidemia, and hyperuricemia?
Glycogen storage disease type 1b. You can treat the neutropenia with GMCSF
200
What type of error is the chance of wrongly rejecting the null hypothesis? In other words, it is the chance that the difference observed is based on random bad luck and does not represent a true difference.
Type I error or Alpha error or p value
300
What antifungal drug can cause visual disturbances and hallucinations?
Voriconazole
300
what gene encodes the defect responsible for Chediak Higashi syndrome?
LYST or CHS1 gene
300
presents at an older age with recurrent sinopulmonary bacterial infections, chronic enteroviral meningoencephalitis, chronic giardiasis, and arthropathy
CVID
300
What organic academia presents with sweaty feet smell, severe metabolic acidosis with ketosis, and pancytopenia?
Isovaleric acidemia
300
what type of parametric test is used when the measurements in the two sets of data come from the same subjects but were done under two different conditions - such as temperature before transfusion vs temp after transfusion in the same patient
paired t-test
400
What is the treatment of adenovirus in BMT?
Cidofivir
400
How do you diagnosis leukocyte adhesion deficiency?
Evaluation of CD11/CD18 expression
400
This complement deficiency presents like SLE
C2 deficiency
400
What organic academia presents with severe ketoacidosis, encephalopathy, LOTS of vomiting, and marrow suppression and is associated with cardiomyopathy?
Propionic acidemia
400
what type of test is used for categorical data with 2 choices for each factor?
Chi-square test
500
What antifungal is used for aspergillus that is refractory to Ampho?
Caspofungin
500
What is the gene defect associated with ataxia telangiectasia?
ATM gene
500
form of SCID with recurrent severe infections, failure to thrive, chronic severe diarrhea, erythroderma with exfoliation, anemia, hypogammaglobinemia with increased IgE
Omenn's syndrome
500
what amino acid disorder presents with failure to thrive, hepatomegaly with hepatic adenomas that progress to hepatoblastoma and liver failure?