Stop Missing these things Flashcards

1
Q

the mutated gene responsible for polycythemia vera

A

JAK2

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2
Q

gain-of-function (activating) mutation in the JAK2 gene, which encodes for the oncogenic nonreceptor tyrosine kinase JAK2.

A

polycythemia vera (PV) ,
This JAK2V617F mutation causes an EPO-independent proliferation of the myeloid cell lines that leads to pancytosis. Associated symptoms include hyperviscosity syndrome (mucosal bleeding, neurological symptoms, and visual changes), thrombotic events (e.g, deep vein thrombosis), cyanotic lips, hypertension, and splenomegaly

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3
Q

How do we differentiate AML from ALL?

A

Acute Myeloif Leukemia-> stains positive for myeloperoxidase
ALL-> neagtive

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4
Q

t(15;17) translocation indicates

A

AML

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5
Q

Auer rods

A

characteristic feature of AML, particularly associated with acute promyelocytic leukemia

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6
Q

can be treated with vitamin A derivates such as ATRA (all-trans-retinoic acid

A

Acute promyelocytic leukemia

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7
Q

Periodic acid-Schiff (PAS) staining

A

stains polysaccarides, ALL erythroid precursor cells stain postive, stains for whipple disease tropheryma whippeli

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8
Q

Cluster of differentiation 1a

A

Langerhans cells that mediates the presentation of antigens to T cells. Unregulated proliferation of Langerhans cells leads to Langerhans cell histiocytosis

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9
Q

Terminal deoxynucleotidyl transferase (TdT) is a marker for

A

confirms lympoid lineage

immature lymphocytes, confirms that the cells are of lymphoid lineage and thus differentiates acute lymphoblastic leukemia (ALL) from AML

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10
Q

confirms lymphoid lineage

A

TdT

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11
Q

Confrims myeloid lineage

A

myeloperoxidase

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12
Q

Bleeding dysfunction in HUS

A

increased bleeding time with normal PT and PTT, platelets fucked

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13
Q

Effect of PTH on Phosphorus

A

It decreases resorption so it decreases serum content

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14
Q

Tetrallogy in tetrallogy of fallot

A

right ventricular outflow obstruction due to pulmonary stenosis, right ventricular hypertrophy, a ventricular septal defect (VSD), and an overriding aorta (above the VSD).

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15
Q

Dermal accumulation of glycosaminoglycans

A

myedema

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16
Q

Can be difficult to diagnose because of its variable presentation. Early manifestations include weight loss and migratory, nondeforming arthritis. Late manifestations include chronic malabsorptive diarrhea. Low-grade fever, lymphadenopathy, and cardiac and neurologic manifestations are also characteristic.

A

Whipple disease, An infectious disease caused by the bacterium Tropheryma whipplei. intracellular gram positive bacillus