March 18 test 1

Question 1

What is the cause of Albinism?

Answer 1

Decrease melanin production due to decreased tyrosinase activity or defective tyrosine transport–inability to synthesize melanin from tyrosine, an aromatic amino acid.

Question 2

What are the 4 major changes seen in a severe anemic pt?

Answer 2

Tachycardia
High SV
Wide pulse pressure
Cold hands

Question 3

What type of testicular tumor is associated with increased Placental alkaline phosphatase?

Answer 3

Seminoma

Question 4

Increase AFP is characteristic of what testicular tumor?

Answer 4

Yolk sac–most common testicular tumor in infancy and early childhood

Question 5

Increased hCG is characteristic for what type of testicular tumor?

Answer 5

Choriocarcinoma

Question 6

What is the cause of sickle cell anemia?

Answer 6

Point mutation in the beta gene–glutamic acid to valine

–transformation of HbA to HbS

Question 7

You should suspect what in patients with systemic complaints (fatigue, malaise, sweating, weight loss), early satiety, hepatosplenomegaly, and an elevated white blood cell count with predominant mature and immature neutrophil cell lines.

Answer 7

chronic myelogenous leukemia (CML)

Question 8

What translocation is seen with Chronic myelogenous leukemia (CML)?

Answer 8

t(9;22) Ph chromosome BCR-ABL fusion

Question 9

What is used to screen for osteoblastic bony metastases in prostate cancer.

Answer 9

Serum alkaline phosphatase

Question 10

What disease is associated with mutations in the mismatch repair genes?

Answer 10

Lynch syndrome–hereditary nonpolyposis colorectal cancer

–increased risk for colorectal cancer and endometrial cancer within family

Question 11

When does the volume of the ICF change?

Answer 11

ONLY changes when the osmolarity of the ECF changes

–always use ECF change to determine ICF change

Question 12

With respect to haptoglobin and bilirubin, how does acute intravascular hemolysis present?

Answer 12

Decreased haptoglobin due to increased hb in circulation from lysed RBCs

Increased indirect (unconjugated) bilirubin due to liver not being able to keep up with conjugation of the added bilirubin

Question 13

Subependymal giant cell astrocytoma is pathognomonic for?

Answer 13

tuberous sclerosis

• HAMARTOMAS
• -Hamartomas in CNS and skin
• -Angiofibromas
• -Mitral regurgitation
• -Ash-leaf spots
• -cardiac Rhabdomyoma
• -Tuberous sclerosis
• -autosomal dOminant
• -Mental retardation
• -renal Angiomyolipoma
• -Seizures/Shagreen patches

Tumor that grows from the walls of the lateral ventricles

Question 14

Metastasis of testicular cancer will first occur through what lymph nodes?

Answer 14

Para-aortic nodes

Question 15

What translocation occur with follicular lymphoma?

Answer 15

t(14;18)–transolcation of heavy-chain Ig and BCL-2

Question 16

What is seen on histo of basal cell carcinoma?

Answer 16

Palisading nuclei