3/17/16

Question 1

What does CREST in crest syndrome stand for?

Answer 1

C-Calcinosis (skin nodules formed by the deposition of calcium salts)
R- Raynaud phenomenon
E- Esophageal dysfunction
S- Sclerodactly (thickening of the skin of the fingers or toes)
T- Telangiectasias

Question 2

AIP (acute intermittent porphyria) enzyme deficiency

Answer 2

Uroporphyrinogen I synthetase (porphobilinogen deaminase)
Porphobilinogen accumulates
(Question with girl on extreme diet causing AIP attack decrease intake of amino acids to build enzyme)

Question 3

Porphyria Cutanea tarda enzyme deficiency

Answer 3

Uroporphyrinogen decarboxylase

Question 4

Cystinuria (defect in tubular amino acid transporter in the kidneys)

COLA transporter

Answer 4

• Cystine, ornithine, lysine and arginine transport commonly impaired
• Cystine stones
• AR

Question 5

Homocystinuria enzyme deficiency

Answer 5

• Cystathionine synthase
• Homocysteine in urine
• Retardation and osteoporosis

Question 6

Recurrent and relapsing spiking fevers accompanied by polyarticular joint pain and an evanescent macular, salmon-pink rash (anywhere on body)

Answer 6

JIA

In adults is called Still disease

Question 7

JIA Tx:

Answer 7

NSAIDS, corticosteroids, methotrexate, IV immune globulin

ETANERCEPT (inhibitor of tumor necrosis factor)

Question 8

Familial Mediterranean fever inheritance

Answer 8

Autosomal Recessive
Dysfunction of neutrophils
Episodes of fever and acute serosal inflammation
Can mimic apendicitis, arthritis or MI
secondary amyloidosis

Question 9

Ranke Complex

Answer 9

Evolution of a Ghon complex with radiographic calcification of the nodule

Question 10

Incomplete fusion of _________ ____________ leads to a bicornuate uterus.

Answer 10

Paramesonephric ducts

Question 11

Mesonephric (wolffian) ducts in the presence of mullerian-inhibiting substance and testosterone develop into what?

Answer 11

SEED
S-seminal vesicles
E- Epididymis
E- Ejaculatory duct
D- Ductus deferens

Question 12

In females, remnant of Mesonephric duct

Answer 12

Gartner duct

Question 13

Fracture of the hamate…what nerve can be involved?

Answer 13

Ulnar

Question 14

Old Man Rivers falls on outstretched hand (forced dorsiflexion). X-ray shows posterior displacement of the distal part of radius (dinner fork). What is this called?

Answer 14

Colles fracture (complete transverse fracture of the distal radius)

Question 15

The ________ ________ fuse to form a single uterus, cervix, and superior third of the vagina.

Answer 15

Paramesonephric ducts

Question 16

An autosomal recessive syndrome that results in the failure to express CD18
LAD (leukocyte adhesion deficiency)

Answer 16

-Present with delayed separation of umbilical cord stump and omphalitis

Question 17

When in meiosis do nondisjunctions of homologous chromosomes occur?

Answer 17

Anaphase I or II (ex. Down syndrome)

Question 18

Medications that cause hemolytic anemia in G6PD patients

Answer 18

“PAINS”
(Oxidizing drugs):
Primaquine, Aspirin and NSAIDs, Ibuprofen, Nitrofurantoin, and Sulfonamides

Question 19

Mutation in CF

Answer 19

Three-nucleotide deletion of codon 508 of CFTR gene on chromosome 7 that codes for phenylalanine

Question 20

DMD mutation that can often lead to a premature stop codon

Answer 20

Frameshift mutation (insertion or deletion of codon/s NOT a multiple of 3)

Question 21

BMD mutation is often what kind of mutation (making it less severe)

Answer 21

In-frame (nonframeshift) deletion → allows for production of dystrophin that retains some function

Question 22

Bruton’s agammaglobulinemia (XR)

Answer 22

Defect in BTK tyrosine kinase gene associated with B lymphocyte differentiation
Recurrent bacterial infection after 6 months of age

Question 23

Bruton’s agammaglobulinemia (XR) Tx

Answer 23

IV immunoglobulin

Question 24

Wiskott-Aldrich Syndrome (x-linked) tetrad:

Answer 24

Eczema
Thrombocytopenia→bloody diarrhea
Immune deficiency
Low IgM and HIGH IgA and IgE

Question 25

RARE ADR of the “Triptans” which are agonist of 5HT 1B/1D receptor

Answer 25

Coronary vasoconstriction 
(Use w/ caution in CAD patient)

Question 26

Leukotriene receptor blocker used for maintenance in setting of chronic asthma

Answer 26

Zafirlukast

Question 27

5-lipoxygenase-pathway inhibitor that blocks the conversion of AA into the potent bronchoconstrictors called leukotrienes

Answer 27

Zileuton

Question 28

Ewing’s sarcoma translocation

Answer 28

Small anaplastic blue cells with a t(11;22) translocation

Question 29

INH ADR that can be prevented or reversed with vitamin B6

Answer 29

Peripheral neuropathy

Question 30

H1, V1, M1 are what coupled receptors?

Answer 30

Gq

Question 31

Psittacosis

Answer 31

Atypical pneumonia spread by Chlamydophila psittaci (obligate intracellular organism with a cell wall)
REPORT to health agency
10-day course of doxycycline or tetracycline
Think pet storeowner/employee or bird owner

Question 32

Humoral immunity is most important for destroying extracellular pathogens, whereas cell-mediated is key to destroying…

Answer 32

Intracellular organisms (Listeria and AIDS question)

Question 33

Heme metabolism consists of oxidation to biliverdin followed by reduction to bilirubin, which then binds albumin en route to liver. Drugs that bind albumin can…

Answer 33

Displace bilirubin with adverse effects on the fetus including kernicterus