things i can't remember

Question 1

MC urea cycle disorder

Answer 1

Ornithine Transcarbamylase deficiency

Question 2

Ornithine Transcarbamylase Deficiency?

Answer 2

Excess carbamoyl phosphate is converted to orotic acid

Question 3

Increased Orotic Acid, decreased BUN and (should have increased NH3)

Answer 3

Ornithine Transcarbamylase Deficiency

Question 4

Required cofactor for carbamyl phosphate synthetase 1

Answer 4

N-acetylglutamate

Question 5

Neanote with poorly regulated respiration and body temperature, and poor feeding. Will have developmental delay and intellectual. Will have hyperammonia.

Answer 5

N-acetylgluamate synthase deficiency

Question 6

Argine to Ornithine via Arginase releases

Answer 6

Urea

Question 7

PKU - why you ain’t got no tyrosine

Answer 7

Phenylalanine Hydroxylase deficiency or decreased Tetrahydrobopterin

Question 8

Maple Syrup Urine Disease

Answer 8

no branched alpha keto acid dehyrogenase

Question 9

Can’t degrade branched chain AA

Answer 9

Maple Syrup Urine Disease

Question 10

Substitution that codes for the same AA. Or base exchange for 3rd position (wobble)

Answer 10

Silent Mutaton

Question 11

Substitution that results in a changed AA

Answer 11

Missense (Ex - Sickle Cell)

Question 12

Substitution causing coding for a stop codon. (results in nonfunctional protein)

Answer 12

Nonsense

Question 13

Deletion or insertion of a number of nucleotides not divisible by 3. REsults in misreading of all nucleotides down stream

Answer 13

Frameshift (Ex. Duchenne’s and Tay-Sachs)

Question 14

High pitched “blowing murmur” Systolic

Answer 14

M/T Regurge

Question 15

Late systolic crescendo w/ midsystolic clic

Answer 15

MVP (Myxomatous degeneration, Marfan, or Ehlers)

Question 16

Holosystolic, Harsh

Answer 16

VSD

Question 17

High pitched “blowing” diastolic

Answer 17

Aortic Regurge

Question 18

Follows opening snap. Delayed rumble. Late diastolic .

Answer 18

Mitral Stenosis

Question 19

Why is there a snap in Mitral Stenosis?

Answer 19

Due to abrupt halt in leaflet motion in diastole, after rapid opening due to fusion at leaflet tips.

Question 20

Envelope or Dumbbell Shaped

Answer 20

Ca Oxalate (Hypocitraturia)

Question 21

Wedge-Shaped

Answer 21

Ca Phosphate (increased pH)

Question 22

Coffin

Answer 22

Ammonium Mg Phosphate (Struvite)

Question 23

Rhomboid/ Rosettes

Answer 23

Uric Acid

Question 24

Hexagonal

Answer 24

Cysteine (COLA)

Question 25

Where does RCC originate?

Answer 25

PCT

Question 26

How does RCC spread?

Answer 26

Hematogenously - Renal Vein to IVC, metastasizes to Lung and Bone

Question 27

What is RCC associated with?

Answer 27

VHL = Chromosome 3; Pheo, and Hemangioblastoma

Question 28

RCC paraneoplastic syndromes

Answer 28

EPO, ACTH, PTHrP, Renin

Question 29

Benign epithelial cell tumor arisin gform collecting ducts

Answer 29

Renal Oncocytoma

Question 30

MC renal malignancy in Kids (2-4)

Answer 30

Wilm's

Question 31

Wilm's WAGR?

Answer 31

Wilms, Aniridia, Genitourinary Malformations, Retardation

Question 32

WT1 mutation

Answer 32

Denys Drash - Early onset, nephrotic, male pseudohermaphroditism

Question 33

WT2 mutation

Answer 33

Beckwith Wiedemann - Wide stuff (macroglossia, hemihypertrophy, organomegaly)

Question 34

Painless Hematuria and No Casts?

Answer 34

Transitional Cell Carcinoma of the Bladder

Question 35

What is Mesna used for?

Answer 35

To prevent hemorrhagic cystitis (with cyclophosphamide)

Question 36

Urinary leak with increased intra-abdominal pressure?

Answer 36

Stress incontinence. Means you've got an outlet incompetent issue. Tx with Kegals

Question 37

Urinary leak with urge to void immediately?

Answer 37

Urge incontinence. Overactive bladder (detrusser instability). Tx Kegal and antimuscarinics (Oxybutynin)

Question 38

Only pee a little bit, and always feel like you have to go?

Answer 38

Overflow incontinence. Incomplete emptying (detrusor underactivity or outlet obstruction. Tx Cath, fix obstruction, or alpha blockers (BPH)

Question 39

Orotic Aciduria

Answer 39

Can't convert orotic acid to UMP

Question 40

Deficient in UMP synthase

Answer 40

Orotic Aciduria (AR)

Question 41

Megaloblastic anemia refractory to Folate and B12, no hyperammonemia.

Answer 41

Orotic Aciduria (tx: Uridine Monophosphate)