Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

STEP 1 Biochem > things i can't remember > Flashcards

things i can't remember Flashcards

1
Q

MC urea cycle disorder

A

Ornithine Transcarbamylase deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Ornithine Transcarbamylase Deficiency?

A

Excess carbamoyl phosphate is converted to orotic acid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

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

A

Ornithine Transcarbamylase Deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Required cofactor for carbamyl phosphate synthetase 1

A

N-acetylglutamate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

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

A

N-acetylgluamate synthase deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Argine to Ornithine via Arginase releases

A

Urea

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

PKU - why you ain’t got no tyrosine

A

Phenylalanine Hydroxylase deficiency or decreased Tetrahydrobopterin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Maple Syrup Urine Disease

A

no branched alpha keto acid dehyrogenase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Can’t degrade branched chain AA

A

Maple Syrup Urine Disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

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

A

Silent Mutaton

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Substitution that results in a changed AA

A

Missense (Ex - Sickle Cell)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

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

A

Nonsense

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

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

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

High pitched “blowing murmur” Systolic

A

M/T Regurge

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Late systolic crescendo w/ midsystolic clic

A

MVP (Myxomatous degeneration, Marfan, or Ehlers)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Holosystolic, Harsh

A

VSD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

High pitched “blowing” diastolic

A

Aortic Regurge

18
Q

Follows opening snap. Delayed rumble. Late diastolic .

A

Mitral Stenosis

19
Q

Why is there a snap in Mitral Stenosis?

A

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

20
Q

Envelope or Dumbbell Shaped

A

Ca Oxalate (Hypocitraturia)

21
Q

Wedge-Shaped

A

Ca Phosphate (increased pH)

22
Q

Coffin

A

Ammonium Mg Phosphate (Struvite)

23
Q

Rhomboid/ Rosettes

A

Uric Acid

24
Q

Hexagonal

A

Cysteine (COLA)

25
Q

Where does RCC originate?

A

PCT

26
Q

How does RCC spread?

A

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

27
Q

What is RCC associated with?

A

VHL = Chromosome 3; Pheo, and Hemangioblastoma

28
Q

RCC paraneoplastic syndromes

A

EPO, ACTH, PTHrP, Renin

29
Q

Benign epithelial cell tumor arisin gform collecting ducts

A

Renal Oncocytoma

30
Q

MC renal malignancy in Kids (2-4)

A

Wilm’s

31
Q

Wilm’s WAGR?

A

Wilms, Aniridia, Genitourinary Malformations, Retardation

32
Q

WT1 mutation

A

Denys Drash - Early onset, nephrotic, male pseudohermaphroditism

33
Q

WT2 mutation

A

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

34
Q

Painless Hematuria and No Casts?

A

Transitional Cell Carcinoma of the Bladder

35
Q

What is Mesna used for?

A

To prevent hemorrhagic cystitis (with cyclophosphamide)

36
Q

Urinary leak with increased intra-abdominal pressure?

A

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

37
Q

Urinary leak with urge to void immediately?

A

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

38
Q

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

A

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

39
Q

Orotic Aciduria

A

Can’t convert orotic acid to UMP

40
Q

Deficient in UMP synthase

A

Orotic Aciduria (AR)

41
Q

Megaloblastic anemia refractory to Folate and B12, no hyperammonemia.

A

Orotic Aciduria (tx: Uridine Monophosphate)

STEP 1 Biochem (5 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions