3/12 UWORLD- test # 39 Flashcards
Q 5. achondroplasia
- what gene is mutated?
- inheritance pattern?
- phenotype of heterozygous mutation? what about homozygous mutation?
- FGFR3
- autosomal dominant
- short statue/ normal head size: heterozygous
homozygous usually result in death shortly after birth
Q 2. What is best initial test for giant cell arteritis? what would be next for diagnosis?
serum inflammation marker- ESR, CRP
temporal artery biopsy- intimal thickening
- Angiography will not be useful. Angiography is more for artery obstruction- stroke
Q 3. Intracellular adhesion molecule (ICAM-1) vs. Platelet endothelial cell adhesion molecule (PECAM-1)
- where are located?
- where do they bind to?
- facilitate what step in neutrophil migration?
ICAM-1
- located in endothelium
- bind to PFA-1 (CD18) on neutrophil
- facilitate adhesion (tight binding)
PECAM-1
- endothelium
- bind to PECAM-1 on neutrophil (both neutrophil and endothelium has same one)
- diapedesis ( transmigration)
Q 4. What protein is affected in Marfan syndrome? what is function of that protein?
Fibrillin-1
- glycoprotein that forms a sheath around elastin
Q 5. bloody diarrhea, Gram negative, lactose-non permenting, H2S negative: what bug is this? What is the most important during pathogenesis?
Shigella
envasion: shigella invades through M cells (antigen presenting macrophage in the payer’s pouch), using M cells’ actin filament to migrate through intestine.
Q 9. Isotretinoin (vitamin A derivative) is teratogenic. What abnormalities can form? (4)
- microcephaly
- hydrocephalus
- small ears
- thymic hypoplasia
Q 11. What is trailing zeros? how can it cause error in prescription?
put 0 after decimal point. (ex, 2.0 instead of 2)
it may cause errors in dosage amount.
Asking physician not to do trailing zeros can reduce source of error
Q 13. cholecystokinin is released from what cells? Where are they located?
I cells, small intestine
Q 13. somatostatin is released from what cells? where are they located?
D cells, pancreatic islets
Q 13. GIP
- full name?
- function?
- what cells secret it? where are they located?
- Glucose dedependent Isulinotropic Peptide
- insuline release in response to glucose: explains difference of insulin release from oral glucose vs. IV glucose
- K cells, duodenum/jejunum
Q 15. How does biliary atresia result in color change in urine? what about stool?
dark urine- due to excessive renal excretion of bile
pale stool - due to lack of intestinal bile (bile duct is only way to get into intestine)
Q 14. carpal tunnel syndrome
- compression on what nerve
- Incision of which structure is performed during surgery?
median nerve
incision of transverse carpal ligament (flexor retinaculum) is performed to relieve pressure
Q 16. What is nulliparity? How is this associated with reproductive diseases?
no history of pregnancy
-> increased risk for endometrial/breast cancer
Q 16. Endometriosis
- what is it?
- complications (3) and physiology
- non-neoplastic growth of endometrium outside of uterine
- heavy/painful mestural bleeding: ectopic endometrium also sheds/bleeds during mens
- infertility
- retroverted uterus
2&3: ectopic endometrium shedding/bleeding-> blood trapped -> inflammation -> adhesion of urterus/ovary
-> infertility & retroverted uterus
Q 17. What is embryological origin of anterior pituitary? what about posterior pituitary?
- anterior pituitary: oral ectoderm (Rathke pouch)
- posterior pituitary: neuroectoderm
Q 18. McArdle disease is defect of what enzyme? what is its function?
glycogen phosphorylase
cut branch until 4 glucose molecules remain
Q 19. Describe how tetanus toxin migrates
contaminated soil -> wound: bacteria releasing toxin -> toxin migrates retrograde along motor neuron-> toxin reside in spinal cord and medulla
Q 20. What morphology does blastomyces look like in potassium hydroxide preparation
Blastomyces- Budding
Q 21. Apart from visual issue/ headache, what medical conditions in MEN may happen in prolactinoma? (3)
prolactin -> suppression of GnRH
- libido
- infertility
- hypoganadism
Q 25. side effect of colchicine?
GI effects (diarrhea, nausea, abdominal pain)
Q 26. RSV in kid: what does it cause? physical exam finding?
bronchiolitis & pneumonia
wheezing
Q 27. What DNA repair mechanism is messed up in Lynch syndrome?
mismatch repair
Q 28. two locations of baroreceptor
- aortic arch
- carotid sinus
Cold temperature: what is the change of
- cardiac output
- ADH
- Atrial natriuretic peptide
why? explain physiology
- CO: increase
- ADH: decrease
- ANP: increase
cold temp -> peripheral vasoconstriction -> increased blood volume in heart -> increased CO (more ventricular stretch) -> stretching pressure sensed by baroreceptors -> decrease ADH/ increase ANP to tone pressure down
Q 32. Burkitt lymphoma
- transolcation?
- what does this translocation result in? explain molecular physiology about what is going on
t (8;14)
fusion of heavy chain Ig & c-myc
high level expression of c-myc, transcription factor (oncogene)
Q 32. CML
- translocatoin?
- what does this translocation result in? explain molecular physiology about what is going on
t (9;22): philadelphia chromosome
fusion of BCR-Abl
constitutive tyrosine kinase activity -> growth
Q 36. Colon cancer may cause what anemia?
iron deficiency anemia
Q 36. How colon cancer at two different sites present differently?
- ascending colon
- rectosigmoid colon
- ascending colon
: large/ bulky -> rupture -> hemorrahge -> iron deficiency anemia - rectosigmoid colon
: small -> obstruction -> vomiting/abdominal distention
Q 37. What two factors can cause angiogenesis during scar formation?
VEGF
FGF: fibroblast growth factor
Q 38. Buerer disease
- what is another fancy term?
- most common cause
- gross appearance (2)
- histologic finding
- thromboangitis obliterans
- smoking
- gangrene, raynaud
- SEGMENTAL thrombosing vasculitis that often extend into continuous veins . & nerves
Q 39. normal language development for 3yo
3 words sentence
Q 39. normal fine motor development for 3yo
usage of utensils, copies circle
