Test 23

Question 1

• Celiac dz typical presentation and age
• 3 changes in celiac dz duodenal histology
• Serology

Answer 1

• presents with abd pain, wt loss, diarrhea, and vomiting at age 6-24 months
• Changes: Villous atrophy, crypt hyperplasia, intraepithelial lymphocyte prolif
• IgA Anti-endomysial Ab & Anti-ttg Ab

Question 2

-Carbon tetrachloride damage mediated by what process

Answer 2

-CCl4 converted to CCl3 free radical via Cyp450

Question 3

• Permeability of nephron to water

- Where does urine get concentrated

Answer 3

• PCT and descending loop = permeable
• Ascending loop and early DCT = impermeable
• Late DCT and CD = variable
• urine concentrated in descending loop and CD if ADH present

Question 4

• Cori dz presentation
• 3 general clin ft
• 2 distinguishing fts from other glycogen storage dz’s
• 1 histo ft

Answer 4

• infancy or childhood with liver and muscle involvement
• Hypoglycemia, hepatomegaly, ketoacidosis
• muscle weakness and hypotonia
• cytosolic glycogen with short outer strands (limit dex)

Question 5

• Rett syndrome presentation
• 3 clin features
• genetic defect

Answer 5

• Normal GIRL until 6-18 months, starts regressing
• hand movements, regression in speech and motor, head size growth deceleration
• de novo X-linked MECP2 mutation

Question 6

Disability benefits

Answer 6

Always perform thorough physical assessment

Question 7

• 2 Criteria for MDD

- Natural bereavement length

Answer 7

• Greater than or equal to two weeks, Greater than or equal to five out of nine symptoms
• 6 to 12 months without pervasive anhedonia, worthlessness, and suicidality

Question 8

• Scabies presentation
• transmission
• 3 presentation in IC
• 2 Tx
• 2 Diffs

Answer 8

• Any age intensely pruritic rash UE, axilla, genitalia. (caused by rxn to feces and eggs). may see burrows.
• Transmission from skin to skin or from fomites
• bigger load, mild pruritis, many erythematous patches with Scaling and Crusting.
• Topical permethrin (impairs voltage gated Na channels) and Oral Ivermectin for IC pt.
  1. dermatophytes: fungal spores &/or hyphae on histo, tx with terbinafine
  2. psoriasis: histo shows hyperkeratosis & epidermal hyperplasia, tx with glucocorticoids.

Question 9

• BH4 is a cofactor for production of what 3 required molecules in the body
• Decreased BH4 levels pathophys
• Clin pres
• 1 diff

Answer 9

• Tyrosine, dopamine, serotonin
• dihydrobiopterin reductase deficiency (cant convert BH2 to BH4)
• Intellectual disability early in life, serotonin deficiency, hyperphenylalanemia
  1. Pheylalanine hydroxylase deficiency: phenylketunira

Question 10

Reliability of using urine and serum creatinine concentrations to estimate GFR

Answer 10

-Overestimates GFR by 10-20% because of minor amount of active creatinine secretion in the PCT

Question 11

Role of suspensory ligament of the ovary
Another name for ligament
what structures does it contain

Answer 11

• Suspends ovary from the lateral side
• infundibulopelvic ligament
• contains ovarian A, V, N, and Lymphatics.

Question 12

X-linked hypogammaglobulinemia presentation
Pathophys
1 Diff

Answer 12

• Child recurrent sinopulmonary infxns (pneumo), diarrhea (giardia), failure to thrive.
• Mutated BTK -> B-cells cant mature and leave marrow -> pan-hypogammaglobulinemia
  1. SCID: present as baby, failure to thrive, and infection with more opportunistic infxns (low CD4 and CD8)

Question 13

4 Tertiary amine cholinesterase inhibitors & advantage

3 Quaternary amine cholinesterase inhibitors

Answer 13

• Physostigmine, galantamine, rivastigmine, donepezil. Cross the blood brain barrier for CNS symptoms
• Neostigmine, pyridostigmine, edrophonium