5.18 Qbank

Front 1

1. What are the characteristics of Sturge-Weber disease?

2. What is the difference between dominant L and dominant R heart circulation?

3. Diagnose: child has urine that turns black on standing? Disease name and whats the problem?

Back 1

1. Seizures, Port-wine, leptomeningeal angiomas

2. Dominant R: Posterior Descending (PD) comes off of RCA (80%), Dominant L: PD comes of CFX

3. Ochronosis: can't degrade tyrosine (HOMOGENTISIC ACID OXIDASE DEFICIENCY)

Front 2

1. Compare the neuromas seen in NF1 and NF2?

2. What diseases are associated with HLA-B27? (4)

3. Where EXACTLY do the 30S and 50S ribosomal antibiotics do their work? (Linezolid,

Back 2

1. NF1: neurofibromas, NF2: acoustic neuromas

2. PAIR: Psoriasis, Anyklosing, IBD, Reiter's

3. Lin: prevent association of 30/50, AG/Tets: blocks tRNA at the A-site, Chloramphenicol: blocks peptidyl transferase, Clinda/Macro/Linco: blocks translocation

Front 3

1. What is uniparental disomy?

2. Most cases of Toxoplasmosis are acquired when in relation to diagnosis?

3. Describe the most common cardiac defect with Fragile X disease?

Back 3

1. child gets 2 copies of one chromosome from the same parent; seen in Angelmans

2. Acquired during youth and stays dormant until immunocompromised

3. Mitral Prolapse

Front 4

1. Other than problems with imprinting, what is another way Angelman can be acquired?

2. What are the two stages where an ovum "freezes" during Meiosis and what is the impetus to "unfreeze"?

3. Which crystals cause psuedogout?

Back 4

1. uniparental disomy

2. BIRTH: frozen at prophase I (continues at ovulation), BEFORE FERTILIZATION: Frozen in Metaphase II (continues at fertilization)

3. calcium pyrophoshate

Front 5

1. What is "inappropriate laugher, ataxia, and seizures" associated with

2. What type of contraction occurs with cholera: hypotonic, isotonic, hypertonic?

3. SCID can be caused by an ADA deficiency, but what is the more common reason for this disease?

Back 5

1. Angelman syndrome

2. Isotonic: diarrhea is same osmolarity as ICF

3. IL-2 receptor defect

Front 6

1. Describe a liver biopsy in a child w/ Reye's syndrome?

2. 2 Muscles controlled by CNXI?

Back 6

1. microvesicular steatosis

2. SCM, Trapezius

Front 7

1. Which linkage is a branching point and which is just the next glucose in a glycogen molecule: α1,6 or α1,4

Back 7

1. α1,6: branch α1,4 linkage

Front 8

1. Draw the glycogen synthesis/breakdown pathways with appropriate enzymes? Mark the glyocogen storage disease problems also.

Back 8

1. SEE SHEET