USMLE Step 1
USMLE Step 1 QUESTION of the DAY!
Cystic Fibrosis is the most common lethal genetic disease in Caucasians. The autosomal recessive mutation occurs on:
A) chromosome 4
B) chromosome 7
C) chromosome 13
D) chromosome 18
E) chromosome 21
(scroll for answer)
Answer: B) chromosome 7. CF mutation occurs on chromosome 7, the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Characteristics of CF include chronic pulmonary disease, pancreatic insufficiency, and meconium ileus in the newborn. Symptomatic tx and gene therapy are current therapies.
Board hint: mother kisses baby on cheek and sweat tastes salty.
USMLE Step 1 D.O.C. of the DAY!
Drug of choice for
Neisseria gonorrhea
(scroll for answer)
Ceftriaxone
FACT of the DAY!
Bowen Disease
Males: single red plaque on the scrotum or shaft with ulceration and crusting
Females: single red-brown plaque on the vulva. May present as leukoplakia.
-cells appear neoplastic with increased nuclear to cytoplasmic ratio and increased mitotic activity.
-increased risk for invasive carcinoma for years.