MSK Flashcards
Name this disease:
baby presents with agenesis of the sacrum and lumbar spine, dorsiflexed contractures of the few, and urinary incontinence. The mother of this baby had poorly controlled maternal diabetes
Caudal Regression Syndrome
iron deficiency anemia can do what to baby in utero
restrict fetal growth
treatment for Cretinism
levothyroxine (by 2 weeks of age)
why does cretinism present with mental retardation
because T4 is deficient and it is needed for normal brain development
Name disease:
- light pigment
- mousy odor
- developmental delay
Phenoketonuria
sensitivity
probability of a diseased person testing positive
specificity
the probability of a healthy person testing negative
positive predictive value
the probability that disease is present given a positive result
negative predictive value
the probability that disease is absent given a negative result
how do osteocytes help to regulate bone remodeling
because they can sense stress and they send signals to the osteoblasts to modulate them
what are known to be essential to spliceosomes and remove introns from preMRNA to form mature MRNA
snRNP (small ribonucleoproteins) SLE!
patients with myasthenia graves are sometimes found to have what else?
thymoma
thymoma shares embryological origin with?
inferior parathyroid gland
what pharyngeal pouch does the thymus develop from
3rd
what is alkaptonuria caused by
a deficiency of Homogentisic Acid Dioxygenase
accumulate homogentisic acid causes what?
pigment deposits in connective tissue in the body