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32 Cards in this Set

  • Front
  • Back
What organs are affected in hemochromatosis?
liver, heart, pancreas, skin (bronze diabetes)
What neurological sx are seen in Wilson's disease?
psychosis, dementia

Parkinsonism, hemiballismus

incoordination
What is the most significant risk factor for intussusception?
adenovirus infection
This disease is due to lack of development of Auerbach's and Meissner's plexuses in focal regions of the colon.
Hirschprung's Disease
What kind of arthritis: wearing of articular cartilage; bone rubs on bone
osteoarthritis
What kind of arthritis: synovial membrane proliferation with pannus formation
rheumatoid arthritis
What kind of arthritis: palpable osteophytes at interphalangeal joints
osteoarthritis
What is Felty's syndrome?
polyarticular RA +
splenomegaly +
neutropenia
What is the gene mutation in achondroplasia?
mutation in fibroblast growth factor receptor gene
How does estrogen affect bone formation?
inhibits osteoclasts

enhances osteoblasts
What is the term for inadequate bone mineralization?
osteomalacia
What is the DOC for prevention of osteoporosis and for tx of diagnosed osteoporois?
bisphosphanates
Paget's disease of bone can results in what physical findings?
frontal bossing
deafness
bony pain & pain with nerve compression
vertebral compression fractures
chalkstick fractures
high output cardiac failure
What is an osteochondroma?
a benign tumor containing both bone and cartilage with a cartilaginous cap
This painful benign bone tumor occurs especially i the extremities of teens and young adults.
osteoid osteoma
This malignant bone tumor causes a periosteal reaction that produces layer upon layer of reactive bone. (onion skinning)
Ewing's Sarcoma
What causes the pseudo-hypertrophies calves in Duchenne Muscular dystrophy?
d/t fibrosis adn infiltration of muscle tissue by fatty tissue
What is the trinucleotide repeat associated with myotonic muscular dystrophy?
CTG

autosomal dominant dz

MC adult muscular dystrophy
This neural tube derived brain tumor has hihgly anaplastic cells with increased nuclear density line up along the adges of necrotic regions (pseudopalisading).
glioblastoma multiforme
What is the location of an ependymoma that presents in adulthood and childhood?
kids: 4th ventricle

adults: cauda equina; spinal cord
This brain tumor can cause tinnitus and other hearing sx by impinging on the 8th cranial nerve at the cerebellopontine angle.
Schwannoma
What brain tumor is serived from vestigial remnants of Rathke's pouch?
craniopharyngioma
How does a prolactinoma result in secondary amenorrhea?
prolactin inhibits GnRH which causes lower levels of FSH and LH
What CNS tumor is associated with von Hippel-Lindau disease?
hemangioblastoma
This CNS degenerative dz is associated with diffuse significant cortical atrophy.
Alzheimer's
What are senile plaques?
silateed, tortuous neuritic processes containing amyloid beta protein in spheres

found in Alzheimer's dz
What is usually the first sign of Parkinson's dz?
loss of or diminished sense of smell
What is ALS?
degneration of upper and lower motor neurons (corticospinal tracts and anterior horn cells)
What trinucleotide repeat is associated with Huntington's dz?
CAG
Friedrich's atazia involves chromosome 9 with a trinucleotide repeat of GAA leading to a deficiency in what?
frataxin
What is the 2nd most common form of dementia?
multi-infarct dementia
What is Werdnig-Hoffman syndrome?
LMN dz in children