SIM2 Flashcards
(34 cards)
Peutz Jeghers
AD mut in serine/threonine kinase (chr 19)
Pigmented macules on lips and mouth
Hamartomatous polyps
Liposarcoma
tumor of lipoblasts
nuclear indentations with scalloping of nuclear membrane
Surfactant
type 2 pneumocytes
Premature infants and maternal diabetes
Horner syndrome
miosis, ptosis, anhidrosis
due to apical carcinoma (pancost tumor) via compression of superior cervical ganglion
alcoholic cerebellar degeneration
chronic nutrition deficiency and direct alcohol neurotoxicity
loss of purkinje cells of vermis
wide based ataxia and truncal instability
Tremor of fingers and diplopia can also be observed
Meckel diverticulum
non obliterated vetelline duct
Px: painless, brisk GI bleed
may see heterotopic gastric or pancreatic mucosa
cs: volvulus, intussusception, obstruction
HCM
AD
sudden death of adolescents and young adults
Mutation in beta-myosin heavy chain
Murmur: systolic crescendo-decrescendo that radiates to suprasternal notch, louder when patient stands (decreased preload and afterload)
Split S2
A2: aortic
P2: pulmonic
- complete right bundle branch block
- pulm stenosis
3 PAH
IgA def
recurrent resp and gi infection s
low or absent IgA
normal B cell and concentrations of other Ig
ROC
Sensitivity vs 1-specificity
area under cover represents accuracy
Lynch syndrome
AD mut of mismatch repair genes leading to microsatellite instability
Colon, endometrial, and ovarian cancers
Ca-125+
Calcineurin inhibitors
Tacromilus and cyclosporine
decreased transcription of iL-2 gene in t lymphocytes in response to ag stimulation
se: nephrotoxicity due to afferent and efferent arteriolar vasoconstriction and obliterative vasculopathy
Metoclopramide
Used to treat vomiting and gastroparesis
Can cause de novo parkinsonian symptoms and trigger extrapyramidal reactions. therefore, should be avoided in patients with parkinson disease
Alkaptonuria
AR
defect in homogentisic acid dioxygenase (HGD) in tyrosine metabolism
Increased homogentisic acid in urine (urine turns black)
Ochronosis (black-blue pigment in eyes, ears, nose)
Ochronotic osteoarthropathy (pigment deposition in spine and large joints)
Tissue ischemia
Increase in extracellular K+
reduced extracellular Na, Ca, HCO3
Cytoplasmic Ca2+ accumulation
Foam stability index
evaluates surfactant functionality
Female athlete triad
- insufficient caloric intake
- amenorrhea (decreased GnRH, decreased LH and FSH, decreased estrogen)
- osteoporosis
Homocystinuria
Cystathione synthase deficiency
marfanoid habitus (downward lens dislocation) hypercoagulability intellectual disability
heparin vs warfarin in pregnancy
Heparin is water soluble and does not cross the placenta
warfarin is lipophilic and can cross placenta
Reassortment
mixing of genomic segments in viruses that infect same host cell
results in antigenic shifts responsible for pandemics
Recombination
gene exchange through crossing over of 2 DNA molecules
Transformation
uptake of naked DNA by cells
rarely causes genomic changes in progeny virions
hyperkalemia on EKG
1. peaked T waves 2 loss of P 3. prolonged PR 4. widened QRS 5. slowed rate
Pineal gland tumor
upward gaze palsy, absent pupillary light reflex, impaired convergence
nausea vomiting
hydrocephalus
