peutz-jeghers syndrome
AD
- numerous hamartomas throughout the GI tract
- hyperpigmented macules on mouth, lips, hands, genitalia
- associated with increased risk of breast and GI cancers (colorectal, stomach, small bowel, pancreatic)
FAP or lynch syndrome + malignant CNS tumor (medulloblastoma, glioma)
turcot syndrome
FAP + osseous and soft tissue tumors, congenital hypertrophy of retinal pigment epithelium, impacted/supernumerary teeth
gardner syndrome
anisocoria
unequal pupil size
job syndrome
hyper-IgE syndrome
-recurrent skin and lung infections
colorectal, endometrial, and ovarian cancer
lynch syndrome (MSH2, MLH1, MSH6, PMS2) -problem with mismatch repair
what two immunosuppressants are nephrotoxic
cyclosporine and tacrolimus
what drug is contraindicated in parkinson disease
metoclopramide
-can exacerbate or cause de novo parkinsonian symptoms and trigger extrapyramidal reactions due to its antagonistic effect on dopamine receptors
alkaptonuria findings
AR
- bluish-black connective tissue, ear cartilage, and sclerae (ochronosis), urine turns black on prolonged exposure to air
- may have debilitating arthralgias (homogentisic acid toxic to cartilage)
if the pt is a professional athlete what should be on your radar
GnRH suppression
pathogenesis of proptosis
glycosaminoglycan accumulation
infant with painless compressible mass that transilluminates
cystic hygromas (lymphangiomas)
- cystic lymphatic malformation when the lymphatics dont properly link up to the venous system
- most often found on left side of head and neck
- most commonly associated with chromosomal aneuploidy (turner syndrome and trisomies)
disinhibited behavior (hyperphagia, hypersexuality, hyperorality, visual agnosia, placidity, amnesia)
Kluver-Bucy syndrome
HSV encephalitis and traumatic brain injury are both potential causes
what is the predominant cell type in psoriasis
dendritic cells and you will also see hyperkeratosis
xerosis (gross scaly picture)
asteatotic dermatitis (winter itch)
- usually in older people during winter months when heaters make the house less humid and skin more dry
- just make sure the pt moisturizes after taking lukewarm showers and doesnt use alkaline soaps
explain the structure of G protein coupled receptors
7 transmembrane domain with a hydrophobic core in alpha-helical secondary structure
probenecid
- inhibits reabsorption or uric acid in proximal convoluted tubule
- inhibits secretion of penicillin
- can precipitate uric acid caliculi
stimulation of what nerve causes reflex coughing or vomiting
auricular branch of the vagus nerve
what causes syncope when someone is coughing
decreased venous return to the heart
what are cutaneous neurofibromas made of
proliferation of schwann cells
if a woman under 40 looks like shes in the early stages of menopause what do you think of
primary ovarian insufficiency
- presents with amenorrhea and elevated FSH
- may result from follicular depletion through accelerated atresia –> apoptotic process
explain the agglutination inhibition pregnancy test
agglutination –> negative test result (she is NOT pregnant)
no agglutination –> positive test result (she IS pregnant)
why do you add sirolimus to stents
inhibition of intimal hyperplasia
-prevents restenosis and scar tissue growth over the stent
heel of foot
common peroneal nerve
