uworld assessment block #4 4.15 Flashcards
infectious arthritis causes? presentation
most common (1) n. gonorrhea (disseminated). can also be (2) s. aureus (2) streptococcus
STD triad: synovitis (arthralgia, knee), tenosynovitis (hand), dermatitis
(note, no eye symptoms. compared to reiter’s – conjunctivitis)
differentiate infectious arthritis from reactive arthritis ‘reiter’s’
infectious agents:
infectious arthritis: gonorrhea, s. aureus, strep
reactive arthritis: nongonococcual urethritis (chlamydia) and GI bugs (campylobacter, salmonella, shigella, yersinia)
eye involvement:
infectious: tenosynovitis, synovitis, dermatitis
reactive: conjunctivitis, seroneg arthritis, urethritis
viral arthritis
symmetric polyarticular disease. associated w/ parvovirus, hep B, hep C, rubella, alphavirus
prader-willi presentation
neonatal hypotonia, extreme hyperphagia, morbid obesity, ultimately DM type II, short, small hands & feet, hypogonadism, characteristic facies.
pathophysiology of prader-willi
imprinting.
normal: mom’s gene 15q11 region SILENT. express ONLY PAPA.
disease:
(1) delete papa’s gene
(2) 25% uniparental disomy (only inherit mom’s imprinted gene)
would detect microdeltion of papa’s chr 15 on FISH. if FISH is normal = uniparental disomy.
pathophysiology of angelman’s syndrome
imprinting
normal: papa’s gene is normally SILENT. express ONLY MOM.
disease:
(1) delete mom’s gene
(2) 5% uniparental disomy. (only inherit papa’s imprinted gene)
presentation of angelman’s syndrome
inappropriate laughter “happy puppet”, seizure, ataxia, severe intellectual disability
paracentric inversions
inversions of chromosomal DNA in one arm of chromosome not including centromere
GI presentation of celiac’s disease
(1) blunting of villi (2) lymphocytes in lamina propria (3) hyperplasia of crypts
CD8+ T cells infiltrate surface epithelilum, while CD4+ in lamina propria.
distal duodenum
Ab found in celiac’s disease
anti-transglutaminase, anti-gliadin, anti-endomysial
presentation of dermatitis herpatiformis? pathophysiology?
PRUITIC erythematous urticarial plaques on extensor surfaces of elbow, knee, buttocks, back.
caused by CROSS-REACTION of gliadin IgG and IgA with RETICULIN
–> component of fibrils that anchor the epidermal basement membrane to superficial dermis.
neutrophils at dermal tips –> microabscesses –> subepidermal blisters
normal thickness of right ventricle? left ventricle?
right: 3-4mm
left: 1 cm
layers of epidermis
corneum lucidium granulosum spinosum basale
describe stratum corneum
15-20 layers of dead squamous cells that lack nuclei.
generally thickest in regions exposed to friction (soles of feet)
callus
painless thickening of stratum corneum, at locations of repeated of external pressure / friction
essential characterestics of PCOS
amenorrhea, obesity, hirsuitism, virilization, peripheral insulin resistance, dyslipidemia
ovaries in PCOS
bilateral enlargement and smooth thickened capsules.
subcapsular follicles in diff stages of atresia.
hyperplastic theca stroma cells rim arrested follicles
hormone imbalance in PCOS
elevation in everything EXCEPT FSH
think: high LH makes theca cells produce more androgens.
FSH is diminished, so granulosa cells can’t make as much estrogen.
lesch-nyhan inheritance? presentation?
X-linked recessive.
self-mutilating behavior, mild mental retardation, involuntary movement, delayed motor development, nephrolithiasis, gout
FROST on skin under diaper –> hyperuricuria
rx: allopurinol
HGPRT fxn
purine salvage.
convert hypoxanthine and guanine to inosine monophosphate (IMP) and guanine mono phosphate (GMP).
absence: increased purine synthesis, hyperuricemia, hyperuricuria
ADA deficiency
impt for purine catabolism. deficiency: build up dATP, inhibit ribonucleotide redutase, inhibit DNA synthesis.
adenine phosphoribosyltransferase (APRT)
involved in purine salvage. converts adenine to AMP.
deficiency: hyperuricemia and adenine stone urolithiasis.
autosomal recessive. no neurological symptoms
erythromyocin drug effect
block translocation.
prevent tRNA release from donor site after peptide bond formation. 50S.
chloramphenicol drug effect
bind to 50S
block peptidyltransferase action
puromycin
aminonucleoside, structure analogus to aminoacyl-tRNA.
leads to premature release of unfinished polypeptide chains and polypeptidyl-puromycin derivatives.
differentiation of a cell primarily depends on
transcription factor: favors expression of only those genes required for cell to perform function.
specific for each individual tissue.
cytokine vs. growth factor
growth factor = type of cytokine. stimulate GROWTH and DIFFERENTIATION of various lines. regulates synthesis of transcription factor.
timolol for glaucoma?
block b2 receptor mediated secretion of aqueous humor from ciliary epithelium
what GI hormone would be elevated in a patient with pernicious anemia?
GASTRIN. autoimmune destruction of parietal cells.
parietal cells secrete instrinic factor (bind to b12) AND HCl!
low HCl will prompt Gastrin secretion
pernicious anemia
results in atrophic gastritis w/ profound hypochloridia and increased serum gastrin levels
what leads to varicoele (left)
compression of renal vein between SMA and aorta
recumbent position allows blood to drain fine
spermatocele
cystic masses, arise from caput of epididymis. measuring between 2-5cm in diameter. usu do not cause symptoms
transillumination of varicoele
NEGATIVE. will not.
where does fluid accumulate in hydrocoele?
between parietal and visceral layers of tunica vaginalis
Peutz-Jegher’s
rare, autosomal dominant. pigmented mucocutaneous macules and hamartomatous polyps in GI tract.
acanthos nigricans suggests (2)
underlying GI malignancy (gastric) and / or insulin resistance
neurofibromas that undergo malignant degeneration?
malignant peripheral nerve sheath tumors
rx after mechanical valve surgery (chronically)
warfarin (antagonize vitamin K-dependent gamma-carboxylation)
antiplatelets are not enough!
when are gbIIb/IIIa blockers used?
acute coronary syndrome
what origin is melanocytes
neural crest cell
at what stage to oocytes arrest in development
primary oocytes in prophase
cardiac problem seen in diGeorge?
truncus arteriosus, tetrology of fallot, interrupted aortic arch
3rd and 4th pharyngeal pouch important for
parathyroids, thymus, and ultimobranchial body