Misc Flashcards
Neuroblastoma:
what paraneoplastic syndrome
arises from…
crosses or not?
elevated biomarker…
genetic marker…
histopathology
Neuroblastoma:
opsoclonus-myoclonus syndrome (opsoclonus is rapid, involuntary conjugate fast eye movements)
arises from neural crest cells/neuroblasts (sympathetic chains or adrenal medulla)
crosses midline
elevated homovallinic acid
MYCN oncogene amplification
small, round, blue cells
Wilms tumor
Gene
derivation
crosses the midline?
histology
Wilms tumor
WT1 gene on chromosome 11
nephroblasts
doesn’t cross midline
primitive renal tubules, primitive small blue cells, and fibroconnective stromal tissue
Essential amino acids
Phenylalanine
Valine
Tryptophan
Threonine
Isoleucine
Methionine
Histidine
Arginine
Leucine
Lysine
Premature infant with respiratory distress and a biopsy showing surfactant-rich exudate and silver-staining cysts
PJP
Albinism
caused by deficiency of…
Albinism
tyrosinase
MSUD
failed metabolism of…
decreased enzyme:
symptoms:
MSUD
failed metabolism of… branched chain amino acids
decreased enzyme: alpha-ketoacid dehydrogenase
symptoms: metabolic ketoacidosis, motor abnormalities, seizures, urine smells like sugar
Tay-Sachs disease
deficiency of….
which normally breaks down…
symtpoms:
Tay-Sachs disease
deficiency of…. hexosaminidase A
which normally breaks down… ganglioside GM2 (glycolipid)
symtpoms: blindness, loss of developmental milestones, death before 5, cherry-red macula
superior laryngeal nerve, internal branch
accompanies (artery)
what does it do?
superior laryngeal nerve, internal branch
accompanies superior laryngeal artery
what does it do? sensation in laryngeal mucosa above the vocal folds and afferent limb of cough reflex
superior laryngeal nerve, external branch
innervates…?
superior laryngeal nerve, external branch
innervates cricothyroid, tenses the vocal cords
recurrent laryngeal nerve
function?
recurrent laryngeal nerve
function? all muscles of larynx except cricothyroid, sensory to laryngeal mucosa below vocal folds
Von Hippel-Lindau disease
inheritance and gene?
characteristics?
Von Hippel-Lindau disease
inheritance and gene? VHL gene on chromosome 3p, AD
characteristics? retinal and CNS (cerebellar) hemangioblastomas; bilateral renal cell carcinomas and pheochromocytomas; EPO overproduction–>polycythemia
NF type I
gene and inheritance?
characteristics?
NF type I
gene and inheritance? NF1 on chromosome 17q, AD
characteristics?
Cafe au lait macules
Axillary
Freckling
Eye lesions (Lisch nodules of iris)
Scoliosis
Pheochromocytoma
Optic
Tumors (Gliomas)
NF2
inheritance and gene?
key features?
NF2
inheritance and gene? NF2 on chromosome 22q, AD
key features?
acoustic neuroma, meningiomas, juvenile cataracts
STURGE-Weber disease
STURGE-Weber: Sporadic, port-wine Stain; Tram track calci cations (opposing gyri); Unilateral; Retardation (intellectual disability); Glaucoma, GNAQ gene; Epilepsy
Familial hypercholesterolemia type II
mutation in…
inheritance?
Familial hypercholesterolemia type II
mutation in… LDL receptor (APO B100 receptor) in liver
AD, but homozygous is much worse (MI < 20)
Type I hyperlipoproteinemia, hyperchylomicronemia
deficiency in…
symptoms…
Type I hyperlipoproteinemia, hyperchylomicronemia
deficiency in… apolipoprotein C-II, LPL
symptoms… creamy layer in supernatant, pancreatitis, hepatosplenomegaly, xanthomas, no elevated atherosclerosis risk
Primary amyloidosis
Amyloid…
Derived from…
Buzzword condition…
symptoms…
Primary amyloidosis
Amyloid… AL
Derived from… immunoglobulin light chain
Buzzword condition… multiple myeloma (plasma cell dyscrasias)
symptoms… kidneys (nephrotic syndrome), heart (restrictive cardiomyopathy), hepatosplenomegaly, enlarged tongue
Chagas disease
Cause:
Symptoms:
Treatment:
Chagas disease
Cause: T. cruzi, Reduviid bug
Symptoms: megacolon, megaesopohagus, dilated cardiomyopathy
Treatment: nifurtimox
Sirolimus
MoA
Side effects
Sirolimus
MoA: inhibits T-cell activation and proliferation by binding mTOR
Side effects: hypercholesterolemia/trigylceridemia, afib, heart failure, palpitations; NO nephrotoxicity and neurotoxicity
Cyclosporine and tacromilus
MoA:
Side effects:
Cyclosporine and tacromilus
MoA: inhibit calcineurin-mediated transcription of IL-2
Side effects: nephrotoxicity, neurotoxicity
MCAD deficiency:
accumulation of:
results in:
MCAD deficiency:
accumulation of: C8-C10 acylcarnitines
results in: hypoglycemic hypoketonemia; ammonia accumulation since urea cycle doesn’t have ATP; vomiting, seizures, coma, lethargy, liver dysfunction
