NBME 13 Review Deck Flashcards
examples of Imprinting
Prader Willi (Chr 15; Paternal allele); Angelmans (Chr 15; maternal allele; UBE3A)
Presence of both normal and mutated mtDNA, resulting in variable expression in mitochondrial inherited disease
Heteroplasmy: mitochondrial inheritance pattern
myopathy, lactic acidosis, and CNS disease, and MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like symptoms); Failure of oxidative phosphorylation with a muscle biopsy showing “Ragged red fibers”
Mitochondrial myopathy; heteroplasmy
Cell death in optic nerves of neurons–> subacute bilateral vision loss in teens/ young adults; mostly males and its usually permanent
Leber Hereditary Optic Neuropathy; Mitochondrial inheritance pattern; heteroplasmy
Unilateral Cafe-au last spots with ragged edges, polyostotic fibrous dysplasia (bone replaced by collagen and fibroblasts), and at least one endocrinopathy (precocious puberty)
McCune-Albright Syndrome- G-protein signaling mutation that can either be caused by germline (if parents not affected) mosaics or somatic
Treatment of cestode and trematode infections by increasing cell permeability of Ca2+ leading to paralysis, dislodgment and death of the parasite.
Praziquental
This drug treats trematode and cestode infections by binding the coaching-sensitive site in beta-tubulin inhibiting polymerization of microtubules
Albendazole
OD: Euphoria, grandiosity, pupillary dilation, prolonged wakefulness and attention, hypertension, tachycardia, anorexia, paranoia and fever.
Amphetamines
OD: Flushed skin, pupillary constriction, watery eyes, runny nose, itchy skin, irrationality, overly relaxed.
Heroin
OD: Impaired judgement, pupillary dilation, hallucinations (can be tactile), paranoid ideations, angina, sudden death.
Cocaine
OD: Violence, impulsivity, psychomotor agitation, nystagmus, tachycardia, hypertension, analgesia, psychosis, delirium, seizures; trauma is a often a complication
Phencyclidine (PCP)
OD: perceptual distortion (visual or auditory), depersonalization, anxiety, paranoia, psychosis, possible flashbacks.
Lysergic Acid Diethlamide (LSD)
OD: Euphoria, anxiety, paranoid delusions, perception of slowed time, impaired judgement, social WD, Increased appetite, dry mouth, conjunctival injection, hallucinations,
Marijuana
OD: teeth clenching, euphoria, disinhibition, hyperactivity, distorted sensory and time perception. Life-threatening effects include HTN, tachycardia, hyperthermia, hyponatremia, and serotonin syndrome; Releasing agent of 5HT, NE and DA.
MDMA
MOA of Cisplatin + SAEs; preventing of Nephrotox x
ototoxicity (gong), nephrotoxicity (ATN gutter and AKI purse), Myelosuppression (empty bone box), peripheral nephropathy (stocking glove); Nephrotox prevented with Amifostine
inability to form Hydroxy-Halides is due to a deficiency in which enzyme of the respiratory burst pathway.
Myeloperoxidase
Deficiency in this enzymes leads to an inability to form Hydrogen Peroxide
Superoxide Dismutase
Failure of tetrazolium dye reduction test (obsolete) fails to turn blue
Chronic Granulomatous disease
Three major female hormones
Estradiol> estrone> estriol
Differentiation of epididymis, vas deferens, seminal vesicles; growth spurt: penis, seminal vesicles, sperm , muscle and RBCs; Deepening of voice; closing of epiphyseal plates through the peripheral conversion to estrogen; libido (including erection)
Testosterone
Early differentiation of penis scrotum and prostrate; Late–> prostate growth, balding sebaceous gland activity
DHT
Hematuria in the absence of colicky painful
Bladder Cancer
Atrophic tubules with cortical scaring, blunted calyces; mimics thyroid follicles
Chronic Pyelonephritis; secondary to Vesiculureter reflux
Colicky pain, with unilateral flank pain and hematuria
nephrolithiasis (Typically CaOx)
Grossly orange nodules caused by proteus infection that can mimic tumor nodules; associated with widespread kidney damage caused by granulomatous tissue containing foamy macrophage
Xanthogranulomatous pyelonephritis
SAEs of cyclophosphamide
Hemorrhagic cystitis (tx with mesna); transitional Cell carcinoma/ urothelial cell carcinoma with long term use; bone marrow suppression; early menopause in women and azoospermia in men
Spiny RBCs (Acanthocytosis), retinitis pigmentosa, spinocerebellar degeneration due to vitamin E deficiency, progressive ataxia, and low cholesterol
Abetalipoproteinemia; autosomal recessive; ApoB-100 and ApoB-48 deficiency
Pancreatitis, hepatosplenomegaly, eruptive/ pruritic xanthomas and creamy layer in supernatant; elevated TG, Chol, and Chylos
Hyperchylomicronemia associated with a ApoC-II deficiency
Absent or defective LDL receptors or defective ApoB-100
Familiarl Hypercholesterolemia; Autosomal dominant
Premature atherosclerosis, tuberoeruptive xanthomas, palmar xanthomas
Dysbetalipoproteinemia associated with defective ApoE and is autosomal recessive
Hypertriglyceridemia leading to acute pancreatitis
Hypertriglyceridema due to hepatic overproduction of VLDLs
Pituitary ACTH production leads to bilateral _______ of the adrenal glands; Also associated with 21Alpha Hydroxylase Deficiency
hyperplasia