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
Locations of thoracocentesis
Between the 5 and 7th ICS at the mid-calvicular line anteriorly (above the rib); between the 7 and 9th ICS at the midaxillary line ABOVE THE RIB; and at 9 and 11 ICS mid scapular, posterior and above the rib
Voluntary Social withdrawal (Aloof), limited emotional expression, content with social isolation
Schizoid; Cluster A personality disorder
Hypersensitive to rejection, socially inhibited, timid, feelings of inadequacy, desires relationship with others
Avoidant; closer C personality disorder
Bence Jones protein
multiple Myeloma
interleukins that mediate cachexia
TNF, IFN-gamma, IL-1, and IL-6
Treatment for overdose of ethylene glycol
Fomepizole (Alcohol Dehydrogenase Inhibitor)
Inihibits acetaldehyde dehydrogenase leading to symptoms of hangover due to the accumulation of acetaldehyde
Disulfram
Increased LES tone with uncoordinated or absent esophageal peristalsis
Achalasia; A-Chalasia absent relaxation; absence of aurebach plexus
Decreased LES tone, decreased esophageal motility, taut skin, finger pitting
CREST Syndrome
Anti-centromere Anti-body
CREST syndrome
Anti-DNA Topoisomerase I antibody
Diffuse scleroderma
This structure covers the surface of the bone and functions to deliver nutrients from the blood to the bone marrow.
periosteum
Space between osteon
Lamella
Inhibit production of NAD+ in the electron transport chain
Rotenone; inhibits complex I
Inhibits complex III in the electron transport chain
Antimycin A
Inhibits Complex IV in the electron transport change preventing the formation of O2
Cyaninide, CO, and Azide
inhibiting of complex V in the electron transport change leading to decreased levels of ATP and an increase in the proton gradient.
Oligomycin
Uncoupling agents of ETC that leads to increased membrane permeability, decreased proton gradient, and increased O2 consumption; ATP production stops but ETC continues.
2,4-Dinitrophenol, ASA OD, Thermogenin in brown fat
What is the polyadenylation signal in a eukaryotic gene
AATAAA
vWF binds to which receptor on the endothelial cell surface
Gp1b
Monoclonal antibody that binds GpIIb/IIIa on the surface of platelets prevents the binding of what substance
fibrinogen
ADP binds to which receptor on the platelet surface
P2Y12
A study that demonstrates a high statistical power is associated with what kind of error?
Type II error; stating that there is no effect or difference when one does exist.
Type of error that involves P values (p= 0.05)
Type I error/ False positive error: stating that there is a difference when none exists.
SAEs of Metformin
Lactic acidosis (beware of renal insufficiency; this can exacerbate), weight loss, GI upset, B12 deficiency
how sickling occurs in Sickle cell anemia
low O2, high altitude, or acidosis causes deoxygenated HbS to polymerize leading to anemia and vaso-occlusive disease
Dysarthria, dysphagia, asymmetric limb weakness, fasciculations, atrophy
ALS: Corticospinal and anterior horn degeneration
Stimulationof receptor that cause pupillary dilator muscle contraction leading to mydriasis
Alpha-1
Stimulation of receptor that decreases uterine Tone
Beta-2
intentionally withholding an idea or emotion from conscious awareness
Suppression
unintentionally withholding an idea or emotion from conscious awareness
Repression
Stones most commonly associated with recurrent UTI and urease positive bugs
Struvite/ Ammonium magnesium phosphate
ingestion of antifreeze, excess vitamin C, malabsorption is associated with what type of stone formation
Calcium (Oxolate or phosphate); phosphate less common
Which lung cancer most commonly arises in nonsmokers
Adenocarcinoma (Associated with KRAS, EGFR, and ALK mutations)
What is the leading cause of death in women
heart disease (men and women)
projecting ones thoughts or feelings to a person that does not actually have them
Projection; immature defense.
Nausea, gi upset, hyperkalemia, EKG abnormalities
Digoxin
newborn with failure to thrive, infantile cataracts, jaundice, hepatomegaly, intellectually disability; predisposes to E coli sepsis in neonates
uridyltransferase deficiency in Galactose pathway results in elevated Galatactose-1-Phosphate
hypotonic infant with reducible umbilical hernia, enlarged tongue, and large fontanelle
congenital Hypothyroidism
Cytokine that causes cachexia in malignancy
TNF-Alpha
acetaminophen overdose, Carbon tetrachloride, metal storage diseases, bronchopulmonary dysplasia, and retinopathy of prematurity are examples of what kind of cellular damage
free radical injury
What drug should be administered to an infant with newly diagnosed Sickle Cell Anemia
Hydroxyurea
Proteins involved in the RBC membrane defects seen in hereditary spherocytosis
Ankyrin, band 3, protein 4.2, spectrin
Increased HbF with total decreased Hb; short stature, craniofacial abnormalities, upper extremity malformations (triphalangeal thrumbs)
Diamond Blackfan: intrinsic defect in erythroid progenitors
short stature, cafe-au-lait spots, thumb/radial defects; increased incidence of tumors/ leukemia, Aplastic Anemia
Fanconi Anemia
Defect in non-homologous end joining in DNA repair
Fanconi Anemia;
mechanism of Negative Selection in T cell maturation and where does it occur
Occurs in medullar; T cells with high affinity for self-antigens undergo apoptosis
Mechanism of positive selection in T Cell maturation, Where does it occur?
Occurs in the cortex; T cells capable of binding self-MHC on the surface of cortical epithelial cells survive
Pyrrolidonyl (PYR) + bacteria
Strep Pyogenes, Enterococcus
Inflammtory and immune response to increased cortisol
Neutrophil leukocytosis, inhibition of PG and leukotrienes, Blocking histamine release from mast cells, Eosinopenia, lymphopenia, blocks Il-2 production
