USLME world 1 Flashcards
Collagen synthesis
RER: -Rough ribo: synthesizes Pre-Po-Alpha-chains -Signal Sequence cleaved: pro-alpha-chains -Hydroxylation: Proline & Lysine VITAMIN C DEPEnDENT -Glycosylation: of Galactose and Glucose -Assembly of pro-alpha chains into procollagen TRIPLE HELIX (transfered to Golgi and secreted) EXTRACELLULAR: -N and C terminals cleaved by peptidases: Tropcollagen -Spontaneous assembly: collagen fibrils -Covalent cross links made by Lysyl oxidase
Inulin PAH
Inulin=GFR, filtered PAH=filtered + secreted, renal plasma flow (better than creatinine for measuring bc creatinine not secreted as much)
Odds ration
ad/bc odds that the group with the disease was exposed to the risk factor (a/c) divided by the odds that the group without the disease was exposed (d/b) disease risk factor + - + a b - c d
Beck’s triad: -Jugular venous distension -hypotension -tachycardia -distant/muffled heart sounds -pulsus paradoxus
Cardiac tamponade -Elevated central venous pressure in superior vena cava–> JVD -low QRS and electrical alternans. -lung sounds nrml
Pleuritic chest pain + pericardial friction rub
Acute fibrinous pericarditis follows URI
Pulsus paradoxus
decreased amplitude of systolic blood pressure by > 10mmHg during inspiration. (Cardiac tamponade, astham, obstructive sleep apnea, pericarditis, croup)
6th aortic arch
pulmonary arteries & ductus arteriosus
1st aortic arch
maxillary artery
2nd aortic arch
stapedial artery and hyoid artery
3rd aortic arch
common carotid artery and proximal part of internal carotid artery
4th aortic arch
Left: aortic arch Right: proximal part of right subclavian artery
metalloproteinases
Zinc containing enzymes that degrade extracellular matrix (collagen, laminin, fibronectin). Metalloproteinases are essential for proper tissue remodeling during wound healing
FOscarnet
viral DNA polymerase inhibitor that binds pyrophosphate-binding site of the enzyme. DOES not require viral kinase activation. use: CMV retinitis if ganciclovir fails or in acyclovir-resistant HSV SE” Nephrotox Resistance: mutated DNA polymerase
Acute goutry arthritis tx, drug’s moa
NSAIDS-first line 2nd line: Colchicine: prevent MT formation by binding tubulin SE: diarrhea, nausea, vomiting, abdominal pain bc also disrupts MT in GI mucosa cells
drugs that act on MT
Mebendazole ( anti-helminthic) Griseofulvin (anti-fungal) Colchicine (anti-gout) Vincristine/Vinblastine (anti-cancer) Paclitaxel (anti-cancer)
Gingival hyperplasia SE drugs
Phenytoin, verapamil, cyclosporine, nifedipine
SLE like syndrome SE drugs
SHIPPE: Sulfa, Hydralazine (Vasodilation arteries>veins, increase cGMP-> smooth muscle relaxation. use: CHF, HTN in pregnancy) , INH, Procainamide (Class IA), Phenytoin, Etanercept (TNF receptor fusion protein)
Alveolar-arterial gradient (A-a)
Palveoli (O2)-Parterial (O2)=10-15mmHg=nrml If nrml-> no V/Q mismatch, no diffusino impairment If nrml and patient hypoxemic: alveolar hypoventilation or inspriing low P(O2)
4 major causes of hypoxemia
alveolar hypoventilation, ventilation perfusion mismatch,diffusion impairment, right-left shunting. The first one has nrml (A-a) gradient
Rifampin
Inhibits DNA dependent RNA polymerase Use: TB (NOT ALONE), with dapsone for leprosy to delay resistance, PROPHYLAXIS for meningococcal and chemoprophylaxis for H.influenza type B. Tox: Minor hepatotox, orange body fluids, Ramps UP CYP 450 (But Rifabutin doesnt!)
Young Caucasian, Recurrent Sinusitis
Cystic fibrosis: -Auto recessive, chrm.7-CFTR gene defect: deletion of Phe508 CFTR: ATP-gated Cl channel secrete Cl in lungs & GI and reabsord Cl in sweat glands (sweat test). Mutation: misfolded, stays in RER. Increased intracellular CL leads to Increased Na reabsorption via epithelial Na channel therefore to H2O reabsorption-> abnml think mucus in lungs and GI. Increased Na reabsorption also means negative transepithelial potentia difference
Lecithin/Spingomyelin <1.5
Neonatal Distress Syndrome if below 2 by 35 gestational weeks Surfactant starts being secreted in 3rd trimester by penumocytes II Lecithin: phosphatidylcholine
Hemoptysis, hematuria, Histo: focal necrosis of alvelolar wall and intra-alveolar hemorrhage, Kidney nep
Goodpasture HLA DR2 associated Type II hypersensitivity reaction, antibodies to GBM and alveolar basement membrane, linear IF, glomerulonephritis with crescent of fibrin and plasma proteins, macrophages…
Subcutaneous nodules on knee, dorsum of hand, achilles tendon xanthomas. Elevated total cholesterol, elevated LDL cholesterol.
Familiarl hypercholesterolemia: auto dominant Defective or absent LDL receptors. Excessive LDL deposits in arteries as atheromas and in tendons and skin as xanthomas xanthomas=hyper TG and cholesterol
Mitral Stenosis
Late Diastolic murmur follows opening snap. If interval between S2 and OS decreases=worst!!!! Always Rheumatic Fever Leads to LA dilation Expiration: increases LA return: enhances MS
Rheumatic Fever
Group A Strep. Pyogenes, Beta-hemolytic, Coagulase positive, Catalase negative, Bacitracin sensitive (Causes : Pharyngitis,Cellulitis, Erysipelas, Rheumatic Fever, Post-strep GMN) Death cause: myocarditis Early lesion: mitral valve regurgitation (systolic holosystolic, high pitched, apex->axilla) BUT late lesion is mitral stenosis ASCHOFF BODIES: granuloma with giant cells & ANITSCHKOW cells: enlarged Mo. w/ ovoid, wavy, rod-like nucleus TYPE II hypersensitivity: Antibodies to M protein cross react with self antigens! FEVERS: Fever, Erythema marginatum, Valve damage, ESR increase, Red hot joints, Suubcutaneous nodules, Sydenham chorea!
Peutz Jeghers Syndrome
Auto DOMINANT, multiple nonmalignant hamartomas in GI tract + hyperpigmentation of mouth, lip, hands, genitalia. (can get intussusception, obstruction of GI)
Increase risk of CRC and other maligancies.
Mutation in Serine/Threonine kinase 11
mutliple cafe au lait macules, cutaneous neurfibromas, axillary or inguinal freckling, optic glioma, iris hamartomas, osseus lesions
NF1
Lipoma vs Liposarcoma
Lipoma: Soft, rubbery, mobile, subcutaneous nodules made of mature fat cells without pleomorphism.
Liposarcoma: Soft-tissue malignancies, many lipoblasts (cells that make non mb bound cytoplasmic lipid), nuclear indentations, scallopingof nuclear mb. Middle-aged, slow growing, painless of trunk or lower extremities (picture)
Fibrosarcoma
Fibroblast based malignancy, anaplastic spindle cells, marked disarray, pleomorphism, mitotic activity, hemorrhage, necrosis. Secondary to Piaget Bone disease.
Pemphigus Vulgaris vs Bullous vs dermatitis herpetiformis
Pemphigus: IgG autoAb to desmogleins 1 and 3 (spinous stratum), IF: netlike pattern (reticular)
Bullous: autoAb to hemidesmosomes (attached to basmt mb), bellow epidermis. IF linear
Dermatitis herpetiformis: IgA depostio in upper papillary dermis
Epidermolysis bullosa acquisita: autoAb to type VII collagen
Horner syndrome
PAM is horny
Ptosis
Anhidrosis
Miosis
AM-hemifacial!
Hypothalamus -> spinal cord (down)-> (& back up) superior cervical ganglion-> eye, sweat glands of face
45XO
Turner Syndrome:
Short stature, shield chest, Primary amenorrhea, no barr body,complete monosomy XO or mosaicism
DECREASED estrogen w/ INCREASED LH&FSH
Ovarian streak (ovarian dysgenesis): infertile but have uterus and with IVF and estrogen and progesterone supplementation can get pregnant. Nrml uterus + vagina.
Bicuspid aortic valve, preductal coarctation of aorta. Horseshoe kidney, lymphatic defects (webbed neck or cystic hygroma, lymphedema of feet and hands)
Bromocriptine
Dopamine receptor agonist can inhibit prolactin and restore fertility in women with hyperprolactenemia
Or used for pituitary adenoma (prolactinoma)
or PARKINSON tx
Clomiphene citrate
blocks negative feedback of circulating estrogen at hypothalamus, increases FSH and LH
Use: PCOS, SERM, to treat infertility due to anovulation
drugs that cause Diabetes insipidus
lithium (used for mood stabilization in bipolar disoder, can also be used in SIADH) and
dimeclocycline (ADH antagonist_tetracycline family used in SIADH)
2yo, painless red bleeding per rectum with discharge that has gastric mucosal cells
Meckel diverticulum
Prokaryotic DNA polymerase I vs III
I: Removes RNA primers in lagging strand and replaces it with DNA
III: makes DNA in 5’ to 3’ direction
CA 125
alpha fetoprotein
CA 19-9
Ovarian cancer
Hepatocellular cancer, nonseminomaotus germ cell tumor (endodermal sinus yolk sac tumors)
adenocarcinoma of pancreas
Alkaptonuria
Inherites deficiency of homogentisate 1,2-dioxygenase in degradation of tyrosine to fumarate
auto recessive
Dark urine on standing/exposure to air
Destructuve arthritis later in lige bc homogentisic acid deposits in articular cartilage
Ochronosis, blue-grey discoloration of skin and ears too, brown in sclera.
Renin stimulation
Decreased NaCL
Decreased pressure in afferent arteriole
Sympathetic stimulation
EKG signs of hyperkalemia
HypoCalcemia
HyperCalcemia
Hypokalemia
Peaked T waves, loss of P wave, prolonged PR intercal, widening of QRS compkex, slowed HR–>venti fibrillation
Hypocalcemia: QT prolongation
HyperCa: QRS shortening
Hypokalemia: QT interval prolongation, U waves and ST depression
Parinaud syndrome
Paralysis of conjugate vertical gaze due to lesion in superior collliculi (pinealoma-> mass effect)
Upward gaze palsy, absent pupillary light reflex, failure of convergence and wide based gait.
Damage to oculomotor, trichlear and edinger westphal nucleus (parasympathetic innervation of eye)
Phenylepherine
alpha 1 adrenergic receptor agonist
Arterial vasoconstriction: increased in vascular resistance and BP–> increase in BP elicits baroreceptor-mediated vagal tone which leads to decreased stroke volume and slowed HR
(phenylephrine increase TPR so body decreases CO to maintain BP by decreasing HR and SV
BP=TPR*CO and CO=HR*SV)
Pulse-pressure is decreased bc of the reflex (decreased SV and increased afterload)
CAAT and TATA box
80-70bp upstream and 25bp upstreamof transcription start site ATP
Promote initiation=bdg site for RNA polymerase II=transcription initiator
Amyotrophic lateral sclerosis
muscle weakness and atrophy distally->proximally
Hyperreflexia and spasticity
Cystic hygroma
cavernous lymphangioma of the neck. Associated to turner syndrome and trisomies so with chromosomal aneuploidy. Lymphatic lesion, doesnt connect to venous circulation. Children>adults. Painless. tranlluminate. Karyotype abnormalitis are present in 25-70% of children
Rash (Stevens Johnson syndrome
Anti-epipileptic drugs (ethosuximide, carbamazepine, lamotrigine, phenytoin, phenobarbital) Allopurinol, sulfa drugs, penicillin
Steven Johnson has EPILEPTIC ALLergy to SULFA drugs and penicillin
drugs that cause photosensitivity
SAT For Photo
Sulfonamides, Amiodarone, Tetracyclines, 5 FU
SLE like syndrome
Having lupus is SHIPP-E
Sulfa, Hydralazine, **INH, **Procainamide, Phenytoin, Etanercept
Myopathy drug side effect
statins, niacin, fibrates, colchicine, hydroxychloroquine, INF alpha, penicillamine,glucocorticoids
Gingival hyperplasia
Phenytoin,verapamil, cyclosporine, nifedipine
CYP inducers +
Chronic alcoholic Mona Steals **Phen-Phen **and Never
Refuses Greasy Carbs
Chronic Alcohol use
Modafinil (daytime stimulants used for narcolepsy)
St. Johns wort (herb for depression)
Phenytoin
Phenobarbital
Nevirapine (NNRTI)
Rifampin
Griseofulvin (anti-fungal for tinea and ringworm)
Carbamazepine
CYP substrates
Always, Always, Always, Always Think When Starting Others
Anti-epileptics
Antidepressants
Antipsychotics
Anesthetics
Theophylline (blocks adenosine: bronchodilator by inhibiting phosphodiesterase, increase cAMP. (SE: cardiotoxicity, neurotoxocity), narrow therapeutic index
Warfarin
Statin
OCPs
CYP inhibitors —
A cute Gentleman Cipped Iced Grapefruit juice Quickly And Kept Munching on Soft Cinammon Rolls
Acute alcohol abuse
Gemfibrozil (fibrate: increase LPL, increasing TG clearance, activates PPAR alpha and increase HDL synthesis)
Ciprofloxacin (Fluroquinolones)
Isoniazid
**Grapefruit juice **
Quinidine
Amiodarone
Ketoconazole
Macrolides
Sulfonamides
Cimetidine
Ritonavir (boaster)
Kluver Bucy syndrome
Bilat lesion to amygdala (temporal lobe). associated with HSV-1. Hyperorality, hypersexuality, hyperphagia, dishinbited behavior, visual agnosia, aphasia, loss of nrml anger and fear, amnesia,
Tardive dyskinesia
rhytmic involuntray mvmt of mouth and tongue during chronic neuroleptic therapy.
Due to upregulation of dopamine receptors and decrease in cholinergic tone in the striatum.
Neuro finding of rabies
Eosinophilic cytoplasmic inclusions (Negri bodies=nucleocapsid material from the rabies virus) in the hippocampal neurons
Sulfasalazine
NSAID used for IBD and RA
Glucagon-life peptide 1
incretin stimulate insulin release following ORAL glucose consumption. GI hormones made by gut mucosa and stimulate pancreatic insulin secretion in response to sugar containing meals.
ACE inhibitor fetopathy
Secondary to ACE inhibitor therapy in mom. ANgiotensin II required for normal fetal renal development. Fetus have renal atrophy, renal hypoperfusion/ischemia, defective urine concentrating ability and anuria–>oligohydramnios (defecincy in amniotic fluid)->defective lungs and limb contractures–> poor fetal perfusion
Probenecid
Inhibits reabsorption of uric acid in PCT (also inhibits secretion of penicillin)
used for chronic Gout tx
SE: pt with sulfa allergies might react!
Could be used with penicillin to reduce its secretion
Imipenem
Beta-lactamase resistant carbapenem. ALways administered with cilastatin (inhibitor of dehydropeptidase I) to decrease inactivation of durg in renal tubules.
SE: SEIZURES
Spider angiomas
Size correlate with liver damage. Can be sen in pregancy of malnourishment or nrml.
In cirrhosis: hyperestrogenemia causes it, Estrogen is usually metabolized by the liver.
Hyperestrogenemia: spider angioma, plamar erythema, gynecomastia, testicular atrophy, decreased body har, contractures.
Loose and disorganized proliferations of Schwann cells (elongated, wavy cells with spindly nuclei), fibroblasts and neurites
Neurofibroma
Loose & bloody stools
Endoscopy: erythematous, edematous, friable, granular mucosa from anal verge to proximal colon.
Neutrophils accumulation in crypt lumina=> crypt abscesses.
INFtion limited to mucosa
Ulcerative colitis
Paclitaxel (and sirolimus)
drugs that coat stents they inhibit cell division and prevent intimal hyperplasia (=blood vessel due to these procedures, thickening of tunica intima
RNA virus that replicate in nucleus
Influenza virus (orthomyxovirus-ssRNA (-) 8 segments) and retroviruses
microsatellite instability
HNPCC (lynch syndrome), DNA mismatch repair genes
GI infection in HIV positive pt
CMVcolitis.
CMV retinitis
Histology: acute and chornic inflammation changes, vasculitis, giant cells with large ocoid nucleic containing centralized intranuclear inclusions
flank pain, flank mass, hematuria
renal cell carcinoma (90% renal malignancies). Inappropriate erythropoietin-> erythrocytosis
Cerebellar, retinal hemangioblastomas
renal cell caricnoma
phemochromocytoma
Von Hippel Lindau syndrome
Auto. dominant, tumor suppresor gene chrm 3
cerebellar degeneration, broad based gatie, leg ataxia, truncal instability
chronic alcohol consumption
Severe fasting hypoglycemia, increased glycogen in liver, increased blood lactate, hepatomegaly
Von gierke disease (type I)
auto recessive
Glucose 6 phosphatase deficient
** **Tx: frequent oral glucose/cornstarch, avoidance of frucose and galactose
Cori disease Type III milder than I with nrml lactate levels: debranching enzyme deficient. auto recessive. Gluconeogenesis intact
Cardiomyopathy and systemic findings leading to early death
Auto recessive
Severe: hypotonia, macroglossia, massive hypertrophic cardiomyopathy, early death
lysosomal alpha-1,4-glucosidase (acid maltase) deficient
—>glycogen accumulation in lysosomes
Pompe disease
Pompe trashes the pump
Pontine hemorrhage
pinpoint pupils, loss of horizontal gaze, quadriparesis, decerebrate posturing, coma and death in a few hours
Syncope, Angina, Dyspnea (SAD) on exertion
Aortic stenosis
Systolic murmur
Crescendo-Decrescendo
Loudest at heart base radiates to carotids!
Age related calcification or bicuspid aortic valve
MI + nrml coronary arteries
mitral valve thickening with vegations
coronary arteritis, hypercoagulability with acute thrombosis or coronary vasospans
infectious endocarditis, rhaumatic valvulitis, libman sacks endocarditis associated with SLE and non-bacterial thrombotic endocarditis.
Fixed S2 splitting
Atrial septal defect: left to right sunt. Increased blood flow thru the pulmonary artery
*Muscular pulmonary arteries may develop laminated medial hypertrophy that if severe over time increase pulmonary resistance above systemic resistance.
Eisenmenger syndrome occurs where the shint now becomes right to left! die tot chronic pulmnoary HTN and we see cyanosis, clubbing and polycythemia. Pulm vascular sclerosis becomes irreversible.
Persistent fever, bilateral conjunctivitis, lymphadenopathy, cutaneous involvemnt: oropharyngeal-palatine mucosa, fissured lips, strawberry tongue, peripheral extremeties_edema, erythema, and desquamation of hands and feets, generalized rash-polymorphous, extremities->trunk
Kawasaki
mononuclear blindnesss
temporal arteritis complication
Congenital QT interval prologation + congenital neurosensory deafness
Jervell and Lange-Nielsen Syndrome
auto recessive
mutation in K or Na channel of cardiac cells
predisposes to syncopes and torsades de pointes aka sudden death
RNA polymerase I
RNA polymerase II
III
i: in nucleolus, makes rRNA
ii: makes mRNA
iii: makes tRNA and small rRNA oustide of nucleolus
ANOVA (analysis of variance)
usedto compare the MEANS of 2 or MORE groups
Two-sample z test
Two sample t test
used to compar the MEANs of 2 groups
chi test
checks difference btwn 2 or MORE PERCENTAGES or PORPORTIONS of CATEGORICAL outcomes NOT MEANS
Daptomycin
Disrupts bacterial membrane by creating transmb channels->depolarization of mb, inhibitionof protein synthesis ->cell death
use: Gram positives only including MRSA, VRE
SE: Myopathy and CPK elevation. Inactivated by pulm. surfactant!
HAMARTOMA in lung
islands of mature hyaline cartilage, fat, smouth muscle, and clefts lined with respi epithelium_ disorganized firbous, cartilage, and adipose tissue
Benign, coin lesion, 50-60y
tryptase
marker of mast cell activation_sign of mast cell degranulation and therefore of anaphylaxis
PECAM1: CD31 expressing cells
Exposure to arsenic, throtrast, polyvinyl chloride
(Platelet endothelial cell adhesions molecule)
Leukocyte migration
Liver angiosarcoma: rare malignant endothelial ell associated with carcinogen exposure: arsenic, thorotrast and polyvinyl chloride.
Nodular or smooth pleural thickening with calcifications
EM: numerous, very long, slender microvilli and abundant tonofilaments joined together by desmosomes
Mesothelioma (from abestosis)
Migratory thrombophlebitis
=cancer (hypercoag very common paraneoplastic syndrome seen in adenocarcinoma of pancreas, colon, lung)
or small vessel hypersentivity type vasculitis
Trousseau syndrome: Superficial venous thromboses appear and disappear to appear elsewhere: redness and tenderness on palpitation of extremities
fat embolism
respi distress, non-focal neuro dusturbance, chest lesions consistent with thrombocytopenia after suffereing mutliple long bone fractures or liposuction, anemia!
**Fat **dislodges from bone marrow enter marrow vascular sinusoids and occlude microvessels
hypoxemia, neuro abnrmlities, petechial rash
Ethambutol
SE: optic neuritis
decreased visual acuity, central scotoma, color-blindness
(reversible)
Olser Weber Rendu
Telangiectasia, recurent epistaxis, skin discolorations , arteriovenous malformations, GI bleeding, hematuria
Hereditary hemorrhagic telangiectasia
Auto dominant
transmural inflammation with fibrinoid necrosis
polyarteritis nodosa
NOT in the LUNG
fever, abdominal pain, peripheral neuropathy, weakness, weight loss, muscualr aches and pains. Associated with Hepatitis B!!!!
Melanoma
malignancy of melanocytes derived from neural crest cells
can spread to CNS (manifest with seizures), GI, bone, liver, lungs.
mental retardation, eczema, mousy, musty body ordor
phenylketonuria (PKU)
autosomal recessive disease
mutation of phenylalnine hydroxylase or decrease in tetrahydrobiopterin cofactor
Tyrosine is essential
increase levels of phenylalanine, and increased levels of phenylketones in urine
avoid artificial sweetener (aspartame contains phenylalanine)
chediak higashi syndrome
auto recessive
immunodeficiency, albinism, neurologic defects, nystagmus
defect in neutrophil phagosome lysosome fusion
abnrml giant lysosomal inclusions!
dx in childhood
recurrent pyogenic infections due to Staph and Strep
pellagra
dermatitis, diarrhea, dementia
Dermatitis: bilateral and symmetric on sun-exposed areas, roughened, thickened, scaly
Diarrhea: columnar epithelium atrophy of GI
Dementia: 2ndary to neuroal degeneration in brain and spinal cord ~ pernicious anemia.
dermatitis herpetiformis
bilaterally, symmetrically on extensor surfaces ,elbows, knewws, upper back and buttocks
vesicular, pruritic papules and bullae
association to celiac disease
IgA and IgG antibodies agaisnt gliadin, cross react with reticulin
Spherocytes
small, round, without nrml central pallor
hereditary spherocytosis, autoimmune hemolytic anemia burns, un-fresh blood samples
Bite cells
G6PD deficiency
Splenic monocyte-macrophage system removes Heinz bodies from RBCs.
Target cells
HALT
HbC disease,
Asplenia,
Liver disease
Thalassemia
DVT, cerebral vein thrombosis, recurrent pregnancy loss
factor V leiden
mutation in factor V cant Protein C cant bind it anymore!!
ALso Va leiden in circulation increases thrombin release=>increasing coagulation
sickling promoted by
low oxygen levels, increased acidity, low blood volume (dehydration), high 2,3 DPG
stop codons
UAG, UAA, UGA
pancytopenia, arthritis, nephritis
SLE
low Hg, thrombocytopenia, absetn hemotopoietic cells in bone marrow
aplastic anemia
Cause:
Radiation and drugs (Benzene, chloramphenicol, alkylating agents, antimetabolites)
Viral Agents (Parcocirus B 19, EBV, HIV, HCV)
Fanconi anemia (DNA repair defect)
Idiopathic-may follow acute hepatitis
DIC vs TTP-HUS
DIC: Pt bleed, coagculation cascade is activated, PT and PTT are prolonged, low fibrinogen, icreased FDP
TTP-HUS: DO NOT BLEED, ONLY platelets are activated, nrml PT and PTT, nrml fibrinogen
celecoxib
cox 2 inhibitor
Heparin overdose
protamine sulfate (heparin antagonist)
Hemolytic uremic syndrome (HUS-TTP)
bloody diarrhea (Shiga toxin from EHEC O157:H7,undercooked ground beef)
Schistocytes, no plt, nrml PT and PTT
