classic presentations Flashcards
Abdominal pain, ascites, hepatomegaly
Budd chiari syndrome ( post hepatic venous thrombosis)
abdominal pain, diarrhea, leukocytosis, recent antibiotic use
C diff
achilles tendon xanthoma
Familial hypercholesterolemia (decreased LDL receptor signaling)
adrenal hemorrhage, hypotension, DIC
waterhouse-Friderchsen syndrome (meningococcemia)
Anaphylaxis following blood transfusion
IgA deficiency
anterior drawer sign
anterior cruciate ligament injury
arachnodactlyly, lens dislocation (upward), aortic dissection, hyperflexible joints
marfan syndrome (fibrillin defect)
Athlete with polycythemia
secondary to EPO injections
back pain, fever, night sweats
Pott disease (vertebral TB)
Bilateral acoustic schwannomas
NF-2
Bilateral hilar adenopathy, uveitis
sarcoidosis
black eschar on face of patient with DKA
Mucor or rhizopus infectgion
Blue sclera
osteogenesis imperfect (defect in type 1 collagen synthesis)
bluish line on gingiva
burton line lead poisoning
Bone pain, bone enlargement, arthritis
Paget disease of the bone (increased osteoblast and osteoclast activity
Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing
aortic regurgitation
butterfly rash and raynaud phenomenon in a young female
SLE
Cafe au lairt spots, Lish nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas.
NF-1
cafe-au lait spots (unilateral), Polyostotic fibrous dysplasia, precocious puberty, multiple endocribe abnormalaties
Mccune albright syndrome (mosaic G protein signaling mutation)
Calf psuedohypertrophy
muscular dystrophy (most commonly duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)
cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjuctivae and tongue, hand foot changes
kawasaki disease (treat with IVIG and aspirin)
cherry red spots on macula
Tay Sachs (GM2 ganglioside accumalation) or Nieman-pick disease (sphingomyelin accumalation).. central retinal artery occlusion
chest pain on exertion
Angina (stable: with moderate exertion;unstable: with minimal exertion or rest)
chest pain, pericardial effusion/friction rub, persistant fever following MI
Depending on time line fibrinous pericarditis 1-3 days post or dressler syndrome 2 weeks or more post Mi (Autoimmune mediated)
Chest pain with St depression of EKG
Unstable angina (negative troponins) or NSTEMI (positive troponins)
child uses arms to stand up from squat
Duchenne muscular dystrophy gower’s sign
child with fever later develops red rash on face that spreads to body
erythema infectiosum/fifth disease (slapped cheeks appearence, caused by parvo B19)
chorea, dimentia, caudate degeneration
Huntington disease. (autosomal dominant CAG repeat expansion)
chorioretinitis, hydrocephalus, intracranial calcifications
congenital toxoplasmosis
chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease (skeletal muscle glycogen phosphorylase deficiency)
Cold intolerance
Hypothyroidism
conjugate horizontal gaze palsy, horizontal diplopia
Internuclear opthalmoplegia (damage to MLF; may be unilateral or bilateral)
continuous machine like heart murmur
PDA
cutaneous/dermal edema due to connective tissue deposition
myxedema (caused by hypothyroidism, graves disease (pretibial))
cutaneous flushing, diarrhea, bronchospasm
carcinoid syndrome (right sided valvular lesion)
Dark purple skin/mouth nodules in a person with aids
kaposi sarcoma HHV-8
deep, labored breathing/ hyperventilation
kussmaul respirations in DKA
dermatitis, dementia, diarrhea
pellagra from a niacin (Vit B3 deficiency)
dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet berriberri vitamin B1 deficiency
Dog or cat bite resulting in infection
pasturella multicoda (cellulitis at infection site or may spread deeper causing osteomyelitis)
dry eyes, dry mouth, arthritis
sjoren syndrome (autoimmune destruction of exocrine gland)
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
plummer vinson syndrome (may progress to esophageal squamous cell carcinoma )
elastic skin, hyper mobility of joints, increased bleeding tendency
Ehlers-Danlos syndrome (type V collagen defect, Type III collagen defect seen in vascular subtype of ED)
Enlarged left supraclavivular node
virchow node (abdominal metastasis)
Episodic vertigo, Tinitus, hearing loss
Meniere disease
erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Mycosis fungoides (cutaneous T cell lymphoma ) or sezary syndrome (mycosis fungoides + malignant T cells in blood)
Facial muscle spasm upon tapping
chvostek sign (hypocalcemia)
Fat, female, forty, and fertile
cholelithiasis
fever, chills, headache, myalgia following antibiotic treatment for syphilis
jarisch Herxheimer RXN (rapid lysis of spirochetes results in endotoxin release)
fever, cough, conjuctivitis, coryza, diffuse rash
measles
Fever, night sweats, weight loss
B symptoms of lymphoma
Fibrous plaque in soft tissue of penis with abnormal curvature
Peyronie disease (connective tissue disease)
Golden brown rings around peripheral cornea
Wilson disease (kayser-Fleischer rings due to copper accumulation)
Gout, intellectual disability, self mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
harmatomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia
Peutz-Jeghers syndrome (inherited benign polyposis can cause bowel obstruction; increased cancer risk mainly GI)
Hepatomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crisis
Gaucher disease (glucocerebrosidase deficiency)
Heriditary nephritis, Sensineural hearing loss, cataracts
Alport syndrome (mutation in collagen IV)
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
Hyperreflexia, hypertonia, babinski sign present
UMN damage
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
hypoxemia, polycythemia, hypercapnia
Chronic bronchitis (hyperplasia of mucous cells “blue boater”)
Indurated, ulcerated genital lesion
nonpainful: chancre (primary syphilis, treponema pallidum)
Painful with exudate: chancroid (hemophilus ducreyi)
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
cinfant with hypoglycemia, hepatomegaly
Cori disease (debraching enzyme deficiency) or von Gierke disease (glucose 6 phosphatase deficiency, more severe)
Infant with microcephaly, rocker bottom feet, clenched hands and sructural heart defect
Edwards syndrome (trisomy 18)
Jaundice, palpable distended non-tender gallbladder
courvoiser sign (distal malignant obstruction of biliary tree)
large rash with bulls eye appearance
Erythema chronicum migrans from ixodes tick bite (Lyme disease borrelia)
Lucid interval after traumatic brain injury
epidural hematoma (middle meningeal artery rupture)
Male child, reccurent infections, no mature B cells
bruton disease (X-linked agammaglobulenemia)
mucosal bleeding and prolonged bleeding
glanzmann thrombasthenia (defect in platelet aggregation due to lack of GPIIb/IIIa)
Muffled heart sounds, distended neck veins, hypotension
beck triad of cardiac tamponade
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal alpha 1,4-glucosidase deficiency)
neonate with arm paralysis following difficult birth
Erb-duchenne palsy 9superior trunk {C5-C^}brachial plexus injury “waiter’s tip”
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction
Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia
M.S
painful blue fingers/toes, hemolytic anemia
cold agglutinin disease (autoimmune hemolytic anemia caused by mycoplasma pneumoniae, infectious mononucleosis, CLL)
painful fingers/toes changing color fro, blue to white to red with cold or stress
raynaud phenomenom (vasospasm in extremities)
painful, raised red lesions on pads of fingers/toes
osler nodes (infective endocarditis, immune complex deposition)
Painless eythematous lesions on the palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
painless jaundice
cancer of the pancreatic head obstructing bile duct
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
Pancreatic, pituitary, parathyroid tumors
Men 1 (autosomal dominant)
Periorbital and/or peripheral edema, proteinuria (>3.5g/day), hypoalbuminemia, hypercholesterolemia)
nephrotic syndrome
pink complexion, dyspnea, hyperventilation
emphysema (pink puffercentriacinar smoking or pan acinar alpha 1 trypsin deficiency
polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (multiple combined dysfunction of the proximal convuluted tubule)
Pruitic, purple, polygonal, planar papules and plauqes
Lichen planus
ptosis, miosis, anhidrosis
Horner Syndrome (sympathetic chain lesion)
Pupil accommodates but doesnt react
neurosyphilis (argyll robertson pupil
Rapidly progressive limb weakness that ascends following GI/ upper respiratory infection
Guillain Barre syndrome (acute inflammatory demyelinating polyradiculopathy subtype)
Rash on palms and soles
Coxsackie A, secondary syphilis, Rocky mountain spotted fever
reccurent cold (noninflammed) abscesses, unusual eczema, high serum IgE, coarse fascies, retained primary teeth
Hyper IgE syndrome (job sndrome neutrophil chemotaxis abnormality) (deficiency of Th17 due to STAT 3 mutation
red currant jelly sputum in alcoholic or diabetic patients
Klebsiella pneumoniae pneumonia
red currant jelly stools
Acute mesenteric ischemia (adults), intussusception (children)
Red Itchy swollen rash of nipple/ areola
paget disease of the breast (sign of underlying neoplasm
red urine in the morning, Fragile RBCs
Paroxysmal nocturnal hemoglobinuria
Renal cell carcinomas (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
Von hippel-lindau disease (dominant tumor suppressor gene mutation)
Resting tremor, rigidity, akinesia, postural instability, shuffling gait
parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
severe jaundice in neonate
crigler najjar syndrome (congenital unconjugated hyperbilirubinemia
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
Severe RLQ pain with deep tenderness
McBurney sign (acute appendicitis)
Short stature, cafe au lait spots, thumb/ radial defects, increase incidence of tumors/ leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA cross link repair; often progresses to AML)
single palmar crease
Down syndrome
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
skin hyperpigmentation, hypotension, fatigue
primary adrenocortical insufficiency (addison disease) causes increase ACTH and increase alpha MSH production
slow progressive muscle weakness in boys
becker muscular dystrophy (X-linked missense mutation in dysrophin; less severe than duchenne)
small, irregular red spots on buccal/lingual mucosa with blue white centers
koplik spots (measles [rubeola] virus)
smooth, moist, painless wart like white lesions on genitals
condylomata lata (secondary syphilis)
splinter hemorrhages in finger nails
bacterial endocarditis
strawberry tongue
scarlet fever, Kawasaki disease
streak ovaries, congenital heart disease, horseshoe kidney, cystic hydroma at birth, short stature, webbed neck, lymphedema
turner syndrome (45, XO)
sudden swollen/painful big toe joint, tophi
gout/podagra (hyperuricemia)
swollen gums, mucosal bleeding, poor wound healing, petechiae
scurvy (vitamin C deficiency: cant hydroxylate proline/ lysine for collagen synthesis)
swollen hard painful finger joints
osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP[herberden nodes]
systolic ejection murmur (crescendo decrescendo)
aortic stenosis
telangiectasias, reccurent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Osler-Weber-rendu syndrome
thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant RET mutation)
thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant RET mutation)
Toe extension/fanning upon plantar scape
babinski sign (UMN lesion)
Unilateral facial drooping involving forehead
LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead
urethritis, conjuctivitis, arthritis in a male
reactive arthritis associated with HLA-B27
vascular birthmark (port wine stain) of the face
Nevus flammeus (benign, but associated with sturge Weber syndrome)
vomiting blood following gastroesophageal lacerations
Mallory weiss syndrome (alcoholic and bulemic patients)
weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (tropheryma whipplei)
worst headache of my life
subarachnoid hemorrhage
increase in AFP in amniotic fluid
dating error, anencephaly, spina bifida (neural tube defects)
anticentromere antibodies
scleroderma (CREST)
anti-desmoglein (anti-desmosome)antibodies
pemphigus vulgaris
ant-glomerular basement membrane antibodies
Goodpasture syndrome (glomerulonephritis and hemoptysis
antihistone antibodies
drug induced SLE (hydralazine, isoniazid, phenytoin, procanimide)
Anti- IgG antibodies
rheumatoid arthritis (systemic inflammation, joint pannus, boutonniere deformity)
anti-mitochondrial antibodies
primary biliary cirrhosis (female, cholestasis, portal HTN)
ANCA
microscopic polyangiitis and eosinophilic granulomatosis with polyangiitis (ghurg strauss syndrome) (MPO ANCA/ p-ANCA); granulomatosis with polyangiitis (wegner; PR3-ANCA/c-ANCA)
antinuclear antibodies (ANAs: anti smith and anti-dsDNA
SLE ( type III hypersensitivity)
antiplatelet antibodies
idiopathic thrombocytopenic purpura
anti-topoisomerase antibodies
diffuse systemic scleroderma
anti-transglutaminase/anti-endomysial antibodies
celiac disease (diarrhea, weight loss)
apple core lesion on barium enema x-ray
colorectal cancer (usually left sided)
atypical lymphocytes
EBV
azurophilic peroxidase positive granular incusions in granulocytes and myeloblasts
Auer rods (AML, especially the promyelocytic [M3] type
Bacitracin response
sensitive is S. pyogenes resistant is S. agalactiae
bamboo spine on x-ray
Ankylosing spondylitis (chronic infammatory arthritis HLA-B27)
basophilic nuclear remnants in RBCs
howell jolly bodies (due to splenectomy or nonfunctional spleen)
Basophilic stippling of RBCs
Lead poisoning or sideroblastic anemia
Bloody or yellow tap on lumbar puncture
subarachnoid hemorrhage
Boot shaped heart on X-ray
tetralogy of fallot (due to RVH)
Branching gram positive rods with sulfur granules
actinomyces israeli. treat with penicillin
bronchogenic apical lung tumor on imaging
Pancoast tumor (can compress cervical symathetic chain and cause horner syndrome)
Brown tumor of Bone
Hyperparathyroidism or osteitis fibrosa cystica (deposited hemosiderin from hemorrhage gives brown color)
cardiomegaly with apical atrophy
Chagase disease (T cruzi)
Cellular cresencts in Bowman capsule
rapidly progressive crescentic glomerulonephritis
chocolate cysts of ovary
endometriosis (frequently involved both ovaries)
circular grouping of dark tumor cells surrounding pale neurofibrils
Homer-Wright rosettes (neuroblastoma, medulloblastoma)
colonies of mucoid psuedomonas in lungs
cystic fibrosis (autosomal recessive mutations in CFTR gene–> fat soluble vitamin deficiency and mucus plugs)
decreased AFP in amniotic fluid/maternal serum
Down syndrome or other chromosomal abnormalaties
degeneration of dorsal column fibers
Tabes dorsalis (tertiary syphylis), subacute combined degeneration (dorsal columns, lateral corticospinal, spinocerebellar tracts affected)
Delta wave on EKG, short PR interval, supraventricular tachycardia
Wolf-parkinson-white syndrome (Bundle of kent bypasses AV node)
depigmentation of neurons in substantia nigra
parkinson disease (basal ganglia disorder: rigidity, resting tremor, bradykinesia)
Desquamated epithelium casts in sputum
curshman spirals (bronchial asthma; can result in whorled mucous plugs)
minoxidil
direct arteriolar vasodilator;;
AE: andrigenic lopecia and severe refactory hypertension
Diazoxide
a potassium channel opener with hyperglycemic effects; used for emergency HTN
bivalirudin
directly inhibits free and clot associated thrombin;; can be used in HIT
clopidogrel, prasugrel, ticagrelor (reversible), ticlopidine
Inhibit platelet aggregation by irreversibly blocking ADP receptors. Prevent expression of glycoproteins IIb/IIIa on platelet surface.
Sjoren syndrome
Anti SSA (anti-ro), Anti ssB (anti La) are anti ribonuclear proteins. keratoconjunctivitis sicca, xerostomia, bilateral parotid enlargement and can lead to MALT lymphoma (B cell)
Disarrayed granulosa cells arranged around collections of eosinophilic fluid
call exner bodies (granulosa cell tumor of the ovary). can cause different presentations based on increased estrogen production in different age groups
dysplastic squamous cervical cells with raisinoid nuclei and hyper chromasia
Koilocytes (HPV: predisposes to cervical cancer)
electrical alternans (alternating amplitude on EKG)
pericardial tamponade
enlarged cells with intranuclear inclusion bodies
Owl eye appearance of CMV
Enlarged thyroid cells with ground glass nuclei with central clearing
orphan annie eyes nuclei – papillary carcinoma of the thyroid
eosinophilic cytoplasmic inclusion in liver cell
mallory body (alcoholic liver disease)
Eosinophilic cytoplasmic inclusion neuron
Lewy body (parkinson disease and lewy body dimentia) composed of alpha synuclein
eosinophilic globule in liver
councilman body (viral hepatitis, yellow fever), represents hepatocyte undergoing apoptosis
Eosinophilic inclusion bodies in cytoplasm of hippocampal and cerebellar neurons
negri bodies of rabies.
extracellular amyloid deposition in gray matter of brain
senile plaques (alzheimer disease)
Giant B cells with bilobed nuclei with prominent inclusions (owl’s eye)
Reed sternberg Cells (Hodgkin lymphoma)
Glomerulus like structure surrounding vessel in germ cells
Schiller duval bodies (yolk sac tumor)
Hair on end (crew cut appearance on X-ray
beta thalassemia, sickle cell disease (marrow expansion)
hCG elevated
choriocarcinoma, hydatidiform mole (occurs with and without embryo, and multiple pregnancy)
heart nodules granulomatous
Aschoff bodies (rheumatic fever)
Heterophile antibodies
infectious mononucleosis
hexagonal, double pointed, needle like crystals in bronchial secretions
bronchial asthma (charcot leyden crystals: eosinophilic granules)
high level of D dimers
DVT, PE, DIC
Hilar lymphadenopathy, peripheral granulomatous lesion in middle or lower lung lobes (can calcify)
Ghon complex (primary TB)
honey comb lung on X-ray or CT
interstitial pulmonary fibrosis
Hypercoagubility (leading to migrating DVTs and vasculitis)
Troissseau syndrome (adnocarcinoma of the lung or pancreas
Hypersegented neutrophils
Megaloblastic anemia (B12 deficiency: neurologic symptoms; folate deficiency no neurologic symptoms)
HTN, hypokalemia, metabolic alkolosis
primary aldosteronism (conn syndrome)
hypochromic microcytic anemia
iron deficiency anemia, lead poisoning, thalassemia
intranuclear eosinophilic droplet like bodies
cowdry type A bodies (HSV or VZV)
iron containing nodules in alveolar septum
ferriginous bodies (asbestosis: increases chance of mesothelioma)
keratin pearls on skin biopsy
squamous cell carcinoma
large granules in phagocytes immunodeficiency
chediak higashi disease (congenital failure of phagolysosome formation)
Lead pipe appearence of colon on abdominal imaging
Ulcerative colitis (loss of haustra)
linear appearence of IgG deposition on glomerular and alveolar basement membranes
Goodpasture syndrome
low serum ceruloplasmin
wilson disease (hepatolenticular degeneration)
lumpy bumpy appearence of glomeruli on IF
PSGN, (due to deposition of IgG, IgM, and C3)
Lytic punched out bone lesions on X-ray
Multiple myeloma
mammary gland (blue domed) cyst
Fibrocystic change of the breast
Monoclonal antibody spike
multiple myeloma (usually IgG or IgA) monoclonal gammopathy of undetermined significance (MGUS) waldenstrom (M protein= IgM) macroglobulinemia primary amyloidosis
mucin filled cell with peripheral nucleus
signet ring (gastric diffuse type carcinoma)
Narrowing of bowel lumen of barium X-ray
string sign (chron disease)
Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis
granulomatosis with poliangiitis (wegner, PR#-ANCA/c-ANCA) and goodpasture syndrome (anti-basement membrane antibodies)
needle shaped, negatively birefringent crystals
gout (monosodium crystals
nodular hyaline deposits in glomeruli
kimmestiel wilson nodules (diabetic nephropathy)
Novobiocin response
Sensitive: S epidermidis; resistant: S saprophyticus
“Nutmeg” appearance of liver
Chronic passive congestion of liver due to right heart failure or budd chiari syndrome
onion skin periostal reaction
ewing sarcomma
optochin response
s pneumoniae sensitive
s viridans resistant
Podocyte fusion or “effacement” on electron microscopy
Minimal change disease (child with nephrotic syndrome
Polished, “ivory-like” appearance of bone at cartilage erosion
Eburnation (osteoarthritis resulting in bony sclerosis
Protein aggregates in neurons from hyperphosphorylation of
tau protein
Neurofibrillary tangles (Alzheimer disease) and Pick bodies (Pick disease)
Psammoma bodies
Meningiomas, papillary thyroid carcinoma, mesothelioma,
papillary serous carcinoma of the endometrium and ovary
Pseudopalisading tumor cells on brain biopsy
Glioblastoma multiforme
Raised periosteum (creating a “Codman triangle”)
Aggressive bone lesion (eg, osteosarcoma, Ewing sarcoma,
osteomyelitis)
RBC casts in urine
Glomerulonephritis
Rectangular, crystal-like, cytoplasmic inclusions in Leydig cells
Reinke crystals (Leydig cell tumor)
Recurrent infections, eczema, thrombocytopenia
Wiskott-Aldrich syndrome
Renal epithelial casts in urine
Intrinsic renal failure (eg, ischemia or toxic injury)
Rhomboid crystals, ⊕ birefringent
Pseudogout (calcium pyrophosphate dihydrate crystals)
Rib notching (inferior surface, on x-ray)
Coarctation of the aorta
Ring-enhancing brain lesion on CT/MRI in AIDS
Toxoplasma gondii, CNS lymphoma
Sheets of medium-sized lymphoid cells with scattered pale,
tingible body–laden macrophages (“starry sky” histology
Burkitt lymphoma (t[8:14] c-myc activation, associated with EBV; “starry sky” made up of malignant cells)
Silver-staining spherical aggregation of tau proteins in
neurons
Pick bodies (Pick disease: progressive dementia, changes in personality)
“Soap bubble” in femur or tibia on x-ray
Giant cell tumor of bone (generally benign)
special because it occurs in the diaphysis
Spikes” on basement membrane, “dome-like” subepithelial
deposits
Membranous nephropathy (nephrotic syndrome)
Stacks of RBCs
Rouleaux formation (high ESR, multiple myeloma)
“Steeple” sign on frontal CXR
Croup (parainfluenza virus)
Stippled vaginal epithelial cells
“Clue cells” (Gardnerella vaginalis
Streptococcus bovis bacteremia
Colon cancer
“Tennis racket”-shaped cytoplasmic organelles (EM) in
Langerhans cells
Birbeck granules (Langerhans cell histiocytosis)
Thousands of polyps on colonoscopy
Familial adenomatous polyposis (autosomal dominant,
mutation of APC gene)
Thrombi made of white/red layers
Lines of Zahn (arterial thrombus, layers of platelets/RBCs)
“Thumb sign” on lateral neck x-ray
Epiglottitis (Haemophilus influenzae)
Thyroid-like appearance of kidney
Chronic pyelonephritis (usually due to recurrent infections)
“Tram-track” appearance of capillary loops of glomerular
basement membranes on light microscopy
Membranoproliferative glomerulonephritis
Triglyceride accumulation in liver cell vacuoles
Fatty liver disease (alcoholic or metabolic syndrome)
increased uric acid levels
Gout, Lesch-Nyhan syndrome, tumor lysis syndrome, loop
and thiazide diuretics
niacin
“Waxy” casts with very low urine flow
Chronic end-stage renal disease
WBC casts in urine
Acute pyelonephritis
WBCs that look “smudged”
CLL (almost always B cell)
“Wire loop” glomerular capillary appearance on light
microscopy
Diffuse proliferative glomerulonephritis (usually seen with
lupus
Yellowish CSF
Xanthochromia (eg, due to subarachnoid hemorrhage)s
absence seizure
ethosuximide
Acute gout attack
NSAIDs, colchicine, glucocorticoids
Acute promyelocytic leukemia (M3)
All-trans retinoic acid
ADHD
Methylphenidate, CBT, atomoxetine, guanfacine, clonidine
Alcoholism
Disulfiram, acamprosate, naltrexone, supportive care
Alcohol withdrawal
Long-acting benzodiazepines
Anorexia
Nutrition, psychotherapy, mirtazapine
Arrhythmia in damaged cardiac tissue
Class IB antiarrhythmic (lidocaine, mexiletine)
Benign prostatic hyperplasia
α1-antagonists, 5α-reductase inhibitors, PDE-5 inhibitors
Bipolar disorder
Mood stabilizers (eg, lithium, valproic acid, carbamazepine), atypical antipsychotics
Breast cancer in postmenopausal woman
Aromatase inhibitor (anastrozole)
Buerger disease
Smoking cessation
Bulimia nervosa
SSRIs
Candida albicans
Topical azoles (vaginitis); nystatin, fluconazole, caspofungin (oral/esophageal); fluconazole, caspofungin, amphotericin B
Carcinoid syndrome
Octreotide
Chlamydia trachomatis
Doxycycline (+ ceftriaxone for gonorrhea coinfection), erythromycin eye drops (prophylaxis in infants)
Chronic gout
Xanthine oxidase inhibitors (eg, allopurinol, febuxostat);
pegloticase; probenecid
Chronic hepatitis B or C
IFN-α (HBV and HCV); ribavirin, simeprevir, sofosbuvir
HCV
Chronic myelogenous leukemia
Imatinib
Clostridium botulinum
Antitoxin
Clostridium difficile
Oral metronidazole; if refractory, oral vancomycin or fidaxomicin if refactory
Clostridium tetani
Antitoxin
CMV
Ganciclovir, foscarnet, cidofovir
Crohn disease
Corticosteroids, infliximab, azathioprine
Cryptococcus neoformans
if systemic amphoteracin B and flucytosine and ketocanazole for maintenance
Cyclophosphamide-induced hemorrhagic cystitis
Mesna
Depression
SSRIs (first-line)
Diabetes insipidus
Desmopressin (central); hydrochlorothiazide, indomethacin,
amiloride (nephrogenic)
Diabetes mellitus type 1
Dietary intervention (low carbohydrate) + insulin replacement
Diabetes mellitus type 2
Dietary intervention, oral hypoglycemics, and insulin (if
refractory)
DKA
Fluids, insulin, K+
Drug of choice for anticoagulation during pregnancy
Heparin
Enterococci
Vancomycin, aminopenicillins/cephalosporins
Erectile dysfunction
Sildenafil, tadalafil, vardenafil
ER ⊕ breast cancer
Tamoxifen
Ethylene glycol/methanol intoxication
Fomepizole (alcohol dehydrogenase inhibitor)
Haemophilus influenzae (B)
Rifampin (prophylaxis)
Generalized anxiety disorder
SSRIs, SNRIs (first line); buspirone (second line)
Granulomatosis with polyangiitis (Wegener)
Cyclophosphamide, corticosteroids
Heparin reversal
Protamine sulfate
HER2/neu ⊕ breast cancer
Trastuzumab
Hyperaldosteronism
Spironolactone
Hypercholesterolemia
Statin (first-line)
Hypertriglyceridemia
Fibrate
Immediate anticoagulation
Heparin
Infertility
Leuprolide, GnRH (pulsatile), clomiphene
Influenza
Oseltamivir, zanamivir
Kawasaki disease
IVIG, high-dose aspirin
Legionella pneumophila
Macrolides (eg, azithromycin)
Long-term anticoagulation
Warfarin, dabigatran, rivaroxaban and apixaban
Malaria
Chloroquine, mefloquine, atovaquone/proguanil (for blood
schizont), primaquine (for liver hypnozoite)
Malignant hyperthermia
Dantrolene
Medical abortion
Mifepristone
Migraine
Abortive therapies (eg, sumatriptan, NSAIDs); prophylaxis (eg, propranolol, topiramate, CCBs, amitriptyline)
Multiple sclerosis
Disease-modifying therapies (eg, β-interferon, natalizumab);
for acute flares, use IV steroids
Mycobacterium tuberculosis
RIPE (rifampin, isoniazid, pyrazinamide, ethambutol)
Neisseria gonorrhoeae
Ceftriaxone (add doxycycline to cover likely concurrent
C trachomatis)
Neisseria meningitidis
Penicillin/ceftriaxone, rifampin (prophylaxis)
Neural tube defect prevention
prenatal folic acid
Osteomalacia/rickets
Vitamin D supplementation
Osteoporosis
Calcium/vitamin D supplementation (prophylaxis);
bisphosphonates, PTH analogs, SERMs, calcitonin,
denosumab (treatment)
Patent ductus arteriosus
Close with indomethacin; keep open with PGE analogs
Pheochromocytoma
α-antagonists (eg, phenoxybenzamine)
Pneumocystis jirovecii
TMP-SMX (prophylaxis and treatment in immunosuppressed
patients)
Prolactinoma
Cabergoline/bromocriptine (dopamine agonists)
Prostate adenocarcinoma/uterine fibroids
Leuprolide, GnRH (continuous
Prostate adenocarcinoma
flutamide
Pseudomonas aeruginosa
Antipseudomonal penicillins, aminoglycosides, carbapenems
Pulmonary arterial hypertension (idiopathic)
Sildenafil, bosentan, epoprostenol
Rickettsia rickettsii
Doxycycline, chloramphenicol
Schizophrenia (negative symptoms)
Atypical antipsychotics
Schizophrenia (positive symptoms)
Typical and atypical antipsychotics
SIADH
Fluid restriction, IV hypertonic saline, conivaptan/tolvaptan,
demeclocycline
Sickle cell disease
Hydroxyurea (increases fetal hemoglobin
Sporothrix schenckii
Itraconazole, oral potassium iodide
Stable angina
Sublingual nitroglycerin
Staphylococcus aureus
MSSA: nafcillin, oxacillin, dicloxacillin (antistaphylococcal
penicillins); MRSA: vancomycin, daptomycin, linezolid,
ceftaroline
Streptococcus bovis
Penicillin prophylaxis; evaluation for colon cancer if linked to
endocarditis
Streptococcus pneumoniae
Penicillin/cephalosporin (systemic infection, pneumonia),
vancomycin (meningitis)
Streptococcus pyogenes
Penicillin prophylaxis
Temporal arteritis
High-dose steroids
Tonic-clonic seizures
Levetiracetam, phenytoin, valproate, carbamazepine
Toxoplasma gondii
Sulfadiazine + pyrimethamine
Treponema pallidum
peniccilin
Trichomonas vaginalis
Metronidazole (patient and partner
Trigeminal neuralgia (tic douloureux)
Carbamazepine
Ulcerative colitis
5-ASA preparations (eg, mesalamine), 6-mercaptopurine,
infliximab, colectomy
UTI prophylaxis
TMP-SMX
Warfarin reversal
Fresh frozen plasma (acute), vitamin K (non-acute)
Actinic (solar) keratosis
Precursor to squamous cell carcinoma
Acute gastric ulcer associated with CNS injury
Cushing ulcer ( intracranial pressure stimulates vagal gastric H+ secretion)
Acute gastric ulcer associated with severe burns
Curling ulcer (greatly reduced plasma volume results in sloughing of gastric mucosa)
Age ranges for patient with ALL/CLL/AML/CML
ALL: child, CLL: adult > 60, AML: adult ∼ 65, CML: adult
45–85
Alternating areas of transmural inflammation and normal
colon
Skip lesions (Crohn disease)
Aortic aneurysm, abdominal
Atherosclerosis
Aortic aneurysm, ascending or arch
3° syphilis (syphilitic aortitis), vasa vasorum destruction
Aortic aneurysm, thoracic
Marfan syndrome (idiopathic cystic medial degeneration)
Aortic dissection
Hypertension
Atrophy of the mammillary bodies
Wernicke encephalopathy (thiamine deficiency causing ataxia, ophthalmoplegia, and confusion)
Autosplenectomy (fibrosis and shrinkage)
Sickle cell disease (hemoglobin S)
Bacteria associated with gastritis, peptic ulcer disease, and gastric malignancies (eg, adenocarcinoma, MALToma)
H pylori
Bacterial meningitis (adults and elderly)
S pneumoniae
Bacterial meningitis (newborns and kids)
Group B streptococcus/E coli (newborns),
S pneumoniae/N meningitidis (kids/teens)
Bilateral ovarian metastases from gastric carcinoma
Krukenberg tumor (mucin-secreting signet ring cells)
Bleeding disorder with GpIb deficiency
Bernard-Soulier syndrome (defect in platelet adhesion to von
Willebrand factor)
Brain tumor (adults)
Supratentorial: metastasis, astrocytoma (including
glioblastoma multiforme), meningioma, schwannoma
Brain tumor (kids)
Infratentorial: medulloblastoma (cerebellum) or
supratentorial: craniopharyngioma
Breast cancer
Invasive ductal carcinoma
Breast mass
Fibrocystic change, carcinoma (in postmenopausal
women)
Breast tumor (benign, young woman)
Fibroadenoma
Cardiac 1° tumor (kids)
Rhabdomyoma, often seen in tuberous sclerosis
Cardiac manifestation of lupus
Marantic/thrombotic endocarditis (nonbacterial)
Cardiac tumor (adults)
Metastasis, myxoma (90% in left atrium; “ball and valve”)
Cerebellar tonsillar herniation
Chiari II malformation
Chronic arrhythmia
Atrial fibrillation (associated with high risk of emboli)
Chronic atrophic gastritis (autoimmune)
Predisposition to gastric carcinoma (can also cause pernicious
anemia)
Clear cell adenocarcinoma of the vagina
DES exposure in utero
Congenital adrenal hyperplasia, hypotension
21-hydroxylase deficiency
Congenital cardiac anomaly
VSD
Congenital conjugated hyperbilirubinemia (black liver)
Dubin-Johnson syndrome (inability of hepatocytes to secrete
conjugated bilirubin into bile)
Constrictive pericarditis
TB (developing world); idiopathic, viral illness (developed
world)
Coronary artery involved in thrombosis
LAD > RCA > circumflex
Cretinism
Iodine deficit/congenital hypothyroidism
Cushing syndrome
- Iatrogenic (from corticosteroid therapy)
- Adrenocortical adenoma (secretes excess cortisol)
- ACTH-secreting pituitary adenoma (Cushing disease)
- Paraneoplastic (due to ACTH secretion by tumors
Cyanosis (early; less common)
Tetralogy of Fallot, transposition of great vessels, truncus
arteriosus
Death in CML
Blast crisis
Death in SLE
Lupus nephropathy
dementia
Alzheimer disease, multiple infarcts vascular dimentia
Demyelinating disease in young women
Multiple sclerosis
DIC
Severe sepsis, obstetric complications, cancer, burns, trauma,
major surgery, acute pancreatitis, APL
Diverticulum in pharynx
Zenker diverticulum (diagnosed by barium swallow
Ejection click
Aortic stenosis
Esophageal cancer
Squamous cell carcinoma (worldwide); adenocarcinoma (US)
Food poisoning (exotoxin mediated)
S aureus, B cereus
Gastric cancer
Adenocarcinoma
intestinal vs diffuse type
Glomerulonephritis (adults)
Berger disease (IgA nephropathy)
Gynecologic malignancy
Endometrial carcinoma (most common in US); cervical carcinoma (most common worldwide)
Heart murmur, congenital
Mitral valve prolapse
Heart valve in bacterial endocarditis
Mitral > aortic (rheumatic fever), tricuspid (IV drug
abuse)
Helminth infection (US)
Enterobius vermicularis, Ascaris lumbricoides
Hematoma—epidural
Rupture of middle meningeal artery (trauma; lentiform
shaped)
Hematoma—subdural
Rupture of bridging veins (crescent shaped)
Hemochromatosis
Multiple blood transfusions or hereditary HFE mutation
(can result in heart failure, “bronze diabetes,” and risk of
hepatocellular carcinoma)
Hepatocellular carcinoma
Cirrhotic liver (associated with hepatitis B and C and with alcoholism)
Hereditary bleeding disorder
von Willebrand disease
Hereditary harmless jaundice
Gilbert syndrome (benign congenital unconjugated hyperbilirubinemia)
HLA-B27
Psoriatic arthritis, ankylosing spondylitis, IBD-associated
arthritis, reactive arthritis (formerly Reiter syndrome)
HLA-DR3
Diabetes mellitus type 1, SLE, Graves disease, Hashimoto
thyroiditis, Addison disease
HLA-DR4
Diabetes mellitus type 1, rheumatoid arthritis, Addison
disease
Holosystolic murmur
VSD, tricuspid regurgitation, mitral regurgitation
Hypercoagulability, endothelial damage, blood stasis
Virchow triad (increased risk of thrombosis)
Hypertension, 2°
Renal artery stenosis, chronic kidney disease (eg, polycystic
kidney disease, diabetic nephropathy), hyperaldosteronism
Hypoparathyroidism
Accidental excision during thyroidectomy
Hypopituitarism
Pituitary adenoma (usually benign tumor), sheehan syndrome, empty sella syndrome, pituitry apoplexy..
Infection 2° to blood transfusion
Hepatitis C
Infections in chronic granulomatous disease
S aureus, E coli, Aspergillus (catalase ⊕), candida, B cepacia…
Intellectual disability
Down syndrome, fragile X syndrome
Kidney stones
- Calcium = radiopaque
- Struvite (ammonium) = radiopaque (formed by urease
⊕ organisms such as Klebsiella, Proteus species, and
S saprophyticus) - Uric acid = radiolucent
- Cystine = radiolucent
Late cyanotic shunt (uncorrected left to right becomes right
to left)
Eisenmenger syndrome (caused by ASD, VSD, PDA; results in pulmonary hypertension/polycythemia)
Liver disease
Alcoholic cirrhosis
Lysosomal storage disease
Gaucher disease
Male cancer
Prostatic carcinoma
Malignancy associated with noninfectious fever
Hodgkin lymphoma
Malignancy (kids)
ALL, medulloblastoma (cerebellum
Metastases to bone
Prostate, breast > lung > thyroid
Metastases to brain
Lung > breast > genitourinary > melanoma > GI
Metastases to liver
Colon»_space; stomach, pancreas
Microcytic anemia
Iron deficiency
Mitochondrial inheritance
Disease occurs in both males and females, inherited through
females only
Mitral valve stenosis
Rheumatic heart disease
Mixed (UMN and LMN) motor neuron disease
Amyotrophic lateral sclerosis
Myocarditis
Coxsackie B
Nephrotic syndrome (adults)
Focal segmental glomerulosclerosis
Nephrotic syndrome (kids)
Minimal change disease
Neuron migration failure
Kallmann syndrome (hypogonadotropic hypogonadism and anosmia
Nosocomial pneumonia
S aureus, Pseudomonas, other enteric gram ⊝ rods
Obstruction of male urinary tract
BPH
Opening snap
Mitral stenosis
Opportunistic infection in AIDS
Pneumocystis jirovecii pneumonia
Osteomyelitis
S aureus (most common overall)
Osteomyelitis in sickle cell disease
Salmonella
Osteomyelitis with IV drug use
Pseudomonas, Candida, S aureus
Ovarian tumor (benign, bilateral)
Serous cystadenoma
Pancreatitis (acute)
Gallstones, alcohol
Pancreatitis (chronic)
Alcohol (adults), cystic fibrosis (kids)
Pelvic inflammatory disease
C trachomatis, N gonorrhoeae
Philadelphia chromosome t(9;22) (BCR-ABL)
CML (may sometimes be associated with ALL/AML)
Pituitary tumor
Prolactinoma, somatotropic adenoma
1° amenorrhea
Turner syndrome (45,XO or 45,XO/46,XX mosaic)
1° bone tumor (adults)
Multiple myeloma
1° hyperaldosteronism
Adenoma of adrenal cortex
1° hyperparathyroidism
Adenomas, hyperplasia, carcinoma
1° liver cancer
Hepatocellular carcinoma (chronic hepatitis, cirrhosis, hemochromatosis, α1-antitrypsin deficiency, Wilson disease)
Pulmonary hypertension
Idiopathic, heritable, left heart disease (eg, HF), lung disease
(eg, COPD), hypoxemic vasoconstriction (eg, OSA),
thromboembolic (eg, PE)
Recurrent inflammation/thrombosis of small/medium vessels
in extremities
Buerger disease (strongly associated with tobacco)
Refractory peptic ulcers and high gastrin levels
Zollinger-Ellison syndrome (gastrinoma of duodenum or
pancreas), associated with MEN1
Renal tumor
Renal cell carcinoma: associated with von Hippel-Lindau and
cigarette smoking; paraneoplastic syndromes (EPO, renin,
PTHrP, ACTH)
Right heart failure due to a pulmonary cause
Cor pulmonale
S3 heart sound
increased ventricular filling pressure (eg, mitral regurgitation, HF),
common in dilated ventricles
S4 heart sound
Stiff/hypertrophic ventricle (aortic stenosis, restrictive
cardiomyopathy)
2° hyperparathyroidism
Hypocalcemia of chronic kidney disease
Sexually transmitted disease
C trachomatis (usually coinfected with N gonorrhoeae)
SIADH
Small cell carcinoma of the lung
Site of diverticula
Sigmoid colon
Sites of atherosclerosis
Abdominal aorta > coronary artery > popliteal artery
> carotid artery
t(14;18)
Follicular lymphomas (BCL-2 activation, anti-apoptotic oncogene)
t(8;14)
Burkitt lymphoma (c-myc fusion, transcription factor oncogene)
t(9;22)
Philadelphia chromosome, CML (BCR-ABL activation,
tyrosine kinase oncogene)
Temporal arteritis
Risk of ipsilateral blindness due to occlusion of ophthalmic
artery; polymyalgia rheumatica
Testicular tumor
Seminoma (malignant, radiosensitive), increased placental ALP
Thyroid cancer
Papillary carcinoma (childhood irradiation)
Tumor in women
Leiomyoma (fibroids)(estrogen dependent, not precancerous)
Tumor of infancy
Strawberry hemangioma (grows rapidly and regresses spontaneously by childhood)
Tumor of the adrenal medulla (adults)
Pheochromocytoma (usually benign)
Tumor of the adrenal medulla (kids)
Neuroblastoma (malignant)
Type of Hodgkin lymphoma
Nodular sclerosing (vs mixed cellularity, lymphocytic predominance, lymphocytic depletion)
Type of non-Hodgkin lymphoma
Diffuse large B-cell lymphoma
UTI
E coli, Staphylococcus saprophyticus (young women)
Vertebral compression fracture
Osteoporosis (type I: postmenopausal woman; type II: elderly
man or woman)
Viral encephalitis affecting temporal lobe
HSV-1
Vitamin deficiency (US)
Folate (pregnant women are at high risk; body stores only 3- to
4-month supply; prevents neural tube defects)
congenital rubella
classic triad of eye (cataract), ear (deadness), and congenital heart disease (PDA, pulmonary stenosis.
blueberry muffin rash
congenital CMV
hearing loss, seizures, petechial rash(blueberry muffin), periventricular calcifications.
congenital syphilis
often results in stillbirth, hydrops fetalis, if child survives presents with facial (notched teeth, saddle nose, short maxilla), saber shins, CN VIII deafness
sofosbuvir vs simepevir
both used for HCV. inhibits RNA dependent RNA Pol acting as chain terminator (NS5B) vs HCV protease inhibitor
Infant of a diabetic mother
transposition of the great vessels, caudal regression syndrome
williams syndome
microdeletion of long arm of chromosome 7. elfin facies hypercalcemia intellectual disability extreme friendliness to strangers supravalvular aortic stenosis
restrictive/infiltrative cardiomyopathy
sarcoidosis, amyloidosis, postradition fribrosis endocardial fibroelastosis (thick fibroelastic tissue in endocardium of young children) Loffler syndrome (endomyocardial fibrosis with a prominent eosinophilic infiltrate)
diastolic dysfunction ensues. can have a low voltage ECG despite thick myocardium
Hypertrophic cardiomyopathy
hereditary cases involve beta-myosin heavy chain… can be associated with friedrich ataxia.
golden cytoplasmic granules in macrophages that turn blue with prussian blue staining
hemosiderin laden macrophages
IVDU with sudden pulmonary symptoms
bacterial endocarditis septic emboli from tricuspid valve into lung
Pulmonary capillary wedge pressure in cardiogenic shock due to left heart failure vs right
in left PCWP is increased in right PCWP is decreased
dystrophic calcification
considered a hallmark of cell injury and death occuring in all types of necrosis in the setting of normal calcium lvls
cytokine involved in Giant cell (temporal) arteritis
IL-6 appears to closely correlate with the severity of the disease
tocilizumab
IL-6 monoclonal antibody
polyarteritis nodosa
typically involves renal and visceral vessels, not pul arteries
immune complex mediated
transmural inflammation of the arterial wall with fibrinoid necrosis
different stages of inflammation may coexist in different vessels.
henoch schonlein purpura
most common childhood systemic vasculitis. often follows URI. triad: skin-palpable purpura on buttocks/legs arthralgias GI:abdominal pain
tesamorelin
GHRH analog used to treat HIV associated lipodistrophy
fronto temporal dementia
early changes in personality and behavior or aphasia
may have associated movement disorders
frontal temporal lobe degeneration
inclusions of hyperphosphorylated tau or ubiquitinated TDP-43
lewy body dementia
initially dementia and visual hallucinations followed by parkinsonian features
intracellular lewy bodies
osmotic demyelination syndrome
massive axonal demyelination in pontine white matter. secondary to osmotic changes–> overly rapid correction of hyponatremia
cerebral edema
correction of hypernatremia too quickly
agents used to treat MS
glatiramer- mix of 4 amino acids which are antigenically similar to myelin basic protein
natalizumab- antibody against the alpha-4 subunit of intergrin molecules. limits adhesion and transmigration
IV corticosteroids.
baclofen-Gaba b receptor agonist for spasticity.
acute disseminated (postinfectious) encephalomyelitis
multifocal periventricular inflammation and demyelination after infection or vaccination. presents with rapidly progressive multifocal neurologic symptoms, AMS.
Charcot marie tooth disease (heriditary motor and sensory neuropathy)
defective production in the proteins involved in the structure and function of peripheral nerves or the myelin sheath.
autosomal dominant
associated with foot deformities (pes cavus), lower extremity weakness and sensory deficits.
natalizumab and rituximmab increase risk of
Progressive multifocal leukoencephalopathy
adrenoleukodystrophy
X-linked genetic disorder typically affecting males. disrupts metabolism of very long fatty acids–> excessive buildup in nervous system adrenal glands testes. progressive disease that can lead to longterm coma/death and adrenal crisis
tuberous sclerosis
harmatomas of in CNS and skin angiofibromas mitral regurg ash leaf spots rhabdomyoma autosomal dominant mental retardation renal angiolipomas seizures and shagreen patches increased incidence of subependymal astrocytomas and ungual fibromas.
neurofibromin
negative regulator of RAS. mutated in NF-1
chromosome 17
von hippel lindau disease
hemangioblastomas
angiomatosis
bilateral RCCs
pheochromocytomas.
middle cerebral artery
contralateral paralysis and sensory loss- face and upper limb
aphasia if in dominant (usually left) hemisphere.
hemineglect if in non dominant.
anterior cerebral artery
contralateral sensory loss lower limb.
also most common location for a berry aneurysm in the CNS is at intersection with Acomm can lead to bitemporal hemianopsia
lenticulostriate artery
contralateral paralysis and or sensory loss- face and body.
absence of cortical signs
common location of lacunar infarcts, secondary to unmanaged HTN.
anterior spinal artery
contralateral paralysis of upper and lower limbs.
decreased contralateral proprioception
ipsilateral hypoglossal dysfunction (tongue deviates ipsilaterally)
medial medullary syndrome
Posterior inferior cerebellar artery
vomiting, vertigo nystagmus (vestibular nuclei)
decreased pain and temperature sensation from ipsilateral face and contralateral body
dysphagia, hoarseness and decreased gag reflex
ipsilateral horner syndrome
ataxia dysmetria
nucleus ambiguus effects are specific to PICA lesions.
anterior inferior cerebellar artery
vomiting vertigo nystagmus
paralysis of face, decreased lacrimation, salivation and decreased taste from anterior 2/3s of mouth
ipsilateral decrease in pain and temp of the face, contralateral decreased pain and temp of the body
ataxia dysmetria
facial droop means AICAs pooped
basillar artery
locked in syndrome
preserved conciousness, vertical eye movement, blinking,
quadraplegia, loss of voluntary facial, mouth, and tongue movements.
reticular formation is spared
central post stroke pain syndrome
neuropathic pain due to thalamic lesions. initial paresthesias followed in weeks to months by allodynia.
lacunar infarctions
result of small vessel occlusion (due to lipohyalinosis and microatheroma formation) in the penetrating vessels supplying the deep brain structures.
neonatal interventricular hemorrhage
usually occurs in the fragile germinal matrix
prevent vasospasm 4-10 after SAH with
nimodipine
red neurons
12-48 hours after ischemic event
necrosis + neutrophils in brain matter
24-72 hrs post ischemic event
macrophages in brain post ichemic event
3-6 days
reactive gliosis + vascular proliferation timeline
1-2 weeks. closer to 2 weeks.
risk factors for idiopathic intracranial HTN (psuedotumor cerebri)
woman of childbearing age, Vitamin A excess, danazol and tetracycline
Liposarcoma
soft tissue malignancy. contain numerous lipoblasts, which are cells that produce non membrane bound cytoplasmic lipid. this well demarcated lipid shifts within the cell causing nuclear indentation and scalloping of the nuclear membrane.
Meckel diverticulum
derived from the omphalomesenteric (vitelline) duct which connects the midgut to yolk sac
most common congenital abnormality of the small intestine.
heterotopic gastric mucosa or pancreatic tissue may be seen .
anemia can occur due to brisk but painless lower GI bleeding.
complications such as volvulus, intussusception or obstruction can occur which would be painful
volvulus
presents with billious emesus, abdominal pain, and bloody stools.
increased incidence in people with malrotation
intussusception
the proximal portion of the bowel telescopes into the distal portion. may present with severe intermittent abdominal pain, vomiting, bloody stools and palpable abdominal mass.
lynch syndrome
Genes: MSH2, MLH1, MSH6, and PMS2
associated neoplasms: colorectal cancer, endometrial cancer, ovarian cancer
Familial adenomatous polyposis
gene: APC
associated neoplasms: colorectal cancer, desmoids and osteomas, brain tumors
Li fraumeni syndrome
Sarcomas breast cancer brain tumors adrenocortical carcinoma leukemia
Calcineurin inhibitors
tacrolimus and cyclosporine.
cause nephrotoxicity that is dose related and manifests as a rise in serum BUN and creatinine levels as well as increased BP
the above is thought to be a result of afferent and efferent arteriolar vasoconstriction leading to systemic HTN. and long term use can also lead to obliterative vasculopathy, tubular vacuolization and glomerular scarring
Tamm-horsfall glycoprotein
exclusively secreted by renal tubular epithelial cells of the ascending limb of the loop of henle.
foam stability test
index evaluates surfactant functionality.
or
lecithin:sphingomyelin ratio >2
Marfan syndrome
autosomal dominant
normal intellect
aortic root dilation
upward lens dislocation
homocystinuria
Autosomal recessive intellectual disability thrombosis downward lens dislocation megaloblastic anemia fair complexion
heparin vs warfarin use in pregnancy
heparin is more water soluble.
Bowel epithelial stem cells are located in
crypts of lieberkuhn.
spherical nodues within the confines of sibrous septa in liver cirrhosis
regenerative spherical nodules of proliferating hepatocytes.
stellate (ito) cells
store vitamin A and support the sinusoids. can differentiate into a myofibroblast upon injiry to the liver and plays a large role in the production of fibrosis in cirrhosis
cystic hygromas
commonly associated with chromosomal aneuploidy. manifest as soft, compressible masses that transilluminate. they are most commonly found on the head and neck and typically on the left side.
Musculoskeletal causes of lower back pain.
Mechanical (muscel strain)-normal neuro exam and paraspinal tenderness
radiculopathy- radiation below the knee, positive straight leg raise, neuro deficits.
spinal stenosis- psuedoclaudication relieved by leaning forward.(old man leaning on shopping cart or stroller)
compression fracture- osteoporosis
Malignant causes of lower back pain
metastatic cancer - age > 50
worse at night.
not relieved with stress
infectious causes of lower back pain
osteomyelitis, discitis, abscess- recent infection or IVDU
fever spine tenderness
tardive kinesis
commonly associated with long term use of first generation antipsychotic meds.
involuntary movements include rhythmic movements of the face, lips, and tongue.
mechanism is believed to be upregulation of postsynaptic dopamine receptors due to longterm blockade leading to supersensitivity.
saddle pulmonary embolus central venous pressure, cardiac output and SVR
increase in CVP, decrease in CO and increase SVR
xerosis
itchy rash and dry cracked skin.common in older patients during the winter months when indoor heaters lower the relative humidity of the ambient air.
these patients usually have defects in the stratum corneum permeability barrier.
Cough syncope
typically occurs in overweight overweight male patients with COPD.
increased intrathoracic pressure during a coughing episode decreases venous return to the heart thereby transiently decreasing cardiac outputand cerebral perfusion.
composition of fleshy skin nodules in NF-1 aka neurofibromas
schwann cells.
the nodules are known as neuro fibromas
primary ovarian insufficiency
amenorrhea in women age <40 with eevated gonadotropins (FSH) and low estrogen levels. the pathophysiology is likely inadequate supply of ovarian follicles or a premature depletion of these follicles.
–apoptosis
agglutination inhibition reactions
competition between soluble antigens and particle affixed antigens for antibody binding sites.
complications of stent placement
scute stent thrombosis and restonosis due to intimal hyperplasia.
drug coated stents have reduced both of these complications. paclitaxel for intimal hyperplasia.
Ornithine transcarbamyolase deficiency
result in accumalation of carbomyl phosphate which is converted to orotic acid by the pyrimidine biosynthetic pathway and congenital hyperammonemia
Carbamoyl phosphate I synthetase deficiency
severe hyperammonemia and neurological damage.
endocrine hormones that increase cAMP
FLAT ChAMP:
FSH, LH, ACTH, TSH, CRH, hCH, ADH(V2 receptor), MSH, PTH,
calcitonin, GHRH
endocrine hormones that increase IP3
GOAT HAG:
GnRH, oxytocin, ADH (V1), TRH, Histamine (H1), angiotensin II, Gastrin
endocrine hormones that activate nonreceptor tyrosine kinase
PIGGLET
prolactin, immunomodulators (cytokines), GH, G-CSF, erythropoeitin, and thrombopoetin
primary vs secondary/tertiary adrenal insufficiency cortisol and ACTH levels
primary decreased cortisol and increased ACTH
secondary decreased cortisol and ACTH.
primary adrenal insufficiency
hypotension (hyponatremic volume contraction), hyperkalemia, metabolic acidosis skin and mucosal hyperpigmentation .
secondary adrenal insufficiency
decreased pituitary ACTH production, no skin/mucousal hyperpigmentation, no hyperkalemia (aldosterone synthesis preserved).
tertiary adrenal insufficiency
seen in patients with chronic exogenous steroid use; precipitated by abrupt withdrawal. aldosterone synthesis unaffected.
hyperaldosteronism clinical features
HTN, decreased or normal K+, metabolic alkalosis, (no edema due to aldosterone escape mechanism).
neuroblastoma
most common tumor of the adrenal medulla in children
originates from neural crest cells.
presents as abdominal distention and a firm, irregular mass that can cross the midline
can present with opsoclonus myoclonus syndrome
increase HVA and VMA in urine,
homer wright rossettes
bombesin and NSE positive.
associated with over expression of N-myc.
riedel thyroiditis
thyroid replaced by fibrous tissue with inflammatory infiltrate. fibrosis may extend into local structures mimicking anaplastic carcinoma.
1/3 are hypothyroid.
considered a manifestation of IgG4 related systemic disease (autoimmune pancreatitis, retroperitoneal fibrosis, nininfectious aortitis)
fixed hard painles goiter
infiltrative opthalmpathy
edema and infiltration of lymocytes into the extraocular muscles and connective tissue. retroorbial fibroblaasts thatn stimulated by cytokines
Jod basedow phenomenom
thyrotoxicosis if a patient with iodine deficiency becomes iodine replete
associations of thyroid cancers:
papillary
follicular
medullary
papillary- orphan annie eyes and increased risk with RET and BRAF mutations.
follicular- uniform follicles. hematogenous spread common Ras mutations
medullary- sheets of cells in amyloid stroma. MEN2a and 2b.
psuedohypoparathyroidism
albright hereditary osteodystrophy.
unresponsive kidney to PTH.
defective Gs protein alpha subunit
short stature and sortened 4th and 5th digits.
brown bown tumor in osteitis fibrosa cystica consists of
osteoclasts and deposited hemosiderin from hemorrhages.
glucagonoma
tumor of pancreatic alpha cells. presents with dermatitis (necrolytic migratory erythema), diabetes, DVT, declining weight, depression
carcinoid syndrome
neuroendocrine cells. prominent rossettes.
secrete serotonin.
if mets to liver results in diarrhea, cutaneous flushing, asthmatic wheezing, right sided valvular heart disease (tricuspid regurg, pulm stenosis)
increased 5-HIAA in urine, niacin deficiency
alpha 1 receptors
act through Gq.
increase vascular smooth muscle contraction
increase pupillary dilator muscle contraction (mydriasis), increase intestinal and bladder sphincter muscle contraction.
alpha 2
act through Gi. decrease sympathetic (adrenergic) outflow decrease insulin release decrease lipolysis increase platelet aggregation decrease acqueous humor production
beta 1
act through Gs increase heart rate increase contractility increase renin release increase lipolysis
beta 2
act through Gs vasodilation bronchodilation increase lipolysis increase insulin release decrease uterine tone (tocolysis) ciliary muscle relaxation increase aqueous humor production
beta 3
acts through Gs
increase lipolysis.
increase thermogenesis in skeletal muscle.
M1
Gq
CNS, enteric Nervous system
M2
Gi
decrease heart rate and contractility of atria.
M3
Gq
increase exocrine gland secretions (lacrimal, sweat, salivary, gastric acid), increase gut peristalsis, increase bladder contraction, bronchoconstriction, increase pupillary sphincter muscle contraction (miosis), ciliary muscle contraction.
D1
Gs
relaxes renal vascular smooth muscle
D2
Gi
modulates transmitter release, especially in brain
H1
Gq
increases nasal and bronchial mucus production
increases vascular permeability
H2
Gs
increases gastric acid secretion
V1
Gq
increases vascular smooth muscle contraction
V2
increases h20 permeability and reabsorption in collecting tubules of kidney (V2 is found in the 2 kidneys).
heterochromatin
condensed. appears darker in EM, transcriptionally inactive sterically in accesible barr bodies. heterochromatin=highly condensed
euchromatin
less condensed. transcriptionally active
Telomerase
reverse transcriptase (RNA dependent) tha to the 3’end. it lengthens telemores by adding TTAGGG
purines vs pyrimidines
purines 2 rings. pyrimidine 2 rings.
deamination of cytosine makes uracil
thymidine has a methyl
disrupt pyrimidine synthesis
leflunomide, MTX, trimethoprim, pyrimethamine and 5-Fu
dusrupt purine synthesis
6-MP, mycophenolate and ribavirin
stop codons
UGA
UAG
UAA
start codon
AUG. is methionine.
nucleotide excision repair.
repair pyrimidine dimers.
endonuclease release oligonucleotides and DNA polymerase and ligase fill and reseal the gap
predominantly occurs in G1
base excision repair
important in repair of spontaneous/toxic deamination
base specific glycosylase removes altered base. AP endonucleus and lyase cleave 5’ and 3’ sides respectively. DNA pol beta fills in gap and DNA ligase seals it
occurs throughout cell cycle.
Mismatch match repair
occurs predominantlyin G2
RNA pol I
RNA pol II
RNA pol III
rRNA
mRNA
tRNA and 5s rRNA.
alpha amantin
found in amnita phalloides (death cap mushrooms). inhibits RNA pol II.
causes severe hepatotoxicity if ingested.
Actinomycin D
inhibits RNA pol in both prokaryotes and eukaryotes
anti-U1 RNP antibodies
mixed connective tissue disease
intron splice sites
5’ GU 3’AG
microRNAs
small, noncoding RNA molecules that post transcriptionally regulate protein expression. introns can contain miRNAs
energy use in tRNA charging vs translocation in protein synthesis
ATP in tRNA charging and GTP in protein translation
what catalyzes the peptide bond in the ribosome between amino acids
ribozyme
shortest phase of the cell cycle
M phase.
signal recognition particle
abundant cytosolic ribonucleoprotein that traffics from the ribosome to the RER. absent or dysfunctional SRP–> proteins accumalate in the cytosol.
microfilaments
muscle contraction cytokinesis
actin microvilli
intermediate filaments
maintain cell structure
i.e vimentin, desmin, cytokeratin, lamins, glial fibrillary acid proteins, neurofilaments.
microtubules
movement. cell division.
oubain
inhibits binding to K+ site on Na+/K+ atpase
type 1 collagen
bone, skin, tendon, dentin, cornea, late wound repair.
decreased production in osteogenesis imperfecta type I
type II collagen
cartilage, vitreous body, nucleus pulpus.
type III collagen
reticulin- skin, blood vessels, uterus, fetal tissue, granulation tissue
deficient in the uncommon vascular type ehlors danlos
type Iv collagen
basement membrane, basal lamina, and lens
defective in alport syndrome
autoantibodies in good pasture.
requirements and defects in the hydroxylation, glycosylation and cross linking of collagen
hydroxylation- requires vitamin C (deficiency leads to scurvy)
glycosylation- formation of procollagen via hydrogen and disulfide bonds (triple helix of 3 collagen alpha chains)
problems forming triple helix osteogensis imperfecta.
cross linking- reinforcement of many staggered tropocollagen molecules by covalent lysine-hydroxylysine cross linkage. (by copper containing lysyl oxidase) problems lead to ehlers danlos and menkes disease
blue sclarae, hearing loss and multiple fractures.
osteogensis imperfecta
COLA1 and COLA2
autosomal dominant most common.
bone matrix formation issue
pleiotropy
one gene contributes to multiple phenotypic effects.
uniparenty disomy: hetero disomy vs isodisomy
hetero implies miosis one defect
iso meiosis II
myotonia, muscle wasting, cataracts, frontal balding, testicular atrophy and arrhythmias
autosomal dominant myotonic type 1 CTG repeat
trinucleotide repeast expansion diseases
fragile X CGG (methylation leads to decreased expression; X linked dominant)
huntington chromosome 4 CAG repeats
myotonc type 1 CTG repeats
friedrichs ataxia GAA
rate limiting enzyme of fatty acid synthesis
acetyl coA carboxylase
regulators include insulin and citrate positively
glucagon and palmitoyl coa negatively
rate limiting enzyme of de novo purne synthesis
glutamine phosphoribosylpyrophospahte
negative regulators are AMP, IMP and GMP.
rate limiting enzyme of denovo pyrimidine synthesis
carbamoyl phosphate synthetase II.
regulators ATP and PRPP positively and UTP negatively.
dysplastic nevus syndrome
manifests w numerous dysplastic nevi in a young person who has a family history of melanoma in more than 3 first degree relatives. this syndrome is associated w/ mutations in the CDKN2A gene on chromosome 9p21
fetal alcohol syndrome leads to congenital defects by
failure of cell migration
monozygotic identical twins cleavage timeline: 0-4 days 4-8 days 8-12 days >13 days
dichorionic diamniotic
monochorionic diaminiotic
monochorionic monoamniotic
monochorionic monoamniotic conjoined.
Syncytiotrophoblast
synthesizes hormones
lacks MHC-I expression-decreases chance of attack by maternal immune system.
single umbilical artery
associated with congenital and chromosomal anomalies.
umbilical arteries and veins are derived from
allantois.
urachus
is derived from the yolk sac. isa connection between the bladder and the umbilicus
if patent can lead to pee coming out the umbilicus.
partial failure–> fluid filled cavity lined with urothelium can lead to infection and adnocarcinoma.
4th aortic arch derivative
on left aortic arch. on right proximal part of subclavian artery.
6th aortic arch derivative
proximal part of pulmonary arteries and ductus arteriosus.
branchial clefts/grooves.
dervied from ectoderm.
1st cleft develops into external auditory meatus.
2nd-4th clefts form temporary vervical sinuses, which are obliterated by proliferation of 2nd arch mesenchyme.
if 2-4 persis leads to a branchial cleft cysts on lateral neck anterior to SCM.
pierre robin sequence
micrognathia, glossoptosis, cleft palate, airway obstruction.
Treacher collins syndrome
neural crest dysfunction –> mandibular hypoplasia, facial abnormalities.
brachial arch derivatives
refer to page 569 chew smile smile stylishly swallow simply swallow speak
3rd branchial pouch
dorsal wings–> inferior parathyroids
ventral wings–> thymus
4th branchial pouch
dorsal wings–> superior parathyroids
ventral wings–> ultimobranchial body–> parafollicular (C) cells of thyroid.
default development of an embryo
mesonephric duct degenerates and paramesonephric duct develops.
mullerian inhibitory factor
secreted by serotoli cells and suppresses the development of the paramesonephric duct
paramesonephric duct
develops into female internal structures-fallopian tubes, uterus, upper portion of vagina.
primary amenorrhea in females with fully developed secondary sexual characteristics
mullerian agenesis (mayer-rokitansky-kuster-hauser syndrome)
mesonephric duct
develops into SEED–> seminal vesicle, epididymis, ejaculatory duct, ductus deferens
no serotoli cells or lack of mullerian inhibitory factor?
develop both male and female internal genitalia and male external genitalia.
genital turbercle
glans penis and corpus cavernosum and spongiosum in males.
glans clitorus and vestibular bulbs in females
urogenital sinus
bulbouretheral glands of cowper and prostate gland in males
and greater vestibular glands and urethral and paraurethral glands in females.
urogenital folds
ventral shaft of penis in males
labia minora in females
hypo spadia vs epi spadia
hypo- failure of urethral folds to fuse
epi faulty positioning of genital tubercle.
gubernaculum
band of fibrous tissue
in males anchors testes within scrotum
in females it is the ovarian ligament + the round ligament of uterus
body of uterus/cervix and superior bladder drain to
external iliac nodes
glans penis drains to
deep inguinal nodes
infundibulopelvic ligament (suspensory ligament of the ovary)
connects ovaries to the lateral pelvic wall
contains the ovarian vessels
cardinal ligament
connects the cervix to side wall of pelvis
contains the uterine vessels.
ureter at risk of injury during ligation of uterine vessels in hysterectomy
round ligament of the uterus
uterus fundus to the labia majora.
travels through the round inguinal canal.
above the artery of sampson.
ovarian ligament
medial pole of ovary to lateral uterus.
pelvic fracture
membranous urethra prone to injury
urine to leak into retropubic space
perineal straddle injury
bulbar and penile urethra at risk
cause urine to leak beneath deep fascia of buck. if torn urine leaks into superficial perineal space
male sex response
erection - parasympathetic
emission- sympathetic (hypogastric nerve)
ejaculation-(pudendal nerve)
the internal urethral sphincter contracts during ejaculation to prevent retrograde flow of semen from the urethra to the bladder.
serotoli secretion of androgen binding protein
maintains local levels of testosterone.
estrogen
increases transport proteins, SHBG, increases HDL, decreases LDL.
oogensis arrest ohases
arrested in meiosis I prophase I until ovulation
arrested in meiosis II metaphase II until fertilization.
low birth weight complications
increased risk of SIDS
complications include respiratory distress syndrome, necrotizing enterocolitis, interventricular hemorrhage, and persistant fetal circulation
menopause
diagnosed by amenorrea for atleast 12 months.
increased FSH
causes hot flashes, atrophy of the vagina, osteoporosis, coronary artery disease, sleep disturbances
spermiogenesis
spermatids loss of cytoplasmic contents and gain of acrosomal caps.
severe acne, very tall, learning disabilities, autism spectrum disorders.
xyy
Kallman syndrome
failure to complete puberty; defective migration of GnRH cells and formation of olfactory bulb. anosmia.
decreased GnRH, FSH, Lh, testosterone.
color blindness.
vasa previa triad
membrane rupture, painless vaginal bleeding, and fetal bradycardia.
congenital torticollis
typically develops by 2-4 weeks of age
caused by birth trauma or mal position of the head in utero
may include hip dysplasia, metatarsus aductus, and talepes equinovarus
congenital torticollis
typically develops by 2-4 weeks of age
caused by birth trauma or mal position of the head in utero
may include hip dysplasia, metatarsus aductus, and talepes equinovarus
phsophofructokinase
rate limiting step of glycolysis
AMP and fructose-2,6-bisphosphate postive regulators
ATP and citrate negative regulators.
pyruvate kinase
PEP–> to pyruvate
fructose-1,6-BP postive regulator
ATP and alanine negative regulators
neurologic defects, lactic acidosis, increase serum alanine starting infancy
pyruvate dehrodrogenase deficiency
X-Linked.
increase intake of ketogenic nutrients lysine and leucine.
pyruvate carboxylase
in mitochondria.
pyruvate to oxaloacetate
requires biotin and ATP. activated by acetyl CoA
PEP carboxykinase
in cytosol.
oxaloacetate to PEP.
requires GTP
propionyl coa
generated from odd chain fatty acids and can enter TCA as succinyl CoA, undergo gluconeogenesis, and serve as a glucose source.
arginine and histidine are required during
periods of growth
treatment of hyperammonemia
lactulose to acidify the GI tract and trap NH4+ for excretion.
rifaximin to decrease colonic ammoniagenic bacteria
benzoate, phenylacetate, or phenylbututyrate to bund NH4+ and lead to excretion
glycine derivatives
–>porphyrin–>heme
arginine derivatives
creatinine, urea, and nitric oxide
maple syrup urine disease
blocked degradation of branched amino acids (Isoleucine, Leucine, Valine) due to decreased branched chain alpha ketoacid dehydrogenase
piss smells like burnt sugar
treatment restriction on branched amino acids and thiamine supplementation.
episodic peripheral neuropathy, angiokeratomas, hypohidrosis. late progressive renal failure and cardiovascular problems
fabry disease XR
deficient alpha galactosidase
accumulation of ceramide trihexoside (globotriacyl ceramide)
progressive neurodegeneration, hepatpsplenomegaly, foam cells and cherry spot on macula
niemann pick disease AR
deficient sphingomyelinase
accumulation of sphingomyelin
progressive neurodegeneration, developmental delay, cherry spot on macula, lysosomes w onion skin
tay-sachs disease AR
hexosamindase A deficiency
GM2-ganglioside accumalation
peripheral neuropathy, developmental delay, optic atrophy, globoid cells.
Krabbe disease AR
deficiency of galactocerebrosidase
galactocerebroside and psychosine accumalation
hurler syndrome
developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly.
deficient alpha L iduronidase
accumalation of heparin sulfate and dermatan sulfate
systemic primary carnitine deficiency
inherited defect in transport of LCFAs into mitochondra
causes hypotonia, weakness and hypoketotic hypoglycemia.
carnitine acetyl transferase
inhibited by malonyl CoA
medium chain acyl CoA dehydrogenase deficiency
autosomal recessive
accumalation of 8-10 carbon fatty acyl carnitines in the blood and hypoketotic hypoglycemia.
present in early infancy as lethargy, seizures, coma, and liver dysfunction.
acetyl coA dehydrogenase.
triad of coombs (-) hemolytic anemia, pancytopenia, and venous thrombosis
paroxysmal nocturnal hemoglobinuria. treatment ecilizumab (terminal complement inhibitor)
Diamond blackfan anemia
rapid onset anemia within 1st year of life due to intrinsic defect in erythroid progenitor cells
short stature, cranio facial abnormalaties, and upper extremity malformations (triphalangeal thumbs)
achondroplasia
FGFR3 mutation (constitutive activation which inhibits chondrocyte proliferation). autosomal dominant problem with endochondrial ossification leading to shortened limbs and normal sized head.
thickened dense bones prone to fracture.
failure of normal bone resorption due to defective osteoclasts–> thickened dense bones that are prone to fracture.
bone fills marrow space –> pancytopenia, extramedullary hematopoeisis
carbonic anyhydrase II mutations can be seen.–> impair ability of osteoclast to generate acidic environment necessary for bone resorption
cranial nerve impingement and palsies as a result of narrowed foramina.
bone marrow transplant potentially curative
Pagets disease of bone
caused by increase osteoclastic activity followed by increased osteoblastic activity that forms poor quality bone.
serum calcium, phosphorus and PTH lvls normal ALP increased.
mosaic pattern of woven and lamellar bone.
increased blood flow from increased arteriovenous shunt formation may cause high output cardiac failure
increased risk of osteogenic sarcoma.
increase hat size
hearing loss
osetonecrosis causes
corticosteroids, alcoholism, sickle cell disease, Trauma, the Bends (caisson/decompression disease), Legg-Calve perthes disease, Gaucher disease, slipped capital femoral epiphysis.
osteoma
benign tumor of bone aries on surface of facial bones. associated with gardner syndrome (FAP+osteoma)
osteoid osteoma
benign tumor of osteoblasts (produce osteoid) surrounded by rim of reactive bone ; bone pain that resolves with aspirin. bony mass less than 2 CM on imaging
osteoblastoma
similar to an osteoid osteoma but on vertebrae and larger than 2 CM and does not respond to aspirin.
Chondroma
benign tumor of cartilage. arises in medulla of small bones of hands and feet.
olliers syndrome and maffuci’s syndrome.
lichen sclerosis
thinning of epidermis and fibrosis of dermis. leukoplakia with parchment like vulvar skin.
most commonly seen in postmenopausal women.
associated with slightly increased risk of SCC
risk factors for CIN
multiple sexual partners, smoking, starting sexual intercourse at a young age, HIV infection (immunodeficiency)
PCOS
hyperinsulenemia and or insulin resistance.
increased LH:FSH ratio
anovulation
enlarged bilateral cystic ovaries
amenorrhea/oligorrhea, hirsutism acne, decreased fertility. associated with obesity
increased risk of endometrial cancer.
follicular cyst
distention of unruptured graafian follicle.
may be associated with hyperestrogenism, endometrial hyperplasi.
most common ovarian mass in young women.
ovarian neoplasm risk factors
advanced age, infertility, endometriosis, PCOS, genetic predisposition.
factors decreasing risk of ovarian neoplasms
previous pregnancy, history of breast feeding, OCPs, tubal ligation.
mature cystic teratoma
Germ cell tumor, most common ovarian tumor in females (10-30YO)
cystic mass containing elements of all 3 germ layers
present with pain secondary to ovarian enlargement or torsion.
monodermal form struma ovarii (presents with hyperthyroidism).
somatic malignancy-SCC
ovarian tumor looks like bladder
Brenner tumor
ovarian fibroma, ascites, hydrothorax. pulling sensation in groin
meigs syndrome
variant of a ovarian fibroma- bundles of spindle shaped fibroblasts
ovarian fibroma, ascites, hydrothorax. pulling sensation in groin
meigs syndrome
variant of a ovarian fibroma- bundles of spindle shaped fibroblasts
granulosa cell tumor
most common malignant stromal tumor.
often produces estrogen or progesterone and produces postmenpausal bleeding, sexual precocity (in pre adolescents), breast tenderness.
histology shows call exner bodies
serous cystadenocarcinoma
most common malignant ovarian neoplasm, frequently bilateral. Psamomma bodies.
mucinous cusadenocarcinoma
psuedomyoma peritonei-intraperitoneal accumulation of mucinous material from ovarian or appendiceal tumor.
immature teratoma
aggressive contains fetal tissue, neuroectoderm
immature embryonic like neural tissue.
dysgerminoma
most common in adolescents
sheets of uniform friend egg cells.
hCG LDH
yolk sac (endodermal sinus tumor)
sacrococcygeal area in young children most common tumor in male infants yellow friable (hemorrhagic), solid mass. schiller duval bodies. AFP
lichen simplex chronicus
hyperplasia of vulvar squamous epithelium.
leukoplakia with thick leathery vulvar skin. associated with chronic irritation and scafolding.
benign
neuritic plaques
A beta amyloid and neuritic processes
layers where pyramidal neurons are located
3,5,6
thombotic stroke
pale infarcts
embolic stroke
hemorrhagic infarct
lewy bodies in parkin disease vs lewy body dimentia
in parkinson’s they are located in the neuron of the substantia nigra pars compacta
in lewy body disease they are located in the cortical neurons
hence early dimentia in lewy body and late in parkinson’s
histology in prion disease
spongy degeneration (spongiform encephalopathy)
normal pressure hydrocephalus causes stretching of the
corona radiata
This sheet of both ascending and descending axons carries most of the neural traffic from and to the cerebral cortex. The corona radiata is associated with the corticospinal tract, the corticopontine tract, and the corticobulbar tract.
genes transferred by specialized transduction
ABCDS group A strep erythrogenic toxin botulinum toxin cholera toxin diptheria toxin shiga toxin
Van A gene from VRE to staph aureus is an example of
transposon
spore forming bacteria
bacillus and clostridium
spores have dipicolinic acid
Shiga and shiga like toxin
inactivate the 60s ribosome by removing adenine from rRNA
heat labile vs heat stabile toxins
heat labile increase cAMP leading to an increase in Cl- secretion
heat stabile toxin increases cGMP leading to decreased NA reabsorption
two toxins that degrade cell membranes
alpha toxin from clostridium perfringens and streptolysin O from group A strep
M marinum
hand infection in aquarium handlers
M scrofulaceum
cervical lymphadenitis in
children
Cord factor
creates a “serpentine cord”
appearance in virulent M tuberculosis
strains; activates macrophages (promoting
granuloma formation) and induces release of
TNF-α.
Sulfatides (surface glycolipids)
inhibit
phagolysosomal fusion
leprosy
lepromatous vs tuberculoid form
lepromatous mainly TH2 response leading to leonine like facies and is communicable
tuberculoid mainly TH1 response limited to few hypoesthetic hairless skin plauqes
Treatment: dapsone and rifampin for tuberculoid form; clofazimine is added for lepromatous form
Lymphogranuloma venereum
small, painless
ulcers on genitals swollen, painful inguinal
lymph nodes that ulcerate (buboes). Treat with
doxycycline.
receptors used by viruses: CMV EBV HIV Parvovirus B19 Rabies Nicotinic Rhinovirus
intergrins (heparin sulfate) CD21 CD4, CXCR4, CCR5 P antigen on RBCs AchR ICAM-1
Picornoviruses
PERCH polio virus enterovirus rhino virus coxsackie virus hep A
FLaviviruses
Hep C west nile st louis dengue yellow fever zika
togaviruses
chukinguya
rubella virus
EEE WEE VEE
fillovirus
ebola/marbug
negative strand viruses
always bring polymerase or fail replication arena virus bunyavirus paramyxovirus orthomyxovirus filoviruses rhabdovirus
yellow fever virus
Aedes mosquitoes. Virus has a monkey or human reservoir. Symptoms: high fever, black vomitus, and jaundice. May see Councilman bodies (eosinophilic apoptotic globules) on liver biopsy.
segmented viruses
BOAR bunyavirus- 3 segments orthomyxovirus- 8 segments arenavirus- 2 segments riovirus 11 segments
influenza virus
Contain
hemagglutinin (binds sialic acid and promotes
viral entry) and neuraminidase (promotes
progeny virion release) antigens. Patients at
risk for fatal bacterial superinfection, most
commonly S aureus, S pneumoniae, and
H influenzae.
Warthin-
Finkeldey giant cells
(fused lymphocytes) in
a background of paracortical hyperplasia.
sign of measles
Dorsal motor nucleus
Sends autonomic (parasympathetic) fibers to
heart, lungs, upper GI
vagus
frontal eye field lesion vs PPRF
frontal eye field lesion produces gazes toward lesion side
PPRF produce gaze away from lesion side
hyperopia
Also known as “farsightedness.” Eye too short for refractive power of cornea and lens –> light
focused behind retina. Correct with convex (converging) lenses.
myopa
Also known as “nearsightedness.” Eye too long for refractive power of cornea and lens –> light
focused in front of retina. Correct with concave (diverging) lens
astigmatism
Abnormal curvature of cornea different refractive power at different axes. Correct with
cylindrical lens.
presbyopia
Aging-related impaired accommodation (focusing on near objects), primarily due to decreased lens
elasticity, changes in lens curvature, decreased strength of the ciliary muscle. Patients often need “reading
glasses” (magnifiers).
greenstick fracture
Incomplete fracture extending partway through
width of bone A following bending stress;
bone is bent like a green twig.
torus fracture
Axial force applied to immature bone simple
buckle fracture of cortex B . Can be very
subtle.
Iliohypogastric
T12-L1
Sensory—suprapubic region Motor—transversus abdominis and internal oblique injury: Abdominal surgery Burning or tingling pain in surgical incision site radiating to inguinal and suprapubic region
Genitofemoral nerve
L1-L2
Sensory—scrotum/labia majora, medial thigh Motor—cremaster Laparoscopic surgery decreased anterior thigh sensation beneath inguinal ligament; absent cremasteric reflex
Lateral femoral
cutaneous (L2-L3)
Sensory—anterior and lateral thigh Tight clothing, obesity, pregnancy decrease thigh sensation (anterior and lateral)
Obturator (L2-L4)
Sensory—medial thigh Motor—obturator externus, adductor longus, adductor brevis, gracilis, pectineus, adductor magnus Pelvic surgery decreased thigh sensation (medial) and adduction
Femoral (L2-L4)
Sensory—anterior thigh, medial leg Motor—quadriceps, iliopsoas, pectineus, sartorius Pelvic fracture thigh flexion and leg extension
Sciatic (L4-S3)
Sensory—posterior thigh Motor—semitendinosus, semimembranosus, biceps femoris, adductor magnus Herniated disc Splits into common peroneal and tibial nerves
Common peroneal
L4-S2
Sensory—dorsum of foot Motor—biceps femoris, tibialis anterior, extensor muscles of foot Trauma or compression of lateral aspect of leg, fibular neck fracture PED = Peroneal Everts and Dorsiflexes; if injured, foot dropPED Loss of sensation on dorsum of foot Foot drop—inverted and plantarflexed at rest, loss of eversion and dorsiflexion; “steppage gait”
Tibial (L4-S3)
Sensory—sole of foot Motor—triceps surae, plantaris, popliteus, flexor muscles of foot Knee trauma, Baker cyst (proximal lesion); tarsal tunnel syndrome (distal lesion) TIP = Tibial Inverts and Plantarflexes; if injured, can’t stand on TIPtoes Inability to curl toes and loss of sensation on sole; in proximal lesions, foot everted at rest with loss of inversion and plantarflexion
Superior gluteal (L4- S1)
Motor—gluteus medius, gluteus minimus, tensor fascia latae Iatrogenic injury during intramuscular injection to upper medial gluteal region Trendelenburg sign/gait— pelvis tilts because weightbearing leg cannot maintain alignment of pelvis through hip abduction Lesion is contralateral to the side of the hip that drops, ipsilateral to extremity on which the patient stands Choose superolateral quadrant (ideally the anterolateral region) as intramuscular injection site to avoid nerve injury
Inferior gluteal (L5-S2)
Motor—gluteus maximus Posterior hip dislocation Difficulty climbing stairs, rising
from seated position; loss of
hip extension
Pudendal (S2-S4)
Sensory—perineum Motor—external urethral and anal sphincters Stretch injury during childbirth sensation in perineum and genital area; can cause fecal or urinary incontinence Can be blocked with local anesthetic during childbirth using ischial spine as a landmark for injection
nerve and artery associated with these locations: Axilla/lateral thorax Surgical neck of humerus Midshaft of humerus Distal humerus/ cubital fossa Popliteal fossa Posterior to medial
- long thoracic and lateral thoracic
- axillary and posterior circumflex
- radial and deep brachial
- median and brachial
- tibial and popliteal
- tibial and posterial tibial
transferance
Patient projects feelings about formative or other important persons onto physician (eg, psychiatrist
is seen as parent).
countertransferance
Doctor projects feelings about formative or other important persons onto patient (eg, patient
reminds physician of younger sibling).
displacement
Redirection of emotions or impulses to a neutral
person or object (vs projection).
A teacher is yelled at by the principal. Instead of
confronting the principal directly, the teacher
goes home and criticizes her husband’s dinner
selection.
Dissociation
Temporary, drastic change in personality,
memory, consciousness, or motor behavior to
avoid emotional stress. Patient has incomplete
or no memory of traumatic event.
A victim of sexual abuse suddenly appears numb
and detached when she is exposed to her
abuser.
Identification
A resident starts putting his stethoscope in his
pocket like his favorite attending, instead of
wearing it around his neck like before
Isolation (of affect)
Separating feelings from ideas and events. Describing murder in graphic detail with no
emotional response.
Projection
Attributing an unacceptable internal impulse to
an external source (vs displacement).
A man who wants to cheat on his wife accuses
his wife of being unfaithful.
Rationalization
Proclaiming logical reasons for actions actually
performed for other reasons, usually to avoid
self-blame.
After getting fired, claiming that the job was not
important anyway.
Reaction formation
Replacing a warded-off idea or feeling by an
(unconsciously derived) emphasis on its
opposite (vs sublimation).
A patient with libidinous thoughts enters a
monastery.
Repression
Involuntarily withholding an idea or feeling
from conscious awareness (vs suppression).
A 20-year-old does not remember going to
counseling during his parents’ divorce 10 years
earlier.
Sublimation
Replacing an unacceptable wish with a course
of action that is similar to the wish but does
not conflict with one’s value system (vs
reaction formation).
Teenager’s aggression toward his father is
redirected to perform well in sports
Suppression
Intentionally withholding an idea or feeling from
conscious awareness (vs repression); temporary.
Choosing to not worry about the big game until
it is time to play.
Vulnerable child
syndrome
Parents perceive the child as especially susceptible to illness or injury. Usually follows a serious
illness or life-threatening event. Can result in missed school or overuse of medical services.
Rett syndrome
X-linked dominant disorder seen almost exclusively in girls (affected males die in utero or shortly
after birth). Majority of cases are caused by de novo mutation of MECP2. Symptoms usually
become apparent around ages 1–4, including regression characterized by loss of development, loss
of verbal abilities, intellectual disability, ataxia, stereotyped hand-wringing. No longer a solitary
diagnosis within DSM-5.
Tourette syndrome
Onset before age 18. Characterized by sudden, rapid, recurrent, nonrhythmic, stereotyped motor
and vocal tics that persist for > 1 year. Coprolalia (involuntary obscene speech) found in only
10–20% of patients. Associated with OCD and ADHD. Treatment: psychoeducation, behavioral
therapy. For intractable and distressing tics, high-potency antipsychotics (eg, haloperidol,
fluphenazine, pimozide), tetrabenazine, α2-agonists (eg, guanfacine, clonidine), or atypical
antipsychotics may be used.
Disruptive mood dysregulation disorder
Onset before age 10. Severe and recurrent temper outbursts out of proportion to situation. Child
is constantly angry and irritable between outbursts. Treatment: psychostimulants, antipsychotics,
CBT.
Depersonalization/derealization disorder
Persistent feelings of detachment or estrangement from one’s own body, thoughts, perceptions, and
actions (depersonalization) or one’s environment (derealization).
delusional disorder
Fixed, persistent, false belief system lasting > 1 month. Functioning otherwise not impaired
(eg, a woman who genuinely believes she is married to a celebrity when, in fact, she is not).
Can be shared by individuals in close relationships (folie à deux).
Schizoaffective disorder
Meets criteria for
schizophrenia in addition to major mood
disorder (major depressive or bipolar). To
differentiate from a major mood disorder
with psychotic features, patient must have
> 2 weeks of hallucinations or delusions
without major mood episode.
Bipolar disorder (manic depression)
Bipolar I defined by presence of at least 1 manic episode +/− a hypomanic or depressive episode.
Bipolar II defined by presence of a hypomanic and a depressive episode.
Patient’s mood and functioning usually return to normal between episodes. Use of antidepressants
can precipitate mania. High suicide risk. Treatment: mood stabilizers (eg, lithium, valproic acid,
carbamazepine, lamotrigine), atypical antipsychotics.
Cyclothymic disorder—milder form of bipolar disorder lasting at least 2 years, fluctuating
between mild depressive and hypomanic symptoms.
major depressive disorder
Episodes characterized by at least 5 of
the 9 diagnostic symptoms lasting ≥ 2
weeks (symptoms must include patientreported
depressed mood or anhedonia).
Treatment: CBT and SSRIs are first line.
SNRIs, mirtazapine, bupropion can also be
considered. Antidepressants are indicated if
bipolar disorder is ruled out. Electroconvulsive
therapy (ECT) in select patients.
Persistent depressive disorder (dysthymia)—
depression, often milder, lasting at least
2 years.
Depression with atypical features
Characterized by mood reactivity (being able to experience improved mood in response to positive
events, albeit briefly), “reversed” vegetative symptoms (hypersomnia, hyperphagia), leaden
paralysis (heavy feeling in arms and legs), long-standing interpersonal rejection sensitivity. Most
common subtype of depression. Treatment: CBT and SSRIs are first line. MAO inhibitors are
effective but not first line because of their risk profile.
Maternal (postpartum) “blues”
50–85% incidence rate. Characterized by depressed affect, tearfulness, and fatigue starting 2–3
days after delivery. Usually resolves within 10 days. Treatment: supportive. Follow up to assess for
possible postpartum depression.
Postpartum depression
10–15% incidence rate. Characterized by depressed affect, anxiety, and poor concentration for ≥ 2
weeks. Treatment: CBT and SSRIs are first line.
Postpartum psychosis
0.1–0.2% incidence rate. Characterized by mood-congruent delusions, hallucinations, and
thoughts of harming the baby or self. Risk factors include history of bipolar or psychotic disorder,
first pregnancy, family history, recent discontinuation of psychotropic medication. Treatment:
hospitalization and initiation of atypical antipsychotic; if insufficient, ECT may be used.
Adjustment disorder—
disorder—emotional symptoms (anxiety, depression) that occur within 3 months of
an identifiable psychosocial stressor (eg, divorce, illness) lasting < 6 months once the stressor has
ended. If stressor lasts > 6 months and causes continual impairment, it is GAD. Treatment: CBT,
SSRIs.
obsessive compulsive disorder
Recurring intrusive thoughts, feelings, or sensations (obsessions) that cause severe distress;
relieved in part by the performance of repetitive actions (compulsions). Ego-dystonic: behavior
inconsistent with one’s own beliefs and attitudes (vs obsessive-compulsive personality disorder).
Associated with Tourette syndrome. Treatment: CBT, SSRIs, and clomipramine are first line.
post traumatic stress disorder
Exposure to prior trauma (eg, witnessing death, experiencing serious injury or rape) persistent
Hyperarousal, Avoidance of associated stimuli, intrusive Reexperiencing of the event (nightmares,
flashbacks), changes in cognition or mood (fear, horror, Distress) (having PTSD is HARD).
Disturbance lasts > 1 month with significant distress or impaired social-occupational functioning.
Treatment: CBT, SSRIs, and venlafaxine are first line. Prazosin can reduce nightmares.
Acute stress disorder—lasts between 3 days and 1 month. Treatment: CBT; pharmacotherapy is
usually not indicated.
borderline personality disorder
Unstable mood and interpersonal relationships,
impulsivity, self-mutilation, suicidality, sense
of emptiness; females > males; splitting is a
major defense mechanism.
Treatment: dialectical behavior therapy
histrionic
Excessive emotionality and excitability,
attention seeking, sexually provocative, overly
concerned with appearance.
factitious disorder imposed on self
Also known as Munchausen syndrome. Chronic factitious disorder with predominantly physical
signs and symptoms. Characterized by a history of multiple hospital admissions and willingness to
undergo invasive procedures. More common in women and healthcare workers.
somatic symptom disorder
Variety of bodily complaints (eg, pain, fatigue) lasting for months to years. Associated with
excessive, persistent thoughts and anxiety about symptoms. May co-occur with medical illness.
Treatment: regular office visits with the same physician in combination with psychotherapy.
Conversion disorder(functional neurologic symptom disorder)
Loss of sensory or motor function (eg, paralysis, blindness, mutism), often following an acute
stressor; patient is aware of but sometimes indifferent toward symptoms (“la belle indifférence”);
more common in females, adolescents, and young adults.
Illness anxiety
disorder
(hypochondriasis)
Excessive preoccupation with acquiring or having a serious illness, often despite medical
evaluation and reassurance; minimal somatic symptoms.
Refeeding syndrome
(increased insulin –> hypophosphatemia –> cardiac complications) can occur in
significantly malnourished patients.
down syndrome first and second semester ultrasound and serologies
First-trimester ultrasound commonly shows
nuchal translucency and hypoplastic nasal
bone; decrease serum PAPP-A, increase free β-hCG.
Second-trimester quad screen shows
decrease α-fetoprotein, increase β-hCG, decrease estriol, increase inhibin A.
edward’s syndrome serologies
PAPP-A and free β-hCG are decreeased in first trimester.
Quad screen shows decrease α-fetoprotein, decrease β-hCG,
decrease estriol, decrease or normal inhibin A.
patau syndrome
First-trimester pregnancy screen shows free
β-hCG, PAPP-A.
genetic disorders asociated with chromosomes 3-7
3 von Hippel-Lindau disease, renal cell carcinoma
4 ADPKD (PKD2), achondroplasia, Huntington disease
5 Cri-du-chat syndrome, familial adenomatous polyposis
6 Hemochromatosis (HFE)
7 Williams syndrome, cystic fibrosis
genetic disorders associated with chromosomes 9,11,13,15
9 Friedreich ataxia
11 Wilms tumor, β-globin gene defects (eg, sickle cell disease, β-thalassemia, MEN1)
13 Patau syndrome, Wilson disease, retinoblastoma (RB1), BRCA2
15 Prader-Willi syndrome, Angelman syndrome, Marfan syndrome
genetic disorders associated with chromosomes 16, 17,, 18, 21, 22, X
16 ADPKD (PKD1), α-globin gene defects (eg, α-thalassemia)
17 Neurofibromatosis type 1, BRCA1, p53
18 Edwards syndrome
21 Down syndrome
22 Neurofibromatosis type 2, DiGeorge syndrome (22q11)
X Fragile X syndrome, X-linked agammaglobulinemia, Klinefelter syndrome (XXY)
In thiamine pyrophosphate (TPP), a cofactor for
several dehydrogenase enzyme reactions:
Pyruvate dehydrogenase (links glycolysis to
TCA cycle)
α-ketoglutarate dehydrogenase (TCA cycle)
Transketolase (HMP shunt)
Branched-chain ketoacid dehydrogenase
riboflavin
vitamin B2
used in the succinate dehydrogenase reaction
vitamin B 5
pantothenic acid
used as a cofactor for fatty acid synthase and Co enzyme A(CoA)
vitamin B6
pyridoxine Converted to pyridoxal phosphate (PLP), a cofactor used in transamination (eg, ALT and AST),
decarboxylation reactions, glycogen phosphorylase. Synthesis of cystathionine, heme, niacin,
histamine, and neurotransmitters including serotonin, epinephrine, norepinephrine (NE),
dopamine, and GABA.
vitamin B7 is a Cofactor for
Cofactor for carboxylation enzymes (which add
a 1-carbon group):
Pyruvate carboxylase: pyruvate (3C)
–> oxaloacetate (4C)
Acetyl-CoA carboxylase: acetyl-CoA (2C)
–> malonyl-CoA (3C)
Propionyl-CoA carboxylase: propionyl-CoA
(3C) –> methylmalonyl-CoA (4C)
vitamin C
Antioxidant; also facilitates iron absorption
by reducing it to Fe2+ state. Necessary
for hydroxylation of proline and lysine in
collagen synthesis. Necessary for dopamine
β-hydroxylase, which converts dopamine to
NE.
Glucose-6-
phosphatase
In ER. Glucose-6-phosphate –> glucose.
Renal oncocytoma
Benign epithelial cell tumor arising from
collecting ducts well circumscribed
mass with central scar).
Large eosinophilic cells with abundant
mitochondria without perinuclear clearing
B (vs chromophobe renal cell carcinoma).
Presents with painless hematuria, flank pain,
abdominal mass.
Often resected to exclude malignancy (eg, renal
cell carcinoma).
Nephroblastoma
Wilms tumor
Most common renal malignancy of early childhood (ages 2–4). Contains embryonic glomerular
structures. Presents with large, palpable, unilateral flank mass A and/or hematuria.
“Loss of function” mutations of tumor suppressor genes WT1 or WT2 on chromosome 11.
WAGR complex
Wilms tumor, Aniridia (absence of iris), Genitourinary malformations, mental
Retardation/intellectual disability (WT1 deletion)
denys drash
Wilms tumor, early-onset nephrotic syndrome, male pseudohermaphroditism
(WT1 mutation)
beckwith-wiedeman syndrome
Wilms tumor, macroglossia, organomegaly, hemihyperplasia (WT2
mutation)
Most common tumor of urinary tract system
(can occur in renal calyces, renal pelvis,
ureters, and bladder)
transitional cell carcinoma
can be suggested by painless hematuria.
smoking, phenacetin, anyline dyes and cyclophosphamide
Squamous cell
carcinoma of the
bladder
Chronic irritation of urinary bladder –> squamous metaplasia –> dysplasia and squamous cell
carcinoma.
Risk factors include Schistosoma haematobium infection (Middle East), chronic cystitis, smoking,
chronic nephrolithiasis. Presents with painless hematuria.
grossly orange nodules that can mimic tumor
nodules; characterized by widespread kidney damage due to granulomatous tissue containing
foamy macrophages
Xanthogranulomatous pyelonephritis
Diffuse cortical
necrosis
Associated with obstetric catastrophes (eg,
abruptio placentae), septic shock.
Acute interstitial nephritis(tubulointerstitial nephritis)
Acute interstitial renal inflammation. Pyuria
(classically eosinophils) and azotemia
occurring after administration of drugs that
act as haptens, inducing hypersensitivity
Associated with fever, rash, hematuria, and
costovertebral angle tenderness, but can be
asymptomatic
Pee (diuretics)
Pain-free (NSAIDs)
Penicillins and cephalosporins
Proton pump inhibitors
RifamPin
Acute tubular necrosis
Can be caused by ischemic or nephrotoxic injury:
Ischemic—2° to decreased renal blood flow (eg, hypotension, shock, sepsis, hemorrhage, HF). Results
in death of tubular cells that may slough into tubular lumen B (PCT and thick ascending limb
are highly susceptible to injury).
Nephrotoxic—2° to injury resulting from toxic substances (eg, aminoglycosides, radiocontrast
agents, lead, cisplatin, ethylene glycol), crush injury (myoglobinuria), hemoglobinuria. PCT is
particularly susceptible to injury.
Renal papillary
necrosis
Sloughing of necrotic renal papillae A gross hematuria and proteinuria. May be triggered by recent infection or immune stimulus. SAAD papa with papillary necrosis: Sickle cell disease or trait Acute pyelonephritis Analgesics (NSAIDs) Diabetes mellitus
Autosomal dominant
polycystic kidney
disease
Numerous cysts in cortex and medulla
Autosomal recessive
polycystic kidney
disease
Cystic dilation of collecting ducts
associated with congenital
hepatic fibrosis. Significant oliguric renal failure in utero can lead to Potter sequence
Medullary cystic
disease
Inherited disease causing tubulointerstitial fibrosis and progressive renal insufficiency with inability
to concentrate urine. Medullary cysts usually not visualized; shrunken kidneys on ultrasound.
Poor prognosis.
choriocarcinoma
malignancy of trophoblastic tissue (cytotrophoblasts and syncytiotrophoblasts).
no chorionic villi present.
shortness of breath hemoptysis and increase in beta hCG
hematogenous spread to lungs.
Hematogenous spread to lungs
–> “cannonball” metastases
androgen insensitivity syndrome (46XY)
defect in androgen recepto resulting in normal appearing female.
female external genitalia with scant sexual hair, rudimentary vagina
develop normal functioning testes
increased testosterone, estrogen, LH (vs sex chromosome disorders)
placental aramotase deficiency
inability to synthesize estrogens from androgens.
masculinization of female
increase serum testosterone and androstenedione
can present with maternal virilization during pregnancy
lung development embryonic weeks 4-7
lung-> tertiary bronchi
Errors at this stage can lead to
tracheoesophageal fistula
lung development psuedoglandular 5-17
terminal bronchioles
Respiration impossible, incompatible with life.
Respiratory zone
Lung parenchyma; consists of respiratory bronchioles, alveolar ducts, and alveoli. Participates in gas
exchange.
Mostly cuboidal cells in respiratory bronchioles, then simple squamous cells up to alveoli. Cilia
terminate in respiratory bronchioles
conducting zone
Large airways consist of nose, pharynx, larynx, trachea, and bronchi. Small airways consist of
bronchioles that further divide into terminal bronchioles (large numbers in parallel -> least airway
resistance).
Warms, humidifies, and filters air but does not participate in gas exchange “anatomic dead
space.”
Cartilage and goblet cells extend to end of bronchi
Airway smooth muscle cells extend to end of terminal bronchioles (sparse beyond this point).
Inspiratory Capacity
FRC
VC
TLC
Inspiratory capacity IRV + TV
Air that can be breathed in after normal exhalation
Functional residual capacity
RV + ERV. Volume of gas in lungs after normal expiration
Vital capacity TV + IRV + ERV. Maximum volume of gas that can be expired
after a maximal inspiration
Total lung capacity IRV + TV + ERV + RV
Volume of gas present in lungs after a maximal
inspiration
Lung volumes that cannot be measured on spirometry.
RV
TLC
FRC
changes in FRC with
COPD
fibrosis
increase
decrease
aging cganges in respiratory system
increase in RV, decrease in FVC and unchanged TLC
cyanosis and chocolate colored blood
methemoglobia
nitrates and benzocaine and can lead to this
treat with methylene blue and vitamin C.
confusion, headache and almond breathe
cyanide poisoning
treat with sodium thisulfate and nitrate
poisons cytochrome c and increases anaerobic metabolism.
asbestosis
Associated with shipbuilding, roofing, plumbing. “Ivory white,” calcified, supradiaphragmatic and pleural plaques are pathognomonic of asbestosis. affects lower lobes increases risk of pleural effusions.
berryllioses
Associated with exposure to beryllium in aerospace and manufacturing industries. Granulomatous (noncaseating) on histology and therefore occasionally responsive to steroids. affects upper lobes
silicosis
Associated with foundries, sandblasting,
mines. Macrophages respond to silica
and release fibrogenic factors, leading to
fibrosis. It is thought that silica may disrupt
phagolysosomes and impair macrophages,
increasing susceptibility to TB.
Affects upper lobes.
“Eggshell” calcification of hilar lymph nodes on
CXR.
Acute respiratory
distress syndrome
Endothelial damage –> increases alveolar
capillary permeability –> protein-rich leakage
into alveoli –> diffuse alveolar damage and
noncardiogenic pulmonary edema (normal
PCWP)
Initial damage
due to release of neutrophilic substances
toxic to alveolar wall and pulmonary capillary
endothelial cells, activation of coagulation
cascade, and oxygen-derived free radicals
sleep apnea
Repeated cessation of breathing > 10 seconds during sleep –> disrupted sleep –> daytime
somnolence. Diagnosis confirmed by sleep study. Normal Pao2 during the day.
Nocturnal hypoxia –> systemic/pulmonary hypertension, arrhythmias (atrial fibrillation/flutter),
sudden death.
Hypoxia – increased EPO release –> increased erythropoiesis.
obstructive sleep apnea
Respiratory effort against airway obstruction. Associated with obesity, loud snoring. Caused by
excess parapharyngeal tissue in adults, adenotonsillar hypertrophy in children. Treatment: weight
loss, CPAP, surgery.
obesity hypoventiallation syndrome
Obesity (BMI ≥ 30 kg/m2) –> hypoventilation increased PaCO2 during waking hours (retention); decreased PaO2 and increased PaCO2 during sleep. Also known as Pickwickian syndrome.
BMPR2
normally inhibits vascular smooth muscle proliferation.
inactivated in hereditary PH
decreased breath sounds, decreased fremitus and dull percussion
pleural effussion and atelectasis.
atelectasis can cause tracheal deviation towards side of the lesion
Bronchial breath sounds; late inspiratory crackles, egophony, bronchophony, whispered pectoriloquy, increased fremitus and dull percussion
consolidation (lobar pneumonia, pulmonary edema)
pleural effusions
- transudate
- exudate
- lymphatic
-decrease protein content. Due to increased hydrostatic pressure (eg, HF) or decreased oncotic pressure (eg, nephrotic syndrome, cirrhosis).
- increased protein content, cloudy. Due to malignancy, pneumonia, collagen vascular disease, trauma
(occurs in states of increased vascular permeability). Must be drained due to risk of infection.
- Also known as chylothorax. Due to thoracic duct injury from trauma or malignancy. Milkyappearing
fluid; increased triglycerides
Cryptogenic organizing pneumonia
Formerly known as bronchiolitis obliterans organizing pneumonia (BOOP). Noninfectious pneumonia characterized by inflammation of bronchioles and surrounding structure. Etiology unknown. Secondary organizing pneumonia caused by chronic inflammatory diseases (eg, rheumatoid arthritis) or medication side effects(eg, amiodarone). ⊝ sputum and blood cultures,
no response to antibiotics
Congestion
Red hepatization
Gray hepatization
Resolution
- 1-2 Red-purple, partial consolidation of parenchyma
Exudate with mostly bacteria - 3-4 Red-brown, consolidated Exudate with fibrin, bacteria, RBCs, and WBCs
-5-7 Uniformly grayExudate full of WBCs and fibrin
-8+ Enzymes digest components of exudate
pancoast tumor
Compression of locoregional structures may cause array of findings:
Recurrent laryngeal nerve –> hoarseness
Stellate ganglion –> Horner syndrome (ipsilateral ptosis, miosis, anhidrosis)
Superior vena cava –> SVC syndrome
Brachiocephalic vein –> brachiocephalic syndrome (unilateral symptoms)
Brachial plexus –> sensorimotor deficits
duodenal atresia
failure to recanalize. Associated with “double bubble” (dilated stomach, proximal duodenum) on x-ray ). Associated with Down syndrome.
jejunal and ileal atresia
disruption of mesenteric vessels –> ischemic necrosis –>segmental resorption (bowel discontinuity or “apple peel”).
ventral and dorsal pancreatic buds
Ventral pancreatic buds contribute to uncinate process and main pancreatic duct.
The dorsal pancreatic bud alone becomes the body, tail, isthmus, and accessory pancreatic duct. Both the ventral and dorsal buds contribute to pancreatic head
hepatoduodenal ligament
Liver to duodenum
Portal triad: proper hepatic artery, portal vein, common
bile duct
gastrohepatic ligament
Liver to lesser curvature of stomach Gastric arteries Separates greater and lesser sacs
on the right
ligaments of the greater curvature of the stomach
gastrocolic Greater curvature and transverse colon
Gastroepiploic arteries
gastrosplenic- Greater curvature and spleen Short gastrics, left gastroepiploic vessels Separates greater and lesser sacs on the left
splenorenal ligament
Spleen to posterior abdominal wall Splenic artery and vein, tail of pancreas
erosions vs ulcerations
into but not over the the muscularis mucosa.
ulcers can extend into the subucosa, inner or outer muscular layer
location of meissner plexus and myenteric (auerbach plexus)
meissner is in the submucosa
myenteric (auerbach) is in the muscularis between outer and inner muscular layers
transjugular intrahepatic portosystemic shunt
between the portal vein and hepatic vein relieves portal hypertension by shunting blood to the systemic circulation, bypassing the liver. Can precipitate hepatic encephalopathy
Above pectinate line
internal hemorrhoids, adenocarcinoma. Arterial supply from superior rectal artery (branch of IMA).
Venous drainage: superior rectal vein –> inferior
mesenteric vein –> splenic vein –> portal vein
Lymphatic drainage to internal iliac lymph
nodes.
not painful
below pectinate line
external hemorrhoids, anal fissures, squamous cell carcinoma. Arterial supply from inferior rectal artery (branch of internal pudendal artery).
Venous drainage: inferior rectal vein –> internal
pudendal vein –> internal iliac vein –> common
iliac vein –> IVC.
External hemorrhoids receive somatic
innervation (inferior rectal branch of pudendal
nerve) and are therefore painful if thrombosed.
Lymphatic drainage to superficial inguinal nodes
anal fissure
tear in the anal mucosa below the Pectinate line. Pain while Pooping; blood on toilet Paper. Located Posteriorly because this area is Poorly Perfused. Associated with lowfiber diets and constipation
lining of sinusoids
kuppfer cells which are macrophages
Zone I, II and III of liver
Zone I—periportal zone: Affected 1st by viral hepatitis Ingested toxins (eg, cocaine) Zone II—intermediate zone: Yellow fever Zone III—pericentral vein (centrilobular) zone: Affected 1st by ischemia Contains cytochrome P-450 system Most sensitive to metabolic toxins Site of alcoholic hepatitis
femoral triangle
Contains femoral nerve, artery, vein. Venous near the penis
femoral sheath
Fascial tube 3–4 cm below inguinal ligament.
Contains femoral vein, artery, and canal (deep
inguinal lymph nodes) but not femoral nerve
femoral triangle bordered by
bordered by the inguinal ligament (superiorly), adductor longus muscle (medially) and sartorius muscle (laterally)