TRUE RAPID REVIEW Flashcards
What is the mechanism of Lesch-Nyhan syndrome?
Absent HGPRT leading to de novo purine synthesis and uric acid production
This condition is characterized by self-mutilating behavior and neurological deficits.
What mutation causes β-thalassemia?
Mutation at splice site or promoter sequences leading to retained intron in mRNA
This results in reduced or absent production of hemoglobin.
What is the primary defect in Lynch syndrome?
Failure of mismatch repair during the S phase causing microsatellite instability
This syndrome is associated with an increased risk of colorectal and endometrial cancers.
What defect characterizes I-cell disease?
N-acetylglucosaminyl-1-phosphotransferase defect leading to failure of mannose residues phosphorylation
This results in cellular debris accumulation in lysosomes.
What is the cause of Osteogenesis imperfecta?
Type 1 collagen defect due to inability to form triple helices
This condition is commonly known as ‘brittle bone disease’.
What is the genetic basis of Menkes disease?
Defective ATP7A protein leading to impaired copper absorption and transport
This affects lysyl oxidase activity and collagen cross-linking.
What mutation is associated with Marfan syndrome?
FBN1 mutation on chromosome 15 leading to defective fibrillin
Fibrillin normally forms a sheath around elastin, and this defect can affect connective tissue.
What is the genetic mechanism behind Prader-Willi syndrome?
Uniparental disomy or imprinting leading to silencing of maternal gene
The disease is expressed when the paternal allele is deleted or mutated.
What causes Angelman syndrome?
Silenced gene leading to mutation or deletion of UBE3A on maternal chromosome 15
This results in severe developmental delays and neurological problems.
What is the genetic mutation in cystic fibrosis?
Autosomal recessive ΔF508 deletion in CFTR gene on chromosome 7
This mutation impairs the ATP-gated Cl− channel affecting various organs.
What is the result of dystrophin gene mutations in Duchenne muscular dystrophy?
Frameshift mutations leading to loss of anchoring protein to ECM (dystrophin) causing myonecrosis
This condition leads to progressive muscle weakness.
What genetic change is seen in myotonic dystrophy?
CTG trinucleotide repeat expansion in DMPK gene causing abnormal expression of myotonin protein kinase
This results in myotonia, characterized by muscle stiffness.
What is the cause of Fragile X syndrome?
Trinucleotide repeat of CGG in FMR1 gene leading to hypermethylation
This condition is the most common inherited form of intellectual disability.
What are Bitot spots associated with?
Vitamin A deficiency leading to differentiation of epithelial cells into specialized tissue
This results in squamous metaplasia.
What causes Wernicke encephalopathy in alcoholic patients given glucose?
Thiamine deficiency leading to impaired glucose breakdown and ATP depletion
The condition worsens with glucose infusion due to increased demand for thiamine.
What leads to Pellagra in malignant carcinoid syndrome?
Tryptophan is diverted towards serotonin synthesis leading to B3 deficiency
B3 (niacin) is derived from tryptophan, and deficiency causes dermatitis, diarrhea, and dementia.
What is the cause of edema in Kwashiorkor?
Protein malnutrition leading to reduced oncotic pressure
This condition is associated with apolipoprotein synthesis and liver fatty change.
What metabolic change occurs in lactic acidosis during fasting hypoglycemia in alcoholism?
Increased NADH/NAD+ ratio due to ethanol metabolism
This affects gluconeogenesis and lactate clearance.
What is the mechanism behind aspirin-induced hyperthermia?
Permeability of mitochondrial membrane affecting proton gradient and O2 consumption leading to uncoupling
This can result in increased metabolic rate and heat production.
What deficiency causes hereditary fructose intolerance?
Aldolase B deficiency leading to fructose-1-phosphate accumulation
This inhibits glycogenolysis and gluconeogenesis due to phosphate depletion.
What is the genetic basis of classic galactosemia?
Galactose-1-phosphate uridyltransferase deficiency leading to accumulation of toxic substances
This includes galactitol, which can cause cataracts.
What causes cataracts, retinopathy, and peripheral neuropathy in diabetes mellitus?
Lens, retina, Schwann cells lack sorbitol dehydrogenase leading to intracellular sorbitol accumulation and osmotic damage.
What is the cause of recurrent Neisseria bacteremia?
Terminal complement deficiencies (C5–C9) result in failure of MAC formation.
What is hereditary angioedema?
C1 esterase inhibitor deficiency leads to unregulated activation of kallikrein and increased bradykinin.
What is paroxysmal nocturnal hemoglobinuria?
PIGA gene mutation causes a deficiency in GPI anchors for complement inhibitors (DAF/CD55, MIRL/CD59), resulting in complement-mediated intravascular hemolysis.
What characterizes type I hypersensitivity?
Immediate (minutes): antigen cross-links IgE on mast cells leading to degranulation and release of histamine and tryptase. Late (hours): mast cells secrete chemokines and leukotrienes causing inflammation and tissue damage.
What is type II hypersensitivity?
Antibodies bind to cell-surface antigens causing cellular destruction, inflammation, and cellular dysfunction.
What is type III hypersensitivity?
Antigen-antibody complexes activate complement and attract neutrophils.
What is type IV hypersensitivity?
T cell-mediated response (no antibodies involved). CD8+ directly kills target cells, while CD4+ releases cytokines.
What is an acute hemolytic transfusion reaction?
A type II hypersensitivity reaction against donor RBCs, usually involving ABO antigens.
What causes X-linked (Bruton) agammaglobulinemia?
Defect in the BTK gene (tyrosine kinase) leads to no B-cell maturation and absent B cells in peripheral blood.
What is DiGeorge syndrome?
A 22q11 microdeletion results in failure to develop the 3rd and 4th branchial (pharyngeal) pouches.
What causes hyper-IgM syndrome?
Defective CD40L on Th cells leads to a class switching defect.
What is leukocyte adhesion deficiency (type 1)?
LFA-1 integrin (CD18) defect results in impaired phagocyte migration and chemotaxis.
What is Chédiak-Higashi syndrome?
LYST mutation causes microtubule dysfunction and a phagosome-lysosome fusion defect.
What is chronic granulomatous disease?
NADPH oxidase defect leads to reduced ROS and respiratory burst in neutrophils.
What is the cause of Candida infection in immunodeficiency?
Reduced granulocytes (systemic) and reduced T cells (local).
What is graft-versus-host disease?
A type IV hypersensitivity reaction due to HLA mismatch, where donor T cells attack host cells.
What infections are recurrent in chronic granulomatous disease?
Recurrent S aureus, Serratia, and B cepacia infections occur due to catalase-positive organisms degrading H2O2 before it can be converted to microbicidal products by the myeloperoxidase system.
What is hemolytic uremic syndrome?
Shiga/Shiga-like toxins inactivate the 60S ribosome, leading to cytokine release.
What does tetanospasmin do?
It prevents the release of inhibitory neurotransmitters (GABA and glycine) from Renshaw cells.
What does botulism toxin do?
The toxin (protease) cleaves SNARE proteins, resulting in reduced neurotransmitter (ACh) release at the NMJ.
What is gas gangrene?
Alpha toxin (phospholipase/lecithinase) degrades phospholipids, leading to myonecrosis.
What causes toxic shock syndrome and scarlet fever?
TSST-1 and erythrogenic exotoxin A cross-link the β region of TCR to MHC class II on APCs outside of the antigen binding site, leading to cytokine release (IL-1, IL-2, IFN-γ, TNF-α).
What activates macrophages in relation to M tuberculosis?
Cord factor activates macrophages and promotes granuloma formation
Cord factor also induces the release of TNF-α; sulfatides inhibit phagolysosomal fusion.
What is the effect of Diphtheria Exotoxin?
Inhibits protein synthesis via ADP-ribosylation of EF-2
What causes prosthetic device infection?
S epidermidis and biofilm production
What is the primary cause of pseudomembranous colitis?
C difficile and its toxins A and B
What is the mechanism by which C difficile damages enterocytes?
Toxins A and B cause damage leading to watery diarrhea
What is the immune response in tuberculoid leprosy?
Th1 immune response leading to mild symptoms
What is the reason for the lack of an effective vaccine for N gonorrhoeae?
Antigenic variation of pilus proteins
Which bacteria are responsible for cystitis and pyelonephritis?
E coli, specifically through fimbriae (P pili)
What is the role of the K capsule in E coli?
Causes pneumonia and neonatal meningitis
What is the reason for Chlamydiae’s resistance to β-lactam antibiotics?
Lack of classic peptidoglycan and reduced muramic acid
How does influenza pandemics occur?
RNA segment reassortment leading to antigenic shift
What causes influenza epidemics?
Mutations in hemagglutinin and neuraminidase leading to antigenic drift
How does rabies invade the CNS?
Binds to ACh receptors and uses retrograde transport (dynein)
What is the mechanism by which HIV infects cells?
Virus binds CD4 along with CCR5 on macrophages or CXCR4 on T cells
What is the role of macrophages in granulomas?
Present antigens to CD4+ and secrete IL-12 for Th1 differentiation
What allows cancer cells to maintain limitless replicative potential?
Reactivation of telomerase maintains and lengthens telomeres
What is the process of tissue invasion by cancer cells?
Involves E-cadherin function, intercellular junctions, ECM degradation, and locomotion
What is persistent truncus arteriosus?
Failure of aorticopulmonary septum formation
What causes D-transposition of great arteries?
Failure of the aorticopulmonary septum to spiral
What triggers tet spells in tetralogy of Fallot?
Crying, fever, exercise leading to right-to-left shunt and cyanosis
What defines Eisenmenger syndrome?
Uncorrected left-to-right shunt leading to pulmonary hypertension and right-to-left shunting
What are the key steps in the development of atherosclerosis?
Endothelial cell dysfunction, macrophage and LDL accumulation, foam cell formation, and plaque development
What is a thoracic aortic aneurysm?
Cystic medial degeneration.
What causes myocardial infarction?
Rupture of coronary artery atherosclerotic plaque leading to acute thrombosis.
What characterizes non-ST-segment elevation myocardial infarction?
Subendocardial infarcts due to subendocardium being vulnerable to ischemia.
What characterizes ST-segment elevation myocardial infarction?
Transmural infarcts.
What is a common cause of death within 0-24 hours post myocardial infarction?
Ventricular arrhythmia.
What are the causes of death or shock within 3-14 days post myocardial infarction?
Macrophage-mediated ruptures: papillary muscle (2-7 days), interventricular septum (3-5 days), free wall (5-14 days).
What is Wolff-Parkinson-White syndrome?
An abnormal accessory pathway from atria to ventricle that bypasses the AV node, causing ventricles to partially depolarize earlier, leading to a delta wave and reentrant circuit causing supraventricular tachycardia.
What causes hypertrophic obstructive cardiomyopathy?
Sarcomeric proteins gene mutations (myosin binding protein C and β-myosin heavy chain) leading to concentric hypertrophy.
What symptoms are associated with syncope and dyspnea in hypertrophic obstructive cardiomyopathy?
Asymmetric septal hypertrophy and systolic anterior motion of the mitral valve leading to outflow obstruction.
What is hypovolemic shock?
Reduced preload leading to reduced cardiac output.
What is cardiogenic shock?
Reduced cardiac output due to left heart dysfunction.
What is distributive shock?
Reduced systemic vascular resistance (afterload).
What is rheumatic fever?
Antibodies against M protein cross-react with self antigens; it is a type II hypersensitivity reaction.
What is the most common form of congenital adrenal hyperplasia?
21-hydroxylase deficiency leading to reduced mineralocorticoids, reduced cortisol, and increased sex hormones and 17-hydroxyprogesterone.
What are the symptoms of heat intolerance and weight loss in hyperthyroidism?
Increased Na+-K+ ATPase leading to increased basal metabolic rate and calorigenesis.
What is myxedema in hypothyroidism?
Accumulation of carbohydrates in the interstitial space.
What is Graves ophthalmopathy?
Lymphocytic infiltration and fibroblast secretion of glycosaminoglycans leading to osmotic muscle swelling and inflammation.
What causes primary hyperparathyroidism?
Parathyroid adenoma or hyperplasia leading to increased PTH.
What is secondary hyperparathyroidism?
Reduced calcium and/or increased phosphate leading to parathyroid hyperplasia and increased PTH and alkaline phosphatase.
What causes euvolemic hyponatremia in SIADH?
Increased ADH leading to water retention and reduced aldosterone, ANP, BNP, and increased urinary sodium secretion.
What causes small/large vessel disease in diabetes mellitus?
Nonenzymatic glycation of proteins.
What is diabetic ketoacidosis?
Reduced insulin or increased insulin requirement leading to increased fat breakdown, free fatty acids, and ketogenesis.
What characterizes hyperosmolar hyperglycemic state?
Hyperglycemia leading to increased serum osmolality and excessive osmotic diuresis.
What is Zollinger-Ellison syndrome?
A gastrin-secreting tumor (gastrinoma) of the pancreas or duodenum causing recurrent ulcers in the duodenum/jejunum and malabsorption.
What is duodenal atresia?
Failure to recanalize.
What causes jejunal/ileal atresia?
Disruption of the superior mesenteric artery leading to ischemic necrosis of the fetal intestine.
How do you remember the different types of hypersensitivities?
ACID:
A - Allergic (Type I)
C - Cytotoxic (Type II)
I - Immune Complex (Type III)
D - Delayed-Type (Type IV)
AnGST:
A - Anaphylaxis, Asthma, Atopy (Type I)
G - Goodpasture’s disease, Grave’s disease, Myasthenia Gravis (Type II)
S - Systemic lupus erythematosus, Serum sickness (Type III)
T - Tuberculin skin test, Transplant rejection (Type IV)
What is Superior mesenteric artery syndrome?
Compression of transverse (third) portion of duodenum by SMA and aorta.
What causes Achalasia?
Loss of postganglionic inhibitory neurons (contain NO and VIP) in myenteric plexus leads to failure of LES relaxation.
What is Barrett esophagus?
Replacement (metaplasia) of nonkeratinized stratified squamous epithelium with intestinal epithelium (nonciliated columnar with goblet cells).
What is Acute gastritis?
Occurs 2° to NSAIDs due to reduced PGE2 leading to loss of gastric protection.
What is Celiac disease?
Autoimmune-mediated intolerance of gliadin (found in wheat) leading to malabsorption (distal duodenum, proximal jejunum) and steatorrhea.
What causes fistula formation in Crohn’s disease?
Transmural inflammation.
What is Meckel diverticulum?
Persistence of the vitelline (omphalomesenteric) duct.
What is Hirschsprung disease?
Loss of function mutation in RET leads to failure of neural crest migration and lack of ganglion cells/enteric nervous plexuses in distal colon.
What is the adenoma-carcinoma sequence in colorectal cancer?
Loss of APC (reducing intercellular adhesion, increasing proliferation) leads to KRAS mutation (unregulated intracellular signaling) and loss of tumor suppressor genes (TP53, DCC).
What causes fibrosis in cirrhosis?
Stellate cells.
What is Reye syndrome?
Aspirin inhibits β-oxidation by reversible inhibition of mitochondrial enzymes.
What is hepatic encephalopathy?
Occurs due to cirrhosis, portosystemic shunts, and reduced NH3 metabolism.
What is α1-antitrypsin deficiency?
Misfolded proteins aggregate in hepatocellular ER leading to cirrhosis. In lungs, reduced α1-antitrypsin leads to uninhibited elastase in alveoli causing panacinar emphysema.
What is Wilson disease?
Mutated hepatocyte copper-transporting ATPase (ATP7B on chromosome 13) leads to reduced copper incorporation into apoceruloplasmin, excretion into bile, and reduced serum ceruloplasmin, increasing copper in tissues and urine.
What is hemochromatosis?
HFE mutation on chromosome 6 reduces hepcidin production, increasing intestinal absorption and leading to iron overload (increased ferritin, iron, reduced TIBC, increased transferrin saturation).
What is gallstone ileus?
Fistula between gallbladder and GI tract allows stone to enter GI lumen, obstructing ileocecal valve (narrowest point).
What is acute cholangitis?
Biliary tree obstruction leads to stasis and bacterial overgrowth.
What is acute pancreatitis?
Autodigestion of pancreas by pancreatic enzymes.
What is Rh hemolytic disease of the newborn?
Rh negative mother forms antibodies (maternal anti-D IgG) against RBCs of Rh positive fetus.
What causes anemia in lead poisoning?
Lead inhibits ferrochelatase and ALA dehydratase, reducing heme synthesis and increasing RBC protoporphyrin.
What is anemia of chronic disease?
Inflammation increases hepcidin, reducing release of iron from macrophages and iron absorption from gut.
What is G6PD deficiency?
Defect in G6PD reduces NADPH and glutathione, increasing RBC susceptibility to oxidant stress.
What causes sickle cell anemia?
Point mutation substitutes glutamic acid with valine in β chain; low O2, high altitude, and acidosis precipitate sickling (deoxygenated HbS polymerizes), leading to anemia and vaso-occlusive disease.
What is Bernard-Soulier syndrome?
Reduced GpIb leads to impaired platelet-to-vWF adhesion.
What is Glanzmann thrombasthenia?
Defective platelet-to-platelet aggregation and platelet plug formation.
What causes Thrombotic thrombocytopenic purpura?
Deficiency of ADAMTS13 leads to degradation of vWF multimers, resulting in impaired platelet adhesion and aggregation.
What is von Willebrand disease?
A disorder caused by a deficiency in vWF, affecting platelet-to-vWF adhesion and possibly leading to prolonged PTT.
What is Factor V Leiden?
A mutant form of factor V (Arg506Gln) that is resistant to degradation by protein C.
What is a common cause of axillary nerve injury?
Fractured surgical neck or anterior dislocation of the humerus, leading to a fattened deltoid.
What causes radial nerve injury (Saturday night palsy)?
Compression of the axilla (e.g., from crutches), midshaft humerus fracture, or repetitive forearm pronation/supination, resulting in wrist/finger drop and decreased grip strength.
What are the effects of median nerve injury?
Proximal lesion (supracondylar fracture) leads to loss of sensation over the thenar eminence and lateral 3½ fingers; distal lesion (carpal tunnel syndrome) also affects these areas.
What happens with ulnar nerve injury?
Proximal lesion (fractured medial epicondyle) causes radial deviation of the wrist on flexion; distal lesion (fractured hook of hamate) results in ulnar claw on digital extension.
What is Erb palsy?
A condition caused by traction or tear of C5-C6 roots during delivery or trauma in adults, resulting in characteristic arm positioning.
What is Klumpke palsy?
A condition caused by traction or tear of C8-T1 roots during delivery or trauma, often associated with trying to grab a branch.
What causes winged scapula?
Injury to the long thoracic nerve (C5-C7), often during axillary node dissection in mastectomy.
What is a common cause of common peroneal nerve injury?
Trauma to the lateral aspect of the leg or fracture of the fibular neck, leading to foot drop with steppage gait.
What is superior gluteal nerve injury?
Iatrogenic injury during IM injection at the gluteal region, causing Trendelenburg sign.
What causes pudendal nerve injury?
Injury during horseback riding or prolonged cycling; can be blocked during delivery at the ischial spine.
What is radial head subluxation?
Also known as nursemaid’s elbow, it occurs due to a sudden pull on the arm in children.
What is slipped capital femoral epiphysis?
A condition in obese young adolescents characterized by hip/knee pain and displacement of the epiphysis relative to the femoral neck.
What causes achondroplasia?
Constitutive activation of FGFR3 leads to impaired chondrocyte proliferation and failure of endochondral ossification, resulting in short limbs.
What is osteoporosis?
A condition characterized by increased osteoclast activity leading to bone resorption, often due to low estrogen levels and aging.
What is osteopetrosis?
Caused by carbonic anhydrase II mutations, leading to impaired osteoclast function, dense bones, and increased fracture risk.
What is osteitis deformans?
A condition characterized by increased osteoclast activity followed by osteoblast activity, resulting in poor quality bone that is prone to fractures.
What is osteoarthritis?
Mechanical degeneration of articular cartilage causing inflammation with inadequate repair and osteophyte formation.
What is rheumatoid arthritis?
Autoimmune inflammation due to HLA-DR4 causing pannus formation. Type III Hypersensitivity reaction.
What is Sjogren syndrome?
Autoimmune Type IV hypersensitivity reaction leading to lymphocyte mediated damage of exocrine glands.
What is systemic lupus erythematosus?
Predominantly a Type III hypersensitivity reaction with decreased clearance of immune complexes. Hematologic manifestations are a type II hypersensitivity reaction.
What causes blindness in giant cell (temporal) arteritis?
Ophthalmic artery occlusion.
What is myasthenia gravis?
Autoantibodies to postsynaptic nicotinic (ACh) receptors.
What is Lambert-Eaton myasthenic syndrome?
Autoantibodies to presynaptic calcium channels impair ACh release.
What is albinism?
Normal melanocyte number, reduced melanin production.
What is vitiligo?
Autoimmune destruction of melanocytes.
What is atopic dermatitis?
Epidermal barrier dysfunction, genetic factors, immune dysregulation, altered skin microbiome, environmental triggers of inflammation.
What is allergic contact dermatitis?
Type IV HSR. During the sensitization phase, allergen activates Th1 cells; memory CD4+ and CD8+ cells form. Upon reexposure, CD4+ cells release cytokines and CD8+ cells kill targeted cells.
What is psoriasis?
Disrupted skin barrier activates dendritic cells via inflammatory cytokines (IL-1B, IL-6, TNF); activated dendritic cells release IL-23; naive T cells form Th1 (IL-12) and Th17 (IL-23) cells that secrete IFN-y and IL-17A/IL-22 respectively.
What is pemphigus vulgaris?
Type II HSR. IgG autoantibodies form against desmoglein 1 and 3 in desmosomes, leading to separation of keratinocytes in stratum spinosum.
What is bullous pemphigoid?
Type II HSR. IgG autoantibodies against hemidesmosomes cause separation of epidermis from dermis.
What causes spina bifida occulta, meningocele, myelomeningocele, and myeloschisis?
Failure of caudal neuropore to fuse by 4th week of development.
What is anencephaly?
Failure of rostral neuropore to close, resulting in no forebrain and open calvarium.
What is holoprosencephaly?
Failure of the forebrain (prosencephalon) to divide into 2 cerebral hemispheres; developmental field defect typically occurring at weeks 3-4 of development; associated with SHH mutations.
What is lissencephaly?
Failure of neuronal migration resulting in a smooth brain surface lacking sulci and gyri.
What is Chiari I malformation?
Downward displacement of cerebellar tonsils inferior to foramen magnum.
What is Chiari II malformation?
Herniation of cerebellum (vermis and tonsils) and medulla through foramen magnum causing noncommunicating hydrocephalus.
What is Dandy-Walker malformation?
Agenesis of cerebellar vermis leading to cystic enlargement of the 4th ventricle that fills the enlarged posterior fossa; associated with noncommunicating hydrocephalus.
What is Syringomyelia?
Fluid-filled, gliosis-lined cavity within spinal cord, associated with Chiari I malformation (low-lying cerebellar tonsils), less commonly with infections, tumors, trauma.
What is Gerstmann syndrome?
Lesion in the dominant parietal cortex causing agraphia, acalculia, finger agnosia, left-right disorientation.
What is Hemispatial neglect syndrome?
Lesion in the nondominant parietal cortex.
What is Klüver-Bucy syndrome?
Bilateral lesions in the amygdala; seen in HSV-1 encephalitis causing disinhibition, including hyperphagia, hypersexuality, hyperorality.
What is Parinaud syndrome?
Inability to move eyes up and down due to lesion in the dorsal midbrain; often due to pineal gland tumors.
What is Cerebral edema?
Fluid accumulation in the brain parenchyma; may be cytotoxic or vasogenic.
What is Aphasia?
Stroke in dominant (usually left) hemisphere, affecting either the superior temporal gyrus (Wernicke; receptive aphasia) or inferior frontal gyrus (Broca; expressive aphasia).
What is Locked-in syndrome?
Loss of horizontal, but not vertical, eye movements due to stroke of the basilar artery.
What is Lateral pontine syndrome?
Stroke of the anterior inferior cerebellar artery.
What is Lateral medullary (Wallenberg) syndrome?
Stroke of the posterior inferior cerebellar artery.
What is Medial medullary syndrome?
Stroke of the anterior spinal artery.
What is Neonatal intraventricular hemorrhage?
Reduced glial fiber support and impaired autoregulation of BP in premature infants causing bleeding into the ventricles, originating in the germinal matrix.
What is Epidural hematoma?
Rupture of middle meningeal artery, often secondary to skull fracture involving the pterion.
What is Subdural hematoma?
Rupture of bridging veins; can be acute (traumatic) or chronic (mild trauma, cerebral atrophy, age, chronic alcohol overuse, shaken baby syndrome).
What is Subarachnoid hemorrhage?
Caused by trauma, rupture of aneurysm, or arteriovenous malformation leading to bleeding.
What is Intraparenchymal hemorrhage?
Often due to systemic hypertension, amyloid angiopathy, arteriovenous malformation, or vasculitis, leading to bleeding.
What is Phantom limb pain?
Most commonly follows amputation; sensation of pain in a limb that is no longer present due to reorganization of primary somatosensory cortex.
What is Diffuse axonal injury?
Traumatic shearing of white matter tracts during rapid acceleration and/or deceleration of the brain, often causing neurologic injury.
What is conduction aphasia?
Damage to the arcuate fasciculus.
What is global aphasia?
Damage to both Broca (inferior frontal gyrus of frontal lobe) and Wernicke (superior temporal gyrus of temporal lobe) areas.
What is heat stroke?
Inability of body to dissipate heat (e.g., exertion) leading to CNS dysfunction (e.g., confusion), rhabdomyolysis, acute kidney injury, ARDS, DIC.
What causes migraines?
Irritation of CN V, meninges, or blood vessels (release of vasoactive neuropeptides, e.g., substance P, calcitonin gene-related peptide).
What characterizes Parkinson disease?
Loss of dopaminergic neurons of substantia nigra pars compacta.
What is Huntington disease?
Trinucleotide (CAG) repeat expansion in huntingtin (HTT) gene on chromosome 4 leading to toxic gain of function, atrophy of caudate and putamen with ex vacuo ventriculomegaly, and neuronal death via glutamate excitotoxicity.
What are the features of Alzheimer disease?
Widespread cortical atrophy, narrowing of gyri and widening of sulci; senile plaques in gray matter composed of beta-amyloid core; neurofibrillary tangles composed of intracellular, hyperphosphorylated tau protein; Hirano bodies.
What is frontotemporal dementia?
Frontotemporal lobe degeneration affecting executive function and behavioral inhibition.
What is vascular dementia?
Multiple arterial infarcts and/or chronic ischemia.
What is HIV-associated dementia?
Secondary to diffuse gray matter and subcortical atrophy.
What is idiopathic intracranial hypertension?
Increased ICP, associated with dural venous sinus stenosis; impaired optic nerve axoplasmic flow leading to papilledema.
What is communicating hydrocephalus?
Reduced CSF absorption by arachnoid granulations (e.g., arachnoid scarring post-meningitis) leading to increased ICP, papilledema, and herniation.
What is normal pressure hydrocephalus?
Idiopathic condition where CSF pressure is elevated only episodically, with no decrease in subarachnoid space volume; expansion of ventricles distorts the fibers of the corona radiata.
What is noncommunicating hydrocephalus?
Structural blockage of CSF circulation within the ventricular system (e.g., stenosis of aqueduct of Sylvius, colloid cyst blocking foramen of Monro, tumor).
What is ex vacuo ventriculomegaly?
Decreased brain tissue and neuronal atrophy leading to the appearance of increased CSF on imaging.
What characterizes multiple sclerosis?
Autoimmune inflammation and demyelination of CNS (brain and spinal cord) leading to axonal damage.
What is osmotic demyelination syndrome?
Rapid osmotic changes, most commonly iatrogenic correction of hyponatremia, leading to massive axonal demyelination in pontine white matter.
What is acute inflammatory demyelinating polyneuropathy?
Autoimmune destruction of Schwann cells via inflammation and demyelination of motor and sensory fibers and peripheral nerves, likely facilitated by molecular mimicry and triggered by inoculations or stress.
What is Charcot-Marie-Tooth disease?
Defective production of proteins involved in the structure and function of peripheral nerves or the myelin sheath.
What is progressive multifocal leukoencephalopathy?
Destruction of oligodendrocytes secondary to reactivation of latent JC virus infection leading to demyelination of CNS.
What is Sturge-Weber syndrome?
Somatic mosaicism of an activating mutation in one copy of the GNAQ gene, characterized by congenital anomaly of neural crest derivatives, capillary vascular malformation, ipsilateral leptomeningeal angioma with calcifications, and episcleral hemangioma.
What is a pituitary adenoma?
Hyperplasia of only one type of endocrine cells found in the pituitary, most commonly from lactotrophs, producing prolactin.
What is spinal muscular atrophy?
Congenital degeneration of anterior horns.
What causes amyotrophic lateral sclerosis?
Can be caused by a defect in superoxide dismutase 1.
What is tabes dorsalis?
Degeneration/demyelination of dorsal columns and roots, leading to progressive sensory ataxia (impaired proprioception and poor coordination).
How does poliomyelitis spread?
Poliovirus infection spreads from lymphoid tissue of oropharynx to small intestine and then to CNS via bloodstream, causing destruction of cells in the anterior horn of the spinal cord (LMN death).
What is Friedreich ataxia?
A trinucleotide repeat disorder (GAA) on chromosome 9 in the gene that encodes frataxin (iron-binding protein), leading to impairment in mitochondrial functioning and degeneration of lateral corticospinal tract, spinocerebellar tract, dorsal columns, and dorsal root ganglia.
What causes noise-induced hearing loss?
Damage to stereociliated cells in the organ of Corti, resulting in loss of high-frequency hearing first; sudden extremely loud noises can lead to tympanic membrane rupture.
What is presbycusis?
Destruction of hair cells at the cochlear base, leading to aging-related progressive bilateral/symmetric sensorineural hearing loss, often of higher frequencies.
What is cholesteatoma?
Abnormal growth of keratinized squamous epithelium in the middle ear.
What characterizes Ménière disease?
Increased endolymph in the inner ear, causing vertigo, hearing loss, tinnitus, and ear fullness.
What is hyperopia?
The eye is too short for the refractive power of the cornea and lens, causing light to be focused behind the retina.
What is myopia?
The eye is too long for the refractive power of the cornea and lens, causing light to be focused in front of the retina.
What is astigmatism?
Abnormal curvature of the cornea, resulting in different refractive power at different axes.
What is presbyopia?
Aging-related impaired accommodation, primarily due to reduced lens elasticity.
What is glaucoma?
Optic neuropathy causing progressive vision loss (peripheral to central), usually accompanied by increased intraocular pressure.
What is open-angle glaucoma?
Associated with increased resistance to aqueous humor drainage through the trabecular meshwork.
What is angle-closure glaucoma?
Anterior chamber angle is narrowed or closed; associated with anatomic abnormalities, leading to obstruction of drainage pathways by the iris.
What causes diabetic retinopathy?
Chronic hyperglycemia leading to increased permeability and occlusion of retinal vessels, resulting in microaneurysms and hemorrhages (nonproliferative); retinal neovascularization due to chronic hypoxia (proliferative).
What is hypertensive retinopathy?
Chronic hypertension causing spasm, sclerosis, and fibrinoid necrosis of retinal vessels.
What is retinal artery occlusion?
Blockage of central or branch retinal artery, usually due to embolism, less commonly due to giant cell arteritis.
What is retinal vein occlusion?
Primary thrombosis of the central retinal vein; secondary thrombosis at arteriovenous crossings.
What is retinal detachment?
Separation of neurosensory retina from underlying retinal pigment epithelium, leading to loss of choroidal blood supply and degeneration of photoreceptors.
What is retinitis pigmentosa?
Progressive degeneration of photoreceptors and retinal pigment epithelium.
What causes papilledema?
Increased intracranial pressure (ICP) leading to impaired axoplasmic flow in the optic nerve and optic disc swelling.
What is a relative afferent pupillary defect?
Unilateral or asymmetric lesions of the afferent limb of the pupillary reflex.
What is Horner syndrome?
Lesions along the sympathetic chain affecting different neurons.
What is cavernous sinus syndrome?
Secondary to pituitary tumor mass effect, carotid-cavernous fistula, or cavernous sinus thrombosis related to infection.
What is delirium?
Usually secondary to illnesses or medications.
What is schizophrenia?
Altered dopaminergic activity, with changes in serotonergic activity and dendritic activity.
What is distal renal tubular acidosis (type 1)?
Inability of α-intercalated cells to secrete H+, leading to no new HCO3– generated and metabolic acidosis.
What is proximal renal tubular acidosis (type 2)?
Defective PCT HCO3– reabsorption leading to excretion of HCO3– in urine and metabolic acidosis.
What is hyperkalemic tubular acidosis (type 4)?
Hypoaldosteronism/aldosterone resistance leading to increased K+ and NH3 synthesis in PCT and increased NH4+ excretion.
What is nephritic syndrome?
Glomerular inflammation leading to GBM damage and loss of RBCs in urine.
What is nephrotic syndrome?
Podocyte damage leading to impaired charge barrier and proteinuria.
What is nephritic-nephrotic syndrome?
Severe GBM damage leading to loss of RBCs in urine and impaired charge barrier, resulting in hematuria and proteinuria.
Infection-associated glomerulonephritis
Type III HSR with consumptive hypocomplementemia
Alport syndrome
Type IV collagen mutation (X-linked dominant)
irregular thinning and thickening and splitting of GBM; nephritic syndrome
Stress incontinence
Outlet incompetence (urethral hypermobility/intrinsic sphincter deficiency)
leak on q intraabdominal pressure
Urge incontinence
Detrusor overactivity
leak with urge to void
Overflow incontinence
Incomplete emptying (detrusor underactivity or outlet obstruction)
leak with overfilling
Prerenal azotemia
r RBF
r GFR; q reabsorption of Na+/H2O and urea
Intrinsic renal failure
Patchy necrosis
debris obstructing tubules and fluid backflow; r GFR
Postrenal azotemia
Outflow obstruction (bilateral)
Adnexal torsion
Twisting of ovary/fallopian tube around infundibulopelvic ligament and ovarian ligament
venous/lymphatic blockage; arterial inflow continued; edema; blockade of arterial inflow; necrosis
Preeclampsia
Abnormal placental spiral arteries
endothelial dysfunction, vasoconstriction, ischemia; new-onset HTN with proteinuria
Supine hypotensive syndrome
Supine position
compressed abdominal aorta and IVC by gravid uterus; r placental perfusion and r venous return
Functional hypothalamic amenorrhea
Severe caloric restriction, q energy expenditure, and/or stress
altered pulsatile GnRH secretion; r LH, FSH, estrogen
Polycystic ovarian syndrome
Hyperinsulinemia and/or insulin resistance
altered hypothalamic feedback response; q LH:FSH; q androgens; r rate of follicular maturation; unruptured follicles (cysts) + anovulation
Varicocele
Dilated veins in pampiniform plexus due to q venous pressure
enlarged scrotum
Methemoglobin
Oxidized Hb secondary to dapsone, local anesthetics, nitrites
Hb oxidization (Fe2+); r O2 binding but q cyanide affinity; tissue hypoxia
Deep venous thrombosis
Stasis, hypercoagulability, endothelial damage (Virchow triad)
blood clot within deep vein
Sarcoidosis associated hypercalcemia
Noncaseating granulomas
q macrophage activity; q 1α-hydroxylase activity in macrophage; vitamin D activation; q Ca2+
Acute respiratory distress syndrome
Alveolar injury
inflammation; capillary endothelial damage and q vessel permeability; leakage of protein-rich fluid into alveoli; intra-alveolar hyaline membranes and noncardiogenic pulmonary edema; r compliance and V/Q mismatch; hypoxic vasoconstriction; q pulmonary vascular resistance
Sleep apnea
Respiratory effort against airway obstruction (obstructive); impaired respiratory effort due to CNS injury/toxicity, CHF, opioids (central); obesity
hypoventilation; q PaCO2 during waking hours
Lesch-Nyhan syndrome
Gout, intellectual disability, self-mutilating behavior in a boy
HGPRT deficiency, X-linked recessive
Primary ciliary dyskinesia
Situs inversus, chronic ear infections, sinusitis, bronchiectasis, infertility
Osteogenesis imperfecta
Blue sclera, multiple fractures, dental problems, conductive hearing loss
type I collagen defect
Ehlers-Danlos syndrome
Elastic skin, hypermobility of joints, q bleeding tendency
type V collagen defect, type III collagen defect seen in vascular subtype of ED
Marfan syndrome
Arachnodactyly, lens dislocation (upward and temporal), aortic dissection, hyperflexible joints
fibrillin defect
Homocystinuria
Arachnodactyly, pectus deformity, lens dislocation (downward)
autosomal recessive
McCune-Albright syndrome
Café-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
Gs-protein activating mutation
Cystic fibrosis
Meconium ileus in neonate, recurrent pulmonary infections, nasal polyps, pancreatic insufficiency, infertility/subfertility
CFTR gene defect, chromosome 7, ∆F508
Muscular dystrophy
Calf pseudohypertrophy
most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene
Duchenne muscular dystrophy
Child uses arms to stand up from squat
Gowers sign
Becker muscular dystrophy
Slow, progressive muscle weakness in boys
X-linked non-frameshift deletions in dystrophin; less severe than Duchenne
Patau syndrome
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
trisomy 13
Edwards syndrome
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
trisomy 18
Down syndrome
Single palmar crease, intellectual disability
Cri-du-chat syndrome
Microcephaly, high-pitched cry, intellectual disability
Wernicke encephalopathy
Confusion, ophthalmoplegia/nystagmus, ataxia
add confabulation/memory loss for Korsakoff syndrome
Wet beriberi
Dilated cardiomyopathy/high-output heart failure, edema, alcoholism or malnutrition
thiamine [vitamin B1] deficiency
Burning feet syndrome
Vitamin B5 deficiency
Pellagra
Dermatitis, dementia, diarrhea
niacin [vitamin B3] deficiency
Scurvy
Swollen gums, mucosal bleeding, poor wound healing, petechiae, corkscrew hairs, perifollicular hemorrhages
vitamin C deficiency: can’t hydroxylate proline/lysine for collagen synthesis; tea and toast diet
Rickets
Bowlegs (children), bone pain, and muscle weakness
vitamin D deficiency
Hemorrhagic disease of newborn
with q PT, q aPTT
Vitamin K deficiency
What are the symptoms of Phenylketonuria?
Intellectual disability, musty body odor, hypopigmented skin, eczema
What are the symptoms of Alkaptonuria?
Bluish-black connective tissue, ear cartilage, sclerae; urine turns black on prolonged exposure to air
What are the symptoms of Cori disease?
Infant with hypoglycemia, hepatomegaly, cardiomyopathy
What are the symptoms of von Gierke disease?
Infant with hypoglycemia, hepatomegaly, cardiomyopathy
What are the symptoms of McArdle disease?
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
What are the symptoms of Tay-Sachs disease?
Cherry-red spots on macula
What are the symptoms of Niemann-Pick disease?
Cherry-red spots on macula; hepatosplenomegaly
What are the symptoms of Gaucher disease?
Hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of femoral head, bone crises
What are the symptoms of Familial hypercholesterolemia?
Achilles tendon xanthoma
What are the symptoms of Bruton disease?
Male child, recurrent infections, no mature B cells
What are the symptoms of IgA deficiency?
Anaphylaxis following blood transfusion
What are the symptoms of Hyper-IgE syndrome?
Recurrent cold (noninflamed) abscesses, eczema, high serum IgE, eosinophils
What are the symptoms of Leukocyte adhesion deficiency (type 1)?
Late separation (>30 days) of umbilical cord, no pus, recurrent skin and mucosal bacterial infections
What are the symptoms of Chronic granulomatous disease?
Recurrent infections and granulomas with catalase positive organisms
What are the symptoms of Staphylococcal toxic shock syndrome?
Fever, vomiting, diarrhea, desquamating rash following use of nasal pack or tampon
What are the symptoms of Scarlet fever?
Strawberry tongue; sandpaper rash
What are the symptoms of Streptococcus bovis infection?
Colon cancer associated with infective endocarditis
What are the symptoms of Clostridium botulinum infection?
Flaccid paralysis in newborn after ingestion of honey
What are the symptoms of Clostridioides difficile infection?
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
What are the symptoms of Corynebacterium diphtheriae infection?
Tonsillar pseudomembrane with ‘bull’s neck’ appearance
What are the symptoms of Pott disease?
Back pain, fever, night sweats
What are the symptoms of Waterhouse-Friderichsen syndrome?
Adrenal insufficiency, fever, bilateral adrenal hemorrhage
What are the symptoms of Klebsiella pneumoniae pneumonia?
Red ‘currant jelly’ sputum in patients with alcohol overuse or diabetes
What are the symptoms of Jarisch-Herxheimer reaction?
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
What are the symptoms of Lyme disease?
Large rash with bull’s-eye appearance
What are the symptoms of primary syphilis?
Ulcerated genital lesion: nonpainful, indurated chancre
What are the symptoms of secondary syphilis?
Smooth, moist, painless, wartlike white lesions on genitals
What are the symptoms of Neurosyphilis?
Pupil accommodates but doesn’t react to light
What are the symptoms of Pasteurella multocida infection?
Dog or cat bite resulting in infection (cellulitis, osteomyelitis)
What are the symptoms of Mycoplasma pneumoniae infection?
Atypical ‘walking pneumonia’ with x-ray looking worse than the patient
What are the symptoms of Coxsackie A infection?
Rash on palms and soles
What are the symptoms of Mucor or Rhizopus fungal infection?
Black eschar on face of patient with diabetic ketoacidosis and/or neutropenia
What are the symptoms of Congenital toxoplasmosis?
Chorioretinitis, hydrocephalus, intracranial calcifications
What are the symptoms of Hookworm infection?
Pruritus, serpiginous rash after walking barefoot
What are the symptoms of Erythema infectiosum?
Child with fever later develops red rash on face that spreads to body
What are the symptoms of Measles?
Fever, cough, conjunctivitis, coryza, diffuse rash
What are Koplik spots?
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
What are the symptoms of Aortic regurgitation?
Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing
What are the symptoms of Aortic stenosis?
Systolic ejection murmur (crescendo-decrescendo), narrow pulse pressure, pulsus parvus et tardus
What are the symptoms of Patent ductus arteriosus (PDA)?
Continuous ‘machinelike’ heart murmur
What are the symptoms of Angina?
Chest pain on exertion
What are the symptoms of NSTEMI?
Chest pain with ST depressions on ECG
What are the symptoms of Postcardiac injury syndrome?
Chest pain, pericardial effusion/friction rub, persistent fever following MI
What are the symptoms of cardiac tamponade?
Distant heart sounds, distended neck veins, hypotension
What are Osler nodes?
Painful, raised red lesions on pads of fingers/toes
What are Janeway lesions?
Painless erythematous lesions on palms and soles
What are the symptoms of Infective endocarditis?
Splinter hemorrhages in fingernails
What are Roth spots?
Retinal hemorrhages with pale centers
What are the symptoms of Hereditary hemorrhagic telangiectasia?
Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
What are the symptoms of diabetes insipidus?
Polyuria, polydipsia
What condition is indicated by no lactation postpartum, absent menstruation, and cold intolerance?
Sheehan syndrome (severe postpartum hemorrhage leading to pituitary infarction)
Page 343
What are the symptoms of hyperthyroidism?
Heat intolerance, weight loss, palpitations
Page 344
What are the symptoms of hypothyroidism?
Cold intolerance, weight gain, brittle hair
Page 344
What condition is characterized by cutaneous/dermal edema due to deposition of mucopolysaccharides?
Myxedema (caused by hypothyroidism or hyperthyroidism [Graves disease])
Page 344
What sign indicates hypocalcemia with facial muscle spasm upon tapping?
Chvostek sign
Page 348
What sign indicates hypocalcemia with carpal spasm upon inflation of a BP cuff?
Trousseau sign
Page 348
What condition is indicated by rapid, deep, labored breathing?
Diabetic ketoacidosis (Kussmaul respirations)
Page 351
What are the symptoms of chronic primary adrenal insufficiency?
Skin hyperpigmentation, orthostatic hypotension, fatigue, weakness, muscle aches, weight loss, GI disturbances
Page 353
What condition presents with shock, altered mental status, vomiting, and abdominal pain in a patient under glucocorticoid therapy?
Acute adrenal insufficiency (adrenal crisis)
Page 353
What tumors are associated with MEN1?
Pancreatic, pituitary, parathyroid tumors
Page 356
What conditions are associated with MEN2A?
Medullary thyroid carcinoma, parathyroid hyperplasia, pheochromocytoma
Page 356
What conditions are associated with MEN2B?
Medullary thyroid carcinoma, pheochromocytoma, mucosal neuromas, marfanoid habitus
Page 356
What syndrome is indicated by cutaneous flushing, diarrhea, bronchospasm, and heart murmur?
Carcinoid syndrome (q urinary 5-HIAA); indicates systemic dissemination (eg, post liver metastases)
Page 357
What sign indicates distal malignant obstruction of the biliary tree?
Courvoisier sign (painless jaundice with enlarged gallbladder)
Pages 375, 405
What condition is indicated by vomiting blood following gastroesophageal lacerations?
Mallory-Weiss syndrome (alcohol use disorder, bulimia nervosa)
Page 384
What syndrome is characterized by dysphagia, glossitis, and iron deficiency anemia?
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
Page 384
What does an enlarged, hard left supraclavicular node indicate?
Virchow node (metastasis from abdominal malignancy)
Page 386
What condition is indicated by hematemesis and melena?
Upper GI bleeding (eg, peptic ulcer disease)
Page 387
What condition is indicated by hematochezia?
Lower GI bleeding (eg, colonic diverticulosis)
Page 387
What are the symptoms of Whipple disease?
Arthralgias, cardiac and neurological symptoms, diarrhea
Page 388
What sign indicates acute appendicitis with severe RLQ pain upon palpation of LLQ?
Rovsing sign
Page 390
What sign indicates acute appendicitis with severe RLQ pain and deep tenderness?
McBurney sign
Page 390
What syndrome is characterized by hamartomatous GI polyps and hyperpigmented macules?
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; q breast/GI cancer risk)
Page 394
What syndrome is indicated by multiple colon polyps and osteomas/soft tissue tumors?
Gardner syndrome (subtype of FAP)
Page 394
What condition is indicated by severe jaundice in a neonate?
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
Page 401
What condition is indicated by golden brown rings around the peripheral cornea?
Wilson disease (Kayser-Fleischer rings due to copper accumulation)
Page 402
What is the classic presentation of cholelithiasis?
Female, fat (obese), fertile (multiparity), forty, fair
Page 403
What condition presents with painless jaundice and an enlarged gallbladder?
Cancer of pancreatic head obstructing the bile duct
Page 405
What sign indicates lead poisoning?
Burton line (bluish line on gingiva)
Page 425
What condition is indicated by short stature, café-au-lait spots, and thumb/radial defects?
Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)
Page 427
What condition is indicated by red/pink urine and fragile RBCs?
Paroxysmal nocturnal hemoglobinuria
Page 428
What condition is indicated by painful blue fingers/toes and hemolytic anemia?
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL)
Page 429
What are the symptoms of platelet disorders?
Petechiae, mucosal bleeding, prolonged bleeding time
Page 432
What are the B symptoms of malignancy?
Fever, night sweats, weight loss
Page 434
What condition is characterized by skin patches/plaques and atypical T cells?
Mycosis fungoides (cutaneous T-cell lymphoma) or Sézary syndrome (mycosis fungoides + malignant T cells in blood)
Page 435
What condition is indicated by a neonate with arm paralysis following a difficult birth?
Erb-Duchenne palsy (superior trunk [C5–C6] brachial plexus injury)
Page 452
What sign indicates an anterior cruciate ligament injury?
Anterior drawer sign ⊕
Page 455
What condition is indicated by bone pain and chalk-stick fractures?
Osteitis deformans (Paget disease of bone, q osteoblastic and osteoclastic activity)
Page 468
What condition is indicated by swollen, hard, painful finger joints in an elderly individual?
Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])
Page 472
What condition is indicated by a sudden swollen/painful big toe joint?
Gout/podagra (hyperuricemia)
Page 473
What are the symptoms of Sjögren syndrome?
Dry eyes, dry mouth, arthritis
Page 474
What condition is associated with urethritis, conjunctivitis, and arthritis in a male?
Reactive arthritis associated with HLA-B27
Page 475
What condition is indicated by a butterfly facial rash, arthritis, cytopenia, and fever in a young female?
Systemic lupus erythematosus
Page 476
What condition is characterized by cervical lymphadenopathy, desquamating rash, and coronary aneurysms?
Kawasaki disease (mucocutaneous lymph node syndrome, treat with IVIG and aspirin)
Page 478
What condition is indicated by palpable purpura on buttocks/legs, joint pain, and abdominal pain in a child?
Immunoglobulin A vasculitis (Henoch-Schönlein purpura, affects skin and kidneys)
Page 479
What phenomenon is characterized by painful fingers/toes changing color from white to blue to red?
Raynaud phenomenon (vasospasm in extremities)
Page 480
What condition is indicated by dark purple skin/mouth nodules in a patient with AIDS?
Kaposi sarcoma, associated with HHV-8
Page 486
What condition is characterized by pruritic, purple, polygonal planar papules and plaques?
Lichen planus
Page 491
What sign indicates an upper motor neuron lesion?
Babinski sign (dorsiflexion of large toe with fanning of other toes upon plantar scrape)
Pages 525, 545
What are the symptoms of a cerebellar lesion?
Truncal ataxia, nystagmus, head tilting, fall towards injured side
Page 5
What syndrome is characterized by hyperphagia, hypersexuality, and hyperorality?
Klüver-Bucy syndrome (bilateral amygdala lesion)
Page 526
What clinical presentation includes resting tremor, athetosis, and chorea?
Basal ganglia lesion
Page 526
What syndrome presents with dysphagia, hoarseness, and nystagmus?
Lateral medullary (Wallenberg) syndrome (posterior inferior cerebellar artery lesion)
Page 529
What condition is indicated by a lucid interval after traumatic brain injury?
Epidural hematoma (middle meningeal artery rupture; branch of maxillary artery)
Page 530
What is described as the ‘worst headache of my life’?
Subarachnoid hemorrhage
Page 530
What disease is characterized by resting tremor, rigidity, and shuffling gait?
Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)
Page 536
What condition involves chorea, dementia, and caudate degeneration?
Huntington disease (autosomal dominant CAG repeat expansion)
Page 536
What clinical presentation includes urinary incontinence and gait apraxia?
Normal pressure hydrocephalus
Page 538
What condition is characterized by relapsing and remitting nystagmus and intention tremor?
Multiple sclerosis
Page 539
What syndrome presents with rapidly progressive limb weakness after a GI infection?
Guillain-Barré syndrome (acute inflammatory demyelinating polyneuropathy)
Page 540
What condition is associated with café-au-lait spots and Lisch nodules?
Neurofibromatosis type I
Page 541
What is a vascular birthmark (port-wine stain) of the face called?
Nevus flammeus (benign, but associated with Sturge-Weber syndrome)
Page 541
What disease includes renal cell carcinoma and hemangioblastomas?
von Hippel-Lindau disease (deletion of VHL on chromosome 3p)
Page 541
What condition is characterized by bilateral vestibular schwannomas?
Neurofibromatosis type II
Page 541
What signs indicate upper motor neuron damage?
Hyperreflexia, hypertonia, Babinski sign present
Page 545
What signs indicate lower motor neuron damage?
Hyporeflexia, hypotonia, atrophy, fasciculations
Page 545
What condition presents with staggering gait and frequent falls?
Friedreich ataxia
Page 547
What condition involves unilateral facial drooping involving the forehead?
LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead
Page 548
What condition is characterized by episodic vertigo and tinnitus?
Ménière disease
Page 550
What syndrome presents with ptosis, miosis, and anhidrosis?
Horner syndrome (sympathetic chain lesion)
Page 557
What condition is indicated by conjugate horizontal gaze palsy?
Internuclear ophthalmoplegia (damage to MLF; may be unilateral or bilateral)
Page 560
What condition is characterized by ‘waxing and waning’ level of consciousness?
Delirium (usually 2° to other cause)
Page 577
What syndrome includes polyuria and renal tubular acidosis type II?
Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)
Page 606
What condition presents with periorbital edema and proteinuria?
Nephrotic syndrome
Page 615
What syndrome is associated with hereditary nephritis and sensorineural hearing loss?
Alport syndrome (mutation in type IV collagen)
Page 617
What condition includes Wilms tumor and macroglossia?
Beckwith-Wiedemann syndrome (WT2 mutation)
Page 626
What syndrome is characterized by streak ovaries and short stature?
Turner syndrome (45,XO)
Page 657
What condition involves ovarian fibroma and ascites?
Meigs syndrome
Page 667
What condition presents with a red, itchy rash of the nipple?
Paget disease of the breast (sign of underlying neoplasm)
Page 670
What condition involves fibrous plaques in the tunica albuginea of the penis?
Peyronie disease (connective tissue disorder)
Page 671
What condition is characterized by a pink complexion and dyspnea?
Emphysema (‘pink puffer,’ centriacinar [tobacco smoking] or panacinar [α1-antitrypsin deficiency])
Page 694
What condition presents with hypoxemia and polycythemia?
Chronic bronchitis (hypertrophy and hyperplasia of mucus-secreting glands, ‘blue bloater’)
Page 695
What condition is characterized by bilateral hilar adenopathy and uveitis?
Sarcoidosis (noncaseating granulomas)
Page 695
Colonies of Pseudomonas in lungs
Cystic fibrosis (autosomal recessive mutation in CFTR gene, fat-soluble vitamin deficiency and mucous plugs)
Page 58
Increased AFP on second trimester screening
Down syndrome, Edwards syndrome
Page 61
Decreased β-hCG, Increased PAPP-A on first trimester screening
Down syndrome
Page 61
Decreased serum homocysteine, decreased methylmalonic acid, r folate
Vitamin B12 deficiency
Page 67
Anti-histone antibodies
Drug-induced lupus
Page 113
Increased T cells, Increased PTH, Increased Ca2+, absent thymic shadow on CXR
Thymic aplasia (DiGeorge syndrome, velocardiofacial syndrome)
Page 114
Recurrent infections, eczema, thrombocytopenia
Wiskott-Aldrich syndrome
Page 115
Large granules in phagocytes, immunodeficiency
Chédiak-Higashi disease (congenital failure of phagolysosome formation)
Page 115
Optochin sensitivity
Sensitive: S pneumoniae; resistant: viridans streptococci (S mutans, S sanguis)
Page 132
Novobiocin response
Sensitive: S epidermidis; resistant: S saprophyticus
Page 132
Bacitracin response
Sensitive: S pyogenes (group A); resistant: S agalactiae (group B)
Page 132
Branching gram ⊕ rods with sulfur granules
Actinomyces israelii
Page 137
Hilar lymphadenopathy, peripheral granulomatous lesion in middle or lower lung lobes (can calcify)
Ghon complex (1° TB: Mycobacterium bacilli)
Page 138
“Thumb sign” on lateral neck x-ray
Epiglottitis (Haemophilus influenzae)
Page 140
Bacteria-covered vaginal epithelial cells, ⊕ whiff test
“Clue cells” (Gardnerella vaginalis)
Page 147
Ring-enhancing brain lesion on CT/MRI in AIDS
Toxoplasma gondii (multiple), CNS lymphoma (may be solitary)
Pages 153, 174
Dilated cardiomyopathy with apical atrophy, megacolon, megaesophagus
Chagas disease (Trypanosoma cruzi)
Page 155
Atypical lymphocytes, heterophile antibodies
Infectious mononucleosis (EBV infection)
Page 162
Narrowing of upper trachea and subglottis (Steeple sign) on x-ray
Croup (parainfluenza virus)
Page 167
Eosinophilic inclusion bodies in cytoplasm of hippocampal and cerebellar neurons
Negri bodies of rabies
Page 169
Psammoma bodies
Meningiomas, papillary thyroid carcinoma, mesothelioma, papillary serous carcinoma of the endometrium and ovary
Page 207
“Boot-shaped” heart on x-ray
Tetralogy of Fallot (due to RVH)
Page 302
Rib notching (inferior surface, on x-ray)
Coarctation of the aorta
Page 304
“Delta wave” on ECG, short PR interval, supraventricular tachycardia
Wolff-Parkinson-White syndrome (bundle of Kent bypasses AV node)
Page 311
Electrical alternans (alternating amplitude on ECG)
Cardiac tamponade
Page 317
Granuloma with giant cells after pharyngeal infection
Aschoff bodies (rheumatic fever)
Page 319
Empty-appearing nuclei with central clearing of thyroid cells
“Orphan Annie” eyes nuclei (papillary carcinoma of the thyroid)
Page 347
“Brown” tumor of bone
Hyperparathyroidism or osteitis fibrosa cystica (deposited hemosiderin from hemorrhage gives brown color)
Pages 349, 469
Hypertension, hypokalemia, metabolic alkalosis
1° hyperaldosteronism (eg, Conn syndrome)
Page 354
Mucin-filled cell with peripheral nucleus
“Signet ring” cells (diffuse gastric carcinoma)
Page 386
Anti-transglutaminase/anti-gliadin/anti-endomysial antibodies
Celiac disease (diarrhea, weight loss)
Page 388
Narrowing of bowel lumen on barium x-ray
“String sign” (Crohn disease)
Page 389
“Lead pipe” appearance of colon on abdominal imaging
Ulcerative colitis (loss of haustra)
Page 389
Thousands of polyps on colonoscopy
Familial adenomatous polyposis (autosomal dominant, mutation of APC gene)
Page 394
“Apple core” lesion on barium enema x-ray
Colorectal cancer (usually left-sided)
Page 395
Eosinophilic cytoplasmic inclusion in liver cell
Mallory body (alcoholic liver disease)
Page 398
Triglyceride accumulation in liver cell vacuoles
Fatty liver disease (alcoholic or metabolic syndrome)
Page 398
Anti-smooth muscle antibodies (ASMAs), anti-liver/kidney microsomal-1 (anti-LKM1) antibodies
Autoimmune hepatitis
Page 398
“Nutmeg” appearance of liver
Chronic passive congestion of liver due to right heart failure or Budd-Chiari syndrome
Page 399
Antimitochondrial antibodies (AMAs)
1° biliary cholangitis (female, cholestasis, portal hypertension)
Page 402
Low serum ceruloplasmin
Wilson disease (hepatolenticular degeneration; Kayser-Fleischer rings due to copper accumulation)
Page 402
Migratory thrombophlebitis (leading to migrating DVTs and vasculitis)
Trousseau syndrome (adenocarcinoma of pancreas)
Page 405
Hypersegmented neutrophils
Megaloblastic anemia (vitamin B12 deficiency: neurologic symptoms; folate deficiency: no neurologic symptoms)
Basophilic nuclear remnants in RBCs
Howell-Jolly bodies (due to splenectomy or nonfunctional spleen)
Basophilic stippling of RBCs
Sideroblastic anemias, thalassemias
Hypochromic, microcytic anemia
Iron deficiency anemia, lead poisoning, thalassemia (fetal hemoglobin sometimes present)
Pages 424, 425
“Hair on end” (“crew cut”) appearance on x-ray
β-thalassemia, sickle cell anemia (marrow expansion)
Pages 425, 428
Anti-GpIIb/IIIa antibodies
Immune thrombocytopenia
High level of d-dimers
DVT, DIC
Pages 433, 692
Giant B cells with bilobed nucleus with prominent inclusions
Reed-Sternberg cells (Hodgkin lymphoma)
Sheets of medium-sized lymphoid cells with scattered pale, tingible body–laden macrophages
Burkitt lymphoma (t[8:14] c-myc activation, associated with EBV; “starry sky” made up of malignant cells)
Lytic (“punched-out”) bone lesions on x-ray
Multiple myeloma
Monoclonal spike on serum protein electrophoresis
Multiple myeloma (usually IgG or IgA), Waldenström macroglobulinemia (IgM), Monoclonal gammopathy of undetermined significance
Stacks of RBCs
Rouleaux formation (high ESR, multiple myeloma)
Myeloperoxidase ⊕ cytoplasmic inclusions in myeloblasts, with circulating myeloblasts
Auer rods (APL)
WBCs that look “smudged”
CLL
“Tennis racket”-shaped cytoplasmic organelles (EM) in Langerhans cells
Birbeck granules (Langerhans cell histiocytosis)
“Soap bubble” in femur or tibia on x-ray
Giant cell tumor of bone (generally benign)
Raised periosteum (creating a “Codman triangle”)
Aggressive bone lesion (eg, osteosarcoma, Ewing sarcoma)
“Onion skin” periosteal reaction
Ewing sarcoma (malignant small blue cell tumor)
IgM antibody that targets IgG Fc region
Rheumatoid arthritis (systemic inflammation, joint pannus, boutonniere and swan neck deformities)
Rhomboid crystals, ⊕ birefringent
Pseudogout (calcium pyrophosphate dihydrate crystals)
Needle-shaped, ⊝ birefringent crystals
Gout (monosodium urate crystals)
Uric acid levels
Gout, Lesch-Nyhan syndrome, tumor lysis syndrome, loop and thiazide diuretics
“Bamboo spine” on x-ray
Ankylosing spondylitis (chronic inflammatory arthritis: HLA-B27)
Antinuclear antibodies (ANAs: anti-Smith and anti-dsDNA)
SLE (type III hypersensitivity)
Antineutrophil cytoplasmic antibodies (ANCAs)
Microscopic polyangiitis, eosinophilic granulomatosis with polyangiitis, and primary sclerosing cholangitis (MPO-ANCA/p-ANCA); granulomatosis with polyangiitis (PR3-ANCA/c-ANCA)
Anticentromere antibodies
Limited scleroderma (CREST syndrome)
Anti-Scl-70 (anti-DNA topoisomerase-I) and anti-RNA polymerase III antibodies
Diffuse scleroderma
Anti-desmoglein (anti-desmosome) antibodies
Pemphigus vulgaris
Antihemidesmosome antibodies
Bullous pemphigoid
Keratin pearls on a skin biopsy
Squamous cell carcinoma
AFP in amniotic fluid/maternal serum
Dating error, anencephaly, spina bifida (open neural tube defects)
Bloody or yellow tap on lumbar puncture
Xanthochromia (due to subarachnoid hemorrhage)
Eosinophilic cytoplasmic inclusion in neuron
Lewy body (Parkinson disease and Lewy body dementia)
Extracellular amyloid deposition in gray matter of brain
Senile plaques (Alzheimer disease)
Depigmentation of neurons in substantia nigra
Parkinson disease (basal ganglia disorder: rigidity, resting tremor, bradykinesia)
Protein aggregates in neurons from hyperphosphorylation of tau protein
Neurofibrillary tangles (Alzheimer disease) and Pick bodies (Pick disease)
Silver-staining spherical aggregation of tau proteins in neurons
Pick bodies (frontotemporal dementia: progressive dementia, changes in personality)
Pseudopalisading pleomorphic tumor cells on brain biopsy
Glioblastoma
Small blue cells surrounding central area of neuropil
Homer-Wright rosettes (neuroblastoma, medulloblastoma)
“Waxy” casts with very low urine flow
Chronic end-stage renal disease
WBC casts in urine
Acute pyelonephritis, transplant rejection, tubulointerstitial inflammation
RBC casts in urine
Glomerulonephritis
Anti–glomerular basement membrane antibodies
Goodpasture syndrome (glomerulonephritis and hemoptysis)
Cellular crescents in Bowman capsule
Rapidly progressive (crescentic) glomerulonephritis
“Wire loop” glomerular capillary appearance on light microscopy
Diffuse proliferative glomerulonephritis (usually seen with lupus)
Linear appearance of IgG deposition on glomerular and alveolar basement membranes
Goodpasture syndrome
“Lumpy bumpy” appearance of glomeruli on immunofluorescence
Infection-related glomerulonephritis (due to deposition of IgG, IgM, and C3)
Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis
Granulomatosis with polyangiitis (PR3-ANCA/c-ANCA) and Goodpasture syndrome (anti–basement membrane antibodies)
“Tram-track” appearance of capillary loops of glomerular basement membranes on light microscopy
Membranoproliferative glomerulonephritis
Nodular hyaline deposits in glomeruli
Kimmelstiel-Wilson nodules (diabetic glomerulonephropathy)
Podocyte fusion or “effacement” on electron microscopy
Minimal change disease (child with nephrotic syndrome)
“Spikes” on basement membrane, “domelike” subepithelial deposits
Membranous nephropathy (nephrotic syndrome)
What is the diagnosis associated with a thyroidlike appearance of the kidney?
Chronic pyelonephritis (usually due to recurrent infections)
What does the presence of granular casts in urine indicate?
Acute tubular necrosis (e.g., ischemia or toxic injury)
What conditions can cause elevated hCG levels?
Multifetal gestation, hydatidiform moles, choriocarcinomas, Down syndrome
What are dysplastic squamous cervical cells with ‘raisinoid’ nuclei and hyperchromasia indicative of?
Koilocytes (HPV: predisposes to cervical cancer)
What is characterized by sheets of uniform ‘fried egg’ cells?
Dysgerminoma
What are Schiller-Duval bodies associated with?
Yolk sac tumor
What is indicated by disarrayed granulosa cells around eosinophilic fluid collections?
Call-Exner bodies (granulosa cell tumor of the ovary)
What does a ‘chocolate cyst’ of the ovary indicate?
Endometriosis (frequently involves both ovaries)
What condition is associated with a mammary gland ‘blue domed’ cyst?
Fibrocystic change of the breast
What are Reinke crystals indicative of?
Leydig cell tumor
What are Lines of Zahn?
Thrombi made of white/red layers (arterial thrombus, layers of platelets/RBCs)
What condition is associated with hexagonal, double-pointed, needlelike crystals in bronchial secretions?
Bronchial asthma (Charcot-Leyden crystals: eosinophilic granules)
What do desquamated epithelium casts in sputum indicate?
Curschmann spirals (bronchial asthma; can result in whorled mucous plugs)
What does ‘honeycomb lung’ on x-ray or CT suggest?
Idiopathic pulmonary fibrosis
What are ferruginous bodies associated with?
Asbestosis (q chance of lung cancer)
What is indicated by a bronchogenic apical lung tumor on imaging?
Pancoast tumor (can compress cervical sympathetic chain and cause Horner syndrome)
What is the inheritance pattern of mitochondrial inheritance?
Disease occurs in all offspring of affected females (maternal inheritance pattern), heteroplasmy
What are common causes of intellectual disability?
Down syndrome, fragile X syndrome
What vitamin deficiency is most common in the USA?
Folate (pregnant women are at high risk; body stores only 3- to 4-month supply)
What is the most common lysosomal storage disease?
Gaucher disease
What diseases are associated with HLA-DR3?
DM type 1, SLE, Graves disease, Hashimoto thyroiditis, Addison disease
What diseases are associated with HLA-DR4?
Rheumatoid arthritis, type 1 DM, Addison disease
Bacteria associated with gastritis, peptic ulcer disease, and gastric malignancies
H pylori
Opportunistic respiratory infection in AIDS
Pneumocystis jirovecii
Viral encephalitis affecting temporal lobe
HSV-1
Viral infection secondary to blood transfusion
Hepatitis C
Food poisoning (exotoxin mediated)
S aureus, B cereus
Healthcare-associated pneumonia
S aureus, Pseudomonas, other gram negative rods
Bacterial meningitis (> 6 months old)
S pneumoniae
Bacterial meningitis (newborns 0–6 months old)
Group B streptococcus/E coli/Listeria
Most common cause of osteomyelitis
S aureus
Osteomyelitis in sickle cell disease
Salmonella and S aureus
Osteomyelitis with injection drug use
S aureus, Pseudomonas, Candida
Most common bacteria causing UTI
E coli, Staphylococcus saprophyticus
Bacterial STI
C trachomatis
Pelvic inflammatory disease
C trachomatis (subacute), N gonorrhoeae (acute)
Most common metastases to bone
Prostate, breast»_space; lung > kidney, colon
Most common metastases to brain
Lung > breast»_space; melanoma > colon, prostate
Most common metastases to liver
Colon > breast»_space; pancreas, lung, prostate
S3 heart sound indicates
Increased ventricular filling pressure (e.g., MR, AR, HF, thyrotoxicosis)
S4 heart sound indicates
Stiff/hypertrophic ventricle (aortic stenosis, restrictive cardiomyopathy)
Holosystolic murmur is associated with
VSD, tricuspid regurgitation, mitral regurgitation
Ejection click is associated with
Aortic stenosis
Mitral stenosis is associated with
Rheumatic heart disease
Opening snap is associated with
Mitral stenosis
Congenital heart murmur is associated with
Mitral valve prolapse
Most common early cyanotic heart disease
Tetralogy of Fallot
Late cyanotic shunt (uncorrected left to right becomes right to left)
Eisenmenger syndrome (caused by VSD, ASD, PDA)
Congenital heart disease (left-to-right shunts)
VSD > ASD > PDA
Secondary hypertension causes
Renal/renovascular diseases, atherosclerotic renal artery stenosis, 1° hyperaldosteronism, obstructive sleep apnea
Thoracic aortic aneurysm is associated with
Marfan syndrome, tertiary syphilis
Abdominal aortic aneurysm is associated with
Atherosclerosis, tobacco use
Sites of atherosclerosis
Abdominal aorta > coronary artery > popliteal artery > carotid artery
Most important risk factor for aortic dissection
Hypertension
Irregularly irregular rhythm on ECG with no discrete P waves
Atrial fibrillation
Right heart failure due to pulmonary cause
Cor pulmonale
Most common heart valve in infective endocarditis
Mitral > aortic, tricuspid (injection drug use)
Infective endocarditis presentation associated with S aureus
Acute, injection drug use, tricuspid valve
Infective endocarditis presentation associated with viridans streptococci
Subacute, dental procedure
Infective endocarditis presentation associated with S gallolyticus
Colon cancer
Infective endocarditis presentation associated with gram negative (HACEK)
Culture negative (Coxiella, Bartonella)
Most common cardiac tumor in adults
Metastasis, myxoma
Most common primary cardiac tumor in kids
Rhabdomyoma (associated with tuberous sclerosis)
Congenital adrenal hyperplasia is due to
21-hydroxylase deficiency
Most common cause of hypopituitarism
Pituitary adenoma
Most common cause of congenital hypothyroidism
Thyroid dysgenesis/dyshormonogenesis, iodine deficiency
Most common type of thyroid cancer
Papillary carcinoma
Most common cause of hypoparathyroidism
Accidental excision during thyroidectomy
Causes of primary hyperparathyroidism
Adenomas, hyperplasia, carcinoma
Cause of secondary hyperparathyroidism
Hypocalcemia of chronic kidney disease
Causes of Cushing syndrome
Exogenous glucocorticoids, adrenocortical adenoma, ACTH-secreting pituitary adenoma, paraneoplastic
Cause of primary hyperaldosteronism
Bilateral adrenal hyperplasia or adenoma (Conn syndrome)
Most common tumor of the adrenal medulla in kids
Neuroblastoma
Most common tumor of the adrenal medulla in adults
Pheochromocytoma
Refractory peptic ulcers and high gastrin levels indicate
Zollinger-Ellison syndrome (gastrinoma of duodenum or pancreas)
Most common type of esophageal cancer worldwide
Squamous cell carcinoma
Most common type of esophageal cancer in the US
Adenocarcinoma
Acute gastric ulcer associated with CNS injury
Cushing ulcer
Acute gastric ulcer associated with severe burns
Curling ulcer
Bilateral ovarian metastases from gastric carcinoma
Krukenberg tumor
Chronic atrophic gastritis (autoimmune) predisposes to
Gastric carcinoma
Alternating areas of transmural inflammation and normal colon indicate
Skip lesions (Crohn disease)
Site of diverticulosis
Sigmoid colon
Diverticulum in pharynx
Zenker diverticulum
Hepatocellular carcinoma
HBV (+/– cirrhosis) or other causes of cirrhosis (e.g., alcoholic liver disease, hemochromatosis), aflatoxins
Congenital conjugated hyperbilirubinemia (black liver)
Dubin-Johnson syndrome (inability of hepatocytes to secrete conjugated bilirubin into bile)
Hereditary harmless jaundice
Gilbert syndrome (benign congenital unconjugated hyperbilirubinemia)
Wilson disease
Hereditary ATP7B mutation (copper buildup in liver, brain, cornea [Kayser-Fleischer rings], kidneys)
Hemochromatosis
Multiple blood transfusions or hereditary HFE mutation (can result in heart failure, ‘bronze diabetes,’ and increased risk of hepatocellular carcinoma)
Pancreatitis (acute)
Gallstones, alcohol
Pancreatitis (chronic)
Alcohol (adults), cystic fibrosis (children)
Microcytic anemia
Iron deficiency, thalassemias, lead poisoning, sideroblastic anemia
Autosplenectomy (fibrosis and shrinkage), Howell-Jolly bodies
Sickle cell anemia (hemoglobin S)
Platelet disorder with GpIb deficiency
Bernard-Soulier syndrome (defect in platelet adhesion to von Willebrand factor)
Platelet disorder with GpIIb/IIIa deficiency
Glanzmann thrombasthenia (defect in platelet-to-platelet aggregation and platelet plug formation)
Inherited bleeding disorder
von Willebrand disease
Hereditary thrombophilia
Leiden (also associated with recurrent pregnancy loss)
DIC
Stroke, snake bite, sepsis, trauma, obstetric complications, acute pancreatitis, malignancy, nephrotic syndrome, transfusion
Malignancy associated with noninfectious fever
Hodgkin lymphoma
Type of Hodgkin lymphoma (most common)
Nodular sclerosis
t(14;18)
Follicular lymphoma (BCL-2 activation, anti-apoptotic oncogene)
t(8;14)
Burkitt lymphoma (c-myc fusion, transcription factor oncogene)
Type of non-Hodgkin lymphoma (most common in adults)
Diffuse large B-cell lymphoma
1° bone tumor (older adults)
Multiple myeloma
Age ranges for patient with ALL/CLL/AML/CML
ALL: child, CLL: adult > 60, AML: adult ∼ 65, CML: adult 45–85
Malignancy (kids)
Leukemia, brain tumors
t(9;22)
Philadelphia chromosome, CML (BCR-ABL oncogene, tyrosine kinase activation), more rarely associated with ALL
Vertebral compression fracture
Osteoporosis
HLA-B27
Psoriatic arthritis, ankylosing spondylitis, IBD-associated arthritis, reactive arthritis
Death in SLE
Renal disease (most common), infections, cardiovascular disease (accelerated CAD)
Giant cell arteritis
Risk of ipsilateral blindness due to occlusion of ophthalmic artery; polymyalgia rheumatica
Recurrent inflammation/thrombosis of medium-vessels in extremities
Buerger disease (strongly associated with tobacco smoking, Raynaud phenomenon)
Benign vascular tumor of infancy
Strawberry hemangioma (grows rapidly and regresses spontaneously by 5–8 years of age)
Herald patch (Christmas tree distribution)
Pityriasis rosea
Actinic keratosis
Precursor to squamous cell carcinoma
Cerebellar tonsillar herniation
Chiari I malformation (associated with spinal cord cavitations [e.g., syringomyelia])
Bilateral mamillary body lesions with thiamine deficiency
Wernicke-Korsakoff syndrome (with bilateral lesions)
Epidural hematoma
Rupture of middle meningeal artery (trauma; lentiform shaped)
Subdural hematoma
Rupture of bridging veins (crescent shaped)
Dementia
Alzheimer disease, vascular dementia (multiple infarcts)
Demyelinating disease in young women
Multiple sclerosis
Brain tumor (adults)
Metastasis, glioblastoma (malignant), meningioma, hemangioblastoma
Galactorrhea, amenorrhea
Prolactinoma
Brain tumor (children)
Infratentorial: medulloblastoma (cerebellum) or supratentorial: craniopharyngioma
Combined (UMN and LMN) motor neuron degeneration
Amyotrophic lateral sclerosis
Degeneration of dorsal column fibers
Tabes dorsalis (3° syphilis), subacute combined degeneration (dorsal columns, lateral corticospinal, spinocerebellar tracts affected)
Nephrotic syndrome (children)
Minimal change disease
Kidney stones (radiolucent)
Uric acid
Kidney stones (radiopaque)
Calcium (most common), struvite (ammonium), cystine (faintly radiopaque)
Renal malignancy (in males)
Renal cell carcinoma: associated with tobacco smoking and VHL (clear cell subtype); paraneoplastic syndromes (EPO, renin, PTHrP, ACTH)
1° amenorrhea
Turner syndrome (45,XO or 45,XO/46,XX mosaic)
Hypogonadotropic hypogonadism with anosmia
Kallmann syndrome (neuron migration failure)
Clear cell adenocarcinoma of the vagina
DES exposure in utero
Ovarian tumor (benign, bilateral)
Serous cystadenoma
HLA-B27 associations
Psoriatic arthritis, ankylosing spondylitis, IBD-associated arthritis, reactive arthritis
Most common causes of death in SLE
Renal disease, infections, cardiovascular disease (accelerated CAD)
Giant cell arteritis complications
Risk of ipsilateral blindness due to occlusion of ophthalmic artery; polymyalgia rheumatica
Buerger disease associations
Recurrent inflammation/thrombosis of medium-vessels in extremities; strongly associated with tobacco smoking, Raynaud phenomenon
Benign vascular tumor of infancy
Strawberry hemangioma
Grows rapidly and regresses spontaneously by 5–8 years of age
Herald patch distribution
Christmas tree distribution in Pityriasis rosea
Actinic keratosis significance
Precursor to squamous cell carcinoma
Chiari I malformation associations
Cerebellar tonsillar herniation; associated with spinal cord cavitations (e.g., syringomyelia)
Wernicke-Korsakoff syndrome lesions
Bilateral mamillary body lesions with thiamine deficiency
Epidural hematoma cause
Rupture of middle meningeal artery (trauma; lentiform shaped)
Subdural hematoma cause
Rupture of bridging veins (crescent shaped)
Types of dementia
Alzheimer disease, vascular dementia (multiple infarcts)
Common demyelinating disease in young women
Multiple sclerosis
Common brain tumors in adults
Metastasis, glioblastoma (malignant), meningioma, hemangioblastoma
Prolactinoma symptoms
Galactorrhea, amenorrhea
Common brain tumors in children
Infratentorial: medulloblastoma (cerebellum) or supratentorial: craniopharyngioma
Combined motor neuron degeneration
Amyotrophic lateral sclerosis
Degeneration of dorsal column fibers causes
Tabes dorsalis (3° syphilis), subacute combined degeneration (dorsal columns, lateral corticospinal, spinocerebellar tracts affected)
Nephrotic syndrome in children
Minimal change disease
Radiolucent kidney stones
Uric acid
Radiopaque kidney stones
Calcium (most common), struvite (ammonium), cystine (faintly radiopaque)
Renal malignancy in males
Renal cell carcinoma: associated with tobacco smoking and VHL (clear cell subtype); paraneoplastic syndromes (EPO, renin, PTHrP, ACTH)
Primary amenorrhea cause
Turner syndrome (45,XO or 45,XO/46,XX mosaic)
Hypogonadotropic hypogonadism with anosmia
Kallmann syndrome (neuron migration failure)
Clear cell adenocarcinoma of the vagina cause
DES exposure in utero
Benign ovarian tumor
Serous cystadenoma
Malignant ovarian tumor
Serous carcinoma
Benign tumor of myometrium
Leiomyoma (estrogen dependent, not precancerous)
Most common gynecologic malignancy
Endometrial carcinoma (most common in resource-rich countries); cervical cancer (most common worldwide)
Common breast mass in premenopausal females
Fibrocystic change; carcinoma (in postmenopausal females)
Benign breast tumor in young women
Fibroadenoma
Most common breast cancer type
Invasive ductal carcinoma
Common testicular tumor
Seminoma (malignant, radiosensitive), q PLAP
Bladder outlet obstruction in men
BPH
Components of Virchow triad
Hypercoagulability, endothelial damage, blood stasis (q risk of thrombosis)
Causes of pulmonary hypertension
Idiopathic, left heart disease, lung diseases/hypoxia, chronic thromboembolism, multifactorial
SIADH association
Small cell carcinoma of the lung
