TRUE RAPID REVIEW

Question 1

What is the mechanism of Lesch-Nyhan syndrome?

Answer 1

Absent HGPRT leading to de novo purine synthesis and uric acid production

This condition is characterized by self-mutilating behavior and neurological deficits.

Question 2

What mutation causes β-thalassemia?

Answer 2

Mutation at splice site or promoter sequences leading to retained intron in mRNA

This results in reduced or absent production of hemoglobin.

Question 3

What is the primary defect in Lynch syndrome?

Answer 3

Failure of mismatch repair during the S phase causing microsatellite instability

This syndrome is associated with an increased risk of colorectal and endometrial cancers.

Question 4

What defect characterizes I-cell disease?

Answer 4

N-acetylglucosaminyl-1-phosphotransferase defect leading to failure of mannose residues phosphorylation

This results in cellular debris accumulation in lysosomes.

Question 5

What is the cause of Osteogenesis imperfecta?

Answer 5

Type 1 collagen defect due to inability to form triple helices

This condition is commonly known as ‘brittle bone disease’.

Question 6

What is the genetic basis of Menkes disease?

Answer 6

Defective ATP7A protein leading to impaired copper absorption and transport

This affects lysyl oxidase activity and collagen cross-linking.

Question 7

What mutation is associated with Marfan syndrome?

Answer 7

FBN1 mutation on chromosome 15 leading to defective fibrillin

Fibrillin normally forms a sheath around elastin, and this defect can affect connective tissue.

Question 8

What is the genetic mechanism behind Prader-Willi syndrome?

Answer 8

Uniparental disomy or imprinting leading to silencing of maternal gene

The disease is expressed when the paternal allele is deleted or mutated.

Question 9

What causes Angelman syndrome?

Answer 9

Silenced gene leading to mutation or deletion of UBE3A on maternal chromosome 15

This results in severe developmental delays and neurological problems.

Question 10

What is the genetic mutation in cystic fibrosis?

Answer 10

Autosomal recessive ΔF508 deletion in CFTR gene on chromosome 7

This mutation impairs the ATP-gated Cl− channel affecting various organs.

Question 11

What is the result of dystrophin gene mutations in Duchenne muscular dystrophy?

Answer 11

Frameshift mutations leading to loss of anchoring protein to ECM (dystrophin) causing myonecrosis

This condition leads to progressive muscle weakness.

Question 12

What genetic change is seen in myotonic dystrophy?

Answer 12

CTG trinucleotide repeat expansion in DMPK gene causing abnormal expression of myotonin protein kinase

This results in myotonia, characterized by muscle stiffness.

Question 13

What is the cause of Fragile X syndrome?

Answer 13

Trinucleotide repeat of CGG in FMR1 gene leading to hypermethylation

This condition is the most common inherited form of intellectual disability.

Question 14

What are Bitot spots associated with?

Answer 14

Vitamin A deficiency leading to differentiation of epithelial cells into specialized tissue

This results in squamous metaplasia.

Question 15

What causes Wernicke encephalopathy in alcoholic patients given glucose?

Answer 15

Thiamine deficiency leading to impaired glucose breakdown and ATP depletion

The condition worsens with glucose infusion due to increased demand for thiamine.

Question 16

What leads to Pellagra in malignant carcinoid syndrome?

Answer 16

Tryptophan is diverted towards serotonin synthesis leading to B3 deficiency

B3 (niacin) is derived from tryptophan, and deficiency causes dermatitis, diarrhea, and dementia.

Question 17

What is the cause of edema in Kwashiorkor?

Answer 17

Protein malnutrition leading to reduced oncotic pressure

This condition is associated with apolipoprotein synthesis and liver fatty change.

Question 18

What metabolic change occurs in lactic acidosis during fasting hypoglycemia in alcoholism?

Answer 18

Increased NADH/NAD+ ratio due to ethanol metabolism

This affects gluconeogenesis and lactate clearance.

Question 19

What is the mechanism behind aspirin-induced hyperthermia?

Answer 19

Permeability of mitochondrial membrane affecting proton gradient and O2 consumption leading to uncoupling

This can result in increased metabolic rate and heat production.

Question 20

What deficiency causes hereditary fructose intolerance?

Answer 20

Aldolase B deficiency leading to fructose-1-phosphate accumulation

This inhibits glycogenolysis and gluconeogenesis due to phosphate depletion.

Question 21

What is the genetic basis of classic galactosemia?

Answer 21

Galactose-1-phosphate uridyltransferase deficiency leading to accumulation of toxic substances

This includes galactitol, which can cause cataracts.

Question 23

What causes cataracts, retinopathy, and peripheral neuropathy in diabetes mellitus?

Answer 23

Lens, retina, Schwann cells lack sorbitol dehydrogenase leading to intracellular sorbitol accumulation and osmotic damage.

Question 24

What is the cause of recurrent Neisseria bacteremia?

Answer 24

Terminal complement deficiencies (C5–C9) result in failure of MAC formation.

Question 25

What is hereditary angioedema?

Answer 25

C1 esterase inhibitor deficiency leads to unregulated activation of kallikrein and increased bradykinin.

Question 26

What is paroxysmal nocturnal hemoglobinuria?

Answer 26

PIGA gene mutation causes a deficiency in GPI anchors for complement inhibitors (DAF/CD55, MIRL/CD59), resulting in complement-mediated intravascular hemolysis.

Question 27

What characterizes type I hypersensitivity?

Answer 27

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.

Question 28

What is type II hypersensitivity?

Answer 28

Antibodies bind to cell-surface antigens causing cellular destruction, inflammation, and cellular dysfunction.

Question 29

What is type III hypersensitivity?

Answer 29

Antigen-antibody complexes activate complement and attract neutrophils.

Question 30

What is type IV hypersensitivity?

Answer 30

T cell-mediated response (no antibodies involved). CD8+ directly kills target cells, while CD4+ releases cytokines.

Question 31

What is an acute hemolytic transfusion reaction?

Answer 31

A type II hypersensitivity reaction against donor RBCs, usually involving ABO antigens.

Question 32

What causes X-linked (Bruton) agammaglobulinemia?

Answer 32

Defect in the BTK gene (tyrosine kinase) leads to no B-cell maturation and absent B cells in peripheral blood.

Question 33

What is DiGeorge syndrome?

Answer 33

A 22q11 microdeletion results in failure to develop the 3rd and 4th branchial (pharyngeal) pouches.

Question 34

What causes hyper-IgM syndrome?

Answer 34

Defective CD40L on Th cells leads to a class switching defect.

Question 35

What is leukocyte adhesion deficiency (type 1)?

Answer 35

LFA-1 integrin (CD18) defect results in impaired phagocyte migration and chemotaxis.

Question 36

What is Chédiak-Higashi syndrome?

Answer 36

LYST mutation causes microtubule dysfunction and a phagosome-lysosome fusion defect.

Question 37

What is chronic granulomatous disease?

Answer 37

NADPH oxidase defect leads to reduced ROS and respiratory burst in neutrophils.

Question 38

What is the cause of Candida infection in immunodeficiency?

Answer 38

Reduced granulocytes (systemic) and reduced T cells (local).

Question 39

What is graft-versus-host disease?

Answer 39

A type IV hypersensitivity reaction due to HLA mismatch, where donor T cells attack host cells.

Question 40

What infections are recurrent in chronic granulomatous disease?

Answer 40

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.

Question 41

What is hemolytic uremic syndrome?

Answer 41

Shiga/Shiga-like toxins inactivate the 60S ribosome, leading to cytokine release.

Question 42

What does tetanospasmin do?

Answer 42

It prevents the release of inhibitory neurotransmitters (GABA and glycine) from Renshaw cells.

Question 43

What does botulism toxin do?

Answer 43

The toxin (protease) cleaves SNARE proteins, resulting in reduced neurotransmitter (ACh) release at the NMJ.

Question 44

What is gas gangrene?

Answer 44

Alpha toxin (phospholipase/lecithinase) degrades phospholipids, leading to myonecrosis.

Question 45

What causes toxic shock syndrome and scarlet fever?

Answer 45

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).

Question 46

What activates macrophages in relation to M tuberculosis?

Answer 46

Cord factor activates macrophages and promotes granuloma formation ## Footnote Cord factor also induces the release of TNF-α; sulfatides inhibit phagolysosomal fusion.

Question 47

What is the effect of Diphtheria Exotoxin?

Answer 47

Inhibits protein synthesis via ADP-ribosylation of EF-2

Question 48

What causes prosthetic device infection?

Answer 48

S epidermidis and biofilm production

Question 49

What is the primary cause of pseudomembranous colitis?

Answer 49

C difficile and its toxins A and B

Question 50

What is the mechanism by which C difficile damages enterocytes?

Answer 50

Toxins A and B cause damage leading to watery diarrhea

Question 51

What is the immune response in tuberculoid leprosy?

Answer 51

Th1 immune response leading to mild symptoms

Question 52

What is the reason for the lack of an effective vaccine for N gonorrhoeae?

Answer 52

Antigenic variation of pilus proteins

Question 53

Which bacteria are responsible for cystitis and pyelonephritis?

Answer 53

E coli, specifically through fimbriae (P pili)

Question 54

What is the role of the K capsule in E coli?

Answer 54

Causes pneumonia and neonatal meningitis

Question 55

What is the reason for Chlamydiae's resistance to β-lactam antibiotics?

Answer 55

Lack of classic peptidoglycan and reduced muramic acid

Question 56

How does influenza pandemics occur?

Answer 56

RNA segment reassortment leading to antigenic shift

Question 57

What causes influenza epidemics?

Answer 57

Mutations in hemagglutinin and neuraminidase leading to antigenic drift

Question 58

How does rabies invade the CNS?

Answer 58

Binds to ACh receptors and uses retrograde transport (dynein)

Question 59

What is the mechanism by which HIV infects cells?

Answer 59

Virus binds CD4 along with CCR5 on macrophages or CXCR4 on T cells

Question 60

What is the role of macrophages in granulomas?

Answer 60

Present antigens to CD4+ and secrete IL-12 for Th1 differentiation

Question 61

What allows cancer cells to maintain limitless replicative potential?

Answer 61

Reactivation of telomerase maintains and lengthens telomeres

Question 62

What is the process of tissue invasion by cancer cells?

Answer 62

Involves E-cadherin function, intercellular junctions, ECM degradation, and locomotion

Question 63

What is persistent truncus arteriosus?

Answer 63

Failure of aorticopulmonary septum formation

Question 64

What causes D-transposition of great arteries?

Answer 64

Failure of the aorticopulmonary septum to spiral

Question 65

What triggers tet spells in tetralogy of Fallot?

Answer 65

Crying, fever, exercise leading to right-to-left shunt and cyanosis

Question 66

What defines Eisenmenger syndrome?

Answer 66

Uncorrected left-to-right shunt leading to pulmonary hypertension and right-to-left shunting

Question 67

What are the key steps in the development of atherosclerosis?

Answer 67

Endothelial cell dysfunction, macrophage and LDL accumulation, foam cell formation, and plaque development

Question 68

What is a thoracic aortic aneurysm?

Answer 68

Cystic medial degeneration.

Question 69

What causes myocardial infarction?

Answer 69

Rupture of coronary artery atherosclerotic plaque leading to acute thrombosis.

Question 70

What characterizes non-ST-segment elevation myocardial infarction?

Answer 70

Subendocardial infarcts due to subendocardium being vulnerable to ischemia.

Question 71

What characterizes ST-segment elevation myocardial infarction?

Answer 71

Transmural infarcts.

Question 72

What is a common cause of death within 0-24 hours post myocardial infarction?

Answer 72

Ventricular arrhythmia.

Question 73

What are the causes of death or shock within 3-14 days post myocardial infarction?

Answer 73

Macrophage-mediated ruptures: papillary muscle (2-7 days), interventricular septum (3-5 days), free wall (5-14 days).

Question 74

What is Wolff-Parkinson-White syndrome?

Answer 74

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.

Question 75

What causes hypertrophic obstructive cardiomyopathy?

Answer 75

Sarcomeric proteins gene mutations (myosin binding protein C and β-myosin heavy chain) leading to concentric hypertrophy.

Question 76

What symptoms are associated with syncope and dyspnea in hypertrophic obstructive cardiomyopathy?

Answer 76

Asymmetric septal hypertrophy and systolic anterior motion of the mitral valve leading to outflow obstruction.

Question 77

What is hypovolemic shock?

Answer 77

Reduced preload leading to reduced cardiac output.

Question 78

What is cardiogenic shock?

Answer 78

Reduced cardiac output due to left heart dysfunction.

Question 79

What is distributive shock?

Answer 79

Reduced systemic vascular resistance (afterload).

Question 80

What is rheumatic fever?

Answer 80

Antibodies against M protein cross-react with self antigens; it is a type II hypersensitivity reaction.

Question 81

What is the most common form of congenital adrenal hyperplasia?

Answer 81

21-hydroxylase deficiency leading to reduced mineralocorticoids, reduced cortisol, and increased sex hormones and 17-hydroxyprogesterone.

Question 82

What are the symptoms of heat intolerance and weight loss in hyperthyroidism?

Answer 82

Increased Na+-K+ ATPase leading to increased basal metabolic rate and calorigenesis.

Question 83

What is myxedema in hypothyroidism?

Answer 83

Accumulation of carbohydrates in the interstitial space.

Question 84

What is Graves ophthalmopathy?

Answer 84

Lymphocytic infiltration and fibroblast secretion of glycosaminoglycans leading to osmotic muscle swelling and inflammation.

Question 85

What causes primary hyperparathyroidism?

Answer 85

Parathyroid adenoma or hyperplasia leading to increased PTH.

Question 86

What is secondary hyperparathyroidism?

Answer 86

Reduced calcium and/or increased phosphate leading to parathyroid hyperplasia and increased PTH and alkaline phosphatase.

Question 87

What causes euvolemic hyponatremia in SIADH?

Answer 87

Increased ADH leading to water retention and reduced aldosterone, ANP, BNP, and increased urinary sodium secretion.

Question 88

What causes small/large vessel disease in diabetes mellitus?

Answer 88

Nonenzymatic glycation of proteins.

Question 89

What is diabetic ketoacidosis?

Answer 89

Reduced insulin or increased insulin requirement leading to increased fat breakdown, free fatty acids, and ketogenesis.

Question 90

What characterizes hyperosmolar hyperglycemic state?

Answer 90

Hyperglycemia leading to increased serum osmolality and excessive osmotic diuresis.

Question 91

What is Zollinger-Ellison syndrome?

Answer 91

A gastrin-secreting tumor (gastrinoma) of the pancreas or duodenum causing recurrent ulcers in the duodenum/jejunum and malabsorption.

Question 92

What is duodenal atresia?

Answer 92

Failure to recanalize.

Question 93

What causes jejunal/ileal atresia?

Answer 93

Disruption of the superior mesenteric artery leading to ischemic necrosis of the fetal intestine.

Question 94

How do you remember the different types of hypersensitivities?

Answer 94

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)

Question 95

What is Superior mesenteric artery syndrome?

Answer 95

Compression of transverse (third) portion of duodenum by SMA and aorta.

Question 96

What causes Achalasia?

Answer 96

Loss of postganglionic inhibitory neurons (contain NO and VIP) in myenteric plexus leads to failure of LES relaxation.

Question 97

What is Barrett esophagus?

Answer 97

Replacement (metaplasia) of nonkeratinized stratified squamous epithelium with intestinal epithelium (nonciliated columnar with goblet cells).

Question 98

What is Acute gastritis?

Answer 98

Occurs 2° to NSAIDs due to reduced PGE2 leading to loss of gastric protection.

Question 99

What is Celiac disease?

Answer 99

Autoimmune-mediated intolerance of gliadin (found in wheat) leading to malabsorption (distal duodenum, proximal jejunum) and steatorrhea.

Question 100

What causes fistula formation in Crohn's disease?

Answer 100

Transmural inflammation.

Question 101

What is Meckel diverticulum?

Answer 101

Persistence of the vitelline (omphalomesenteric) duct.

Question 102

What is Hirschsprung disease?

Answer 102

Loss of function mutation in RET leads to failure of neural crest migration and lack of ganglion cells/enteric nervous plexuses in distal colon.

Question 103

What is the adenoma-carcinoma sequence in colorectal cancer?

Answer 103

Loss of APC (reducing intercellular adhesion, increasing proliferation) leads to KRAS mutation (unregulated intracellular signaling) and loss of tumor suppressor genes (TP53, DCC).

Question 104

What causes fibrosis in cirrhosis?

Answer 104

Stellate cells.

Question 105

What is Reye syndrome?

Answer 105

Aspirin inhibits β-oxidation by reversible inhibition of mitochondrial enzymes.

Question 106

What is hepatic encephalopathy?

Answer 106

Occurs due to cirrhosis, portosystemic shunts, and reduced NH3 metabolism.

Question 107

What is α1-antitrypsin deficiency?

Answer 107

Misfolded proteins aggregate in hepatocellular ER leading to cirrhosis. In lungs, reduced α1-antitrypsin leads to uninhibited elastase in alveoli causing panacinar emphysema.

Question 108

What is Wilson disease?

Answer 108

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.

Question 109

What is hemochromatosis?

Answer 109

HFE mutation on chromosome 6 reduces hepcidin production, increasing intestinal absorption and leading to iron overload (increased ferritin, iron, reduced TIBC, increased transferrin saturation).

Question 110

What is gallstone ileus?

Answer 110

Fistula between gallbladder and GI tract allows stone to enter GI lumen, obstructing ileocecal valve (narrowest point).

Question 111

What is acute cholangitis?

Answer 111

Biliary tree obstruction leads to stasis and bacterial overgrowth.

Question 112

What is acute pancreatitis?

Answer 112

Autodigestion of pancreas by pancreatic enzymes.

Question 113

What is Rh hemolytic disease of the newborn?

Answer 113

Rh negative mother forms antibodies (maternal anti-D IgG) against RBCs of Rh positive fetus.

Question 114

What causes anemia in lead poisoning?

Answer 114

Lead inhibits ferrochelatase and ALA dehydratase, reducing heme synthesis and increasing RBC protoporphyrin.

Question 115

What is anemia of chronic disease?

Answer 115

Inflammation increases hepcidin, reducing release of iron from macrophages and iron absorption from gut.

Question 116

What is G6PD deficiency?

Answer 116

Defect in G6PD reduces NADPH and glutathione, increasing RBC susceptibility to oxidant stress.

Question 117

What causes sickle cell anemia?

Answer 117

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.

Question 118

What is Bernard-Soulier syndrome?

Answer 118

Reduced GpIb leads to impaired platelet-to-vWF adhesion.

Question 119

What is Glanzmann thrombasthenia?

Answer 119

Defective platelet-to-platelet aggregation and platelet plug formation.

Question 120

What causes Thrombotic thrombocytopenic purpura?

Answer 120

Deficiency of ADAMTS13 leads to degradation of vWF multimers, resulting in impaired platelet adhesion and aggregation.

Question 121

What is von Willebrand disease?

Answer 121

A disorder caused by a deficiency in vWF, affecting platelet-to-vWF adhesion and possibly leading to prolonged PTT.

Question 122

What is Factor V Leiden?

Answer 122

A mutant form of factor V (Arg506Gln) that is resistant to degradation by protein C.

Question 123

What is a common cause of axillary nerve injury?

Answer 123

Fractured surgical neck or anterior dislocation of the humerus, leading to a fattened deltoid.

Question 124

What causes radial nerve injury (Saturday night palsy)?

Answer 124

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.

Question 125

What are the effects of median nerve injury?

Answer 125

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.

Question 126

What happens with ulnar nerve injury?

Answer 126

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.

Question 127

What is Erb palsy?

Answer 127

A condition caused by traction or tear of C5-C6 roots during delivery or trauma in adults, resulting in characteristic arm positioning.

Question 128

What is Klumpke palsy?

Answer 128

A condition caused by traction or tear of C8-T1 roots during delivery or trauma, often associated with trying to grab a branch.

Question 129

What causes winged scapula?

Answer 129

Injury to the long thoracic nerve (C5-C7), often during axillary node dissection in mastectomy.

Question 130

What is a common cause of common peroneal nerve injury?

Answer 130

Trauma to the lateral aspect of the leg or fracture of the fibular neck, leading to foot drop with steppage gait.

Question 131

What is superior gluteal nerve injury?

Answer 131

Iatrogenic injury during IM injection at the gluteal region, causing Trendelenburg sign.

Question 132

What causes pudendal nerve injury?

Answer 132

Injury during horseback riding or prolonged cycling; can be blocked during delivery at the ischial spine.

Question 133

What is radial head subluxation?

Answer 133

Also known as nursemaid’s elbow, it occurs due to a sudden pull on the arm in children.

Question 134

What is slipped capital femoral epiphysis?

Answer 134

A condition in obese young adolescents characterized by hip/knee pain and displacement of the epiphysis relative to the femoral neck.

Question 135

What causes achondroplasia?

Answer 135

Constitutive activation of FGFR3 leads to impaired chondrocyte proliferation and failure of endochondral ossification, resulting in short limbs.

Question 136

What is osteoporosis?

Answer 136

A condition characterized by increased osteoclast activity leading to bone resorption, often due to low estrogen levels and aging.

Question 137

What is osteopetrosis?

Answer 137

Caused by carbonic anhydrase II mutations, leading to impaired osteoclast function, dense bones, and increased fracture risk.

Question 138

What is osteitis deformans?

Answer 138

A condition characterized by increased osteoclast activity followed by osteoblast activity, resulting in poor quality bone that is prone to fractures.

Question 139

What is osteoarthritis?

Answer 139

Mechanical degeneration of articular cartilage causing inflammation with inadequate repair and osteophyte formation.

Question 140

What is rheumatoid arthritis?

Answer 140

Autoimmune inflammation due to HLA-DR4 causing pannus formation. Type III Hypersensitivity reaction.

Question 141

What is Sjogren syndrome?

Answer 141

Autoimmune Type IV hypersensitivity reaction leading to lymphocyte mediated damage of exocrine glands.

Question 142

What is systemic lupus erythematosus?

Answer 142

Predominantly a Type III hypersensitivity reaction with decreased clearance of immune complexes. Hematologic manifestations are a type II hypersensitivity reaction.

Question 143

What causes blindness in giant cell (temporal) arteritis?

Answer 143

Ophthalmic artery occlusion.

Question 144

What is myasthenia gravis?

Answer 144

Autoantibodies to postsynaptic nicotinic (ACh) receptors.

Question 145

What is Lambert-Eaton myasthenic syndrome?

Answer 145

Autoantibodies to presynaptic calcium channels impair ACh release.

Question 146

What is albinism?

Answer 146

Normal melanocyte number, reduced melanin production.

Question 147

What is vitiligo?

Answer 147

Autoimmune destruction of melanocytes.

Question 148

What is atopic dermatitis?

Answer 148

Epidermal barrier dysfunction, genetic factors, immune dysregulation, altered skin microbiome, environmental triggers of inflammation.

Question 149

What is allergic contact dermatitis?

Answer 149

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.

Question 150

What is psoriasis?

Answer 150

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.

Question 151

What is pemphigus vulgaris?

Answer 151

Type II HSR. IgG autoantibodies form against desmoglein 1 and 3 in desmosomes, leading to separation of keratinocytes in stratum spinosum.

Question 152

What is bullous pemphigoid?

Answer 152

Type II HSR. IgG autoantibodies against hemidesmosomes cause separation of epidermis from dermis.

Question 153

What causes spina bifida occulta, meningocele, myelomeningocele, and myeloschisis?

Answer 153

Failure of caudal neuropore to fuse by 4th week of development.

Question 154

What is anencephaly?

Answer 154

Failure of rostral neuropore to close, resulting in no forebrain and open calvarium.

Question 155

What is holoprosencephaly?

Answer 155

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.

Question 156

What is lissencephaly?

Answer 156

Failure of neuronal migration resulting in a smooth brain surface lacking sulci and gyri.

Question 157

What is Chiari I malformation?

Answer 157

Downward displacement of cerebellar tonsils inferior to foramen magnum.

Question 158

What is Chiari II malformation?

Answer 158

Herniation of cerebellum (vermis and tonsils) and medulla through foramen magnum causing noncommunicating hydrocephalus.

Question 159

What is Dandy-Walker malformation?

Answer 159

Agenesis of cerebellar vermis leading to cystic enlargement of the 4th ventricle that fills the enlarged posterior fossa; associated with noncommunicating hydrocephalus.

Question 160

What is Syringomyelia?

Answer 160

Fluid-filled, gliosis-lined cavity within spinal cord, associated with Chiari I malformation (low-lying cerebellar tonsils), less commonly with infections, tumors, trauma.

Question 161

What is Gerstmann syndrome?

Answer 161

Lesion in the dominant parietal cortex causing agraphia, acalculia, finger agnosia, left-right disorientation.

Question 162

What is Hemispatial neglect syndrome?

Answer 162

Lesion in the nondominant parietal cortex.

Question 163

What is Klüver-Bucy syndrome?

Answer 163

Bilateral lesions in the amygdala; seen in HSV-1 encephalitis causing disinhibition, including hyperphagia, hypersexuality, hyperorality.

Question 164

What is Parinaud syndrome?

Answer 164

Inability to move eyes up and down due to lesion in the dorsal midbrain; often due to pineal gland tumors.

Question 165

What is Cerebral edema?

Answer 165

Fluid accumulation in the brain parenchyma; may be cytotoxic or vasogenic.

Question 166

What is Aphasia?

Answer 166

Stroke in dominant (usually left) hemisphere, affecting either the superior temporal gyrus (Wernicke; receptive aphasia) or inferior frontal gyrus (Broca; expressive aphasia).

Question 167

What is Locked-in syndrome?

Answer 167

Loss of horizontal, but not vertical, eye movements due to stroke of the basilar artery.

Question 168

What is Lateral pontine syndrome?

Answer 168

Stroke of the anterior inferior cerebellar artery.

Question 169

What is Lateral medullary (Wallenberg) syndrome?

Answer 169

Stroke of the posterior inferior cerebellar artery.

Question 170

What is Medial medullary syndrome?

Answer 170

Stroke of the anterior spinal artery.

Question 171

What is Neonatal intraventricular hemorrhage?

Answer 171

Reduced glial fiber support and impaired autoregulation of BP in premature infants causing bleeding into the ventricles, originating in the germinal matrix.

Question 172

What is Epidural hematoma?

Answer 172

Rupture of middle meningeal artery, often secondary to skull fracture involving the pterion.

Question 173

What is Subdural hematoma?

Answer 173

Rupture of bridging veins; can be acute (traumatic) or chronic (mild trauma, cerebral atrophy, age, chronic alcohol overuse, shaken baby syndrome).

Question 174

What is Subarachnoid hemorrhage?

Answer 174

Caused by trauma, rupture of aneurysm, or arteriovenous malformation leading to bleeding.

Question 175

What is Intraparenchymal hemorrhage?

Answer 175

Often due to systemic hypertension, amyloid angiopathy, arteriovenous malformation, or vasculitis, leading to bleeding.

Question 176

What is Phantom limb pain?

Answer 176

Most commonly follows amputation; sensation of pain in a limb that is no longer present due to reorganization of primary somatosensory cortex.

Question 177

What is Diffuse axonal injury?

Answer 177

Traumatic shearing of white matter tracts during rapid acceleration and/or deceleration of the brain, often causing neurologic injury.

Question 178

What is conduction aphasia?

Answer 178

Damage to the arcuate fasciculus.

Question 179

What is global aphasia?

Answer 179

Damage to both Broca (inferior frontal gyrus of frontal lobe) and Wernicke (superior temporal gyrus of temporal lobe) areas.

Question 180

What is heat stroke?

Answer 180

Inability of body to dissipate heat (e.g., exertion) leading to CNS dysfunction (e.g., confusion), rhabdomyolysis, acute kidney injury, ARDS, DIC.

Question 181

What causes migraines?

Answer 181

Irritation of CN V, meninges, or blood vessels (release of vasoactive neuropeptides, e.g., substance P, calcitonin gene-related peptide).

Question 182

What characterizes Parkinson disease?

Answer 182

Loss of dopaminergic neurons of substantia nigra pars compacta.

Question 183

What is Huntington disease?

Answer 183

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.

Question 184

What are the features of Alzheimer disease?

Answer 184

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.

Question 185

What is frontotemporal dementia?

Answer 185

Frontotemporal lobe degeneration affecting executive function and behavioral inhibition.

Question 186

What is vascular dementia?

Answer 186

Multiple arterial infarcts and/or chronic ischemia.

Question 187

What is HIV-associated dementia?

Answer 187

Secondary to diffuse gray matter and subcortical atrophy.

Question 188

What is idiopathic intracranial hypertension?

Answer 188

Increased ICP, associated with dural venous sinus stenosis; impaired optic nerve axoplasmic flow leading to papilledema.

Question 189

What is communicating hydrocephalus?

Answer 189

Reduced CSF absorption by arachnoid granulations (e.g., arachnoid scarring post-meningitis) leading to increased ICP, papilledema, and herniation.

Question 190

What is normal pressure hydrocephalus?

Answer 190

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.

Question 191

What is noncommunicating hydrocephalus?

Answer 191

Structural blockage of CSF circulation within the ventricular system (e.g., stenosis of aqueduct of Sylvius, colloid cyst blocking foramen of Monro, tumor).

Question 192

What is ex vacuo ventriculomegaly?

Answer 192

Decreased brain tissue and neuronal atrophy leading to the appearance of increased CSF on imaging.

Question 193

What characterizes multiple sclerosis?

Answer 193

Autoimmune inflammation and demyelination of CNS (brain and spinal cord) leading to axonal damage.

Question 194

What is osmotic demyelination syndrome?

Answer 194

Rapid osmotic changes, most commonly iatrogenic correction of hyponatremia, leading to massive axonal demyelination in pontine white matter.

Question 195

What is acute inflammatory demyelinating polyneuropathy?

Answer 195

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.

Question 196

What is Charcot-Marie-Tooth disease?

Answer 196

Defective production of proteins involved in the structure and function of peripheral nerves or the myelin sheath.

Question 197

What is progressive multifocal leukoencephalopathy?

Answer 197

Destruction of oligodendrocytes secondary to reactivation of latent JC virus infection leading to demyelination of CNS.

Question 198

What is Sturge-Weber syndrome?

Answer 198

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.

Question 199

What is a pituitary adenoma?

Answer 199

Hyperplasia of only one type of endocrine cells found in the pituitary, most commonly from lactotrophs, producing prolactin.

Question 200

What is spinal muscular atrophy?

Answer 200

Congenital degeneration of anterior horns.

Question 201

What causes amyotrophic lateral sclerosis?

Answer 201

Can be caused by a defect in superoxide dismutase 1.

Question 202

What is tabes dorsalis?

Answer 202

Degeneration/demyelination of dorsal columns and roots, leading to progressive sensory ataxia (impaired proprioception and poor coordination).

Question 203

How does poliomyelitis spread?

Answer 203

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).

Question 204

What is Friedreich ataxia?

Answer 204

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.

Question 205

What causes noise-induced hearing loss?

Answer 205

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.

Question 206

What is presbycusis?

Answer 206

Destruction of hair cells at the cochlear base, leading to aging-related progressive bilateral/symmetric sensorineural hearing loss, often of higher frequencies.

Question 207

What is cholesteatoma?

Answer 207

Abnormal growth of keratinized squamous epithelium in the middle ear.

Question 208

What characterizes Ménière disease?

Answer 208

Increased endolymph in the inner ear, causing vertigo, hearing loss, tinnitus, and ear fullness.

Question 209

What is hyperopia?

Answer 209

The eye is too short for the refractive power of the cornea and lens, causing light to be focused behind the retina.

Question 210

What is myopia?

Answer 210

The eye is too long for the refractive power of the cornea and lens, causing light to be focused in front of the retina.

Question 211

What is astigmatism?

Answer 211

Abnormal curvature of the cornea, resulting in different refractive power at different axes.

Question 212

What is presbyopia?

Answer 212

Aging-related impaired accommodation, primarily due to reduced lens elasticity.

Question 213

What is glaucoma?

Answer 213

Optic neuropathy causing progressive vision loss (peripheral to central), usually accompanied by increased intraocular pressure.

Question 214

What is open-angle glaucoma?

Answer 214

Associated with increased resistance to aqueous humor drainage through the trabecular meshwork.

Question 215

What is angle-closure glaucoma?

Answer 215

Anterior chamber angle is narrowed or closed; associated with anatomic abnormalities, leading to obstruction of drainage pathways by the iris.

Question 216

What causes diabetic retinopathy?

Answer 216

Chronic hyperglycemia leading to increased permeability and occlusion of retinal vessels, resulting in microaneurysms and hemorrhages (nonproliferative); retinal neovascularization due to chronic hypoxia (proliferative).

Question 217

What is hypertensive retinopathy?

Answer 217

Chronic hypertension causing spasm, sclerosis, and fibrinoid necrosis of retinal vessels.

Question 218

What is retinal artery occlusion?

Answer 218

Blockage of central or branch retinal artery, usually due to embolism, less commonly due to giant cell arteritis.

Question 219

What is retinal vein occlusion?

Answer 219

Primary thrombosis of the central retinal vein; secondary thrombosis at arteriovenous crossings.

Question 220

What is retinal detachment?

Answer 220

Separation of neurosensory retina from underlying retinal pigment epithelium, leading to loss of choroidal blood supply and degeneration of photoreceptors.

Question 221

What is retinitis pigmentosa?

Answer 221

Progressive degeneration of photoreceptors and retinal pigment epithelium.

Question 222

What causes papilledema?

Answer 222

Increased intracranial pressure (ICP) leading to impaired axoplasmic flow in the optic nerve and optic disc swelling.

Question 223

What is a relative afferent pupillary defect?

Answer 223

Unilateral or asymmetric lesions of the afferent limb of the pupillary reflex.

Question 224

What is Horner syndrome?

Answer 224

Lesions along the sympathetic chain affecting different neurons.

Question 225

What is cavernous sinus syndrome?

Answer 225

Secondary to pituitary tumor mass effect, carotid-cavernous fistula, or cavernous sinus thrombosis related to infection.

Question 226

What is delirium?

Answer 226

Usually secondary to illnesses or medications.

Question 227

What is schizophrenia?

Answer 227

Altered dopaminergic activity, with changes in serotonergic activity and dendritic activity.

Question 228

What is distal renal tubular acidosis (type 1)?

Answer 228

Inability of α-intercalated cells to secrete H+, leading to no new HCO3– generated and metabolic acidosis.

Question 229

What is proximal renal tubular acidosis (type 2)?

Answer 229

Defective PCT HCO3– reabsorption leading to excretion of HCO3– in urine and metabolic acidosis.

Question 230

What is hyperkalemic tubular acidosis (type 4)?

Answer 230

Hypoaldosteronism/aldosterone resistance leading to increased K+ and NH3 synthesis in PCT and increased NH4+ excretion.

Question 231

What is nephritic syndrome?

Answer 231

Glomerular inflammation leading to GBM damage and loss of RBCs in urine.

Question 232

What is nephrotic syndrome?

Answer 232

Podocyte damage leading to impaired charge barrier and proteinuria.

Question 233

What is nephritic-nephrotic syndrome?

Answer 233

Severe GBM damage leading to loss of RBCs in urine and impaired charge barrier, resulting in hematuria and proteinuria.

Question 234

Infection-associated glomerulonephritis

Answer 234

Type III HSR with consumptive hypocomplementemia

Question 235

Alport syndrome

Answer 235

Type IV collagen mutation (X-linked dominant) ## Footnote irregular thinning and thickening and splitting of GBM; nephritic syndrome

Question 236

Stress incontinence

Answer 236

Outlet incompetence (urethral hypermobility/intrinsic sphincter deficiency) ## Footnote leak on q intraabdominal pressure

Question 237

Urge incontinence

Answer 237

Detrusor overactivity ## Footnote leak with urge to void

Question 238

Overflow incontinence

Answer 238

Incomplete emptying (detrusor underactivity or outlet obstruction) ## Footnote leak with overfilling

Question 239

Prerenal azotemia

Answer 239

r RBF ## Footnote r GFR; q reabsorption of Na+/H2O and urea

Question 240

Intrinsic renal failure

Answer 240

Patchy necrosis ## Footnote debris obstructing tubules and fluid backflow; r GFR

Question 241

Postrenal azotemia

Answer 241

Outflow obstruction (bilateral)

Question 242

Adnexal torsion

Answer 242

Twisting of ovary/fallopian tube around infundibulopelvic ligament and ovarian ligament ## Footnote venous/lymphatic blockage; arterial inflow continued; edema; blockade of arterial inflow; necrosis

Question 243

Preeclampsia

Answer 243

Abnormal placental spiral arteries ## Footnote endothelial dysfunction, vasoconstriction, ischemia; new-onset HTN with proteinuria

Question 244

Supine hypotensive syndrome

Answer 244

Supine position ## Footnote compressed abdominal aorta and IVC by gravid uterus; r placental perfusion and r venous return

Question 245

Functional hypothalamic amenorrhea

Answer 245

Severe caloric restriction, q energy expenditure, and/or stress ## Footnote altered pulsatile GnRH secretion; r LH, FSH, estrogen

Question 246

Polycystic ovarian syndrome

Answer 246

Hyperinsulinemia and/or insulin resistance ## Footnote altered hypothalamic feedback response; q LH:FSH; q androgens; r rate of follicular maturation; unruptured follicles (cysts) + anovulation

Question 247

Varicocele

Answer 247

Dilated veins in pampiniform plexus due to q venous pressure ## Footnote enlarged scrotum

Question 248

Methemoglobin

Answer 248

Oxidized Hb secondary to dapsone, local anesthetics, nitrites ## Footnote Hb oxidization (Fe2+); r O2 binding but q cyanide affinity; tissue hypoxia

Question 249

Deep venous thrombosis

Answer 249

Stasis, hypercoagulability, endothelial damage (Virchow triad) ## Footnote blood clot within deep vein

Question 250

Sarcoidosis associated hypercalcemia

Answer 250

Noncaseating granulomas ## Footnote q macrophage activity; q 1α-hydroxylase activity in macrophage; vitamin D activation; q Ca2+

Question 251

Acute respiratory distress syndrome

Answer 251

Alveolar injury ## Footnote 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

Question 252

Sleep apnea

Answer 252

Respiratory effort against airway obstruction (obstructive); impaired respiratory effort due to CNS injury/toxicity, CHF, opioids (central); obesity ## Footnote hypoventilation; q PaCO2 during waking hours

Question 253

Lesch-Nyhan syndrome

Answer 253

Gout, intellectual disability, self-mutilating behavior in a boy ## Footnote HGPRT deficiency, X-linked recessive

Question 254

Primary ciliary dyskinesia

Answer 254

Situs inversus, chronic ear infections, sinusitis, bronchiectasis, infertility

Question 255

Osteogenesis imperfecta

Answer 255

Blue sclera, multiple fractures, dental problems, conductive hearing loss ## Footnote type I collagen defect

Question 256

Ehlers-Danlos syndrome

Answer 256

Elastic skin, hypermobility of joints, q bleeding tendency ## Footnote type V collagen defect, type III collagen defect seen in vascular subtype of ED

Question 257

Marfan syndrome

Answer 257

Arachnodactyly, lens dislocation (upward and temporal), aortic dissection, hyperflexible joints ## Footnote fibrillin defect

Question 258

Homocystinuria

Answer 258

Arachnodactyly, pectus deformity, lens dislocation (downward) ## Footnote autosomal recessive

Question 259

McCune-Albright syndrome

Answer 259

Café-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities ## Footnote Gs-protein activating mutation

Question 260

Cystic fibrosis

Answer 260

Meconium ileus in neonate, recurrent pulmonary infections, nasal polyps, pancreatic insufficiency, infertility/subfertility ## Footnote CFTR gene defect, chromosome 7, ∆F508

Question 261

Muscular dystrophy

Answer 261

Calf pseudohypertrophy ## Footnote most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene

Question 262

Duchenne muscular dystrophy

Answer 262

Child uses arms to stand up from squat ## Footnote Gowers sign

Question 263

Becker muscular dystrophy

Answer 263

Slow, progressive muscle weakness in boys ## Footnote X-linked non-frameshift deletions in dystrophin; less severe than Duchenne

Question 264

Patau syndrome

Answer 264

Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia ## Footnote trisomy 13

Question 265

Edwards syndrome

Answer 265

Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect ## Footnote trisomy 18

Question 266

Down syndrome

Answer 266

Single palmar crease, intellectual disability

Question 267

Cri-du-chat syndrome

Answer 267

Microcephaly, high-pitched cry, intellectual disability

Question 268

Wernicke encephalopathy

Answer 268

Confusion, ophthalmoplegia/nystagmus, ataxia ## Footnote add confabulation/memory loss for Korsakoff syndrome

Question 269

Wet beriberi

Answer 269

Dilated cardiomyopathy/high-output heart failure, edema, alcoholism or malnutrition ## Footnote thiamine [vitamin B1] deficiency

Question 270

Burning feet syndrome

Answer 270

Vitamin B5 deficiency

Question 271

Pellagra

Answer 271

Dermatitis, dementia, diarrhea ## Footnote niacin [vitamin B3] deficiency

Question 272

Scurvy

Answer 272

Swollen gums, mucosal bleeding, poor wound healing, petechiae, corkscrew hairs, perifollicular hemorrhages ## Footnote vitamin C deficiency: can’t hydroxylate proline/lysine for collagen synthesis; tea and toast diet

Question 273

Rickets

Answer 273

Bowlegs (children), bone pain, and muscle weakness ## Footnote vitamin D deficiency

Question 274

Hemorrhagic disease of newborn

Answer 274

with q PT, q aPTT ## Footnote Vitamin K deficiency

Question 275

What are the symptoms of Phenylketonuria?

Answer 275

Intellectual disability, musty body odor, hypopigmented skin, eczema

Question 276

What are the symptoms of Alkaptonuria?

Answer 276

Bluish-black connective tissue, ear cartilage, sclerae; urine turns black on prolonged exposure to air

Question 277

What are the symptoms of Cori disease?

Answer 277

Infant with hypoglycemia, hepatomegaly, cardiomyopathy

Question 278

What are the symptoms of von Gierke disease?

Answer 278

Infant with hypoglycemia, hepatomegaly, cardiomyopathy

Question 279

What are the symptoms of McArdle disease?

Answer 279

Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria

Question 280

What are the symptoms of Tay-Sachs disease?

Answer 280

Cherry-red spots on macula

Question 281

What are the symptoms of Niemann-Pick disease?

Answer 281

Cherry-red spots on macula; hepatosplenomegaly

Question 282

What are the symptoms of Gaucher disease?

Answer 282

Hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of femoral head, bone crises

Question 283

What are the symptoms of Familial hypercholesterolemia?

Answer 283

Achilles tendon xanthoma

Question 284

What are the symptoms of Bruton disease?

Answer 284

Male child, recurrent infections, no mature B cells

Question 285

What are the symptoms of IgA deficiency?

Answer 285

Anaphylaxis following blood transfusion

Question 286

What are the symptoms of Hyper-IgE syndrome?

Answer 286

Recurrent cold (noninflamed) abscesses, eczema, high serum IgE, eosinophils

Question 287

What are the symptoms of Leukocyte adhesion deficiency (type 1)?

Answer 287

Late separation (>30 days) of umbilical cord, no pus, recurrent skin and mucosal bacterial infections

Question 288

What are the symptoms of Chronic granulomatous disease?

Answer 288

Recurrent infections and granulomas with catalase positive organisms

Question 289

What are the symptoms of Staphylococcal toxic shock syndrome?

Answer 289

Fever, vomiting, diarrhea, desquamating rash following use of nasal pack or tampon

Question 290

What are the symptoms of Scarlet fever?

Answer 290

Strawberry tongue; sandpaper rash

Question 291

What are the symptoms of Streptococcus bovis infection?

Answer 291

Colon cancer associated with infective endocarditis

Question 292

What are the symptoms of Clostridium botulinum infection?

Answer 292

Flaccid paralysis in newborn after ingestion of honey

Question 293

What are the symptoms of Clostridioides difficile infection?

Answer 293

Abdominal pain, diarrhea, leukocytosis, recent antibiotic use

Question 294

What are the symptoms of Corynebacterium diphtheriae infection?

Answer 294

Tonsillar pseudomembrane with 'bull’s neck' appearance

Question 295

What are the symptoms of Pott disease?

Answer 295

Back pain, fever, night sweats

Question 296

What are the symptoms of Waterhouse-Friderichsen syndrome?

Answer 296

Adrenal insufficiency, fever, bilateral adrenal hemorrhage

Question 297

What are the symptoms of Klebsiella pneumoniae pneumonia?

Answer 297

Red 'currant jelly' sputum in patients with alcohol overuse or diabetes

Question 298

What are the symptoms of Jarisch-Herxheimer reaction?

Answer 298

Fever, chills, headache, myalgia following antibiotic treatment for syphilis

Question 299

What are the symptoms of Lyme disease?

Answer 299

Large rash with bull’s-eye appearance

Question 300

What are the symptoms of primary syphilis?

Answer 300

Ulcerated genital lesion: nonpainful, indurated chancre

Question 301

What are the symptoms of secondary syphilis?

Answer 301

Smooth, moist, painless, wartlike white lesions on genitals

Question 302

What are the symptoms of Neurosyphilis?

Answer 302

Pupil accommodates but doesn’t react to light

Question 303

What are the symptoms of Pasteurella multocida infection?

Answer 303

Dog or cat bite resulting in infection (cellulitis, osteomyelitis)

Question 304

What are the symptoms of Mycoplasma pneumoniae infection?

Answer 304

Atypical 'walking pneumonia' with x-ray looking worse than the patient

Question 305

What are the symptoms of Coxsackie A infection?

Answer 305

Rash on palms and soles

Question 306

What are the symptoms of Mucor or Rhizopus fungal infection?

Answer 306

Black eschar on face of patient with diabetic ketoacidosis and/or neutropenia

Question 307

What are the symptoms of Congenital toxoplasmosis?

Answer 307

Chorioretinitis, hydrocephalus, intracranial calcifications

Question 308

What are the symptoms of Hookworm infection?

Answer 308

Pruritus, serpiginous rash after walking barefoot

Question 309

What are the symptoms of Erythema infectiosum?

Answer 309

Child with fever later develops red rash on face that spreads to body

Question 310

What are the symptoms of Measles?

Answer 310

Fever, cough, conjunctivitis, coryza, diffuse rash

Question 311

What are Koplik spots?

Answer 311

Small, irregular red spots on buccal/lingual mucosa with blue-white centers

Question 312

What are the symptoms of Aortic regurgitation?

Answer 312

Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing

Question 313

What are the symptoms of Aortic stenosis?

Answer 313

Systolic ejection murmur (crescendo-decrescendo), narrow pulse pressure, pulsus parvus et tardus

Question 314

What are the symptoms of Patent ductus arteriosus (PDA)?

Answer 314

Continuous 'machinelike' heart murmur

Question 315

What are the symptoms of Angina?

Answer 315

Chest pain on exertion

Question 316

What are the symptoms of NSTEMI?

Answer 316

Chest pain with ST depressions on ECG

Question 317

What are the symptoms of Postcardiac injury syndrome?

Answer 317

Chest pain, pericardial effusion/friction rub, persistent fever following MI

Question 318

What are the symptoms of cardiac tamponade?

Answer 318

Distant heart sounds, distended neck veins, hypotension

Question 319

What are Osler nodes?

Answer 319

Painful, raised red lesions on pads of fingers/toes

Question 320

What are Janeway lesions?

Answer 320

Painless erythematous lesions on palms and soles

Question 321

What are the symptoms of Infective endocarditis?

Answer 321

Splinter hemorrhages in fingernails

Question 322

What are Roth spots?

Answer 322

Retinal hemorrhages with pale centers

Question 323

What are the symptoms of Hereditary hemorrhagic telangiectasia?

Answer 323

Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria

Question 324

What are the symptoms of diabetes insipidus?

Answer 324

Polyuria, polydipsia

Question 325

What condition is indicated by no lactation postpartum, absent menstruation, and cold intolerance?

Answer 325

Sheehan syndrome (severe postpartum hemorrhage leading to pituitary infarction) ## Footnote Page 343

Question 326

What are the symptoms of hyperthyroidism?

Answer 326

Heat intolerance, weight loss, palpitations ## Footnote Page 344

Question 327

What are the symptoms of hypothyroidism?

Answer 327

Cold intolerance, weight gain, brittle hair ## Footnote Page 344

Question 328

What condition is characterized by cutaneous/dermal edema due to deposition of mucopolysaccharides?

Answer 328

Myxedema (caused by hypothyroidism or hyperthyroidism [Graves disease]) ## Footnote Page 344

Question 329

What sign indicates hypocalcemia with facial muscle spasm upon tapping?

Answer 329

Chvostek sign ## Footnote Page 348

Question 330

What sign indicates hypocalcemia with carpal spasm upon inflation of a BP cuff?

Answer 330

Trousseau sign ## Footnote Page 348

Question 331

What condition is indicated by rapid, deep, labored breathing?

Answer 331

Diabetic ketoacidosis (Kussmaul respirations) ## Footnote Page 351

Question 332

What are the symptoms of chronic primary adrenal insufficiency?

Answer 332

Skin hyperpigmentation, orthostatic hypotension, fatigue, weakness, muscle aches, weight loss, GI disturbances ## Footnote Page 353

Question 333

What condition presents with shock, altered mental status, vomiting, and abdominal pain in a patient under glucocorticoid therapy?

Answer 333

Acute adrenal insufficiency (adrenal crisis) ## Footnote Page 353

Question 334

What tumors are associated with MEN1?

Answer 334

Pancreatic, pituitary, parathyroid tumors ## Footnote Page 356

Question 335

What conditions are associated with MEN2A?

Answer 335

Medullary thyroid carcinoma, parathyroid hyperplasia, pheochromocytoma ## Footnote Page 356

Question 336

What conditions are associated with MEN2B?

Answer 336

Medullary thyroid carcinoma, pheochromocytoma, mucosal neuromas, marfanoid habitus ## Footnote Page 356

Question 337

What syndrome is indicated by cutaneous flushing, diarrhea, bronchospasm, and heart murmur?

Answer 337

Carcinoid syndrome (q urinary 5-HIAA); indicates systemic dissemination (eg, post liver metastases) ## Footnote Page 357

Question 338

What sign indicates distal malignant obstruction of the biliary tree?

Answer 338

Courvoisier sign (painless jaundice with enlarged gallbladder) ## Footnote Pages 375, 405

Question 339

What condition is indicated by vomiting blood following gastroesophageal lacerations?

Answer 339

Mallory-Weiss syndrome (alcohol use disorder, bulimia nervosa) ## Footnote Page 384

Question 340

What syndrome is characterized by dysphagia, glossitis, and iron deficiency anemia?

Answer 340

Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma) ## Footnote Page 384

Question 341

What does an enlarged, hard left supraclavicular node indicate?

Answer 341

Virchow node (metastasis from abdominal malignancy) ## Footnote Page 386

Question 342

What condition is indicated by hematemesis and melena?

Answer 342

Upper GI bleeding (eg, peptic ulcer disease) ## Footnote Page 387

Question 343

What condition is indicated by hematochezia?

Answer 343

Lower GI bleeding (eg, colonic diverticulosis) ## Footnote Page 387

Question 344

What are the symptoms of Whipple disease?

Answer 344

Arthralgias, cardiac and neurological symptoms, diarrhea ## Footnote Page 388

Question 345

What sign indicates acute appendicitis with severe RLQ pain upon palpation of LLQ?

Answer 345

Rovsing sign ## Footnote Page 390

Question 346

What sign indicates acute appendicitis with severe RLQ pain and deep tenderness?

Answer 346

McBurney sign ## Footnote Page 390

Question 347

What syndrome is characterized by hamartomatous GI polyps and hyperpigmented macules?

Answer 347

Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; q breast/GI cancer risk) ## Footnote Page 394

Question 348

What syndrome is indicated by multiple colon polyps and osteomas/soft tissue tumors?

Answer 348

Gardner syndrome (subtype of FAP) ## Footnote Page 394

Question 349

What condition is indicated by severe jaundice in a neonate?

Answer 349

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia) ## Footnote Page 401

Question 350

What condition is indicated by golden brown rings around the peripheral cornea?

Answer 350

Wilson disease (Kayser-Fleischer rings due to copper accumulation) ## Footnote Page 402

Question 351

What is the classic presentation of cholelithiasis?

Answer 351

Female, fat (obese), fertile (multiparity), forty, fair ## Footnote Page 403

Question 352

What condition presents with painless jaundice and an enlarged gallbladder?

Answer 352

Cancer of pancreatic head obstructing the bile duct ## Footnote Page 405

Question 353

What sign indicates lead poisoning?

Answer 353

Burton line (bluish line on gingiva) ## Footnote Page 425

Question 354

What condition is indicated by short stature, café-au-lait spots, and thumb/radial defects?

Answer 354

Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML) ## Footnote Page 427

Question 355

What condition is indicated by red/pink urine and fragile RBCs?

Answer 355

Paroxysmal nocturnal hemoglobinuria ## Footnote Page 428

Question 356

What condition is indicated by painful blue fingers/toes and hemolytic anemia?

Answer 356

Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL) ## Footnote Page 429

Question 357

What are the symptoms of platelet disorders?

Answer 357

Petechiae, mucosal bleeding, prolonged bleeding time ## Footnote Page 432

Question 358

What are the B symptoms of malignancy?

Answer 358

Fever, night sweats, weight loss ## Footnote Page 434

Question 359

What condition is characterized by skin patches/plaques and atypical T cells?

Answer 359

Mycosis fungoides (cutaneous T-cell lymphoma) or Sézary syndrome (mycosis fungoides + malignant T cells in blood) ## Footnote Page 435

Question 360

What condition is indicated by a neonate with arm paralysis following a difficult birth?

Answer 360

Erb-Duchenne palsy (superior trunk [C5–C6] brachial plexus injury) ## Footnote Page 452

Question 361

What sign indicates an anterior cruciate ligament injury?

Answer 361

Anterior drawer sign ⊕ ## Footnote Page 455

Question 362

What condition is indicated by bone pain and chalk-stick fractures?

Answer 362

Osteitis deformans (Paget disease of bone, q osteoblastic and osteoclastic activity) ## Footnote Page 468

Question 363

What condition is indicated by swollen, hard, painful finger joints in an elderly individual?

Answer 363

Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes]) ## Footnote Page 472

Question 364

What condition is indicated by a sudden swollen/painful big toe joint?

Answer 364

Gout/podagra (hyperuricemia) ## Footnote Page 473

Question 365

What are the symptoms of Sjögren syndrome?

Answer 365

Dry eyes, dry mouth, arthritis ## Footnote Page 474

Question 366

What condition is associated with urethritis, conjunctivitis, and arthritis in a male?

Answer 366

Reactive arthritis associated with HLA-B27 ## Footnote Page 475

Question 367

What condition is indicated by a butterfly facial rash, arthritis, cytopenia, and fever in a young female?

Answer 367

Systemic lupus erythematosus ## Footnote Page 476

Question 368

What condition is characterized by cervical lymphadenopathy, desquamating rash, and coronary aneurysms?

Answer 368

Kawasaki disease (mucocutaneous lymph node syndrome, treat with IVIG and aspirin) ## Footnote Page 478

Question 369

What condition is indicated by palpable purpura on buttocks/legs, joint pain, and abdominal pain in a child?

Answer 369

Immunoglobulin A vasculitis (Henoch-Schönlein purpura, affects skin and kidneys) ## Footnote Page 479

Question 370

What phenomenon is characterized by painful fingers/toes changing color from white to blue to red?

Answer 370

Raynaud phenomenon (vasospasm in extremities) ## Footnote Page 480

Question 371

What condition is indicated by dark purple skin/mouth nodules in a patient with AIDS?

Answer 371

Kaposi sarcoma, associated with HHV-8 ## Footnote Page 486

Question 372

What condition is characterized by pruritic, purple, polygonal planar papules and plaques?

Answer 372

Lichen planus ## Footnote Page 491

Question 373

What sign indicates an upper motor neuron lesion?

Answer 373

Babinski sign (dorsiflexion of large toe with fanning of other toes upon plantar scrape) ## Footnote Pages 525, 545

Question 374

What are the symptoms of a cerebellar lesion?

Answer 374

Truncal ataxia, nystagmus, head tilting, fall towards injured side ## Footnote Page 5

Question 375

What syndrome is characterized by hyperphagia, hypersexuality, and hyperorality?

Answer 375

Klüver-Bucy syndrome (bilateral amygdala lesion) ## Footnote Page 526

Question 376

What clinical presentation includes resting tremor, athetosis, and chorea?

Answer 376

Basal ganglia lesion ## Footnote Page 526

Question 377

What syndrome presents with dysphagia, hoarseness, and nystagmus?

Answer 377

Lateral medullary (Wallenberg) syndrome (posterior inferior cerebellar artery lesion) ## Footnote Page 529

Question 378

What condition is indicated by a lucid interval after traumatic brain injury?

Answer 378

Epidural hematoma (middle meningeal artery rupture; branch of maxillary artery) ## Footnote Page 530

Question 379

What is described as the 'worst headache of my life'?

Answer 379

Subarachnoid hemorrhage ## Footnote Page 530

Question 380

What disease is characterized by resting tremor, rigidity, and shuffling gait?

Answer 380

Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta) ## Footnote Page 536

Question 381

What condition involves chorea, dementia, and caudate degeneration?

Answer 381

Huntington disease (autosomal dominant CAG repeat expansion) ## Footnote Page 536

Question 382

What clinical presentation includes urinary incontinence and gait apraxia?

Answer 382

Normal pressure hydrocephalus ## Footnote Page 538

Question 383

What condition is characterized by relapsing and remitting nystagmus and intention tremor?

Answer 383

Multiple sclerosis ## Footnote Page 539

Question 384

What syndrome presents with rapidly progressive limb weakness after a GI infection?

Answer 384

Guillain-Barré syndrome (acute inflammatory demyelinating polyneuropathy) ## Footnote Page 540

Question 385

What condition is associated with café-au-lait spots and Lisch nodules?

Answer 385

Neurofibromatosis type I ## Footnote Page 541

Question 386

What is a vascular birthmark (port-wine stain) of the face called?

Answer 386

Nevus flammeus (benign, but associated with Sturge-Weber syndrome) ## Footnote Page 541

Question 387

What disease includes renal cell carcinoma and hemangioblastomas?

Answer 387

von Hippel-Lindau disease (deletion of VHL on chromosome 3p) ## Footnote Page 541

Question 388

What condition is characterized by bilateral vestibular schwannomas?

Answer 388

Neurofibromatosis type II ## Footnote Page 541

Question 389

What signs indicate upper motor neuron damage?

Answer 389

Hyperreflexia, hypertonia, Babinski sign present ## Footnote Page 545

Question 390

What signs indicate lower motor neuron damage?

Answer 390

Hyporeflexia, hypotonia, atrophy, fasciculations ## Footnote Page 545

Question 391

What condition presents with staggering gait and frequent falls?

Answer 391

Friedreich ataxia ## Footnote Page 547

Question 392

What condition involves unilateral facial drooping involving the forehead?

Answer 392

LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead ## Footnote Page 548

Question 393

What condition is characterized by episodic vertigo and tinnitus?

Answer 393

Ménière disease ## Footnote Page 550

Question 394

What syndrome presents with ptosis, miosis, and anhidrosis?

Answer 394

Horner syndrome (sympathetic chain lesion) ## Footnote Page 557

Question 395

What condition is indicated by conjugate horizontal gaze palsy?

Answer 395

Internuclear ophthalmoplegia (damage to MLF; may be unilateral or bilateral) ## Footnote Page 560

Question 396

What condition is characterized by 'waxing and waning' level of consciousness?

Answer 396

Delirium (usually 2° to other cause) ## Footnote Page 577

Question 397

What syndrome includes polyuria and renal tubular acidosis type II?

Answer 397

Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule) ## Footnote Page 606

Question 398

What condition presents with periorbital edema and proteinuria?

Answer 398

Nephrotic syndrome ## Footnote Page 615

Question 399

What syndrome is associated with hereditary nephritis and sensorineural hearing loss?

Answer 399

Alport syndrome (mutation in type IV collagen) ## Footnote Page 617

Question 400

What condition includes Wilms tumor and macroglossia?

Answer 400

Beckwith-Wiedemann syndrome (WT2 mutation) ## Footnote Page 626

Question 401

What syndrome is characterized by streak ovaries and short stature?

Answer 401

Turner syndrome (45,XO) ## Footnote Page 657

Question 402

What condition involves ovarian fibroma and ascites?

Answer 402

Meigs syndrome ## Footnote Page 667

Question 403

What condition presents with a red, itchy rash of the nipple?

Answer 403

Paget disease of the breast (sign of underlying neoplasm) ## Footnote Page 670

Question 404

What condition involves fibrous plaques in the tunica albuginea of the penis?

Answer 404

Peyronie disease (connective tissue disorder) ## Footnote Page 671

Question 405

What condition is characterized by a pink complexion and dyspnea?

Answer 405

Emphysema ('pink puffer,' centriacinar [tobacco smoking] or panacinar [α1-antitrypsin deficiency]) ## Footnote Page 694

Question 406

What condition presents with hypoxemia and polycythemia?

Answer 406

Chronic bronchitis (hypertrophy and hyperplasia of mucus-secreting glands, 'blue bloater') ## Footnote Page 695

Question 407

What condition is characterized by bilateral hilar adenopathy and uveitis?

Answer 407

Sarcoidosis (noncaseating granulomas) ## Footnote Page 695

Question 408

Colonies of Pseudomonas in lungs

Answer 408

Cystic fibrosis (autosomal recessive mutation in CFTR gene, fat-soluble vitamin deficiency and mucous plugs) ## Footnote Page 58

Question 409

Increased AFP on second trimester screening

Answer 409

Down syndrome, Edwards syndrome ## Footnote Page 61

Question 410

Decreased β-hCG, Increased PAPP-A on first trimester screening

Answer 410

Down syndrome ## Footnote Page 61

Question 411

Decreased serum homocysteine, decreased methylmalonic acid, r folate

Answer 411

Vitamin B12 deficiency ## Footnote Page 67

Question 412

Anti-histone antibodies

Answer 412

Drug-induced lupus ## Footnote Page 113

Question 413

Increased T cells, Increased PTH, Increased Ca2+, absent thymic shadow on CXR

Answer 413

Thymic aplasia (DiGeorge syndrome, velocardiofacial syndrome) ## Footnote Page 114

Question 414

Recurrent infections, eczema, thrombocytopenia

Answer 414

Wiskott-Aldrich syndrome ## Footnote Page 115

Question 415

Large granules in phagocytes, immunodeficiency

Answer 415

Chédiak-Higashi disease (congenital failure of phagolysosome formation) ## Footnote Page 115

Question 416

Optochin sensitivity

Answer 416

Sensitive: S pneumoniae; resistant: viridans streptococci (S mutans, S sanguis) ## Footnote Page 132

Question 417

Novobiocin response

Answer 417

Sensitive: S epidermidis; resistant: S saprophyticus ## Footnote Page 132

Question 418

Bacitracin response

Answer 418

Sensitive: S pyogenes (group A); resistant: S agalactiae (group B) ## Footnote Page 132

Question 419

Branching gram ⊕ rods with sulfur granules

Answer 419

Actinomyces israelii ## Footnote Page 137

Question 420

Hilar lymphadenopathy, peripheral granulomatous lesion in middle or lower lung lobes (can calcify)

Answer 420

Ghon complex (1° TB: Mycobacterium bacilli) ## Footnote Page 138

Question 421

“Thumb sign” on lateral neck x-ray

Answer 421

Epiglottitis (Haemophilus influenzae) ## Footnote Page 140

Question 422

Bacteria-covered vaginal epithelial cells, ⊕ whiff test

Answer 422

“Clue cells” (Gardnerella vaginalis) ## Footnote Page 147

Question 423

Ring-enhancing brain lesion on CT/MRI in AIDS

Answer 423

Toxoplasma gondii (multiple), CNS lymphoma (may be solitary) ## Footnote Pages 153, 174

Question 424

Dilated cardiomyopathy with apical atrophy, megacolon, megaesophagus

Answer 424

Chagas disease (Trypanosoma cruzi) ## Footnote Page 155

Question 425

Atypical lymphocytes, heterophile antibodies

Answer 425

Infectious mononucleosis (EBV infection) ## Footnote Page 162

Question 426

Narrowing of upper trachea and subglottis (Steeple sign) on x-ray

Answer 426

Croup (parainfluenza virus) ## Footnote Page 167

Question 427

Eosinophilic inclusion bodies in cytoplasm of hippocampal and cerebellar neurons

Answer 427

Negri bodies of rabies ## Footnote Page 169

Question 428

Psammoma bodies

Answer 428

Meningiomas, papillary thyroid carcinoma, mesothelioma, papillary serous carcinoma of the endometrium and ovary ## Footnote Page 207

Question 429

“Boot-shaped” heart on x-ray

Answer 429

Tetralogy of Fallot (due to RVH) ## Footnote Page 302

Question 430

Rib notching (inferior surface, on x-ray)

Answer 430

Coarctation of the aorta ## Footnote Page 304

Question 431

“Delta wave” on ECG, short PR interval, supraventricular tachycardia

Answer 431

Wolff-Parkinson-White syndrome (bundle of Kent bypasses AV node) ## Footnote Page 311

Question 432

Electrical alternans (alternating amplitude on ECG)

Answer 432

Cardiac tamponade ## Footnote Page 317

Question 433

Granuloma with giant cells after pharyngeal infection

Answer 433

Aschoff bodies (rheumatic fever) ## Footnote Page 319

Question 434

Empty-appearing nuclei with central clearing of thyroid cells

Answer 434

“Orphan Annie” eyes nuclei (papillary carcinoma of the thyroid) ## Footnote Page 347

Question 435

“Brown” tumor of bone

Answer 435

Hyperparathyroidism or osteitis fibrosa cystica (deposited hemosiderin from hemorrhage gives brown color) ## Footnote Pages 349, 469

Question 436

Hypertension, hypokalemia, metabolic alkalosis

Answer 436

1° hyperaldosteronism (eg, Conn syndrome) ## Footnote Page 354

Question 437

Mucin-filled cell with peripheral nucleus

Answer 437

“Signet ring” cells (diffuse gastric carcinoma) ## Footnote Page 386

Question 438

Anti-transglutaminase/anti-gliadin/anti-endomysial antibodies

Answer 438

Celiac disease (diarrhea, weight loss) ## Footnote Page 388

Question 439

Narrowing of bowel lumen on barium x-ray

Answer 439

“String sign” (Crohn disease) ## Footnote Page 389

Question 440

“Lead pipe” appearance of colon on abdominal imaging

Answer 440

Ulcerative colitis (loss of haustra) ## Footnote Page 389

Question 441

Thousands of polyps on colonoscopy

Answer 441

Familial adenomatous polyposis (autosomal dominant, mutation of APC gene) ## Footnote Page 394

Question 442

“Apple core” lesion on barium enema x-ray

Answer 442

Colorectal cancer (usually left-sided) ## Footnote Page 395

Question 443

Eosinophilic cytoplasmic inclusion in liver cell

Answer 443

Mallory body (alcoholic liver disease) ## Footnote Page 398

Question 444

Triglyceride accumulation in liver cell vacuoles

Answer 444

Fatty liver disease (alcoholic or metabolic syndrome) ## Footnote Page 398

Question 445

Anti-smooth muscle antibodies (ASMAs), anti-liver/kidney microsomal-1 (anti-LKM1) antibodies

Answer 445

Autoimmune hepatitis ## Footnote Page 398

Question 446

“Nutmeg” appearance of liver

Answer 446

Chronic passive congestion of liver due to right heart failure or Budd-Chiari syndrome ## Footnote Page 399

Question 447

Antimitochondrial antibodies (AMAs)

Answer 447

1° biliary cholangitis (female, cholestasis, portal hypertension) ## Footnote Page 402

Question 448

Low serum ceruloplasmin

Answer 448

Wilson disease (hepatolenticular degeneration; Kayser-Fleischer rings due to copper accumulation) ## Footnote Page 402

Question 449

Migratory thrombophlebitis (leading to migrating DVTs and vasculitis)

Answer 449

Trousseau syndrome (adenocarcinoma of pancreas) ## Footnote Page 405

Question 450

Hypersegmented neutrophils

Answer 450

Megaloblastic anemia (vitamin B12 deficiency: neurologic symptoms; folate deficiency: no neurologic symptoms) ## Footnote

Question 451

Basophilic nuclear remnants in RBCs

Answer 451

Howell-Jolly bodies (due to splenectomy or nonfunctional spleen)

Question 452

Basophilic stippling of RBCs

Answer 452

Sideroblastic anemias, thalassemias

Question 453

Hypochromic, microcytic anemia

Answer 453

Iron deficiency anemia, lead poisoning, thalassemia (fetal hemoglobin sometimes present) ## Footnote Pages 424, 425

Question 454

“Hair on end” (“crew cut”) appearance on x-ray

Answer 454

β-thalassemia, sickle cell anemia (marrow expansion) ## Footnote Pages 425, 428

Question 455

Anti-GpIIb/IIIa antibodies

Answer 455

Immune thrombocytopenia

Question 456

High level of d-dimers

Answer 456

DVT, DIC ## Footnote Pages 433, 692

Question 457

Giant B cells with bilobed nucleus with prominent inclusions

Answer 457

Reed-Sternberg cells (Hodgkin lymphoma)

Question 458

Sheets of medium-sized lymphoid cells with scattered pale, tingible body–laden macrophages

Answer 458

Burkitt lymphoma (t[8:14] c-myc activation, associated with EBV; “starry sky” made up of malignant cells)

Question 459

Lytic (“punched-out”) bone lesions on x-ray

Answer 459

Multiple myeloma

Question 460

Monoclonal spike on serum protein electrophoresis

Answer 460

Multiple myeloma (usually IgG or IgA), Waldenström macroglobulinemia (IgM), Monoclonal gammopathy of undetermined significance

Question 461

Stacks of RBCs

Answer 461

Rouleaux formation (high ESR, multiple myeloma)

Question 462

Myeloperoxidase ⊕ cytoplasmic inclusions in myeloblasts, with circulating myeloblasts

Answer 462

Auer rods (APL)

Question 463

WBCs that look “smudged”

Answer 463

CLL

Question 464

“Tennis racket”-shaped cytoplasmic organelles (EM) in Langerhans cells

Answer 464

Birbeck granules (Langerhans cell histiocytosis)

Question 465

“Soap bubble” in femur or tibia on x-ray

Answer 465

Giant cell tumor of bone (generally benign)

Question 466

Raised periosteum (creating a “Codman triangle”)

Answer 466

Aggressive bone lesion (eg, osteosarcoma, Ewing sarcoma)

Question 467

“Onion skin” periosteal reaction

Answer 467

Ewing sarcoma (malignant small blue cell tumor)

Question 468

IgM antibody that targets IgG Fc region

Answer 468

Rheumatoid arthritis (systemic inflammation, joint pannus, boutonniere and swan neck deformities)

Question 469

Rhomboid crystals, ⊕ birefringent

Answer 469

Pseudogout (calcium pyrophosphate dihydrate crystals)

Question 470

Needle-shaped, ⊝ birefringent crystals

Answer 470

Gout (monosodium urate crystals)

Question 471

Uric acid levels

Answer 471

Gout, Lesch-Nyhan syndrome, tumor lysis syndrome, loop and thiazide diuretics

Question 472

“Bamboo spine” on x-ray

Answer 472

Ankylosing spondylitis (chronic inflammatory arthritis: HLA-B27)

Question 473

Antinuclear antibodies (ANAs: anti-Smith and anti-dsDNA)

Answer 473

SLE (type III hypersensitivity)

Question 474

Antineutrophil cytoplasmic antibodies (ANCAs)

Answer 474

Microscopic polyangiitis, eosinophilic granulomatosis with polyangiitis, and primary sclerosing cholangitis (MPO-ANCA/p-ANCA); granulomatosis with polyangiitis (PR3-ANCA/c-ANCA)

Question 475

Anticentromere antibodies

Answer 475

Limited scleroderma (CREST syndrome)

Question 476

Anti-Scl-70 (anti-DNA topoisomerase-I) and anti-RNA polymerase III antibodies

Answer 476

Diffuse scleroderma

Question 477

Anti-desmoglein (anti-desmosome) antibodies

Answer 477

Pemphigus vulgaris

Question 478

Antihemidesmosome antibodies

Answer 478

Bullous pemphigoid

Question 479

Keratin pearls on a skin biopsy

Answer 479

Squamous cell carcinoma

Question 480

AFP in amniotic fluid/maternal serum

Answer 480

Dating error, anencephaly, spina bifida (open neural tube defects)

Question 481

Bloody or yellow tap on lumbar puncture

Answer 481

Xanthochromia (due to subarachnoid hemorrhage)

Question 482

Eosinophilic cytoplasmic inclusion in neuron

Answer 482

Lewy body (Parkinson disease and Lewy body dementia)

Question 483

Extracellular amyloid deposition in gray matter of brain

Answer 483

Senile plaques (Alzheimer disease)

Question 484

Depigmentation of neurons in substantia nigra

Answer 484

Parkinson disease (basal ganglia disorder: rigidity, resting tremor, bradykinesia)

Question 485

Protein aggregates in neurons from hyperphosphorylation of tau protein

Answer 485

Neurofibrillary tangles (Alzheimer disease) and Pick bodies (Pick disease)

Question 486

Silver-staining spherical aggregation of tau proteins in neurons

Answer 486

Pick bodies (frontotemporal dementia: progressive dementia, changes in personality)

Question 487

Pseudopalisading pleomorphic tumor cells on brain biopsy

Answer 487

Glioblastoma

Question 488

Small blue cells surrounding central area of neuropil

Answer 488

Homer-Wright rosettes (neuroblastoma, medulloblastoma)

Question 489

“Waxy” casts with very low urine flow

Answer 489

Chronic end-stage renal disease

Question 490

WBC casts in urine

Answer 490

Acute pyelonephritis, transplant rejection, tubulointerstitial inflammation

Question 491

RBC casts in urine

Answer 491

Glomerulonephritis

Question 492

Anti–glomerular basement membrane antibodies

Answer 492

Goodpasture syndrome (glomerulonephritis and hemoptysis)

Question 493

Cellular crescents in Bowman capsule

Answer 493

Rapidly progressive (crescentic) glomerulonephritis

Question 494

“Wire loop” glomerular capillary appearance on light microscopy

Answer 494

Diffuse proliferative glomerulonephritis (usually seen with lupus)

Question 495

Linear appearance of IgG deposition on glomerular and alveolar basement membranes

Answer 495

Goodpasture syndrome

Question 496

“Lumpy bumpy” appearance of glomeruli on immunofluorescence

Answer 496

Infection-related glomerulonephritis (due to deposition of IgG, IgM, and C3)

Question 497

Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis

Answer 497

Granulomatosis with polyangiitis (PR3-ANCA/c-ANCA) and Goodpasture syndrome (anti–basement membrane antibodies)

Question 498

“Tram-track” appearance of capillary loops of glomerular basement membranes on light microscopy

Answer 498

Membranoproliferative glomerulonephritis

Question 499

Nodular hyaline deposits in glomeruli

Answer 499

Kimmelstiel-Wilson nodules (diabetic glomerulonephropathy)

Question 500

Podocyte fusion or “effacement” on electron microscopy

Answer 500

Minimal change disease (child with nephrotic syndrome)

Question 501

“Spikes” on basement membrane, “domelike” subepithelial deposits

Answer 501

Membranous nephropathy (nephrotic syndrome)

Question 502

What is the diagnosis associated with a thyroidlike appearance of the kidney?

Answer 502

Chronic pyelonephritis (usually due to recurrent infections)

Question 503

What does the presence of granular casts in urine indicate?

Answer 503

Acute tubular necrosis (e.g., ischemia or toxic injury)

Question 504

What conditions can cause elevated hCG levels?

Answer 504

Multifetal gestation, hydatidiform moles, choriocarcinomas, Down syndrome

Question 505

What are dysplastic squamous cervical cells with 'raisinoid' nuclei and hyperchromasia indicative of?

Answer 505

Koilocytes (HPV: predisposes to cervical cancer)

Question 506

What is characterized by sheets of uniform 'fried egg' cells?

Answer 506

Dysgerminoma

Question 507

What are Schiller-Duval bodies associated with?

Answer 507

Yolk sac tumor

Question 508

What is indicated by disarrayed granulosa cells around eosinophilic fluid collections?

Answer 508

Call-Exner bodies (granulosa cell tumor of the ovary)

Question 509

What does a 'chocolate cyst' of the ovary indicate?

Answer 509

Endometriosis (frequently involves both ovaries)

Question 510

What condition is associated with a mammary gland 'blue domed' cyst?

Answer 510

Fibrocystic change of the breast

Question 511

What are Reinke crystals indicative of?

Answer 511

Leydig cell tumor

Question 512

What are Lines of Zahn?

Answer 512

Thrombi made of white/red layers (arterial thrombus, layers of platelets/RBCs)

Question 513

What condition is associated with hexagonal, double-pointed, needlelike crystals in bronchial secretions?

Answer 513

Bronchial asthma (Charcot-Leyden crystals: eosinophilic granules)

Question 514

What do desquamated epithelium casts in sputum indicate?

Answer 514

Curschmann spirals (bronchial asthma; can result in whorled mucous plugs)

Question 515

What does 'honeycomb lung' on x-ray or CT suggest?

Answer 515

Idiopathic pulmonary fibrosis

Question 516

What are ferruginous bodies associated with?

Answer 516

Asbestosis (q chance of lung cancer)

Question 517

What is indicated by a bronchogenic apical lung tumor on imaging?

Answer 517

Pancoast tumor (can compress cervical sympathetic chain and cause Horner syndrome)

Question 518

What is the inheritance pattern of mitochondrial inheritance?

Answer 518

Disease occurs in all offspring of affected females (maternal inheritance pattern), heteroplasmy

Question 519

What are common causes of intellectual disability?

Answer 519

Down syndrome, fragile X syndrome

Question 520

What vitamin deficiency is most common in the USA?

Answer 520

Folate (pregnant women are at high risk; body stores only 3- to 4-month supply)

Question 521

What is the most common lysosomal storage disease?

Answer 521

Gaucher disease

Question 522

What diseases are associated with HLA-DR3?

Answer 522

DM type 1, SLE, Graves disease, Hashimoto thyroiditis, Addison disease

Question 523

What diseases are associated with HLA-DR4?

Answer 523

Rheumatoid arthritis, type 1 DM, Addison disease

Question 524

Bacteria associated with gastritis, peptic ulcer disease, and gastric malignancies

Answer 524

H pylori

Question 525

Opportunistic respiratory infection in AIDS

Answer 525

Pneumocystis jirovecii

Question 526

Viral encephalitis affecting temporal lobe

Answer 526

HSV-1

Question 527

Viral infection secondary to blood transfusion

Answer 527

Hepatitis C

Question 528

Food poisoning (exotoxin mediated)

Answer 528

S aureus, B cereus

Question 529

Healthcare-associated pneumonia

Answer 529

S aureus, Pseudomonas, other gram negative rods

Question 530

Bacterial meningitis (> 6 months old)

Answer 530

S pneumoniae

Question 531

Bacterial meningitis (newborns 0–6 months old)

Answer 531

Group B streptococcus/E coli/Listeria

Question 532

Most common cause of osteomyelitis

Answer 532

S aureus

Question 533

Osteomyelitis in sickle cell disease

Answer 533

Salmonella and S aureus

Question 534

Osteomyelitis with injection drug use

Answer 534

S aureus, Pseudomonas, Candida

Question 535

Most common bacteria causing UTI

Answer 535

E coli, Staphylococcus saprophyticus

Question 536

Bacterial STI

Answer 536

C trachomatis

Question 537

Pelvic inflammatory disease

Answer 537

C trachomatis (subacute), N gonorrhoeae (acute)

Question 538

Most common metastases to bone

Answer 538

Prostate, breast >> lung > kidney, colon

Question 539

Most common metastases to brain

Answer 539

Lung > breast >> melanoma > colon, prostate

Question 540

Most common metastases to liver

Answer 540

Colon > breast >> pancreas, lung, prostate

Question 541

S3 heart sound indicates

Answer 541

Increased ventricular filling pressure (e.g., MR, AR, HF, thyrotoxicosis)

Question 542

S4 heart sound indicates

Answer 542

Stiff/hypertrophic ventricle (aortic stenosis, restrictive cardiomyopathy)

Question 543

Holosystolic murmur is associated with

Answer 543

VSD, tricuspid regurgitation, mitral regurgitation

Question 544

Ejection click is associated with

Answer 544

Aortic stenosis

Question 545

Mitral stenosis is associated with

Answer 545

Rheumatic heart disease

Question 546

Opening snap is associated with

Answer 546

Mitral stenosis

Question 547

Congenital heart murmur is associated with

Answer 547

Mitral valve prolapse

Question 548

Most common early cyanotic heart disease

Answer 548

Tetralogy of Fallot

Question 549

Late cyanotic shunt (uncorrected left to right becomes right to left)

Answer 549

Eisenmenger syndrome (caused by VSD, ASD, PDA)

Question 550

Congenital heart disease (left-to-right shunts)

Answer 550

VSD > ASD > PDA

Question 551

Secondary hypertension causes

Answer 551

Renal/renovascular diseases, atherosclerotic renal artery stenosis, 1° hyperaldosteronism, obstructive sleep apnea

Question 552

Thoracic aortic aneurysm is associated with

Answer 552

Marfan syndrome, tertiary syphilis

Question 553

Abdominal aortic aneurysm is associated with

Answer 553

Atherosclerosis, tobacco use

Question 554

Sites of atherosclerosis

Answer 554

Abdominal aorta > coronary artery > popliteal artery > carotid artery

Question 555

Most important risk factor for aortic dissection

Answer 555

Hypertension

Question 556

Irregularly irregular rhythm on ECG with no discrete P waves

Answer 556

Atrial fibrillation

Question 557

Right heart failure due to pulmonary cause

Answer 557

Cor pulmonale

Question 558

Most common heart valve in infective endocarditis

Answer 558

Mitral > aortic, tricuspid (injection drug use)

Question 559

Infective endocarditis presentation associated with S aureus

Answer 559

Acute, injection drug use, tricuspid valve

Question 560

Infective endocarditis presentation associated with viridans streptococci

Answer 560

Subacute, dental procedure

Question 561

Infective endocarditis presentation associated with S gallolyticus

Answer 561

Colon cancer

Question 562

Infective endocarditis presentation associated with gram negative (HACEK)

Answer 562

Culture negative (Coxiella, Bartonella)

Question 563

Most common cardiac tumor in adults

Answer 563

Metastasis, myxoma

Question 564

Most common primary cardiac tumor in kids

Answer 564

Rhabdomyoma (associated with tuberous sclerosis)

Question 565

Congenital adrenal hyperplasia is due to

Answer 565

21-hydroxylase deficiency

Question 566

Most common cause of hypopituitarism

Answer 566

Pituitary adenoma

Question 567

Most common cause of congenital hypothyroidism

Answer 567

Thyroid dysgenesis/dyshormonogenesis, iodine deficiency

Question 568

Most common type of thyroid cancer

Answer 568

Papillary carcinoma

Question 569

Most common cause of hypoparathyroidism

Answer 569

Accidental excision during thyroidectomy

Question 570

Causes of primary hyperparathyroidism

Answer 570

Adenomas, hyperplasia, carcinoma

Question 571

Cause of secondary hyperparathyroidism

Answer 571

Hypocalcemia of chronic kidney disease

Question 572

Causes of Cushing syndrome

Answer 572

Exogenous glucocorticoids, adrenocortical adenoma, ACTH-secreting pituitary adenoma, paraneoplastic

Question 573

Cause of primary hyperaldosteronism

Answer 573

Bilateral adrenal hyperplasia or adenoma (Conn syndrome)

Question 574

Most common tumor of the adrenal medulla in kids

Answer 574

Neuroblastoma

Question 575

Most common tumor of the adrenal medulla in adults

Answer 575

Pheochromocytoma

Question 576

Refractory peptic ulcers and high gastrin levels indicate

Answer 576

Zollinger-Ellison syndrome (gastrinoma of duodenum or pancreas)

Question 577

Most common type of esophageal cancer worldwide

Answer 577

Squamous cell carcinoma

Question 578

Most common type of esophageal cancer in the US

Answer 578

Adenocarcinoma

Question 579

Acute gastric ulcer associated with CNS injury

Answer 579

Cushing ulcer

Question 580

Acute gastric ulcer associated with severe burns

Answer 580

Curling ulcer

Question 581

Bilateral ovarian metastases from gastric carcinoma

Answer 581

Krukenberg tumor

Question 582

Chronic atrophic gastritis (autoimmune) predisposes to

Answer 582

Gastric carcinoma

Question 583

Alternating areas of transmural inflammation and normal colon indicate

Answer 583

Skip lesions (Crohn disease)

Question 584

Site of diverticulosis

Answer 584

Sigmoid colon

Question 585

Diverticulum in pharynx

Answer 585

Zenker diverticulum

Question 586

Hepatocellular carcinoma

Answer 586

HBV (+/– cirrhosis) or other causes of cirrhosis (e.g., alcoholic liver disease, hemochromatosis), aflatoxins

Question 587

Congenital conjugated hyperbilirubinemia (black liver)

Answer 587

Dubin-Johnson syndrome (inability of hepatocytes to secrete conjugated bilirubin into bile)

Question 588

Hereditary harmless jaundice

Answer 588

Gilbert syndrome (benign congenital unconjugated hyperbilirubinemia)

Question 589

Wilson disease

Answer 589

Hereditary ATP7B mutation (copper buildup in liver, brain, cornea [Kayser-Fleischer rings], kidneys)

Question 590

Hemochromatosis

Answer 590

Multiple blood transfusions or hereditary HFE mutation (can result in heart failure, 'bronze diabetes,' and increased risk of hepatocellular carcinoma)

Question 591

Pancreatitis (acute)

Answer 591

Gallstones, alcohol

Question 592

Pancreatitis (chronic)

Answer 592

Alcohol (adults), cystic fibrosis (children)

Question 593

Microcytic anemia

Answer 593

Iron deficiency, thalassemias, lead poisoning, sideroblastic anemia

Question 594

Autosplenectomy (fibrosis and shrinkage), Howell-Jolly bodies

Answer 594

Sickle cell anemia (hemoglobin S)

Question 595

Platelet disorder with GpIb deficiency

Answer 595

Bernard-Soulier syndrome (defect in platelet adhesion to von Willebrand factor)

Question 596

Platelet disorder with GpIIb/IIIa deficiency

Answer 596

Glanzmann thrombasthenia (defect in platelet-to-platelet aggregation and platelet plug formation)

Question 597

Inherited bleeding disorder

Answer 597

von Willebrand disease

Question 598

Hereditary thrombophilia

Answer 598

Leiden (also associated with recurrent pregnancy loss)

Question 599

DIC

Answer 599

Stroke, snake bite, sepsis, trauma, obstetric complications, acute pancreatitis, malignancy, nephrotic syndrome, transfusion

Question 600

Malignancy associated with noninfectious fever

Answer 600

Hodgkin lymphoma

Question 601

Type of Hodgkin lymphoma (most common)

Answer 601

Nodular sclerosis

Question 602

t(14;18)

Answer 602

Follicular lymphoma (BCL-2 activation, anti-apoptotic oncogene)

Question 603

t(8;14)

Answer 603

Burkitt lymphoma (c-myc fusion, transcription factor oncogene)

Question 604

Type of non-Hodgkin lymphoma (most common in adults)

Answer 604

Diffuse large B-cell lymphoma

Question 605

1° bone tumor (older adults)

Answer 605

Multiple myeloma

Question 606

Age ranges for patient with ALL/CLL/AML/CML

Answer 606

ALL: child, CLL: adult > 60, AML: adult ∼ 65, CML: adult 45–85

Question 607

Malignancy (kids)

Answer 607

Leukemia, brain tumors

Question 608

t(9;22)

Answer 608

Philadelphia chromosome, CML (BCR-ABL oncogene, tyrosine kinase activation), more rarely associated with ALL

Question 609

Vertebral compression fracture

Answer 609

Osteoporosis

Question 610

HLA-B27

Answer 610

Psoriatic arthritis, ankylosing spondylitis, IBD-associated arthritis, reactive arthritis

Question 611

Death in SLE

Answer 611

Renal disease (most common), infections, cardiovascular disease (accelerated CAD)

Question 612

Giant cell arteritis

Answer 612

Risk of ipsilateral blindness due to occlusion of ophthalmic artery; polymyalgia rheumatica

Question 613

Recurrent inflammation/thrombosis of medium-vessels in extremities

Answer 613

Buerger disease (strongly associated with tobacco smoking, Raynaud phenomenon)

Question 614

Benign vascular tumor of infancy

Answer 614

Strawberry hemangioma (grows rapidly and regresses spontaneously by 5–8 years of age)

Question 615

Herald patch (Christmas tree distribution)

Answer 615

Pityriasis rosea

Question 616

Actinic keratosis

Answer 616

Precursor to squamous cell carcinoma

Question 617

Cerebellar tonsillar herniation

Answer 617

Chiari I malformation (associated with spinal cord cavitations [e.g., syringomyelia])

Question 618

Bilateral mamillary body lesions with thiamine deficiency

Answer 618

Wernicke-Korsakoff syndrome (with bilateral lesions)

Question 619

Epidural hematoma

Answer 619

Rupture of middle meningeal artery (trauma; lentiform shaped)

Question 620

Subdural hematoma

Answer 620

Rupture of bridging veins (crescent shaped)

Question 621

Dementia

Answer 621

Alzheimer disease, vascular dementia (multiple infarcts)

Question 622

Demyelinating disease in young women

Answer 622

Multiple sclerosis

Question 623

Brain tumor (adults)

Answer 623

Metastasis, glioblastoma (malignant), meningioma, hemangioblastoma

Question 624

Galactorrhea, amenorrhea

Answer 624

Prolactinoma

Question 625

Brain tumor (children)

Answer 625

Infratentorial: medulloblastoma (cerebellum) or supratentorial: craniopharyngioma

Question 626

Combined (UMN and LMN) motor neuron degeneration

Answer 626

Amyotrophic lateral sclerosis

Question 627

Degeneration of dorsal column fibers

Answer 627

Tabes dorsalis (3° syphilis), subacute combined degeneration (dorsal columns, lateral corticospinal, spinocerebellar tracts affected)

Question 628

Nephrotic syndrome (children)

Answer 628

Minimal change disease

Question 629

Kidney stones (radiolucent)

Answer 629

Uric acid

Question 630

Kidney stones (radiopaque)

Answer 630

Calcium (most common), struvite (ammonium), cystine (faintly radiopaque)

Question 631

Renal malignancy (in males)

Answer 631

Renal cell carcinoma: associated with tobacco smoking and VHL (clear cell subtype); paraneoplastic syndromes (EPO, renin, PTHrP, ACTH)

Question 632

1° amenorrhea

Answer 632

Turner syndrome (45,XO or 45,XO/46,XX mosaic)

Question 633

Hypogonadotropic hypogonadism with anosmia

Answer 633

Kallmann syndrome (neuron migration failure)

Question 634

Clear cell adenocarcinoma of the vagina

Answer 634

DES exposure in utero

Question 635

Ovarian tumor (benign, bilateral)

Answer 635

Serous cystadenoma

Question 636

HLA-B27 associations

Answer 636

Psoriatic arthritis, ankylosing spondylitis, IBD-associated arthritis, reactive arthritis

Question 637

Most common causes of death in SLE

Answer 637

Renal disease, infections, cardiovascular disease (accelerated CAD)

Question 638

Giant cell arteritis complications

Answer 638

Risk of ipsilateral blindness due to occlusion of ophthalmic artery; polymyalgia rheumatica

Question 639

Buerger disease associations

Answer 639

Recurrent inflammation/thrombosis of medium-vessels in extremities; strongly associated with tobacco smoking, Raynaud phenomenon

Question 640

Benign vascular tumor of infancy

Answer 640

Strawberry hemangioma ## Footnote Grows rapidly and regresses spontaneously by 5–8 years of age

Question 641

Herald patch distribution

Answer 641

Christmas tree distribution in Pityriasis rosea

Question 642

Actinic keratosis significance

Answer 642

Precursor to squamous cell carcinoma

Question 643

Chiari I malformation associations

Answer 643

Cerebellar tonsillar herniation; associated with spinal cord cavitations (e.g., syringomyelia)

Question 644

Wernicke-Korsakoff syndrome lesions

Answer 644

Bilateral mamillary body lesions with thiamine deficiency

Question 645

Epidural hematoma cause

Answer 645

Rupture of middle meningeal artery (trauma; lentiform shaped)

Question 646

Subdural hematoma cause

Answer 646

Rupture of bridging veins (crescent shaped)

Question 647

Types of dementia

Answer 647

Alzheimer disease, vascular dementia (multiple infarcts)

Question 648

Common demyelinating disease in young women

Answer 648

Multiple sclerosis

Question 649

Common brain tumors in adults

Answer 649

Metastasis, glioblastoma (malignant), meningioma, hemangioblastoma

Question 650

Prolactinoma symptoms

Answer 650

Galactorrhea, amenorrhea

Question 651

Common brain tumors in children

Answer 651

Infratentorial: medulloblastoma (cerebellum) or supratentorial: craniopharyngioma

Question 652

Combined motor neuron degeneration

Answer 652

Amyotrophic lateral sclerosis

Question 653

Degeneration of dorsal column fibers causes

Answer 653

Tabes dorsalis (3° syphilis), subacute combined degeneration (dorsal columns, lateral corticospinal, spinocerebellar tracts affected)

Question 654

Nephrotic syndrome in children

Answer 654

Minimal change disease

Question 655

Radiolucent kidney stones

Answer 655

Uric acid

Question 656

Radiopaque kidney stones

Answer 656

Calcium (most common), struvite (ammonium), cystine (faintly radiopaque)

Question 657

Renal malignancy in males

Answer 657

Renal cell carcinoma: associated with tobacco smoking and VHL (clear cell subtype); paraneoplastic syndromes (EPO, renin, PTHrP, ACTH)

Question 658

Primary amenorrhea cause

Answer 658

Turner syndrome (45,XO or 45,XO/46,XX mosaic)

Question 659

Hypogonadotropic hypogonadism with anosmia

Answer 659

Kallmann syndrome (neuron migration failure)

Question 660

Clear cell adenocarcinoma of the vagina cause

Answer 660

DES exposure in utero

Question 661

Benign ovarian tumor

Answer 661

Serous cystadenoma

Question 662

Malignant ovarian tumor

Answer 662

Serous carcinoma

Question 663

Benign tumor of myometrium

Answer 663

Leiomyoma (estrogen dependent, not precancerous)

Question 664

Most common gynecologic malignancy

Answer 664

Endometrial carcinoma (most common in resource-rich countries); cervical cancer (most common worldwide)

Question 665

Common breast mass in premenopausal females

Answer 665

Fibrocystic change; carcinoma (in postmenopausal females)

Question 666

Benign breast tumor in young women

Answer 666

Fibroadenoma

Question 667

Most common breast cancer type

Answer 667

Invasive ductal carcinoma

Question 668

Common testicular tumor

Answer 668

Seminoma (malignant, radiosensitive), q PLAP

Question 669

Bladder outlet obstruction in men

Answer 669

BPH

Question 670

Components of Virchow triad

Answer 670

Hypercoagulability, endothelial damage, blood stasis (q risk of thrombosis)

Question 671

Causes of pulmonary hypertension

Answer 671

Idiopathic, left heart disease, lung diseases/hypoxia, chronic thromboembolism, multifactorial

Question 672

SIADH association

Answer 672

Small cell carcinoma of the lung