Important Associations Flashcards Preview

Amy's Step 1 Review > Important Associations > Flashcards

Flashcards in Important Associations Deck (696):
1

Congo Red w/apple-green birefringence under polarized light

Amyloid deposition

2

X-Ray "Bird Beak" Sign

  • Achalasia
  • LES doesn't relax → food buildup → massive esophageal dilatation

3

X-Ray "Ground Glass" appearance of lung

  • Neonatal Respiratory Distress Syndrome
  • Collapsed air sacs → granular appearance of lung

4

Hyaline membranes in alveoli

  • Acute Respiratory Distress Syndrome
  • Leakage of protein-rich fluid → edema + necrotic epithelial cells → hyaline membranes
  • Also see diffuse alveolar damage from neutrophil protease and free radical damage to Type I and Type II pneumocytes

5

Ferruginous bodies

  • Asbestosis
  • Prussian blue stain

6

Prussian blue stain shows long fibers in lung

  • Asbestosis
  • Iron-containing Asbestos / Ferruginous bodies

7

Prussian Blue Stain

  • Detects Iron
  • Positive = dark blue/purple

8

Honeycomb Lung

Fibrotic / Restrictive Lung Diseases

9

Increased AP chest diameter on Xray

Emphysema

10

Charcot-Leyden Crystals

  • Asthma
  • Eosinophil-derived crystals

11

Curschmann Spirals

  • Asthma
  • Spiral-shaped mucus plugs

12

Positive Acid-Fast stain of lung lesion

  • TB
  • Atypical pneumonia (Mycobacteria)
  • Nocardia

13

Acid-Fast Stain

  • aka Zeel-Niehlsen Stain
  • Carbolfuschin
  • Cell wall w/mycolic acid + lots of lipids holds onto stain and makes organisms appear pink on blue background
  • Used for bacteria w/o cell wall or that don't Gram stain well

14

Ghon complex

TB

15

Scattered patchy consolidation around bronchioles in lung on Xray

Bronchopneumonia

16

Diffuse interstitial infiltrates in lung on Xray

Interstitial/Atypical Pneumonia

17

Nasal Polyps

  • Kids: assoc w/CF
  • Adults: Aspirin-intolerant asthma triad
    • asthma
    • aspirin-induced bronchospasms
    • nasal polyps

18

"Steeple Sign" on CXR

  • Parainfluenza/Croup (Paramyxovirus)
  • Upper airway inflammation

19

Asteroid Body

  • Sarcoidosis
  • Stellate inclusions in giant cells of noncaseating granulomas

20

Red Hepatization

  • Lobar pneumonia
  • Phase 2: exudate + neutrophils + hemorrhage in alveolar spaces

21

Gray Hepatization

  • Lobar pneumonia
  • Phase 3: degradation of red cells w/i exudate

22

Roth Spots

  • Bacterial Endocarditis
  • Round white spots on retina surrounded by hemorrhage
  • Embolization of septic vegetations

23

Janeway lesions

  • Bacterial Endocarditis
  • Erythematous nontender lesions on palms/soles
  • Embolization of septic vegetations

24

Osler Nodes

  • Bacterial Endocarditis
  • Painful lesions on fingers/toes
  • Immune complex deposition in skin

25

Splinter hemorrhages in nail beds

  • Bacterial endocarditis

26

"Fish-Mouth" valve

  • Chronic rheumatic heart disease
  • Mitral Scarring → chordae tendonae thickening → stenosis
  • Aortic Scarring → fusion of valve commissures → stenosis (less common)

27

Aschoff bodies

  • Acute Rheumatic Fever
  • Foci of chronic inflammation w/Anitschkow cells, giant cells, and fibrinoid material

28

Anitschkow Cells

  • Acute Rheumatic Fever
  • Reactive histiocytes w/slender, wavy nuclei in Aschoff bodies

29

4 carcinomas that spread hematogenously (vs via LN)

  1. Renal Cell Carcinoma
  2. Hepatocellular Carcinoma
  3. Choriocarcinoma
  4. Thyroid Follicular Carcinoma

30

HLA-DR5

Hashimoto Thyroiditis

31

Hurthle Cells

Eosinophilic metaplasia of cells lining thyroid follicles

  • Hashimoto Thyroiditis

32

Psammoma bodies

Concentric layers of dystrophic calcification

  • Thyroid Papillary Carcinoma
  • Meningioma
  • Endometrial / Ovarian Serous Papillary Carcinoma
  • Mesothelioma

33

Tender thyroid

Subacute granulomatous (de Quervain) thyroiditis

34

"Hard as wood" thyroid

Riedel Fibrosing Thyroiditis

35

Antithyroglobulin Ab's

Hashimoto Thyroiditis

36

Antithyroid Peroxidase Ab's

Hashimoto Thyroiditis

37

Orphan Annie Eye nuclei

Thyroid Papillary Carcinoma

38

RET mutation

Oncogene → Increased tyrosine kinase activity

  • MEN 2A & 2B
  • Thyroid Medullary Carcinoma

39

IgG Anti-TSH Receptor Ab's

Graves' Disease

40

RAS mutation

Altered GTP-binding protein function

  • Thyroid Follicular Carcinoma
  • Other Carcinomas, Lymphoma, Melanoma

41

BRAF mutation

Oncogene → increased serine/threonine kinase activity

  • Melanoma
  • Non-Hodgkin Lymphoma
  • Thyroid Papillary Carcinoma

42

Ionizing radiation exposure

Generates hydroxyl free radicals

  • Thyroid Papillary Carcinoma
  • AML
  • CML

43

ALK mutations

Oncogene → increased receptor tyrosine kinase activity

  • Lung adenocarcinoma

44

BCR-ABL mutation

Oncogene → increased tyrosine kinase activity

  • CML
  • ALL

45

Bcl2 mutation

Oncogene → increased anti-apoptotic activity

  • Follicular Lymphoma
  • Diffuse Large B-cell Lymphoma

(Note: Bcl = B Cell Lymphoma)

46

c-KIT mutation

Oncogene → increased cytokine receptor activity

  • Gastrointestinal Stromal Tumor (GIST)

47

c-MYC mutation

Oncogene → increased transcription factor activity

  • Burkitt Lymphoma

48

HER2/neu (c-erbB2) mutation

Oncogene → increased tyrosine kinase activity

  • Breast carcinoma
  • Gastric carcinoma

49

JAK2 mutation

Oncogene → increased tyrosine kinase activity

  • Chronic Myeloproliferative Disorders

50

KRAS mutation

Oncogene → increased GTPase activity

  • Colon cancer
  • Lung cancer
  • Pancreatic cancer

51

MYCL1 mutation

Oncogene → increased transcription factor activity

  • Lung tumors

52

MYCN mutation

Oncogene → increased transcription factor activity

  • Neuroblastoma

53

APC mutation

Tumor suppressor

  • Colon cancer, especially FAP

54

BRCA1 / BRCA2 mutation

Tumor suppressor → loss of DNA repair protein

  • Breast cancer
  • Ovarian cancer

55

CDKN2A mutation

Tumor suppressor → loss of p16 (blocks G1 → S phase)

  • Melanoma
  • Pancreatic cancer

56

DCC mutation

Tumor suppressor

  • Colon cancer

57

DPC mutation

Tumor suppressor

  • Pancreatic cancer

58

MEN1 mutation

Tumor suppressor → loss of menin

  • MEN 1

59

NF1 mutation

Tumor suppressor → loss of neurofibromin (Ras GTPase-activating protein)

  • Neurofibromatosis Type 1

60

NF2 mutation

Tumor suppressor → loss of Merlin (schwannomin) protein

  • Neurofibromatosis Type 2

61

PTEN mutation

Tumor suppressor

  • Breast cancer
  • Endometrial cancer
  • Prostate cancer

62

Rb mutation

Tumor suppressor → loss of inhibition of E2F (blocks G1 → S phase)

  • Retinoblastoma
  • Osteosarcoma

63

TP53 mutation

Tumor suppressor → loss of p53 (activates p21, blocks G1 → S phase)

  • Li-Fraumeni Syndrome
  • Most cancers

64

TSC1 mutation

Tumor suppressor → loss of Hamartin protein

  • Tuberous Sclerosis

65

TSC2 mutation

Tumor suppressor → loss of Tuberin protein

  • Tuberous Sclerosis

66

VHL mutation

Tumor suppressor on chromosome 3 → loss of inhibition of hypoxia inducible factor 1a

  • Von Hippel-Lindau Disease
  • Renal Cell Carcinoma

67

WT1 mutation

Tumor suppressor, chromosome 11

  • Denys-Drash

68

WT1 deletion

Tumor suppressor, chromosome 11

  • WAGR Syndrome

69

WT2 mutation

Tumor suppressor, chromosome 11

  • Beckwith-Wiedemann

70

PKHD1 mutation

Loss of fibrocystin

  • AR Polycystic Kidney Disease

71

APKD1/2 mutation

Loss of polycystin

  • AD Polycystic Kidney Disease

72

Ab's to alpha-3 chain of Type IV Collagen

Goodpasture Syndrome

73

X-linked defect in Type IV Collagen

Alport Syndrome

74

Most common cause of death in SLE

Diffuse Proliferative Glomerulonephritis

75

Anti-GBM Ab's

Goodpasture Syndrome

76

c-ANCA / PR3-ANCA

Wegener's Granulomatosis

77

RBC Casts in urine

  • Nephritic syndromes
  • Malignant HTN

78

WBC Casts in urine

  • Tubulointerstitial inflammation
  • Acute pyelonephritis
  • Transplant rejection

79

Fatty Casts in urine

  • Nephrotic syndromes

80

Granular / Muddy-Brown Casts in urine

  • Acute Tubular Necrosis

81

Waxy Casts in urine

  • End-stage renal disease
  • Chronic renal failure

82

Hyaline Casts in urine

  • Nonspecific -- can be normal
  • Often seen in concentrated urine samples

83

AR defect in PCT amino acid transporter

  • Poor reabsorption of Cystine, Ornithine, Lysine, Arginine
  • Cystine kidney stones

84

Sodium Cyanide Nitroprusside Test

Tests for AR defect in PCT amino acid transporter (cystine stones)

85

Cancer associated with EBV

  • Burkitt Lymphoma
  • Hodgkin Lymphoma
  • Nasopharyngeal Carcinoma
  • 1° CNS Lymphoma (in IC pts)

86

Cancer associated with HBV / HCV

  • Hepatocellular Carcinoma
  • Lymphoma

87

Cancer associated with HHV-8

Kaposi Sarcoma

88

Cancer associated with HPV

  • Cervical, Penile, Anal Carcinoma (16, 18, 31, 33)
  • Head and neck cancers

89

Cancer associated with H pylori

  • Gastric Adenocarcinoma
  • MALT Lymphoma

90

Cancer associated with HTLV-1

Adult T-cell leukemia / lymphoma

91

Cancer associated with Clonorchis sinensis

Cholangiocarcinoma

92

Cancer associated with Schistosoma haematobium

Squamous Cell Bladder Cancer

93

Aspergillus-associated cancer

Hepatocellular Carcinoma (aflatoxin)

94

Alkylating Agents

Leukemia / Lymphoma

95

Aromatic amines (benzidine, 2-naphthylamine)

Transitional Cell / Urothelial Carcinoma

96

Arsenic

  • Liver Angiosarcoma
  • Lung cancer
  • Squamous Cell Carcinoma of Skin

97

Asbestos

Bronchogenic carcinoma > mesothelioma

98

Carbon Tetrachloride (CCl4)

Centrilobular necrosis and fatty change in liver

99

Cigarette Smoke

  • Oropharyngeal Carcinoma
  • Esophageal (Adeno)Carcinoma
  • Lung Carcinoma (Squamous and Small Cell)
  • Renal Cell Carcinoma
  • Bladder (Urothelial) Carcinoma
  • Pancreatic Adenocarcinoma
  • Cervical Carcinoma

100

EtOH-associated cancer

  • Esophageal Squamous Cell Carcinoma
  • Hepatocellular Carcinoma

101

Nitrosamines (Smoked Foods)

Gastric Cancer

102

Radon

Lung cancer (2nd leading cause after cigarettes)

103

Naphthylamine

Urothelial Carcinoma

104

Vinyl Chloride

Liver Angiosarcoma

105

Nickel, Chromium, Beryllium, Silica

Lung Carcinoma

106

Non-Ionizing radiation exposure

Forms pyrimidine dimers, which are normally excised by restriction endonuclease

  • Basal Cell Carcinoma of Skin
  • Squamous Cell Carcinoma of Skin
  • Melanoma

 

107

N-MYC mutation

Oncogene → increased transcription factor activity

  • Neuroblastoma

108

L-MYC mutation

Oncogene → increased transcription factor activity

  • Small Cell Lung Carcinoma

109

PDGFB mutation

Increased growth factor activity

  • Astrocytoma

110

Alkaline Phosphatase (Tumor Marker)

  • Metastases to bone or liver
  • Paget disease of bone
  • Seminoma (placental ALP)

111

CCND1 mutation

Dysregulated cyclin

  • Mantle Cell Lymphoma

112

CDK4 mutation

Amplification of CDK4 → phosphorylation of Rb → release of E2F → cell cycle

  • Melanoma

113

α-fetoprotein (tumor marker)

  • Hepatocellular carcinoma
  • hepatoblastoma
  • yolk sac (endodermal sinus) tumor
  • mixed germ cell tumor

114

β-hCG (tumor marker)

Normally produced by placenta syncytiotrophoblasts

  • Hydatidiform moles
  • Choriocarcinomas (Gestational trophoblastic disease)
  • testicular cancer
  • mixed germ cell tumor.

115

CA 15-3

Breast Cancer

116

CA 27-29

Breast Cancer

117

CA-125

Ovarian Cancer

118

Calcitonin (tumor marker)

Medullary Thyroid Carcinoma

119

CEA

  • Very nonspecific but produced by ∼ 70% of colorectal and pancreatic cancers
  • Also produced by gastric, breast, and medullary thyroid carcinomas

120

PSA

Prostate Cancer

121

P-glycoprotein / MDR1

  • Classically seen in adrenal cell carcinoma
  • also expressed by other cancer cells (colon, liver)
  • Used to pump out toxins, including chemotherapeutic agents
    • one mechanism of decreased responsiveness / resistance to chemo over time

122

Keratin stains for

Epithelium

123

Vimentin stains for

Mesenchyme

124

Desmin stains for

Muscle

125

GFAP stains for

Neuroglia

126

Neurofilament stains for

Neurons

127

Thyroglobulin stains for

Thyroid Follicular Cells

128

Chromogranin stains for

Neuroendocrine cells

129

S-100 stains for

  • Melanoma
  • Schwannoma
  • Langerhans Cell Histiocytosis

130

t(8;14)

  • 8 = c-MYC
  • 14 = Heavy chain Ig
  • c-MYC (transcription factor oncogene) fusion & activation → Burkitt Lymphoma

131

t(9;22)

Philadelphia chromosome

  • CML (BCR-ABL fusion -- tyrosine kinase oncogene)
  • ALL (rarely)

132

t(11;14)

  • 11 = Cyclin D1
  • 14 = Heavy chain Ig
  • Cyclin D1 activation → Mantle cell lymphoma

133

t(14;18)

  • 14 = heavy chain Ig
  • 18 = Bcl2
  • Bcl2 activation → anti-apoptosis → Follicular Lymphoma

134

t(15;17)

APL (M3 type of AML)

135

Chromosome 14

  • Ig heavy chain genes are constitutively expressed.
  • When other genes (c-myc and BCL-2) are translocated next to this heavy chain gene region, they are overexpressed.

136

RANK-L

  • Secreted by osteoblasts and osteocytes in response to PTH
  • Receptor activator of NH-κB ligand
  • Binds RANK receptor on osteoclasts and their precursors
  • Stimulates osteoclasts to increase bone resorption and increase Ca2+

137

HLA-DR3

  • Type 1 Diabetes Mellitus
  • SLE
  • Graves' Disease
  • Hashimoto Thyroiditis
  • Addison Disease

138

HLA-DR4

  • Type 1 Diabetes Mellitus
  • Rheumatoid Arthritis
  • Addison Disease

139

HLA-A3

Hemochromatosis

140

HLA-B8

  • Addison Disease
  • Myasthenia Gravis

141

HLA-B27

  • Psoriatic Arthritis
  • Ankylosing Spondylitis
  • IBD-associated Arthritis
  • Reactive Arthritis (Reiter)

142

HLA-DQ2

Celiac Disease

143

HLA-DQ8

Celiac Disease

144

HLA-DR2

  • Multiple Sclerosis
  • Hay Fever
  • SLE
  • Goodpasture

145

HLA-DR5

  • Vit B12 deficiency → pernicious anemia
  • Hashimoto Thyroiditis

146

HLA-A/B/C

MHC I

147

HLA-DP/DQ/DR

MHC II

148

Anti-Insulin Ab's

Type 1 Diabetes Mellitus

149

Autoimmune destruction of beta cells by T-cells

Type 1 Diabetes Mellitus

150

Anti-ACh Receptor Ab's

Myasthenia Gravis

151

Anti-Cardiolipin Ab's

  • SLE
  • Antiphospholipid Syndrome

152

Lupus Anticoagulant

  • SLE
  • Antiphospholipid Syndrome

153

Anti-Centromere Ab's

Limited Scleroderma (CREST)

154

Anti-Desmoglein Ab's

Pemphigus Vulgaris

155

Anti-Desmosome Ab's

Pemphigus Vulgaris

156

Anti-dsDNA Ab's

SLE

157

Anti-Smith Ab's

SLE

158

Anti-Glutamic Acid Decarboxylase (GAD-65) Ab's

Type 1 Diabetes Mellitus

159

Anti-Hemidesmosome Ab's

Bullous pemphigoid

160

Anti-Histone Ab's

Drug-induced Lupus

161

Anti-Jo-1 Ab's

  • Polymyositis
  • Dermatomyositis

162

Anti-SRP Ab's

  • Polymyositis
  • Dermatomyositis

163

Anti-Mi-2 Ab's

  • Polymyositis
  • Dermatomyositis

164

Anti-Microsomal Ab's

Hashimoto Thyroiditis

165

Anti-Mitochondrial Ab's

1° Biliary Cirrhosis

166

Anti-Nuclear (ANA) Ab's

SLE (nonspecific)

167

Anti-Parietal Cell Ab's

Pernicious anemia

168

Anti-Phospholipase A2 Receptor Ab's

1° membranous nephropathy

169

Anti-Scl-70 Ab's

Diffuse Scleroderma

170

Anti-DNA Topoisomerase I Ab's

Diffuse Scleroderma

171

Anti-Smooth Muscle Ab's

Autoimmune hepatitis type 1

172

Anti-SSA Ab's

Sjogren Syndrome

173

Anti-SSB Ab's

Sjogren Syndrome

174

Anti-Ro Ab's

Sjogren Syndrome

175

Anti-La Ab's

Sjogren Syndrome

176

Anti-U1 RNP Ab's

Mixed connective tissue disease

177

Anti-Voltage-Gated Calcium Channel Ab's

Lambert-Eaton Syndrome

178

IgA Anti-Endomysial Ab's

Celiac Disease

179

IgA Anti-Tissue Transglutaminase (TTG) Ab's

Celiac Disease

180

p-ANCA / MPO-ANCA

  • Microscopic Polyangiitis
  • Churg-Strauss (eosinophilic granulomatosis w/polyangiitis)

181

Rheumatoid factor

IgM antibody that targets IgG Fc region

  • Rheumatoid Arthritis

182

Anti-CCP Ab's

Rheumatoid Arthritis (more specific)

183

BTK defect

XLR Bruton Agammaglobulinemia

184

22q11 deletion

DiGeorge Syndrome

185

IL-12 Receptor Deficiency

AR inheritance → decreased IFN-gamma → decreased Th1 response

186

STAT3 mutation

AD Hyper-IgE Syndrome / Job Syndrome

  • Th17 deficiency → impaired neutrophil recruitment

187

Defect in B-cell differentiation

CVID

188

Adenosine Deaminase Deficiency

AR SCID

189

Defective IL-2R Gamma Chain (Receptor)

XL SCID

190

CD40 / CD40L mutation

XLR Hyper-IgM Syndrome

191

WASP mutation

XL Wiskott-Aldrich

192

ATM gene defects

Ataxia-telangiectasia

  • Failure to repair DNA ds breaks → cell cycle arrest

193

LFA-1 Integrin Defect

Leukocyte Adhesion Deficiency

194

CD18 Defect

Leukocyte Adhesion Deficiency

195

LYST gene defect

AR Chediak-Higashi

  • Microtubule dysfunction in phagosome-lysosome fusion

196

NADPH Oxidase defect

XLR Chronic Granulomatous Disease

  • Increased risk infxn w/Catalase + org's

197

MPO deficiency

increased risk Candida infxn

198

Nitroblue tetrazolium dye reduction test

  • Colorless = positive = CGD
  • Blue = negative = poss MPO deficiency

199

Dihydrorhodamine Test

  • Flow Cytometry
  • Decreased green fluorescence = positive = CGD

200

C1 Esterase Inhibitor Deficiency

  • Unregulated activation of kallikrein → increased bradykinin → Hereditary Angioedema
  • ACE inhibitors are contraindicated

201

C3 deficiency

  • Increased risk of severe, recurrent pyogenic sinus and respiratory tract infxns
  • Increased susceptibility to Type III HS rxns

202

C5–C9 deficiencies

increased susceptibility to recurrent Neisseria bacteremia

203

DAF (GPI-anchored enzyme) Deficiency

  • Complement-mediated RBC lysis
  • Paroxysmal Nocturnal Hemoglobinuria

204

Brain regions/cells most vulnerable to hypoxia/ischemia and subsequent infarction

  • ACA/MCA/PCA boundary areas (watershed areas)
  • Purkinje cells of the cerebellum
  • pyramidal cells of the hippocampus and neocortex

205

Heart region most vulnerable to hypoxia/ischemia and subsequent infarction

Subendocardium (LV)

206

Kidney region most vulnerable to hypoxia/ischemia and subsequent infarction

  • Straight segment of proximal tubule (medulla)
  • Thick ascending limb (medulla)

207

Liver region most vulnerable to hypoxia/ischemia and subsequent infarction

Area around central vein (zone III)

208

Colon region most vulnerable to hypoxia/ischemia and subsequent infarction

  • Splenic flexure
  • Rectum

209

Defective Sialyl Lewis X

Leukocyte Adhesion Deficiency Type 2

  • defective leukocyte margination & rolling

 

210

6 Diseases w/Increased ESR

  1. Most anemias
  2. Infections
  3. Inflammation (giant cell / temporal arteritis, polymyalgia rheumatica)
  4. Cancer (metastases, multiple myeloma)
  5. Renal disease (end-stage or nephrotic syndrome)
  6. Pregnancy

211

5 Diseases w/Decreased ESR

  1. Sickle cell anemia (altered shape)
  2. Polycythemia (increased RBCs “dilute” aggregation factors)
  3. HF
  4. Microcytosis
  5. Hypofibrinogenemia

212

AL Deposition

  • 1° Amyloidosis
  • Proteins from Ig Light Chains

213

AA Deposition

  • 2° Amyloidosis
  • Fibrils made of serum Amyloid A

214

β2-microglobulin deposition

Dialysis-Related Amyloidosis

215

Transthyretin Deposition

Age-Related / Senile Systemic Amyloidosis (Cardiac)

216

β-amyloid protein deposition

Alzheimer's

217

Islet amyloid polypeptide

  • deposition of amylin in pancreatic islets
  • Type 2 Diabetes Mellitus

218

Isolated atrial amyloidosis

  • due to atrial natriuretic peptide
  • common in normal aging

219

Abdominal pain + ascites + hepatomegaly

Budd-Chiari

220

Abdominal pain + diarrhea + leukocytosis + recent antibiotic use

Clostridium difficile infxn

221

Achilles tendon xanthoma

Familial hypercholesterolemia (decreased LDL receptor signaling)

222

adrenal hemorrhage + hypotension + DIC

Waterhouse-Friederichsen (N. meningitidis)

223

Anaphylaxis following blood transfusion

IgA deficiency

224

Anterior “drawer sign”

ACL injury

225

Arachnodactyly + upward lens dislocation + aortic dissection + hyperflexible joints

Marfan Syndrome

226

Athlete with polycythemia

2° to erythropoietin injection

227

Back pain + fever + night sweats

Pott's Disease (vertebral TB)

228

Bilateral acoustic schwannomas

Neurofibromatosis type 2

229

Bilateral hilar adenopathy + uveitis

Sarcoidosis

230

Black eschar on face of pt w/diabetic ketoacidosis

Mucor or Rhizopus infxn

231

Blue sclera

Osteogenesis imperfecta (Type I Collagen defect)

232

Bluish line on gingiva

Burton line - lead poisoning

233

Bone pain + bone enlargement + arthritis

Paget disease of bone (increased osteoblastic and osteoclastic activity)

234

Bounding pulses + wide pulse pressure + diastolic murmur + head bobbing

Aortic regurgitation

235

“Butterfly” facial rash and Raynaud phenomenon in a young female

SLE

236

Cafe-au-lait spots + Lisch nodules (iris hamartoma) + cutaneous neurofibromas + pheochromocytomas + optic gliomas

Neurofibromatosis type I

237

Cafe-au-lait spots (unilateral) + polyostotic fibrous dysplasia + precocious puberty + multiple endocrine abnormalities

McCune-Albright syndrome (mosaic G-protein signaling mutation)

238

Calf pseudohypertrophy

Muscular dystrophy (most commonly Duchenne)

239

Cervical lymphadenopathy + desquamating rash + coronary aneurysms + red conjunctivae and tongue + hand-foot changes

Kawasaki Disease

240

“Cherry-red spots” on macula

  • Tay-Sachs
  • Niemann-Pick
  • Central Retinal Artery Occlusion

241

Chest pain on exertion

Angina

  • stable: with moderate exertion
  • unstable: with minimal exertion or at rest

242

Chest pain + pericardial effusion/friction rub + persistent fever several weeks after MI

Dressler syndrome

243

Chest pain with ST depressions on EKG

  • Unstable angina: ⊝ troponins
  • NSTEMI: ⊕ troponins

244

Child uses arms to stand up from squat

Duchenne muscular dystrophy (Gowers sign)

245

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

Erythema infectiosum / fifth disease / Parvo B19

246

"Slapped cheeks" rash

Erythema infectiosum / fifth disease / Parvo B19

247

Chorea + dementia + caudate degeneration

Huntington disease

248

CAG repeat

Huntington disease

249

Chorioretinitis + hydrocephalus + intracranial calcifications

Congenital toxoplasmosis

250

Chronic exercise intolerance w/myalgia + fatigue + painful cramps + myoglobinuria

McArdle Disease

251

Cold intolerance

HypOthyroidism

252

Conjugate horizontal gaze palsy + horizontal diplopia

Internuclear ophthalmoplegia (MLF damage)

253

Continuous “machine-like” heart murmur

PDA

254

Cutaneous/dermal edema due to connective tissue deposition

Myxedema (HypOthyroidism, Graves')

255

Cutaneous flushing + diarrhea + bronchospasm + right-sided valvular heart disease + increased urinary 5-HIAA

Carcinoid syndrome

256

Dark purple skin/mouth nodules in a patient with AIDS

Kaposi Sarcoma / HHV-8

257

Deep, labored breathing / hyperventilation

Diabetic ketoacidosis (Kussmaul respirations)

258

Dermatitis + dementia + diarrhea

Pellagra: Niacin / Vit B3 deficiency

259

Dilated cardiomyopathy + edema + alcoholism or malnutrition

Wet Beriberi: Thiamine / Vit B1 deficiency

260

Dog or cat bite resulting in infection

Pasteurella

261

Dry eyes + dry mouth + arthritis

Sjogren Syndrome

262

Dysphagia / esophageal webs + glossitis + iron deficiency anemia

Plummer-Vinson

263

Elastic skin + joint hypermobility + increased bleeding tendency

Ehlers-Danlos

  • Regular: Type V Collagen defect
  • Vascular: Type III Collagen defect

264

Enlarged, hard left supraclavicular node

Virchow node: abdominal metastasis

265

Episodic vertigo + tinnitus + hearing loss

Meniere Disease

266

Erythroderma + lymphadenopathy + hepatosplenomegaly

  • Mycosis fungoides (cutaneous T-cell lymphoma)
  • Sezary Syndrome (mycosis fungoides + malignant T cells in blood)

267

Facial muscle spasm upon tapping

Chvostek Sign: HypOcalcemia

268

Fat, female, forty, and fertile

Cholelithiasis

269

Fever + chills + headache + myalgia following antibiotics for syphilis

Jarisch-Herxheimer reaction (rapid spirochete lysis → endotoxin release)

270

Fever + cough + conjunctivitis + coryza + diffuse rash

Measles / Rubeola

271

Fever + night sweats + weight loss

Lymphoma B symptoms (staging)

272

Fibrous plaques in penis soft tissue w/abnormal curvature

Peyronie Disease

273

Golden brown rings around peripheral cornea

Wilson Disease (Kayser-Fleischer rings)

274

Gout + intellectual disability + self-mutilating behavior in a boy

Lesch-Nyhan Syndrome

275

HGPRT deficiency

XLR Lesch-Nyhan Syndrome

276

Hamartomatous GI polyps + hyperpigmentation of mouth/feet/hands/genitalia

Peutz-Jeghers syndrome

277

Hepatosplenomegaly + pancytopenia + osteoporosis + aseptic necrosis of femoral head + bone crises

Gaucher disease

278

Glucocerebrosidase / β-glucosidase deficiency

AR Gaucher disease

279

α-galactosidase A deficiency

XLR Fabry Disease

280

Accumulation of ceramide

XLR Fabry Disease

281

Accumulation of Glucocerebroside

AR Gaucher disease

282

Sphingomyelinase deficiency

AR Niemann-Pick

283

Accumulation of Sphingomyelin

AR Niemann-Pick

284

Hexosaminidase A deficiency

AR Tay-Sachs

285

Accumulation of GM2 Ganglioside

AR Tay-Sachs

286

Galactocerebrosidase deficiency

AR Krabbe disease

287

Accumulation of Galactocerebroside

AR Krabbe disease

288

Accumulation of Psychosine

AR Krabbe disease

289

Accumulation of Trihexoside

XLR Fabry disease

290

Arylsulfatase A deficiency

AR Metachromatic Leukodystrophy

291

Accumulation of Cerebroside Sulfate

AR Metachromatic Leukodystrophy

292

α-L-iduronidase deficiency

AR Hurler Syndrome

293

Accumulation of Heparan Sulfate

  • AR Hurler Syndrome
  • XLR Hunter Syndrome

294

Accumulation of Dermatan Sulfate

  • AR Hurler Syndrome
  • XLR Hunter Syndrome

295

Iduronate sulfatase deficiency

XLR Hunter Syndrome

296

Glucose-6-phosphatase deficiency

Von Gierke disease (Type I GSD)

297

Periodic Acid–Schiff (PAS) stain

  • ID's glycogen and mucopolysaccharides
  • Positive = dark pink/magenta blobs
  • Helpful for:
    • Glycogen storage diseases
    • Whipple disease
    • α1AT deficiency
    • Membranoproliferative Glomerulonephritis

298

Lysosomal α-1,4-glucosidase deficiency w/α-1,6-glucosidase activity (acid maltase)

Pompe disease (Type II GSD)

299

Debranching enzyme / α-1,6-glucosidase deficiency

Cori disease (Type III GSD)

300

Skeletal muscle glycogen phosphorylase / Myophosphorylase deficiency

McArdle disease (Type V GSD)

301

Hereditary nephritis + sensorineural hearing loss + cataracts

XLD Alport Syndrome

302

Hyperphagia + hypersexuality + hyperorality + hyperdocility

Kluver-Bucy Syndrome

303

Hyperreflexia + hypertonia + Babinski sign present

UMN lesion

304

Hyporeflexia + hypotonia + atrophy + fasciculations

LMN lesion

305

Hypoxemia + polycythemia + hypercapnia

Chronic Bronchitis

306

Indurated, ulcerated genital lesion

  • Painful w/exudate: Chancroid (H. ducreyi)
  • Non-painful: Syphilis (T. pallidum)

307

Infant with cleft lip/palate + microcephaly or holoprosencephaly + polydactyly + cutis aplasia

Patau Syndrome / Trisomy 13

308

Infant with hypoglycemia + hepatomegaly

  • Cori disease
  • Von Gierke disease

309

Infant with microcephaly + rocker-bottom feet + clenched hands + structural heart defect

Edwards Syndrome / Trisomy 18

310

Jaundice + palpable, distended, non-tender gallbladder

Courvoisier sign: distal malignant biliary tree obstruction

311

Large rash with bull’s-eye appearance

Erythema chronicum migrans from Ixodes tick bite → Lyme disease (Borrelia)

312

Lucid interval after traumatic brain injury

Epidural hematoma / middle meningeal artery rupture

313

Male child + recurrent infections + no mature B cells

XLR Bruton Agammaglobulinemia

314

Mucosal bleeding + prolonged bleeding time

Glanzmann Thrombasthenia (lack of GpIIb/IIIa → defect in platelet aggregation)

315

Muffled heart sounds + distended neck veins + hypOtension

Beck triad of cardiac tamponade

316

Multiple colon polyps + osteomas/soft tissue tumors + impacted/ supernumerary teeth

Gardner Syndrone

317

Myopathy (infantile hypertrophic cardiomyopathy) + exercise intolerance

Pompe disease

318

Neonate with arm paralysis following difficult birth

Erb-Duchenne Palsy

  • superior trunk [C5–C6] brachial plexus injury
  • “waiter’s tip”

319

No lactation postpartum + absent menstruation + pubic hair loss + cold intolerance

Sheehan Syndrome / Pituitary Infarct

320

Nystagmus + intention tremor + scanning speech + bilateral internuclear ophthalmoplegia

Multiple Sclerosis

321

Painful, blue fingers/toes + hemolytic anemia

Cold agglutinin disease:

  • Mycoplasma
  • Infectious mononucleosis
  • CLL

322

Painful fingers/toes changing color from blue to white to red w/cold or stress

Raynaud phenomenon (vasospasm)

323

Painful, raised, red lesions on pads of fingers/toes

Osler nodes

  • Infective endocarditis
  • Immune complex deposition

324

Painless erythematous lesions on palms and soles

Janeway lesions

  • Infective endocarditis
  • Septic emboli
  • Septic microabscesses

325

Painless jaundice

Cancer of pancreatic head obstructing bile duct

326

Palpable purpura on buttocks/legs + joint pain + abdominal pain + hematuria

Henoch-Schonlein Purpura (IgA vasculitis)

327

Pancreatic + pituitary + parathyroid tumors

AD MEN 1

328

Periorbital and/or peripheral edema + massive proteinuria (> 3.5g/day) + hypoalbuminemia + hypercholesterolemia

Nephrotic syndrome

329

Pink complexion + dyspnea + hyperventilation

Emphysema

  • Smoking: centriacinar
  • α1AT deficiency: panacinar

330

α1AT deficiency (emphysema)

Panacinar Emphysema

331

Smoking (emphysema)

Centriacinar Emphysema

332

Polyuria + renal tubular acidosis type II + growth failure + electrolyte imbalances + hypophosphatemic rickets

Fanconi syndrome (multiple combined PCT dysfunction)

333

Pruritic + purple + polygonal + planar papules and plaques

Lichen Planus

334

Ptosis + miosis + anhidrosis

Horner Syndrome / Sympathetic Chain Lesion

335

Pupil accommodates but doesn’t react

Argyll-Robertson Pupil: Neurosyphilis

336

Rapidly progressive, ascending limb weakness following GI / upper respiratory infxn

Guillain-Barre syndrome (acute inflammatory demyelinating polyradiculopathy)

337

Rash on palms and soles

  • Coxsackie A
  • 2° Syphilis
  • Rocky Mountain Spotted Fever (Rickettsia)

338

Recurrent cold (noninflamed) abscesses + unusual eczema + high serum IgE

Hyper-IgE syndrome  / Job syndrome (neutrophil chemotaxis abnormality)

339

Red “currant jelly” sputum in alcoholic or diabetic pt

Klebsiella

340

Red “currant jelly” stools

  • Kids: Intussusception
  • Adults: Acute mesenteric ischemia

341

Red, itchy, swollen rash of nipple/areola

Paget disease of breast

342

Red urine in the morning + fragile RBCs

Paroxysmal nocturnal hemoglobinuria

343

Renal cell carcinoma (bilateral) + hemangioblastomas + angiomatosis + pheochromocytoma

Von Hippel-Lindau disease

344

Resting tremor + rigidity + akinesia + postural instability + shuffling gait

Parkinson disease

345

loss of dopaminergic neurons in substantia nigra pars compacta

Parkinson disease

346

Retinal hemorrhages with pale centers

Roth Spots

  • bacterial endocarditis

347

Severe jaundice in neonate

Crigler-Najjar Syndrome

348

Severe RLQ pain with palpation of LLQ

Rosving sign → acute appendicitis

349

Severe RLQ pain with deep tenderness

McBurney Sign → acute appendicitis

350

Short stature + cafe au lait spots + thumb/radial defects + increased incidence of tumors/leukemia + aplastic anemia

Fanconi anemia

351

genetic loss of DNA crosslink repair

  • Fanconi anemia
  • Ataxia telangiectasia

352

Single palmar crease

Down Syndrome / Trisomy 21

353

Situs inversus + chronic sinusitis + bronchiectasis + infertility

Kartagener Syndrome

354

Dynein arm defect

Kartagener Syndrome

355

Skin hypERpigmentation + hypOtension + fatigue

1° adrenocortical insufficiency

356

Slow, progressive muscle weakness in boys

Becker muscular dystrophy

357

X-linked missense mutation in dystrophin

Becker muscular dystrophy

358

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

Koplik Spots → Measles / Rubeola

359

Smooth, moist, painless, wart-like white lesions on genitals

Condyloma Lata

360

Splinter hemorrhages in fingernails

Bacterial Endocarditis

361

“Strawberry tongue”

  • Scarlet Fever
  • Kawasaki Disease

362

Streak ovaries + congenital heart disease + horseshoe kidney + cystic hygroma at birth + short stature + webbed neck + lymphedema

Turner Syndrome

363

Sudden swollen/painful big toe joint + tophi

Gout / Podagra / Hyperuricemia

364

Swollen gums + mucosal bleeding + poor wound healing + petechiae

Scurvy / Vit C deficiency

365

Swollen, hard, painful finger joints

Osteoarthritis

366

Osteophytes on PIP

Bouchard Nodes → Osteoarthritis

367

Osteophytes on DIP

Heberden Nodes → Osteoarthritis

368

Systolic ejection murmur (crescendo-decrescendo)

Aortic Stenosis

369

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

Osler-Weber-Rendu Syndrome

370

Thyroid and parathyroid tumors + pheochromocytoma

MEN 2A

371

Thyroid tumors + pheochromocytoma + ganglioneuromatosis

MEN 2B

372

Toe extension/fanning upon plantar scrape

Babinski sign → UMN lesion

373

Unilateral facial drooping involving forehead

LMN facial nerve (CNVII) palsy

374

Unilateral facial drooping sparing forehead

UMN lesion

375

Urethritis + conjunctivitis + arthritis in a male

HLA-B27-associated Reactive Arthritis

376

Vascular birthmark (port-wine stain) of the face

Benign Nevus Flammeus (assoc w/Sturge-Weber Syndrome)

377

Vomiting blood following gastroesophageal lacerations

Mallory-Weiss Syndrome

378

Longitudinal esophageal tears

Mallory-Weiss Syndrome

379

Weight loss + diarrhea + arthritis + fever + adenopathy

Whipple disease

380

Increased AFP in amniotic fluid/maternal serum

  • Dating error
  • Anencephaly
  • Spina bifida (neural tube defects)

381

Anti-IgG Ab's

Rheumatoid Arthritis

382

Anti-Platelet Ab's

Idiopathic thrombocytopenic purpura

383

“Apple core” lesion on barium enema x-ray

Colorectal cancer (usually left-sided)

384

Azurophilic, peroxidase ⊕ granular inclusions in granulocytes and myeloblasts

Auer rods → AML, esp promyelocytic / M3 type

385

“Bamboo spine” on x-ray

Ankylosing spondylitis

386

Basophilic nuclear remnants in RBCs

Howell-Jolly Bodies

  • Splenectomy
  • Nonfunctional spleen

387

Basophilic stippling of RBCs

  • Lead poisoning
  • Sideroblastic anemia

388

Bloody or yellow tap on lumbar puncture

Subarachnoid hemorrhage

389

“Boot-shaped” heart on x-ray

Tetralogy of Fallot (due to RVH)

390

Bronchogenic apical lung tumor on imaging

Pancoast tumor

391

“Brown” tumor of bone

  • HypERparathyroidism
  • Osteitis fibrosa cystica

392

Cardiomegaly with apical atrophy

Chagas disease (T. cruzi)

393

Cellular crescents in Bowman capsule

RPGN

394

“Chocolate cyst” of ovary

Endometriosis (frequently bilateral)

395

Circular grouping of dark tumor cells surrounding pale neurofibrils

Homer-Wright rosettes

  • neuroblastoma
  • medulloblastoma

396

Colonies of mucoid Pseudomonas in lungs

CF

397

fat-soluble vitamin deficiency + mucous plugs

CF

398

Decreased AFP in amniotic fluid/maternal serum

  • Down Syndrome
  • Other chromosomal abnormalities

399

Degeneration of dorsal column fibers

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

400

“Delta wave” on EKG + short PR interval + supraventricular tachycardia

Wolff-Parkinson-White syndrome (Bundle of Kent bypasses AV node)

401

Depigmentation of neurons in substantia nigra

Parkinson disease

402

Desquamated epithelium casts in sputum

Curschmann spirals → bronchial asthma

403

Disarrayed granulosa cells arranged around collections of eosinophilic fluid

Call-Exner bodies → ovarian granulosa cell tumor

404

Dysplastic squamous cervical cells with “raisinoid” nuclei and hyperchromasia

Koilocytes → HPV

405

Electrical alternans (alternating amplitude on EKG)

Pericardial tamponade

406

Enlarged cells with intranuclear inclusion bodies

“Owl eye” appearance of CMV

407

Enlarged thyroid cells w/ground-glass nuclei with central clearing

“Orphan Annie” eyes nuclei (papillary carcinoma of thyroid)

408

Eosinophilic cytoplasmic inclusion in liver cell

Mallory bodies (damaged cytokeratin filaments)

409

Eosinophilic cytoplasmic inclusion in neuron

Lewy bodies

410

Mallory Bodies

Eosinophilic cytoplasmic inclusion (damaged cytokeratin filaments) in liver cell

  • Alcoholic Liver Disease

411

Lewy Bodies

Eosinophilic cytoplasmic inclusion in neuron

  • Parkinson disease
  • Lewy Body dementia

412

Call-Exner bodies

Disarrayed granulosa cells arranged around collections of eosinophilic fluid

  • Ovarian granulosa cell tumor

413

Koilocytes

Dysplastic cells with “raisinoid” nuclei and hyperchromasia

  • HPV

414

Curschmann spirals

Desquamated epithelium casts in sputum

  • Bronchial asthma

415

Homer-Wright rosettes

Circular grouping of dark tumor cells surrounding pale neurofibrils

  • Neuroblastoma
  • Medulloblastoma

416

Howell-Jolly bodies

Basophilic nuclear remnants in RBCs

  • Splenectomy
  • Nonfunctional spleen

417

Auer rods

Azurophilic peroxidase ⊕ granular inclusions in granulocytes and myeloblasts

  • AML, esp promyelocytic (M3) type

418

Eosinophilic globule in liver

Councilman body → hepatocyte undergoing apoptosis

  • viral hepatitis
  • yellow fever

419

Councilman body

Eosinophilic globule in liver → hepatocyte undergoing apoptosis

  • viral hepatitis
  • yellow fever

420

Eosinophilic inclusion bodies in cytoplasm of hippocampal and cerebellar neurons

Negri bodies of rabies

421

Negri bodies of rabies

Eosinophilic inclusion bodies in cytoplasm of hippocampal and cerebellar neurons

422

Extracellular amyloid deposition in gray matter of brain

Senile plaques (Alzheimer disease)

423

Giant B cells with bilobed nuclei with prominent inclusions ("owl eye")

Reed-Sternberg cells → Hodgkin lymphoma

424

Reed-Sternberg Cells

Giant B cells with bilobed nuclei with prominent inclusions ("owl eye")

  • Hodgkin Lymphoma

425

Glomerulus-like structure surrounding vessel in germ cells

Schiller-Duval bodies → yolk sac tumor

426

Schiller-Duval Bodies

Glomerulus-like structure surrounding vessel in germ cells

  • Yolk Sac tumor

427

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

Marrow expansion

  • β-thalassemia
  • Sickle cell disease

428

Elevated hCG

  • Choriocarcinoma
  • Hydatidiform mole

429

 Granulomatous heart nodules

Aschoff bodies → rheumatic fever

430

Aschoff bodies

 Granulomatous heart nodules

  • rheumatic fever

431

Heterophile antibodies

Infectious mononucleosis (EBV)

432

Hexagonal, double-pointed, needle-like crystals in bronchial secretions

Charcot-Leyden crystals (eosinophilic granules) → Bronchial asthma

433

Charcot-Leyden crystals

Hexagonal, double-pointed, needle-like crystals in bronchial secretions

  • Bronchial asthma

434

High level of d-dimers

  • DIC
  • PE
  • DVT

435

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

Ghon complex

436

Ghon complex

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

437

“Honeycomb lung” on x-ray or CT

Interstitial pulmonary fibrosis

438

Hypercoagulability

Trousseau syndrome (adenocarcinoma of pancreas or lung)

439

Hypersegmented neutrophils

Megaloblastic anemia

440

HTN + hypOkalemia + metabolic alkalosis

1° hyperaldosteronism / Conn syndrome

441

Hypochromic, microcytic anemia

  • Iron deficiency anemia
  • lead poisoning
  • thalassemia (HbF sometimes present)

442

Intranuclear eosinophilic droplet-like bodies

Cowdry type A bodies → HSV or VZV

443

Cowdry type A bodies

Intranuclear eosinophilic droplet-like bodies

  • HSV
  • VZV

444

Iron-containing nodules in alveolar septum

Ferruginous bodies

445

Ferruginous bodies

Iron-containing nodules in alveolar septum

  • asbestosis → increased chance of mesothelioma

446

Keratin pearls on a skin biopsy

Squamous cell carcinoma

447

Large granules in phagocytes + immunodeficiency

Chediak-Higashi disease

448

“Lead pipe” appearance of colon on abdominal imaging

Ulcerative colitis

449

Linear appearance of IgG deposition on glomerular and alveolar basement membranes

Goodpasture syndrome

450

Low serum ceruloplasmin

Wilson disease / Hepatolenticular degeneration

451

“Lumpy bumpy” appearance of glomeruli on immunofluorescence

Poststreptococcal glomerulonephritis (due to deposition of IgG, IgM, and C3)

452

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

Multiple myeloma

453

Mammary gland (“blue domed”) cyst

Fibrocystic change of the breast

454

Monoclonal antibody spike

  • ƒMultiple myeloma (usually IgG or IgA)
  • ƒMonoclonal gammopathy of undetermined significance (MGUS consequence of aging)
  • ƒ Waldenstrom (M protein = IgM) macroglobulinemia ƒ
  • Primary amyloidosis

455

“Signet ring” cells

Mucin-filled cell with peripheral nucleus

  • gastric carcinoma

456

Mucin-filled cell with peripheral nucleus

"Signet ring" cell → gastric carcinoma

457

Narrowing of bowel lumen on barium x-ray ("string sign")

Crohn's disease

458

Necrotizing vasculitis (lungs) + necrotizing glomerulonephritis

  • Wegener's
  • Goodpasture

459

Needle-shaped, ⊝ birefringent crystals

Gout → monosodium urate crystals

460

Nodular hyaline deposits in glomeruli

Kimmelstiel-Wilson nodules → diabetic nephropathy

461

Kimmelstiel-Wilson nodules

Nodular hyaline deposits in glomeruli

  • diabetic nephropathy

462

“Nutmeg” appearance of liver

Chronic passive congestion of liver due to right heart failure or Budd-Chiari syndrome

463

“Onion skin” periosteal reaction

Ewing sarcoma (malignant small blue cell tumor)

464

Podocyte fusion / effacement on EM

Minimal change disease

465

Polished, “ivory-like” appearance of bone at cartilage erosion

Eburnation (osteoarthritis resulting in bony sclerosis)

466

Protein aggregates in neurons from hypERphosphorylation of tau protein

  • Neurofibrillary tangles → Alzheimer disease
  • Pick bodies → Pick disease

467

Pseudopalisading tumor cells on brain biopsy

Glioblastoma multiforme

468

Raised periosteum (creating a “Codman triangle”)

Aggressive bone lesion:

  • Osteosarcoma
  • Ewing sarcoma
  • Osteomyelitis

469

Rectangular, crystal-like, cytoplasmic inclusions in Leydig cells

Reinke crystals → Leydig cell tumor

470

Reinke crystals

Rectangular, crystal-like, cytoplasmic inclusions in Leydig cells

  • Leydig cell tumor

471

Thrombocytopenia + recurrent infections + eczema

Wiskott-Aldrich

472

Rhomboid crystals, ⊕ birefringent

Pseudogout → calcium pyrophosphate dihydrate crystals

473

Rib notching (inferior surface, on x-ray)

Coarctation of the aorta

474

Ring-enhancing brain lesion on CT/MRI in AIDS

  • Toxoplasma gondii
  • CNS lymphoma

475

Sheets of medium-sized lymphoid cells with scattered pale, tingible body–laden macrophages (“starry sky” histology)

Burkitt lymphoma (may be EBV-associated)

476

Silver-staining spherical aggregation of tau proteins in neurons

Pick bodies → Pick disease

477

Pick bodies

Silver-staining spherical aggregation of tau proteins in neurons

478

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

Giant cell tumor of bone (generally benign)

479

“Spikes” on basement membrane

Membranous nephropathy

480

“Dome-like” subepithelial deposits

Membranous nephropathy

481

Stacks of RBCs

Rouleaux formation (high ESR, multiple myeloma)

482

Stippled vaginal epithelial cells

“Clue cells” → Gardnerella vaginalis

483

Clue cells

Stippled vaginal epithelial cells

  • Gardnerella vaginalis

484

Streptococcus bovis bacteremia

Colon cancer

485

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

Birbeck granules → Langerhans cell histiocytosis

486

Birbeck granules

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

  • Langerhans cell histiocytosis

487

Thousands of polyps on colonoscopy

FAP

488

Thrombi made of white/red layers

Lines of Zahn (arterial thrombus, layers of platelets/RBCs)

489

“Thumb sign” on lateral neck x-ray

Epiglottitis (H. influenzae)

490

Thyroid-like appearance of kidney

Chronic pyelonephritis

491

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

Membranoproliferative glomerulonephritis

492

Triglyceride accumulation in liver cell vacuoles

Fatty liver disease (alcoholic or metabolic syndrome)

493

increased uric acid levels

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

494

WBCs that look “smudged”

CLL (almost always B cell)

495

“Wire loop” glomerular capillary appearance on LM

Diffuse proliferative glomerulonephritis (usually w/SLE)

496

Yellowish CSF

Xanthochromia (eg, due to subarachnoid hemorrhage)

497

Actinic (solar) keratosis

Precursor to squamous cell carcinoma

498

grape-like mass in vagina of child

Sarcoma Botyroides

499

Carbonic anhydrase II mutation

OsteoPETrosis

500

FGFR3 mutation

AD Achondroplasia

501

Acute gastric ulcer associated with CNS injury

Cushing ulcer

  • increased ICP stimulates vagal gastric H+ secretion

502

Acute gastric ulcer associated with severe burns

Curling ulcer

  • greatly reduced plasma volume results in sloughing of gastric mucosa

503

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

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

504

Alternating areas of transmural inflammation and normal colon

Crohn's disease (skip lesions)

505

Aortic aneurysm, abdominal

Atherosclerosis

506

Aortic aneurysm, ascending or arch

  • 3° syphilis / syphilitic aortitis
  • Vasa vasorum destruction

507

Aortic aneurysm, thoracic

Marfan syndrome (idiopathic cystic medial degeneration)

508

Anti-liver kidney microsome-1 Ab's

Autoimmune Hepatitis

509

Trousseau's sign

Migratory thrombophlebitis → pancreatic cancer

510

Michaelis-Gutmann bodies

Histiocytes with round concentric layered intracytoplasmic bodies

  • Renal malakoplakia

511

phenylalanine hydroxylase deficiency

AR PKU (Phe → Tyr)

512

galactose-1-phosphate uridyltransferase deficiency

AR Classic galactosemia

513

galactokinase deficiency

AR, mild condition, galactitol accumulates

514

fructokinase defect

AR Essential fructosuria

515

aldolase B deficiency

AR Fructose intolerance

516

Accumulation of Fructose-1-phosphate

AR Fructose intolerance (Aldolase B deficiency)

517

Glucose-6-phosphate dehydrogenase deficiency

XLR disorder w/decreased NADPH → hemolytic anemia + oxidative damage to RBCs

518

Pyruvate dehydrogenase complex deficiency

XL disorder → buildup of pyruvate that gets shunted to lactate (via LDH) and alanine (via ALT)

519

Lactase deficiency

Lactose intolerance

  • Stool: decreased/acidic pH
  • Breath: increased H+

520

N-acetylglutamate synthase deficiency

Required cofactor for carbamoyl phosphate synthetase I → hyperammonemia

  • identical to presentation of CPS I deficiency

521

carbamoyl phosphate synthetase I deficiency

hyperammonemia

  • identical presentation to N-acetylglutamate synthase deficiency

522

Ornithine transcarbamylase deficiency

XLR disorder → hyperammonemia w/NOmegaloblastic anemia

523

tetrahydrobiopterin deficiency

AR PKU (Phe → Tyr)

524

branched-chain α-ketoacid dehydrogenase deficiency

Maple syrup urine disease

  • increased α-ketoacids in the blood,

525

homogentisate oxidase deficiency

AR Alkaptonuria (Tyr → fumarate)

526

Cystathionine synthase deficiency

AR Homocystinuria

527

decreased affinity of cystathionine synthase for pyridoxal phosphate

AR Homocystinuria

528

Methionine synthase / homocysteine methyltransferase deficiency

AR Homocystinuria

529

Systemic 1° carnitine deficiency

inherited defect in transport of LCFAs into mitochondria → toxic accumulation

530

Medium-chain acyl-CoA dehydrogenase deficiency

AR disorder of FA oxidation → accumulation of 8- to 10-carbon fatty acyl carnitines in the blood + hypoketotic hypoglycemia

531

Lipoprotein lipase deficiency

Hyperchylomicronemia (Type I Familial Dyslipidemia)

532

apolipoprotein C-II deficiency

Hyperchylomicronemia (Type I Familial Dyslipidemia)

533

Absent or defective LDL receptors

Familial Hypercholesterolemia (Type IIa Familial Dyslipidemia)

534

Hepatic overproduction of VLDL

Hypertriglyceridemia (Type IV Familial Dyslipidemia)

535

Aortic dissection

HTN

536

Atrophy of the mammillary bodies

Wernicke encephalopathy (Thiamine deficiency)

537

Autosplenectomy (fibrosis and shrinkage)

Sickle cell disease (HbS)

538

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

H pylori

539

Bacterial meningitis (adults and elderly)

S pneumoniae

540

Bacterial meningitis (newborns and kids)

  • Newborns: Group B streptococcus/E coli
  • Kids/Teens: S pneumoniae/N meningitidis

541

Bilateral ovarian metastases from gastric carcinoma

Krukenberg tumor (mucin-secreting signet ring cells)

542

Bleeding disorder with GpIb deficiency

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

543

Brain tumor (adults)

Supratentorial

  • metastasis
  • astrocytoma (including glioblastoma multiforme)
  • meningioma
  • schwannoma

544

Brain tumor (kids)

  • Infratentorial: medulloblastoma (cerebellum)
  • Supratentorial: craniopharyngioma

545

Breast cancer

Invasive ductal carcinoma

546

Breast mass

  • Fibrocystic change
  • Carcinoma (in postmenopausal women)

547

Breast tumor (benign, young woman)

Fibroadenoma

548

Cardiac 1° tumor (kids)

Rhabdomyoma, often seen in tuberous sclerosis

549

Cardiac manifestation of lupus

Marantic/thrombotic endocarditis (nonbacterial)

550

Cardiac tumor (adults)

  • Metastasis
  • Myxoma (90% in left atrium; “ball and valve”)

551

Cerebellar tonsillar herniation

Chiari II malformation

552

Chronic arrhythmia

Atrial fibrillation → high risk of emboli

553

Chronic atrophic gastritis (autoimmune)

  • Predisposition to gastric carcinoma
  • can also cause pernicious anemia

554

Clear cell adenocarcinoma of vagina

DES exposure in utero

555

Congenital adrenal hyperplasia, hypotension

21-hydroxylase deficiency

556

Congenital cardiac anomaly

VSD

557

Congenital conjugated hyperbilirubinemia (black liver)

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

558

Constrictive pericarditis

  • Developing world: TB
  • Developed world: idiopathic or viral illness

559

Coronary artery involved in thrombosis

LAD > RCA > circumflex

560

Cretinism

Iodine deficit / congenital hypothyroidism

561

Cushing syndrome

  • ƒ Iatrogenic (corticosteroid therapy)
  • ƒ Adrenocortical adenoma (secretes excess cortisol)
  • ƒ ACTH-secreting pituitary adenoma (Cushing disease) ƒ
  • Paraneoplastic (ACTH secretion by tumors)

562

Early Cyanosis

R → L Shunts

  • Tetralogy of Fallot
  • Transposition of great vessels
  • Truncus arteriosus

563

Death in CML

Blast crisis

564

Death in SLE

Lupus nephropathy

565

Dementia

  • Alzheimer disease
  • Multiple infarcts (vascular dementia)

566

Demyelinating disease in young women

Multiple sclerosis

567

DIC

  • Severe sepsis
  • obstetric complications
  • cancer
  • burns
  • trauma
  • major surgery
  • acute pancreatitis
  • APL

568

Diverticulum in pharynx

Zenker diverticulum (diagnosed by barium swallow)

569

Ejection click

Aortic stenosis

570

Hypocretin / Orexin Deficiency

Narcolepsy

A image thumb
571

MECP2 gene mutations

Rett Syndrome (X-linked, but mostly occurs in girls)

572

Hepatocytes w/finely granular, dull, eosinophilic cytoplasm

Hep B infxn ("ground glass" cytoplasm)

573

Focal areas of hepatic macrovesicular steatosis + lymphoid aggregates w/i portal tracts

Hep C infxn

574

Mutations in spectrin / ankyrin

Hereditary spherocytosis

575

FMR1 mutations

Fragile X Syndrome (CGG repeats → hypermethylation)

576

CGG Repeats

Fragile X Syndrome (hypermethylation → inactivation of FMR1)

577

APP mutation

early-onset familial Alzheimer's (chrom 21)

578

Presenilin 1 mutations

early-onset familial Alzheimer's (chrom 14)

579

Presenilin 2 mutations

early-onset familial Alzheimer's (chrom 1)

580

Apolipoprotein-E4 mutations

late-onset familial Alzheimer's

581

SHOX gene loss

  • Caused by missing X chromosome (Turner)
  • Problems w/long bone growth

582

Gomori Trichrome Stain

used to ID mitochondrial myopathies (blotchy red mm fibers = positive)

583

Neurophysin mutations

AD Hereditary hypothalamic diabetes insipidus (insufficient ADH release)

584

t(11;22)

Ewing Sarcoma

585

COL1A1 / COL1A2 mutation

AD Osteogenesis Imperfecta

586

ATP7A mutations

Menkes Disease (Menkes protein)

587

Carbonic Anhydrase II mutations

OsteoPETrosis

588

anti-cyclic citrullinated peptide antibody

Rheumatoid Arthritis

589

Dystrophin deletion

Duchenne Muscular Dystrophy

590

DMPK gene mutations

AD Myotonic Type 1 Muscular Dystrophy

591

CTG repeat

AD Myotonic Type 1 Muscular Dystrophy

592

Myotonin Protein Kinase defects

AD Myotonic Type 1 Muscular Dystrophy

593

GNAS1 mutation

McCune-Albright Syndrome

594

Esophageal cancer (type)

  • Squamous cell carcinoma (worldwide)
  • Adenocarcinoma (US)

595

Food poisoning (exotoxin mediated)

  • S aureus
  • B cereus

596

Gastric cancer (type)

Adenocarcinoma

597

Calcium pyrophosphate crystals

Pseudogout

598

Monosodium Urate Crystals

Gout

599

Glucokinase gene mutations

Maturity-onset diabetes of the young

600

Most common glomerular disease in adults

Berger Disease / IgA Nephropathy

601

Most common gynecological malignancy

  • Endometrial carcinoma (US)
  • Cervical carcinoma (worldwide)

602

Most common secreting pituitary tumor

Prolactinoma

603

Most common congenital cause of heart murmur

MVP

604

Heart valve affected in bacterial endocarditis

  • Mitral > aortic (rheumatic fever)
  • Tricuspid (IV drug abuse)

605

Most common Helminth infection (US)

  • Enterobius vermicularis
  • Ascaris lumbricoides

606

Epidural hematoma cause

Rupture of middle meningeal artery (trauma; lentiform shaped)

607

Subdural hematoma cause

Rupture of bridging veins (crescent shaped)

608

Hemochromatosis cause

Multiple blood transfusions OR hereditary HFE mutation (heart failure, “bronze diabetes,” increased risk hepatocellular carcinoma)

609

Hepatocellular carcinoma

Cirrhotic liver (associated with hepatitis B and C and with alcoholism)

610

Most common hereditary bleeding disorder

von Willebrand disease

611

Hereditary harmless jaundice

Gilbert syndrome (benign congenital unconjugated hyperbilirubinemia)

612

HLA-B27 associations

  • Psoriatic arthritis
  • ankylosing spondylitis
  • IBD-associated arthritis
  • reactive arthritis (formerly Reiter syndrome)

613

HLA-DR3 associations

  • Diabetes mellitus type 1
  • SLE
  • Graves disease
  • Hashimoto thyroiditis
  • Addison disease

614

HLA-DR4 associations

  • Diabetes mellitus type 1
  • Rheumatoid arthritis
  • Addison disease

615

Holosystolic murmur

  • VSD
  • tricuspid regurgitation
  • mitral regurgitation

616

Hypercoagulability, endothelial damage, blood stasis

Virchow triad (increased risk of thrombosis)

617

Secondary HTN

  • Renal artery stenosis
  • Chronic kidney disease (PKD, diabetic nephropathy)
  • HypERaldosteronism

618

Most common cause HypOparathyroidism

Accidental excision during thyroidectomy

619

Most common cause HypOpituitarism

Pituitary adenoma (usually benign)

620

Infection 2° to blood transfusion

Hepatitis C

621

Infections in chronic granulomatous disease

Catalase ⊕

  • S aureus
  • E coli
  • Aspergillus

622

Most common cause of Intellectual disability

  • Down syndrome
  • Fragile X syndrome

623

Kidney stones opacity

  • ƒCalcium = radiOpaque
  • ƒStruvite (ammonium) = radiOpaque
    • formed by urease ⊕ orgs: Klebsiella, Proteus, S saprophyticus
  • ƒUric acid = radioLucent ƒ
  • Cystine = radioLucent

624

Late cyanotic shunt

Eisenmenger syndrome (caused by ASD, VSD, PDA; results in pulmonary hypertension/polycythemia)

625

Most common cause Liver disease

Alcoholic cirrhosis

626

Most common lysosomal storage disease

Gaucher disease

627

Most common Male cancer

Prostatic carcinoma

628

Malignancy associated with noninfectious fever

Hodgkin lymphoma

629

Most common malignancy (kids)

  • ALL
  • medulloblastoma (cerebellum)

630

Metastases to bone

Prostate / breast > lung > thyroid

631

Metastases to brain

Lung > breast > genitourinary > melanoma > GI

632

Metastases to liver

Colon >> stomach, pancreas

633

Most common cause Microcytic anemia

Iron deficiency

634

Mitochondrial inheritance

Disease occurs in both males and females, inherited through females only

635

Mitral valve stenosis

Rheumatic heart disease

636

Mixed (UMN and LMN) motor neuron disease

Amyotrophic lateral sclerosis

637

Most common cause Myocarditis

Coxsackie B

638

Most common NephrOtic syndrome in adults

Focal segmental glomerulosclerosis

639

Most common NephrOtic syndrome in kids

Minimal change disease

640

Neuron migration failure

Kallmann syndrome (hypogonadotropic hypogonadism + anosmia)

641

Nosocomial pneumonia

  • S aureus
  • Pseudomonas
  • Other enteric gram ⊝ rods

642

Obstruction of male urinary tract

BPH

643

Opening snap

Mitral stenosis

644

Most common opportunistic infection in AIDS

Pneumocystis jirovecii pneumonia

645

Most common cause Osteomyelitis

S. aureus

646

Osteomyelitis in sickle cell disease

Salmonella

647

Osteomyelitis with IV drug use

  • Pseudomonas
  • Candida
  • S aureus

648

Benign bilateral ovarian tumor

Serous cystadenoma

649

Most common malignant ovarian tumor

Serous cystadenocarcinoma

650

Most common cause acute Pancreatitis

  • Gallstones
  • alcohol

651

Most common cause chronic Pancreatitis

  • Alcohol (adults)
  • Cystic fibrosis (kids)

652

Pelvic inflammatory disease

  • C trachomatis
  • N gonorrhoeae

653

Philadelphia chromosome t(9;22) (BCR-ABL)

CML (may sometimes be associated with ALL/AML)

654

Most common Pituitary tumor

  • Prolactinoma
  • somatotropic adenoma

655

1° amenorrhea

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

656

1° bone tumor (adults)

Multiple Myeloma

657

1° hypERaldosteronism

Adenoma of adrenal cortex

658

1° hypERparathyroidism

  • Adenomas
  • hyperplasia
  • carcinoma

659

Pulmonary HTN

  • Idiopathic
  • heritable
  • left heart disease (eg, HF)
  • lung disease (eg, COPD)
  • hypoxemic vasoconstriction (eg, OSA)
  • thromboembolic (eg, PE)

660

Recurrent inflammation/thrombosis of small/medium vessels in extremities

Buerger disease (strongly associated w/tobacco)

661

Refractory peptic ulcers + high gastrin levels

Zollinger-Ellison syndrome (gastrinoma of duodenum or pancreas), assoc w/MEN1

662

Renal tumor

  • Renal cell carcinoma
    • assoc w/von Hippel-Lindau, cigarette smoking
  • paraneoplastic syndromes
    • EPO, renin, PTHrP, ACTH

663

Right heart failure due to a pulmonary cause

Cor pulmonale

664

S3 heart sound

  • increased ventricular filling pressure (eg, mitral regurgitation, HF)
  • common in dilated ventricles

665

S4 heart sound

Stiff/hypertrophic ventricle (aortic stenosis, restrictive cardiomyopathy)

666

2° hypERparathyroidism

HypOcalcemia of chronic kidney disease (caused initially by decreased PO4 excretion)

667

Most common Sexually transmitted disease

C trachomatis (usually coinfected with N gonorrhoeae)

668

Most common cause SIADH

Small cell carcinoma of the lung

669

Site of diverticula

Sigmoid colon

670

Sites of atherosclerosis

Abdominal aorta > coronary artery > popliteal artery > carotid artery

671

Temporal arteritis

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

672

Most common Testicular tumor

Seminoma (malignant, radiosensitive): increased placental ALP

673

Most common Thyroid cancer

Papillary carcinoma (childhood irradiation)

674

Most common Tumor in women

Leiomyoma (estrogen dependent, not precancerous)

675

Most common Tumor of infancy

Strawberry hemangioma (grows rapidly and regresses spontaneously by childhood)

676

Most common Tumor of the adrenal medulla (adults)

Pheochromocytoma (usually benign)

677

Most common Tumor of the adrenal medulla (kids)

Neuroblastoma (malignant)

678

Most common Type of Hodgkin lymphoma

Nodular sclerosing (vs mixed cellularity, lymphocytic predominance, lymphocytic depletion)

679

Most common Type of non-Hodgkin lymphoma

Diffuse large B-cell lymphoma

680

UTI

  • E coli
  • Staphylococcus saprophyticus (young women)

681

Vertebral compression fracture

Osteoporosis (type I: postmenopausal woman; type II: elderly man or woman)

682

Viral encephalitis affecting temporal lobe

HSV-1

683

Vitamin deficiency (US)

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

684

MHC II deficiency

Bare Lymphocyte Syndrome

685

AIRE mutation

Autoimmune Polyendocrine Synd → defect in T cell negative selection

  • hypOparathyroidism
  • adrenal failure
  • chronic Candida

686

FAS pathway mutation

Autoimmune Lymphoprolierative Synd

  • Dec apoptosis
  • cytopenias
  • hepatosplenomegaly

687

FoxP53 mutation

IPEX Synd → TREG dysfcn

  • Immune dysreg
  • Polyendocrinopathy
  • Enteropathy
  • X-linked

688

Sudan III Stain

looks for fat (i.e. malabsorptive syndromes)

689

Osmotic fragility test

Hereditary Spherocytosis

690

Acidified Serum Test

Paroxysmal Nocturnal Hemoglobinuria

691

Absent GPI anchor

Paroxysmal Nocturnal Hemoglobinuria

692

Absent DAF on RBCs

Paroxysmal Nocturnal Hemoglobinuria

693

RBCs missing CD55/59

Paroxysmal Nocturnal Hemoglobinuria

694

Coombs + Anemia

Immune Hemolytic Anemia

695

Heinz Prep

G6PD Deficiency

696

BMPR2 mutation

Pulmonary HTN