Key associations Flashcards
Mitochondrial inheritance
Disease occurs in both males and females, inherited
through females only
Intellectual disability
Down syndrome, fragile X syndrome
Vitamin deficiency (USA)
Folate (pregnant women are at high risk; body stores only 3- to 4-month supply; prevents neural tube defects)
Lysosomal storage disease
Gaucher disease
Food poisoning (exotoxin mediated)
S aureus, B cereus
Osteomyelitis
S aureus (most common overall)
Bacterial meningitis (adults and elderly)
S pneumoniae
Bacterial meningitis (newborns and kids)
Group B streptococcus/E coli/Listeria monocytogenes
newborns), S pneumoniae/N meningitidis (kids/teens
Bacteria associated with gastritis, peptic ulcer disease, and gastric malignancies (eg, adenocarcinoma, MALToma)
H pylori
Opportunistic infection in AIDS
Pneumocystis jirovecii pneumonia
Helminth infection (US)
Ascaris lumbricoides
Myocarditis
Coxsackie B
Infection 2° to blood transfusion
Hepatitis C
Osteomyelitis in sickle cell disease
Salmonella
Osteomyelitis with IV drug use
Pseudomonas, Candida, S aureus
UTI
E coli, Staphylococcus saprophyticus (young women)
Sexually transmitted disease
C trachomatis (usually coinfected with N gonorrhoeae)
Nosocomial pneumonia
S aureus, Pseudomonas, other enteric gram ⊝ rods
Pelvic inflammatory disease
C trachomatis, N gonorrhoeae
Infections in chronic granulomatous disease
S aureus, E coli, Aspergillus (catalase ⊕)
Metastases to bone
Prostate, breast > lung, thyroid, kidney
Metastases to brain
Lung > breast > prostate > melanoma > GI
Metastases to liver
Colon»_space; stomach > pancreas
S3 heart sound
increased ventricular filling pressure (eg, mitral regurgitation, HF), common in dilated ventricles
S4 heart sound
Stiff/hypertrophic ventricle (aortic stenosis, restrictive
cardiomyopathy)
Constrictive pericarditis
TB (developing world); idiopathic, viral illness (developed world)
Holosystolic murmur
VSD, tricuspid regurgitation, mitral regurgitation
Ejection click
Aortic stenosis
Mitral valve stenosis
Rheumatic heart disease
Opening snap
Mitral stenosis
Heart murmur, congenital
Mitral valve prolapse
Chronic arrhythmia
Atrial fibrillation (associated with high risk of emboli)
Cyanosis (early; less common)
Tetralogy of Fallot, transposition of great vessels, truncus arteriosus, total anomalous pulmonary venous return
Late cyanotic shunt (uncorrected left to right becomes
right to left)
Eisenmenger syndrome (caused by ASD, VSD, PDA; results in pulmonary hypertension/polycythemia)
Congenital cardiac anomaly
VSD
Hypertension, 2°
Renal artery stenosis, chronic kidney disease (eg,
polycystic kidney disease, diabetic nephropathy),
hyperaldosteronism
Aortic aneurysm, thoracic
Marfan syndrome (idiopathic cystic medial degeneration)
Aortic dissection
Hypertension
Aortic aneurysm, abdominal
Atherosclerosis, smoking is major risk factor
Aortic aneurysm, ascending or arch
3° syphilis (syphilitic aortitis), vasa vasorum destruction
Sites of atherosclerosis
Abdominal aorta > coronary artery > popliteal artery
> carotid artery
Cardiac manifestation of lupus
Marantic/thrombotic endocarditis (nonbacterial)
Heart valve affected in bacterial endocarditis
Mitral > aortic (rheumatic fever), tricuspid (IV drug
abuse)
Endocarditis presentation associated with bacterium
S aureus (acute, IVDA, tricuspid valve), viridans stretococci (subacute, dental procedure), S bovis (colon cancer), culture negative (Coxiella, Bartonella, HACEK)
Temporal arteritis
Risk of ipsilateral blindness due to occlusion of
ophthalmic artery; polymyalgia rheumatica
Recurrent inflammation/thrombosis of small/medium
vessels in extremities
Buerger disease (strongly associated with tobacco)
Cardiac 1° tumor (kids)
Rhabdomyoma, often seen in tuberous sclerosis
Cardiac tumor (adults)
Metastasis, myxoma (90% in left atrium; “ball valve”)
Congenital adrenal hyperplasia, hypotension
21-hydroxylase deficiency
Cushing syndrome
- Iatrogenic (from corticosteroid therapy)
- Adrenocortical adenoma (secretes excess cortisol)
- ACTH-secreting pituitary adenoma (Cushing disease)
- Paraneoplastic (due to ACTH secretion by tumors)
Tumor of the adrenal medulla (kids)
Neuroblastoma (malignant)
Tumor of the adrenal medulla (adults)
Pheochromocytoma (usually benign)
Cretinism
Iodine deficit/congenital hypothyroidism
HLA-DR3
Diabetes mellitus type 1, SLE, Graves disease, Hashimoto thyroiditis (also associated with HLA-DR5), Addison disease
Thyroid cancer
Papillary carcinoma (childhood irradiation)
Hypoparathyroidism
Accidental excision during thyroidectomy
1° hyperparathyroidism
Adenomas, hyperplasia, carcinoma
2° hyperparathyroidism
Hypocalcemia of chronic kidney disease
Hypopituitarism
Pituitary adenoma (usually benign tumor)
HLA-DR4
Diabetes mellitus type 1, rheumatoid arthritis, Addison
disease
Refractory peptic ulcers and high gastrin levels
Zollinger-Ellison syndrome (gastrinoma of duodenum or
pancreas), associated with MEN1
Esophageal cancer
Squamous cell carcinoma (worldwide); adenocarcinoma
US
Acute gastric ulcer associated with CNS injury
Cushing ulcer (increased intracranial pressure stimulates vagal gastric H+ secretion)
Acute gastric ulcer associated with severe burns
Curling ulcer (greatly reduced plasma volume results in sloughing of gastric mucosa)
Bilateral ovarian metastases from gastric carcinoma
Krukenberg tumor (mucin-secreting signet ring cells)
Chronic atrophic gastritis (autoimmune)
Predisposition to gastric carcinoma (can also cause
pernicious anemia)
Gastric cancer
Adenocarcinoma
Alternating areas of transmural inflammation and normal colon
Skip lesions (Crohn disease)
Diverticulum in pharynx
Zenker diverticulum (diagnosed by barium swallow)
Site of diverticula
Sigmoid colon
Hepatocellular carcinoma
Cirrhotic liver (associated with hepatitis B and C, alcoholism, and hemochromatosis)
Liver disease
Alcoholic cirrhosis
1° liver cancer
Hepatocellular carcinoma (chronic hepatitis, cirrhosis, hemochromatosis, α1-antitrypsin deficiency, Wilson disease)
Congenital conjugated hyperbilirubinemia (black liver)
Dubin-Johnson syndrome (inability of hepatocytes to
secrete conjugated bilirubin into bile)
Hereditary harmless jaundice
Gilbert syndrome (benign congenital unconjugated hyperbilirubinemia)
Hemochromatosis
Multiple blood transfusions or hereditary HFE mutation
can result in heart failure, “bronze diabetes,” and increased risk of hepatocellular carcinoma
Pancreatitis (acute)
Gallstones, alcohol
Pancreatitis (chronic)
Alcohol (adults), cystic fibrosis (kids)
Autosplenectomy (fibrosis and shrinkage)
Sickle cell disease (hemoglobin S)
Microcytic anemia
Iron deficiency
Bleeding disorder with GpIb deficiency
Bernard-Soulier syndrome (defect in platelet adhesion to von Willebrand factor)
Hereditary bleeding disorder
von Willebrand disease
DIC
Severe sepsis, obstetric complications, cancer, burns,
trauma, major surgery, acute pancreatitis, APL
Malignancy associated with noninfectious fever
Hodgkin lymphoma
Type of Hodgkin lymphoma
Nodular sclerosing (vs mixed cellularity, lymphocytic predominance, lymphocytic depletion)
t(14;18)
t(14;18) Follicular lymphomas (BCL-2 activation, anti-apoptotic oncogene)
t(8;14)
t(8;14) Burkitt lymphoma (c-myc fusion, transcription factor oncogene)
Type of non-Hodgkin lymphoma
Diffuse large B-cell lymphoma
1° bone tumor (adults)
Multiple myeloma
Age ranges for patient with ALL/CLL/AML/CML
ALL: child,
CLL: adult > 60
AML: adult ∼ 65
CML: adult 45–85
Malignancy (kids)
Leukemia, brain tumors
Death in CML
Blast crisis
t(9;22)
t(9;22) Philadelphia chromosome, CML (BCR-ABL oncogene, tyrosine kinase activation), more rarely associated with ALL
Vertebral compression fracture
Osteoporosis (type I: postmenopausal woman; type II:
elderly man or woman)
HLA-B27
Psoriatic arthritis, ankylosing spondylitis, IBD-associated
arthritis, reactive arthritis (formerly Reiter syndrome)
Death in SLE
Lupus nephropathy
Tumor of infancy
Strawberry hemangioma (grows rapidly and regresses spontaneously by childhood)
Actinic (solar) keratosis
Precursor to squamous cell carcinoma
Cerebellar tonsillar herniation
Chiari I malformation
Atrophy of the mammillary bodies
Wernicke encephalopathy (thiamine deficiency causing ataxia, ophthalmoplegia, and confusion)
Viral encephalitis affecting temporal lobe
HSV-1
Hematoma—epidural
Rupture of middle meningeal artery (trauma; lentiform
shaped)
Hematoma—subdural
Rupture of bridging veins (crescent shaped)
Dementia
Alzheimer disease, multiple infarcts (vascular dementia)
Demyelinating disease in young women
Multiple sclerosis
Brain tumor (adults)
Supratentorial: metastasis, astrocytoma (including
glioblastoma multiforme), meningioma, schwannoma
Pituitary tumor
Prolactinoma, somatotropic adenoma
Brain tumor (kids)
Infratentorial: medulloblastoma (cerebellum) or
supratentorial: craniopharyngioma
Mixed (UMN and LMN) motor neuron disease
Amyotrophic lateral sclerosis
1° hyperaldosteronism
Adrenal hyperplasia or adenoma
Nephrotic syndrome (adults)
Membranous nephropathy
Nephrotic syndrome (kids)
Minimal change disease
Glomerulonephritis (adults)
Berger disease (IgA nephropathy)
Kidney stones
- Calcium = radiopaque
- Struvite (ammonium) = radiopaque (formed by urease ⊕ organisms such as Klebsiella, Proteus species, and S saprophyticus)
- Uric acid = radiolucent
- Cystine = faintly radiopaque
Obstruction of male urinary tract
BPH
Renal tumor
Renal cell carcinoma: associated with von Hippel-Lindau
and cigarette smoking; paraneoplastic syndromes (EPO,
renin, PTHrP, ACTH)
1° amenorrhea
Turner syndrome (45,XO or 45,XO/46,XX mosaic)
Neuron migration failure
Kallmann syndrome (hypogonadotropic hypogonadism and anosmia)
Clear cell adenocarcinoma of the vagina
DES exposure in utero
Ovarian tumor (benign, bilateral)
Serous cystadenoma
Ovarian tumor (malignant)
Serous cystadenocarcinoma
Tumor in women
Leiomyoma (estrogen dependent, not precancerous)
Gynecologic malignancy
Endometrial carcinoma (most common in US); cervical carcinoma (most common worldwide)
Breast mass
Fibrocystic change, carcinoma (in postmenopausal
women)
Breast tumor (benign, young woman)
Fibroadenoma
Breast cancer
Invasive ductal carcinoma
Testicular tumor
Seminoma (malignant, radiosensitive), increased placental ALP
Right heart failure due to a pulmonary cause
Cor pulmonale
Hypercoagulability, endothelial damage, blood stasis
Virchow triad (increased risk of thrombosis)
Pulmonary hypertension
Idiopathic, heritable, left heart disease (eg, HF), lung
disease (eg, COPD), hypoxemic vasoconstriction (eg,
OSA), thromboembolic (eg, PE)
SIADH
Small cell carcinoma of the lung