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 3-4mo 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)
Newborns: Group B streptococcus/E. coli/Listeria monocytogenes
Kids/teens: S. pneumoniae/N. meningitidis
Bacteria associated with gastritis, peptic ulcer disease, and gastric malignancies (e.g. adenocarcinoma, MALToma)
H. pylori
Opportunistic infections in AIDS
Pneumocystis jirovecii pneumonia
Helminth infection (US)
Ascaris lumbricoides
Myocarditis
Coxsackie B
Infection secondary to blood transfusion
Hepatitis C
Osteomyelitis in sickle cell disease
Salmonella
Osteomyelitis with IV drug use
Pseudomonas, Candida, S. aureus
UTI
E. coli Staphylococcus saprophytic (young women)
Sexually transmitted disease
C. trachoma’s (usually co-infected with N. gonorrheae)
Nosocomial pneumonia
S. aureus, Pseudomonas, other enteric gram negative rods
Pelvic inflammatory disease
C trahcomatis, N gonorrhoeae
infections in chronic granulomatous disease
S aureus, E. coli, Aspergillus (catalase positive)
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 (e.g. mitral regard, HF), common in dilated ventricles
S4 heart sound
Stiff/hypertrophic ventricle (aortic stenosis, restrictive cardiomyopathy)
Constrictive pericarditis
Developing world: TB
Developed world: idiopathic, viral illness
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, trunks 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, secondary
renal artery stenosis, chronic kidney disease (e.g. polycystic kidney disease, diabetic neuropathy), 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
tertiary syphilis (syphilitic aortitis), vasa vasorum destruction
site of atherosclerosis
abdominal aorta > coronary artery > popliteal artery > carotid artery
cardiac manifestations of lupus
marantic/thrombotic endocarditis (nonbacterial)
heart valve in bacterial endocarditis
mitral > aortic (rheumatic fever), tricuspid (IV drug abuse)
endocarditis presentation associated with bacterium
S. aureus (acute, IVDA, tricuspid valve)
S. viridans (subacute, dental procedures)
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 primary tumor (kids)
Rhabdomyoma, often seen in tuberous sclerosis
Cardiac tumor (adults)
metastasis, myxoma (90% in LA; ‘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
DM 1, SLE, Graves disease, Hashimoto thyroiditis (also assoc with HLA-DR5), Addison disease
Thyroid cancer
papillary carcinoma (childhood irradiation)
hypoparathyroidism
accidental excision during thyroidectomy
primary hyperparathyroidism
adenomas, hyperplasia, carcinoma
secondary hyperparathyroidism
hypocalcemia of chronic kidney disease
hypopituitarism
pituitary adenoma (usually benign tumor)
HLA-DR4
DM 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 (increase 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’s disease)
diverticulum in pharynx
Zenker diverticulum (dx by barium swallow)
site of diverticula
sigmoid colon
hepatocellular carcinoma
cirrhotic liver (associated with hep B and C, alcoholism, and hemochromatosis)
liver disease
alcoholic cirrhosis
primary liver cancer
hepatocellular carcinoma (chronic hepatitis, cirrhosis, hemochromatosis, alpha1-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 (bening congenital unconjugated hyperbilirubinemia)
Hemochromatosis
multiple blood transfusions or hereditary HFE mutation (can result in heart failure, ‘bronze diabetes’, and increase risk of hepatocellular carcinoma)
pancreatitis (acute)
gallstones, alcohol
pancreatitis (chronic)
alcohol (adults) cystic fibrosis (kids)
autosplenectomy (fibrosis and shrinkage)
sickle cell disease (Hgb S)
microcytic anemia
iron deficiency
bleeding disorder with GpIb deficiency
Bernard-Soulier syndrome (defect in platelet adhesion to von Willebrand factor)
DIC
severe sepsis, obstetric complications, cancer, burns, trauma, major surgery, acute pancreatitis, APL
hereditary bleeding disorder
von Willebrand disease
Malignancy associated with noninfectious fever
Hodgkin lymphoma
Type of Hodgkin lymphoma
nodular sclerosing (vs. mixed cellularity, lymphocytic predominance, lymphocytic depletion)
t(14;18)
Follicular lymphomas (BCL-2 activation, anti-apoptotic oncogene)
t(8;14)
Burkitt lymphoma (c-myc fusion, transcription factor oncogene)
type of non-hodgkin lymphoma
diffuse large B-cell lymphoma
primary 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)
Philadelphia chromosome
CML (BCR-ABL oncogene, tyrosine kinase activation)
more rarely assoc with ALL
vertebral compression fracture
osteoporosis (type I: postmenopausal; 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 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 shape)
hematoma - subdural
rupture of bridging veins (crescent shaped)
dementia
alzheimer disease, multiple infarcts (vascular dementia)
demyelinating disease in young woman
multiple sclerosis
brain tumor (adults)
Supratentorial: metastasis, astrocytoma (including glioblastoma multiforme), meningioma, schwannoma
pituitary tumor
prolactinoma, somatotropic adenoma
brain tumor (kids)
Infratentorial: medulloblastoma (cerebellum)
Supratentorial: craniopharyngioma
mixed (UMN and LMN) motor neuron disease
amyotrophic lateral sclerosis
primary 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: assoc with von Hippel-Lindau and cigarette smoking Paraneoplastic syndromes (EPO, renin, PTHrP, ACTH)
primary 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), increase placental ALP
right heart failure due to a pulmonary cause
cor pulmonale
hypercoaguability, endothelial damage, blood stasis
Virchow triad (increase risk of thrombosis)
pulmonary hypertension
idiopathic, heritable, left heart disease (e.g. HF), lung disease (e.g. COPD), hyperemic vasoconstriction (e.g. OSA), thromboembolic (e.g. PE)
SIADH
small cell carcinoma of the lung