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115 Cards in this Set

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Clinical Presentation:
Abdominal pain, ascites, hepatomegaly
Diagnosis/Disease:
Budd-Chaiari syndrome (posthepatic venous thrombosis)
Clinical Presentation:
Achilles tendon xanthoma
Diagnosis/Disease:
Familial hypercholesterolemia (decrease LDL receptor signaling)
Clinical Presentation:
Adrenal hemorrhage, hypotension, DIC
Diagnosis/Disease:
Waterhouse-Friderichsen syndrome (meningococcemia)
Clinical Presentation:
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Diagnosis/Disease:
Marfan's syndrome (fibrillin defect)
Clinical Presentation:
Athlete wiht polycythemia
Diagnosis/Disease:
Erythropoietin injection
Clinical Presentation:
Back pain, fever, night sweats, weight loss
Diagnosis/Disease:
Pott's disease (vertebral tuberculosis)
Clinical Presentation:
Bilateral hilar adenopathy, uveitis
Diagnosis/Disease:
Sarcoidosis (noncaseating granulomas)
Clinical Presentation:
Blue sclera
Diagnosis/Disease:
Osteogenesis imperfecta (collagen defect)
Clinical Presentation:
Bluish line on gingiva
Diagnosis/Disease:
Burton's line (lead poisoning)
Clinical Presentation:
Bone pain, bone enlargement, arthritis
Diagnosis/Disease:
Paget's disease of bone (increase osteoblastic and osteoclastic activity)
Clinical Presentation:
Bounding pulses, diastolic heart murmur, head bobbing
Diagnosis/Disease:
Aortic regurgitation
Clinical Presentation:
"Butterfly" facial rash and Raynaud's phenomenon in a young female
Diagnosis/Disease:
Systemic lupus erythematosus (SLE)
Clinical Presentation:
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
Diagnosis/Disease:
Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)
Neurofibromatosis type II (+ bilateral acoustic neuromas)
Clinical Presentation:
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty
Diagnosis/Disease:
McCune-Albright syndrome (mosaic G-protein signaling mutation)
Clinical Presentation:
Cal pseudohypertrophy (fat and connective tissue in calf)
Diagnosis/Disease:
Muscular dystrophy (most commonly Duchenne's): X-linked recessive deletion of dystrophin gene
Clinical Presentation:
"Cherry-red spot" on macula
Diagnosis/Disease:
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
Clinical Presentation:
Chest pain on exertion
Diagnosis/Disease:
Angina (stable; moderate exertion; unstable: minimal exertion)
Clinical Presentation:
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Diagnosis/Disease:
Dressler's syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
Clinical Presentation:
Child uses arms to stand up from squat
Diagnosis/Disease:
Gower's sign (Duchenne muscular dystrophy)
Clinical Presentation:
Child with fever develops red rash on face that spreads to body
Diagnosis/Disease:
"slapped cheeks" (erythema infectiosum/fifth disease: parvovirus B19)
Clinical Presentation:
Chorea, dementia, caudate degeneration
Diagnosis/Disease:
Huntington's disease (autosomal-dominant CAG repeat expansion)
Clinical Presentation:
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
Diagnosis/Disease:
McArdle's disease (muscle glycogen phosphorylase deficiency
Clinical Presentation:
Cold intolerance
Diagnosis/Disease:
Hypothyroidism
Clinical Presentation:
Conjugate lateral gase palsy, horizontal diplopia
Diagnosis/Disease:
Internuclear opthalmoplegia (damage to MLF; bilateral [multiple sclerosis],unilateral [stroke])
Clinical Presentation:
Continuous "machinery" heart murmur
Diagnosis/Disease:
PDA (close with indomethacin; open wiht misoprostol)
Clinical Presentation:
Cutaneous/dermal edema due to connective tissue deposition
Diagnosis/Disease:
Myxedema (caused by hypothyroidism, Graves' disease [periorbital])
Clinical Presentation:
Dark purple skin/mouth nodules
Diagnosis/Disease:
Kaposi's Sarcoma (usually AIDS patients [gay dudes]: associated with HHV-8)
Clinical Presentation:
Deep, labored breathing/hyperventilation
Diagnosis/Disease:
Kussmaul breathing (diabetic ketoacidosis)
Clinical Presentation:
Dermatitis, dementia, diarrhea
Diagnosis/Disease:
Pellagra (niacin [vitamin B3] deficiency)
Clinical Presentation:
Dilated cardiomyopathy, edema, polyneuropathy
Diagnosis/Disease:
Wet beriberi (thiamine [vitamin B1] deficiency)
Clinical Presentation:
Dog or cat bite resulting in infection
Diagnosis/Disease:
Pasteurella multocida (cellulitis at inoculation site)
Clinical Presentation:
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Diagnosis/Disease:
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
Clinical Presentation:
Elastic skin, hypermobility of joints
Diagnosis/Disease:
Ehlers-Danlos syndrome (type III collagen defect)
Clinical Presentation:
Enlarged, hard left supraclavicular node
Diagnosis/Disease:
Virchow's node (abdominal metastasis)
Clinical Presentation:
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Diagnosis/Disease:
Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides
Clinical Presentation:
facial muscle spasm upon tapping
Diagnosis/Disease:
Chvostek's sign (hypocalcemia)
Clinical Presentation:
Fat, femal, forty, and fertile
Diagnosis/Disease:
Acute cholelithiasis (bile duct blockage)
Clinical Presentation:
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Diagnosis/Disease:
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
Clinical Presentation:
Fever, cough, conjunctivitis, coryza, diffuse rash
Diagnosis/Disease:
Measles (Morbillivirus)
Clinical Presentation:
Fever, night sweats, weight loss
Diagnosis/Disease:
B symptoms (lymphoma)
Clinical Presentation:
Fibrous plaques in soft tissue of penis
Diagnosis/Disease:
Peyronie's disease (connective tissue disorder)
Clinical Presentation:
Gout, mental retardation, self-mutilating behavior in a boy
Diagnosis/Disease:
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
Clinical Presentation:
Green-yellow rings around peripheral cornea
Diagnosis/Disease:
Kayser-Fleischer rings (copper accumulation from Wilson's disease)
Clinical Presentation:
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Diagnosis/Disease:
Peutz-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction; increased cancer risk)
Clinical Presentation:
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Diagnosis/Disease:
Gaucher's disease (glucocerebrosidase deficiency)
Clinical Presentation:
Hereditary nephritis, sensorineural hearing loss, cataracts
Diagnosis/Disease:
Alport syndrome (mutation in alpha chain of collagen IV)
"can't see, can't pee, can't hear"
Clinical Presentation:
Hypercoagulability (leading to migrating DVTs and vasculitis)
Diagnosis/Disease:
Trousseau's sign (adenocarcinoma of pancreas or lung)
Clinical Presentation:
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Diagnosis/Disease:
Kluver-Bucy syndrome (bilateral amygdala lesion)
Clinical Presentation:
Hyperreflexia, hypertonia, positive Babinski sign
Diagnosis/Disease:
UMN damage
Clinical Presentation:
Hypertension, hypokalemia, metabolic alkalosis
Diagnosis/Disease:
Conn's syndrome
Clinical Presentation:
Hyporeflexia, hypotonia, atrophy
Diagnosis/Disease:
LMN damage
Clinical Presentation:
Hypoxemia, polycythemia, hypercapnia
Diagnosis/Disease:
"Blue bloater" (chronic bronchitis; hyperplasia of mucous cells)
Clinical Presentation:
Indurated, ulcerated genital lesion
Diagnosis/Disease:
Nonpainful: chancre (primary syphilis, Treponema pallidum)
Painful with exudate: chancroid (Haemophilus ducreyi)
Clinical Presentation:
Infant with failure to thrive, hepatosplenomegaly, neurodegeneration
Diagnosis/Disease:
Niemann-Pick disease (genetic sphingomyelinase deficiency)
Clinical Presentation:
Infant with hypoglycemia, failure to thrive, and hepatomegaly
Diagnosis/Disease:
Cori's disease (debranching enzyme deficiency)
Clinical Presentation:
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Diagnosis/Disease:
Edwards' syndrome (trisomy 18)
Clinical Presentation:
Keratin pearls on a skin biopsy
Diagnosis/Disease:
squamous cell carcinoma
Clinical Presentation:
Large rash with bull's-eye appearance
Diagnosis/Disease:
Erythema chronicum migrans from Ixodes tick bite (lyme disease: Borrelia)
Clinical Presentation:
Lucid interval after traumatic brain injury
Diagnosis/Disease:
Epidural hematoma (middle meningeal artery rupture)
Clinical Presentation:
Male child, recurrent infections, no mature B cells
Diagnosis/Disease:
Burton's disease (X-linked agammaglobulinemia)
Clinical Presentation:
Mucosal bleeding and prolonged bleeding time
Diagnosis/Disease:
Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
Clinical Presentation:
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Diagnosis/Disease:
Gardner's syndrome (subtype of FAP)
Clinical Presentation:
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Diagnosis/Disease:
Pompe's disease (lysosomal alpha-1,4-glucosidase deficiency)
Clinical Presentation:
Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis
Diagnosis/Disease:
Wegener's (c-ANCA positive) and Goodpasture's syndromes (anti-basement membrane antibodies)
Clinical Presentation:
Neonate with arm paralysis following difficult birth
Diagnosis/Disease:
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury; "waiter's tip")
Clinical Presentation:
No lactation postpartum, absent menstruation, cold intolerance
Diagnosis/Disease:
Sheehan's syndrome (pituitary infarction)
Clinical Presentation:
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Diagnosis/Disease:
Multiple sclerosis
Clinical Presentation:
Oscillating slow/fast breathing
Diagnosis/Disease:
Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure)
Clinical Presentation:
Painful, pale, cold fingers/toes
Diagnosis/Disease:
Raynaud's syndrome (vasospasm in extremities)
Clinical Presentation:
Painful, raised red lesions on palms and soles
Diagnosis/Disease:
Osler's node (infective endocarditis)
Clinical Presentation:
Painless erythematous lesions on palms and soles
Diagnosis/Disease:
Janeway lesions (infective endocarditis)
Clinical Presentation:
Panless jaundice
Diagnosis/Disease:
Cancer of the pancreatic head obstructing bile duct
Clinical Presentation:
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child)
Diagnosis/Disease:
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
Clinical Presentation:
Pancreatic, pituitary, parathyroid tumors
Diagnosis/Disease:
MEN 1 (autosomal dominant)
Clinical Presentation:
Pink complexion, dyspnea, hyperventilation
Diagnosis/Disease:
"Pink puffer" (emphysema: centroacinar [smoking], panacinar [alpha1-antitrypsin deficiency)
Clinical Presentation:
Polyuria, acidosis, growth failure, electrolyte imbalances
Diagnosis/Disease:
Fanconi's syndrome (proximal tubular reabsorption defect)
Clinical Presentation:
Positive anterior "drawer sign"
Diagnosis/Disease:
Anterior cruciate ligament (ACL) injury
Clinical Presentation:
Ptosis, miosis, anhidrosis
Diagnosis/Disease:
Horner's syndrome (sympathetic chain lesion)
Clinical Presentation:
Pupil accommodates but doesn't react
Diagnosis/Disease:
Argyll Robertson pupil (neurosyphilis) (prostitute's pupil)
Clinical Presentation:
Rapidly progressive leg weakness that ascends (following GI/URI)
Diagnosis/Disease:
Guillain-Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy)
Clinical Presentation:
Rash on palms and soles
Diagnosis/Disease:
Coxsackie A
Secondary syphilis
Rocky Mountain spotted fever
Clinical Presentation:
Recurrent colds, unusual eczema, high serum IgE
Diagnosis/Disease:
Hyper-IgE syndrome (Job's syndrome: neutrophil chemotaxis abnormality)
Clinical Presentation:
Red "currant jelly" sputum in alcoholic or diabetic patients
Diagnosis/Disease:
Klebsiella pneumoniae
Clinical Presentation:
Red, itchy, swollen rash of nipple/areola
Diagnosis/Disease:
Paget's disease of the breast (represents underlying neoplasm)
Clinical Presentation:
Red urine in the morning, fragile RBCs
Diagnosis/Disease:
Paroxysmal nocturnal hemoglobinuria
Clinical Presentation:
Renal cell carcinoma (bilateral); hemangioblastomas, angiomatosis, pheochromocytoma
Diagnosis/Disease:
von Hibbel-Lindau disease (dominant tumor suppressor gene mutation)
Clinical Presentation:
Resting tremor, rigidity, akinesia, postural instability
Diagnosis/Disease:
Parkinson's disease (nigrostriatal dopamine depletion)
Clinical Presentation:
Retinal hemorrhages with pale centers
Diagnosis/Disease:
Roth's spots (bacterial endocarditis)
Clinical Presentation:
Severe jaundice in neonate
Diagnosis/Disease:
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
Clinical Presentation:
Severe RLQ pain with rebound tenderness
Diagnosis/Disease:
McBurney's sign (appendicitis)
Clinical Presentation:
Short stature, increased incidence of tumors/leukemia, aplastic anemia
Diagnosis/Disease:
Fanconi's anemia (genetic loss of DNA crosslink repair; often progresses to AML)
Clinical Presentation:
Single palm crease
Diagnosis/Disease:
Simian crease (Down syndrome)
Clinical Presentation:
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Diagnosis/Disease:
Kartagener's syndrome (dynein arm defect affecting cilia)
Clinical Presentation:
Skin hyperpigmentation
Diagnosis/Disease:
Addison's disease (primary adrenocortical insufficiency causes increased ACTH and alpha-MSH production)
Clinical Presentation:
Slow, progressive muscle weakness in boys
Diagnosis/Disease:
Becker's muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne's)
Clinical Presentation:
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Diagnosis/Disease:
Koplik spots (measles; rubeola virus)
Clinical Presentation:
Smooth, flat, moist white lesions on genitals
Diagnosis/Disease:
Condylomata lata (secondary syphilis)
Clinical Presentation:
Splinter hemorrhages in fingernails
Diagnosis/Disease:
Bacterial endocarditis
Clinical Presentation:
"strawberry tongue"
Diagnosis/Disease:
Scarlet fever, Kawasaki disease, toxic shock syndrome
Clinical Presentation:
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth
Diagnosis/Disease:
Turner syndrome (45XO, short stature, webbed neck, lymphedema)
Clinical Presentation:
Sudden swollen/painful big toe joint, tophi
Diagnosis/Disease:
Gout/podagra (hyperuricemia)
Clinical Presentation:
Swollen gums, mucous bleeding, poor wound healing, spots on skin
Diagnosis/Disease:
Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
Clinical Presentation:
Swollen, hard, painful finger joints
Diagnosis/Disease:
Osteoarthritis (osteophytes on PIP [Bouchard's nodes], DIP [Heberden's nodes])
Clinical Presentation:
Systolic ejection murmur (crescendo-decrescendo)
Diagnosis/Disease:
Aortic valve stenosis
Clinical Presentation:
Thyroid and parathyroid tumors, pheochromocytoma
Diagnosis/Disease:
MEN 2A (autosomal dominant ret mutation)
Clinical Presentation:
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
Diagnosis/Disease:
MEN2B (autosomal dominant ret mutation)
Clinical Presentation:
Toe extension/fanning upon plantar scrape
Diagnosis/Disease:
Positive Babinski sign (UMN lesion)
(normal in infants)
Clinical Presentation:
Unilateral facial drooping involving forehead
Diagnosis/Disease:
Bell's palsy (LMN CN VII palsy)
Clinical Presentation:
Urethritis, conjunctivitis, arthritis in a male
Diagnosis/Disease:
Reactive arthritis associated with HLA-B27
Clinical Presentation:
Vascular birthmark (port-wine stain)
Diagnosis/Disease:
Hemangioma (benign, but associated with Sturge-Weber syndrome)
Clinical Presentation:
Vomiting blood following esophagogastric lacerations
Diagnosis/Disease:
Mallory-Weiss syndrome (alcoholic and bulimic patients)
Clinical Presentation:
"Waxy" casts with very low urine flow
Diagnosis/Disease:
Chronic end-stage renal disease
Clinical Presentation:
WBC casts in urine
Diagnosis/Disease:
Acute pyelonephritis
Clinical Presentation:
Weight loss, diarrhea, arthritis, fever, adenopathy
Diagnosis/Disease:
Whipple's disease (Tropheryma whippelii)
Clinical Presentation:
"worst headache of my life"
Diagnosis/Disease:
Subarachnoid hemorrhage