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157 Cards in this Set

  • Front
  • Back
Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome (poslhepalic venous Ihrombosis)
Achilles lendon xanthoma
Familial hypercholesterolemia [AD], hyperlipidemia type IIA
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfan's syndrome (fibrillin defect)
Back pain, fever, night sweats, weight loss
Pott's disease (vertebral tuberculosis)
Big toe extension/fanning upon plantar scrape
Babinski's sign (UMN lesion)
Bilateral hilar adenopathy, uveitis
Sarcoidosis (noncaseating granulomas)
Blue sclera
Osteogenesis imperfecta (collagen [type I] defect)
Bluish line on gingiva
Burton's line (lead poisoning)
Bone pain, bone enlargement, arthritis
Paget's disease of bone (↑ osteoblastic and osteoclastic activity)
Café-au-lait spots, Lisch nodules (iris hamartoma)
Neurofibromatosis type 1 [AD] [von Recklinghausen's disease, chromosome 17 long arm](+ bilateral acoustic neuromas = type II [NF2 gene on chromosome 22])
Calf pseudohypertrophy
Muscular dystrophy (mosl commonly Duchenne's)
Cherry-red spot on macula
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (lysosomal storage disease)
Chest pain, pericardial effusion/friction rub. persistent fever following Ml
Dressler's syndrome (autoimmune-mediated post-MI fibrinous pericarditis)
Child uses arms to stand up from squat
Cowers' sign (Duchenne muscular dystrophy: X-linked recessive deleted dystrophin gene)
Child with fever develops red rash on face that spreads to body
"Slapped cheeks" (erythema infectiosum/fifth disease: parvovirus B19)
Chorea, demenlia, caudate degeneration
Hunlington's disease (autosomal-dominant CAG repeat expansion)
Chronic exercise intolerance wilh myalgia, fatigue, painful cramps, myoglobinuria with strenuous exercise
McArdle's disease (muscle glycogen phosphorylase deficiency, glycogen storage disease type V)
Cold intolerance
Hypothyroidism
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia (damage lo MLF; bilateral [multiple sclerosis], unilateral [stroke])
Continuous "machinery" heart murmur
PDA (close wilh indomethacin; open with misoprostol)
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (hypothyroidism, Graves' disease)
Dark purple skin/mouth nodules
Kaposi's sarcoma (usually AIDS patients [gay men]: associated with HHV-8)
Deep, labored brealhing/hyperventilation
Kussmaul breathing (diabetic ketoacidosis)
Dermatitis, dementia, diarrhea
Pellagra (niacin [vitamin B3] deficiency)
Dilated cardiomyopathy, edema, polyneuropathy
Wet beriberi (thiamine [vitamin B1] deficiency)
Dog or cat bite resulting in infection
Pasteurella multocida
Dry eyes, dry mouth, arthritis
Sjögren's syndrome (autoimmune destruction of exocrine glands)
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell cardnoma)
Elastic skin, hypermobility of joints
Ehlers-Danlos syndrome (collagen defect)
Enlarged, hard left supraclavicular node
Virchow's node (abdominal metastasis)
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Sézary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides
Facial muscle spasm upon tapping
Chvostek's sign (hypocalcemia)
Fat, female, forty, and fertile
Acute cholecystitis (bile duct blockage)
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles (Morbillivirus)
Fever, night sweats, weight loss
B symptoms (lymphoma)
Fibrous plaques in soft tissue of penis
Peyronie's disease (connective tissue disorder)
Gout, mental retardation, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency)
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson's disease)
Hamartomalous Gl polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction; ↑ cancer risk)
Hepatosplenomegaly, osteoporosis, neurologic symptoms, aseptic necrosis of femur.
Gaucher's disease (β-glucocerebrosidase deficiency) [AR]. Gaucher's cells (macrophages that look like crumpled tissue paper)
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport's syndrome (due to a variety of gene defects resulting in abnormal type IV collagen), [XR] most common.
Hypercoagulability (leading to migrating DVTs and vasculitis)
Trousseau's sign (adenocarcinoma of pancreas or lung)
Hyperphagia, hypersexualily, hyperoralily, hyperdocilily
Klüver-Bucy syndrome (bilateral amygdala lesion)
Hypertension, hypokalemia, metabolic acidosis
Conn's syndrome (1° hyperaldosteronism)
Hypoxemia, polycythemia, hypercapnia
"Blue bloater" (chronic bronchitis: hyperplasia of mucous cells)
Indurated, ulcerated genital lesion (nonpainful)
Chancre (1° syphilis: Treponema pallidum)
Infant with failure to thrive, hepatosplenomegaly, neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency) [AR], cherry-red spot on macula, foam cells.
Infant with hypoglycemia, failure to thrive, and hepatomegaly, normal lactate levels.
Cori's disease (debranching enzyme (α-1,6-glucosidase) deficiency, glycogen storage disease type III)
Infant with microcephaly, rocker-bottom feet, and structural heart defeel
Edwards' syndrome (trisomy 18)
Jaundice, RUQ pain, fever
Charcot's triad 2 (ascending cholangitis)
Keratin pearls on a skin lesion
Squamous cell carcinoma
Large rash with bull's-eye appearance
Erythema chronicum migrans from tick bite (Lyme disease: Borrelia)
Lucid interval after traumatic brain injury
Epidural hematoma
Male child, recurrent infections, no mature B cells
Bruton's disease (X-linked agammaglobulinemia) [AR]
Mucosal bleeding and prolonged bleeding time
Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of Gpllb/IIIa)
Mulliple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner's syndrome (genetic disorder, predisposes to colon cancer)
Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis
Wegener's and Goodpasture's syndromes (hemoptysis and glomerular disease)
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: "waiter's tip")
No lactation postpartum, absent menstruation, cold intolerance
Sheehan's syndrome (pituitary infarction)
Nystagmus, intention tremor, scanning speech
Charcot's triad 1 (mulliple sclerosis)
Oscillating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or ↑ intracranial pressure)
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)
Painful, pale, cold fingers/toes
Raynaud's syndrome (vasospasm in extremities)
Painful, raised red lesions on palms and soles
Osler's node (infective endocarditis)
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
Palpable purpura, joint pain, abdominal pain (child)
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
Pancreatic, pituitary, parathyroid tumors
Wermer's syndrome (MEN 1) [AD]
Pink complexion, dyspnea, hyperventilation
"Pink puffer" (emphysema: centroacinar [smoking], panacinar [α1-antitrypsin deficiency])
Polyostotic fibrous dysplasia, precocious puberty, café-au-lait spots, short stature in a young girl
McCune-Albright syndrome (mosaic G-protein signaling mutation)
Polyuria, acidosis, growth failure, electrolyte imbalances
Fanconi's syndrome (proximal tubular reabsorption defect)
Positive anterior "drawer sign"
Anterior cruciate ligament (ACL) injury
Ptosis, miosis, anhidrosis
Horner's syndrome (sympathetic chain lesion)
Pupil accommodates but doesn't react
Argyll Robertson pupil (neurosyphilis)
Rapidly progressive leg weakness that ascends (following Gl/upper respiralory infection)
Guillain-Barré syndrome (autoimmune acute inflammatory demyelinating polyneuropathy)
Rash on palms and soles
2˚ syphilis, Rocky Mountain spotted fever
Recurrent colds, unusual eczema, high serum IgE
Job's syndrome (hyper-lgE syndrome: neutrophil chemotaxis abnormalily)
Red "currant jelly" sputum
Klebsiella pneumoniae
Red, itchy, swollen rash of nipple/areola
Paget's disease of the breast (represents underlying neoplasm)
Red urine in the morning
Paroxysmal nocturnal hemoglobinuria
Renal cell carcinoma, hemangioblastomas of retian/cerebellum/medulla, angiomatosis, pheochromocytoma
von Hippel-Lindau disease ([AD] dominant tumor suppressor gene [VHL] mutation on chromosome 3p, constitutive expression of HIF)
Resting tremor, rigidity, akinesia, postural instability
Parkinson's disease (nigrostriatal dopamine depletion)
Restrictive cardiomyopathy (juvenile form: cardiomegaly), exercise intolerance
Pompe's disease (lysosomal α-1,4-glucosidase deficiency (acid maltase), glycogen storage disease type II)
Retinal hemorrhages wilh pale centers
Roth's spots (bacterial endocarditis)
Severe jaundice in neonate
Crigler-Najiar syndrome (congenital unconjugated hyperbilirubinemia)
Severe RLQ pain with rebound tenderness
McBurney's sign (appendidtis)
Short stature, ↑ incidence of tumors/leukemia, aplastic anemia
Fanconi's anemia (genetically inherited; often progresses to AML)
Single palm crease
Simian crease (Down syndrome)
Situs inversus, chronic sinusitis, bronchiectasis
Kartagener's syndrome (dynein defect affecting cilia)
Skin hyperpigmentation
Addison's disease (1° adrenocortical insuffidency of autoimmune or infectious etiology)
Slow, progressive muscle weakness in boys
Becker's muscular dystrophy (X-linked, defective dystrophin; less severe than Duchenne's)
Small, irregular red spots on buccal/lingual mucosa with blue-while centers
Koplik spots (measles)
Small, nontender, erythematous lesions on palms/soles
Janeway lesions (infective endocarditis)
Smooth, flat, moist while lesions on genitals
Condylomata lata (2° syphilis)
Splinter hemorrhages in fingernails
Bacterial endocarditis
"Strawberry tongue"
Scarlet fever, Kawasaki disease, toxic shock syndrome
Streak ovaries, congenital heart disease, horseshoe kidney
Turner's syndrome (XO, short stature, webbed neek, lymphedema)
Sudden swollen/painful big toe joint, tophi
Cout/podagra (hyperuricemia)
Swollen gums, mucous bleeding, poor wound healing, spots on skin
Scurvy (vitamin C deficiency: can't hydroxylale proline/lysine for collagen synthesis)
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard's nodes], DIP [Heberden's nodes])
Systolic ejection mumur (crescendo-decrescendo)
Aortic valve stenosis
Thyroid (parafollicular cells (medullary thyroid cancer)), parathyroid, adrenal tumors (pheochromocytoma)
Sipple's syndrome [AD] (MEN 2A, mutation of germline RET gene (neural crest cells))
Ulcerated genital lesion with exudate (painful)
Chancroid (Haemophilus ducreyi)
Unilateral facial drooping
Bell's palsy (LMN CNVII palsy)
Urethritis, conjunctivitis, arthritis in a male
Reiter's syndrome (reactive arthritis associated with HLA-B27)
Vascular birthmark (port-wine stain)
Hemangioma (benign, but associated with Sturge-Weber syndrome)
Vasculitis from exposure to endotoxin causing glomerular thrombosis
Shwartzman reaction (following second exposure to endotoxin)
Vomiting blood following esophagogastric lacerations
Mallory-Weiss syndrome (alcoholics and eating disorders)
"Waxy" casts with very low urine flow
Chronic end-stage renal disease
WBC casts in urine
Acule pyelonephritis or cystitis
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple's disease (Tropheryma whippelii)
"Worst headache of my life"
Berry aneurysm (associaled wilh adult polycystic kidney disease)
facial lesions (adenoma sebaceum), hypopigmented "ash leaf spots" on skin, cortical and retinal hamartomas, seizures, mental retardation. renal cysts and renal angiomyolipomas, cardiac rhabdomyomas, ↑ incidence of astrocytomas.
Tuberous sclerosis [AD]
Hereditary hemorrhagic telangiectasia. Telangiectasia, recurrent epistaxia, skin discolorations, arteriovenous malformations (AVMs).
Olser-Weber-Rendu syndrome [AD]
Autosomal-recessive defect in CFTR gene on chromosome 7.Defective Cl channel →secretion of abnormally thick mucus that plugs lungs, pancreas, and liver → recurrent pulmonary infections (Pseudomonas species and S. aureus). chronic bronchitis, bronchiectasis. pancreatic insufficiency (malabsorption and steatorrhea), meconium ileus in newborns.
"Cystic fibrosis [AR]; Infertility in males due to bilateral absence of vas deferens. Fat-soluble vitaimin deficiencies ( A. D. E. K). Can present as failure to thrive in infancy. Most common lethal genetic disease of Caucasians. ↑ concentration of Cl ions in sweat test is diagnostic. Treatment: N-acetylcysteine to loosen mucous plugs (cleaves disulfide bonds within mucous glycoproteins).
X-linked recessive disorders
1. Bruton's agammaglobulinemia, 2. Wiskott-Aldrich syndrome. 3. Fabry's disease, 4. G6PD deficiency. 5. Ocular albinism,6. Lesch-Nyhan syndrome, 7. Duchenne's (and Becker's) muscular dystrophy, 8. Hunter's Syndrome, 9. Hemophilia A and B.
Trinucleotide repeat expansion diseases
Huntington's disease (CAG), myotonic dystrophy (CTG). Friedreich's ataxia (GAA), fragile X syndrome (CGG).
Cri-du-chat syndrome
Congenilal microdeletion of short arm of chromosome- 5 (46,XX or XY. 5p-). microcephaly. moderate lo severe mental retardation. high-pitched crying/mewing, epicanthal folds. cardiac abnormalities.
Williams syndrome
Congenital microdeletion of long arm of chromosome 7 (deleted region inclucles elastin gene). "elfin" fades, mental tetardation. hypercalcemia (↑ sensitivity to vitamin D), well-developed verbal skills, extreme friendliness wilh strangers, cardiovascular problems.
22q11 deletion syndromes
Cleft palale. Abnormal facies, Thymic aplasia → T-cell deficiency, Cardiac defects. Hypocalcemia 2° to patathyroicl aplasia, due to microdeletion at chromosome 22q 11. 1) DiGeorge syndrome—thymic, parathyroid, and cardiac defects. 2) Velocardiofacial syndrome —palate, facial, and cardiac defects.
Phenylketonuria
[AR] ↓ phenylalanine hydroxylase or ↓ tetrahydrobiopterin cofactor. Tyrosine becomes essential. mental retardalion, growth retardation, seizures, fair skin, eczema, musty body odor. Treatment: ↓phenylalanine (contained in aspartame) and ↑ tyrosine in diet.
Alkaptonuria
(ochronosis) Congenital deficiency of homogentisic acid oxidase in the degradative pathway of tyrosinc.[AR]. dark connective tissue, pigmented sclera, urine turns black on standing.
Albinism
X-linked recessive. Either 1. Tyrosinase deficiency or 2. Defective tyrosine transporlers. Can result from a lack of migration of neural crest cells.
Homocystinuria
"3 forms (all [AR]): 1. Cystathionine synthase deficiency; 2. ↓affinity of cystathionine synthase for pyridoxal phosphate; 3. Homocysteine methyltransfrase deficiency. Cysteine becomes essential. Findings: ↑↑ homocysteine in urine, mental retardation, osteoporosis, tall stature, kyphosis, lens subluxation (downward and inward), and atherosclerosis (stroke and Ml).
Cystinuria
[AR] defect of renal tubular amino acid transporter for cysteine, ornithine, lysine, and arginine in the PCTof the kidneys. Cystine kidney stones (cystine staghorn calculi). Treatment: acetazolamide to alkalinize the urine.
Maple syrup urine disease
Blocked degradation of branched amino acids (Ile, Leu, Val) due to ↓ α-ketoacid dehydrogenase. Gauses ↑α-ketoacids in the blood, especially Leu. severe CNS defects. mental retardation, and death.
Hartnup disease
[AR] defective neutral amino acid transporter on renal and intestinal epithelial cells, Causes tryptophan excretion in urine and absorption from the gut. Leads to pellagra.
Severe fasting hypoglycemia, ↑↑glycogen in liver. ↑ blood lactate, hepatomegaly
Von Gierke's disease (GIucose-6-phosphatase deficiency, glycogen storage disease type I)
infant found failure to thrive, steatorrhea, acanthocytosis. ataxia, night blindness.
Abeta-lipoproteinemia: Hereditary inability to synthesize lipoproteins due to deficiencies in apoB-100 and apoB-48. [AR] Symptoms appear in the first few months of life. Intestinal biopsy shows accumulation within enterocytes due to inability to export absorbed lipid as chylomicrons.
Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renaI disease
Fabry's disease. [XR]. α-galactosidase A deficiency. Ceramide trihexoside accumulation.
Progressive neurodegeneration, developmental delay, cherry-red spot on macula, Iysosomes with onion skin, NO hepatosplenomegaly
Tay-Sachs disease. [AR] Hexosaminidase A deficiency, GM2 ganglioside accumulation.
VACTERL
Mesodermal defects: Vertebral defects. Anal atresia, Cardiac defects, Tracheo-Esophageal fistula, Renal defects. Limb defects (bone and muscle).
Urachal duct
3rd week—yolk sac forms allantois, which extends into urogenital sinus. Allantois becomes urachus. a duct between bladder and yolk sac. Failure of urachus to obliterate: 1. Patent urachus —urine discharge from umbilicus; 2. Vesicourachal diverticulum — utpouching of bladder
Vitelline duct abnormalities
7th week —obliteration of vitelline duct (omphalomesenteric duct), which connects yolk sac to midgut lumen. 1. Vitelline fistula —failure of duct to close→ meconium discharge from umbilicus. Examples: Meckel's; 2. diverticulum—partial closure, with patent portion attached to ileum. May have ectopic gastric mucosa→ melena and RUQ pain.
Bilateral renal agenesis→ oligohydramnios→ limb deformities, facial deformities, pulmonary hypoplasia. Caused by malformation of ureteric bud.
Potter's syndrome
rose gardener's disease
Sporotrichosis. causes local pustule or ulcer with nodules along draining lymphatics (ascending lymphangitis)
river blindness
onchocerca volvulus infection. Transmitted by female blackflies; causes hyperpigmented skin and river blindness (remember blackflies, black skin nodules, "black sight"). Rx. Ivermectin
parasite hints: Brain cysts, seizures
Taenia solium (cysticercosis)
parasite hints: Liver cysts
Echinococcus granulosus
parasite hints: B12 deficiency
Diphyllobothrium latum
parasite hints: Biliary tract disease, cholangiosarcinoma
Clonorchis sinensis
parasite hints: Hemoptysis
Paragonimus westermani
parasite hints: Portal hypertension
Schistosoma mansoni
parasite hints: Hematuria, bladder cancer
Schistosoma haematobium
parasite hints: Microcytic anemia
Ancylostoma, Necator
parasite hints: Perianal pruritus
Enterobius
Live attenuated vaccines
smallpox, yellow fever. chickenpox (VZV). Sabin's polio virus. MMR.
Killed vaccines
Rabies, Influenza, Salk Polio, and HAV
Recombinant vaccines
HBV (antigen = recombinant HBsAg). HPV (type 6, 11, 16 and 18)
Naked (nonenveloped) viruses
Calicivirus, Picornavirus, Reovirus, Parvovirus, Adenovirus, Papilloma, and Polyoma. (CPR and PAPP)
most common cause of sporadic encephalitis in the USA
temporal lobe encephalitis caused by HSV-1
UTI bugs
SSEEK PP. Serratia marcescens, Staphylococcus saprophyticus, Escherichia coli, Enterobacter cloacae, Klebsiella pneumoniae, Proteus mirabilis, Pseudomonas aeruginosa.
ToRCHeS infections
Microbes that may pass from mother to fetus: Toxoplasma gondii, Rubella, CMV, HIV, HSV type 2, Syphilis. Other important congenital infections: Listeria, E. coli, and group B streptococci
congential infection of Toxoplasma gondii
classic triad: chorioretinitis, intracranial calcifications, and hydrocephalus
congential infection of Rubella
classic triad: 1. PDA or pulmonary artery hypoplasia, 2. catracts, 3. deafness ± "blueberry muffin" rash.
Fitz-Hugh-Curtis syndrome
infection of the liver capsule and "violin string" adhesions of parietal peritoneum to liver. Can due to PID