Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
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
|