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120 Cards in this Set

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Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome(posthepatic venous thrombosis)
Achilles tendon xanthoma
Familial Hypercholestrolemia
Adrenal hemorrhage, hypotension, DIC
waterhouse-fridericksen syndrome(secondary to neisseria meningitidis infection)
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

genetic inheritance?
Marfan's Syndrome(fibrillin defect)

autosomal dominant
Athlete with polycythemia
Erythropoietin injection
lower Back pain, fever, night sweats, weight loss
Pott's disease(vertebral tuberculosis)

haematogenous spread of tuberculosis from other sites, often pulmonary
Back pain = THORACOLUMBAR
Bilateral hilar adenopathy, uveitis(iris, ciliary body, choroid)
Sarcoidosis(non-caseating granulomas)
Blue Sclera
Osteogenesis Imperfecta(Type I collagen defect)

OI Type I is autosomal dominant
OI Type II is fatal in the neonatal period

Type I Collagen - Present in Bones, Skin, Tendon, Cornea, Dentin, late wound repair

As such symptoms present with Blue Sclera(connective tissue translucence due to crappy collagen), Brittle Bones, Dental Imperfections, and hearing loss(middle ear bones crappy)
Bluish line on gingiva
Burton's line(lead poisoning)
Bone pain, bone enlargement, arthritis
Paget's Disease of bone(increased osteoblastic and osteoclastic activity)
Paget's Disease associations
Thought to be associated with paramyxovirus, increased serum calcium, phosphorus and PTH. Also, increased Alk Phos. Mosaic Bone Pattern; long bone chalk-stick fractures.

Increased blood flow from increased AV shunts in bone may cause high output heart failure. Can also lead to osteogenic sarcoma.
Bounding pulses, diastolic heart murmur, head bobbing
Aortic regurgitation

Bounding pulse is a medical sign characterized as a leaping and forceful pulse that quickly disappears.

In aortic insufficiency (AI), when the pressure in the left ventricle falls below the pressure in the aorta, the aortic valve is not able to completely close. This causes a leaking of blood from the aorta into the left ventricle. This means that some of the blood that was already ejected from the heart is regurgitating back into the heart.
Cafe-au-lait spots, Lisch Nodules(iris hamartoma)
Neurofibromatosis Type I(Also associated with skeletal disorders(scoliosis) and optic pathway gliomas
Cafe-au-lait spots, polyostotic fibrous dypslasia(a form of dysplasia affecting more than one bone), precocious puberty
McCune-Albright Syndrome (mosaic G protein signaling mutation)
Calf pseudohypertrophy
Muscular Dystrophy(most commonly Duchenne's)
"Cherry-red spot" on macular
Tay-Sachs(ganglioside accumulation) or Niemann-Pick(sphingomyelin accumulation), central retinal artery occlusion
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler's Syndrome(autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
Child uses arms to stand up from squat
Gower's Sign(Duchenne muscular dystrophy; X-linked recessive deleted dystrophin gene)

Dystrophin is responsible for connecting the cytoskeleton of each muscle fiber to the underlying basal lamina (extracellular matrix) through a protein complex containing many subunits
The absence of dystrophin permits excess calcium to penetrate the sarcolemma (cell membrane). Alterations in these signalling pathways cause water to enter into the mitochondria which then burst. In skeletal muscle dystrophy, mitochondrial dysfunction gives rise to an amplification of stress-induced cytosolic calcium signals and an amplification of stress-induced reactive-oxygen species (ROS) production. In a complex cascading process that involves several pathways and is not clearly understood, increased oxidative stress within the cell damages the sarcolemma and eventually results in the death of the cell. Muscle fibers undergo necrosis and are ultimately replaced with adipose and connective tissue.
Child with fever develops red rash on face that spreads to body
"Slapped cheeks" (erythema infectiosum/fifth disease: parvovirus b19)
Chorea, dementia, caudate degeneration

genetic inheritance?
Huntington's Disease(autosomal-dominant CAG repeat expansion)
Chronic exercise intolerance with myalgia, fatigue, painful cramps
McArdle's disease(muscle glycogen phosphorylase deficiency)

Myophosphorylase is the form of the glycogen phosphorylase found in muscle. Myophosphorylase is involved in the breakdown of glycogen to glucose for use in muscle. The enzyme removes 1,4 glycosyl residues from outer branches of glycogen and adds inorganic phosphate to form glucose-1-phosphate. Cells form glucose-1-phosphate instead of glucose during glycogen breakdown because the polar, phosphorylated glucose cannot leave the cell membrane and so is marked for intracellular catabolism.
Cold Intolerance
Hypothyroidism
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia
(damage to MLF, which connects CN III and CN VI)

unilateral condition probably due to stroke.
***bilateral condition A/W multiple sclerosis

When looking to the left, the left nucleus of CN VI fires, which contracts the left lateral rectus and stimulates the contralateral(right) nucleus of CN III via the right MLF to contract the right medial rectus
Continuous "machinery" heart murmur

close with?
open with?
PDA(close with indomethacin, a prostaglandin inhibitor; open with misoprostol, a prostaglandin analogue)
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (hypothyroidism, Grave's disease)

connective tissue deposition: glycosaminoglycans, hyaluronic acid, and other mucopolysaccharides
Dark purple skin/mouth nodules
Kaposi's sarcoma(usually AIDS patients[gay men]: associated with HHV-8)
Deep, labored breathing/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(cellulitis at inoculation site)
Dry eyes, dry mouth, arthritis
Sjogren's syndrome (autoimmune destruction of exocrine glands)

-- can lead to dental carries, "dust in eye"
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
Elastic skin, hypermobility of joints
Ehler Danlos syndromes (colalgen defect, usually type III)

Type III collagen(Reticulin) -- early granulation tissue, blood vessels
Enlarged, hard left supraclavicular node
Virchow's node(abdominal metastasis)
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Sezary syndrome (Cutaneous T-cell lymphoma) or mycosis fungoides
Facial muscle spasm upon tapping
Chvostek's sign(hypocalcemia)
Fat, female, forty, fertile
Acute cholelithiasis
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction -- rapid lysis of spirochete results in toxin release
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles(Paramyxovirus-Morbillivirus)
Fever, night sweats, weight loss
B cell lymphoma symptoms
Fibrous plaques in soft tissue of penis
Peyronie's Disease
Gout, mental retardation, self-mutilating behavior in boy
Lesch-Nyhan Syndrome (HGPRT deficiency, X-linked) - Decreased purine salvage
Green-yellow rings around peripheral cornea
Kayser-Fleisher Rings - copper accumulation from Wilson's disease
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers Syndrome(genetic benign polyposis can cause bowel obstruction; increase cancer risk)
Hepatosplenomegaly, osteoporosis, neurologic symptoms(mostly in type II)
Gaucher's disease (glucocerebrosidase deficiency)
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport's syndrome(Type IV collagen mutation)
Hypercoagulability (leading to migrating DVTs and vasculitis)
Trousseau's Sign (adenocarcinoma of pancreas or lung)
Hyperphagia, Hypersexuality, Hyperorality, Hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
Hypertension, Hypokalemia, metabolic alkalosis
Conn's Syndrome(primary hyperaldosteronism)
Hypoxemia, polycythemia, hypercapnia
Diffusion disorder - "Blue Bloater" from chronic bronchitis leading to hyperplasia of mucous cells
Indurated, ulcerated genital lesion
Nonpainful: chancre(Primary syphilis from Treponema Pallidum, a spirochete)
Painful, with exudate: chancroid(Haemophilus Ducreyi)
Infant with failure to thrive, hepatosplenomegaly, neurodegeneration
Niemann-Pick disease(genetic sphingomyelinase deficiency)
Infant with hypoglycemia, failure to thrive and hepatomegaly
Cori's disease(debranching enzyme deficiency)
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edward's Syndrome(Trisomy 18)
Jaundice, RUQ pain, fever
Charcot's Triad(ascending cholangitis)
Keratin pearls on a skin biopsy
Squamous cell carcinoma(lung or cervix)
Large rash with bull's-eye appearance
Erythema chronicum migrans from Ixodes tick bite(Lyme Disease: Borrelia)
Lucid interval after traumatic bgrain injury
Epidural hematoma(middle meningeal artery rupture)
Male child, recurrent infections, no mature B cells
Bruton's disease(X-linked agammaglobulinemia)
Mucosal bleeding and prolonged bleeding time
Glanzmann's Thrombasthenia(defective platelet aggregation due to lack of GP IIb/IIIa)
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner's Syndrome(subtype of FAP)
Necrotizing vasculitis(lungs), and necrotizing glomerulonephritis
Wegener's(c-ANCA) and Goodpastures(anti-basement membrane antibodies)
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('other' Charcot's Triad), bilateral internuclear ophtalmoplegia
Multiple Sclerosis
Oscillating slow/fast breathing
Cheyne-Stokes respirations(Central apnea in CHF or increased intracranial pressure)
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease(autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mono(EBV))
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 erythematous lesions on palms and solesd
Janeway lesions(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)
Polyostic Fibrous dysplasia, precocious puberty, cafe au lait spots, short stature in a girl
McCune Albright syndrome
"currant jelly" stool
intussusception
Rusty colored sputum
Strep Pneumoniae
Pink complexion, dyspnea, hyperventilation
"pink puffer"
emphysema: centroacinar[smoking], panacinar[alpha 1 antitrypsin deficiency])
Polyuria, acidosis, growth failure, electrolyte imbalances
Fanconi's Syndrome(proximal tubular reabsorption defect)
Positive anterior "drawer's sign"
Anterior cruciate ligament injury
Ptosis, miosis, anhidrosis
Horner's Syndrome(sympathetic chain lesion) (pancoast's tumor of the lung)
Pupil accommodates but doesn't react
Argyll Robertson pupil(neurosyphilis)

Prostitute's pupil
Rapidly progressive leg weakness that ascends(following GI/upper respiratory infection), ascending motor paralysis
Guillain-Barre syndrome
autoimmune acute inflammatory demyelinating polyneuropathy
rash on palms and soles
secondary syphilis, rocky mountain spotted fever, coxackievirus A(hand, foot mouth disease)
recurrent colds, unusual eczema(TRUNKAL vs flexor), high serum IgE
Job's syndrome(hyper-IgE syndrome: neutrophil chemotaxis abnormality)
Red "currant jelly" sputum in alcoholic or diabetic patients
Klebsiella pneumoniae
red, itchy, swollen rash of nipple/areola
Paget's disease of the breast(represents underlying neoplasm)
Red urine in the morning, fragile RBC's
Paroxysmal Nocturnal Hemoglobinuria
lack of CD55/CD59 DAF/MIRL
Renal Cell carcinoma, hemangioblastomas, angiomatosis, pheochromocytoma
Von-Hippel Lindau disease(dominant tumor suppressor gene mutation)
Resting tremor, rigidity, akinesia, postural instability
Parkinson's disease(nigrostriatal dopamine depletion)
Restrictive cardiomyopathy(juvenile form: cardiomegaly), exercise intolerance
Pompe's disease(lysosomal glucosidase deficiency)
Retinal hemorrhages with pale centers
Roth's spots(bacterial endocarditis)
Severe jaundice in neonate
Crigler-Najjar syndrome(congenital unconjugated hyperbilirubinemia)
Severe RLQ pain with rebound tenderness
McBurney's sign(appendicitis)
Short stature, increased incidence of tumors/leukemia, aplastic anemia
Fanconi's Anemia(genetically inherited; often progresses to AML)
defective DNA repair
Single Palm crease
Simian crease(down Syndrome)
Situs inversus, chronic sinusitis, bronchiectasis
Kartagener's Syndrome
Dynein defect in cilia
Skin hyperpigmentation
Addison's disease(primary adrenocortical insufficiency 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 white centers
Koplik spots(measles) - Cough, coriza, conjunctivitis, Koplik spots
Smooth, flat, moist white lesions on genitals
Condyloma Lata(secondary syphilis)
Splinter hemorrhages on fingernails
bacterial endocarditis
"strawberry tongue"
Scarlet fever, Kawasaki disease, toxic shock syndrome
Streak ovaries, congenital heart disease(coarctation of aorta), horseshoe kidney
Turner Syndrome(XO, short stature, webbed neck, lymphedema)
Sudden swollen/painful big toe joint, tophi
Gout/podagra(hyperuricemia)
Swollen gums, mucous blereding, poor wound healing, spots on skin
Scurvy(vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
Swollen, hard, painful finger joints
Osteoarthritis(osteophytes on PIP[bouchard's nodes], DIP [Heberden's nodes])
Systolic ejection murmur(crescendo-decrescendo)
Aortic valve stenosis
Medullary carcinoma of Thyroid and parathyroid tumors, pheochromocytoma
Sipple's syndrome(MEN 2A)
Toe extension/fanning upon plantar scrape
Babinski's sign(UMN lesion)
unilateral facial dropping involving forehead
BEll's palsy(LMN CN VII palsy)
urethritis, conjunctivitis, arthritis in a male
Reiter's syndrome(reactive arthritis associated with HLA-B27)
"Can't see, can't pee, can't climb a tree"
Vascular birthmark(port-wine stain)
Hemangioma(benign, but a/w Sturge-Weber syndrome)--stays forever
Vasculitis from exposure to endotoxin causing glomerular thrombosis
Shwartzman reaction(following second exposure to endotoxin0
Vomiting blood following esophagogastric lacerations
Mallory-Weiss syndrome(alcoholic and bulimic patients)
(made by renal tubule)"Waxy" casts with very low urine flow
chronic end stage renal disease
WBC casts in urine
Acute pyelonephritis
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple's disease(Tropheryma Whippelii)
"worst headache of my life"
subarachnoid hemorrhage secondary to a berry aneurysm
Bilateral facial drooping involving forehead
Guillain Barre Syndrome or lyme disease(borrelia borgdorferi)
WBC's in urine(NO CASTS)
cystitis