Rapid Review Presentations Flashcards
Abdominal pain, ascities, hepatomegaly
Budd-Chiari syndrome (post hepatic venous thrombosis)
Achilles tendon xanthoma
familial hypercholesterolemia (low LDL Recptor signaling)
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
marfans syndrome (fibrillin defect)
athelete with polycythemia
epo injections
back pain, fever, night sweats, weight loss
Pott’s Disease (vertebral TB)
bilateral hilar adenopathy, uveitis
sarcoidosis
blue sclera
Osteogenesis inperfecta (type I collagen defect)
Bluish line on gingiva
Burton’s line (lead poisoning)
Bone pain, bone enlargment, arthritis
Paget’s disease of bone (high blast and clast activity)
Bounding pulses, diastolic heart murmor, head bobbing
aortic regurg
Butterfly facial rash, raynaud’s phenomenon in a young female
SLE
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright syndrome (mosaic G-protein signaling mutation)
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
NFI (+pheo, optic gliomas)
Calf pseudohypertrophy
muscular dystrophy (more commonly Duchenne’s), X-linked recessive
Cherry-red spot on macula
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
chest pain on exertion
angina (moderate excersion induced = stable, minimal exercion = unstable)
chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler’s syndrome (autoimmune-mediated post-MI fibrinous pericarditis)
child uses arms to stand up from squat
gower’s sign, duchenne muscular dystrophy
child with fever later develops red rash on face that spreads to body
“slapped cheeks”. erythema infectiosum/fifth disease: parvovirus B19
Chorea, dementia, caudate degeneration
Huntington’s diseaes (CAG repeat, Autodom)
chronic exercise intolerance with myalgia, fatigue, painful cramps, myglobinuria
McArdle’s disease (glycogen phosphorylase deficency)
cold intolerance
hypothyroidism
conjugate lateral gaze palsy, horizontal diplopia
internuclear opthalmoplegia (damage to the MLF. bilateral=MS, unilateral=stroke)
continuous machinery heart murmor
PDA (give indomethacin)
cutaneous/dermal edema due to connective tissue deposition
myxedema (hypothyroidism, or graves disease)
Dark purple skin/mouth nodules
Kaposi sarcoma (AIDS patients with HHV8)
deep labored breathing/hyperventilation
Kussmaul breathing (diabetic ketoacidosis sign)
dermatitis, dementia, diarrhea
Pellagra (niacin aka B3 deficiency)
dilated cardiomyopathy, edema, alcoholism or malnutrition
wet beriberi (thiamin aka B1 def)
dog or cat bite infxn
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 carcinoma) this is basically idiopathic inability to swallow + Fe deficency
Elastic skin, hypermobility of joints
Ehlers-Danlos syndrome (type III collagen defect)
enlarged and hard left supraclavicular node
abdominal metastasis. Virchow’s node
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, and fertile
cholelithiasis (gallstones)
Fever, chills, headache, myalgia following antibiotic treatment for syphillis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release, can be of any bacteria)
fever, cough, conjunctivitis, coryza, diffuse rash
Measles
fever, night sweats, weight loss
b symptoms (staging) lymphoma
fibrous plaques in soft tissue of penis
Peyronie’s disease (connective tissue disorder)
what step of collagen synthesis is defective in Ehlers-Danlos syndrome?
cross-linking
what is osteogenesis imperfecta?
“brittle bone disease” messed up type I collagen.
4 signs of osteogenesis imperfecta
- multiple fractures within minimal trauma
- blue sclera
- hearing loss (middle ear bones)
- dental imperfections due to lack of dentin
Alports syndrome collagen type and organ systems
4 collagen: kidney, ears, and eyes
gout, mental retardation, self-mutilation in a boy
Lesch-Nyhan syndrome (HGPRT deficency)
green-yellow rings around peripheral cornea
Kayser-Fleischer rings (coper accumulation in Wilson’s disease)