Rapid Review High Yield Flashcards
“adrenal hemorrhage, hypotension, DIC”
Waterhouse Friedrichsen syndrome
“anaphylaxis following blood transfusion”
IgA deficiency
“Arachnodactyly, les=ns discoloration, aortic dissetion, hyperflexible joints”
marfan syndrome
“bilateral acoustic schwannomas”
NF2
“bilateral adenopathy, uveitis”
Sarcoidosis (nocaseating granulomas)
“bluish line on gingiva”
Burton line (lead poisoning)
“bone pain, bone enlargement, arthritis”
paget disease of the bone
“bounding pulses, diastolic murmur, head bobbing”
aortic regurgitation
“cafe-au-lait spots (unilateral), polystotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities”
McCune- Albright syndrome (mosaic G proteins signaling mutation)
What type of mutation is DMD?
X linked recessive fraeshift mutation of dystrophic gene
“cervical LAD, desquamating rash, coronary aneurysms, red conjunctiva and tongue:”
Kawasaki disease (treat with IVIG and aspirin)
“chest pain pericardial effusion/ friction rub, persistent fever following MI”
Dressler syndrome (autoimmune mediated post MI fibrinous pericarditis, 2-12 weeks after acute episode)
“chest pain with ST depressions on EKG”
Unstable angina (troponin -)
NSTEMI (toponin +)
“chorea, dementia, caudate degeneration”
Huntingtons disease–> CAG repeat expansion
What enzyme is deficient in McArdle disease?
Skeletal muscle glycogen phosphorylase deficeiccny
“conjugate horozontal gaze palsy, horizontal diplopia”
Internuclear opthalmoplegia (damage to MLF–> may be unilateral or bilateral
“deep, labored breathing/ hyperventilation”
Kussmaul respiration (diabetic ketoacidosis)
“type V collagen defect or type III collagen defect”
Ehlers- Danlos sndrome
“episodic vertigo, tinnitis, hearing loss”
Meniere disease
“erythroderma, LAD, hepatosplenomegaly, atypical T cells”
Mycosis fungoides (cutaenous T- cell lymphoma)
Sezary syndrome (mycosis fungoides + malignant T cells in blood)
“fever, night sweats, weight loss”
B symptoms (staging) of lymphoma
“fibrous plaques in soft tissue of penis with abnormal curvature”
Peyronie disease (connective tissue disorder)
“hamartous GI polyps, hyperpigmentation of mouth/ hands/ feet/ genitalia”
Peutz- Jeghers syndrome
inherited, benign polyposis that can cause bowel obstruction and increase risk of GI cancer
“hepatosplenomegaly, pancytopenia, osteoporosis, aspetic necrosis of femur, bone crisis”
Gaucher disease (glucocerebrosidase deficiency)
“hereditary nephritis, sensorineuronal hearing loss, cataracts”
Alport syndrome
“hyperphagia, hypersexuality, hyperorality hyperdocility”
Kluver- Bucy syndrome (bilateral amygdala lesion)
“hypoxemia, polycythemia, hypercapnia”
“blue bloater” (chronic bronchitis; hyperplasia of mucous cells)
“indurated, ulcerated genital lesion”
Nonpainful–> syphilis (primary)
Painful–> hancroid (H. ducreyi)
“infant with cleft lip/ cleft palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia”
Patau syndrome (trisomy 13)
“Infant with hypoglycemia, hepatomegaly–> 2 different diseases”
Cori disease (debranching enzyme deficiency)
Von Gierke disease (G6Pase deficiecy, more severe)
“infant with microcephaly rocker-bottom feet, clenched hands, and structural heart defect”
Edwards Syndrome (Trisomy 18)
“lucid window after traumatic brain injury”
Epidural hemaatoma (middle meningeal artery rupture)
“mucosal bleeding and prolonged bleeding time”
Glanzmann thrombasthenia (defect in platelet aggregatino due to lack of GpIIa/ IIIa
