pathology Flashcards
trinucleotide-repeat mutations
🔹Huntington’s disease (CAG)
🔹myotonic dystrophy (CTG)
🔹friedreich’s ataxia (GAA)
🔹fragile x syndrome (CGG)
cardiac tamponade:
beck’s triad
🔹neck vein engorgement
🔹muffled heart sound
🔹hypotension
x-linked dominant disorders
🔹vitamin D- resistant (hypophosphatemic) rickets
🔹alport syndrome
differentiate marfan’s syndrome from ehlers-danlos syndrome:
marfan’s: (+) ectopic lentis and MVP, aortic dissection
triad of TB
🔹fever
🔹night sweats
🔹hemoptysis
x-linked recessive diseases
Bruton's agammaglobulinemia Wiskott-Aldrich syndrome Fabry's disease G6PD deficiency Ocular albinism Lesch-Nyhan syndrome Duchenne's muscular dystrophy Hunter syndrome Hemophilia
quadruple screen for Down syndrome
ACE i
⬇️ AFP, estriol
⬆️ bHCG, inhibin
DiGeorge Syndrome
CATCH-22
Cardiac defects Abnormal facies Thymic aplasia Cleft palate Hypocalcemia 22q11.2 deletion
primary inhibito
CNS - GABA
PNS - Glycine
wernicke encephalopathy
🔹ataxia
🔹confusion
🔹ophthalmoplegia
korsakoff syndrome
🔹confabulation
🔹hallucinations
🔹amnesia
embryologic remnant of umbilical arteries
mediaL umbilical ligament
embryologic remnant of umbilical vein
ligamentum teres hepatis
MEN I
3 Ps
pituitary lesions
parathyroid lesions
pancreas lesions
triad of pituitary apoplexy
🔹headache
🔹diplopia
🔹hypopituitarism
type I diabetes auto-antibodies
anti-insuli
anti-GAD
anti-ICA512
pheochromocytoma rule of 10s
10% extra-adrenal 10% bilateral 10% biologically malignant 10% not associated with hypertension 10-25% harbor a germline mutation
3 anatomic constrictions of the ureter
🔹ureteropelvic junction
🔹ureterovesical junction
🔹where they cross the iliac vessels
rescue therapy: methotrexate? cyclophosphamide? doxorubicin? cisplatin?
leucovorin (folinic acid)
mesna
dexrazoxane
amifostine
reiter syndrome
can’t pee - urethritis
can’t see - conjunctivitis
can’t climb a tree - arthritis
MELAS Syndrome
Mitochondrial Encephalopathy
Lactic Acidosis
Stroke-like episodes
only indications for giving ASA to children
kawasaki disease
juvenile rheumatoid arthritis
rheumatic fever
whipple’s disease triad
diarrhea
malabsorption
weight loss
hepatopulmonary syndrome triad
chronic liver disease
hypoxemia
intra-pulmonary vascular dilations
hemochromatosis triad
hepatomegaly
diabetes mellitus
bronze skin pigmentation
risk factors for acute pancreatitis
GET SMASHED
gallstones ethanol trauma steroids mumps autoimmune (PAN) scorpion sting hyperlipidemia/ hypercalcemia ERCP drugs (sulfa drugs)
Virchow’s triad
🔹endothelial injury
🔹hypercoagulability
🔹abnormal blood flow