Rapid Fire Facts Flashcards
Most common cause of neural tube defects
Folate deficiency
Most common cause of congenital malformations
Alcohol use
Most common cause of mental retardation in US
Fetal Alcohol Syndrome
Hyperflexible joints, arachnodactyly, aortic dissection, lens dislocation
Marfan’s syndrome (Fibrillin defect)
Hereditary nephritis, cataracts, sensorineural hearing loss
Alport syndrome (Collagen IV defect)
Blue sclera, bone fractures
Osteogenesis imperfecta (mutation in alpha chain of collagen type I, hydroxylation defect)
Antibodies against presynaptic Calcium channels at NMJ
Lambert-Eaton myasthenic syndrome
Most common adrenal tumor
Benign, non-functioning adrenal adenoma
Most common tumor of adrenal medulla in adults
Pheochromocytoma
Most common tumor of adrenal medulla in kids
Neuroblastoma
Most common cause of primary hyperaldosteronism
Adrenal adenoma
Medical treatment for hyperaldosteronism
Spironolactone, Eplerenone
Medical treatment for pheochromocytoma
Phenoxybenzamine (non selective alpha blocker)
Pheochromocytoma, medullary thyroid cancer, hyperparathyroidism
MEN2A
Pheochromocytoma, medullary thyroid cancer, mucosal neuroma
MEN2B
Adrenal disease with skin hyperpigmentation
Primary adrenal insufficiency: Addison’s
HTN, hypokalemia, metabolic alkalosis
Hyperaldosteronism; Conn’s syndrome
Painless jaundice
Pancreatic cancer
Most common cause of acute pancreatitis
Gallstones and alcohol
Most common cause of chronic pancreatitis
Alcohol abuse
Severe hyperbilirubinemia in neonate
Crigler-Najjar type I
Mild benign hyperbilirubinemia
Gilbert syndrome
TG accumulation in hepatocytes
Fatty liver disease
Eosinophilic inclusions in cytoplasm of hepatocytes
Mallory bodies