Refined /B
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| Indications for CXR in toxicology? | CHIPES: Ca, chlorinated hydrocarbons, Heavy metals (lead, mercury), Iron, Iodine, Phenothiazines, potassium, Enteric coated pills, Solvents (halogenated)
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| Toxicology: Blisters with | barbiturates, carbon monoxide poisoning
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| Toxicology: Presentation may be with seizures: | INH, TCA, anticholinergics, cholinergics, sympathomimetics, propranolol, stimulants, bupropion (anxiolytic and used for smoking quit)
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| Emergency dialysis indication? | HEMODIALYS: HTN; Electrolytes (K, H, Mg, Ca, …); Mediastinum (pericarditis); Overload (pulmonary edema); Drugs: INH, Alcohol, Lithium, theophYlline, Salicylates
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| Toxicology: Urine alkalinization indication? | Major ones are: TARL: TCA, ASA, Rhabdomyolysis, Lead
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| Toxicology: Gastric lavage indications? | FACT: Fe (and other metals), ASA, Colchicine, TCA
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| Missing points in: Alkaptonuria? Maple syrup urine disease? Barter disease? PKU? Refsum? Galactosemia? | Alkaptonuria: arthritis; Maple syrup urine dis: pancreatitis, ketoacidosis and opisthotonus; Barter: hypophosphatemic ricketes; PKU: musty odor and eczema; Refsum: ataxia and scaly skin; Galactosemia: Ovarian failure
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| Hurler syndrome pathophysiology? | deficiency of alpha-L iduronidase (most common form of mucopolysaccharidosis)
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| Hurler syndrome (aka: mucopolysaccharidosis type I) features? | Facial deformities, dwarfism (also in achondroplasia), severe bodily and skeletal changes, mental retardation, cloudy corneas, deafness (also in Alport), cardiovascular defects, hepatosplenomegaly, and joint contractures
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| Achondroplasia pathophysiology and features? | A point mutation in the gene coding for FGF-receptor 3; Most common cause of significant dwarfism
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| McCune-Albright syndrome Pathophysiology: | somatic mutations in the c-fox gene
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| McCune-Albright syndrome features: | unilateral skin hyperpigmentation (cafe-au-lait spots) with multifocal fibrous dysplasia on the same side and precocious puberty + multiple endocrinopathies
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| Fabry disease features | x-linked recessive lipid storage disease; burning extremity pain, multiple angiokeratomas on the lower half of body, corneal opacities, and involvement of kidneys, heart, and brain.
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| Tangier Disease pathophysiology? | Familial disorder of alpha lipoprotein deficiency
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| Gaucher disease pathophysiology? | AR; Deficiency of the enzyme glucocerebrosidase and progressive accumulation of glucocerebroside within lysosomes of the histiocytes (pathogonomic: "crumpled-silk" histiocytes)
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| Glycogen Storage Disease Type I etiology and features? | Deficiency of glucose-6-phosphatase: inability of liver to provide glucose from glycogen during fasting: hypoglycemia; lactic acidosis; hypertriglyceridemia; hyperuricemia
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| Glycogen Storage Disease Type II etiology and features? | Acid maltase def.; No hypoglycemia and no hyperlipidemia but heart failure; death by age 2
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