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Refined /B

Indications for CXR in toxicology? CHIPES: Ca, chlorinated hydrocarbons, Heavy metals (lead, mercury), Iron, Iodine, Phenothiazines, potassium, Enteric coated pills, Solvents (halogenated)
Toxicology: Blisters with barbiturates, carbon monoxide poisoning
Toxicology: Presentation may be with seizures: INH, TCA, anticholinergics, cholinergics, sympathomimetics, propranolol, stimulants, bupropion (anxiolytic and used for smoking quit)
Emergency dialysis indication? HEMODIALYS: HTN; Electrolytes (K, H, Mg, Ca, …); Mediastinum (pericarditis); Overload (pulmonary edema); Drugs: INH, Alcohol, Lithium, theophYlline, Salicylates
Toxicology: Urine alkalinization indication? Major ones are: TARL: TCA, ASA, Rhabdomyolysis, Lead
Toxicology: Gastric lavage indications? FACT: Fe (and other metals), ASA, Colchicine, TCA
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
Hurler syndrome pathophysiology? deficiency of alpha-L iduronidase (most common form of mucopolysaccharidosis)
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
Achondroplasia pathophysiology and features? A point mutation in the gene coding for FGF-receptor 3; Most common cause of significant dwarfism
McCune-Albright syndrome Pathophysiology: somatic mutations in the c-fox gene
McCune-Albright syndrome features: unilateral skin hyperpigmentation (cafe-au-lait spots) with multifocal fibrous dysplasia on the same side and precocious puberty + multiple endocrinopathies
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.
Tangier Disease pathophysiology? Familial disorder of alpha lipoprotein deficiency
Gaucher disease pathophysiology? AR; Deficiency of the enzyme glucocerebrosidase and progressive accumulation of glucocerebroside within lysosomes of the histiocytes (pathogonomic: "crumpled-silk" histiocytes)
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
Glycogen Storage Disease Type II etiology and features? Acid maltase def.; No hypoglycemia and no hyperlipidemia but heart failure; death by age 2
Created by: Bijan39