Porphyrin Metabolism Disorders Joseph Misdraji, MD Key Facts Terminology Heterogeneous group of inherited and acquired disorders of heme biosynthesis PCT and EP are associated with hepatic pathology Etiology/Pathogenesis Sporadic PCT…
Dubin-Johnson Syndrome Joseph Misdraji, MD Key Facts Etiology/Pathogenesis Mutations in cMOAT/MRP2 gene causes impaired biliary transport of conjugated bilirubin Clinical Issues Chronic or intermittent jaundice, precipitated by pregnancy or oral…
Neonatal Hemochromatosis Matthew M. Yeh, MD, PhD Key Facts Clinical Issues Intrauterine growth retardation, oligohydramnios, stillborn or premature birth Liver and multiorgan failure Abnormal iron studies Macroscopic Features Shrunken liver…
Glycogen Storage Disease Grace E. Kim, MD Key Facts Etiology/Pathogenesis Inborn error of carbohydrate metabolism caused by gene mutations in proteins involved in glycogen synthesis, degradation, or regulation Results in…
Tyrosinemia Grace E. Kim, MD Key Facts Terminology Synonym: Tyrosinemia, type I Etiology/Pathogenesis Mutations in fumarylacetoacetate hydrolase gene on 15q23-q25 Fumarylacetoacetate hydroxylase deficiency Clinical Issues Elevated plasma and urine succinylacetone…
Protocol for the Examination of Thyroid Gland Specimens Lester D. R. Thompson, MD Examination of Thyroid Gland Carcinoma Specimens Resection Procedure _ _ _Thyroid lobectomy _ _ _Right _ _…
Squamous Cell Carcinoma Lester D. R. Thompson, MD Key Facts Terminology Thyroid primary squamous cell carcinoma is composed entirely of squamous cells without mucocytes and without direct invasion from adjacent…
Antibody Index Antibodies Discussed Antibody Name/Symbol Antibody Description Clones/Alternative Names α-1-antichromotrypsin alpha 1 antichromotrypsin A1ACT α-1-antitrypsin alpha 1 antitrypsin A1AT α-amylase alpha amylase A-amylase α-fetoprotein alpha 1 fetoprotein AFP, Z5A06,…
Undifferentiated (Anaplastic) Carcinoma Lester D. R. Thompson, MD Key Facts Terminology Highly aggressive malignancy of undifferentiated cells Etiology/Pathogenesis Preexisting benign or malignant thyroid disease in nearly all cases, with transformation…
