Gilbert Disease

Jul 8, 2016 by in PATHOLOGY & LABORATORY MEDICINE Comments Off on Gilbert Disease

Gilbert Disease Joseph Misdraji, MD Key Facts Terminology Inherited unconjugated hyperbilirubinemia due to mutation of promoter of UGT1A1 gene Etiology/Pathogenesis Decreased transcription of UGT1A1 gene results in decreased conjugation of…

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Dubin-Johnson Syndrome

Jul 8, 2016 by in PATHOLOGY & LABORATORY MEDICINE Comments Off on Dubin-Johnson Syndrome

Dubin-Johnson Syndrome Joseph Misdraji, MD Key Facts Etiology/Pathogenesis Mutations in CMOAT/MRP2/ABCC2 gene causes impaired biliary transport of conjugated bilirubin Clinical Issues Chronic or intermittent jaundice Isolated conjugated hyperbilirubinemia Onset usually…

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Caroli Disease

Jul 8, 2016 by in PATHOLOGY & LABORATORY MEDICINE Comments Off on Caroli Disease

Caroli Disease Joseph Misdraji, MD Key Facts Terminology Congenital segmental dilatation of intrahepatic bile ducts Caroli syndrome when associated with congenital hepatic fibrosis Clinical Issues Characterized by cholangitis, hepatolithiasis, abscess,…

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Fibrous Obliteration

Jul 8, 2016 by in PATHOLOGY & LABORATORY MEDICINE Comments Off on Fibrous Obliteration

Fibrous Obliteration Scott R. Owens, MD Key Facts Terminology Fibrosing process → loss of normal mucosal and lymphoid structures, may occlude appendiceal lumen Etiology/Pathogenesis Many associated with neural proliferations Clinical…

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Cryptosporidium

Jul 8, 2016 by in PATHOLOGY & LABORATORY MEDICINE Comments Off on Cryptosporidium

Cryptosporidium Laura Webb Lamps, MD Key Facts Etiology/Pathogenesis Cryptosporidium parvum causes diarrhea in healthy as well as immunocompromised children Transmitted by person-to-person contact or ingestion of contaminated food/water Clinical Issues…

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Acute Rheumatic Fever

Jul 8, 2016 by in PATHOLOGY & LABORATORY MEDICINE Comments Off on Acute Rheumatic Fever

Acute Rheumatic Fever Monica P. Revelo, MD, PhD Dylan V. Miller, MD Key Facts Terminology Acute, immunologically mediated, multisystemic inflammatory disease occurring a few weeks after an episode of pharyngeal…

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Mitochondrial Myopathies

Jul 8, 2016 by in PATHOLOGY & LABORATORY MEDICINE Comments Off on Mitochondrial Myopathies

Mitochondrial Myopathies Monica P. Revelo, MD, PhD Dylan V. Miller, MD Key Facts Terminology Heterogeneous group of maternally inherited diseases resulting from dysfunction in mitochondrial DNA-encoded gene products Microscopic Pathology…

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Glycogen Storage Disease

Jul 8, 2016 by in PATHOLOGY & LABORATORY MEDICINE Comments Off on Glycogen Storage Disease

Glycogen Storage Disease Monica P. Revelo, MD, PhD Key Facts Terminology Inherited autosomal recessive disorders due to deficiency in lysosomal enzymes resulting in glycogen accumulation that causes cellular dysfunction and…

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Endocardial Fibroelastosis

Jul 8, 2016 by in PATHOLOGY & LABORATORY MEDICINE Comments Off on Endocardial Fibroelastosis

Endocardial Fibroelastosis Monica P. Revelo, MD, PhD Key Facts Terminology Porcelain-like thickening of ventricular endocardium by layers of collagen and elastic fibers Etiology/Pathogenesis Endocardial fibroelastosis (EFE) should be regarded as…

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