NASH

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

NASH Matthew M. Yeh, MD, PhD Key Facts Etiology/Pathogenesis Associated conditions Diabetes Obesity Hyperlipidemia Dyslipidemia Drugs Malabsorption, malnutrition Clinical Issues Patients often have metabolic syndrome Transaminases usually elevated Microscopic Pathology…

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Venoocclusive Disease

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

Venoocclusive Disease Sanjay Kakar, MD Key Facts Etiology/Pathogenesis Stem cell transplantation and high-dose chemotherapy Sinusoidal endothelial cell injury is important initial event Clinical Issues Hyperbilirubinemia, weight gain, and painful hepatomegaly…

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Glycogen Storage Diseases

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

Glycogen Storage Diseases 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…

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Idiopathic Neonatal Hepatitis

Jul 8, 2016 by in PATHOLOGY & LABORATORY MEDICINE Comments Off on Idiopathic Neonatal Hepatitis

Idiopathic Neonatal Hepatitis Grace E. Kim, MD Key Facts Terminology Convenient term for clinical condition manifested by prolonged jaundice in neonates with variable but definable histologic picture Microscopic Pathology Predominately…

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Neonatal Hemochromatosis

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

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…

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Gaucher Disease

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

Gaucher Disease Grace E. Kim, MD Key Facts Etiology/Pathogenesis Accumulation of glucocerebroside in phagocytic cells Autosomal recessive trait with mutation in acid β-glucosidase gene, GBA Clinical Issues Primarily involves liver,…

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Tyrosinemia

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

Tyrosinemia Grace E. Kim, MD Key Facts Etiology/Pathogenesis Mutations in fumarylacetoacetate hydrolase gene on 15q23-q25 Fumarylacetoacetate hydroxylase deficiency Clinical Issues Elevated plasma and urine succinylacetone Many patients have renal tubular…

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