Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The study documents the immunohistochemical features of a case of infantile hemangioendothelioma (IHE) of the liver, which was found incidentally at autopsy in a 44-day-old girl. A precardial apical systolic murmur and hepatomegaly were found on day 4 of life. The tumor was multifocal and histologically composed of vascular channels lined by endothelial cells that were positive for von Willebrand factor, CD31, vimentin, and Ulex europaeus agglutinin 1, and that were invested in a continuous basement membrane (BM) on the antiluminal border. The endothelial cells, especially in the region of intravascular buds, showed intracytoplasmic synthesis of BM components (laminin and collagen IV). Underlying the endothelial cells were cells with cytoplasm that was positive for alpha-smooth muscle actin and antimuscle actin and negative for desmin, and that were enveloped with BM. The immunophenotype, appearance, and location of these cells are characteristic of pericytes. We found neither signs of endocrine secretion nor hepatitis B virus in the tumor tissue. The appearance of this tumor in the neonatal period supports a fetal origin of IHE.
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PMID:Infantile hemangioendothelioma of the liver in a neonate. Immunohistochemical observations. 866 36

Cux-1 is a member of a family of homeobox genes structurally related to Drosophila Cut. Mammalian Cut proteins function as transcriptional repressors of genes specifying terminal differentiation in multiple cell lineages. In addition, mammalian Cut proteins serve as cell-cycle-dependent transcriptional factors in proliferating cells, where they function to repress expression of the cyclin kinase inhibitors p21 and p27. Previously we showed that transgenic mice expressing Cux-1 under control of the CMV immediate early gene promoter develop multiorgan hyperplasia. Here we show that mice constitutively expressing Cux-1 exhibit hepatomegaly correlating with an increase in cell proliferation. In addition, the increase in Cux-1 expression in transgenic livers was associated with a decrease in p21, but not p27, expression. Within transgenic livers, Cux-1 was ectopically expressed in a population of small cells, but not in mature hepatocytes, and many of these small cells expressed markers of proliferation. Transgenic livers showed an increase in alpha-smooth muscle actin, indicating activation of hepatic stellate cells, and an increase in cells expressing chromogranin-A, a marker for hepatocyte precursor cells. Morphological analysis of transgenic livers revealed inflammation, hepatocyte swelling, mixed cell foci, and biliary cell hyperplasia. These results suggest that increased expression of Cux-1 may play a role in the activation of hepatic stem cells, possibly through the repression of the cyclin kinase inhibitor p21.
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PMID:Hepatomegaly in transgenic mice expressing the homeobox gene Cux-1. 1581 24

Premature infants with intrauterine growth restriction (IUGR) are at greater risk for an adverse perinatal outcome. IUGR affects hepatocyte function, but the histopathological changes in the postnatal liver are not well known. We report a male infant with severe IUGR. His mother was transferred to our hospital at 26 weeks of gestation because of preterm labor and severe IUGR. An emergency cesarean section was carried out because of a non-reassuring fetal status. The birth weight of the infant was 332 g. He showed congestive heart failure and marked hepatomegaly from birth. After 1 week, blood examinations showed hyperbilirubinemia with high direct bilirubin. Because of liver dysfunction, he received the minimal total parenteral nutrition for 7 days. After 1 month, he progressively developed ascites and coagulopathy, and died 3 months after birth. Liver autopsy showed diffuse perisinusoidal fibrosis. Fibrosis was also prominent around the central vein. Immunohistochemical study revealed many alpha-smooth muscle actin-positive cells, which represent activated hepatic stellate cells, and a few transforming growth factor-beta1-positive cells in the perisinusoidal fibrotic area. These results indicate that the infant developed chronic (end stage) liver failure by 3 months of age. We excluded congenital infection, metabolic syndrome and citrin deficiency. It is therefore conceivable that intrauterine cardiac failure may be responsible for liver fibrosis. Early detection of liver dysfunction soon after birth is a key to predict the prognosis of severe IUGR in preterm infants.
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PMID:Liver fibrosis in an extremely small infant for gestational age. 2051 75