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D A Piccoli

Publications and source records attributed to D A Piccoli.

46 records · Page 3Linked to original sources
PubMed1994

Cytologically balanced t(2;20) in a two-generation family with alagille syndrome: cytogenetic and molecular studies.

Alagille syndrome is a clinically defined, dominantly inherited disorder affecting the liver, heart, face, eye, and vertebrae. Alagille syndrome has previously been localized to the short arm of chromosome 20, on the basis of reports of a small number of patients with chromosomal deletions of 20p. We undertook a cytogenetic study of patients with Alagille syndrome and identified a family in which a cytologically balanced translocation between chromosomes 2 and 20, 46,XX/XY, t(2;20)(q21.3;p12), is segregating concordantly with the disease. The breakpoint on chromosome 20p in this t(2;20) is consistent with the shortest region of overlap demonstrated in the reported deletion patients. This is the first report of a translocation associated with 20p and Alagille syndrome, and this rearrangement confirms the location of the Alagille disease gene at 20p12. We have established a somatic cell hybrid from a lymphoblastoid cell line from one of the affected individuals that contains the derivative chromosome 20 (20qter-->p12::2q21.3-->qter) but not the derivative chromosome 2, the normal chromosome 2, or the normal chromosome 20. Southern blot and PCR analysis of probes and sequences from 20p have been studied to define the location of the translocation breakpoint. Our results show that the breakpoint lies distal to D20S61 and D20S56 within band 20p12.

Alagille Syndrome↗
PubMed1990

Site of reovirus replication in liver is determined by the type of hepatocellular insult.

Reovirus type 1 strain Lang is restricted from replicating in adult murine livers. In noninjured livers, approximately 1% of hepatocytes express reovirus antigen during infection. However, hepatocytes can be induced to express reovirus antigen if challenged with either toxins or trauma. We used selective hepatotoxins or surgical trauma to demonstrate that reovirus antigen localization in liver is determined by the site of hepatocellular insult and the timing of the virus inoculum.

Animals↗
PubMed1990

Synergism between hepatic injuries and a nonhepatotropic reovirus in mice. Enhanced hepatic infection and death.

Reovirus type 1, after intravenous inoculation in the adult mouse, is secreted via bile into the intestine in an infectious form. Although reovirus type 1 is rapidly removed from systemic circulation by the liver and the lung, very few hepatocytes express reovirus antigen during infection. In intestinal cells, reovirus replicates selectively in the crypts. This site preference may be due to active cell proliferation in the crypts. We hypothesized that the state of the cell may affect virus replication and tested this hypothesis by using chemical and surgical means to increase hepatic mitotic activity. Adult mice were treated with carbon tetrachloride or surgical trauma, inoculated with reovirus type 1 intravenously, and subsequently killed. Virus antigen was identified using a highly specific immunohistochemical technique. Liver sections were stained using immunoperoxidase with specific rabbit antireovirus antibody. Hepatotoxin and surgical trauma increase reovirus antigen detection in both Kupffer cells and hepatocytes. Only the sequential administration of CCl4 and virus caused mortality at doses sublethal for each alone. These data demonstrate a synergism between hepatic injury and reovirus which results in a significant increase in the magnitude of viral infection and contributes to mortality. Such synergism may be important in idiopathic liver disease.

Animals↗
PubMed1988

HIV as a cause of giant cell hepatitis.

The 9-month-old daughter of human immunodeficiency virus (HIV)-seropositive parents presented with cholestasis and was found on liver biopsy to have giant cell hepatitis. No viral inclusions or particles were seen by light or electron microscopy. Ultrastructural studies of the liver biopsy demonstrated tubuloreticular structures in the endothelium and cylindrical confronting cisternae in inflammatory cells in the portal tracts. Serologic studies for hepatitis B, hepatitis A, and Epstein-Barr viruses were negative. Cytomegalovirus (CMV) was cultured from the urine, but buffy coat, nasopharyngeal, and liver cultures were negative and CMV antibody titer was low. The hepatitis responded dramatically to prednisone therapy. A repeat biopsy several months later revealed similar morphologic findings. AIDS was suspected on clinical and immunologic grounds, and was confirmed by the demonstration of HIV-specific IgG and IgM in serum. Five months after initial presentation, the infant developed Pneumocystis pneumonia, disseminated CMV infection, and died. This appears to be the first reported association of infantile giant cell hepatitis with HIV infection.

Acquired Immunodeficiency Syndrome↗
PubMed1983

Transfusion-acquired Plasmodium malariae infection in two premature infants.

Several diseases can be transmitted to infants via transfusion. The risk of acquiring an infection via transfusion is greatly increased in sick premature infants because they receive frequent transfusions. The full-term infant is not fully competent immunologically, and the premature infant is even less able to deal with infection. Ideally, the transfusion of infected blood, especially into immunoincompetent recipients, should not occur. However, because screening for malaria in nonendemic regions is not practical, physicians caring for sick premature babies should consider transfusion-acquired malaria as a possible cause of illness, especially when there is no response to antibacterial therapy.

Blood Donors↗
PubMedDate not supplied

Medium-chain and long-chain acyl CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome.

The clinical and pathologic findings in 12 patients with medium-chain acyl CoA dehydrogenase deficiency and three patients with long-chain acyl CoA dehydrogenase deficiency are summarized. Although these inborn errors of intramitochondrial beta-oxidation of fatty acids present with similar findings to Reye's syndrome, there are clinical, laboratory and hepatic histologic differences. Younger age at presentation, history of unexplained sibling death, a previous episode of lethargy, hypoglycemia or acidosis precipitated by fasting stress and only mildly elevated serum transaminases with normal or only mildly prolonged prothrombin time may all suggest an acyl CoA dehydrogenase deficiency. Long-chain acyl CoA dehydrogenase deficiency is differentiated from medium-chain acyl CoA dehydrogenase deficiency by younger age at presentation, more profound cardiorespiratory depression, evidence of cardiomyopathy, and sequelae of muscle weakness, hypotonia and developmental delay. Definitive diagnosis is made by assay of medium-chain or long-chain enzyme activity in cultured skin fibroblasts or in leukocytes. Hepatic light microscopic alterations are essentially limited to steatosis, which may be either macro- or microvesicular. The cases with microvesicular steatosis can be differentiated morphologically from Reye's syndrome by electron microscopy, showing the absence of the mitochondrial changes characteristic of Reye's. Four of seven cases of acyl CoA dehydrogenase deficiency showed some variations from normal in the appearance of the hepatocyte mitochondria. The relationship of these variations to the basic metabolic defect(s) remains to be determined.

Acyl Coenzyme A↗
PubMedDate not supplied

Bile canalicular morphometry in arteriohepatic dysplasia.

The diagnosis of arteriohepatic dysplasia may be difficult, particularly in very young patients with no family history, and the pathogenesis of the disorder remains obscure. It has been reported that the typical ultrastructural changes of cholestasis are scant in this condition and proposed that there is a failure of the hepatocytes to secrete bile into the canaliculi. In an attempt to expand on these observations and to test the value of ultrastructure as a differential diagnostic test for this condition, we chose two parameters felt to be associated with cholestasis that could be reliably and relatively simply determined by ultrastructural morphometry: canalicular dilatation and loss of canalicular microvilli. The values for these parameters were compared in arteriohepatic dysplasia with those in other infantile cholestatic conditions and with those in noncholestatic controls. The results of these morphometric studies corroborated the previous observation that canalicular dilatation in arteriohepatic dysplasia is minimal. There was, however, only a marginal difference in canalicular area between patients with arteriohepatic dysplasia and those with extrahepatic biliary atresia. There was significant overlap of values for canalicular area among all groups. Surprisingly, the studies showed no real loss of canalicular microvilli in any of the cholestatic conditions. The findings suggest that, at least for these two parameters, caution should be exercised in using qualitative electron microscopic evaluation as a diagnostic test for arteriohepatic dysplasia.

Bile Canaliculi↗