High prevalence of the very rare wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): A genetic and clinical study

Luis García‐Villarreal, Susan Daniels, Sarah H. Shaw, David Cotton, Margaret Galvin, Jeanne Geskes, Paula Bauer, Angel Sierra‐Hernández, Alan Buckler, Antonio Tugores – 30 December 2003 – The molecular basis of Wilson disease (WD), an autosomal recessive disorder, is the presence of mutations in the ATP7B gene, a copper transporting ATPase.

No significant correlation exists between core promoter mutations, viral replication, and liver damage in chronic hepatitis B infection

Yoon Keun Chun, Jee Youn Kim, Hong Jung Woo, Soo Myung Oh, Insug Kang, Joohun Ha, Sung Soo Kim – 30 December 2003 – Hepatitis B virus (HBV) core promoter mutants have been proposed to contribute to severe liver damage by increasing viral loads, but this has not yet been clearly shown. To examine the effects of core promoter mutants on viral load and liver damage, we first developed a polymerase chain reaction (PCR)‐based semiquantitative HBV DNA detection method with a high sensitivity (able to detect as low as 103 molecules/mL).

p73 Is up‐regulated in a subset of hepatocellular carcinomas

Nirmitha I. Herath, Michael C. Kew, Vicki L. Whitehall, Michael D. Walsh, Jeremy R. Jass, Kum Kum Khanna, Joanne Young, Lawrie W. Powell, Barbara A. Leggett, Graeme A. Macdonald – 30 December 2003 – Loss of heterozygosity (LOH) at 1p36 occurs in a number of solid tumors including hepatocellular carcinoma (HCC). Recently, a novel gene, p73, has been identified at 1p36.33. p73 is structurally and functionally related to p53 located at 17p13.1, which is a target for inactivation in HCCs.

Local arterial vasoconstriction induced by octreotide in patients with cirrhosis

Rajaa Chatila, Lisa Ferayorni, Tarun Gupta, Roberto J. Groszmann – 30 December 2003 – Peripheral vasodilation initiates the hyperdynamic circulation in cirrhosis. Somatostatin and its analogues, such as octreotide, have a vasoconstrictive effect in cirrhotic patients and experimental animals with portal hypertension. The exact mechanism of octreotide‐induced vasoconstriction remains unknown.

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