C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the notch3 epidermal growth factor-like repeats. A Colombian kindred carries a novel C455R mutation located in the predicted ligand-binding domain. Stroke occurred in the patients at an unusually early age (median age: 31 years) in comparison to the more frequent onset in the fourth decade of life in other CADASIL populations, including a second Colombian kindred with an R1031C mutation.

Biliary obstruction: findings at MR cholangiography and cross-sectional MR imaging.

Twenty-two patients with malignant biliary obstruction and 21 patients with suspected obstruction of biliary-enteric anastomoses were evaluated over a 12-month period with magnetic resonance (MR) cholangiography and cross-sectional MR imaging. In patients with malignant obstruction, MR cholangiography helped accurately determine the status of the biliary ductal system by identifying the exact location and extent of the obstruction and the severity of duct dilatation. In so doing, MR cholangiography helped determine whether percutaneous transhepatic cholangiography with antegrade stent placement or retrograde cholangiography with stent placement constituted the more suitable treatment. Cross-sectional MR imaging was necessary to identify the organ of tumor origin, define the tumor margins, and determine the stage of disease. This information helped evaluate the appropriateness of curative surgical therapy versus palliative drainage procedures. In patients with biliary-enteric anastomoses, MR cholangiography clearly depicted the site of the anastomosis and demonstrated the status of the intrahepatic ducts, thereby helping determine which patients would benefit from undergoing antegrade duct cannulation with a drainage procedure or perhaps balloon dilation. In some of these patients, MR cholangiography was sufficient to help plan therapeutic intervention. MR cholangiography also demonstrates the presence and size of biliary stones and associated findings such as intraductal tumor growth. In addition, MR cholangiography may obviate retrograde cholangiography, which can be technically difficult to perform.

Hepatitis G virus infection in fulminant hepatic failure.

BACKGROUND: RNA sequences of the recently identified hepatitis GB virus C (HGBV-C), also named hepatitis G virus (HGV), have been detected in patients with idiopathic fulminant hepatic failure (FHF) but the role of this agent in the disease remains controversial. AIMS: To investigate the presence and implications of HGV infection in a large series of Spanish patients with FHF. PATIENTS: Sixty eight patients with FHF, including 19 with idiopathic disease, were studied. In 28 cases, studies were performed before and after liver transplantation. For comparison 200 volunteer blood donors and 22 patients transplanted for chronic liver disease were also studied. METHODS: HGV RNA was measured in serum by reverse transcriptase polymerase chain reaction of the 5' non-coding region. RESULTS: Evidence of HGV infection was found in 3% (6/200) of blood donors and in 19% (13/68) of patients with FHF. HGV infection was more frequent in patients with hepatitis B (24%, 6/25) or hepatitis D (42%, 5/12), than in patients with idiopathic disease (11%, 2/19). Half of the patients with HGV infection used illicit intravenous drugs. Specific clinical features associated with HGV infection were not identified. A very high rate of infection with HGV was observed in patients who underwent liver transplantation, either for FHF (60%, 15/24) or chronic liver disease (45%, 9/20). CONCLUSIONS: In our geographical area, HGV infection is relatively frequent in FHF, but it does not seem to play a major role in idiopathic cases.

[Prolonged administration of hepatitis B hyperimmune gamma globulin in patients with liver transplantation in liver diseases caused by hepatitis B virus]. / Administración prolongada de gammaglobulina hiperinmune antihepatitis B en pacientes con trasplante hepático por hepatopatía por virus de la hepatitis B.

To prevent reinfection by the hepatitis B virus (HBV) in liver transplant patients, the administration of anti-HBV hyperimmune gammaglobulin (HBIg) was proposed. This study compares the efficacy of HBIg administration alone during the anhepatic phase of liver transplantation (group 1, 19 transplantations) with that obtained with prolonged and permanent HBIg administration (group II, 18 transplantations) in patients transplanted because of liver disease by HBV. HBIg was administered intravenously in the intrahospital phase, followed by intramuscular administration in the undefined follow up period. Thirteen patients (68%) of group 1 and 5 (28%) of group II developed post transplantation reinfection by HBV (p = 0.015). Survival of the grafts with reinfection by HBV was lower than that in grafts without reinfection (6/18, 33%, and 16/19, 84%; p = 0.002). Most grafts with reinfection by HBV were lost due to patient death as a consequence of this complication. No adverse secondary effects were found to be related with HBIg administration. In conclusion, the prolonged use of HBIg in patients undergoing liver transplantation because of liver disease by HBV reduces the risk of post transplant reinfection by HBV and is well tolerated.