Epidermolysis bullosa (EB) is a group of genodermatoses characterized by fragility and easy blistering of the skin. In the junctional forms of EB (JEB), blisters occur at the level of the lamina lucida, and specific mutations have been detected in the genes encoding different components of the hemidesmosomal-anchoring filament complex. In the non-lethal form of JEB (NL-JEB), mutations in genes encoding two of the polypeptide chains of the anchoring filament protein laminin 5 have recently been described. In this study, we searched for mutations in a family using PCR amplification of exon 14 of LAMB3, the laminin 5 beta3 chain gene, followed by heteroduplex analysis and automated sequencing of the PCR products. We detected a novel combination of mutations in this family, consisting of an out-of frame insertion on one allele, and a splice site mutation on the other allele, representing the first report of a large insertion in LAMB3, together with a splice site mutation inherited in trans, which result in the NL-JEB phenotype.

Adult↗

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Anatomic variants of the hepatic arteries.

The anatomic variants of the hepatic arteries observed in 216 abdominal arteriographies were analysed. A comparison was made with MICHELS' work based upon 200 anatomic dissections, and SUZUKI'S investigation of 200 abdominal arteriographies. Seven not previously classified anatomic variants of the hepatic arteries were found. The large number of variants may be ascribed to intricacies in the development of the vascular supply in the embryo and to the normal caudal displacement of the liver taking place in the embryo and fetus. Knowledge concerning existing variants is important in performing surgery, embolization and intra-arterial infusion chemotherapy in the hepatic region.

Hepatic Artery↗

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Results of elective portacaval anastomosis in 51 patients with portal cirrhosis and bleeding oesophageal varices.

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Adult↗

PubMedDate not supplied

Relief of metastatic obstruction in porta hepatis by endoprosthesis.

Percutaneous insertion of an internal endoprosthesis was attempted in 22 patients with obstructive jaundice due to metastatic lesions in the porta hepatis. The primary tumors were located outside the pancreas and the biliary tract. Insertion was successful in 16 patients. The endoprosthesis normalized the plasma bilirubin in 10 patients and improved the general condition in 12. The median survival was short when hepatic metastases were present. Insertion of an endoprosthesis is an attractive alternative to other palliative procedures.

Bilirubin↗