Diagnosis of Whipple's disease using molecular biology techniques.

The diagnosis of Whipple's disease (WD) is based on the existence of clinical signs and symptoms compatible with the disease and in the presence of PAS-positive diastase-resistant granules in the macrophages of the small intestine. If there is suspicion of the disease but no histological findings or only isolated extraintestinal manifestations, species-specific PCR using different sequences of the T. whippleii genome from different tissue types and biological fluids is recommended.

[Clinical and molecular features in a family with multiple endocrine neoplasia type-1 syndrome].

Background: The clinical features of multiple endocrine neoplasia type-1 (MEN-1) syndrome are hyperplasia or adenoma of the parathyroid glands, pituitary adenoma and gastroenteropancreatic endocrine tumors. This syndrome is due to mutations in the MEN1 gene, located on the q13 region of chromosome 11. Prognosis depends on tumoral growth and metastatic potential.

[Molecular and clinical characteristics of a family with Alagille syndrome].

Background And Objective: The Alagille syndrome (AS) is characterized by biliary ductopenia and abnormalities of heart, eyes, face, bones, kidneys and brain with a dominant inheritability. Mutations of Jagged 1 gene are observed in individuals with the full syndrome and/or relatives with little or no phenotypic features. Prognosis of patients depends on the hepatic and cardiovascular involvement.

Littoral-cell angioma of the spleen: a case report.

Littoral-cell angioma (LCA) is a primary splenic vascular tumor that arises from the normal littoral cells lining the sinus channels of the splenic red pulp. We report a case of LCA of the spleen, which has been infrequently communicated in the literature. A 76-year-old man with a 2-wk history of weight loss, abdominal pain and changes in bowel habits was admitted to our hospital.

Sonographic findings of hepatic lesions in human fascioliasis.

Purpose: The aim of this retrospective study was to analyze the sonographic features of hepatic lesions in patients with fascioliasis to help determine the utility of sonography in diagnosing this disorder in patients from areas in which Fasciola hepatica infestation is endemic.

Methods: Seven patients with acute-phase (hepatic) fascioliasis had been identified among a previously reported series of 37 patients with fascioliasis who had been evaluated sonographically at Donostia Hospital in San Sebastián (Guipúzcoa), Spain. The 4 men and 3 women ranged in age from 29 to 69 years (mean, 49 years).