Co-inheritance of a PKD1 mutation and homozygous PKD2 variant: a potential modifier in autosomal dominant polycystic kidney disease.

Background: Autosomal dominant polycystic kidney disease (ADPKD), which is caused by mutations in polycystins 1 (PC1) and 2 (PC2), is one of the most commonly inherited renal diseases, affecting ~1 : 1000 Caucasians.

Materials And Methods: We screened Greek ADPKD patients with the denaturing gradient gel electrophoresis (DGGE) assay and direct sequencing.

Results: We identified a patient homozygous for a nucleotide change c.

Quality and safety of fresh-frozen plasma inactivated and leucoreduced with the Theraflex methylene blue system including the Blueflex filter: 5 years' experience.

Background And Objectives: The objective of this paper is to present 5 years' experience of pathogen inactivation of fresh-frozen plasma with the methylene blue system in a blood centre in Athens.

Materials And Methods: Eight thousand and five hundred units treated by methylene blue and 54 435 untreated were issued for transfusion in four hospitals during the period 2000-2005. Eighty-eight units were evaluated for changes in coagulation factor activity and cytokine concentrations following treatment.

Catastrophic antiphospholipid syndrome in a 14-year-old child.

Antiphospholipid syndrome (APS) is an autoimmune disease. Less than 1% of patients with APS present with life-threatening catastrophic APS (CAPS). We report here a case of CAPS in a young girl with cardiac, gastrointestinal and renal involvement.

Myofibroblasts and the progression of crescentic glomerulonephritis.

Background: The cellular and humoral factors involved in the pathogenesis of glomerulosclerosis and renal fibrosis following a crescentic glomerulonephritis have not been fully elucidated. Myofibroblasts and transforming growth factor-beta (TGF-beta) have been implicated in the development of experimental and clinical renal fibrosis. We have attempted to identify these mediators in crescentic glomerulonephritis and determine their role in the progression of the disease.

The production of platelet-activating factor (PAF) during hemodialysis with cuprophane membrane. Does the calcium concentration in the dialysate play any role on it?

There is evidence that PAF may be produced during hemodialysis (HD) mainly when using cuprophane membrane (CU). It is also known that PAF production is dependent on the amount of extracellular calcium (ECa2+). In the present study, we investigated the production of PAF during HD with CU as well as the role of the Ca2+ in the dialysate with respect to PAF production.