Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.

X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle defect. The disease severity ranges from asymptomatic carrier state to severe neonatal presentation with hyperammonaemic encephalopathy. We audited the diagnosis and management of OTCD, using an online 12-question-survey that was sent to 75 metabolic centres in Turkey, France and the UK.

Investigating the effects of endogenous lipaemia on the measurement of sodium by indirect ion specific electrode potentiometry.

Background: The widely automated method using indirect ion specific electrodes (ISE) potentiometry for determination of sodium concentration is prone to interference from lipaemia. Manufacturer-specified lipaemic (L)-index cut offs may underestimate the effects of endogenous lipaemia.

Methods: We assessed the interference on sodium concentration caused by endogenous lipaemia in 32 residual samples (from 13 patients) using indirect ISE (Cobas 8000 modular analyser with c702 module, Roche diagnostics) and direct ISE (GEM 4000 premier, Werfen) potentiometric methods.

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.

We have used whole-exome sequencing in ten individuals from four unrelated pedigrees to identify biallelic missense mutations in the nuclear-encoded mitochondrial inorganic pyrophosphatase (PPA2) that are associated with mitochondrial disease. These individuals show a range of severity, indicating that PPA2 mutations may cause a spectrum of mitochondrial disease phenotypes. Severe symptoms include seizures, lactic acidosis, cardiac arrhythmia, and death within days of birth.

Elevated soluble cellular adhesion molecules are associated with increased mortality in a prospective cohort of renal transplant recipients.

Background: Increased plasma levels of cellular adhesion molecules (CAMs) have been shown to be predictors of all cause mortality in individuals with chronic renal failure 12 and patients with end-stage renal disease receiving haemodialysis 3. In renal transplant recipients the predictive value of CAMs has not been well characterised. The aim of this study was to assess the relationship between CAMs and all-cause mortality during prospective follow-up of a renal transplant cohort.

Elevated homocysteine is a predictor of all-cause mortality in a prospective cohort of renal transplant recipients.

Background: In patients with chronic kidney disease, an elevated homocysteine concentration is associated with an increased incidence of cardiovascular events.

Aim: The aim of this study was to investigate the relationship between homocysteine concentration and all-cause mortality during prospective follow-up of a renal transplant cohort.

Methods: A total of 378 renal transplant recipients were recruited between June 2000 and December 2002.

Elevated serum phosphate predicts mortality in renal transplant recipients.

Background: High serum phosphate has been identified as an important contributor to the vascular calcification seen in patients with chronic kidney disease (Block et al., Am J Kidney Dis 1998; 31: 607). In patients on hemodialysis, elevated serum phosphate levels are an independent predictor of mortality (Block et al.

Troponin T is an independent predictor of mortality in renal transplant recipients.

Background: Numerous reports have demonstrated an association between elevated Troponin T levels and adverse cardiovascular outcomes in patients with chronic kidney disease. However, whether raised Troponin T levels are an independent predictor of mortality in renal transplant recipients has not yet been established. The aim of this study was, therefore, to assess the use of Troponin T as a prognostic marker in a population of renal transplant recipients.

Decreased serum retinol is associated with increased mortality in renal transplant recipients.

Background: Vitamin A plays a central role in epithelial integrity and immune function. Given the risk of infection after transplantation, adequate vitamin A concentrations may be important in patients with a transplant. We assessed whether there was an association between retinol concentration and all-cause mortality in renal transplant recipients.