DNA methylation pattern of CALCA in preterm neonates with bacterial sepsis as a putative epigenetic biomarker.

Diagnosis of bacterial sepsis in preterm neonates can be difficult when using serum markers that rely on physiological changes because these changes may not necessarily be the result of bacterial infections alone. This retrospective investigation explores the potential use of the DNA methylation pattern of CpG sites in the promoter region of the calcitonin-related polypeptide α (CALCA) gene as an epigenetic biomarker for bacterial sepsis in preterm newborns. Four novel changes in the DNA methylation of eight CpG sites were detected in this gene and are present only in neonates with bacterial sepsis: (1) partial methylation at -769 CpG in gram-negative or gram-positive early onset sepsis (EOS) and late onset sepsis (LOS) episodes; (2) demethylation of 8 CpGs in gram-negative EOS followed by LOS (ELS) and in gram-negative EOS; (3) demethylation of 7 CpGs in gram-positive ELS and gram-positive EOS; (4) -771 C:G>T:A; 5' de novo -778 CpG mutation on both alleles in EOS.

Two site evaluation of the performance of a new generation point-of-care glucose meter for use in a neonatal intensive care unit.

Background: Monitoring of blood glucose in neonatal intensive care unit (NICU) patients is important in maintaining normoglycaemia and reducing the risk of hypoglycaemia. Point-of-care testing (POCT) glucose meters provide short turnaround times but some have been reported to be affected by haematocrit interference and other biochemical or biological substances in their accuracy and performance. The aim of this study was to assess the performance of a new POCT glucose meter in a challenging preterm neonatal population.

Molecular detection of late-onset neonatal sepsis in premature infants using small blood volumes: proof-of-concept.

Background: Conventional blood culture is still the gold standard for sepsis diagnosis but results are not immediately available and pathogens are only detected in approximately 25% of cases. New molecular assays for the detection of blood stream pathogens are promising diagnostic tools.

Objectives: The aim of the study was to adapt and evaluate a multiplex PCR system using 100 µl blood.

Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screening.

The interest in early detection strategies for lysosomal storage disorders (LSDs) in newborns and high-risk population has increased in the last years due to the availability of novel treatment strategies coupled with the development of diagnostic techniques. We report the development of a short-incubation mass spectrometry-based protocol that allows the detection of Gaucher, Niemann-Pick A/B, Pompe, Fabry and mucopolysaccharidosis type I disease within 4h including sample preparation from dried blood spots. Optimized sample handling without the need of time-consuming offline preparations, such as liquid-liquid and solid-phase extraction, allows the simultaneous quantification of five lysosomal enzyme activities using a cassette of substrates and deuterated internal standards.