Predicting outcome after severe brain injury in risk neonates using the serum S100B biomarker: results using single (24 h) time-point.

BACKGROUND AND OBJECTIVES: In recent years, biochemical markers have been employed to predict the outcome of risk neonates with severe asphyxia contributing to traumatic brain injury (TBI). In mild TBI S100B has shown the most promise as a marker of outcome. The objectives of this study were: (i) to show the range of serum S100B levels during the acute phase after asphyxia in neonates and premature newborns, (ii) to determine if S100B has potential to discriminate favourable from unfavourable outcomes in neonates and premature newborns with similar severity of brain injury and (iii) to establish an S100B 'cut-off' point for lethal outcome. METHODS: 119 neonates were recruited, divided into an overall risk group (N=71) and control group (N=48). The risk neonates were categorized into subgroups according to their clinical presentation. A serum blood sample was obtained from each patient at a 24 h post-injury time-point. S100B levels were measured using the ECLIA (Electro-Chemi-Luminiscence Immuno Assay) method. Injuries were coded using an internationally recognised injury severity scoring system (ISS). RESULTS: S100B levels were significantly higher in asphyxiated term neonates (N=29; M=0.64) than in premature neonates (N=30; M=0.18) and IUGR (intrauterine growth retardation) neonates (N=9; M=0.03). The neonates with a neurological defect (N=3; M=1.73) measured the highest level of S100B. The average serum S100B levels for the control group (N=48) was 0.12 µgL(-1); cut-off point. CONCLUSION: During the first 24 h of life S100B protein in term neonates was significantly higher compared to all the other groups (cut-off was 0.12 µgL), except the neonates with neurological defects. S100B protein is a good indicator of brain damage in term neonates, especially in the first 24 h of life.

Implementation of Fluorescent in situ hybridization (FISH) as a method for detecting microdeletion syndromes - our first experiences.

Fluorescent in situ hybridisation (FISH) is a complementary cytogenetic method which has an important role in discovering unsolved cases of mental retardation and multiple anomalies. The ability of this method to detect complex and cryptic chromosomal rearrangements exceeds the resolution of the usual cytogenetic banding techniques; therefore it has a wide implementation in modern cytogenetic laboratories - in routine work, as well as for research purposes. We analysed 19 patients with microdeletion syndromes - 9 patients with Williams syndrome, 4 patients with Prader-Willi syndrome, and 6 patients with DiGeorge syndrome. On the basis of evaluation of facial dysmorphism and the presence of specific major anomalies, all the patients met the criteria for the diagnosis of the syndrome. FISH studies were performed, confirming the suspected syndrome in patients.