Treatment of two newborns with esophageal atresia and distal tracheoesophageal fistula complicated by gastric perforation: choosing the simple way.

Objective: Gastric distention and perforation are possible results in a preterm newborn with esophageal atresia and distal tracheoesophageal fistula, especially when there is a need for mechanical ventilatory support. The results of the reported cases treated with emergency thoracotomy and fistula ligation after gastrostomy are not very satisfactory. Sometimes simple temporary solutions can be useful for stabilization and allow safety for required surgical treatment for later.Patient and methods: Two preterm newborns with esophageal atresia and distal tracheoesophageal fistula complicated by gastric perforation were reported.Results: Both of the patients were initially treated with a simple peritoneal drainage and, then the definitive operations were performed without any problem in stabilized patients.Conclusion: Performing fistula ligation or occlusion as an initial treatment in patients with impaired cardiac and respiratory functions may worsen the status of the patient. In such cases, it could be better to perform simple interventions first to facilitate subsequent treatments.

NMR-Based Screening for Inborn Errors of Metabolism: Initial Results from a Study on Turkish Neonates.

Approximately 1 in 400 neonates in Turkey is affected by inherited metabolic diseases. This high prevalence is at least in part due to consanguineous marriages. Standard screening in Turkey now covers only three metabolic diseases (phenylketonuria, congenital hypothyroidism, and biotinidase deficiency). Once symptoms have developed, tandem-MS can be used, although this currently covers only up to 40 metabolites. NMR potentially offers a rapid and versatile alternative.We conducted a multi-center clinical study in 14 clinical centers in Turkey. Urine samples from 989 neonates were collected and investigated by using NMR spectroscopy in two different laboratories. The primary objective of the present study was to explore the range of variation of concentration and chemical shifts of specific metabolites without clinically relevant findings that can be detected in the urine of Turkish neonates. The secondary objective was the integration of the results from a healthy reference population of neonates into an NMR database, for routine and completely automatic screening of congenital metabolic diseases.Both targeted and untargeted analyses were performed on the data. Targeted analysis was aimed at 65 metabolites. Limits of detection and quantitation were determined by generating urine spectra, in which known concentrations of the analytes were added electronically as well as by real spiking. Untargeted analysis involved analysis of the whole spectrum for abnormal features, using statistical procedures, including principal component analysis. Outliers were eliminated by model building. Untargeted analysis was used to detect known and unknown compounds and jaundice, proteinuria, and acidemia. The results will be used to establish a database to detect pathological concentration ranges and for routine screening.