ABSTRACT
The urea cycle disorder carbamoyl phosphate synthetase I deficiency is an important differential diagnosis in the encephalopathic neonate. This intoxication type inborn error of metabolism often leads to neonatal death or severe and irreversible damage of the central nervous system, even despite appropriate treatment. Timely diagnosis is crucial, but can be difficult on routine metabolite level. Here, we report ten neonates from eight families (finally) diagnosed with CPS1 deficiency at three tertiary metabolic centres. In seven of them the laboratory findings were dominated by significantly elevated urinary 3-methylglutaconic acid levels which complicated the diagnostic process. Our findings are both important for the differential diagnosis of patients with urea cycle disorders and also broaden the differential diagnosis of hyperammonemia associated with 3-methylglutaconic aciduria, which was earlier only reported in TMEM70 and SERAC1 defect.
Subject(s)
Carbamoyl-Phosphate Synthase I Deficiency Disease/urine , Glutarates/urine , Carbamoyl-Phosphate Synthase I Deficiency Disease/diagnosis , Carbamoyl-Phosphate Synthase I Deficiency Disease/genetics , Female , Humans , Infant, Newborn , Male , Mutation , PedigreeABSTRACT
OBJECTIVES: Recently a biocompatible bone adhesive was introduced in addition to the sternal wires to expedite sternal union and improve patient recovery. In this study we aim to objectively assess the biomarker of pain in patient who received the biocompatible bone adhesive. METHODS: A total of 62 patients who underwent sternotomy were prospectively randomised to receive either conventional wire closure (CWC); 32 patients or adhesive enhanced closure in addition to sternal wire (AEC); 30 patients. Patients were monitored postoperatively at certain time intervals for incisional pain, serum Interleukin-6 (IL-6) level, analgesia used and postoperative complications. All patients were followed up for 4 weeks. RESULTS: The post-operative pain scores with coughing were significantly higher in the CWC group at 24 hours and 48 hours. The postoperative IL 6 levels were significantly higher in the CWC group in comparison with the AEC group at 6 hours, 24 hours, and 48 hours. There were no significant differences in term of additional analgesia used. No adverse events from adhesive bone cement were observed during follow up. CONCLUSIONS: Adhesive-enhanced sternal closure resulted in modest reduction of pain confirmed by reduction of pain biomarker. Justification of its routine use requires larger multicentre study.
