Neonatal respiratory failure associated with mutation in the surfactant protein C gene.

We report on a term newborn with an unusual presentation and course of a rare lung disease due to mutation in SFTPC gene. This particular SFTPC mutation is novel, and the infant's lung disease was unusually severe compared to what has been previously reported in association with SFTPC mutations.

Maternal haemolysis, elevated liver enzymes and low platelets syndrome: perinatal and neurodevelopmental neonatal outcomes for infants weighing less than 1250 g.

OBJECTIVES: To study mortality and short-term morbidity of infants born to women with HELLP (haemolysis, elevated liver enzymes, and low platelets) syndrome and to compare the long-term neurodevelopmental morbidity of a subgroup with birth weight (BWT) less than 1250 g (study group) with weight matched controls. METHODS: Retrospective chart review and prospective neurodevelopmental follow-up through a Perinatal Follow-up clinic. Analysis of perinatal and neonatal data for women diagnosed with HELLP from 1993 to 1996. Neurodevelopmental outcome for the study group was compared to a group of weight matched controls. RESULTS: A total of 109 infants (mean gestational age 32.6 weeks, mean BWT 1766 g) were born to 104 women with HELLP syndrome. There was a significant decrease in mortality (P = 0.002) and morbidity (P < 0.05) with increasing gestational age and birthweight. No significant differences in neonatal mortality and morbidity were present between the infants weighing less than 1250 g study and weight matched control group. However, at 3 years, the study group had fewer children with cerebral palsy (P = 0.024) and mental disability (P trend = 0.07). Mean cognitive index was 99 versus 91 in the controls (P = 0.101). CONCLUSION: Improved health outcomes occur with increased gestational age. Infants with BWT less than 1250 g born to women with HELLP syndrome were not at risk of increased neurodevelopmental disability compared to controls.

Plasma L-arginine concentration, oxygenation index, and systemic blood pressure in premature infants.

OBJECTIVE: To determine the relationships between plasma L-arginine concentrations and the severity of respiratory distress syndrome (RDS) or systemic blood pressure in premature infants. DESIGN: Prospective, observational study. SETTING: Neonatal intensive care, tertiary referral hospital. SUBJECTS: Fifty-three premature infants. INTERVENTIONS: We measured arginine and nutritional intake, plasma arginine concentration, total amino acid concentrations, and blood pressure on days 3, 7, 14, and 21 of life. In 33 infants who received assisted ventilation, oxygenation index could be calculated to reflect the severity of RDS. The relationships between plasma arginine and oxygenation index or blood pressure were analyzed using multiple linear regression. MEASUREMENTS AND MAIN RESULTS: On day 3, plasma arginine concentrations were decreased compared with normal published values. Arginine concentrations increased with the day of life of measurement (p < .001) and with arginine intake (p < .001). After adjusting for arginine intake and day of life, an inverse relationship was found between oxygenation index and plasma arginine concentrations: (p = .025). No similar relationship was found between oxygenation index and the concentration of total amino acids. A weak positive relationship was found between plasma arginine concentration and systemic blood pressure. CONCLUSIONS: Increments in the oxygenation index, reflective of an increased severity of RDS, are associated with a decrease in plasma arginine concentration. This finding may reflect arginine consumption by the nitric oxide synthase pathway in the lungs of premature infants with RDS, or may be explained by increased arginine catabolism. The lack of a similar relationship between total plasma amino acids and oxygenation index supports the first interpretation.

Plasma L-arginine concentrations in premature infants with necrotizing enterocolitis.

OBJECTIVE: To determine whether L-arginine concentrations (the substrate for nitric oxide synthesis) are lower in premature infants in whom necrotizing enterocolitis (NEC) develops than in unaffected infants. METHODS: We measured arginine and nutritional intake, plasma arginine, glutamine, total amino acids, and ammonia concentrations in 53 premature infants (mean gestational age +/- SD: 27 +/- 1.7 weeks) at risk of NEC. Measurements were done on days 3, 7, 14 and 21 and just before treatment in infants with NEC. RESULTS: Necrotizing enterocolitis developed in 11 infants between postnatal days 1 and 26. On day 3, plasma arginine concentrations were decreased compared with normal published values (mean +/- SE, 41 mumol/L +/- 4). Arginine concentrations increased with day of life of measurement (p < 0.001) and arginine intake (p < 0.001). Plasma arginine concentrations were significantly lower at the time of diagnosis in infants with NEC compared with control subjects, even after adjusting for arginine intake and day of life (p = 0.032). Plasma glutamine and total amino acid concentrations were not significantly different in infants with NEC compared with control subjects. Plasma ammonia concentrations were elevated on day 3 (mean +/- SE, 72 +/- 3.3 mumol/L) and decreased with postnatal age (p < 0.001) and increasing plasma arginine concentrations (p < 0.001). CONCLUSION: Plasma arginine concentrations are decreased at the time of diagnosis in premature infants with NEC. The potential benefit of arginine supplementation in the prevention of the disease deserves evaluation.

Significance of phototherapy-induced riboflavin deficiency in the full-term neonate.

As a result of impaired fatty acid oxidation, a characteristic urinary dicarboxylic aciduria occurs in the riboflavin deficient animal. We compared the occurrence of riboflavin deficiency induced by phototherapy with changes in urinary organic acid profiles in 8 full-term, breast-fed neonates who received phototherapy for hyperbilirubinemia, and in 10 full-term, breastfed controls. Riboflavin status was assessed by measuring flavin adenine dinucleotide saturation of erythrocyte glutathione reductase. All 8 neonates exposed to phototherapy developed riboflavin deficiency (p less than 0.001). Riboflavin deficiency was progressive with the duration of phototherapy. None of the controls was riboflavin deficient. Urine organic acid profiles indicative of mitochondrial acyl-CoA dehydrogenase activity (fatty acid beta-oxidation, quantitated by gas chromatography mass spectrometry) showed no changes between the study and control groups in mono-, di-, or tricarboxylic acids or other organic acids. The riboflavin deficiency induced by phototherapy in full-term neonates was not of sufficient severity to limit riboflavin-dependent fatty acid oxidation.