Bronchopulmonary Dysplasia in Preterm Neonates in a Level III Neonatal Unit in India.

OBJECTIVE: To find out the incidence and associations of bronchopulmonary dysplasia (BPD) in preterm neonates. DESIGN: Descriptive cohort. Methods: All consecutively born neonates <33 weeks gestation requiring oxygen or respiratory support during first 3 days of life were enrolled from a level III neonatal unit in Chandigarh, India. Those with malformations were excluded. Placenta was examined for histological chorioamnionitis in preterm rupture of membranes and/or preterm spontaneous onset of labour. Serum Malondialdehyde (MDA) and Superoxide dismutase (SOD) and Catalase levels were estimated on day 3 of life. All recruited neonates were followed up till discharge or death. RESULTS: Out of 250 neonates enrolled, 170 (68%) survived till day 28 and BPD developed in 19 (11.2%) infants. The mean gestation and birth weight were significantly lower in infants who developed BPD. Chorioamnionitis (clinical 5.3% vs 1.9%, P=0.375; and histological 37.5% vs 16.7%, P<0.001), patent ductus arteriosus (PDA) (52.6% vs 8.9%, P<0.001), median (IQR) sepsis episodes [2 (2,3) vs 1 (1,2), P<0.001], invasive ventilation (84.2% vs 11.3%, P<0.001), and duration of ventilation [56 (4) d vs 4 (5) d, P=0.001] were significantly higher in infants with BPD. Serum MDA, SOD and Catalase levels were comparable between the two groups. CONCLUSIONS: Chorioamnionitis, PDA and sepsis were significantly associated with BPD.

Methylmalonic Acidemia with Novel MUT Gene Mutations.

A 5-year-old boy presented with recurrent episodes of fever, feeding problems, lethargy, from the age of 11 months, and poor weight gain. He was admitted and evaluated for metabolic causes and diagnosed as having methylmalonic acidemia (MMA). He was treated with vit B12 and carnitine supplements and has been on follow-up for the last 3 years. Mutation analysis by next generation sequencing (NGS), supplemented with Sanger sequencing, revealed two novel variants in the MUT gene responsible for MMA in exon 5 and exon 3, respectively. Recently he developed dystonic movements including orofacial dyskinesia. With advent of NGS, judicious use of NGS with Sanger sequencing can help identify causative possibly pathogenic mutations.