Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature.

Spinal muscular atrophy with respiratory distress syndrome (SMARD1) is a rare cause of early infantile respiratory failure and death. No cases have been currently described from India. Two low-birth-weight infants presented prior to 6 months of age with recurrent apnea and respiratory distress. Both required prolonged ventilation, and had distal arthrogryposis and diaphragmatic eventration. Nerve conduction study revealed motor sensory axonopathy. Genetic testing confirmed mutations in immunoglobulin mu binding protein (IGHMBP2). These two cases establish presence of SMARD1 in our population. Both infants died on discontinuation of ventilation. Antenatal diagnoses done in one pregnancy. Though rare, high index of suspicion is essential in view of poor outcome and aid antenatal counseling.

Rescue high frequency oscillation in neonates with acute respiratory failure.

The aim was to study the efficacy of rescue High Frequency Oscillatory Ventilation (HFOV) in improving the oxygenation and ventilation in neonates with acute respiratory failure after failing Conventional Mechanical Ventilation (CMV). Primary outcome was short term oxygenation, lung recruitment, and ventilation and secondary outcome studied was survival. 675 babies were ventilated and 97 of them received HFOV. HFOV significantly improved oxygenation index, alveolar-arterial oxygen gradient, pH, PCO2, PO2 and caused better lung recruitment within 2 hours. Fifty seven babies (58.77%) survived and the mortality was more in <28 weeks, babies with pulmonary hemorrhage, sepsis and CDH.

Transported neonates by a specialist team - how STABLE are they.

The study was designed to compare the biochemical characteristics of neonates transported by qualified transport team, before and after stabilization, interventions required and setbacks during these transports. Prospective cohort study of all neonatal transports during a period of 13 months from various maternity and pediatric centers was conducted; 151 babies who fulfilled the criteria were included in the study. 58% of babies < 32 wks were hypothermic, 21% of the total babies were hypotensive and a total of 25% of the babies were hypoxic at the referral hospital. Intubation was done by the transport team in 23% of babies and 25 % of the babies were transported on a ventilator. There was a significant improvement in the clinical condition of all these babies in relation to temperature control, sugar control, oxygenation and blood pressure after stabilization.

Prolonged neonatal interhospital transport on road: relevance for developing countries.

OBJECTIVE: To compare prolonged inter hospital long distance transports on road undertaken by a qualified transport team vs those done by the same team from shorter distances and time. METHODS: Retrospective descriptive comparative study of the neonatal transports done during a period of 48 mo. All neonates transferred on road to a tertiary level pediatric hospital from various maternity and pediatric centers. The biochemical characteristics, adverse effects during transport and 24 hr survival after the transport in both the groups were compared. RESULTS: The babies were comparable in their gestational age and ventilatory requirements (46% vs 39%). The biochemical and metabolic characteristics and 24 hr mortality rates for babies who were transported for longer times and distances were comparable (p value =0.75) to those transported for shorter times. CONCLUSION: Long distance neonatal transport on road is feasible and with a qualified team results can be comparable to those transported from shorter distances.

Myocardial dysfunction in severe falciparum malaria.

Severe malaria causes multiorgan dysfunction, which is the predominant reason for mortality in these children. Cardiac enzymes have been elevated and cardiac involvement has been suspected in some of these children, however, clear cut echocardiographic evidence for it was not possible. There were isolated reports of myocardial dysfunction in malaria in adults but none in children. We present two such children with cardiac involvement and myocardial dysfunction.