Chromosomal abnormalities are an important factor in the pathogenesis of congenital diaphragmatic hernia (CDH), a relatively common congenital defect associated with high morbidity and mortality. The adoption of array-based platforms for chromosome analysis has resulted in the identification of numerous copy number variants (CNVs) in infants with CDH, highlighting the potential pathogenic role of many novel genes. We identified a retrospective cohort of 28 infants treated for CDH at a single institution who had microarray testing to determine the proportion of microarray abnormalities and whether these were contributory to CDH pathogenesis. Eight patients (29%) had microarray abnormality. Seven (25%) were considered likely contributory to CDH pathogenesis, including two mosaic trisomy 9s, a 9q22.31q22.32 microduplication, two atypical 22q11.21 microdeletions, a 2q35q36.1 microdeletion, and a 15q11.2 microdeletion, offering insights into the genetic mechanisms underlying CDH development.
Aim Servo‐controlled therapeutic hypothermia is a routine therapy for babies with hypoxic‐ischaemic encephalopathy in the neonatal unit and is delivered in designated cooling centres. It is increasingly being used during neonatal transport in the UK to deliver this therapy in a timelier manner for babies not born in a cooling centre. Prior to the implementation of this treatment, passive cooling alone was used in transport. Comparison of passive and servo‐controlled cooling during neonatal transfers with reference to: (i) the proportion of babies in the therapeutic range (33–34°C) at three time points during the transport mission (arrival of the team at the referring unit, departure of the team from the referring unit and at the completion of transport); (ii) the proportion of babies overcooled at any point once the transport team was present (<33°C); and (iii) duration of phases of the transfer to evaluate the impact of active cooling on how long it takes to undertake transfer. Methods This was a retrospective observational study comparing babies with passive and servo‐controlled hypothermia (January 2015 to May 2016) following introduction of the servo‐controlled cooling mattress. Results A total of 48 patients were treated with hypothermia in transit (29 passive, 19 servo‐controlled). The median gestational age (GA) was 40 weeks (interquartile range: 39–41) and mean birthweight (BW) 3420 g (standard deviation 600 g); there was no differences in GA, BW and clinical characteristics between the groups. There was a statistically significant difference in the temperature at the end of the transport, where 94% (n = 18) of babies who received servo‐controlled cooling were in the target temperature in comparison with only 65% (n = 19) of the passive cooling group babies (P = 0.045). In addition, none of the babies in the servo‐controlled group were warm (>34°C) at the end of the transfer. Babies who underwent servo‐controlled cooling are more likely to maintain a target temperature (33–34°C) (17 (89%) vs. 17 (58%), P = 0.021); in particular, there is less overcooling (<33°C) in this group (2 (10%) vs. 15 (51%), P = 0.004). Total mission time was not significantly different. Conclusion The use of servo‐controlled cooling devices during neonatal transport improves the ability to maintain the baby's temperature within the target range (33–34°C) with less overcooling.
Sildenafil is used to treat pulmonary hypertension (PAH) in infants with congenital diaphragmatic hernia (CDH). However, data to guide sildenafil dosing and weaning are limited. This is concerning in light of a recent report describing increased risk associated with high-dose sildenafil regimens in non-CDH PAH. A retrospective cohort study of sildenafil usage, dosing, and weaning in infants with CDH was conducted at the authors' institution. The findings show that 17 % (19/122) of infants were discharged receiving sildenafil at a median dose of 8 mg/kg/day (range 2.91-5.78 mg/kg/day). The weaning rate was 0.1 mg/kg/week (range 0.01-0.5 mg/kg/week). The infants ceased therapy after a median of 343 days. At the age of 1 year, 29 % were receiving sildenafil at a dose higher than 1.5 mg/kg/day. One infant died of severe PAH. Sildenafil therapy at discharge is common in severe CDH. Variation in dosing and weaning rates highlights the need for standardized assessment and treatment of PAH after discharge to optimize the benefits and minimize the adverse effects of sildenafil.
Background and aims: Thermoregulation can be problematic during transport, but is essential to avoid cold or heat stress. Previously only 60% of transported infants were normothermic 1 . The national neonatal audit programme (NNAP) specifies standards for admission temperature 2 .
Background The CenTre transport team transfer infants requiring surgical ligation of patent ductus arteriosus (PDA) to specialist paediatric cardiac hospitals, stay with the baby during surgery, assess the baby carefully post-operatively to ensure stability and transfer infants back to the referring unit.1 Aims and Method We reviewed the case notes and transport records of a cohort of infants undergoing this procedure on a separate hospital site within the same trust. The aim was to describe transport logistics, intensive care support pre and postoperatively and final outcome. Results The cohort comprised of 20 patients with median gestation at birth, age at surgery and weight being 28 weeks, 29 days and 1.33 Kg respectively. The median transfer duration and stabilisation times were 8 hrs 50 mins and 1 hr 50 mins respectively. Ventilator support pre-and post-operatively is shown in Table 1 (median values). Median days to extubation was 7. Post operatively, 5 infants required inotropes and 9 infants required steroids to wean off CPAP. 18 babies were discharged home, 8 required home oxygen and 1 required home NIPPV. 2 babies died, one of these was due to severe respiratory failure in the first 24 h post-operatively. Abstract PC.46 Table Preoperative Postoperative day 1 2 3 4 Rate 55 55 47 45 45 PIP (cm water) 25 23 25 24 24 FiO2 (%) 47 55 77 60 69 Conclusions PDA ligation ‘away days’ have significant clinical and resource implications on the transfer team. There was no significant difference between pre and postoperative intensive care support. References Lisa Barker, Richard Hall, Andy Leslie, Anuj Grover. PDA ligation away days are associated with delays and excessive transfer duration. CenTre Neonatal Transport Anne Marie Heuchan, Lindsey Hunter, David Young. Outcomes following the surgical ligation of the patent ductus arteriosus in premature infants in Scotland. Arch Dis Child Fetal Neonatal Ed. 2012;97:F39–F44 Rehman R, Shenvi A, Harrison J, Dhillon A, Skinner A, Rasiah SV. A Increasing demand for drive through PDA Ligations conducted by the west midlands neonatal transfer service (WMNTS)
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