COG6-congenital disorder of glycosylation (COG6-CDG) is caused by biallelic mutations in COG6. To-date, 12 variants causing COG6-CDG in less than 20 patients have been reported. Using whole exome sequencing we identified two siblings with a

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BackgroundHyper- or hypocarbia can be detrimental to children with severe head trauma. Our interfacility transport program and sole tertiary care ICU serve a province of 1 million square km. Difficult geography and weather contribute to long transports, which, with the constraints of care in flight, make suboptimal control of PCO2 more likely. The objective of this study was to evaluate if reliance on end-tidal CO2 monitoring was sufficient to maintain patients within our treatment target range of between 35 and 40 mm Hg (4.7-5.3 kPa) and avoid hyper- or hypocarbia.MethodsCharts were reviewed for all intubated severely head-injured children (GCS < 10) transported by paramedics to our center with Propaq end-tidal CO2 monitoring from January 2001 to December 2003. Data collected were age, transport time, GCS and PaCO2 (prior to leaving referring hospital and on arrival at ICU), end-tidal CO2 and ventilator changes in flight.ResultsData were obtained on 35 patients; 2 had incomplete data; data from 33 patients (20 male, 13 female) were analyzed. Mean age 8.0 ± 4.4; median age 10. Transport time 79 ± 63 minutes. GCS at referring hospital 6.3 ± 32 and at ICU 5.0 ± 2.4. PaCO2 levels at referring hospital and on arrival in ICU indicated 59% of PaCO2 values at referring hospitals were out of target range (11 under, 5 over). 78% of end-tidal values during flight were outside target range (17 under, 1 over) 63% (21 of 33) PaCO2 values were outside target range on arrival in ICU (10 below, 11 above) Trend of change of PaCO2 from referring hospital to ICU: 5 remained outside in same direction, 4 moved into range, 7 moved to out of range in the opposite direction. There was no significant difference between the final PaCO2 measurements at the referring hospital and those at ICU (p = .37). There was a significant difference between the final in-flight ETCO2 and PaCO2 measured in the ICU (p < .001) (paired t-test).ConclusionsCare can be improved for severely head-injured children during transport. In flight end-tidal monitoring alone appears inadequate. Greater attention to ventilator settings by paramedics may be required. We also plan a prospective trial of point of care testing.