RESUMO
BackgroundNoninvasive neurally adjusted ventilator assist (NIV-NAVA) was introduced to our clinical practice via a pilot and a randomized observational study to assess its safety, feasibility, and short-term physiological effects.MethodsThe pilot protocol applied NIV-NAVA to 11 infants on nasal CPAP, high-flow nasal cannula, or nasal intermittent mandatory ventilation (NIMV), in multiple 2- to 4-h periods of NIV-NAVA for comparison. This provided the necessary data to design a randomized, controlled observational crossover study in eight additional infants to compare the physiological effects of NIV-NAVA with NIMV during 2-h steady-state conditions. We recorded the peak inspiratory pressure (PIP), FiO2, Edi, oxygen saturations (histogram analysis), transcutaneous PCO2, and movement with an Acoustic Respiratory Movement Sensor.ResultsThe NAVA catheter was used for 81 patient days without complications. NIV-NAVA produced significant reductions (as a percentage of measurements on NIMV) in the following: PIP, 13%; FiO2, 13%; frequency of desaturations, 42%; length of desaturations, 32%; and phasic Edi, 19%. Infant movement and caretaker movement were reduced by 42% and 27%, respectively. Neural inspiratory time was increased by 39 ms on NIV-NAVA, possibly due to Head's paradoxical reflex.ConclusionNIV-NAVA was a safe, alternative mode of noninvasive support that produced beneficial short-term physiological effects, especially compared with NIMV.
Assuntos
Recém-Nascido Prematuro , Suporte Ventilatório Interativo/métodos , Pulmão/fisiopatologia , Ventilação não Invasiva/métodos , Respiração , Catéteres , Pressão Positiva Contínua nas Vias Aéreas , Estudos Cross-Over , Estudos de Viabilidade , Idade Gestacional , Humanos , Recém-Nascido , Suporte Ventilatório Interativo/efeitos adversos , Suporte Ventilatório Interativo/instrumentação , Ventilação não Invasiva/efeitos adversos , Ventilação não Invasiva/instrumentação , Projetos Piloto , Fatores de Tempo , Resultado do TratamentoRESUMO
RASA1 mutations have been shown to cause capillary malformation-arteriovenous malformation (CM-AVM). We describe a patient with CM-AVM and a fetus who presented with non-immune hydrops fetalis during the pregnancy. Sequencing revealed a novel RASA1 mutation in the RASGAP domain that results in a loss of function of p120-RasGap. This report expands our current genetic and clinical understanding of CM-AVM in pregnancy.