Neonate-onset ornithine transcarbamylase deficiency / 中国当代儿科杂志

The male neonate in this case study was admitted to the hospital at 15 hours of age due to respiratory distress for 15 hours and poor response for 3 hours after resuscitation from asphyxia. The neonate was highly unresponsive, with central respiratory failure and seizures. Serum ammonia was elevated (>1 000 μmol/L). Blood tandem mass spectrometry revealed a significant decrease in citrulline. Rapid familial whole genome sequencing revealed OTC gene mutations inherited from the mother. Continuous hemodialysis filtration and other treatments were given. Neurological assessment was performed by cranial magnetic resonance imaging and electroencephalogram. The neonate was diagnosed with ornithine transcarbamylase deficiency combined with brain injury. He died at 6 days of age after withdrawing care. This article focuses on the differential diagnosis of neonatal hyperammonemia and introduces the multidisciplinary management of inborn error of metabolism.

Role of SARS-CoV-2 neurotropism and neuroinvasion in COVID-19 patients disease severity / Papel del neurotropismo y neuroinvasión de SARS-CoV-2 en la gravedad de los pacientes con COVID-19

Abstract The disease caused by the new SARS-CoV-2 coronavirus (COVID-19) spread rapidly from China to the entire world. Approximately one third of SARS-CoV-2-infected patients have neurological disorders, especially those classified as severe cases and that require mechanical ventilation. On the other hand, almost nine out of 10 patients admitted to an Intensive Care Unit could not breathe spontaneously, thus requiring invasive and non-invasive ventilatory support. So far, whether early neurological disorders such as hyposmia or anosmia, dysgeusia or ageusia, headache and vertigo are significant in the progression to the severe form of the disease or whether they are related to entry to the central nervous system via peripheral nerves has not been determined. Considering the great similarity between SARS-CoV and SARS-CoV-2, and that the severity of the condition that leads to death cannot be explained solely by lung involvement, it is important to determine whether SARS-CoV-2 potential invasion to the central nervous system is partially responsible for the severe respiratory component observed in patients with COVID-19.

Resumen La enfermedad (COVID-19) producida por el nuevo coronavirus SARS-CoV-2 se extendió rápidamente desde China a todo el mundo. Aproximadamente una tercera parte de los pacientes infectados de SARS-CoV-2 presenta alteraciones neurológicas, con mayor frecuencia los clasificados como graves que requirieron ventilación mecánica. Por otro lado, casi nueve de cada 10 pacientes admitidos en una unidad de cuidados intensivos no podían respirar espontáneamente, por lo que ameritaron apoyo ventilatorio invasivo y no invasivo. Hasta el momento no se ha determinado si las alteraciones neurológicas tempranas como la hiposmia o anosmia, disgeusia o ageusia, cefalea y vértigo son significativas en la progresión a la forma grave de la enfermedad y se relacionan con la entrada al sistema nervioso central a través de los nervios periféricos. Considerando la gran similitud entre SARS-CoV y SARS-CoV-2 y que la severidad del cuadro que conduce a la muerte no puede ser explicado únicamente por la afección pulmonar, es importante determinar si la invasión potencial del SARS-CoV-2 al sistema nervioso central es parcialmente responsable del componente respiratorio severo que presentan los pacientes con COVID-19.

Impact of positive end-expiratory pressure on systemic hemodynamics in patients with central respiratory failure / 中华急诊医学杂志

Objective To evaluate the impact of positive end-expiratory pressure (PEEP) on hemodynamic variables including central venous pressure (CVP),mean arterial pressure (MAP) and heart rate (HR) in patients with central respiratory failure treated by mechanical ventilation.Methods Thirty two neurosurgical patients with central respiratory failure,male 19,female 13,mean age (58.8 ± 13.9)years,GCS ≤ 8 points,were enrolled in this prospective,self-control study between June 1,2009,and May 31,2011.Patients were excluded in cases of severe cardiopulmonary disorders,pericardial diseases,person machine confrontation,administration of vasoactive drugs,and hypervolemia or hypovolemia.On admission to neurosurgical intensive care unit,all patients were mechanically ventilated in the mode of synchronized intermittent mandatory ventilation.Hemodynamic effects of six randomly set levels of end-expiratory pressures (0,3,6,9,12,15 cm H2O,every 10 min,1cm H2O =0.098 kPa) were studied in all patients.CVP,MAP and HR were recorded at each of the six end-expiratory pressure levels.One-way analysis of variance and simple linear regression model were used for data analysis.Results The levels of central venous pressure were elevated with increase in end-expiratory pressures.CVP levels were positively correlated with the levels of PEEP (R =0.468,P =0.000),with a simple linear regression equation expressed as:CVP (cm H2O) =7.870 +0.344 ×PEEP (cm H2O),The levels of MAP showed no statistically significant changes at different PEEP levels (F =1.390,P =0.227).No linear correlation between MAP,HR and PEEP levels was found (R =0.042 and 0.160,P =0.413 and 0.002).Conclusions CVP values would be overestimated during mechanical ventilation at different PEEP levels in mechanically ventilated patients due to central respiratory failure,positive correlation existed between CVP values and PEEP levels,whereas MAP was unaffected by different PEEP levels.This study could probably offer a quantitative reference for correct assessment of such a hemodynamic variable as CVP for mechanically ventilated patients without discontinuance of PEEP.Further studies are needed to determine whether these findings could be confirmed in a prospective manner.