BACKGROUND Isovaleric acidemia(IVA)is a rare autosomal recessive inherited organic acidemia caused by a genetic deficiency of isovaleryl-CoA dehydrogenase(IVD).Its morbidity is low,but mortality is high.There is no ef...BACKGROUND Isovaleric acidemia(IVA)is a rare autosomal recessive inherited organic acidemia caused by a genetic deficiency of isovaleryl-CoA dehydrogenase(IVD).Its morbidity is low,but mortality is high.There is no effective cure for this disease.Early identification of IVA using clinical features can significantly slow disease progression and reduce mortality.Here we report a Chinese neonate with two mutations of IVD and share valuable information on this disease.CASE SUMMARY A 12-day-old male neonate with“poor response for 1 d and repeated convulsions accompanied by high muscle tension for 6 h”was hospitalized.The patient was the first child of nonconsanguineous ethnic Chinese parents.He was delivered by cesarean section due to breech position at 39+1 wk of gestation with a birth weight of 3.27 kg.Initially,he suffered from dyspnea and rhinobyon,and at 10 d after birth the patient suddenly developed poor feeding,low response,lethargy and seizures.Organic acid analysis of blood and urine by tandem mass spectrometry and gas chromatography mass spectrometry showed extremely high concentrations of isovaleryl glycine.The patient had an acute episode of IVA causing severe metabolic stress and eventually died.CONCLUSION A new case of an IVA patient carrying c.1193G>A(p.Arg398Gln)and c.1208A>G(p.Try403Cys)mutations is reported in China.展开更多
Background Birth asphyxia may result in multiple organ dysfunction such as lung injury. Inhalation of nebulized nitric oxide precursor can selectively reduce pulmonary hypertension. However, it is unknown whether such...Background Birth asphyxia may result in multiple organ dysfunction such as lung injury. Inhalation of nebulized nitric oxide precursor can selectively reduce pulmonary hypertension. However, it is unknown whether such precursors can alleviate lung injury induced by hypoxia. We evaluated the effect of inhalation of nebulized nitroglycerine and sodium nitroprusside on acute hypoxic lung injury in newborn piglets. Methods Acute hypoxic lung injury was induced by inspiring 10% 02 for 1 hour. Twenty-four anaesthetized and mechanically ventilated piglets （5-7 days old） were randomly divided into four groups： （1） group S, not hypoxic; （2） group C, nebulized saline after hypoxia; （3） group NTG, nebulized nitroglycerine after hypoxia; （4） group SNP, nebulized sodium nitroprusside after hypoxia, Respiratory dynamic compliance and resistance of respiratory system were recorded at baseline, 0.5 hour and 1 hour of hypoxia; then 0.5 hour, 1 hour, 3 hours and 5 hours following hypoxia. After nebulization, arterial blood was collected for measuring methaemoglobin and nitrate/nitrite levels. Right lung tissue, wet-dry ratio and myeloperoxidase level were determined. White blood cell count （WBC）, total surfactant phospholipids （TPL） and disaturated phosphatidyl choline （DSPC） of the bronchoalveolar lavage fluid （BALF） were calculated. Left lungs were used for examining pathological changes. Results No significant difference was observed in respiratory dynamic compliance, resistance of respiratory system, wet-dry ratio, levels of methaemoglobin and nitrate/nitrite after nebulization, TPL or DSPC/TPL among four groups. WBC in BALF in groups NTG and SNP significantly decreased as compared with group C： similarly for myeloperoxidase level in lung tissue. Lung histological findings showed infiltration of neutrophils in groups NTG and SNP decreased significantly as compared with group C. Conclusion Inhalation of nebulized nitroglycerine or sodium nitroprusside can alleviate the infiltration of neutrophils, while it affects neither the metabolism of phospholipids nor water content in the lungs.展开更多
BACKGROUND ground Aspiration and evaluation of gastric residuals are commonly performed interventions before each feeding in intensive care units,especially in very low birthweight infants.However,there is no sufficie...BACKGROUND ground Aspiration and evaluation of gastric residuals are commonly performed interventions before each feeding in intensive care units,especially in very low birthweight infants.However,there is no sufficient evidence about the necessity of routine gastric residual aspiration.In this study,we aimed to investigate the time to full enteral intake and the incidence of necrotizing enterocolitis(NEC)in preterm infants in the period with gastric residual aspiration performed before each feeding,and those in the period without gastric residual aspiration.Methods Preterm infants with a gestational week≤33 were included in the study.The group with gastric residual control before each feeding consisted of 169 infants,and the group without routine gastric residual aspiration included 122 infants.results The mean gestational week was 30.37±2.58 and 29.31±3.37 in the group with gastric residual control and in the group without routine residual control,respectively(p<0.05).Birth weight,male gender,and mode of delivery were similar between both groups.The time to full enteral intake was shorter in the group without routine residual control(p<0.05).Total durations of parenteral nutrition,≥grade 2 NEC,weight at discharge and duration of hospitalization were similar between the groups.Duration of invasive mechanical ventilator support was shorter in the group without routine residual control.Conclusion Avoidance of routine gastric residual aspiration in preterm infants shortens the time to full enteral intake without increasing the incidence of NEC.展开更多
文摘BACKGROUND Isovaleric acidemia(IVA)is a rare autosomal recessive inherited organic acidemia caused by a genetic deficiency of isovaleryl-CoA dehydrogenase(IVD).Its morbidity is low,but mortality is high.There is no effective cure for this disease.Early identification of IVA using clinical features can significantly slow disease progression and reduce mortality.Here we report a Chinese neonate with two mutations of IVD and share valuable information on this disease.CASE SUMMARY A 12-day-old male neonate with“poor response for 1 d and repeated convulsions accompanied by high muscle tension for 6 h”was hospitalized.The patient was the first child of nonconsanguineous ethnic Chinese parents.He was delivered by cesarean section due to breech position at 39+1 wk of gestation with a birth weight of 3.27 kg.Initially,he suffered from dyspnea and rhinobyon,and at 10 d after birth the patient suddenly developed poor feeding,low response,lethargy and seizures.Organic acid analysis of blood and urine by tandem mass spectrometry and gas chromatography mass spectrometry showed extremely high concentrations of isovaleryl glycine.The patient had an acute episode of IVA causing severe metabolic stress and eventually died.CONCLUSION A new case of an IVA patient carrying c.1193G>A(p.Arg398Gln)and c.1208A>G(p.Try403Cys)mutations is reported in China.
文摘Background Birth asphyxia may result in multiple organ dysfunction such as lung injury. Inhalation of nebulized nitric oxide precursor can selectively reduce pulmonary hypertension. However, it is unknown whether such precursors can alleviate lung injury induced by hypoxia. We evaluated the effect of inhalation of nebulized nitroglycerine and sodium nitroprusside on acute hypoxic lung injury in newborn piglets. Methods Acute hypoxic lung injury was induced by inspiring 10% 02 for 1 hour. Twenty-four anaesthetized and mechanically ventilated piglets （5-7 days old） were randomly divided into four groups： （1） group S, not hypoxic; （2） group C, nebulized saline after hypoxia; （3） group NTG, nebulized nitroglycerine after hypoxia; （4） group SNP, nebulized sodium nitroprusside after hypoxia, Respiratory dynamic compliance and resistance of respiratory system were recorded at baseline, 0.5 hour and 1 hour of hypoxia; then 0.5 hour, 1 hour, 3 hours and 5 hours following hypoxia. After nebulization, arterial blood was collected for measuring methaemoglobin and nitrate/nitrite levels. Right lung tissue, wet-dry ratio and myeloperoxidase level were determined. White blood cell count （WBC）, total surfactant phospholipids （TPL） and disaturated phosphatidyl choline （DSPC） of the bronchoalveolar lavage fluid （BALF） were calculated. Left lungs were used for examining pathological changes. Results No significant difference was observed in respiratory dynamic compliance, resistance of respiratory system, wet-dry ratio, levels of methaemoglobin and nitrate/nitrite after nebulization, TPL or DSPC/TPL among four groups. WBC in BALF in groups NTG and SNP significantly decreased as compared with group C： similarly for myeloperoxidase level in lung tissue. Lung histological findings showed infiltration of neutrophils in groups NTG and SNP decreased significantly as compared with group C. Conclusion Inhalation of nebulized nitroglycerine or sodium nitroprusside can alleviate the infiltration of neutrophils, while it affects neither the metabolism of phospholipids nor water content in the lungs.
文摘BACKGROUND ground Aspiration and evaluation of gastric residuals are commonly performed interventions before each feeding in intensive care units,especially in very low birthweight infants.However,there is no sufficient evidence about the necessity of routine gastric residual aspiration.In this study,we aimed to investigate the time to full enteral intake and the incidence of necrotizing enterocolitis(NEC)in preterm infants in the period with gastric residual aspiration performed before each feeding,and those in the period without gastric residual aspiration.Methods Preterm infants with a gestational week≤33 were included in the study.The group with gastric residual control before each feeding consisted of 169 infants,and the group without routine gastric residual aspiration included 122 infants.results The mean gestational week was 30.37±2.58 and 29.31±3.37 in the group with gastric residual control and in the group without routine residual control,respectively(p<0.05).Birth weight,male gender,and mode of delivery were similar between both groups.The time to full enteral intake was shorter in the group without routine residual control(p<0.05).Total durations of parenteral nutrition,≥grade 2 NEC,weight at discharge and duration of hospitalization were similar between the groups.Duration of invasive mechanical ventilator support was shorter in the group without routine residual control.Conclusion Avoidance of routine gastric residual aspiration in preterm infants shortens the time to full enteral intake without increasing the incidence of NEC.
