The results implied that: (i) the plasma amino acid profile was unique, in comparison to other liver diseases; (ii) the plasma concentration of each of the (mentioned above) six amino acids was a significant predictor of prognosis; and (iii) suppression of protein catabolism, as suggested by the higher concentrations in isoleucine and leucine in the non-survivors, prevention of glutamine-induced brain edema, correction of alkalosis, and supplementation with ornithine or arginine may improve the prognosis of life.
In ten families with late-onset ornithine transcarbamylase (OTC) deficiency in male patients, three mutant alleles-R40H, R277W, and Y55D-were identified. In a total of 20 informative parent-offspring pairs, father-to-daughter transmission and mother-to-offspring transmission occurred in five (25%) and 15 (75%), respectively, indicating that paternal transmission contributes substantially to the pool of these mutant alleles. Relative reproductive fitness of males and females carrying the mutant alleles was calculated to be 0.49 and 0.89, respectively. Comparison of the life span of the mutant alleles, estimated on the basis of these fitness values with those associated with classic phenotype (neonatal onset) in which reproductive fitness of male patients was nil, revealed that mutant alleles associated with the late-onset phenotype were eliminated more slowly. This would allow the late-onset phenotype mutant alleles to be retained more frequently in a population than those associated with classic phenotype. Although heterozygous females carrying the late-onset phenotype mutant alleles were generally asymptomatic, one female carrying the R40H allele died after a hyperammonemic episode at the age of 18 years. Such heterozygous females should be alerted to possible hyperammonemic crisis.
BackgroundsEnvironmental factors during early life alter the hypothalamus-pituitary-adrenal (HPA) axis regulation and increase the risk of diseases in later life. However, adrenal function at each developmental stage has not fully been investigated in relation to pathological antenatal conditions. Cortisol levels of newborns with intrauterine growth restriction (IUGR) are elevated during the neonatal period; however, when studied during early childhood, cortisol levels are reduced compared with their peers, suggesting that the HPA axis regulation might be altered from activation to suppression, the timing of which remains uncertain.AimThe aim of this study was to assess the presence of an interaction between intrauterine growth and postnatal age on cortisol levels in newborns hospitalised at a neonatal intensive care unit.MethodsWe performed a secondary analysis using a dataset from saliva samples of 62 newborns collected between 30 and 40 weeks corrected age. Interactions between postnatal age and clinical variables with regard to cortisol levels were assessed.ResultsThe z-score of the birth weight and IUGR showed significant interactions with postnatal age on cortisol levels; cortisol levels were higher ≤5 days of birth and lower >14 days of birth than those in their peers without IUGR.ConclusionThe adrenal function of newborns with IUGR might be altered from activation to suppression within the first several weeks of life. Longitudinal studies need to address when/how IUGR alters adrenal functions, and how these responses are associated with diseases during adulthood.
Feeding-induced cortisol response was observed in newborns. The cortisol response was more prominent following oral feeding and was reduced with prolonged feeding. Future studies may investigate whether feeding-induced cortisol response plays a role in the acquisition of adrenal ultradian and diurnal rhythms.
Aim: Precise estimation of respiratory function is essential to optimise neonatal respiratory care. However, current clinical scores have not been validated with quantitative measures of respiratory function. The aim of this study was to develop a physiological scoring system to predict low respiratory dynamic compliance of <0.6 ml/cmH 2 O/kg. Methods: Forty-four newborn infants were studied before (dynamic compliance) and shortly after scheduled extubation (physiological signs). A novel scoring system was developed based on the association between physiological signs and dynamic compliance. Results: The respiratory rate was identified as the primary independent variable for dynamic compliance in the univariate analysis. The prediction score for low dynamic compliance comprised the presence of nasal flaring, see-saw respiration, suprasternal/intercostal retraction, and the respiratory rate ranks (0e3). The area under the receivereoperating characteristics curve of the composite score had discriminatory capability of 0.86 (95% confidence interval: 0.75e0.97) to predict low dynamic compliance with the optimal cut-off value of !3 (sensitivity, 0.882; specificity, 0.667).
Adult patients frequently suffer from serious respiratory complications during therapeutic hypothermia. During therapeutic hypothermia, respiratory gases are humidified close to saturated vapor at 37°C (44 mg/L) despite that saturated vapor reduces considerably depending on temperature reduction. Condensation may cause serious adverse events, such as bronchial edema, mucosal dysfunction, and ventilator-associated pneumonia during cooling. To determine clinical variables associated with inadequate humidification of respiratory gases during cooling, humidity of inspiratory gases was measured in 42 cumulative newborn infants who underwent therapeutic hypothermia. Three humidifier settings of 37-default (chamber outlet, 37°C; distal circuit, 40°C), 33.5-theoretical (chamber outlet, 33.5°C; distal circuit, 36.5°C), and 33.5-adjusted (optimized setting to achieve 36.6 mg/L using feedback from a hygrometer) were tested to identify independent variables of excessively high humidity >40.7 mg/L and low humidity <32.9 mg/L. The mean (SD) humidity at the Y-piece was 39.2 (5.2), 33.3 (4.1), and 36.7 (1.2) mg/L for 37-default, 33.5-theoretical, and 33.5-adjusted, respectively. The incidence of excessive high humidity was 10.3% (37-default, 31.0%; 33.5-theoretical, 0.0%; 33.5-adjusted, 0.0%), which was positively associated with the use of a counter-flow humidifier (p < 0.001), 37-default (compared with 33.5-theoretical and 33.5-adjusted, both p < 0.001) and higher fraction of inspired oxygen (p = 0.003). The incidence of excessively low humidity was 17.5% (37-default, 7.1%; 33.5-theoretical, 45.2%; 33.5-adjusted, 0.0%), which was positively associated with the use of a pass-over humidifier and 33.5-theoretical (both p < 0.001). All patients who used a counter-flow humidifier achieved the target gas humidity at the Y-piece (36.6 ± 0.5 mg/L) required for 33.5-adjusted with 33.5-theoretical. During cooling, 37-default is associated with excessively high humidity, whereas 33.5-theoretical leads to excessively low humidity. Future studies are needed to assess whether a new regimen with optimized Y-piece temperature and humidity control reduces serious respiratory adverse events during cooling.
Neonates often develop transition problems after low-risk birth, precise assessment of which is difficult at primary birth centres. the aim of this study was to assess whether a video triage system can be established without a specially designed communication system between local birth centres and a tertiary neonatal intensive care unit in a region with a population of 700,000. 761 neonates who were referred to a tertiary neonatal intensive care unit were examined. During period 1 (April 2011-August 2015), only a voice call was available for consultations, whereas, during period 2 (September 2015-December 2017), a video call was additionally available. The respiratory condition was assessed based on an established visual assessment tool. A video consultation system was established by connecting personal smartphones at local birth centres with a host computer at a tertiary neonatal intensive care centre. During period 2, video-based triage was performed for 42.4% of 236 consultations at 30 birth centres. Sensitivity and specificity for predicting newborns with critical respiratory dysfunction changed from 0.758 to 0.898 and 0.684 to 0.661, respectively. A video consultation system for ill neonates was established without major instalment costs. our strategy might improve the transportation system in both high-and low-resource settings. Approximately 10% of newborns require some form of special care before spontaneous breathing is established 1. To improve the outcomes of high-risk foetuses, antenatal diagnoses and maternal transportation to higher-level birth centres have been encouraged 2. However, for newborns born near term and at term, who require advanced care because of transition failure, abnormal clinical signs are often unnoticed until much later after birth 3. Dissemination of an evidence-based program of neonatal cardiopulmonary resuscitation (NCPR) led to improved support for ill newborns worldwide 4,5. However, newborns who cannot establish spontaneous breathing need to be transferred to neonatal intensive care units (NICUs) for advanced care support. Indeed, a large-scale survey in Japan conducted in 2012 showed that 20.5% of 55,331 newborns admitted to NICUs were transferred from primary/secondary birth centres after birth 6. Although careful assessments are essential for precise triage decisions, currently, there is no established system for evaluating the conditions of newborns before transportation, potentially leading to diagnostic discordance between the reason for transport and final diagnosis, as reported in paediatric transport 7. Our group has previously developed a visual assessment scale that can objectively predict which ill newborns have low respiratory compliance 8. Implementing such a scale with a video
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