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Objective:To evaluate the value of monitoring regional cerebral oxygen saturation (rSO 2) in the prognosis of comatose children in pediatric intensive care unit (PICU). Methods:A total of 127 coma children who admitted to PICU at Henan Children′s Hospital from January 2019 to September 2021 were collected and divided into mild[Glasgow coma score(GCS): 13-15], moderate(GCS: 9-12) and severe coma(GCS: 3-8) groups according to GCS.A cerebral oxygen monitor was used to monitor the rSO 2 of all children before treatment, and on the 3rd, 7th and 14th day after treatment.The outcomes were assessed according to the pediatric cerebral performance category (PCPC), and the children were divided into recovery group(PCPC score: 1), disability group(PCPC score: 2-4) and poor prognosis group(PCPC score: 5-6). Multiple linear regression and receiver operating characteristic(ROC) curve were used to analyze the correlation between rSO 2 and PCPC score. Results:rSO 2 in mild, moderate and severe coma groups before treatment were (78.06±3.21)%, (66.07±6.05)%, and (52.87±6.49)%, respectively ( F=209.263, P<0.05). rSO 2 before treatment was positively correlated with GCS( r=0.806, P<0.05). There were significant differences in rSO 2 among recovery group, disability group and poor prognosis group before treatment and that on the 3rd, 7th and 14th day after treatment ( P<0.05). Notably, rSO 2 in recovery group was higher than that in disability group, and rSO 2 in disability group was higher than that in poor prognosis group.The rSO 2 of three groups showed an increasing trend over time ( P<0.05). Multiple linear regression analysis showed that rSO 2 on the 7th and 14th day of treatment were independent prognostic factors ( OR -0.042, 95% CI -0.082~0.003, P<0.05; OR -0.047, 95% CI -0.094~0.000, P<0.05). ROC analysis showed that rSO 2 on the 7th day of treatment had a relatively higher prognostic value for children in coma, and the area under the ROC curve for predicting the prognosis of abnormal brain function and no wakefulness were 0.741 and 0.746, respectively. Conclusion:Monitoring rSO 2 has predictive value for the prognosis of brain function of coma children in PICU, in which the prognostic value of rSO 2 on the 7th day after treatment is relatively higher and can be used as a reference index for prognosis assessment of coma children in PICU.
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OBJECTIVE@#To conduct clinical and genetic analysis of two male patients with atypical Rett syndrome.@*METHODS@#Collection of clinical data in the two patients and these parents; whole exome sequencing (WES) was used to detect the potential variants, which were verified by Sanger sequencing. X chromosome inactivation (XCI) detection is performed in the Patient 1's mother to detect the allelic expression difference of the MECP2 gene.@*RESULTS@#Patient 1, a 5-year and 10-month-old boy, had mental disorders and mild intellectual disability (ID) (IQ: 54), whose mother had ID. Patient 2 was a 9-month and 18-day-old male presented with recurrent infections, respiratory insufficiency, hypotonia and global developmental delay. WES indentified a hemizygous mutation, c.499C>T (p.R167W), in the MECP2 gene in patient 1, which was inherited from his mother. The inactivation of X chromosome is skewed, and the expression ratio of wild-type and mutant MECP2 is 100%:0. Patient 2 was found a de novo splicing mutation, c.62+2_62+3del in the MECP2 gene. They were both reported pathogenic variant related to Rett syndrome. c.499C>T (p.R167W) was defined as likely pathogenic (PS1+PM2+PP3) and c.62+2_62+3del was pathogenic (PVS1+PM2+PM6) based on American College of Medical Genetics and Genomics standards and guidelines.@*CONCLUSION@#Both the two patients were diagnosed with rare male Rett syndrome, which had atypical clinical manifestations and large difference. Above foundings have revealed novel phenotypes in Chinese male patients with Rett syndrome.
Subject(s)
Female , Humans , Male , Craniosynostoses , Genetic Testing , Intellectual Disability/genetics , Methyl-CpG-Binding Protein 2/genetics , Mutation , Phenotype , Rett Syndrome/geneticsABSTRACT
Objective@#To analyze the clinical characteristics of community-acquired pneumonia (CAP) in children under five years of age and analyze the safety and efficiency of nasal continuous positive airway pressure (NCPAP) ventilation for CAP in this population.@*Method@#This was a prospective multicenter study. Children who were admitted to these six centers with CAP and met the NCPAP ventilation indications, aged from 29 d to 5 years, were continuously included during November 2013 to October 2015. The baseline data were collected and NCPAP ventilation were then followed up by operation standards, and the vital signs and arterial blood gas change at special time points were observed and recorded. Any side effect associated with NCPAP were recorded. For categorical variables, comparisons were performed using Fisher test. Rank-sum test and t test were performed respectively for abnormal and normal distribution continuous variables. The variables pre-NCPAP and post-NCPAP were analyzed by repeated measures ANOVA analysis.@*Result@#Totally 145 children were included, and 13 children were excluded due to incomplete data. One hundred and two children(77.3%)were ≤12 months; 91 children (68.9%) were from rural area. NCPAP ventilation was effective in 123 children, with a response rate of 93.2%, were all discharged with a better condition; it was ineffective in 9 children(6.8%), and they were all intubated and went on mechanical ventilation, 5 were discharged with a better condition, and 4 died after gaving up treatment. The gender, age, body weight, residence, main symptoms, main signs, imaging diagnosis, medications, partial pressure of oxygen(PaO2), breath and heart rate before NCPAP treatment of two groups had no significant differences(allP>0.05). The rates of combining underlying diseases, trouble with feeding and cyanosis, and the partial pressure of carbon dioxide(PaCO2 ) before NCPAP ventilation were higher in NCPAP ineffective group ((59±11 )vs.( 49±11) mmHg, 1 mmHg=0.133 kPa, t=-2.597, P=0.028); while the PaO2/fraction of inspiration O2 (FiO2 ) before NCPAP was lower((150±37) vs. (207±63) mmHg, t=2.697, P=0.008). The breathing, heart rate and PaCO2 of NCPAP effective group decreased significantly, while the PaO2 and PaO2/FiO2 increased significantly after 2, 8, 24 h of NCPAP ventilation(all P=0.000). PaCO2 in children with hypercapnia before NCPAP ventilation in NCPAP effective group decreased significantly ((48±9), (47±12), (45±11)vs.(58±7)mmHg, all P=0.000). All children tolerated well to NCPAP ventilation, and there were no severe side effects or complications associated with NCPAP ventilation.@*Conclusion@#NCPAP ventilation is safe and effectively improved the oxygenation and hypercapnia in infants with CAP. But it may not work well in children with underlying diseases, manifest as difficulty in feeding/cyanosis and extremely high PaCO2 or low PaO2/FiO2, and they may need early intubation.