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Objective:To assess the efficacy of the newly constructed system for screening, managing and monitoring congenital heart disease (CHD) in neonates of Hainan Province, thus providing references for a further promotion.Methods:Clinical data of neonatal CHD in Hainan Province from January 1, 2019 to December 31, 2021 were retrospectively analyzed, including screening, diagnosis and treatment, prognosis and follow-up.Relying on Hainan Women and Children′s Medical Center as the leading unit, a neonatal CHD screening, diagnosis, treatment, and monitoring system was established.A dual-indicator method was adopted, that was, screening staffs in Hainan Province performed CHD screening in living neonates by cardiac auscultation and pulse oximetry (POX) within 6-72 h after birth.Echocardiographic examinations for the screened living neonates were performed in the 31 authorized diagnosis institutions.Evaluations, interventions and treatment of living neonates with CHD were performed in 6 authorized tertiary hospitals.Data of screening, diagnosis, evaluation and treatment were filled in, uploaded and managed online through the neonatal CHD screening information management system.The research team of our hospital was responsible for the data management and monitoring.Results:From January 1 st, 2019 to December 31 st, 2021, there were 329 387 living neonates in Hainan Province, and 321 447 (97.59%) were screened for CHD, and the annual screening rate increased year by year.The positive rate of CHD screening was 2.50%(8 032/321 447). The rate of cardiac ultrasound examination within 1 week of CHD positive screening was 94.66%(7 603/8 032). The referral rate of severe CHD was 100.00%(154/154). The overall prevalence of CHD in neonates of Hainan Province was 3.419‰ (1 099/321 447). Atrial septal defect was the most common CHD lesion, with a proportion of 38.40%(422/1 099). The sensitivity of cardiac auscultation, POX and their combination for CHD detection were 69.15%, 33.49% and 91.90%, respectively, and the specificity were 98.36%, 99.43% and 97.81%, respectively.At the initial screening, the ratio of dual-positive of cardiac auscultation and POX in neonates with severe CHD (serious and critical CHD) was significantly higher than that of a single positive indicator ( χ2=36.502, 46.214, respectively; all P<0.001). All neonates with CHD were evaluated.Fifteen neonates with severe CHD died.From 2019 to 2021, the standardized mortality rate of children aged 0-1 years with CHD in Hainan province was 4.67/100 000 (15/321 447). Conclusions:Dual-indicator screening for CHD (cardiac auscultation plus POX) is reliable, non-invasive, and simple, which is conducive to be clinically promoted.Introducing and promoting an appropriate technology for screening, diagnosis, and evaluation of neonatal CHD are extremely significant since they may have contributed to the timely diagnosis and treatment of CHD, especially severe CHD, thus lowering the mortality.
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Objective:To investigate the key points of diagnosis and treatment of glycogen storage disease type Ⅱ(GSD Ⅱ).Methods:The clinical data of one child patient with GSD Ⅱ who received treatment in Hainan Children's Hospital on May 7, 2017 were retrospectively analyzed.Results:The child presented with atypical clinical manifestations, including pneumonia first, accompanied by muscle weakness and elevated muscle enzymes. Whole-genome sequencing showed that there were two heterozygous mutations in the acid alpha-glucosidase (GAA) gene, c.871C > T and c.1447G > A. The child was diagnosed with GSD Ⅱ.Conclusion:GSD Ⅱ has atypical clinical manifestations. It is easily misdiagnosed. Early whole-genome sequencing is helpful for the diagnosis of GSD Ⅱ.
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Objectives To study the value of cough peak expiratory lfow (CPEF) in predicting extubation outcome of children with acute respiratory failure. Methods A total of 62 children with acute respiratory failure were selected and received mechanical ventilation longer than 72 hours. They were conscious at the time of extubation and successfully got through 30 minutes of spontaneous breathing trial. Children were divided into success group and failure group according to the outcome of extubation. CPEF, pulmonary function parameters, blood gas analysis and pediatric critical illness scores were compared before extubation between two groups. Results Fifty-two cases were successfully extubated but 10 cases failed. CPEF of the success group was signiifcantly higher than that of the failure group (P<0.01). Based on the results of receiver operating characteristic curves, the area under the curve was 0.873. The optimal operating point of CPEF was 40.5L/min, and the sensitivity and speciifcity were 76.9%and 90.0%, respectively (P<0.01). Conclusions It is suggested that CPEF can be used as a predictor of extubation outcome.