To study the related substances in nicergoline, electrospray positive ionization high resolution TOF/MS was used for the determination of the accurate mass and elemental composition of the related substances. Triple quadrupoles tandem MS/MS was employed for the determination of the fragmentations of the parent ions. 16 related substances were detected and identified to be eight synthetic by-products and eight degradation products, by using impurity references matching, product mass spectra fragmentations elucidation, and verified further according to synthetic processes and stress testing results. The results obtained are valuable for nicergoline manufacturing process control and quality assurance.

Objective To investigate the methods of early identification and early intervention for newborn with life-threatening congenital heart disease.Methods Between January 2010 and December 2010,223 neonates with serious congenital cardiac malformations were hospitalized in PICU of Fuwai Hospi-tal.Results The most type of cardiac lesions was complete transposition of the great arteries,accounting for 59%(131 cases),and the second was total anomalous pulmonary venous connection,17%(39 cases).For the primary clinical symptoms,the most common were any cyanosis,dyspnea and cardiac murmur,accounting for 91 %(204 cases),56%(125 cases)and 53%(1 18 cases),respectively.Fifty-nine cases developed into critical conditions such as severe hypoxia,metabolic acidosis and heart failure and were sent to PICU for emergency rescue.Early intervention included maintaining ductus arteriosus open,correcting internal environ-ment disturbances,treatment of heart failure,and surgical treatment as soon as possible.Four cases died before operation and 10 cases were abandoned to continue care,which all died within 12 days after discharge.In 209 cases who received operation,9 cases died.The total operation mortality was 4.3%.Within 3 to 63 month following-up,the late death was in 2 cases,2 cases received two-stage corrective operation,and three for reop-eration.The others all were in normal cardiac function and growth.Conclusion Most of neonatal life-threat-ening congenital cardiac malformations were ductus dependent such as transposition of the great arteries and total anomalous pulmonary venous connection,which the baby needs immediate diagnosis and management for survival.Early recognition,appropriate preoperative management and operation as soon as possible are the key to rescue.

Objectives:To explore the GAA varient spectrum and the genotype-phenotype correlations in patients with glycogen storage disease type Ⅱ (Pompe disease, PD), as well as to estimate the disease incidence based on carrier rate of GAA varients in Guangzhou population.Methods:A total of 57 PD cases were retrospectively enrolled at Guangzhou Women and Children′s Medical Center from January 1, 2010 to May 31, 2020. All patients presented symptoms before the age of 18 years. Each diagnosis was further confirmed by GAA enzyme activity and GAA variants. The carrier rate of GAA varients was calculated based on variants detected by whole exon sequencing among 2 395 healthy children in Guangzhou.Results:Among the 57 PD patients (including male 26, female 31),twenty-eight patients with infantile onset PD (IOPD) presented with progressive general muscle weakness and cardiomyopathy. The mean ages of symptom onset and diagnosis were (2.5±1.4) and (5.0±3.0) months, respectively. Twenty-six cases died in the first year after birth.Twenty-three patients with late onset PD (LOPD) presented with progressive muscle weakness. Seven of them had respiratory failure at diagnosis. The mean ages of symptom onset and diagnosis were (12.0±5.0) and (17.0±7.5) years, respectively. Six children with atypical IOPD showed motor delay, muscle weakness and cardiomyopathy. Their diagnosis was confirmed at 2.5-7.0 years of age. Among the 57 patients, 47 different variants were identified in the GAA gene. Three variants: c.797C>T, c.1109G>A and c.1757C>T were novel. c.1935C>A (25/114, 21.9%) and c.2238G>C (15/114, 13.2%) were the most common variants, detected in 57.1% of IOPD and 65.2% (15/23) of LOPD patients, respectively. Among the 28 IOPD patients, 26 cases (92.9%) carried at least one missense variant which indicated positive cross-reactive immunologic material (CRIM). The carrier rate of pathogenic variants in GAA gene among healthy children was 24/2 395. The estimated incidence of PD in this population is about 1/40 000. The frequencies of pseudodeficiency variants c.1726G>A and c.2065G>A homozygotes were 26.3% (15/57) and 35.1% (20/57) in PD patients, which were significantly higher than those (1.7% (40/2 395) and 3.9% (94/2 395)) in healthy children (χ2=151.2, 121.9; both P<0.01). Conclusions:PD presents as a spectrum, some as atypical IOPD. The c.1935C>A and c.2238G>C are common variants, correlated with IOPD and LOPD respectively. The c.796C>T and c.1082C>T are usually found in atypical IOPD. The majority of IOPD patients is predicted to be CRIM positive. The estimated incidence of PD is about 1/40 000.

Objective     To recognize the risk factors of unplanned re-interventions within 30 days after pediatric cardiac surgery and evaluate the outcome of re-interventions. Methods     We retrospectively analyzed the clinical data of 202 children in Fuwai Hospital between January 1, 2015 and August 31, 2017. There were 115 males and 87 females at average age of 32.4 months with range of 3 days to 14 years. Results     There were 202 children who underwent unplanned re-intervention during 30 days post-operation, including 54 re-adjustments of pulmonary blood flow, 34 re-corrections for residual cardiac abnormalities, 28 cardiopulmonary resuscitations, 38 for coagulation problems, 19 pericardial drainages, 11 palliative re-operations to deliver heart load and 6 diaphragmatic folds and 12 others. The mortality rate among children who underwent unplanned re-inventions after cardiac surgery was 10.9% (22/202). It was much higher than those free from re-interventions (0.7%). Time of mechanical ventilation was 284.3 (11–2 339) h, and mean ICU stay was 17.7 (1–154) d, significantly longer than those free from re-interventions at the same period. Conclusion     Unplanned re-interventions after pediatric cardiac surgery is associated with higher mortality rate and longer recovery time. Early identifying risk factors and re-intervention can reduce the complications and improve the prognosis.