Congenital heart disease is one of the most common birth defects, which is the main cause of death in children.Cardiovascular development is a complex process involving multiple genes, signaling pathways and regulatory factors.According to the sequencing of human genome and encode project, more than 80% of the genes in the genome are transcribed, but only 3% of these transcripts correspond to protein-encoding RNA.It is pointed out that non-coding RNA is as important or even more important as encoding RNA.More and more evidences show that not only encoding genes are involved in the regulation of cardiovascular development, but also protein non-coding genes play an important role in the development of heart.This review will summarize the biological characteristic and function of long noncoding RNAs, and introduce the role of some representative lncRNA in heart development and congenital heart disease.

A method was developed for determination of thirteen amines including seven aliphatic amines, two heterocyclic amines and four aromatic amines in atmospheric particulate matter (PM) by gas chromatography-mass spectrometry (GC-MS). Samples were ultrasonically extracted with ultra-pure water and derivatized with benzenesulfonyl chloride (BSC) under alkaline conditions. The derivatives were extracted with dichloromethane and then detected by GC-MS using DB-5MS chromatographic column. The method detection limit (S/N=3) and quantitation limit (S/N=10) were 0.00008-0.017 μg/mL and 0.00026-0.0565 μg/mL respectively, and the correlation coefficients were 0.9903-0.9996, which indicated that the standard curve had good linear correlation. In addition, the relative standard deviation was less than 30％ and the average recovery was 54.4％-159.7％ except for methylamine and benzylamine at spiked level of 1.0 μg/mL, showing high precision and accuracy. 9 kinds of amines were detected in the PM2.5 samples collected in Guangzhou city by this method, among which dimethylamine and butylamine accounted for 90％ of the total nine amines, which indicated that they were primary amines in PM2.5; while propylamine exhibited the lowest level in PM2.5 with the concentration less than 1.0 ng/m3.

Volatility can influence the lifetime of particles in the atmosphere, and provide useful information on the formation of secondary aerosol. The previous studies generally utilized thermodenuder ( TD ) to investigate the volatility behavior of particles. Using TD, semivolatile species are vaporized at different temperature, and the vaporized gas is adsorpted by activated charcoal. However, carbon might be emitted from activated charcoal under high temperature or activated charcoal ageing. In this study, a new method was developed for the measurement of particle volatility by coupling a thermodiluter system to an online single particle aerosol mass spectrometer ( SPAMS) . Aerosol particles were passed into two different channels, and then analyzed by SPAMS. Through Channel 1, aerosol particles were heated to different temperature by heating tube, then non-volatile particles and volatile gas entered into the diluter. After diluting and cooling by diluent air, the non-volatile particles were analyzed by SPAMS. Through Channel 2, aerosol particles were analyzed directly by SPAMS without the heating process. Particle volatility was obtained by comparing the information ( particle size, particle number and mass spectrum ) of particles through Channels 1 and 2. Laboratory tests showed that the diluter could avoid the re-condensation of volatiles to the particles. This developed method was applied in the real time measurement of individual particle volatility in the spring of Guangzhou. The results showed that these particles were primarily comprised of highly volatile and moderate volatile species.

Objective To explore the application value of noninvasive cardiac output monitoring (NICOM) in children with sepsis. Methods A total of 51 children with sepsis admitted to pediatric inten-sive care unit in Chengdu Women and Children's Center Hospital were enrolled. They were divided into three groups:sepsis without cardiovascular functional disorder group( sepsis group,n＝16),septic shock compen-sation group (n＝22),septic shock decompensation group (n＝13). The cardiac function of the children was detected by NICOM and echocardiography at the time of admission 0 hours and 1 hours after admission re-spectively. Cardiac index (CI),stroke volume(SV) measured by NICOM and ejection fraction (EF),SV measured by echocardiography were recorded. The correlation between CI and EF at 0 hours and 1 hours after admission was analyzed,and the SV measured by the two methods were compared. Results (1) In the sep-sis group,the CI measured by NICOM was(3. 54 ± 0. 36) L/( min·m2) and EF measured by echocardio-graphy was (66. 9 ± 4. 4)%. There was a significant positive correlation between CI and EF(r＝0. 941,P<0.01).(2) In the septic shock compensation group,CI was (2.40 ±0.36) L/(min·m2) and EF was (51. 91 ± 4. 38)% at 0 hours after admission,and there was a positive correlation between CI and EF( r＝0. 751,P＝0. 023). CI was(2. 98 ±0. 37)L/(min·m2)and EF was(59. 41 ±4. 39)% at 1 hours after admis-sion,and there was a positive correlation between CI and EF (r＝0. 879,P＝0. 012). At 0 hours and 1 hours after admission,the value of SV measured by NICOM was very close to that measured by echocardiography, and there was no significant difference(P>0. 05). (3) In the septic shock decompensation group,CI was (1.26 ±0.28) L/(min·m2) and EF was (41.23 ±4.73)% at 0 hours after admission,and there was no positive correlation between CI and EF(r＝0. 515,P＝0. 121). CI was(1. 61 ± 0. 32)L/(min·m2)and EF was(47. 77 ± 6. 19)% at 1 hours after admission,and there was no positive correlation between CI and EF (r＝0. 531,P＝0. 085). There was significant difference between the value of SV measured by NICOM and that measured by echocardiography at 0 hours and 1 hours after admission (P<0. 05). Conclusion NICOM can accurately evaluate cardiac output when the hemodynamics is stable,but the results are not accurate when the hemodynamics is unstable. NICOM has certain application value in pediatric critical care.

Congenital heart disease(CHD)is one of the most common genetic diseases, mainly refers to the abnormal cardiovascular development caused by various abnormal factors during fetal development.Studies have found that the normal development of cardiovascular functional structure requires accurate positioning of the left-right asymmetry.As an essential link in body material metabolism and signal-transducing mechanism, cilia may participate in the pathogenesis of CHD by affecting the distribution of the left-right asymmetry of human organs and tissues during embryonic development.Therefore, a thorough understanding of the role, molecular mechanism, and related regulatory genes of cilia in CHD can provide accurate diagnosis and treatment for clinical work to obtain a better prognosis.Here we review the effects of cilia on the positioning of the left-right asymmetry during embryo development and its role in the pathogenesis of CHD.

Objective:To study the past 10 years' experiences of neonatal hydrocephalus in a single-center.Methods:From January 2010 to December 2019, clinical data of infants with hydrocephalus admitted to Neonatology Department of our hospital were retrospectively analyzed. The infants were assigned into different groups according to gestational age, different etiologies and treatments. Their clinical characteristics and outcomes were compared.Results:A total of 223 infants with hydrocephalus were included. 136 (61.0%) infants were in the preterm group and 87 (39.0%) in the full-term group. The incidence of post-intracranial hemorrhage (ICH) hydrocephalus in preterm infants was significantly higher than full-term infants ( P<0.001). According to the etiologies, 58 infants (26.0%) had congenital hydrocephalus (congenital group), 82 cases (36.8%) developed post-ICH hydrocephalus (ICH group), 48 cases (21.5%) had post-CNS-infection hydrocephalus (infection group) and 35 cases (15.7%) had post-ICH+CNS-infection hydrocephalus (ICH+infection group). The incidences of perinatal asphyxia, neonatal resuscitation and endotracheal intubation within 3 d after birth in the ICH group were significantly higher than the other groups ( P<0.05). Among the four groups, the infection group had the highest incidence of neonatal sepsis, the congenital group had the highest incidence of patent ductus arteriosus and the ICH group had the highest incidence of respiratory diseases (all P<0.05).137 cases (61.4%) received non-surgical therapy, 48 cases (21.5%) had temporary drainage, 37 cases (16.6%) with permanent shunt and 1 case (0.4%) intracranial hematoma removal. The congenital group and ICH group with permanent shunt showed significantly higher rate of improvement than temporary drainage group and non-surgical group ( P<0.001). Conclusions:The main etiologies of neonatal hydrocephalus are ICH and CNS infection. The incidence of post-ICH hydrocephalus in premature infants was quite high. Hydrocephalus of different etiologies have different comorbidities. Maternal and infant care during pregnancy and delivery, prevention of neonatal sepsis and ICH are crucial in the prevention of hydrocephalus. More studies are needed for better treatment.

Background::Heterotaxy (HTX) is a thoracoabdominal organ anomaly syndrome and commonly accompanied by congenital heart disease (CHD). The aim of this study was to analyze rare copy number variations (CNVs) in a HTX/CHD cohort and to examine the potential mechanisms contributing to HTX/CHD.Methods::Chromosome microarray analysis was used to identify rare CNVs in a cohort of 120 unrelated HTX/CHD patients, and available samples from parents were used to confirm the inheritance pattern. Potential candidate genes in CNVs region were prioritized via the DECIPHER database, and PNPLA4 was identified as the leading candidate gene. To validate, we generated PNPLA4-overexpressing human induced pluripotent stem cell lines as well as pnpla4-overexpressing zebrafish model, followed by a series of transcriptomic, biochemical and cellular analyses. Results::Seventeen rare CNVs were identified in 15 of the 120 HTX/CHD patients (12.5%). Xp22.31 duplication was one of the inherited CNVs identified in this HTX/CHD cohort, and PNPLA4 in the Xp22.31 was a candidate gene associated with HTX/CHD. PNPLA4 is expressed in the lateral plate mesoderm, which is known to be critical for left/right embryonic patterning as well as cardiomyocyte differentiation, and in the neural crest cell lineage. Through a series of in vivo and in vitro analyses at the molecular and cellular levels, we revealed that the biological function of PNPLA4 is importantly involved in the primary cilia formation and function via its regulation of energy metabolism and mitochondria-mediated ATP production. Conclusions::Our findings demonstrated a significant association between CNVs and HTX/CHD. Our data strongly suggested that an increased genetic dose of PNPLA4 due to Xp22.31 duplication is a disease-causing risk factor for HTX/CHD.

Congenital heart disease (CHD) is the most common birth defect worldwide. Long non-coding RNAs (lncRNAs) have been implicated in many diseases. However, their involvement in CHD is not well understood. This study aimed to investigate the role of dysregulated lncRNAs in CHD. We used Gene Expression Omnibus data mining, bioinformatics analysis, and analysis of clinical tissue samples and observed that the novel lncRNA SAP30-2:1 with unknown function was significantly downregulated in damaged cardiac tissues from patients with CHD. Knockdown of lncRNA SAP30-2:1 inhibited the proliferation of human embryonic kidney and AC16 cells and decreased the expression of heart and neural crest derivatives expressed 2 (HAND2). Moreover, lncRNA SAP30-2:1 was associated with HAND2 by RNA immunoprecipitation. Overall, these results suggest that lncRNA SAP30-2:1 may be involved in heart development through affecting cell proliferation via targeting HAND2 and may thus represent a novel therapeutic target for CHD.
Basic Helix-Loop-Helix Transcription Factors ; Cell Proliferation ; Heart Defects, Congenital/genetics* ; Histone Deacetylases ; Humans ; RNA, Long Noncoding/genetics* ; Transcription Factors