Objective To systematically assess the prevalence of perinatal congenital heart disease (CHD). Methods PubMed, EMBASE, CNKI, VIP, Wanfang from January 1980 to March 2011 were searched. Two reviewers assessed the quality of included studies, extracted data. Statistical analysis was performed employing Stata 10.0. Results The literatures identified nine birth defect databases and 10 hospital-based epidemiological studies were searched. Eight birth defect databases included perinatal infants at more than 20 weeks of gestation; only one birth defect database from China included perinatal infants at more than 28 weeks of gestation. The hospital-based epidemiological studies from India and Nigeria included perinatal infants at more than 28 weeks of gestation; the remaining studies included perinatal infants at more than 20 weeks of gestation. The included studies were analyzed according to different economic zones. The meta-analysis showed that the highest income economy zone had the highest incidence of perinatal CHD (10.0‰; 95% CI: 9.0‰-12.0‰), and the lowest income economy zone had the lowest incidence of perinatal CHD (2.0‰; 95% CI: 2.0‰-5.0‰). The incidence of perinatal CHD was 2.0‰ (95%CI: 1.0‰-4.0‰) in perinatal infants at more than 28 weeks of gestation, and 10.0‰ (95%CI: 5.0‰-15.0‰) in those at more than 20 weeks of gestation. ConclusionThe current Meta-analysis based on the epidemiological studies of perinatal CHD shows that the overall prevalence of perinatal CHD was 9.0‰ (95% CI: 5.0‰-12.0‰). Different economic levels were associated with different incidences of perinatal CHD, the higher economic levels, the higher incidences of perinatal CHD
Objective To evaluate the effect of anthropometric training on the reliability of infant anthropometric measurements in routine clinic practice in Chongqing. Methods A convenient sample of infant measurements was collected by child primary care clinicians (trainee) in 5 selected urban primary care hospitals before (March and October 2010) and after training(from March to October 2011). Trainees measured recumbent and crown-rump lengths and head circumference using typical methods before training and standardized methods after training in routine clinic practice; child healthcare nurses (standard measurer) performed re-measurement using standardized anthropometric techniques. Intra- and inter-observer measurement reliability was assessed mainly using technical error of measurement (TEM), mean absolute difference (MAD) and the percentages of differences within a critical value (PDCV). The changes of reliability of measurements collected during the two periods were compared. Results A total of 739 and 497 infants' measurements were collected before and after training respectively. Intra-observer MADs for length, crown-rump length and head circumference collected by standard measurers were not significantly different (P>0.05). Inter-observer MADs and TEMs of recumbent and crown-rump lengths and head circumference among trainees and standard measurers were 0.68 cm, 0.83 cm, 0.45 cm and 0.64 cm, 0.79 cm, 0.42 cm before training, and 0.40 cm, 0.51 cm, 0.28 cm and 0.38 cm, 0.46 cm, 0.25 cm after training, respectively. The MADs of the three measurements were significantly smaller after training than before training. The PDCVs for the three measurements were significantly higher after training than before training. Intra-observer MADs of the three measurements collected by trainees were significantly smaller after training than before training. There were still about 4.9%, 7.9% and 11.5% of length, crown-rump length and head circumference measurements with mistake after training. Conclusion After training, the recumbent, crown-rump lengths and head circumference measurements show good reliability, greatly improved compared with pre-training.
Objective To establish the effective evaluation of physiological and pathological fetal tricuspid regurgitation (TR). Methods Fetal TR cases were retrospectively collected. The results of ultrasound after birth or fetal autopsy because of abortion were collected. A standard four-chamber view and ductus venosus view were gained through fetal chest and abdomen by high-resolution color Doppler ultrasound to measure TR peak velocity, TR jet area/right atrial area ratio (TRJA/RAA) and diameter ratio of right atrium/left diameter ratio (RAD/LAD) in end-systolic phase and to observe whether ductus venosus jet in atrial systolic phase decreased, deleted or inversed. Different combinations of these four indicators were used to determine pathological or physiological fetal TR. Results ① There were 162 cases in physiological fetal TR group. TR peak velocity of fetal TR was 114.0 cm · s-1, TRJA/RAA was 16.6% and RAD/LAD was 1.075. The average velocity of ductus venosus A wave was 34.8 cm · s- 1 with all flow to the heart. A wave inversion or disappearance was not found. ② There were 39 cases in pathological fetal TR group. TR peak velocity of pathological fetal TR group (261 cm · s-1) was faster than that of physiological fetal TR group (114.0 cm · s-1). TRJA/RAA was 52.3%, about twice higher than that of physiological fetal TR group. RAD/LAD was 1.274, also higher than that of physiological fetal TR group. The average velocity of ductus venosus A wave was 3.8 cm · s-1 with 12 cases of inversion, 5 cases of disappearance and 3 cases of reduction. ROC curves of 4 parameters were plotted to obtain the critical value. Any one of four parameters had high specificity (87.7% to 100%) and low sensitivity (48.6% to 69.8%). The TR peak velocity and TRJA/RAA were merged into one index, plusing RAD/LAD and ductus venosus A wave inversion or deletion to determine pathological TR, of which sensitivity was 88.6% and specificity was 92.0%. Conclusion It is helpful to improve the sensitivity and specificity of pathologic fetal TR using the parameters of fetal ultrasound combined valvular disease and beforeload and afterload of right ventricular function.
Objective To describe the epidemiological and clinical features in outpatients and inpatients with acute diarrhea caused by adonovirus in Beijing. Methods Polymerase chain reaction (PCR) was employed to identify adenovirus in fecal samples by using DNA template obtained by improved DNA extraction method developed previously. PCR products with expected size were sequenced for adenovirus typing. After that, positive cases were measured by rotavirus antigen detection kit (colloidal gold method). Statistical analyses were performed by using SPSS software (version 19.0). Results A total of 3 357 diarrheal patients were enrolled into the study, including 862 outpatients and 2 495 inpatients. ①The detection rate of adenovirus was 10.2% (341/3 357). Adenovirus was positive in 70 cases (8.1%) of 862 outpatient diarrheal children including 40 cases of enteric adenovirus (EAd) and 30 cases of non-enteric adenovirus (NEAd), and in 271 cases (10.9%) of 2 495 inpatients with acute diarrhea including 114 cases of EAd and 157 cases of NEAd. Adenovirus serotype 41 and Ad40 were the dominant EAd among outpatients and inpatients. Ad31 and Ad2 were common NEAd serotypes among outpatients, and Ad31 and Ad7 common in inpatients. There was significant difference in detection rate of adenovirus (P=0.022) and NEAd (P=0.002). ②The detection rate of adenovirus in boys and girls of outpatients was 9.0% and 6.5%, and 11.7% and 9.5% of inpatients, respectively. There was no difference in sex for adenovirus infection among diarrheal children either in outpatients(P=0.112) or in inpatients(P=0.080). ③The detection rate of outpatients aged 0-6 months, -1 year, -2 years and -6 years was 4.4%, 7.7%, 11.6% and 12.3%, respectively and significant differences were found among different age groups (P=0.017). The detection rate of inpatients aged 0-28 days, -6 months, -1 year, -2 years and -6 years was 4.4%, 9.4%, 13.2%, 12.3% and 13.4%, respectively and with significant differences among age groups (P=0.001). ④Seasonal variation in adenovirus detection rates was not found in outpatients or inpatients. ⑤Eight outpatients co-infected with rotavirus and 29 inpatients were positive for rotavirus at the same time. There was no significant difference(P=0.862) between outpatients (11.4%, 8/70) and inpatients (10.7%, 29/271). Conclusion EAd is still the dominant adenovirus serotype detected either in outpatient or in hospitalized diarrheal children in Beijing, and Ad41 is the dominant type. But the role of NEAd, especially the Ad31 cannot be ignored in children with acute diarrhea.
Objective To investigate globin genes of suspected thalessemia patients whose screening indicators were positive and regular gene detection were negative, and to explore novel types of gene mutation. Methods Consecutive patients with positive blood screening (Hb, MCV, MCH and HbA2, HbF) and negative regular gene detection (3 types of deleted α-thalessemia,3 types of nondeleted α-thalessemia, 17 types of nondeleted β-thalessemia) were enrolled at Shenzhen Children's Hospital. Whole blood genomic DNAs were extracted and sent for further regular gene and rare gene detection in Sanger sequence，Gap-PCR and real-time PCR. Results 285 patients collected from Jan. to Sep. 2011 were recruited, 21 cases with genetic abnormality were observed (accounting for 7.4%). ①5 cases (1.8%) were positive for regular gene detection, including CD27-28（+C）（2 cases）、CD41-42（-TCTT）（2 cases），IVS-2-654（C>T）（1 case）. ② Rare gene detection was positive in 16 cases (5.6%). One case of Hb Ernz was firstly reported in Asian populations, one rare hemoglobin variant of Hb Port Phillip and more common hemoglobin variant of Hb J-Bangkok were found. Nondeleted β-thalessemia was determined，containing -90（C>T）（2 cases）. The deleted types of thalessemia were -α/αα(2 cases), --/αα(3 cases), --/α combined -/β(1 case) and -/β(3 cases). Of the detected α-thalessemia, they were all not common types. Two cases of α-triplication (αα/ααα) were detected. ③ 99 of 264 cases with negative gene detection results were performed the blood test. Serum ferritin levels of 60 cases were lower than normal, of them 44 cases were with low Hb and/or MCV and/or MCH level. Three cases were diagnosed as anemia with elevated serum ferritin level. Conclusion Since 7% of thalessemia mutation was found in suspected cases with negative results in regular mutation detection, further genomic testing should be necessary in clinical practice.
Objective To investigate the relationships between the brain volume, bigparital diameter, gestainal age and head circumference measured by virtual organ computer-aided analysis of three-dimensional ultrasound in normal fetuses and CHD fetused, and analyze the difference between normal and CHD fetuses. Methods The fetuses without significant congenital heart disease were collected as the normal group.The CHD group included the fetuses who was diagnosed as congenital heart disease by fetal echocardiography and then comfirmed by autopsy after pregancy or the echocardiography in the neonatal period. The GE Voluson E8 Expert Doppler ultrasonic diagnostic apparatus was used. Fetal development and the fetal cardiac were conventionally examed by using the convex array probe(frequency of 3.0-6.0 MHz). The 3D images were obtained by using the RAB 4-8-D three-dimensional probe (frequency of 4.0-8.0 MHz), and then brain volume was calculated using VOCAL.And the differences of brain volume between normal fetuses and congenital heart disease (CHD) fetuses were compared. Results In normal fetuses, fetal brain volume increased with GA, BPD and HC, scattering as S curve for GA and BPD and a power function for HC. There was no significant difference in BPD or HC between the normal and CHD groups(P>0.05), while at the same time, the brain volume of CHD group was smaller than normal group (P<0.05). In all the fetuses with GA below 30 weeks, there was no significant difference in BPD, HC or the brain volume between the normal and CHD groups (P>0.05). While in fetuses with GA over 30 weeks, all these three measured values were significantly lower in CHD fetuses compared with normal ones. Conclusion The fetal brain volume measurements using three-dimensional ultrasound were operable and repeatable. In normal fetuses, fetal brain volume increased with the increase of GA, BPD and HC. The brain volume of CHD fetus was smaller than that of normal fetus, the difference was statistically significant.
Objective Using a self-designed MLPA probes set to detect chromosomal imbalances in patients with common multiple congenital anomalies(MCA) and to evaluate the value of the method in routine clinical examination. Methods Children with two or more abnormal phenotypes were taken as cases. The method of array comparative genomic hybridization (aCGH) was applied as the gold standard. The diagnostic accuracy of the self-designed MLPA probes was detected for 13 common MCA. After identification of the diagnostic accuracy of the MLPA probes set, patients with multiple genetic malformations were performed MLPA test, and the clinical data were collected for further analysis of the relationship between the clinical phenotype and the test results. Results ①13 common MCA included: 21-trisomy syndrome (KCNJ6, DYRK1A, RCAN1 gene), 18-trisomy syndrome (MC2R, DTNA, TCF4 gene), 13-trisomy syndrome (EDNRB, CENPJ, ERCC5, FREM2 gene), 1p36 region (1p-deletion syndrome, GABRD, SKI, TP73 gene), 5q35.3 region (Sotos syndrome, NSD1 gene), CHARGE syndrome (CHD7 gene), 7q11.23 region(Williams Beuren syndrome, CLIP2,ELN,LIMK1 gene), 22q11.21 region(DiGeorge syndrome,SNAP29,TBX1, ZNF74 gene ), 17p11 region (Smith-Magenis syndrome, RAI1, MFAP4 gene), 5p15.2 region (Cri Du Chat syndrome, CTNND2, TERT gene), 15q11-13 region (Prader-Willi syndrome, OCA2, UBE3A, GABRB3 gene), 4p16.3 region (Wolf-Hirschhorn syndrome, MSX1, WHSC1, LETM1 gene), 17q21.31 deletion syndrome (MAP3K14, MAPT gene). ②35 cases were performed aCGH and MLPA tests, 11 cases (31.4%) were detected abnormalities with the aCGH test, including 9 kinds of MCA; 6 cases (17.1%) with positive results of the MLPA test, including 4 kinds of MCA. Compared with the results of aCGH, the positive rate of the MLPA probe set was 100%, 6 cases with positive results of the MLPA test were all included in the self-designed probes. 21 positive cases (17.2%) were detected in 122 MCA cases, including 8 cases with 21-trisomy syndrome, 1 case with 18-trisomy syndrome,1 case with 5p15 microdeletion,8 cases with 22q11 deletion,2 cases with 15q11-q13 deletion, 1 cases with 7q11.23 microdeletion. Conclusion The self-designed MLPA probe set has a good diagnostic value for atypical clinical manifestations of MCA.
Objective To evaluate the efficacy and complications between bilevel positive airway pressure (BiPAP) and nasal continuous positive airway pressure (NCPAP) in the treatment of neonatal respiratory distress syndrome (NRDS). Methods Randomized controlled trials (RCTs) regarding comparison of efficacy and complications between BiPAP and NCPAP in NRDS were retrieved in PubMed, Sciverse, Cochrone Library, CNKI, CBM, VIP and Wanfang database. According to the inclu-sion and exclusion criteria, two reviewers independently screened the trials, extracted the data, assessed the quality, conducted the meta-analysis with RevMan 5.2 to evaluate the rate of failure, pressure of PaO2 or PaCO2 and the complications. Results A total of 9 RCTs were eligible for the study including 571 cases, 289 cases in BiPAP group and 282 cases in NCPAP group. Compared with NCPAP group, BiPAP group had a higher successful rate (OR=0.42, 95%CI: 0.20 to 0.89), however the successful rate did not differ siginificantly in one study, which included very low birth weight infants （OR=1.49,95%CI:0.51 to 4.33）. After 12 hours treatment, BiPAP group could significantly increase PaO2 (MD=6.88 mmHg, 95%CI: 4.38 to 9.38) and decrease PaCO2 (MD=-5.00 mmHg，95%CI：-5.75 to -4.25), and could significantly increase PaO2 (MD=6.36 mmHg, 95%CI: 4.80 to 7.92) and decrease PaCO2 (MD=-5.39 mmHg，95%CI：-6.18 to -4.61) after 24 hours with treatment. However, there was no statistical difference in death rate between NCPAP and BiPAP groups (OR=0.76，95%CI:0.34 to 1.69). The results showed that no difference existed in complications such as BPD, NEC, pneumothorax, horax, IVH, ROP between BiPAP and NCPAP groups. Conclusion The results indicated that BiPAP had inferior efficacy in NRDS, but no much difference in complications between BiPAP and NCPAP. The more evidence of efficacy of BiPAP is needed in very low birth weight infants.
Objective To describe the prevalence of overweight and obesity among children and adolescents aged 7-18 years in Beijing in 2011 and compare the differences in the prevalence based on different BMI cutoffs. Methods A total of 92 212 children and adolescents aged 7-18 years in Beijing in 2011 were included in this study. Overweight and obesity were defined as the cutoffs of BMI of two Chinese norms (CN2010 and WGOC) and two international criteria (IOTF and WHO2007). The differences of the prevalence of overweight and obesity based on different standards were compared using McNemar test. Results ①The growth level of BMI in P50, P85 and P95 in Beijing children and adolescents was higher than that of national BMI reference, no crosses occurred in the corresponding percentiles between both sexes and the level of BMI was always higher in boys than girls.②Based on the CN2010 and WGOC, the prevalence of obesity was 17.8% and 18.2% for boys and 10.8% and 10.9% for girls, respectively. Based on the IOTF and WHO2007, the prevalence of obesity was 12.9% and 21.0% for boys and 6.0% and 8.6% for girls, respectively. ③Using the CN2010 and WGOC, the prevalence of overweight (including obesity) were both 36.0% for boys, but the prevalence based the CN2010 (28.3%) was higher than 24.1% based on the WGOC for girls. In contrast, the prevalence of overweight (including obesity) for boys based on these Chinese norms was higher than that based on the IOTF but lower than based on the WHO2007; the prevalence for girls was higher than that based on the IOTF but close to that based on the WHO2007. ④Compared with the prevalence in 2004 based on WGOC, the prevalence of overweight and obesity among children aged 7-18 years in 2011 increased sharply, with 5.8% and 3.8% of increased rates of prevalence of obesity for boys and girls and 9.3% and 7.6% of increased rates of prevalence of overweight (including obesity). Conclusion About one third of children and adolescents aged 7-18 years were at overweight or obesity in Beijing in 2011. Significant differences in prevalence were observed between Chinese BMI norms and international criteria, Chinese BMI cutoffs were recommended to truly describe epidemiological status of overweight and obesity among children and adolescents in Beijing. Further, the ideal Chinese norm should achieve the unity of the screening criteria at age of 2 to 18 years and the consistency with adult standards at age of 18 years.
Objective To compare the differences in lung function between small for gestational age infants(SGA) and appropriate for gestational age infants (AGA). Methods From July 2010 to July 2013, hospitalized SGA infants in Shenzhen Children's Hospital Neonatal Intensive Care Unit(NICU) were grouped as SGA group,with gestational age <36 weeks. SGA group had no disorders with significant effect on lung function. AGA group was matched with the gestational age, birth weight in aspects of SGA group. Tidal breathing function was tested and functional residual capacity(FRC) was measured by multiple breath washout measurements in both groups at 12 corrected gestational months. Differences in lung function parameters were compared and the factors affecting small airway function of SGA group were analyzed. Results The study included 20 cases in SGA group(12 males, 8 females), 30 cases in AGA group (17 males, 13 females). There were no significant differences in birth weight, birth length, the number of days of mechanical ventilation between two groups(P>0.05); In SGA group gestational age and the number of days with oxygen-dependent were higher than those in AGA group. In SGA group, weight and height during pulmonary function testing were lower than AGA group (P<0.05). ①Respiratory rate (RR),tidal volume (VT), tidal volume per kilogram(VT/kg),minute ventilation (MV) and FRC were not significantly different between two groups at 12 corrected gestational months(P>0.05). Time to peak expiratory flow (TPEF),volume to peak expiratory flow (VPEF),the ratios of time to peak expiratory flow and expiratory time(TPEF/TE),the ratios of volume to peak expiratory flow and expiratory volume (VPEF/VE) ,tidal expiratory flow 75% remaining tidal volume (TEF75), tidal expiratory flow 50% remaining tidal volume (TEF50) and tidal expiratory flow 25% remaining tidal volume (TEF25) were lower in SGA group than those in the AGA group (P<0.05). ②In two groups, the ratio of lower respiratory tract infection ≥ 3 times during the time from discharged to pulmonary function testing was 90%(18/20) for SGA group versus 50(15/30) for AGA group with significant difference. ③ Multiple linear regression showed a positive correlation between TEF25 and height, weight in SGA group when pulmonary function were tested, and there was a negatively correlation between the oxygen-dependent days and TEF25. Conclusion In infancy, the lung volume parameters of SGA were close to those of AGA who had the same weight.However, the airway resistance of SGA was higher than those of AGA, the increases of airway resistance of SGA was related with developmental retardation after boring
Objective To present the clinical characteristics, diagnosis and treatment of children with aspiration pneumonia. Methods Clinical manifestations, radiological findings, treatment and prognosis of pediatric petients with aspiration pneumonia who had been hospitalized in Beijing Children′s Hospital from 2012 to 2013 were retrospectively analyzed. Results Twenty patients with aspiration pneumonia were enrolled into the study, including 14 boys and 6 girls, aged from 2 months to 13-year-3-months（17 cases from 2 months to 3-year-3-months and 3 cases from 10-year-1-month to 13-year-3-months）. Maldevelopment in brain，convulsion，long-term keeping the bed because of fracture of lumbar vertebrae，muscular dystrophy or carntine deficiency were found in 7 cases.Mild cough was found in every patient, dyspnea in 12 cases，fever in 12 cases and digestive tract symptom in 15 cases. Ematiation or malnutrition was found in 10 cases. White blood cell (WBC) count and CRP were elevated mildly in four children. Respiratory secretion culture in 4 cases was positive with klebsiella pneumoniae，1 case with Escherichia coli and 1 case with Candida albicans.Lung CT revealed bilateral and posterior segment lesions in 12 cases，interstitial disease in 8 cases（ground glass shadows in 3 cases），consolidation in 12 cases. 24-hour pH monitoring of esophagus was positive with GER in 9 of 10 cases. Digestive tract ultrasound revealed superior mesenteric artery compression syndrome in 2 cases，GER in 2 cases，stomach volvulus and hiatal hernia in 3 cases. Opacification of digestive tract revealed superior mesenteric artery compression syndrome， GER and horizontal stomach in 1 case respectively，contrast media enter trachea through oropharynx in 3 cases and gastric volvulus in 2 cases respectively. Nineteen patients were treated with antibiotics and 4 patients were treated with hormone.All of the patients with GER received anti-reflux agents. The prognosis of GER was relatively good（especially acute aspiration pneumonia）,but was bad in the patients who had disease more than 1 month and lung CT showing organization and in the patients who had nervous system diseases. Conclusion The incidence of aspiration pneumonia in infants was higher and many patients had nervous system disease or abnormalities in digestive tract. Most of patients had digestive tract symptom，mild cough and dyspnea. The prognosis of GER was relatively good，but was bad in the long course diseases and in the patients who had nervous system diseases.
The SHANK3 protein provides scaffolding for signaling molecules in the postsynaptic density (a multiprotein complex attached to the postsynaptic membrane) of glutamatergic synapses. It also plays a role in synapse formation and dendritic spine maturation, which is necessary to the formation of functional synapses. Recently, the study of SHANK3 develops rapidly. Notably, the changes of SHANK3 gene sequences, including deletions, duplications and mutations, contribute significantly to autism spectrum disorder (ASD). In addition, SHANK3 methylation is another important mechanism of ASD. In this review, we focus on the relationship between SHANK3 and ASD, so as to provide useful information to further investigate the role of the SHANK 3 in other neuropsychiatric disorders.
