Background: Despite the current obesity pandemic, childhood malnutrition remains an urgent, public health concern. Similar to the obesity pandemic, childhood malnutrition is influenced by genetic and a number of social, environmental and biological factors. In this study, we investigated the association between sleep duration and somatic growth in lean children.Methods: A stratified, randomly clustered sampling design was used to select fifth grade students from 10 primary schools in Shanghai. Based on a body mass index below the 15th percentile a subsample of 143 lean children aged 10-11 years old was defi ned. Sleep duration and other potential confounders were surveyed through parental or self-report questionnaires. Body measurements were collected and used to calculate the Z score of weight, height, body mass index as well as body fat percentage.Results: Compared with children who slept <9 hours, those who slept for ≥10 hours grew taller and gained more weight after adjusting for confounding factors. When children slept 9-10 hours, they had signifi cantly higher Z score of weight and body mass index.Conclusions: Prolonged sleep not only benefi ts weight gain but also improves height in lean children. Our findings might provide important public health advice such that prolonged sleep may be an effective modifi er of nutritional problems in childhood.
作者： 刊期： 2014年第03期
Background: Clinical trials have revealed that the antivascular endothelial growth factor (VEGF) therapies are effective in retinopathy of prematurity (ROP). But the low level of VEGF was necessary as a survival signal in healthy conditions, and endogenous placental growth factor (PIGF) is redundant for development. The purpose of this study was to elucidate the PIGF expression under hypoxia as well as the infl uence of anti-VEGF therapy on PIGF.Methods: CoCl2-induced hypoxic human umbilical vein endothelial cells (HUVECs) were used for an in vitro study, and oxygen-induced retinopathy (OIR) mice models were used for an in vivo study. The expression patterns of PIGF under hypoxic conditions and the infl uence of anti- VEGF therapy on PIGF were evaluated by quantitative reverse transcription-polymerase chain reaction (RTPCR). The retinal avascular areas and neovascularization (NV) areas of anti-VEGF, anti-PIGF and combination treatments were calculated. Retina PIGF concentration was evaluated by ELISA after treatment. The vasoactive effects of exogenous PIGF on HUVECs were investigated by proliferation and migration studies.Results: PIGF mRNA expression was reduced by hypoxia in OIR mice, in HUVECs under hypoxia and anti-VEGF treatment. However, PIGF expression was reversed by anti-VEGF therapy in the OIR model and in HUVECs under hypoxia. Exogenous PIGF significantly inhibited HUVECs proliferation and migration under normal conditions, but it stimulated cell proliferation and migration under hypoxia. Anti-PIGF treatment was effective for neovascular tufts in OIR mice (P<0.05).Conclusion: The finding that PIGF expression is iatrogenically up-regulated by anti-VEGF therapy provides a consideration to combine it with anti-PIGF therapy.
作者： 刊期： 2014年第03期
Background: This study aimed to investigate the mutation spectrum of the QDPR gene, to determine the effect of mutations on dihydropteridine reductase (DHPR) structure/function, to discuss the potential genotypephenotype correlation, and to evaluate the clinical outcome of Chinese patients after treatment.Methods: Nine DHPR-deficient patients were enrolled in this study and seven of them underwent neonatal screening. QDPR gene mutations were analyzed and confi rmed by routine methods. The potential pathogenicity of missense variants was analyzed using Clustal X, PolyPhen program and Swiss-PDB Viewer 4.04_OSX software, respectively. The clinical outcomes of the patients were evaluated after long-term treatment.Results: In 10 mutations of the 9 patients, 4 were novel mutations (G20V, V86D, G130S and A175R), 4 were reported by us previously, and 2 known mutations were identified. R221X was a hotspot mutation (27.7%) in our patients. Eight missense mutations probably had damage to protein. Six patients in this series were treated with a good control of phenylalanine level. The height and weight of the patients were normal at the age of 4 months to 7.5 years. Four patients, who underwent a neonatal screening and were treated early, showed a normal mental development. In 2 patients diagnosed late, neurological symptoms were signifi cantly improved.Conclusions: The mutation spectrum of the QDPR gene is different in the Chinese population. Most mutations are related to severe phenotype. The determination of DHPR activity should be performed in patients with hyperphenylalaninemia. DHPR-defi cient patients who were treated below the age of 2 months may have a near normal mental development.
作者： 刊期： 2014年第03期
Background: Infants born outside perinatal centers may have compromised outcomes due to the transfer speed and effi ciency to an appropriate tertiary center. This study aimed to evaluate the impact of regional coordinated changes in perinatal supports and retrieval services on the outcome of transported neonates in Beijing, China.Methods: Information about transported newborns between phase 1 (July 1, 2004 to June 30, 2006) and phase 2 (July 1, 2007 to June 30, 2009) was collected. The strategic changes during phase 2 included standardized neonatal transport procedures, skilled attendants, a perinatal consulting service, and preferential admission of transported neonates to the intensive care unit of the tertiary care center. Data from phase 2 (after- strategic changes) were compared with those of phase 1 (the period of pre-strategic changes) after a 12-month washout period, especially regarding the reduction in mortality and selected morbidity.Results: There was a large increase in the number of transported infants in phase 2 compared with phase 1 (2797 vs. 567 patients). The average monthly rate of increase of transported infants was 383.3% (from 24 infants per month to 116 infants per month). The mortality rate of transported neonates reduced significantly from phase 1 to phase 2 (5.11% vs. 2.82%; P=0.005), particularly for preterm infants (8.47% vs. 4.34%; P=0.006). In addition, transported neonates during phase 2 had signifi cantly decreased morbidities.Conclusions: Regional coordinated strategies optimizing the perinatal services and transport of outborn sick and preterm infants to tertiary care centers improved survival outcomes considerably. These findings have vital implications for health outcomes and resource planning.
作者： 刊期： 2014年第03期
Background: To compare neonatal mortality and neurodevelopmental outcomes at two years of age in very low birth weight infants (≤1500 g) born by cesarean with those by vaginal delivery.Methods: In this retrospective, case-control study, we evaluated neonatal mortality, medical conditions and neurodevelopmental outcomes at two years of corrected age in 710 very low birth weight (VLBW) infants born between January 2005 and December 2010. Of the 710 infants, 351 were born by the cesarean and 359/710 by vaginal route.Results: There were no significant differences in neonatal mortality between the cesarean delivery group and vaginal delivery group [56/351 (15.9%) vs. 71/359 (19.8%), P=0.20]. VLBW infants delivered by the cesarean procedure had a higher incidence of respiratory distress syndrome than those born by the vaginal route [221/351 (63.0%) vs. 178/359 (49.6%), P<0.001]. There were no differences in other neonatal morbidities, including intraventricular hemorrhage [126/351 (35.9%) vs. 134/359 (37.3%), P=0.69], bronchopulmonary dysplasia [39/351 (11%) vs. 31/359 (8.6%), P=0.38] and necrotising enterocolitis [40/351 (11.4%) vs. 32/359 (8.9%), P=0.32] between the two groups. The incidence of poor neurodevelopment after cesarean delivery was similar to that after vaginal delivery [105/351 (29.9) vs. 104/359 (29.0%), P=0.78].Conclusions: In neither neurodevelopment nor neonatal mortality did cesarean birth offered significant advantages to VLBW infants. Moreover, the operation might be associated with an increased risk of respiratory distress syndrome for VLBW infants. The mode of delivery of VLBW infants should be largely based on obstetric indications and maternal considerations rather than perceived better outcomes for the neonate.
作者： 刊期： 2014年第03期
Background: Declines in the onset age of secondary sexual development have been reported in a number of recent studies in western and Asian countries. A study of Hat-Yai school girls in 1994 in Thailand showed that the ages at thelarche and menarche were 9.9 and 12.4 years, respectively. This study was to determine whether there was a decline in the average age of puberty in Hat-Yai school girls from 1994 to 2012.Methods: A cross-sectional study was conducted in 2140 healthy Hat-Yai school girls, aged 6-18 years, from June 2011 to March 2012. Breast and pubic hair development was assessed by the Tanner staging method. Probit analysis was used to calculate the median ages of different stages of breast and pubic hair development, and the age of menarche.Results: The median ages of girls having thelarche and menarche were 9.6 (95% CI, 9.4-9.8) and 12.2 (95% CI, 11.9-12.4) years, which declined from 9.9 (95% CI, 9.7-10.1) and 12.4 years (95% CI, 12.2-12.6) in the 1994 study respectively, however, without statistical significance. The youngest ages of girls who had breast stage 2 and menarche were 7.2 and 9.2 years, respectively. The fi nal height at age 14 years in this cohort (157.3 cm) was 2.3 cm greater than that of girls in 1994 (155.0 cm).Conclusions: From 1994 to 2012, the age at onset of thelarche and menarche of girls in Hat-Yai municipality declined by 0.2 and 0.3 years, respectively. The earlier age at onset of puberty had no effect on fi nal adult height.
作者： 刊期： 2014年第03期
Background: Children are in a continuous and dynamically changing state of growth and development. A thorough understanding of developmental pharmacokinetics (PK) and pharmacodynamics (PD) is required to optimize drug therapy in children.Data sources: Based on recent publications and the experience of our group, we present an outline on integrating pharmacometrics in pediatric clinical practice to develop evidence-based personalized pharmacotherapy.Results: Antibiotics in septic neonates and immunosuppressants in pediatric transplant recipients are provided as proof-of-concept to demonstrate the utility of pharmacometrics in clinical practice. Dosage individualization based on developmental PK-PD model has potential benefits of improving the efficacy and safety of drug therapy in children.Conclusion: The pharmacometric technique should be better developed and used in clinical practice to personalize drug therapy in children in order to decrease variability of drug exposure and associated risks of overdose or underdose.
作者： 刊期： 2014年第03期
Background: Surfactant replacement therapy has been used for few decades for the treatment of respiratory distress syndrome (RDS) and has significantly improved morbidity and mortality in premature infants. Non-invasive respiratory support has recently emerged as a strategy in the early management of RDS. In this review, we discuss the different strategies of early management of RDS.Data sources: A literature search of PubMed database was conducted to review the subject. The quality of evidence of key clinical studies was graded according to a modified grading system of the international GRADE group.Results: Continuous positive airway pressure (CPAP) with selective surfactant is a safe alternative to routine intubation, surfactant and mechanical ventilation in preterm infants with spontaneous breathing, and such an approach has been associated with decreased risk of death and bronchopulmonary dysplasia. There is a risk of pneumothorax when using a high pressure of CPAP (≥8 cm of H2O), a high partial pressure of carbon dioxide (PCO2 >75 mm of Hg), and a high fraction of inspired oxygen (FiO2 >0.6) as a threshold for intubation while on CPAP.Conclusion: Not all preterm infants need surfactant treatment, and non-invasive respiratory support is a safe and effective approach.
作者： 刊期： 2014年第03期
Background: Hyperbilirubinemia occurs in most healthy term and late-preterm infants, and must be monitored to identify those who might develop severe hyperbilirubinemia. Total serum bilirubin (TSB) or transcutaneous bilirubin (TcB) nomograms have been developed and validated to identify neonatal hyperbilirubinemia. This study aimed to review previously published studies and compare the TcB nomograms with the TSB nomogram, and to determine if the former has the same predictive value for signifi cant hyperbilirubinemia as TSB nomogram does.Methods: A predefined search strategy and inclusion criteria were set up. We selected studies assessing the predictive ability of TSB/TcB nomograms to identify significant hyperbilirubinemia in healthy term and latepreterm infants. Two independent reviewers assessed the quality and extracted the data from the included studies. Meta-Disc 1.4 analysis software was used to calculate the pooled sensitivity, specificity, and positive likelihood ratio of TcB/TSB nomograms. A pooled summary of the receiver operating characteristic of the TcB/TSB nomograms was created.Results: After screening 187 publications from electronic database searches and reference lists of eligible articles, we included 14 studies in the systematic review and meta-analysis. Eleven studies were of medium methodological quality. The remaining three studies were of low methodological quality. Seven studies evaluated the TcB nomograms, and seven studies assessed TSB nomograms. There were no differences between the predictive abilities of the TSB and TcB nomograms (the pooled area under curve was 0.819 vs. 0.817).Conclusions: This study showed that TcB nomograms had the same predictive value as TSB nomograms, both of which could be used to identify subsequent signifi cant hyperbilirubinemia. But this result should be interpreted cautiously because some methodological limitations of these included studies were identifi ed in this review.
作者： 刊期： 2014年第03期
Background: There are some risk factors being more vulnerable to Lemierre's syndrome such as a hypercoagulable state.Methods: We report a rare case of Lemierre's syndrome with ethmoid and maxillary sinusitis, bilateral mastoiditis, and sigmoid sinus thrombosis.Results: Genetic study revealed a double heterozygote status in the methylenetetrahydrofolate reductase gene including C677T and A1298C.Conclusion: It is suggested to screen patients with Lemierre's syndrome for a hypercoagulable state to consider anticoagulant therapy.
作者： 刊期： 2014年第03期
Background: Dent's disease is a rare X-linked recessive hereditary disease caused by mutations in either the CLCN5 or OCRL1 genes. This disease is characterized by manifestations of proximal renal tubule dysfunction associated with low molecular weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure.Methods: We report a Chinese boy with Dent's disease, clinically diagnosed by LMWP and hypercalciuria. Genetic analysis was made of the CLCN5 and OCRL1 genes. Related studies were also reviewed.Results: A splice site mutation IVS6, +2T>C of the CLCN5 gene was revealed in this case, and it was not reported previously.Conclusions: Clinical and genetic analysis is valuable for the diagnosis of Dent's disease. A novel mutation in the CLCN5 gene was identifi ed in our patient.
作者： 刊期： 2014年第03期
Background: The hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant disorder primarily caused by GATA3 gene mutation. We report here a case that both of a Chinese boy and his father had HDR syndrome which caused by a novel mutation of GATA3.Methods: Polymerase chain reaction and DNA sequencing was performed to detect the exons of the GATA3 gene for mutation analysis.Results: Sequence analysis of GATA3 revealed a heterozygous nonsense mutation in this family: a mutation of GATA3 at exon 2 (c.515C >A) that resulted in a premature stop at codon 172 (p.S172X) with a loss of two zinc fi nger domains.Conclusion: We identifi ed a novel nonsense mutation which will expand the spectrum of HDR-associated GATA3 mutations.
作者： 刊期： 2014年第03期
Background: There are few studies on the genotypes and phenotypes of autosomal recessive polycystic kidney disease in Chinese patients.Methods: PKHD1 mutations in three children were detected with PCR and direct sequencing, and their clinical data were retrospectively reviewed.Results: All of the children had bilateral enlarged polycystic kidneys, congenital hepatic fibrosis and intrahepatic bile duct dilatation. One of three children had classical multiple small cysts throughout the kidneys, and the other two children had bilateral multiple renal cysts of various sizes. Two children had abnormally shaped livers, portal hypertension and splenomegaly. Two heterozygous mutations (p.T36M, and p.P137S) were detected in Patient 1 and two were detected in Patient 2 (p.L2658X and p.V836A). One heterozygous mutation (p.L1425R) was detected in Patient 3.Conclusions: The study shows that renal and liver phenotypes of the Chinese children varied. Five mutations were identifi ed in the three children, three of which were novel mutations.
作者： 刊期： 2014年第03期
