坐高、下肢长和坐高/身高比值的全国不同年龄参考值及其对于不对称性发育异常的诊断价值

To obtain age references for sitting height (SH), leg length (LL), and SH/H ratio in the Netherlands; to evaluate how SH standard deviation score (SDS), LL SDS, SH/H SDS, and SH/LL SDS are related to height SDS; and to study the usefulness of height corrected SH/H cut-off lines to detect Marfan syndrome and hypochondroplasia. Methods: Crosssectional data on height and sitting height were collected from 14 500 children of Dutch origin in the age range 0- 21 years. Reference SD charts were constructed by the LMS method. Correlations were analysed in three age groups. SH/H data from patients with Marfan syndrome and genetically confirmed hypochondroplasia were compared with height corrected SH/H references. Results: A positive association was observed between H SDS, SH SDS, and LL SDS in all age groups. There was a negative correlation between SH/H SDS and height SDS. In short children with a height SDS <- 2 SDS, a cut-off limit of + 2.5 SD leads to a more acceptable percentage of false positive results. In exceptionally tall children, a cut-off limit of - 2.2SDS can be used. Alternatively, a nomogram of SH/H SDS versus H SDS can be helpful. The sensitivity of the height corrected cut-off lines for hypochondroplasia was 80% and for Marfan syndrome only 30% . Conclusions: In exceptionally short or tall children, the dependency of the SH/H ratio (SDS) on height SDS has to be taken into consideration in the evaluation of body proportions. The sensitivity of the cut-off lines for hypochondroplasia is fair.

Comparative Pertussis Antibody Response of Nigerian Children to Diphtheria, Pertussis, Tetanus (DPT) and Pentavalent Vaccines

Background: In Nigeria Pentavalent vaccine had replaced Diphtheria-Pertussis- Tetanus [DPT] vaccine in the prevention of pertussis since 2012. Aims and Objectives: The aim of this study was to compare the anti-pertussis immunoglobin G (IgG) response of children who received DPT with those who received the pentavalent vaccine. Subjects and Methods: This study was carried out in Akpabuyo LGA of Cross River State from April to June 2016. It was a cross-sectional survey of anti-pertussis IgG levels in children aged 6 months to 5 years who received DPT and those who received pentavalent vaccine. IgG antibody levels were determined using enzyme-linked immunosorbent assay. The protective level was set at >11 DU according to manufacturer’s cut off point. Results: Seventy eight out of 230 children [33.9%] who had received DPT had protective levels of anti-pertussis IgG compared to 74 out of 192 children [38.5%] who had received pentavalent vaccine. The difference was not statistically significant [p = 0.61]. The median IgG antibody level in those who received DPT was 8.0 DU (interquartile range (IQR) 4.0 - 13.0) compared with 9.0 DU (IQR) 4.0 - 15.0 in those who received pentavalent vaccine [p = 0.18]. No single factor investigated predicted the development of protective levels of antibody in the multivariate analysis. Conclusion/Recommendation: There was no difference in the antipertussis antibody response between DPT and pentavalent vaccines recipients. Further study is needed to elucidate factors that could be responsible for low anti-pertussis antibody response in this population.

抑酸剂不能改善同患哮喘和胃食管反流儿童的呼吸道症状

Background: Epidemiological studies have shown an association between gastro-oesophageal reflux disease (GORD) and asthma, and oesophageal acid perfusion may cause bronchial constriction. However, no causative relation has been proven. A im: To assess whether acid suppression would lead to reduced asthma symptoms in children with concomitant asthma and GORD. Methods: Thirty eight children (mean age 10.8 years, range 7.2-16.8; 29 males) with asthma and a reflux index ≥5.0 assessed by 24 hour oesophageal pH monitoring were randomised to 12 weeks of tre atment with omeprazole 20 mg daily or placebo. The groups were similar in age, g ender, mean reflux index, and asthma severity. Primary endpoints were asthma sym ptoms (daytime wheeze, symptoms at night, in the morning, and during exercise) a nd quality of life (PAQLQ). Secondary endpoints were changes in lung function an d the use of short acting bronchodilators. At the end of the study a repeated pH study was performed to confirm the efficacy of acid suppression. Results: The c hange in total symptom score did not differ significantly between the omeprazole and the placebo group, and decreased by 1.28 (95%CI -0.1 to 2.65) and 1.28 (9 5%CI -0.72 to 3.27) respectively. The PAQLQ score increased by 0.62 (95%CI 0. 29 to 0.95) in the omeprazole group compared to 0.50 (95%CI 0.29 to 0.70) in th e placebo group. Change in lung function and use of short acting bronchodilators were similar in the groups. The acid suppression was adequate (reflux index < 5 .0) under omeprazole treatment. Conclusion: Omeprazole treatment did not improve asthma symptoms or lung function in children with asthma and GORD.

关于瑞典低出生体重儿的支气管肺发育不良的人群普查研究

In Switzerland, data are collected prospectively by collaborators from all nine neonatal intensive care units and their affiliated paediatric units caring for neonates, to determine su rvival and (pulmonary) outcome of infants with birth weights ranging from 501 to 1500 g. To assess the pulmonary outcome of very low birth weight (VLBW) infants in Switzerland in 1996 and 2000, factors associated with bronchopulmonary dyspl asia (BPD) were identified and compared with pulmonary outcomes from the Vermont Oxford Network data. BPD was defined as a requirement for supplemental oxygen a t 36 weeks postmenstrual age. Complete data were available for 600 and 636 VLBW infants in 1996 and in 2000, respectively. Mortality rates in Switzerland were s ignificantly higher (1996: 19.2%, 2000: 20.8%) than in the Vermont Oxford Netw ork (1996: 14%, 2000: 14%). Expressed as percentage of infants still hospitali sed at 36 weeks postmenstrual age, 16.7%and 13.2%of Swiss VLBW infants were di agnosed with BPD in 1996 and 2000, respectively. These rates were significantly lower than in the Vermont Oxford Network (1996: 28%, 2000: 35%). Infants expos ed to factors previously shown to be associated with BPD were investigated: in S witzerland, infants with a history of surfactant replacement therapy and/or mech anical ventilation had a significantly higher rate of BPD in both cohorts. Infan ts with postnatal transport, sepsis proven by positive blood culture and patent ductus arteriosus had a higher BPD rate only in the 1996 cohort. Between 1996 an d 2000, mortality rates and incidence of BPD in VLBW infants remained unchanged in Switzerland. BPD rates in Switzerland are lower than those found in the Vermo nt Oxford Network whereas a mortality rate comparison displays an inverted pictu re. We suspect that these effects are interrelated and may be due in part to a s elective approach of Swiss neonatologists to resuscitation of infants in the sma llest birthweight stratum. Conclusion:The factors listed above have apparently b ecome less important in the context of bronchopulmonary dysplasia and other infl uences, including prenatal conditions, will need to be investigated.

新生儿暂时性呼吸急促与上皮细胞钠离子通道编码基因多态性之间是否存在相关性:对α亚单位二次跨膜结构域的研究

Aim: We hypothesized that polymorphisms in the region encoding for the second transmembrane spanning domain of the epithelial sodium channel may be one factor in the pathogenesis of transient tachypnoea of the newborn. We thus searched for polymorphisms in this region in neonates with transient tachypnoea of the newborn. We also investigated samples from preterm neonates with respiratory distress syndrome, as dysfunction of the epithelial sodium channel might also increase the risk for developing respiratory distress syndrome and in fluence its course. Methods: We used denaturing gradient gel electrophoresis to detect sequence variants in exon 12 and 13 of the epithelial sodium channel. Forty-three neonates with transient tachypnoea of the newborn (gestational age mean± SD : 38.3± 1.2 completed weeks; birthweight: 3088± 426 g), 57 neonates with RDS (gestational age: 29.6 ± 3.5 completed weeks; birthweight: 1272 ± 638 g), and 50 healthy controls were enrolled prospectively. Results: We did not detect any polymorphism. Neither did confirmative sequencing of this region in 16 neonates with transient tachypnoea of the newborn reveal any polymorphism. Conclusion: We conclude that reasons other than polymorphisms in the second transmembrane spanning domain cause transient tachypnoea of the newborn.

Apert’s syndrome:Study by whole exome sequencing

In the present study we attempted a parente-child trio,whole exome sequencing(WES)approach to study Apert’s syndrome.Clinical characteristics of the child were noted down and WES was carried out using Ion Torrent System that revealed the presence of previously reported P253R mutation in FGFR2 gene.Presence of two SNPs rs1047057 and rs554851880 in FGFR2 gene with an allelic frequency of 0.5113 and 0.001176 respectively and 161 complete damaging mutations were found.This study is the first reported case of exome sequencing approach on an Apert’s syndrome patient aimed at providing better genetic counselling in a non-consanguineous relationship.