自引率: 5.9%
被引量: 7810
通过率: 暂无数据
审稿周期: 1
版面费用: 暂无数据
国人发稿量: 16
投稿须知/期刊简介:
Official Organ of the Belgian Pediatric Association Incorporating Acta Paediatrica Belgica Helvetica Paediatrica Acta Acta Paediatrica Hungarica
期刊描述简介:
The European Journal of Pediatrics (EJPE) is a leading peer-reviewed medical journal which covers the entire field of pediatrics. The editors encourage authors to submit original articles, reviews, short communications, and correspondence on all relevant themes and topics. EJPE is particularly committed to the publication of articles on important new clinical research that will have an immediate impact on clinical pediatric practice. The editorial office very much welcomes ideas for publications, whether individual articles or article series, that fit this goal and is always willing to address inquiries from authors regarding potential submissions. Invited review articles on clinical pediatrics that provide comprehensive coverage of a subject of importance are also regularly commissioned.
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Zero vegetable or fruit consumption and its associated factors among children aged 6 to 23 months in Kenya: a multilevel analysis of a large population-based survey.
Poor consumption of fruits and vegetables is associated with an increased risk of non-communicable diseases, micronutrient deficiency, and undernutrition. Fruit and vegetable consumption is generally low worldwide, particularly in rural regions of many low- and middle-income countries. This study aimed to determine the prevalence and determinants of zero vegetable or fruit consumption among children aged 6 to 23 months in Kenya using the most recent Kenya Demographic and Health Survey. A cross-sectional study was employed using data from the most recent nationally representative KDHS 2022. A weighted sample of 2,965 children aged between 6 to 23 months who were living with their mother was included in the study. Data extracted from the KDHS 2022 data sets were cleaned, recoded, and analyzed using STATA/SE version 14.0 statistical software. Multilevel logistic regression was used to determine the factors associated with the dependent variable. Finally, variables with a p-value less than 0.05 were declared statistically significant. The proportion of zero vegetable or fruit consumption among children aged 6 to 23 months in Kenya was 45.50% (95% CI: 43.71%-47.30%). Factors like maternal education [AOR = 0.59; 95% CI (0.37, 0.93)], maternal occupation [AOR = 0.60; 95% CI (0.47, 0.76)], media exposure [AOR = 0.59; 95% CI (0.43, 0.80)], wealth index [AOR = 0.68; 95% CI (0.49, 0.95)], place of delivery [AOR = 0.69; 95% CI (0.51, 0.94)], number of ANC visits [AOR = 1.30; 95% CI (1.05, 1.62)], child's age [AOR = 0.30; 95% CI (0.21, 0.41)], community media exposure [AOR = 0.30; 95% CI (0.21, 0.41)], community literacy [AOR = 0.29; 95% CI (0.20, 0.43)], and community poverty [AOR = 1.46; 95% CI (1.04, 2.05)] were significantly associated with zero vegetable or fruit consumption. The proportion of zero vegetable or fruit consumption among children aged 6 to 23 months in Kenya was high. Zero vegetable or fruit consumption was significantly associated with maternal education, maternal occupation, media exposure, wealth index, place of delivery, number of ANC visits, child's age, community media exposure, community literacy, and community poverty. Giving attention to jobless, media-non-exposed mothers, poor wealth status, who gave birth at home, who had no formal education, attended < 4 ANC visits, and children aged 6 to 8 months is recommended. • Dietary recommendations for fruit and vegetable consumption were not met by many children in low and middle-income countries. • The proportion of zero vegetable or fruit consumption among children aged 6 to 23 months in Kenya was high.
被引量：- 发表：1970
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Higher bone mineral density at six years of age in very preterm-born infants fed human milk compared to formula feeding. A secondary analysis of an RCT.
In very preterm-born infants, nutritional intake is important to reduce the risk of severe metabolic bone disease including the risk of a lower bone mineral density (BMD). The aim of this study was to evaluate bone mineral content (BMC) and BMD (measured as BMC per bone area (BA)) at six years of age in very preterm-born infants fed different diets post-discharge. Data on this topic so far is insufficient, and with this study we aim to supply more useful data. A prospective follow-up study of 281 children born very preterm (gestational age ≤ 32 + 0 weeks) and enrolled in a multicentre RCT on post-discharge nutrition. Infants fed human milk (HM) were randomised respectively to be fed unfortified HM (UHM) or fortified human milk (FHM) from hospital discharge to four months' corrected age. Those not fed HM received a preterm formula (PF). At six years of age, BMD and BMC in all the children were established by means of a dual-energy X-ray absorptiometry (DXA) scan (Lunar Prodigy) and adjusted for sex, age, and anthropometrics. A total of 192 very preterm-born children (59 fed UHM, 67 FHM and 66 PF) had a DXA scan performed at median 6 (5.8-8.3) years of age. No significant difference was found comparing UHM and FHM according to height, weight, BA, BMC, and BMD at six years of age. However, a multiple regression analysis showed significantly improved BMD in breastfed children compared to PF-fed children. Fortified compared to non-fortified human milk post-discharge did not have an impact on BMD at 6 years of age in very preterm-born infants. Breastfed children demonstrated higher BMD than formula-fed children. • Adequate nutritional intake is important to improve growth and to reduce the risk of severe bone disease in very preterm born infants. • Bone mineralization is attained later in preterm born infants compared to term born infants. • Feeding human milk with fortification compared to non-fortified human milk did not improve bone mineral density in children born very preterm in this follow-up study at six years of age. • Feeding human milk compared to formula was associated with increased BMD at six years of age among very preterm born infants.
被引量：- 发表：1970
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Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.
The RASopathies are a group of disorders resulting from a germline variant in the genes encoding the Ras/mitogen-activated protein kinase pathway. These disorders include Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome (LS), and neurofibromatosis type 1 (NF1), and have overlapping clinical features due to RAS/MAPK dysfunction. In this study, we aimed to describe the clinical and molecular features of patients exhibiting phenotypic manifestations consistent with RASopathies. The study included 149 patients from 146 unrelated families who were admitted between 2019 and 2023 with a clinical suspicion of RASopathy spectrum disorder. Clinical and laboratory characteristics of the patients at the time of the diagnosis were obtained from hospital records. Variant analysis of twenty-four RASopathy genes was performed using a targeted next-generation sequencing (NGS) panel, and the variants were classified according to American College of Medical Genetics and Genomics Standards and Guidelines recommendations. Pathogenic/likely pathogenic variants were detected in 39 out of 149 patients (26.1%). Thirty-two patients were diagnosed as NS (32/39; 82%). The variants detected in NS patients were PTPN11 (21/32; 65.6%), LZTR1 (3/32; 9.3%), SOS1 (2/32; 6.2%), RAF1 (2/32; 6.2%), RIT1 (2/32; 6.2%), KRAS (1/32; 3.1%), and RRAS (1/32; 3.1%) genes, respectively. The remaining patients were diagnosed with CS (2/39; 5.1%), NF1 (2/39; 5.1%), NF-NS (2/39; 5.1%), and CFC (1/39; 2.5%). We observed rare clinical findings including lymphangioma circumscriptum, Meckel's diverticulum, and omphalocele in three patients with PTPN11 gene variations. Additionally, we detected corpus callosum thickness in a patient with the SOS1 gene variant, which has not been previously described in NS. We also identified three novel variants in RIT1, BRAF, and NF1 genes. In this study, we described rare clinical manifestations and detected three novel variants in NF1, BRAF, and RIT1 genes. We propose that NGS technology enables the detection of variants in rare genes responsible for the etiology of RASopathies. The study, therefore, not only contributes to the existing literature but also expands the spectrum of genotype and phenotype of RASopathies. • RASopathies are a group of disorders caused by germline variants in genes involved in the Ras/mitogen-activated protein kinase (RAS/MAPK) pathway. • These disorders, including Noonan syndrome (NS), Cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome, and Neurofibromatosis type 1 (NF1), share overlapping clinical features due to RAS/MAPK dysfunction. Molecular diagnosis of RASopathies is crucial for understanding the genetic basis and guiding clinical management, although the phenotype-genotype relationships remain incompletely defined. • This study provides new insights into the molecular and clinical characteristics of RASopathies by examining 149 patients from 146 families, with a focus on the genetic variants found in 24 RASopathy-related genes. Three novel variants were identified in the RIT1, BRAF, and NF1 genes, expanding the genetic spectrum of RASopathies. • Additionally, rare clinical findings, such as lymphangioma circumscriptum and corpus callosum thickness, were reported in patients with PTPN11 and SOS1 gene variations, respectively. These observations contribute new phenotypic data to the existing body of knowledge.
被引量：- 发表：1970
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Application of the TIDieR checklist to improve the HFNC use in bronchiolitis management.
The use of High-Flow Nasal Cannula (HFNC) in children with bronchiolitis is globally increased in the last decade, despite the lack of evidence-based and universal guidelines to standardize their application in the clinical practice. In this systematic review, we aimed to analyse the completeness of previous studies on HFNC interventions in children with bronchiolitis using an adapted Template for Intervention Description and Replication (TIDieR) checklist. Randomized clinical trials (RCTs) and cohort studies on children younger than 2 years old with a diagnosis of bronchiolitis were included. We analysed manuscripts published between January 2010 and October 2023. An adapted TIDieR checklist based on 14 items about HFNC interventions was used to assess the completeness of the studies. A total sample of 67,324 patients was analysed in the 78 included manuscripts (21 RCTs and 57 cohort studies). Completeness of TIDieR checklist items ranged from 1% to 100%. The most reported items were related to the study rationale and the selection strategy (inclusion/exclusion criteria), identifying high quality of patients' selection in the included manuscripts. However, most of the studies did not provide separate indications for children with comorbidities. Only 23% of studies reported a complete definition and rates of treatment failure suggesting that this item needs more clarification in future studies. A minority of articles (40%) described the HFNC weaning procedures. Interestingly, most of the interventions took place in ICUs (61%), showing how, in the last decade, this location was the most cited for the use of HFNC in children with bronchiolitis. Our results suggest complete reporting of our TIDieR checklist in future studies may improve the quality of the research on HFNC use in children with bronchiolitis. Our findings encourage researchers to clarify the personalization of treatment administration and to better define the criteria for treatment failure. The adoption of universal definitions in this field is needed to increase the results' comparability and create standardized protocols. Researchers may use the proposed TIDieR checklist to develop, conduct and report clinical research into HFNC and bronchiolitis as this may help to create a consensus for establishing an evidence-based protocol for HFNC. • High-flow nasal cannula (HFNC) is a common device used in children with bronchiolitis in the presence of respiratory distress, after the failure of standard oxygen therapy. However, no evidence-based and standardized protocol for the use of this device is globally available. • By using an adapted Template for Intervention Description and Replication (TIDieR) checklist to review previous studies on HFNC in bronchiolitis, we found a global heterogeneity in the description of interventions with some items of the checklist poorly reported. Thus, we suggest using our TIDieR checklist for developing, conducting and reporting clinical research into HFNC and bronchiolitis as this may help to create a consensus for establishing an evidence-based protocol for HFNC.
被引量：- 发表：1970
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Clinical and molecular spectrum along with genotype-phenotype correlation of 25 patients diagnosed with 3 M syndrome: a study from Turkey.
3 M syndrome is a well-known autosomal recessive skeletal genetic disorder caused by biallelic pathogenic variants in the CUL7, OBSL1, and CCDC8 genes. Affected individuals exhibit profound pre- and postnatal growth retardation, distinctive facial features with normal intelligence. This study aims to provide insight into the comprehensive evaluation of clinical, laboratory, and radiological findings, expand the mutational spectrum of the disease, and establish a genotype-phenotype correlation in the present cases. A total of 25 patients from 19 unrelated families were included in the study. Genetic etiology was determined in probands through the utilization of Sanger sequencing and/or targeted gene panel analysis. The clinical, laboratory, and genetic features of all patients at admission and during follow-up were documented. Genotype-phenotype correlation was carried out in the CUL7 and OBSL1 groups. The genetic etiology was established in all patients (n = 25/25, 100%). We identified 15 distinct variants in CUL7, OBSL1, and CCDC8 genes, with eleven being novel. CUL7 variants were present in 13 patients (n = 13/25, 52%), while OBSL1 variants were found in 11 patients (n = 11/25, 44%). No notable distinctions were found in mean birth weight, height, and standard deviation scores between the CUL7 and OBSL1 mutation groups (p > 0.05). Patients with CUL7 variants exhibited significantly lower height standard deviation scores both at admission and at the last examination, as well as lower weight standard deviation scores at the last examination, compared to those with OBSL1 variants (p < 0.05). To date, genotype-phenotype correlations have been identified in a limited number of studies. Further research involving larger cohorts is necessary to solidify these correlations. • 3M syndrome is a well-known skeletal dysplasia caused by biallelic pathogenic variants in CUL7, OBSL1, and CCDC8 genes. • Despite genetic heterogeneity, clinical, and radiologic features show homogeneity in affected individuals. • Genotype-phenotype correlations have been established in limited studies. • The CUL7 group exhibited significantly lower height SDS at both admission and the final evaluation and lower weight SDS at the final examination compared to the OBSL1 group. • The frequency of variants in the OBSL1 gene among Turkish patients exceeds the rates reported in the literature. • Gradenigo syndrome is being reported for the first time in a patient with 3M syndrome.
被引量：- 发表：1970
