BMC Pediatrics最新文献

Background: Anemia of prematurity (AOP) is prevalent among very low birth weight infants (VLBWIs). Red blood cell (RBC) transfusions, while necessary for managing AOP, have been linked to adverse neonatal outcomes.

Methods: This retrospective study analyzed the medical records of 98 VLBWIs (24-31 weeks gestation) admitted to the Chungbuk National University Hospital neonatal intensive care unit. Infants were categorized based on RBC transfusion status and birth weight (< 1000 g and 1000-1499 g). Clinical outcomes between the groups were compared.

Results: Of the 98 infants, 35 (35.7%) received RBC transfusions. The RBC transfusion group exhibited significantly higher incidence of bronchopulmonary dysplasia ([Formula: see text]moderate), prolonged invasive mechanical ventilation, intraventricular hemorrhage (grades 1-2), extended time to full enteral feeding, and extended total parenteral nutrition (TPN) compared to the non-RBC transfusion group. Birth weight was inversely correlated with the number of RBC transfusions (p = 0.004). The duration of invasive mechanical ventilation and TPN administration were positively associated with the number of RBC transfusions (p < 0.001 and p = 0.025, respectively).

Conclusions: The RBC transfusion group experienced more comorbidities than the non-transfusion group. Birth weight, duration of invasive ventilation, and duration of TPN were associated with the number of RBC transfusions. Strategies to reduce the duration of invasive ventilation and early discontinuation of TPN may mitigate the need for RBC transfusions in AOP.

Background: Vitamin B12 deficiency is a recognised cause of neurological manifestations, including peripheral neuropathy, behavioural changes, and seizures. However, developmental and epileptic encephalopathy due to vitamin B12 deficiency is very rare. Here, we report an infant with vitamin B12-responsive developmental and epileptic encephalopathy due to a novel mutation in the fucosyltransferase 2 (FUT2) gene responsible for vitamin B12 absorption.

Case presentation: An 11-month-old girl of non-consanguineous parents presented with recurrent episodes of seizures since four months. Her seizures started as flexor epileptic spasms occurring in clusters resembling infantile epileptic spasms syndrome with hypsarrhythmia in the electroencephalogram. She was treated with multiple drugs, including high-dose prednisolone, vigabatrin, sodium valproate, levetiracetam and clobazam, without any response, and she continued to have seizures at 11 months. She had an early developmental delay with maximally achieving partial head control and responsive smile at four months. Her development regressed with the onset of seizure; at 11 months, her developmental age was below six weeks. On examination, she was pale and had generalised hypotonia with normal muscle power and reflexes. Her full blood count and blood picture revealed macrocytic anaemia with oval and round macrocytes. Bone marrow aspiration showed hypercellular marrow erythropoiesis with normoblastic and megaloblastic maturation. Due to the unusual association of refractory epilepsy and megaloblastic anaemia, a rare genetic disease of the vitamin B12 or folate pathways was suspected. The whole exome sequencing revealed a homozygous missense variant in exon 2 of the FUT2 gene associated with reduced vitamin B12 absorption and low plasma vitamin B12 levels, confirming the diagnosis of vitamin B12 deficiency related developmental and epileptic encephalopathy. She was started on intramuscular hydroxocobalamin, for which she showed a marked response with reduced seizure frequency.

Conclusion: We report a novel variant in the FUT2 gene associated with vitamin B12-responsive developmental and epileptic encephalopathy and megaloblastic anaemia. This case report highlights the importance of timely genetic testing in children with refractory developmental and epileptic encephalopathy to identify treatable causes.

Background: Previous research has suggested a correlation between postnatal maximum weight loss (MWL) and both neonatal mortality and morbidities in extremely preterm infants. However, the relationship between MWL and neurodevelopmental outcomes remains underexplored.

Methods: In a single-center, retrospective cohort study at Okayama Medical Center, we evaluated data from extremely preterm infants admitted to the neonatal intensive care unit from 2010 to 2020. Infants who died within the first 10 days of life were excluded. MWL in the first 10 days was the main exposure, categorized into three groups: >15%, 5-15%, and < 5%. The primary outcome evaluated was the occurrence of death or neurodevelopmental impairment (NDI) at age 3 years, defined as developmental impairments (developmental quotient [DQ] < 85), cerebral palsy, hearing impairments, or visual impairments. Data analysis involved robust Poisson regression, adjusted for perinatal confounders, with a restricted cubic spline function to examine the dose-response relationship. We also conducted a sensitivity analysis using a DQ of < 70 to define developmental impairment.

Results: Among 135 infants assessed for neurodevelopmental outcomes, 40 were in the > 15% MWL group, 71 in the 5-15% group, and 24 in the < 5% group. Median gestational ages and birth weights were 25.9 weeks and 821 g for > 15% MWL; 26.1 weeks and 818 g for 5-15% MWL; and 26.0 weeks and 734 g for < 5% MWL. Compared with the 5-15% MWL group, the < 5% group exhibited a higher risk of death or NDI at age 3 years (62.8% vs. 80.8%, risk ratio [RR] 1.36, 95% confidence interval [CI] 1.04-1.79) and NDI alone (59.2% vs. 79.2%, RR 1.43, 95% CI 1.06-1.94). Furthermore, higher risks of developmental impairment were also noted in the > 15% (RR 1.32, 95% CI 1.00-1.75) and < 5% (RR 1.46, 95% CI 1.08-1.98) groups. These associations were confirmed by spline analyses. In contrast, the associations between MWL and neurodevelopmental outcomes using a DQ of < 70 were not apparent.

Conclusions: MWL within the first 10 days of life may be associated with increased risks of NDI and developmental impairments by age 3 years in extremely preterm infants.

Background: Parenting a child with disabilities can feel isolating and overwhelming. Understanding the health challenges of parents with disabled children is essential for providing effective healthcare. This study aims to offer a comprehensive view of the health challenges faced by these parents by synthesizing existing literature from various perspectives.

Method: This scoping review conducted using the JBI scoping review method. Searches were performed on PubMed, Web of Science, Scopus, and Google Scholar databases spanning from 2014 to 2024. The initial search yielded 388 articles, with 24 articles undergoing qualitative assessment and data analysis via narrative synthesis.

Results: From the 24 selected articles, three health challenges were identified: physical, emotional, and social health challenges.

Conclusion: Parents of children with disabilities face intricate health challenges, including physical challenges like fatigue, musculoskeletal pain, and sleep issues. Additionally, they experience significant emotional strain, with symptoms of depression, anxiety, and hopelessness. Social isolation and stigma further compound these challenges. A collaborative approach involving healthcare professionals, policymakers, and support organizations can empower parents to thrive in their caregiving roles.

Background: The recommended diet attitude in the recently described galactose mutarotase (GALM) deficiency is not yet established. We describe two 9-years twins who remain asymptomatic despite prolonged partial dietary liberalization from 18 months of age, after two periods of galactose-free diet. It represents the second report in Europe of GALM deficiency.

Case presentation: Two male monochorionic diamniotic twins were detected through newborn screening by galactosuria and increased total blood galactose. They started galactose dietary restriction with biochemical normalization. After exclusion of the three previously described types of galactosemia, a progressively galactose reintroduction was initiated. The clinical follow-up developed include neurological assessment and intelligence quotient, annual ophthalmological evaluation and biannual abdominal ultrasound; whereas the biochemical assessment comprises quarterly determinations of galactose 1-phosphate and galactosuria and annual determination of liver and renal function, 25-OH-vitamin D and calcium levels. Sanger sequencing of GALM gene was complemented by the study of gene dose using SNPs array and a protein modeling to study the conformational changes induced in GALM protein. In both siblings a novel and complete deletion of exon 4 in GALM gene was detected. Both remained asymptomatic, with normal growth and intellectual development, despite dietary liberalization. Evolutionarily, the biochemical profile in blood remained normal with intermittent galactosuria.

Conclusions: The absence of clinical involvement after 7 years of dietary liberalization is interesting to expand the knowledge about the recommended dietary management in this pathology.

Background: This study aimed to evaluate the effectiveness of Egami, Kobayashi and Sano scores in predicting intravenous immunoglobulin (IVIG) resistance in infant Kawasaki disease (KD), considering its unique clinical presentation.

Methods: We retrospectively analysed 143 infants aged < 12 months and diagnosed with KD at a single centre from 2019 to 2023. Patients were divided into IVIG-resistant and IVIG-responsive groups. Demographic, clinical and laboratory data were compared between the groups. The diagnostic performance of Egami, Kobayashi and Sano scores in predicting IVIG resistance was evaluated using sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) and area under the receiver operating characteristic curve (AUC). Additionally, we developed a new scoring system based on significant predictors identified in our cohort.

Results: Among 143 infants, 45 (31.5%) showed IVIG resistance. The IVIG-resistant group had a significantly higher rate of coronary artery lesions (15.6% vs. 5.1%, p = 0.036). Incomplete KD was observed in 61.5% of cases. Egami, Kobayashi and Sano scores exhibited low sensitivity (35.6%, 55.6% and 20%, respectively) and moderate specificity (77.6%, 63.3% and 95.9%, respectively) in predicting IVIG resistance. The AUC ranged from 0.583 to 0.674, indicating poor to fair discriminative ability. Our newly developed scoring system, based on total bilirubin and albumin levels, showed similar performance (AUC 0.633) to existing scores.

Conclusions: Existing Japanese risk scoring systems and our newly developed score showed limited effectiveness in predicting IVIG resistance in infant KD. The high proportion of incomplete presentation and IVIG resistance in infants highlights the need for age-specific risk assessment and management. Further research is necessary to develop more sophisticated, dedicated prediction model for IVIG resistance in infants with KD.

Background: Since the 1920s, motor development has been a strong research theme, focusing on infants' acquisition of motor skills, such as turning over and crawling. In the 1980s, a dynamic systems approach began emphasizing children's own motivation, which helped explain individual differences in the emergence of motor skills. However, few studies have examined factors contributing to individual differences in early motor development. In response, we investigated directional associations between temperament and motor development in children aged 6 months to 3 years.

Method: The Japan Environment and Children's Study (JECS-A) recruited mothers between January 2011 and March 2014. 2,639 mothers were sent a questionnaire at 6 months, and responses were received from 1,657 of them, with full data for children aged 6 months, 2 years, and 3 years, including from three mothers of twins, were analyzed through structural equation modeling. Question items regarding fine and gross motor activities at each age were selected by pediatric neurologists specializing in developmental disorders. The Japanese version of the Little Developmental Coordination Disorder Questionnaire was administered at 42 months. Temperament was assessed through the parent-reported Behavior Questionnaire (short version) for infants, toddlers, and children. In all three measures, Surgency and Negative Affectivity were extracted, and Effortful Control, a major form of self-regulation, was found from toddlerhood onward, as in previous studies.

Results: A path diagram reveals that at 6 months, Surgency and Orienting/Regulation interacted positively with the motor function (respectively, r = .57; r = 40, ps < .001). Up to about 3 years, Effortful Control plays a role in facilitating the motor function, resulting in positive effects on Control During Movement (CDM), General Coordination (GC), and Fine Motor Movement (FMM) (β = 14; β = 30; β = 37, ps < .001). Surgency had a positive effect on CDM and GC (β = 18; β = 06, ps < .001), whereas Negative Affect had a negative influence on FMM and GC (β = -.08; β = -.08, ps < .001).

Conclusion: While Surgency may be a key reactive factor in early motor development, Effortful Control and Movement develop in an interactive manner.

Trial registration: UMIN000030786. Scientific Title: The Japan Environment and Children's Study. Date of disclosure of the study: 2018/01/15. Only questionnaires were administered in the study.

Background: Intra-lobar (ILS) and extra-lobar lung (ELS) sequestrations represent rare congenital lung malformations. Despite their benign nature, the lesions pose risks such as recurrent pulmonary infections, hemoptysis, congestive heart failure, and tumor development. Pulmonary sequestration (PS) typically manifests in two forms, ILS and ELS, with bilateral occurrence being exceptionally rare and mostly requiring bilateral thoracic surgery.

Case presentation: A 9-year-old child, who initially presented with bilateral lung lesions without respiratory symptoms, was diagnosed with PS following a chest computed tomography scan. The surgical approach was determined based on the absence of inflammation and the clear demarcation of the lesions from normal lung tissue, highlighted by a unique tissue connection between the ILS and ELS across the chest cavities. We used a novel method wherein the left ELS was successfully pulled into the right chest cavity and both sequestrations were concurrently resected. Postoperative recovery was smooth, with no complications or residual lesions.

Conclusions: Our findings highlight the importance of thorough preoperative planning with enhanced computed tomography. Simultaneous unilateral thoracoscopic surgery can be a viable, less invasive option for treating bilateral PS, offering benefits such as reduced recovery time and better cosmetic outcomes.

Background: Diarrheal disease is still the leading cause of morbidity and mortality in children, despite significant progress in diarrhea interventions. Zoonotic transmission is the main cause of the emergence and re-emergence of diseases. Domestic animals are often close to humans, particularly in resource-poor countries. Despite evidence of environmental contamination, there have been limited studies conducted to examine the association between domestic animal exposure and diarrheal disease in low- and middle-income countries (LMIC). Therefore, this systematic review and meta-analysis examines the association between domestic animal exposure and diarrheal disease in children under five years of age in LMIC.

Methods: The search strategy followed PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines for the reporting of systematic reviews. All appropriate databases were searched to find relevant articles. Research studies were selected for review if they reported an outcome variable that measured diarrhea and exposure variables of any domestic animals. A data extraction form was used to extract information from each study. The quality of the individual articles was assessed using the Joanna Briggs Institute (JBI's) critical appraisal tools. Publication bias was checked using a funnel plot, Egger's regression test, and Begg's test. The heterogeneity of studies was checked using the Galbraith plot and the I-squared test. A sensitivity analysis was conducted, and a meta-analysis was conducted using STATA 17.

Results: After reviewing 113 articles, 11 articles fulfilled the inclusion criteria hence considered for meta-analysis. The finding of these 11 studies revealed that study participants who had animal exposure had 1.95 higher odds of diarrhea as compared to participants who hadn't animal exposure (OR: 1.95, 95%CI: 1.25, 2.66).

Conclusions and recommendations: This study reported that diarrheal disease was associated with study subjects who had domestic animal exposure. Therefore, more comprehensive research is needed on specific behaviors and interventions surrounding animal husbandry that may affect the transmission of pathogens between animals and humans; this would facilitate the design and implementation of measures to reduce animal exposure in the domestic environment.