Frontiers in Pediatrics最新文献

Background: Tadpole pupil is a rare phenomenon characterized by a brief and irregular deformation of the pupil caused by segmental contraction of the iris dilator muscle. It is most prevalent in adult women and is, in these cases, often associated with migraine.

Case presentation: We present a unique case of a 16-year-old girl who presented with recurrent episodes of tadpole pupil and vestibular migraine. This association has not been previously demonstrated in pediatric patients. During a thorough clinical examination, a thyroid carcinoma was found which due to its localization was not causative of the tadpole pupil and was considered an incidental finding.

Conclusions: The association between migraine and tadpole pupil in this patient, which has not previously been described in pediatric patients, adds to the demographics of tadpole pupil. A possible pathophysiological link between the two conditions is discussed but further research is needed to understand the pathophysiology underpinning it.

Fetomaternal hemorrhage (FMH) is a perplexing obstetric condition that predominantly occurs during the third trimester or at the time of delivery. Its insidious and non-specific onset often leads to diagnostic challenges. The underlying pathophysiology of FMH remains incompletely understood, though it is primarily attributed to compromise of the placental barrier. The severity of the condition is intrinsically associated with the volumn of blood loss, the hemorrhage rate, and the presence of alloimmunity. Upon the occurrence of severe FMH, it can rapidly lead to intrauterine distress, fetal anemia, and the possibility of fetal demise, presenting a considerable threat to both maternal and neonatal well-being. In this article, I present a substantial case of FMH and conduct a systematic review of the current scientific literature regarding the etiology, clinical manifestations, diagnostic approaches, treatment highlights, and prognosis of this condition. The objective of this work is to improve clinicians' comprehension and diagnostic proficiency concerning FMH.

We successfully treated a 4-year-old girl with short bowel syndrome and eosinophilic enterocolitis with teduglutide, a glucagon-like peptide-2 analog. Her eosinophilic enterocolitis was cured without relapse, and we were able to increase enteral nutrition. We found that teduglutide had an anti-inflammatory effect in this patient with eosinophilic gastrointestinal disease associated with short bowel syndrome. This report is the first to describe use of teduglutide in the treatment of eosinophilic gastrointestinal disease.

Background: Genetic diseases exhibit significant clinical and genetic diversity, leading to a complex and challenging diagnostic process. Exploiting novel approaches is imperative for the molecular diagnosis of genetic diseases. In this study, we utilized whole-exome sequencing (WES) to facilitate early diagnosis in patients suspected of genetic disorders.

Methods: This retrospective analysis included 144 patients diagnosed by singleton-WES Trio-WES between January 2021 and December 2023. We investigated the relevance of diagnosis rates with age, clinical presentation, and sample type.

Results: Among the 144 patients, 61 were diagnosed, yielding an overall diagnostic rate of 42.36%, with Trio-WES demonstrating a significantly higher diagnostic rate of 51.43% (36/70) compared to singleton-WES at 33.78% (25/74) (p < 0.05). Global developmental delay had a diagnosis rate of 67.39%, significantly higher than muscular hypotonia at 30.43% (p < 0.01) among different clinical phenotypic groups. Autosomal dominant disorders accounted for 70.49% (43/61) of positive cases, with autosomal abnormalities being fivefold more prevalent than sex chromosome abnormalities. Notably, sex chromosome abnormalities were more prevalent in males (80%, 8/10). Furthermore, 80.56% (29/36) of pathogenic variants were identified as de novo mutations through Trio-WES.

Conclusions: These findings highlight the effectiveness of WES in identifying genetic variants, and elucidating the molecular basis of genetic diseases, ultimately enabling early diagnosis in affected children.

Background: This study aimed to explore the distribution of intestinal and pharyngeal microbiota on the first day of life in preterm infants and compare the composition of microbiota in infants delivered by cesarean section or vaginally.

Methods: This study included 44 late preterm infants with a gestational age of 34-36 ^+ 6 weeks. Stool and throat swab samples were collected from the preterm infants on the first day of life. The infants were divided into cesarean section and vaginal delivery groups. Illumina NovaSeq high-throughput sequencing technology was used to sequence the V3-V4 hypervariable region of the 16S rRNA gene of all bacteria in the samples. Venn diagram was used to identify shared operational taxonomic units (OTUs) in the intestines and pharynges. Microbial analysis was conducted at the phylum and genus levels, and α and β diversity comparisons were performed.

Results: (1) Gestational age may have significantly affected the microbial colonization of the intestines and pharynges of preterm infants on the first day after birth (p ≤ 0.001). (2) More OTUs were detected in the pharynx than in the intestines, both have a total of 819 shared OTUs. Proteobacteria, Firmicutes, and Bacteroidota were the dominant phyla in both. At the genus level, Streptococcus had a lower relative abundance in stool samples (0.5%) compared to throat samples (0.5% vs. 22.2%, p = 0.003). 3) The relative abundance of Streptococcus in pharyngeal samples was 26.2% in the cesarean section group much higher than the 3.8% in the vaginal delivery group (p = 0.01).

Conclusion: The early postnatal period is a critical time for the establishment of an infant's microbiota. Gestational age at birth may influence microbial colonization, while birth weight, gender, and mode of delivery do not. The intestinal and pharyngeal microbiota composition of preterm infants on the first day after birth showed high similarity, but larger samples are needed for further validation.

Background: COVID-19, the pandemic that hit the world in 2020, resulted in millions of deaths, with the elderly and adults succumbing to the disease more often than children. However, the presence of underlying morbidities increased the risk of death. Sickle cell disease (SCD) was previously classified as a major risk factor for severe COVID-19 disease. However, presently, there are only a limited number of studies that identify the clinical course of children with SCD and COVID-19.

Methods: We conducted a retrospective observational study on children with SCD admitted due to COVID-19 at three different institutions in Saudi Arabia between March 2020 and March 2022. We studied the demographic and clinical characteristics of patients admitted to the hospital.

Results: Seventy-six patients with SCD had PCR-confirmed SARS-CoV-2 during the study period; 50.0% of our patient population were children (6-12 years old). Gender was evenly distributed, with 53.9% girls and 46.1% boys. Symptoms more commonly related to the COVID-19 infection included fever, cough, malaise, and vomiting. Chest x-ray findings revealed mild and non-specific symptoms only in approximately one-third (28) of the included children. The most common symptoms associated with SCD were vaso-occlusive crisis (47.4%) and abdominal pain (11.8%). The overall general appearance of most of the patients was reassuring. The median length of hospital stay was 4.2 ± 2.7 days. The mean white blood cell count was 11.4 ± 5.2 × 10⁹/L, and the mean hemoglobin level was 8.3 ± 1.5 g/dl. Despite the fact that higher levels of mean D-dimer, lactate dehydrogenase, and ferritin were reported in these patients, the clinical outcome was not affected. All recruited patients received hydroxyurea as maintenance therapy. The outcome of our study was reassuring, with no significant morbidity or mortality observed among the recruited patients.

Conclusion: Despite SCD being a chronic disease with known specific complications, there has been a claim that COVID-19 infection adds further risk. The results of this study suggest that the overall outcome of COVID-19 was favorable, with no reported mortality. Further research is needed to understand the factors that contributed to this favorable outcome. In children with SCD, it is still questionable whether hydroxyurea is one of the protective factors against severe COVID-19. Validation through large-scale research is recommended.

Objectives: Biologics are important therapeutic agents for pediatric Crohn's disease. Discontinuation of biologics is known to increase the relapse rate up to 71.4% in these patients; however, their long-term use increases the risk of opportunistic infections and causes economic burden and psychological fatigue. Therefore, taking a drug holiday is meaningful, even if the biologics cannot be completely discontinued. This study aimed to analyze the risk factors affecting relapse after discontinuation of biologics in children with Crohn's disease.

Methods: We retrospectively reviewed the data of 435 children with Crohn's disease who visited a single health center between March 2013 and March 2021. Subsequently, we analyzed data from the patients who discontinued biologics after deep remission.

Results: Among the enrolled patients, 388 were followed up for ≥2 years, and of these, 357 were administered biologics. A total of 103 patients discontinued biologics after deep remission, subsequently 31 maintained remission and 72 relapsed. The shorter the duration of biologic treatment (odds ratio of 0.444, P = 0.029), the higher the ESR (odds ratio of 1.294, P = 0.009) and fecal calprotectin (odds ratio of 1.010, P = 0.032), and the less histological remission at the time of discontinuation of biologics (odds ratio of 0.119, P = 0.026), the greater the risk of relapse after discontinuation of biologics.

Conclusions: We identified factors associated with relapse after discontinuation of biologics. The results suggest that biologics can be discontinued in the absence of these factors after deep remission. However, because the relapse rate may increase after the discontinuation of biologics, close monitoring is important, and if necessary, re-administration of biologics should be actively considered.

Objective: This study aimed to develop a nomogram to predict adverse outcomes in neonates with necrotizing enterocolitis (NEC).

Methods: In this retrospective study on neonates with NEC, data on perinatal characteristics, clinical features, laboratory findings, and x-ray examinations were collected for the included patients. A risk model and its nomogram were developed using the least absolute shrinkage and selection operator (LASSO) Cox regression analyses.

Results: A total of 182 cases of NEC were included and divided into a training set (148 cases) and a temporal validation set (34 cases). Eight features, including weight [p = 0.471, HR = 0.99 (95% CI: 0.98-1.00)], history of congenital heart disease [p < 0.001, HR = 3.13 (95% CI:1.75-5.61)], blood transfusion before onset [p = 0.757, HR = 0.85 (95%CI:0.29-2.45)], antibiotic exposure before onset [p = 0.003, HR = 5.52 (95% CI:1.81-16.83)], C-reactive protein (CRP) at onset [p = 0.757, HR = 1.01 (95%CI:1.00-1.02)], plasma sodium at onset [p < 0.001, HR = 4.73 (95%CI:2.61-8.59)], dynamic abdominal x-ray score change [p = 0.001, HR = 4.90 (95%CI:2.69-8.93)], and antibiotic treatment regimen [p = 0.250, HR = 1.83 (0.65-5.15)], were ultimately selected for model building. The C-index for the predictive model was 0.850 (95% CI: 0.804-0.897) for the training set and 0.7880.788 (95% CI: 0.656-0.921) for the validation set. The area under the ROC curve (AUC) at 8-, 10-, and 12-days were 0.889 (95% CI: 0.822-0.956), 0.891 (95% CI: 0.829-0.953), and 0.893 (95% CI:0.832-0.954) in the training group, and 0.812 (95% CI: 0.633-0.991), 0.846 (95% CI: 0.695-0.998), and 0.798 (95%CI: 0.623-0.973) in the validation group, respectively. Calibration curves showed good concordance between the predicted and observed outcomes, and DCA demonstrated adequate clinical benefit.

Conclusions: The LASSO-Cox model effectively identifies NEC neonates at high risk of adverse outcomes across all time points. Notably, at earlier time points (such as the 8-day mark), the model also demonstrates strong predictive performance, facilitating the early prediction of adverse outcomes in infants with NEC. This early prediction can contribute to timely clinical decision-making and ultimately improve patient prognosis.

Introduction: Complementary feeding is a critical transitional phase in the life of an infant, and complementary foods should be prepared, stored, and fed hygienically, with clean hands, dishes, and utensils to prevent diseases. However, the prevalence and risk factors associated with hygienic complementary feeding practice have not been well addressed in Ethiopia, especially in the study area.

Objective: This study aimed to assess hygienic practices and associated factors during complementary feeding among mothers with children aged 6-24 months in Borecha Woreda, Buno Bedele Zone, southwestern Ethiopia, in 2022.

Methods: A community-based cross-sectional study was conducted using a multistage sampling technique. The study was conducted on 536 mothers of children aged 6-24 months in Borecha Woreda from 1 March to 1 April 2022. Data were collected using an interviewer-administered questionnaire. The data were coded, cleaned, edited, and entered into Epi-Data version 4.6 and then exported to SPSS version 20.0 for further analysis. Both bivariate and multivariable logistic regression models were fitted. Moreover, crude (for bivariate) and adjusted (multivariable) odds ratios (AORs) with 95% confidence intervals (CIs) were computed to assess the association between independent factors and outcome variables. A p-value of <0.05 was considered statistically significant.

Result: Out of 536 respondents, 350 (65.3%) exhibited poor hygienic practices during complementary feeding. The risk of poor hygienic practices was about two times higher among women over 30 than those under 25 (AOR: 1.8; 95% CI: 1.11-2.90). Mothers whose husbands had primary education or higher had a 50% reduced risk (AOR: 0.50; 95% CI 0.31-0.83) of poor hygienic care practices during complementary feeding compared to their counterparts. The odds of poor hygiene practice among mothers with poor knowledge of hygienic care were 2.71 times higher than those with good knowledge (AOR: 2.71; 95% CI: 1.60-4.61).

Conclusion: The prevalence of poor hygienic practices during the preparation and handling of complementary foods among mothers in Borecha Woreda is high compared to other studies. Therefore, improving hygiene practices during complementary food preparation requires the involvement and responsibility of policymakers, the community, and families.

Background: Vacuum bell (VB) is a technique to treat pectus excavatum in children. Its effectiveness and influencing factors, however, remain under investigated. The aim of this study was to examine the therapeutic effect and its influencing factors of VB in children with pectus excavatum.

Methods: A cross-sectional observational study was conducted. Parents of children with pectus excavatum who underwent treatment with a VB between January 2018 and December 2019 were recruited. A survey was designed based on previously related studies and delivered to the parents in September-October 2021. The therapeutic effect was analyzed using subjective experiences by parents. Factors related to effectiveness were analyzed through univariate analysis and multivariate logistic regression.

Results: Of the 77 surveys distributed, 65 (84%) were returned. The mean duration of VB was 23.20 (SD 9.86) months. Caregivers rated the effect of VB treatment as moderate (41.5%), good (46.2%), excellent (12.3%). There were 39 children (60%) who had at least one pause of using VB for more than two weeks. Univariate analysis showed no significant difference between age, height, weight, duration of VB (months) and the effectiveness of VB therapy as defined by caregivers (p > 0.05) and significant difference were observed of the variables "complication of petechiae" (p = 0.034) and "device returned to manufacturer for repair" (p = 0.011). The multivariate logistic regression showed that the occurrence of complication petechiae (p = 0.046) was an influential factor for the effectiveness of VB.

Conclusions: The evaluations reported by the parents suggested that the VB treatment was effective, although with varying degrees. The complication of petechiae seems an influencing factor to successful VB treatment in children with pectus excavatum. Further studies are needed to assess the long-term outcome and effect of VB and to improve the device and to reduce complications in order to enhance compliance and improve effectiveness.