Pediatric Research最新文献

The rapid and accurate diagnosis of rare diseases is paramount in directing clinical management. In recent years, the integration of multi-omics approaches has emerged as a potential strategy to overcome diagnostic hurdles. This review examines the application of multi-omics technologies, including genomics, epigenomics, transcriptomics, proteomics, and metabolomics, in relation to the diagnostic journey of rare diseases. We explore how these combined approaches enhance the detection of pathogenic genetic variants and decipher molecular mechanisms. This review highlights the groundbreaking potential of multi-omics in advancing the precision medicine paradigm for rare diseases, offering insights into future directions and clinical applications. IMPACT: This review discusses using current tests and emerging technologies to diagnose pediatric rare diseases. We describe the next steps after inconclusive molecular testing and a structure for using multi-omics in further investigations. The use of multi-omics is expanding, and it is essential to incorporate it into clinical practice to enhance individualized patient care.

Introduction: Dog ownership is common in families with children and could play a role in children's social-emotional development. This study used longitudinal data on dog ownership and changing dog ownership to investigate their effects on young children's social-emotional development.

Methods: Parents reported family dog ownership when their child was aged 2-5 years and at 5-7 years. Children (n = 591) were assigned to a dog ownership group by combining their current and prior dog ownership status. The parent-report Strengths and Difficulties Questionnaire (SDQ) measured children's social-emotional development at 5-7 years. Analyses included linear, Poisson, and logistic regression and adjusted for socio-demographic factors.

Results: Girls who acquired a dog had significantly higher peer problems scores than non-dog owner girls (exp(β) = 1.8; 95% CI 1.3, 2.6). Boys who acquired a dog had significantly lower peer problems scores than continuing non-dog owner boys (exp(β) = 0.5; 95% CI 0.3, 0.8). There were no other significant effects observed between dog ownership group and SDQ scores or the odds of having abnormal scores.

Conclusions: Overall, changing or continuing dog ownership status had minimal impact on young children's social-emotional development. Future longitudinal research should examine the effects of dog ownership on child development by family characteristics and attachment to the dog.

Impact: Dog acquisition was associated with higher peer problems for girls and lower peer problems for boys, but not the odds of having abnormal peer problems scores. Dog acquisition, dog loss, and continuing dog ownership status were not associated with other measure of social-emotional development. This study used longitudinal data to examine effects of dog ownership on child development. Overall, changing or continuing dog ownership status had minimal impact on young children's social-emotional development. Since dog ownership is selected into, longitudinal research is needed to confirm if changes in children's social-emotional development occur following changes in dog ownership.

Background: Probiotic administration may decrease the incidence of necrotizing enterocolitis (NEC) through mechanisms that are largely unknown. We investigated the effects of probiotics on intestinal epigenetics and assessed their effects on intestinal inflammation and motility using both ileum-predominant and combined ileo-colitis mouse NEC models.

Methods: C57BL/6 J mice were gavage-fed a multi-strain probiotic from postnatal days 3-11, consisting of B. infantis, B. lactis, and S. thermophilus. From p8, mice were exposed to ileo-colitis NEC involving formula containing NEC bacteria and 0.5% DSS. DNA methylation was measured using the Infinium Methylation Assay. Gastrointestinal motility was assessed by 70 Kd FITC-dextran transit time. Probiotic colonization was measured in probiotic-fed mice by qPCR.

Results: Probiotic administration caused significant changes in the small intestine's epigenetic signature, a reduction in NEC severity, and improved intestinal motility. The effects of probiotics were more pronounced in the ileo-colitis NEC model.

Conclusions: These findings shed light on the role of probiotics in two clinically relevant models of NEC, add additional insights into their underlying mechanism of action, and reveal unanticipated epigenetic modifications to the intestinal mucosa after their use.

Impact: These findings shed light on the role of multi-strain probiotics in two clinically relevant animal models of NEC, and add additional insights into their underlying mechanism of action This study provides a new, clinically relevant model for the study of NEC including administration of 0.5% DSS, to include ileal dominant and ileo-colonic dominant phenotypes of the disease. These results reveal that clinically relevant strains of probiotic bacteria can exert epigenetic effects on the small intestine in mice, and can attenuate the epigenetic changes induced by NEC.

Background: Diagnosing anaphylaxis in children within the first 2 years of life can be difficult due to the often confusing and nonspecific signs and symptoms.

Objective: This study focuses on the phenotype of anaphylaxis in children within the first 2 years of life and aims to increase awareness of anaphylaxis in this age group.

Methods: The study included children between 0 and 2 years who were diagnosed as having anaphylaxis by pediatric allergists in 11 tertiary hospitals.

Results: A total of 402 anaphylaxis episodes experienced by 360 patients (68.7% males) were included in the study. Food was the most common causative agent (n = 374, 93%), with the most common foods being cow's milk (n = 179, 44.6%). Drugs were the second most common trigger (n = 15, 3.7%). The most common clinical findings were cutaneous (95%) and respiratory (72%); nonspecific symptoms such as weakness (n = 63, 15.6%) and hoarseness (n = 14, 3.4%) were also reported. There was a biphasic course in 3 infants (0.8%). Only 3 of the 41 parents who had an adrenaline autoinjector used it during anaphylaxis.

Conclusion: Infants experience anaphylaxis most often when they are at home with their mothers, and the most common triggers are foods, particularly cow's milk and egg. Greater awareness of anaphylaxis symptoms and autoinjector use among mothers can facilitate management.

Impact: Infant anaphylaxis cases may present with different symptoms compared to classic presentations, potentially leading to diagnostic oversight. The study elucidates the clinical course of anaphylaxis in children under 2 years of age. It details the treatment strategies employed in managing these cases. Anaphylaxis triggers were identified over several years. Cases from 11 regions of Turkey were included, representing a population reflective of national data. The study highlights the distinctiveness of anaphylaxis cases in children within the first 2 years of life.

Impact: Respiratory monitoring is an essential part of routine clinical care of the newborn. Recent technological developments have improved respiratory monitoring and allowed for a two-way interaction between the monitored parameter and the level of the provided respiratory support. We herein discuss applications of monitoring by neurally adjusted ventilatory assist, closed-loop oxygen control, tidal capnography, lung ultrasound, diaphragmatic electromyography and lung magnetic resonance imaging.

Objective: To explore the role of daily trans-anal irrigation (TAI) before pull-through surgery in preventing Hirschsprung disease-associated enterocolitis (HAEC) and improving other clinical outcomes in short-segment Hirschsprung disease (HSCR).

Methods: We enrolled the children with short-segment HSCR who received primary pull-through surgery from February 2012 to August 2019 at our hospital. They were divided into two groups. Daily TAI group: daily TAI once diagnosed until undergoing surgery. Non-daily TAI group: anal dilation or glycerine enema, supplemented with TAI if these were noneffective. HAEC, nutritional status at surgery, postoperative rehabilitation, and long-term defecation function were compared.

Results: A total of 191 children were enrolled, 147 in the Daily TAI group and 44 others. 44 pairs of children were successfully matched by 1:1 propensity score matching. In all, 10 (11.36%) of the 88 children developed HAEC, 5 (5/44, 11.36%) in the Daily TAI group and 5 (5/44, 11.36%) in another, and the difference was not statistically significant (χ² = 0.000, p = 1.000). Besides, there was no significant difference in the nutritional status at surgery, postoperative rehabilitation indicators, and the defecation function.

Conclusion: For children with short-segment HSCR, preoperative daily TAI had no significant advantage over non-daily TAI in preventing HAEC and improving other clinical outcomes.

Impact: For children with short-segment Hirschsprung disease, one or more times trans-anal irrigations (TAI) per day before pull-through surgery may not be necessary. Daily TAI had no significant advantage over non-daily TAI in preventing preoperative and postoperative HAEC. Whether to receive daily TAI before surgery did not affect postoperative recovery and long-term defecation function.