Frontiers in Pediatrics最新文献

Introduction: Recently, researchers have introduced the concept of 'early term' infants, defined as infants born at 37 or 38 weeks of gestation, and their outcome has been discussed. Although the complications experienced by early term are less severe than those in preterm infants, this group accounts for a much larger proportion of newborns, making the assessment of outcomes important in clinical practice.

Methods: This observational study of term infants born at Tokyo Metropolitan Toshima Hospital aimed to understand the short-term outcomes in early term infants. Data extracted from the medical records were analyzed.

Results: Among 4,669 eligible participants, 463 (9.9%) were born at 37 weeks and 1,270 (27.2%) were born at 38 weeks. The remaining 2,936 infants were born after 39 weeks of gestation. Logistic regression analysis showed higher odds ratio of hospitalization (1.56, 95% CI: 1.37-1.79, p < 0.05), apnea (2.23, 95%CI: 1.08-4.60, p < 0.05), and hypoglycemia (3.13, 95%CI: 1.95-5.03, p < 0.05) in early term infants. In detail, infants born at 37 weeks of gestational age had higher odds ratio for hospitalization (2.07, 95%CI: 1.68-2.35, p < 0.05) and hypoglycemia (4.11, 95%CI 2.22-7.60, p < 0.05) than infants born at 38 weeks of gestational age (1.40, 95%CI: 1.20-1.62, p < 0.05, and 2.78, 95%CI: 1.66-4.67, p < 0.0 respectively).

Discussion: This study revealed complicated clinical course in early term infants, and represents one of the largest contributions to understanding the outcomes of early term infants, and could help to determine strategies for elective cesarean section. According to this result, elective cesarean sections would be better planned at 38 weeks of gestational age. Moreover, in clinical practice, it is important to be aware of the complicated clinical course in early term infants.

Background: The exact mechanism of hyperammonemia is thought to be multifactorial, but is not yet fully understood. No studies have yet reported hyperammonemia combined with Fanconi syndrome caused by deferasirox.

Case presentation: A 10-year-old girl was admitted for vomiting and altered consciousness. Blood testing revealed hyperammonemia and normal liver and coagulation functions. During hospitalization, the patient also exhibited hyperchloremic metabolic acidosis, hypokalemia, hyponatremia, and hypophosphatemia. Additionally, urinalysis revealed glucose and protein levels clinically consistent with Fanconi syndrome. The patient had a history of severe beta-thalassemia and had received intermittent blood transfusions for approximately ten years. The patient had been administered oral deferasirox at a 400 mg/day dose at the age of four, which had been gradually increased to the current 750 mg/day dosage. Upon admission, deferasirox was discontinued and treatment including mechanical ventilation, continuous blood purification therapy for ammonia reduction and acidosis, and electrolyte imbalance corrections was administered. Subsequently, serological markers returned to normal, urine test findings improved. To the best of our knowledge, this is the first report of a case of hyperammonemia with Fanconi syndrome owing to deferasirox.

Conclusions: For effective management and long-term follow-up of chronic diseases in children, pediatricians must master standardized treatments and the adverse reactions of various drugs. When symptoms are difficult to explain clinically, we must trace the source and adjust the treatment plan to maximize improving the patient's prognosis.

Background: Functional constipation in children is a worldwide problem that impacts both children's gastrointestinal function and the quality of family life. The treatment of this condition often depends on parental involvement to administer rectal interventions to their children to stimulate defecation. However, adherence to rectal interventions is currently suboptimal. We sought to explore the factors that facilitate and hinder parents from adherence to rectal interventions.

Methods: A descriptive qualitative study was conducted involving semi-structured interviews with parents of infants and young children with functional constipation requiring rectal interventions from March to May 2023. The data were analyzed using content analysis.

Results: Fourteen parents participated in the study. Parents reported the main facilitators of adherence to prescribed rectal interventions as recognition of illness severity, support from family and friends, and medical resource support and e-health literacy. Parents reported the primary barriers as information barriers, family conflict, cognitive misalignment, and difficulties in accessing healthcare services.

Conclusion: Rectal interventions are often essential in managing constipation in young children, with parental compliance being crucial for effective treatment. Healthcare providers must consider the psychosocial aspects of parents' perceptions, adhere to guidelines to standardize communication, and ensure comprehensive education to improve medication literacy.

Introduction: Patients with childhood-onset systemic lupus erythematosus (c-SLE) have higher rates of depression than their peers, which has been associated with worse medical outcomes. Therefore, it is imperative that their mental health be addressed. We utilized quality improvement (QI) methodology to automate mental health screening for patients with lupus within a pediatric rheumatology clinic. The retrospective cohort study aims to evaluate the association between mental health screening outcomes and demographics, medications, and disease activity measures in patients with childhood lupus.

Methods: The mental health QI team at a quaternary pediatric rheumatology center implemented an automated process for mental health screening in patients with c-SLE. Patients seen between 2017 and June 2023 with a diagnosis of c-SLE were identified using International Classification of Disease -Clinical Modification (ICD-CM) codes. Disease activity was assessed with the Systemic Lupus Erythematosus Disease Activity Index 2000 (SLEDAI 2K). Medications were identified on outpatient and inpatient orders for conventional synthetic and biologic disease-modifying anti-rheumatic drugs, hydroxychloroquine, corticosteroids, and aspirin. Mental health screening was accomplished with the Patient Health Questionnaire (PHQ). Descriptive statistics, univariate and multivariate linear regression were used.

Results: Between January 2017 and June 2023, 117 patients with c-SLE (41% with lupus nephritis) completed 534 total screenings. Each patient completed PHQ screenings, a median of 5 [interquartile range 2, 6] times. Screening increased when the screening process was automated. Those who were Black, female, or prescribed leflunomide, mycophenolate, and corticosteroids had higher PHQ scores.

Conclusions: Mental health support is essential for patients with chronic rheumatologic diseases such as SLE. Sustainable processes for quickly identifying depression are needed for optimal care of patients with SLE. Our process of automated, streamlined mental health screening successfully increased the screening of patients with SLE at every visit and led to timely interventions for positive PHQ scores. Higher PHQ scores were correlated with patients on leflunomide, mycophenolate, and corticosteroids. Future research should identify modifiable risk factors for high PHQ scores that the medical team can target.

Background: The effects of long-term glucocorticoid (GC) treatment on bone mineral density (BMD) in patients with congenital adrenal hyperplasia (CAH) remain controversial.

Objectives: This cross-sectional study aimed to evaluate BMD in relation to genotype, growth, vitamin D status, cumulative GC doses, and other relevant factors in youths with CAH.

Methods: Thirty-two patients with classical CAH (13 males; mean age 26.0 ± 7.1 years) were compared with 32 healthy controls matched by age and sex. BMD was measured using dual-energy x-ray absorptiometry, and statistical analyses, including the Mann-Whitney U-test and Spearman's correlation coefficient, were performed to evaluate differences and associations.

Results: Median whole-body and lumbar BMD Z-scores were similar between CAH patients and controls (p = 0.27 and 0.15, respectively). Low bone density was observed in 12.5% of CAH patients and 18.75% of controls (p = 0.5), and osteoporosis was confirmed in 12.5% of CAH patients and 0% of controls (p = 0.04). BMD did not correlate with cumulative GC doses, estradiol, renin, phosphate, sodium levels, or anthropometric parameters in CAH patients. There was no significant difference in BMD between severe and non-severe genotypes of CAH. However, a positive correlation was found between the whole-body BMD Z-score and growth velocity during infancy (r = 0.776, p = 0.021) in CAH patients. Vitamin D deficiency was noted in 56.25% of CAH patients, although vitamin D levels did not correlate with BMD or genotype. No history of bone fractures was reported among study participants.

Conclusions: CAH patients are at risk of developing osteoporosis, but in this study, BMD Z-scores were not associated with cumulative GC doses. The study did not identify an association between genotype and BMD. Poor growth during infancy was linked to decreased BMD in adulthood.

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.