BMC Pediatrics最新文献

Background: To investigate the functional characteristics of heterozygous variants in the SALL1 gene in two children with Townes-Brocks syndrome (TBS), as well as the underlying mechanisms leading to chronic kidney disease.

Methods: We retrospectively analyzed the clinical manifestations, laboratory findings, and genetic backgrounds of two TBS patients admitted to our hospital presenting with chronic kidney disease stage 2 and focal segmental glomerulosclerosis (FSGS). The genetic function was investigated through cultured cells transfected with variants. The Sall1 protein expression level was detected by western blotting. Immunofluorescence was also employed to detect the subcellular localization of SALL1.

Results: Novel heterozygous genetic variations (c.3175 C > T and c.694 C > T) were detected in two respective probands with distinct clinical presentations: Proband 1 presented with polydactyly, nephrotic syndrome, and stage 2 chronic kidney disease; while Proband 2 manifested renal dysplasia, progressive proteinuria, and also stage 2 chronic kidney disease. FSGS was confirmed by kidney biopsies from both probands. To assess the functional impact of these variations, we introduced mutant plasmids carrying the c.3175 C > T and c.694 C > T variants into podocytes. The expression level of variant c.3175 C > T(p.Q1059X) in podocytes showed a significant decrease compared to that of the wild-type (P < 0.05), whereas variant c.694 C > T(p.Q232X) was markedly upregulated (P < 0.01). Immunofluorescence analysis revealed aberrant localization patterns for both SALL1 variants within podocytes.

Conclusions: Two patients with Townes-Brocks syndrome (TBS) harboring novel variants presented atypical phenotypes, characterized primarily by significant and rapidly progressing renal involvement. Rare renal biopsy pathology revealed the presence of focal segmental glomerulosclerosis (FSGS) in both cases. Experimental validation demonstrated that both variants led to alterations in the molecular size, expression level, and localization of the Sall1 protein, suggesting that these SALL1 gene variants might contribute to FSGS by impacting podocyte function.

Background: Eosinophilic esophagitis (EoE) is a chronic inflammatory disorder characterized by symptoms of esophageal dysfunction and eosinophil-predominant inflammation. Dupilumab is a human monoclonal antibody that targets both IL-4 and IL-13 signaling. It is currently indicated for the treatment of asthma, atopic dermatitis, and EoE. This study aimed to describe children with EoE that is difficult to treat using conventional treatment and to identify symptomatic, histological, and endoscopic improvements after dupilumab treatment.

Materials and methods: We conducted a retrospective multicenter study in children with confirmed EoE and performed a chart review of patients prescribed dupilumab for EoE. Demographic information, symptoms, and medications including dupilumab treatment were collected. The endoscopic findings, histopathological features, and treatment results were analyzed. We calculated the change in EoE endoscopic reference scoring system (EREFS) scores from the baseline to 3 months.

Results: Eleven patients were included in this study. The study population comprised seven boys (64%) and four girls (36%). The median age at presentation was 11.6 years (8-13 years). Dupilumab at a dose of 200-300 mg was administered to all patients as second-line therapy for children with EoE refractory to conventional therapy (proton pump inhibitors, corticosteroids, and dietary restrictions). Dupilumab efficacy regarding symptom relief, and endoscopic and histological improvements was 82%, 73%, and 90%, respectively. The mean EoE endoscopic reference scoring system scores changed from a baseline of 6.9 (before dupilumab) to 0.3 (after dupilumab). In addition to the improvement in EoE, the use of corticosteroids in EoE and inhaled corticosteroids in asthma was decreased for all patients, suggesting that dupilumab may be effective in patients with multiple concurrent atopic conditions. Dupilumab had a well-tolerated safety profile, except for one patient who developed conjunctivitis.

Conclusion: This pediatric study demonstrates the effectiveness of dupilumab as a second-line therapy for symptom relief, and endoscopic and histological improvements of EoE that is refractory to current treatment. A longitudinal, large prospective study is necessary to guide the initiation of dupilumab treatment for childhood EoE, and long-term follow-up data on dupilumab are required.

Clinical trial number: Not applicable.

Background: The global decline in physical activity (PA) among the youth has been exacerbated by the pandemic's impact on their lifestyles. Addressing these adverse effects post-pandemic by supporting preferred physical activities among young individuals is crucial. The aim of the study is to investigate and compare the long-term trends in PA preferences among individuals in Poland and the Czech Republic, exploring the impact of global lifestyle challenges over the past 14 years, including the pandemic, on PA behaviors and choices.

Methods: The study design is cross-sectional and data gathering was in the period between 2007 and 2020, this research encompassed 19,235 participants aged 15 to 26. PA preferences were gauged using the Questionnaire on Physical Activity Preferences, while actual PA levels were measured through the International Physical Activity Questionnaire-Long Form. Crossing table, Kruskal-Wallis ANOVA, binary logistic regression and effect size coefficients were conducted.

Results: Among the participants, individual physical activities were favoured by 24% of Czech and 25% of Polish boys, and 23% of Czech and 25% of Polish girls. A positive correlation was found between the preference for running and higher levels of recreational, vigorous, and overall weekly PA. Additionally, an increased preference for running was associated with a higher likelihood of meeting weekly PA recommendations for both girls (OR = 1.82, CI = 1.62-2.04, p < 0.001) and boys (OR = 1.61, CI = 1.44-1.82, p < 0.001) in both countries.

Conclusions: Over a 14-year period, swimming, cycling, and running emerged as the most preferred PA across both Czech and Polish youth, with a notable increase in running, especially among Czech boys. Polish boys and girls also showed a growing preference for running, while Polish girls demonstrated a notable increase in badminton and ice-skating. The preference for running was associated with a higher likelihood of meeting PA recommendations, especially among Polish boys and Czech girls. Notably, activities like running, swimming, and cycling exhibited resilience to both pandemic-related restrictions and broader global lifestyle challenges, underscoring the importance of long-term monitoring of PA preferences for effective health promotion.

Objective: To assess the lactate/albumin ratio (L/A) as a prognostic biomarker for differentiating in-hospital mortality risk in pediatric patients with necrotizing enterocolitis (NEC).

Methods: We performed a retrospective study utilizing the Pediatric Intensive Care (PIC) database. Patients diagnosed with NEC were categorized into a discharge group and a death group based on in-hospital outcomes. The association between L/A and in-hospital mortality was assessed using logistic regression models.

Results: After inclusion and exclusion criteria, 100 NEC patients were included in the study, with 87 survivors and 13 deaths. The mean age at admission was 21.6 ± 2.4 days, and the mean weight was 2.1 ± 0.1 kg. Significant differences in creatinine, international normalized ratio (INR) and L/A were observed between the groups (p < 0.05). The L/A ratio was a substantial predictor of in-hospital mortality, with an odds ratio (OR) of 5.24 (95% CI: 1.51-18.20, p = 0.01). An L/A cutoff value of 0.56 demonstrated a sensitivity of 0.923 and specificity of 0.486, with an AUC of 0.725 from the ROC curve analysis. Patients with an L/A ratio of ≥ 0.56 had a higher risk of in-hospital mortality (OR = 11.35, 95% CI: 1.40-91.93, p = 0.02).

Conclusion: Our study suggested that the L/A ratio may serve as a reliable prognostic indicator for in-hospital mortality in NEC. However, given the limitations of our research, more prospective studies are still needed in the future to test the predictive value of L/A ratio for the prognosis of NEC disease.

Clinical trial number: Not applicable.

Introduction: Kawasaki disease (KD) is a rare systemic inflammatory disease that primarily affects children under the age of five. It is now recognized as the most prevalent cause of acquired heart diseases in children in developed countries.

Objectives: The aim of this study was to evaluate sleep disturbances in patients with KD and identify their prevalence and associations.

Methods: This cross-sectional analytic survey-based study was carried out on 262 participants (130 KD patients and 132 age- and sex-matched healthy controls). Participants were invited via social media groups. Sociodemographic data, clinical characteristics and therapeutic data of KD patients were collected. To identify the presence of sleep disturbances, all participants completed Children's Sleep Habits Questionnaire (CSHQ).

Results: The median age for KD patients was 6 years, and 51.5% of them were female, the median age at disease onset was 2.5 years, and the median disease duration was 3 years. The sleep scores of patients with KD were significantly higher than those of the control group (55.72 ± 11.97 vs. 49.45 ± 8.54, p < 0.001). The total duration of sleep did not exhibit any statistically significant difference between patients with KD and healthy controls (p = 0.399). KD patients exhibited significantly elevated scores in sleep onset delay, sleep duration, night wakings, parasomnias, and sleep-disordered breathing (p < 0.001). Additionally, they showed marginally higher scores in daytime sleepiness (p = 0.059). Younger age of KD patients was associated with higher rates of bedtime resistance (p < 0.001) and sleep anxiety (p = 0.005). Younger age at KD onset was associated significantly with higher rates of bedtime resistance (p = 0.009), sleep anxiety (p = 0.038), night wakings (p = 0.017), and worse sleep quality (p = 0.033). KD Patients who exhibited lethargy, and received corticosteroid medication had significantly higher sleep scores than those who did not.

Conclusion: Patients with KD experience higher sleep disturbance than their healthy counterparts. Young age, early disease onset, lethargy and corticosteroid administration are linked to poor sleep quality.

Background: Insulin autoimmune syndrome (IAS), characterized by endogenous hypoglycemia associated with insulin autoantibodies, is a rare cause of hypoglycemia in pediatric patients. Here, we report a case of the youngest patient with IAS in China, and summarize the clinical characteristics of the disease through a narrow review of pediatric cases.

Case presentation: A 3-year-10-month-old Chinese boy presented with unconsciousness. Initially, he was misdiagnosed with hyperinsulinemic hypoglycemia (HH) due to non-ketotic hypoglycemia. Whole exome sequencing (WES) was negative, and no pancreatic space-occupying lesions were identified. He continued to have intermittent episodes of symptomatic hypoglycemia. During an extended oral glucose tolerance test (OGTT), his insulin to C-peptide molar ratio was greater than 1, and anti-insulin antibodies (IAAs) measurements were as high as 54.38 COI (normal range 0-1 COI). High-resolution human leukocyte antigen (HLA) test showed a DRB1*08:03/*12:02 genotype. He was eventually diagnosed with IAS. Hypoglycemic episodes were not observed as long as the patient adhered to the low and frequent carbohydrate diet. Six months later, the patient's anti-insulin antibody had decreased to 10.17 COI, and mildly symptomatic hypoglycemia occasionally occurred in the case of noncompliance with the diet. Based on 11 studies from a literature review and our own case, a total of 12 pediatric patients were analyzed. Most of these patients presented with unconsciousness initially and their episodes of hypoglycemia do not follow a definitive pattern. Adjustments in diet serve as an effective intervention, and spontaneous remission is relatively common.

Conclusion: When differentiating the causes of HH in pediatric patients, IAS should not be overlooked. Elevated levels of IAAs and an inappropriate insulin to C-peptide molar ratio during an extended OGTT are critical indicators.

Clinical trial number: Not applicable.

Objective: To assess whether specific parent media practices are associated with the consumption of R-rated (restricted) movies and mature-rated video game use in early adolescents.

Methods: Data from the Adolescent Brain Cognitive Development (ABCD) Study (N = 10,054, 12-13 years, Year 3, 2019-2021) were analyzed. Ordinal logistic regression models were used to assess associations among media parenting practices and R-rated movies or mature-rated video game use, adjusting for potential confounders.

Results: Parental allowance of bedroom screen use (adjusted odds ratio [AOR] 1.44, 95% confidence interval [CI] 1.36-1.53), family mealtime screen use (AOR 1.19, 95% CI 1.13-1.25), and parent screen use (AOR 1.11, 95% CI 1.03-1.20) were positively associated with watching R-rated movies. Parental allowance of bedroom screen use (AOR 1.44, 95% CI 1.36-1.52), family mealtime screen use (AOR 1.26, 95% CI 1.19-1.32), and parent screen use (AOR 1.11, 95% CI 1.02-1.20) were positively associated with playing mature-rated video games. Greater parental monitoring and limiting of screen time were negatively associated with watching R-rated movies (AOR 0.81, 95% CI 0.77-0.85 and AOR 0.73, 95% CI 0.68-0.79 respectively) and playing mature-rated video games (AOR 0.81, 95% CI 0.77-0.86 and AOR 0.72, 95% CI 0.67-0.77). Restricting screen time as a punishment for misbehavior was linked to a higher odds of watching R-rated movies (AOR 1.06, 95% CI 1.01-1.11) and playing mature-rated video games (AOR 1.12, 95% CI 1.07-1.17) while offering screen time to reward for good behavior was negatively associated with watching R-rated movies (AOR 0.95, 95% CI 0.90-0.99).

Conclusions: Media parenting practices such as monitoring or limiting screen use are significantly associated with playing mature-rated video games and watching R-rated movies. Punitive measures, such as restricting screen time as a punishment are slightly associated with increased engagement with such content. These findings highlight the importance of intentional and thoughtful parental strategies in managing children's media consumption effectively.

Introduction: Escherichia coli (E. coli) causes infections in neonates admitted to neonatal intensive care units (NICUs). Although β-lactam antibiotics are commonly used for neonatal infectious diseases, E. coli has exhibited resistance to them. Therefore, we investigated the resistance of E. coli strains isolated from a NICU to β-lactam antibiotics.

Methods: E. coli isolates were collected from patients admitted to a NICU from 2020-2023. The clinical characteristics of the patients were analyzed. The antimicrobial susceptibility was determined using the agar dilution method, and the distribution of β-lactamase genes was analyzed using PCR. Conjugation experiments were conducted to analyze the horizontal transferability of resistance genes on plasmids. Genomic DNA was extracted for whole genome sequencing, construction of plasmid physical maps, locating resistance genes, and analyzing flanking regions and the resistance gene-related sequences.

Results: Throughout the study period, 110 distinct E. coli strains were collected. Among these, 62 cases presented strains, which were resistant against at least one of seven ß-lactam antibiotics associated with conditions such as ventilator-associated pneumonia (35/62), catheter-associated urinary tract infection (14/62), necrotizing enterocolitis (7/62), skin infection (1/62), and neonatal septicemia (5/62). Resistance of E. coli isolates to seven β-lactam antibiotics ranged from 2.73-56.36%. In 62 strains (56.36%, 62/110), six genotypes (11 sub-genotypes) of 111 β-lactamase genes were identified. Conjugation experiments revealed two transconjugants carrying the bla_KPC-2 gene and two carrying the bla_OXA-1 gene, exhibiting resistance to carbapenems and other β-lactams. The plasmids of four strains were successfully conjugated and transferred to recipient E. coli C600. PCR of the transconjugant resistance genes revealed that two carried a bla_KPC-2 gene with a MIC increased up to 32-fold relative to the recipients, and the other two carried a bla_OXA-1 gene with a 32-fold increased MIC. For isolate ECK03 carrying bla_KPC-2, bla_CTX-M-64, bla_CTX-M-65, and bla_TEM-1, sequencing results showed that bla_KPC-2, bla_CTX-M-64, and bla_TEM-1 were harbored on a 114-kb pECK03_KPC-2 plasmid, whereas two identical bla_CTX-M-64 genes were harbored in E. coli isolate ECF13.  CONCLUSION: These findings highlight the existence of E. coli β-lactam resistance within NICU populations, emphasizing the need for continual monitoring of β-lactamase isolates to facilitate effective antibiotic selection.

Background: Steroid resistant nephrotic syndrome (SRNS) is a clinical phenotype of nephrotic syndrome (NS) that does not respond to steroid therapy and usually results in kidney failure. The aim of this study was to determine whether children with SRNS have subclinical left ventricular systolic dysfunction and, if so, to identify the risk factors for myocardial involvement in those children.

Methods: This prospective case-control study included of 35 children with SRNS, 40 children in the healthy control group, and 40 children with NS during the initial episode as the diseased control group. Conventional echocardiography, tissue Doppler imaging (TDI), and speckle tracking echocardiography (STE) were performed on all the studied children.

Results: No statistically significant difference in conventional echocardiography's parameters were detected between the patient and control groups. TDI revealed that the E/E' ratio was significantly greater in the SRNS group than in both the healthy and diseased control groups (P = 0.001). The left ventricle global longitudinal strain (LV GLS) was markedly lower in children with SRNS than in healthy controls and NS patients (the diseased controls) (P = 0.001). Multiple binary regression analysis for the predictors of systolic dysfunction in SRNS patients revealed that the serum albumin is the only variable that predicts systolic dysfunction in these children.

Conclusions: Subclinical systolic and diastolic LV dysfunction should be screened in NS especially SRNS children.