Pediatrics and Neonatology最新文献

Background: Infants with comorbidities and critical illnesses often exhibit symptoms resembling extra-esophageal reflux episodes, posing a challenge to differentiate from exacerbated underlying conditions. This study aimed to evaluate characteristics of equivocal gastroesophageal reflux (GER)-like symptoms using 24-h esophageal multichannel intraluminal impedance-pH (MII-pH) monitoring in infants with comorbidities.

Methods: This retrospective study enrolled 79 infants, who were all less than 1 year of age and received 24-h MII-pH monitoring. Abnormal result was defined as reflux index >10 %, total reflux episodes >100 times, and more than 44 acidic GER episodes or 57 non-acid ones.

Results: Among the infants, 64.6 % required intensive care, 41.8 % were under positive pressure ventilation and 73.4 % were fed with feeding tube. Approximately 70 percent of babies presented with extra-esophageal symptoms. Common comorbidities were as follows: prematurity (65.8 %), laryngomalacia (46.5 %), neurological impairment (40.5 %), and bronchopulmonary dysplasia (38.0 %). Abnormal results of MII-pH monitoring were observed in 39.2 % subjects, which were significantly higher in infants with esophageal symptoms, and characterized by higher total reflux as well as acidic reflux episodes. There were markedly lower weakly acidic reflux episodes in infants with neurological impairment and higher proximal reflux episodes in infants with laryngomalacia.

Conclusion: Despite higher prevalence of extra-esophageal presentations among all infants with comorbidities, abnormal rates of 24-h esophageal MII-pH monitoring were significantly lower compared with those of infants with esophageal presentations. Routine use of proton-pump inhibitor is not warranted for non-esophageal symptoms in high-risk infants with undocumented gastroesophageal reflux disease.

Objective: To report a novel VPS13B variant and to describe the prevalence of neutropenia and immunological clinical features in patients with Cohen syndrome (CS).

Study design: We conducted a comprehensive search focusing on CS and neutropenia using PubMed, Embase, Google Scholar and the Human Gene Mutation Database. The key words were "Cohen syndrome" AND "neutropenia," "VPS13B″ AND "neutropenia," "COH1" AND "neutropenia." Inclusion criteria required articles to be in English, to report a confirmed VPS13B variant (or the previously named COH1) and to provide information on clinical phenotypes.

Results: The literature review identified 54 reports that met the inclusion criteria. The majority of CS patients (226/293; 77.1 %) presented with neutropenia, with notable differences according to ethnicity. Caucasians had reduced neutrophil levels in 90.6 % of cases, whereas Arabs and Asians had reduced neutrophil levels in only 58.7 % and 47.1 % of cases, respectively. There was no clear genotype-phenotype correlation with regard to neutropenia. Although few serious infections were reported, oral mucosal involvement and its sequelae were common. Dysimmune phenomena were observed in seven cases. We also report the case of a seven-year-old Italian child with a novel compound heterozygosity in the VPS13B gene who was previously diagnosed with isolated autoimmune neutropenia.

Conclusions: Clinical, ethnic and immunological data suggest that neutropenia in CS may be part of a complex immune dysregulation. Further immunological studies may help in the early diagnosis and treatment of autoimmune and mucosal involvement to prevent potential complications.

Background: Turner syndrome (TS) is the most common sex chromosome aneuploidy and is associated with various comorbidities. Using data from the National Health Screening Program for Infants and Children (NHSPIC), we aimed to investigate the multisystem comorbidities and growth trajectories of patients with TS in South Korea.

Methods: A total of 1,647,140 female individuals born between 2007 and 2017 registered in the National Health Insurance Service were included in this study. Diagnoses of TS were based on the World Health Organization's International Classification of Diseases, Tenth Revision (ICD-10). Multisystem comorbidities were categorized into cardiovascular, endocrine, neurologic, and neurosensory disorders. The risk of comorbidities was investigated using a Cox proportional-hazards regression analysis. Each individual was observed until 2020.12.31. Growth measurements from 0 to 6 years were obtained from the NHSPIC and converted into Z-scores. Growth curves of children with TS from birth to age 6 were plotted using a locally estimated scatterplot smoothing function.

Results: Overall, 514 girls were diagnosed with TS. The incidence of TS was 1 per 3203 female live births over the observation period, with a median age at diagnosis of 7.6 years. Compared to the control group, the TS group had an elevated risk of various complications: congenital heart disease (CHD) (adjusted hazard ratio [aHR] 3.51; 95 % confidence interval [CI] 2.79-4.42), short stature (aHR 23.19; 95 % CI 20.99-25.61), and developmental delay (aHR 6.21; 95 % CI 4.65-8.29). Growth curves for girls with TS revealed growth impairments evident from birth.

Conclusion: Our nationwide study emphasizes the importance of early diagnosis by highlighting the risk of various early TS complications. Clinicians should recognize that TS may present with early growth deficiency and a broad spectrum of multisystem comorbidities, underscoring the importance of timely diagnosis and multidisciplinary management.

Background: Respiratory syncytial virus (RSV) is a major cause of infant hospitalizations, with limited prophylactic options historically available. Nirsevimab, a long-acting monoclonal antibody, has emerged as a promising agent for preventing RSV.

Objective: To evaluate the efficacy and safety of nirsevimab through a systematic review and meta-analysis of randomized controlled trials (RCTs) and investigate current global recommendations.

Methods: Databases, including PubMed, Embase, and Cochrane CENTRAL, were searched from inception to January 31, 2025. Eligible RCTs assessing nirsevimab efficacy in RSV prevention were included. Outcomes encompassed RSV-related hospitalization, severe infection, and adverse events. Meta-analysis employed random-effects models.

Results: Six RCTs (n = 12,086) were included. Nirsevimab significantly reduced RSV-related hospitalization (odds ratio [OR], 0.19; 95 % confidence interval [CI], 0.13-0.30) and severe RSV infection (OR, 0.23; 95 % CI, 0.12-0.44), with no increase in adverse events. Country-specific recommendations varied, ranging from seasonal to year-round strategies.

Conclusion: Nirsevimab exhibits excellent efficacy and safety in RSV prevention. Although most countries align administration with RSV seasonality, Taiwan distinctively endorses year-round prophylaxis. Customized immunization policies considering local epidemiology and seasonality may optimize protection and inform global RSV prevention strategies.

Background & aims: Biliary cirrhosis progression varies in biliary atresia (BA) patients after hepatoportoenterostomy. Previous studies have suggested that BA pathogenesis may be related to immune dysregulation. This study evaluates the relationship between cirrhosis severity and lymphocyte subtype distribution in patients with BA after undergoing hepatoportoenterostomy.

Methods: A total of 67 BA patients (29 males and 38 females, mean age: 10.1 years) with hepatoportoenterostomy were enrolled in this study. We assessed the liver stiffness measurement (LSM) by transient elastography, blood lymphocyte subtypes analysis, and serum cytokines. We analyzed the relationships between LSM and immune profiles.

Results: BA subjects with significant biliary cirrhosis (LSM ≥25 kPa) have higher fraction of CD3^-CD19⁺ B lymphocyte (p = 0.004) and lower fraction of CD3⁺CD8⁺ T lymphocyte, γδT lymphocyte and CD3^-CD16⁺CD56⁺ NK lymphocyte (p = 0.02, 0.01 and 0.001, respectively) than BA patients with LSM <25 kPa. BA subjects with LSM ≥25 kPa have lower Th1 lymphocytes among CD4⁺ T lymphocytes than others (p = 0.007). Among CD8⁺ T lymphocytes, higher Naïve cytotoxic T lymphocyte fraction and lower fraction of central memory cytotoxic T lymphocyte and effector memory cytotoxic T lymphocyte were observed in BA subjects with LSM ≥25 kPa (p = 0.005, 0.004, and 0.002, respectively). The LSM of BA subjects is positively correlated with serum interleukin-10 and interferon-γ (p = 0.03 and 0.046, respectively) CONCLUSIONS: Our study demonstrated that the progression of liver cirrhosis in BA patients after hepatoportoenterostomy is significantly correlated to the component and distribution of immune profiles.

Background: Bronchopulmonary dysplasia (BPD) significantly impacts neonatal care. Early risk identification is vital for clinical decisions. Jensen's updated BPD definition aims to predict health problems in young children, but the relationship between cumulative oxygen fractions (FiO2), mean airway pressure (MAP), and BPD severity is unclear.

Methods: This single-center, retrospective cohort study analyzed newborns with a birth weight under 1500 g. We calculated cumulative areas under the curve for hourly FiO2, MAP, and respiratory severity score (RSS) within 14 days post-birth. Logistic regression identified postnatal factors linked to outcomes: death after 14 days, BPD diagnosis, and severity. A multinomial model assessed the relationship between cumulative hourly FiO2, MAP, and RSS across different postnatal periods and BPD severity.

Results: Among 250 infants, 2.4 %, 44 %, and 4 % had grade I, II, and III BPD, respectively, with an overall mortality rate of 4.5 %. Cumulative MAP in the first week, second week, and all 14 days was associated with mortality. Cumulative RSS during these periods was significantly related to BPD development. Additionally, cumulative FiO2 and RSS during these times effectively differentiated BPD severity.

Conclusion: The ventilatory support and FiO₂ within 14 days after birth were associated with mortality and Jensen's definition of BPD.

Background: Childhood cancer survivors (CCSs) are at a high risk of developing chronic kidney disease (CKD) as a late effect. In this study, we aimed to analyze longitudinal trends in kidney function in CCSs shortly after cancer treatment and its long-term impact.

Methods: We conducted a single-center retrospective cohort study of children aged 0-18 years treated for cancer between January 2011 and December 2021. The patients were classified as renal insufficiency (RI) group or normal renal function group, depending on whether they maintained estimated glomerular filtration rate based on creatinine (eGFRcr) ≥ 90 mL/min/1.73 m² during follow-up. The RI group was subdivided into progressive RI group and transient RI group, depending on whether eGFRcr recovered to ≥90 mL/min/1.73 m² at the last follow-up.

Results: Of the 135 patients, 86 (64 %) were classified into the normal group and 49 (36 %) into the RI group (20 transient and 29 progressive RI). The normal and transient RI groups showed a significant increase in eGFRcr between the time of diagnosis and 1 year after diagnosis (annual percentage change: +16.4 % and +13.7 %, respectively), whereas the progressive RI group showed a decrease (-12.2 %). Over the 5-year follow-up period after diagnosis, the RI group showed significantly lower eGFRcr at all time points (P < 0.01), and both the progressive and transient RI groups maintained eGFRcr levels below those of the normal group.

Conclusion: Long-term decline in eGFRcr was observed even after recovery from temporary kidney injury, suggesting the importance of long-term follow-up of kidney function in CCSs.

Objectives: Despite the increasing recognition of the importance of neonatal lung ultrasound (LU) in the management of the unwell neonate, LU is not included in the UK neonatal curriculum. Here we describe the educational resource developed in our level 3 neonatal unit using Kern's six-step approach.

Study design: We initially mapped the interest in learning this skill through a questionnaire. Using Kern's six-step approach for curriculum development, we defined a multimodal training programme. At the end of the 6-month placement, a feedback questionnaire was sent to all trainees working in the unit.

Results: We confirmed a wide interest in learning LU skills among trainees at all levels of seniority. The training package included 1) face-to-face teaching; 2) a guideline outlining the main indications for LU, including pictorial depictions of normal lungs and common lung pathologies; 3) a video tutorial describing how to set up and use the ultrasound machine, and how to perform LU in practice; 4) a logbook to evidence practical skills acquisition. The end of placement questionnaire showed that 82 % of the trainees used the available LU curriculum, with 71 % using LU to guide decision-making under supervision.

Conclusions: Kern's six step approach is an effective method to guide the development of an educational curriculum. The strength of our training program lies in it is low cost, reproducibility and potential to be adapted to meet the needs of other neonatal units.

Neonatal sepsis is a leading cause of morbidity and mortality in Africa. This study aimed to examine neonatal sepsis treatment guidelines in Africa, compare them with WHO recommendations, identify similarities and deviations, and explore the impact of antimicrobial resistance and implementation challenges. A rapid systematic review was conducted following PRISMA-ScR guidelines. Five databases (Science Direct, PubMed, CINAHL, MEDLINE via Ovid, and Scopus) were systematically searched for studies published between 2014 and 2024 that reported national or regional guidelines on neonatal sepsis treatment. Data were extracted on first-line antibiotic selection, route of administration, treatment duration, supportive care measures, multidrug-resistant organisms and alignment with the WHO guidelines. The Newcastle-Ottawa Scale was used to assess the methodological quality of the included studies. Overall, 29 studies were included in the review. Key findings revealed that while ampicillin/gentamicin, a WHO-recommended first-line regimen, was widely adopted, high microbial resistance rates necessitated alternatives such as carbapenems. Gram-negative pathogens, particularly Klebsiella pneumoniae (up to 92 % prevalence) dominated, with multidrug-resistant organisms (MDRO) showing a pooled prevalence of 59 % (95 % CI: 44.4-73.6 %). Regional disparities were evident: Eastern Africa reported 51 % MDRO, while Southern Africa reported 20.3 % MDRO. The high statistical heterogeneity (I² = 99.4 %) in the meta-analysis indicates variation in MDRO prevalence across studies, and the pooled estimate should therefore be interpreted with caution. Common implementation challenges included limited access to second-line antibiotics, inadequate training of healthcare workers and infrastructural constraints. Significant variations existed between neonatal sepsis treatment guidelines in a number of African countries and the WHO recommendations. These were driven by MDRO and healthcare resource limitations. While the WHO guidelines provide a global framework, country-specific adaptations are also necessary. There is a need to strengthen antimicrobial stewardship programs, improve diagnostic capacity, and enhance the training of healthcare workers.