World journal of clinical pediatrics最新文献

Background: Congenital hypothyroidism (CH) is a prevalent childhood endocrine disorder associated with irreversible neurological consequences. Its global incidence is on the rise.

Aim: To estimate CH incidence in Jordan and assess the potential utility of incorporating (fT4) measurements into the screening process.

Methods: This retrospective analysis examined thyroid function test results for infants born at our center between 2016 and 2020. Infants born before 28 weeks and those screened after 14 days of life were excluded. Screening occurred between days 3 and 7 of life, and thyroid-stimulating hormone (TSH) and T4 levels were measured concurrently from peripheral venipuncture blood samples. A TSH cutoff of < 5 mIU/L was considered normal. Values between 5 and 20 mIU/L were equivocal, requiring repeat tests. TSH levels exceeding 20 mIU/L were considered critical.

Results: A total of 10521 infants were included in the study, and 26 were diagnosed with CH, yielding an incidence of 1 in 400 live births. Females constituted 57.7% of CH cases. All CH cases had initial TSH values exceeding 5.0 mIU/L, with clustering above 20 mIU/L. Six CH infants had Down syndrome, accounting for 23.1% of CH cases.

Conclusion: Our study revealed a high incidence of CH in Jordan, marking a significant increase from previously reported rates. We recommend a national study to investigate risk factors and underlying causes of CH in our population. Furthermore, we advocate for the use of TSH alone with a cutoff value of < 5 mIU/L for screening purposes.

Background: Transition is a critical period for adolescents as they begin to assume responsibility for their own health. Similarly, the shift from pediatric to adult healthcare represents a vulnerable phase, marked by unique challenges in adolescent health care. Despite its importance, only a few studies have explored healthcare transition among adolescents in Uganda.

Aim: To identify factors associated with the transition to adult human immunodeficiency virus (HIV)-centered care among adolescents attending HIV/AIDS clinics in Uganda.

Methods: A cross-sectional mixed-methods study was conducted among 265 adolescents, randomly selected from three antiretroviral therapy (ART) clinics, using a structured questionnaire. Focus group discussions and key informant interviews were conducted. Individuals aged 10-20 years who were actively enrolled in the ART program between January 4, 2022 and January 30, 2023 were recruited. The primary outcome of interest was the transition to adult care. Bivariate and multivariate analyses were performed for quantitative data, while content analysis was used to analyze qualitative data.

Results: The prevalence of transition to adult care was 40.6%. Most participants were male (53.6%) and fell within the 13-15 age group (35.6%). Multivariate logistic regression analysis identified several factors significantly associated with transition to adult care: Age group 10-12 years [prevalence ratio (PR) = 2.525, 95%CI: 2.121-2.944, P = 0.002], Age group 13-15 years (PR = 1.900, 95%CI: 1.196-3.416, P = 0.001), successful viral load suppression (PR = 1.534, 95%CI: 1.173-1.648, P = 0.016), disclosure of HIV status to relatives (PR = 5.001, 95%CI: 3.411-3.611, P = 0.000), being prepared for transitioning (PR = 5.417, 95%CI: 3.468-7.135, P = 0.041) and having skilled pediatric caregivers (PR = 3.724, 95%CI: 2.084-4.105, P = 0.005).

Conclusion: Transition to adult care among adolescents was low. Improving transition outcomes may require strengthening individual support within the family context and integrating transition-focused care into existing specialized clinical settings to enhance the delivery of adolescent-friendly services.

Vitamin D, beyond its classical role in calcium homeostasis, has emerged as a key regulator of immune function and epithelial barrier integrity. Its deficiency during early childhood-a critical period for immune maturation-has been increasingly implicated in the development of atopic diseases. While extensively studied in asthma, its role in non-respiratory allergic conditions such as atopic dermatitis (AD) and allergic rhinitis (AR) remains comparatively underexplored. This minireview synthesizes current mechanistic and clinical evidence on vitamin D in pediatric AD and AR. In AD, vitamin D promotes epidermal barrier function through upregulation of filaggrin and ceramide synthesis, and enhances antimicrobial defense via induction of antimicrobial peptides. Observational studies consistently report lower serum 25-hydroxyvitamin D in affected children, particularly those with allergic sensitization. Select randomized controlled trials suggest clinical improvement with supplementation, especially at doses > 2000 IU/day in deficient individuals. In AR, epidemiological data indicate stronger inverse associations with seasonal (pollen-induced) disease. Proposed mechanisms include modulation of dendritic cells, regulatory T cells, T helper 2 cytokines, and mucosal barrier integrity. The shared immunopathogenesis of AD and AR underscores vitamin D's relevance. Although promising, clinical evidence remains heterogeneous. Future research should prioritize phenotype-stratified trials to clarify optimal dosing, timing, and individual response determinants, including genetics and microbiome composition.

The significance of gut microbiota (GM) in human health is being increasingly researched. An imbalance in GM composition, known as dysbiosis, is linked to various and other health issues. In addition, antibiotics are the primary and most significant factors leading to major changes in the composition and function of the GM, which may result in colonization by antimicrobial-resistant (AMR) pathogens. Therefore, alternative antibiotic strategies for combating AMR pathogens are urgently needed. This narrative review highlights current knowledge regarding various pertinent strategies for decolonizing bacterial pathogens from GM and emphasizes decolonization therapies' critical role in pediatric surgical disorders. Strategies such as decontamination of the digestive tract utilizing antibiotics, the use of probiotics, and particularly fecal microbiota transplantation have introduced new options for clinical treatment. These treatments show the potential to restore GM balance and have demonstrated advantages for intestinal disorders related to pediatric surgery, including inflammatory bowel disease, neonatal necrotizing enterocolitis, Hirschsprung-associated enterocolitis, and short bowel syndrome. Despite GM therapeutics, recent strategies are still in their developmental phase and exhibit challenges that need further research. Thus, potential future directions for GM-targeted decolonization therapies are under consideration. Innovative alternative strategies to combat AMR though GM modulation in disorders related to pediatric surgery appear to be promising and should continue to be prioritized for further research and development.

Background: Roberts syndrome (RS) is a rare autosomal recessive cohesinopathy caused by biallelic mutations in ESCO2, essential for sister chromatid cohesion and genomic stability. Clinically, RS manifests as severe pre- and postnatal growth restriction, tetraphocomelia, craniofacial anomalies, and variable visceral organ malformations. Prenatal suspicion is often raised by ultrasonographic evidence of limb reduction and fetal hypotrophy. However, diagnosis remains elusive without molecular confirmation. This case underscores the diagnostic and prognostic value of next-generation sequencing in suspected RS, particularly within consanguineous populations where autosomal recessive conditions are more prevalent.

Case summary: A four-month-old male infant, born to consanguineous parents, was referred for evaluation of multiple congenital anomalies. Prenatal ultrasonography demonstrated significant intrauterine growth restriction, bilateral upper limb absence of radius and ulna at 22 weeks, and unilateral renal pelvis dilation at 38 weeks. Postnatal findings included bilateral phocomelia, thumb aplasia, and flexion contractures at the elbows and knees. Physical examination revealed features consistent with cohesinopathy. Whole exome sequencing identified a homozygous pathogenic variant in ESCO2, confirming RS. Multisystemic involvement warranted early multidisciplinary coordination and genetic counseling for recurrence risk.

Conclusion: This case supports redefining isolated limb anomalies as early indicators warranting targeted prenatal genetic screening for cohesinopathies like RS.

Dual-energy CT (DECT) is an advancement in CT technology that allows for the acquisition of images at two different energy levels. Two main post-processing tools, which form the backbone of DECT, include material decomposition and virtual monoenergetic images. Material decomposition helps in the generation of virtual nonenhanced, iodine, pulmonary lung blood volume, lung vessel, automated bone removal, and renal stone characterization images. DECT offers a broad spectrum of clinical applications in pediatric imaging, including vascular, neurological, thoracic, abdominal, skeletal, and oncologic assessments. Additionally, it contributes to shorter scan times and enables the use of lower contrast media volumes while maintaining diagnostic image quality. This technique provides unique qualitative and quantitative information about the composition of the tissue, allowing differentiation of materials, including iodinated contrast agents. The radiation dose of DECT is equivalent to or lower than that of a single-energy CT, adding to the advantages of DECT, especially in children who are more sensitive to the harmful effects of radiation. In this minireview we outlined the basic principles of the DECT technique and its post-processing techniques with emphasis on clinical applications in pediatric imaging.

Gestational diabetes mellitus (GDM) is a metabolic condition caused by chronic insulin resistance during pregnancy, affecting millions of women globally and causing significant health concerns. Its consequences are far-reaching, associated with poor feto-maternal outcomes. GDM has serious implications on metabolic health in both mother and child. Early diagnosis and management of GDM are crucial to prevent related consequences. Traditional diagnostic and predictive biomarkers for GDM, including oral glucose tolerance test, adiponectin, resistin, etc., have limitations. Recent advances in research have identified novel biomarkers for GDM, offering promising alternatives for early diagnosis and prediction to prevent the associated adverse pediatric outcomes. Emerging biomarkers include microRNAs, cell-free DNA, exosomes, glycolytic intermediates, inflammatory biomarkers (C-reactive protein and interleukin-6), metabolic biomarkers (Betatrophin, fetuin-A, etc.), etc. Emerging bidirectional communication pathway (gut microbiota gut-brain-axis) plays a crucial role in GDM pathophysiology, and could be a promising biomarker. Emerging technologies such as next-generation sequencing, metabolomics, and proteomics have enabled the discovery of novel biomarkers for GDM and related pediatric outcomes. This review aims to summarize the current state of knowledge on emerging biomarkers for GDM, including their diagnostic accuracy, predictive value, and potential clinical applications to improve feto-maternal outcomes by personalized medicine approaches.

Background: Mycoplasma pneumoniae (M. pneumoniae) is considered to be one of the causative agents of community acquired pneumonia in children with general or severe course of disease. Severe M. pneumoniae pneumonia (SMPP) has emerged as a crucial global health concern due to high mortality rate in children under 5 years, potentially life-threatening complications, and growing challenges in pediatric treatment associated with rising macrolide resistance. Additionally, MPP can be complicated by other bacterial and/or viral pathogens, which may exacerbate disease severity. After the lifting of strict non-pharmaceutical interventions (NPIs) worldwide, the dramatic rise of incidence of MPP in Asia and Europe was observed.

Aim: To perform the comprehensive study of community acquired MPP cases registered in 2023 in Baoding Hospital, China.

Methods: A total of 1160 children from 1 month to 15 years old with confirmed MPP diagnosis were enrolled in the study. The blood and respiratory samples were collected within the 24 hours after admission. The hematological parameters, biochemical markers, cytokine profiles were assessed. The respiratory samples were tested for the presence of M. pneumoniae and other 23 bacterial/viral pathogens by multiplex polymerase chain reaction (PCR). The macrolide resistance mutations (A2063G, A2064G in the 23S rRNA gene of M. pneumoniae) were determined by PCR.

Results: Number of MPP cases has dramatically increased starting August with peak in November. SMPP and general MPP (GMPP) were identified in 264 and 896 of 1160 hospitalized children. The binary logistic regression analysis identified six [C-reactive protein (CRP), lactate dehydrogenase, procalcitonin, erythrocyte sedimentation rate, fibrin and fibrinogen degradation products (FDPs), D-dimer] and four (neutrophils, CRP, FDPs, prothrombin time) predictors of SMPP in age groups 2-5 years and 6-15 years, respectively. Children with SMPP showed significantly higher levels of cytokine interleukin (IL)-17F (2-5 years), and cytokines interferon-gamma, tumor necrosis factor-alpha, IL-10 (6-13 years). Concomitant viral/bacterial pathogens were determined in 24.3% and 28.0% cases of SMPP and GMPP. Among them, Streptococcus pneumoniae (S. pneumoniae) and Haemophilus influenzae (H. influenzae) were predominant. 93.2% cases of MPP were associated with macrolide resistant M. pneumoniae.

Conclusion: Specific MPP epidemiological pattern associated with lifting NPIs was revealed: Increase of hospitalized cases, prevalence of S. pneumoniae and H. influenzae among concomitant pathogens, 93.2% of macrolide resistant M. pneumonia.

Neonatal and pediatric sepsis remains a major global health concern, contributing significantly to morbidity and mortality among children under 5 years of age. The clinical and microbiological characteristics of sepsis differ markedly in neonates and children, necessitating tailored diagnostic and treatment approaches. This mini-review explores the evolving microbiological landscape, recent advancements in diagnostic methodologies, and challenges posed by antimicrobial resistance (AMR) in managing neonatal and pediatric sepsis. Emerging pathogens, including multidrug-resistant Gram-negative bacilli and fungal organisms, are reshaping the epidemiology of sepsis. Innovations in molecular diagnostics, including polymerase chain reaction-based platforms, next-generation sequencing, and artificial intelligence-integrated tools, are revolutionizing early pathogen detection and resistance profiling. However, implementation gaps persist, particularly in low- and middle-income countries. Therapeutic challenges are compounded by limited pediatric data on newer antimicrobials and rising AMR rates. Infection prevention strategies, especially in intensive care units, are crucial to outbreak containment. An integrated approach combining microbiological surveillance, rapid diagnostics, and antimicrobial stewardship is critical for improving sepsis outcomes. Future research should focus on context-specific implementation of diagnostic tools and optimizing treatment strategies for resource-limited settings.

Background: Children with juvenile idiopathic arthritis (JIA) and inflammatory bowel disease (IBD) face an elevated risk of severe infection owing to their diseases and the immunosuppressive treatment for disease control.

Aim: To compare scheduled vaccination coverage and the levels of post-vaccine antibodies against measles, mumps, rubella (MMR) and hepatitis B in pediatric patients with IBD and JIA.

Methods: A comparative cohort study included 97 patients with IBD and 170 patients with JIA. Vaccination history was obtained from medical records, while post-vaccination immunity was assessed prospectively by measuring specific IgG antibody titers using enzyme-linked immunosorbent assays (Vector-Best JSC, Russia; IBL International, Germany) during routine visits between January 2022 and April 2023.

Results: A complete two-dose MMR course had been administered to 66.3% of IBD patients and 55.9% of JIA patients (P = 0.121). By contrast, the three-dose hepatitis B schedule was completed in 74.2 % of IBD and 100 % of JIA patients (P < 0.001). Protective level of anti-vaccine antibodies against measles (47.7% vs 57.7%; P = 0.168); mumps (75.3% vs 80.0%; P = 0.366); rubella (74.4% vs 98.2%; P < 0.0001); and hepatitis B (44.8% vs 50.0%; P = 0.514) were detected in IBD and JIA patients, respectively.

Conclusion: Patients with IBD and JIA demonstrated different vaccination coverage patterns and levels of anti-vaccine antibodies. Routine baseline serology and timely booster vaccination should be implemented for all pediatric patients receiving chronic immunosuppression.