World Journal of Pediatrics最新文献

Background: Treating pediatric acute myeloid leukemia (AML) with NUP98 rearrangement (NUP98-R) is challenging. Standard chemotherapy results in low remission rates. This study aimed to evaluate different induction regimens and explore alternative therapies to improve outcomes.

Methods: This retrospective study included 111 pediatric patients with AML treated at our institution from March 2012 to March 2023. Patients were classified into two groups: NUP98-R-positive (n = 10) and NUP98-R-negative (n = 101). We compared their clinical characteristics, treatment responses, and prognoses. Additionally, we presented three cases of NUP98-R-positive patients to elaborate on the role of targeted therapies during induction in treatment outcomes and prognosis.

Results: Patients with NUP98-R fusion genes had a complete remission (CR) rate of 20% after the first induction, which was significantly lower than the 64.3% reported in those without NUP98-R fusion genes (P < 0.05). The 3-year event-free survival (EFS) rate was also lower, with only 30% for NUP98-R patients and 55.3% for non-NUP98-R patients (P < 0.05). The prognosis of NUP98-R patients improved with targeted therapies during induction. For example, Patient 1 achieved CR with FLT3 and BCL-2 inhibitors plus conventional chemotherapy. Patient 2, who was treated with a CDK6 inhibitor, a BCL-2 inhibitor, azacitidine, and an FLT3 inhibitor, also achieved CR and underwent successful stem cell transplantation. Conversely, Patient 3, who received only standard chemotherapy, did not achieve remission and died from a severe infection.

Conclusions: This study demonstrated that using targeted drugs for the induction in NUP98-R pediatric AML improved treatment outcomes. BCL-2, FLT3, and CDK6 inhibitors available at our institution are promising options for this phase of treatment.

Background: Mitochondria plays a pivotal role in cellular energy production, and their dysfunction can lead to a spectrum of mitochondrial diseases, affecting various organs with a wide range of clinical symptoms. Among these, short stature is a notable manifestation, yet its pathogenesis related to mitochondrial dysfunction remains underexplored.

Data sources: A comprehensive literature search was conducted in the PubMed, Medline, and EMBASE databases from inception to November 2024. Patient demographics, genetic confirmation type, clinical features associated with short stature or growth abnormalities, and any interventions or treatments alongside treatment outcomes were extracted.

Results: Our article provides a comprehensive review of the clinical manifestations and delves into the molecular mechanisms of mitochondrial dysfunction that are associated with short stature. A total of 134 genetically confirmed cases with primary mitochondrial disease (PMD) associated with short stature with mtDNA (e.g., m.3243A>G, large-scale deletions) and nDNA mutations (e.g., NDUFB3, SURF1). Median age at short stature detection was 8 years, with 40% presenting earlier. Growth hormone deficiency (GHD) occurred in 15% of cases, showing variable responses to therapy. Pathogenesis involves mitochondrial dysfunction, growth plate impairment, and endocrine disorders. Early diagnosis relies on timely genetic testing. Management of PMD includes tailored dietary strategies, supplementation, and cautious GH therapy due to potential risks. Emerging gene therapy and multidisciplinary care are emphasized to address disease complexity and optimize outcomes.

Conclusions: Previous reviews have described the endocrine aspects of mitochondrial diseases. Although the list of endocrine diseases is comprehensive, it is not specific for short stature. This review focuses on short stature, and it is more specific than previous reviews in terms of etiology, pathogenesis, diagnosis, treatment, and prospects.

Background: Developmental delay (DD) poses challenges to children's overall development, necessitating early detection and intervention. Existing screening tools in China focus mainly on children with developmental issues in two or more domains, diagnosed as global developmental delay (GDD). However, the recent rise of early childhood development (ECD) concepts has expanded the focus to include not only those with severe brain development impairments but also children who lag in specific domains due to various social-environmental factors, with the aim of promoting positive development through active intervention. To support this approach, corresponding screening tools need to be developed.

Methods: The current study used a two-phase design to develop and validate the Parent-Reported Indicator of Developmental Evaluation for Chinese Children (PRIDE) tool. In Phase 1, age-specific milestone forms for PRIDE were created through a survey conducted in urban and rural primary care clinics across four economic regions in China. In Phase 2, PRIDE was validated in a community-based sample. Sensitivity and specificity of both PRIDE and Ages and Stages Questionnaires (ASQ)-3 were estimated using inverse probability weights (IPW) and multiple imputation (MI) to address planned and unplanned missing data.

Results: In Phase 1 involving a total of 1160 participants aged 1 to 48 months, 63 items were selected from the initial item pool to create 10 age-specific PRIDE forms. Our Phase 2 study included 777 children within the same age range. PRIDE demonstrated an estimated sensitivity and specificity of 83.3% [95% confidence interval (CI): 56.8%-100.0%] and 84.9% (95% CI: 82.8%-86.9%) in the identification of DD.

Conclusion: The findings suggest that PRIDE holds promise as a sensitive tool for detecting DD in community settings.

Background: The survival of children and adolescents with complex chronic conditions (CCCs) and/or life-limiting or life-threatening conditions (LLCs) is increasing, while estimating their prevalence is complex and limited. This study aims to describe the prevalence of CCCs and/or LLC in children and adolescents and their profile in a European public health system.

Methods: This was a descriptive cross-sectional study of the whole pediatric population (< 19 years) registered in the Basque Public Health System (BPHS) in May 2022. Sociodemographic data and active diagnoses were extracted from the electronic medical records. The Pediatric Medical Complexity Algorithm v3.2 was used to identify children and adolescents with CCC and the Hain Directory of Life-Limiting Conditions, modified ad hoc for patients with LLC.

Results: A total of 377,349 children and adolescents were detected in the BPHS. The prevalence of children and adolescents with CCC was 681 per 10,000. It was higher in males and increased progressively with age. The most affected systems were neurological (39.9%), respiratory (37.2%), mental health (28.1%), musculoskeletal (20.7%) and metabolic (19.7%) systems. The prevalence of children and adolescents with LLC was 90.7 per 10,000. It was the highest in children under one year of age and was slightly higher among males. The most common conditions were congenital malformations and chromosomal anomalies (37.7%), oncological (18.3%), neurological (16.1%) and metabolic diseases (6.5%). Among children and adolescents with LLC, 72% also had CCC. The prevalence of LCC and/or CCC was greater in children and adolescent patients with lower socioeconomic status.

Conclusions: The prevalence of CCC and/or LLC in children with BPHS was high. A considerable proportion of children with LLC also met the criteria for CCC. These findings may help allocate available healthcare resources equitably and efficiently to provide comprehensive care for patients and their families.