Translational pediatrics最新文献

Background: Schwannoma is a rare benign tumor of peripheral nerves, particularly in the bronchus. There are rarely reports on the treatment for airway stenosis caused by schwannoma. Currently, there is also no consensus among experts or clinical guidelines regarding how to treat complications arising from airway stenosis after resection of central bronchial schwannoma. There have been no reports on the use of flexible bronchoscopy for treating airway stenosis caused by resection of bronchial schwannoma.

Case description: An 11-year-old pediatric patient with a history of schwannoma resection presented with recurrent cough and wheezing. Initially diagnosed with Pseudomonas aeruginosa pneumonia, the patient was discharged after 16 days of intensive antimicrobial and antiasthmatic therapy, showing marked symptomatic improvement. However, respiratory symptoms recurred the following day, and despite aggressive medical management, persistent and progressive dyspnea developed. Comprehensive clinical evaluation led to interventional bronchoscopy, which revealed and successfully removed suture remnants via holmium laser ablation. Over the subsequent 1-year follow-up period, the patient underwent 17 additional bronchoscopic procedures, including laser ablation, electrocautery, forceps debridement, balloon dilation, and cryotherapy, resulting in sustained resolution of respiratory symptoms and complete clinical recovery.

Conclusions: This case demonstrates that interventional treatment for airway stenosis resulting from schwannoma resection using flexible bronchoscopy is safe and effective and should be promoted.

Background: Venous malformations (VMs) are a common congenital vascular anomaly. The long non-coding RNA (lncRNA) HOTTIP, associated with the HOXA gene cluster, modulates the expression of multiple HOXA genes, which are crucial for vascular development. Abnormal HOXA expression disrupts normal vascular formation. However, no studies have explored the relationship between HOTTIP single nucleotide polymorphisms (SNPs) and the risk of VMs. This study examined whether SNPs in HOTTIP contribute to the development of VMs and their subtypes.

Methods: We conducted a case-control study involving individuals with VMs, collecting blood samples from 1,113 patients with VM and 1,158 healthy controls. TaqMan genotyping of the lncRNA HOTTIP rs3807598 C>G was performed using real-time fluorescence quantitative polymerase chain reaction (PCR) on the Applied Biosystems 7,900HT Fast Real-Time PCR System.

Results: Our multivariate logistic regression analysis found no significant correlation between the rs3807598 C>G polymorphism in HOTTIP and VM susceptibility in the general population (P>0.05). Stratification by site of origin revealed that the rs3807598 GG genotype was associated with an increased risk of upper-extremity VMs [adjusted odds ratio (OR) =1.55; 95% confidence interval (CI): 1.002-2.39; P=0.049].

Conclusions: Our study showed that HOTTIP rs3807598 C>G was not associated with VM risk. Further studies are needed to elucidate the interaction between the HOTTIP rs3807598 polymorphism and genetic and environmental factors to reveal its role in the pathogenesis of VM.

Background: Timely identification of intussusception secondary to pathological lead points (PLPs) is challenging for surgeons. This study aimed to comprehensively evaluate the differences between benign and malignant PLPs in a clinical context.

Methods: We reviewed 75 patients with secondary intussusception confirmed by surgical pathology between January 2012 and December 2023. Based on their PLPs, patients were categorized into benign and malignant groups, and we compared clinical features, imaging studies, and intraoperative characteristics between the two groups.

Results: Of the 75 patients, 62 had benign PLPs (most commonly Meckel's diverticulum, 50%) and 13 had malignant PLPs (predominantly lymphoma, 92.3%). Malignant PLPs were associated with a longer duration of illness, higher intussusception frequency, and closer proximity to the ileocecal region (P<0.05). Small bowel-large bowel intussusception was the most common type in both the benign (51.7%) and malignant (61.5%) group, with the most frequent subtype being ileo-ileal (36.7%) in the benign group and ileo-colic (50%) in the malignant group, respectively.

Conclusions: In secondary intussusception, malignant PLPs have a longer duration of illness, occur more frequently, and are closer to the ileocecal region. Ultrasound and computed tomography (CT) may complement each other in identifying some PLPs, which is crucial for timely and accurate diagnosis and treatment.

Background: Refractory Mycoplasma pneumoniae pneumonia (RMPP) presents a significant clinical challenge due to its potential for severe complications and long-term sequelae in children. While several risk factors have been identified, an accurate and early predictive tool to guide timely clinical intervention is urgently needed. This study aimed to identify the clinical risk factors and develop a nomogram model for the early prediction of RMPP.

Methods: This prospective study enrolled children diagnosed with Mycoplasma pneumoniae pneumonia (MPP) who visited The Second People's Hospital of Changzhou from June to December 2024. RMPP was defined as persistent fever and progressive pulmonary infiltrates despite ≥7 days of standard macrolide therapy. Baseline demographic and clinical variables were assessed at admission. Independent risk factors for RMPP were identified using multivariate logistic regression and were used to construct a predictive nomogram. The performance of the nomogram model was assessed by calibration curves, area under the receiver operating characteristic (ROC) curves (AUC), and the decision curve analysis (DCA).

Results: A total of 210 children were included, among whom 105 were diagnosed with RMPP. The median age was 7.0 years (interquartile range, 5.0-8.5 years), and 42.4% of participants were male. No significant differences in age or sex were observed between groups (P<0.05). Multivariate analysis identified fever duration [odds ratio (OR) =2.15, P<0.001], duration of glucocorticoid use (OR =1.56, P<0.001), and YKL-40 levels (OR =1.01, P=0.001) as independent risk factors for RMPP. The nomogram incorporating these three factors demonstrated excellent discrimination with an AUC of 0.92 (95% confidence interval: 0.88-0.96). Calibration curve and Hosmer-Lemeshow test (P>0.99) indicated excellent calibration. DCA confirmed the clinical utility of the nomogram, showing net benefit across a wide threshold probability range (0.04-0.94).

Conclusions: The nomogram constructed based on fever duration, glucocorticoid use duration, and YKL-40 level shows promise for early prediction of RMPP in children.

Background: The package insert is a key reference and legal basis for clinical medication. However, in the field of rare diseases, advances in diagnosis and treatment often outpace updates to drug labels, resulting in widespread off-label drug use-a practice that is particularly common and often unavoidable in pediatric populations. Inappropriate off-label use, however, carries significant clinical and safety risks.

Methods: Under the guidance of the Rare Disease Expert Committee of the Guangdong Pharmaceutical Association, a multidisciplinary panel of experts from clinical medicine, pharmacy, and related specialties developed the "Expert consensus on the off-label use of drugs for pediatric rare diseases in China (2025 edition)". The consensus integrates available evidence, clinical experience, evidence quality, and medication safety profiles, and was finalized after several rounds of rigorous iterative review.

Results: The consensus presents 73 recommendations on off-label drug use across 21 rare diseases, organized in a tabular format for clarity and ease of reference.

Conclusions: This consensus aims to standardize the management of off-label drug use in pediatric rare diseases. It supports medical institutions in developing off-label drug formularies, promotes rational drug use, and helps address the diagnostic and therapeutic needs of pediatric rare disease patients. Furthermore, it contributes to the establishment of a structured evaluation and management framework for off-label drug use in this clinical context.

Background: Jordan syndrome is a rare neurodevelopmental disorder caused by mutations in the PPP2R5D gene. It is characterized by developmental delay, macrocephaly, hypotonia, epilepsy, and autism spectrum disorder. This study aims to enhance clinical recognition of the disease by presenting two genetically confirmed cases and a comprehensive literature review.

Case description: This study retrospectively analyzed two unrelated male patients diagnosed with Jordan syndrome, both carrying the heterozygous PPP2R5D variant c.598G>A (p.Glu200Lys), confirmed as de novo. Both patients exhibited global developmental delay, macrocephaly, dysmorphic facial features, and abnormal cranial magnetic resonance imaging (MRI) findings. One patient also presented with epilepsy and experienced unexplained recurrent fever for 8 months during infancy. Electroencephalogram (EEG) abnormalities persisted over long-term follow-up despite antiepileptic treatment. Genetic testing confirmed the absence of this variant in their parents, and the variant was not found in the gnomAD database. In silico predictions using PolyPhen-2 and AlphaFold indicated a deleterious effect. According to American College of Medical Genetics and Genomics (ACMG) guidelines, this variant was classified as "pathogenic".

Conclusions: The c.598G>A (p.Glu200Lys) mutation is one of the most frequently reported pathogenic variants of PPP2R5D. The two cases reported here not only align with the known clinical spectrum of Jordan syndrome but also highlight a potentially novel phenotype of persistent unexplained fever in early infancy. Our literature review summarizes 213 reported cases and emphasizes the genotype-phenotype correlations, especially among patients with the c.598G>A (p.Glu200Lys) variant. Early diagnosis through genetic testing and multidisciplinary management is essential to optimize outcomes.

Background: Isolated fallopian tube torsion (IFTT) is an uncommon yet significant differential diagnosis in pediatric female patients presenting with acute abdominal pain. Delayed recognition may lead to tubal necrosis, necessitating salpingectomy and potentially compromising future fertility. Due to its low incidence and nonspecific clinical presentation, IFTT remains underdiagnosed in the pediatric population. This study aims to investigate the preoperative diagnosis and postoperative pathological conditions of IFTT patients.

Methods: A retrospective case series was conducted at Beijing Children's Hospital, Capital Medical University, between January 2020 and December 2024. Pediatric female patients under 18 years of age with intraoperatively confirmed IFTT were included. Data on clinical presentation, imaging findings, intraoperative observations, and histopathological results were reviewed.

Results: Eighteen patients (mean age: 12.19±1.58 years) met the inclusion criteria. Torsion occurred with equal frequency on the right and left sides (50% each). The predominant symptom was localized lower abdominal pain. Abdominal tenderness was noted in 72% of cases, and 28% presented with associated vomiting. Ultrasonography identified features suggestive of IFTT in 33% of cases, while computed tomography did not provide significant additional diagnostic value. All patients underwent laparoscopic exploration. Intraoperative findings included hydrosalpinx (28%), Müllerian cysts (44%), and para-tubal cysts (28%). Salpingectomy was performed in cases with irreversible ischemic injury.

Conclusions: Pediatric IFTT presents with nonspecific symptoms and poses a diagnostic challenge. Imaging modalities demonstrate limited sensitivity, highlighting the importance of early surgical evaluation. Laparoscopy enables prompt diagnosis and supports the possibility of fertility-preserving management. Enhanced clinical awareness of IFTT is essential among pediatric surgeons and gynecologists. Congenital or acquired tubal anomalies, such as cysts or hydrosalpinx, may contribute to the pathogenesis of torsion in this population.

Background: Autosomal dominant signal transducer and activator of transcription 3 (STAT3) mutations are broadly classified into loss-of-function (LOF) and gain-of-function (GOF) variants. LOF mutations in STAT3 are responsible for autosomal dominant hyperimmunoglobulin E syndrome (AD-HIES), a rare primary immunodeficiency disorder. This condition is characterized by elevated serum immunoglobulin E (IgE) levels, chronic eczema, and recurrent respiratory tract infections. Current conventional management strategies include antimicrobial therapy, immunoglobulin replacement, and systematic airway clearance. However, there remains a lack of targeted therapies specifically for AD-HIES, leading to substantial morbidity and significantly compromised quality of life for affected patients. Omalizumab, a monoclonal anti-human IgE antibody, is approved for the treatment of asthma and chronic spontaneous urticaria, but is rarely used in AD-HIES. Relevant studies on the application of omalizumab in AD-HIES patients primarily focus on alleviating skin issues, with significant improvements reported in most cases, but rarely focus on alleviating the lung symptom. We report two cases in which both skin and lung symptoms improved through a combination of omalizumab and conventional treatment.

Case description: We report two cases of AD-HIES caused by STAT3 mutations, both complicated by pulmonary involvement. These two patients continued to experience frequent acute infections despite long-term antibiotic use, regular airway clearance, and other conventional treatments. We introduced omalizumab as an adjunct to their existing therapy. After 9 months of treatment, both their skin and lung symptoms were well controlled. The administration of omalizumab in combination with conventional therapy resulted in varying degrees of clinical improvement.

Conclusions: The combination of omalizumab with conventional therapy may contribute to improved pulmonary and dermatological symptoms in patients with AD-HIES resulting from STAT3 LOF mutations.

Background: The periorbital region is one of the most prominent areas for social interaction. Conventional open surgeries in this area often leave scars or cause aesthetic and functional issues owing to tissue tension. Endoscopic methods are increasingly being applied to unconventional surgical approaches in pediatric surgery. This study aimed to introduce a method of resecting pediatric periorbital masses using endoscopic assistance with hidden incisions within the hairline and to compare its outcomes with those of conventional open surgeries.

Methods: Clinical data were collected from 46 pediatric patients diagnosed with "periorbital masses" who underwent mass resection surgery in the Department of Neurosurgery, Beijing Children's Hospital, Capital Medical University, between August 31, 2023, and September 1, 2024. The data collected included sex, age, surgery and hospitalization duration, mass size, postoperative pathology results, and total hospitalization costs. Postoperative follow-up data included the presence of complications, recurrence, and adoption of anti-scar treatment measures. Statistical analysis and visualization were performed using SPSS 22.0 and GraphPad Prism 10, with statistical significance set at P<0.05.

Results: A total of 46 children diagnosed with periorbital masses were included in the study, consisting of 30 males and 16 females, aged 0-14 years (median age: 3 years). The median age of patients undergoing conventional open surgery was 4 years (1-6 years), while the median age of those receiving endoscopic-assisted surgery was 1 year (1-3 years), with the latter being significantly younger. No statistically significant differences were found between the two surgical approaches in terms of mass size, hospitalization duration, average hospitalization costs, nor postoperative complication rates. However, the average surgical duration was significantly longer with the new technique. No recurrence was observed in any patient during the follow-up period. Notably, none of the 17 patients who underwent the new surgical technique required postoperative anti-scar treatment, compared to the higher rate of anti-scar treatment in the conventional surgery group.

Conclusions: Endoscopic resection of pediatric periorbital masses using a novel subcutaneous operative channel is a minimally invasive, safe, effective, cost-effective, and yields superior cosmetic outcomes, presenting a promising clinical application.

Background: Parenting plays a crucial role in the development and management of children with attention deficit hyperactivity disorder (ADHD). Understanding how different parenting style dimensions interact can inform family-based interventions. This study aimed to investigate the associations between parental overprotection, rejection, and emotional warmth in parents of children diagnosed with ADHD and to compare these associations between mothers and fathers.

Methods: A cross-sectional study was conducted involving 31 families of children aged 7 to 9 years diagnosed with ADHD. Children completed the Egna Minnen Beträffande Uppfostran-Short Form (S-EMBU) to evaluate their perceptions of parental behaviors across three dimensions: rejection, overprotection, and emotional warmth. Correlation analyses were performed using SPSS version 20.0.

Results: Strong positive correlations were found between parental rejection and overprotection in both mothers (r=0.822, P<0.001) and fathers (r=0.800, P<0.001). Emotional warmth showed weak negative correlations with both rejection and overprotection. These results indicate that rejecting and overprotective parenting behaviors tend to co-occur in parents of children with ADHD.

Conclusions: Parental rejection and overprotection show strong positive associations in both mothers and fathers of children with ADHD, suggesting these parenting styles may co-occur rather than being independent dimensions. These preliminary findings highlight the complex relationships between different parenting approaches in families of children with ADHD.