Translational pediatrics最新文献

Background: The spleen aminopeptide oral solution (SAOS) is a solution containing a mixture of polypeptide amino acids and polynucleotides derived from healthy bovine spleen. This study aimed to establish a randomized controlled clinical trial to evaluate the efficacy and safety of SAOS for children with allergic rhinitis (AR) and adenoid hypertrophy (AH).

Methods: Children with AR and AH who visited the Otolaryngology Department of the Children's Hospital Affiliated with Fudan University between June 2022 and April 2023 were included. The primary outcome was the adenoid-to-nasopharynx (A/N) ratio, and the secondary outcomes included nasal symptom score, AH score, and medication score. The primary outcome was evaluated before treatment (T0), after 1 month of treatment (T1), and after 2 months of treatment (T2). Blood and urine samples were collected at T0 and T2 for safety evaluation.

Results: A total of 78 patients were included, with 36 in the control group and 42 in the SAOS group. As the duration of medication increased, there was a significant decrease in nasal symptom scores (sneezing: F=52.806, P<0.001; runny nose: F=28.802, P<0.001; nasal itching: F=101.272, P<0.001; nasal congestion: F=83.349, P<0.001). Significant improvements in mouth breathing (Z=-2.650, P=0.008) and restless sleep (Z=-2.759, P=0.006) were observed in the SAOS group compared to the control group at T2. Additionally, the difference in scores between T2 and T0 was significantly lower in the SAOS group compared to the control group (Z=-2.299, P=0.02).

Conclusions: As an adjuvant therapy for 8 weeks, SAOS could significantly reduce the size of adenoids and improve clinical symptoms associated with AH.

Trial registration: The study was registered on the Chinese Clinical Trial Registry website (https://www.chictr.org.cn/) (registration number: ChiCTR2200056763).

The completion of the Human Genome Project and tremendous advances in automated high-throughput genetic analysis technologies have enabled explosive progress in the field of genetics, which resulted in countless discoveries of novel genes and pathways. Many phenotype- or disease-associated single nucleotide polymorphisms (SNPs) with a high statistical significance have been identified through numerous genome-wide association studies (GWAS), and various polygenic risk scoring (PRS) schemes have been proposed to identify individuals with a high risk for a certain trait or disorder. Meanwhile, medical education in genetics has lagged far behind, leaving many physicians and healthcare providers unprepared in the genomic era. Thus, there is an urgent need to educate physicians and healthcare providers with basic knowledge and skills in genetics. To facilitate this, some basic terminologies and concepts are discussed in this review. In addition, some important considerations in delineating and incorporating clinical genetic testing in the diagnosis and management of a monogenic disorder are illustrated in a stepwise fashion. Furthermore, the effects of disease-associated SNPs represented by a PRS scheme clearly demonstrated that even the phenotypes of a monogenic disorder due to the same pathogenic variant in family members are modulated by the polygenic background. In human genetics, despite these explosive advancements, we are still far from clearly deciphering the interplay of gene variants to effect unique characteristics in an individual. In addition, sophisticated genome or gene directed therapies are being investigated for numerous disorders. Therefore, evolution in the field of genetics is likely to continue into the foreseeable future. In the meantime, much emphasis should be placed on educating physicians and healthcare professionals to be well-versed and skillful in the clinical use of genetics so that they can fully embrace the new era of precision medicine.

Background: Histiocytic necrotizing lymphadenitis (HNL) is a rare benign self-limiting inflammatory disease that mainly affects young adults; however, the exact pathogenesis is unknown. A four-year-old child who was diagnosed with HNL combined with autoimmune encephalitis (AE) was admitted to Tongji Hospital of Huazhong University of Science and Technology. This study aimed to describe the clinical characteristics, laboratory tests, imaging findings, and treatment outcomes of this pediatric patient with HNL + AE.

Case description: A 4-year-old male child was admitted to our hospital after presenting with a neck mass persisting for over two months and a fever lasting five days. The initial symptom was fever accompanied by lymph node enlargement. The patient was diagnosed with HNL; however, the patient did not respond significantly to treatment, and he continued to have lymph node enlargement and intermittent fever. Some six months later, the patient developed neurological symptoms, including decreased voluntary activity, impaired speech, and reduced appetite. Subsequent serum testing yielded positive results for contactin-associated protein-2 (CASPR2), leading to a diagnosis of CASPR2 antibody-associated encephalitis. The final diagnosis was HNL + AE. The patient's condition improved after the corresponding treatment was administered. Subsequent follow-up examinations indicated no recurrence.

Conclusions: This is the first documented case of HNL + AE in a pediatric patient exhibiting typical symptoms of fever, lymph node swelling, and pain, accompanied by acute neurologic symptoms, and an extended disease course. This report provides a reference for the diagnosis of HNL + AE in the future.

Background: China's language therapist shortage and intergenerational caregiving trends underscore the need for family-based language training, yet such interventions are underutilized and family roles undervalued. This study aims to investigate the effect of a therapist-led family-centered intervention on children with language delay.

Methods: The study comprised 134 children, comprising 59 girls and 75 boys, aged between 2 and 5 years (39.92±10.23 months) who presented with language delay. These participants were selected from the pediatric rehabilitation ward of the Second Affiliated Hospital of Army Medical University from July 2021 and July 2023. They were divided into a control group (n=70) receiving language therapy led by a language therapist, and an observation group (n=64) receiving therapist-led family-centered language intervention in conjunction with the treatment provided to the control group. Demographic characteristics were analyzed. The Gesell and Sign-significant (S-S) were used for assessments before and after the intervention.

Results: No significant demographic differences were found between the groups. Both groups demonstrated significant improvements in language development following a 3-month intervention as assessed by the Gesell assessment. The control group showed an increase from 52.97±4.79 to 65.97±3.48 (P<0.001), while the observation group improved from 53.53±4.06 to 71.98±4.51 (P<0.001). Additionally, prior to the intervention, differences were observed between the control group and the observation group in S-S assessments, particularly in symbolic form and instructional content (P=0.04 and P<0.001) as well as foundational research topics (P=0.04 and P<0.001). Following the intervention, the observation group demonstrated more significant advancements in language development compared to control group as evidenced by higher Gesell scores (18.45±5.72 vs. 13.00±6.16, P<0.001), S-S assessments in symbolic form and instructional content (1.11±1.55 vs. 0.53±1.57, P=0.03), and foundational research topics (1.42±1.88 vs. 0.64±2.14, P=0.02). Based on the Gesell assessment, there was a significant improvement in personal-social skills for both groups of children following intervention (all P<0.05), with the observation group demonstrating a more pronounced enhancement compared to the control group (4.73±4.07 vs. 2.20±3.68, P<0.001).

Conclusions: Therapist-led family-centered interventions enhance language development, with parents playing a significant role in mitigating skip-generation caregiving and fostering greater parent-child interactions.

Background: Extracranial malignant rhabdoid tumors (eMRTs) are rare, highly aggressive neoplasms, predominantly arising in the kidneys, with bladder involvement being extremely uncommon. Optimal management strategies, particularly bladder-preserving approaches, are not well-established due to the rarity of these cases.

Case description: We report the case of a 4-year-old girl who presented with persistent gross hematuria. Imaging revealed a large bladder mass and histopathological examination confirmed the diagnosis of an extrarenal rhabdoid tumor with loss of SMARCB1 expression. The patient underwent a multimodal treatment approach, including bladder-preserving surgery, 12 cycles of high-dose MRTK-2020 neoadjuvant chemotherapy [comprising actinomycin D, vincristine, doxorubicin, cyclophosphamide (AVDC), ifosfamide, carboplatin, and etoposide (ICE)], followed by adjuvant radiotherapy. Remarkably, the patient achieved complete remission after two cycles of chemotherapy and remained in continuous remission with no evidence of disease at the 15-month follow-up.

Conclusions: This case underscores the diagnostic challenges of malignant rhabdoid tumors (MRTs) in bladder pathologies and highlights the significance of considering such tumors in differential diagnoses. Despite the limited evidence base, bladder-preserving surgeries, when feasible, should be considered and accompanied by adjuvant therapies for optimal outcomes. This case illustrates the potential for successful treatment of pure MRTs of the bladder using a combination of surgery, chemotherapy, and radiotherapy.

Background: Inflammatory myofibroblastic tumors (IMTs) are rare, often non-metastasizing neoplasms characterized by fibro/myofibroblastic spindle cells with varying infiltrates of plasma cells, lymphocytes, and/or eosinophils. Despite their generally indolent nature, IMTs can exhibit locally aggressive behavior and a significant tendency for local recurrence, making complete surgical resection the standard treatment approach. Accurate diagnosis can be challenging due to the overlap in imaging features with more aggressive tumors, necessitating preoperative biopsies to enable differential diagnosis and guide treatment decisions. The complexity of distinguishing IMTs from other malignancies underscores the importance of biopsy in establishing an accurate diagnosis and planning appropriate management strategies.

Case description: This study presents the cases of four pediatric patients (three males, one female) diagnosed with IMT, involving tumors located in the lung (one case), bladder (one case), and liver (two cases). Initial minimally invasive biopsies, including a US-guided tru-cut core biopsy and a percutaneous core biopsy in one case, as well as endoscopic core biopsies in two other cases, yielded inconclusive results. These initial procedures failed to provide definitive diagnostic information, necessitating the use of more precise diagnostic techniques to achieve a definitive histological diagnosis of IMT.

Conclusions: The findings indicate that when initial biopsy results are inconclusive in cases suspected to be IMT, more precise diagnostic procedures may be necessary to secure a definitive diagnosis. This highlights the need for careful consideration of alternative biopsy methods to ensure accurate identification and effective management of IMT in pediatric patients.

Background: Autoimmune diseases in children pose therapeutic challenges due to their refractory nature and the associated morbidity. Rituximab (RTX), a monoclonal antibody targeting CD20, has emerged as a promising steroid-sparing therapy for various autoimmune disorders by depleting B cells. However, its indications and safety in pediatric populations in our region remain insufficiently studied. This study aims to review the indications and safety of RTX in treating pediatric autoimmune diseases within a single-center setting.

Methods: A retrospective study was conducted on pediatric patients aged 18 years or younger who received RTX for different autoimmune diseases between January 2013 and March 2023 at King Abdulaziz University Hospital, Saudi Arabia. Data on demographics, indications, infusion details, adverse events, and concurrent medications were collected and analyzed.

Results: Twenty-two patients were included, with nephrotic syndrome and systemic lupus erythematosus (SLE) being the most common indications for RTX. The mean age at diagnosis and first RTX infusion was 8 and 9 years, respectively. The most commonly used protocol involved administering 2 infusions of 375 mg/m² each, given 2 weeks apart. RTX was commonly used as a second-line treatment following corticosteroids. Infusion-related adverse events occurred in 31.8% of patients, ranging from mild reactions such as chest tightness, fever, and headache to severe reactions such as anaphylaxis. No infectious related adverse events were observed.

Conclusions: This study highlights both the varied indications for which RTX was prescribed and the need for vigilance concerning infusion-related adverse events. It underscores the importance of close monitoring and appropriate management to ensure the safety of RTX therapy in pediatric patients. Further research is warranted to optimize treatment strategies and enhance patient outcomes in this population.

Background: Currently, the exploration of amblyopia treatment methods is gradually shifting to the restoration of binocular visual perceptual function. Binocular fusion function, as an important component of binocular visual function, mainly reflects the patient's ability to integrate the signals received from both eyes. In this study, we investigated the relationship between binocular fusion function and improvement in visual acuity during amblyopia treatment.

Methods: A retrospective analysis was conducted on a cohort of patients with amblyopia, aged 3-14 years old, who visited an outpatient clinic in Shenzhen Eye Hospital between May 2021 and January 2023. The investigation included 105 patients (210 eyes) with isometropic or anisometropic amblyopia. All participants underwent cycloplegic refraction examination and binocular fusion function measurement. All patients underwent standard amblyopia treatment, and those with the best-corrected visual acuity (BCVA) of 0.6 or higher in the amblyopic eye of both eyes received binocular fusion training using a computer platform.

Results: A statistically significant negative correlation (-0.263, P=0.007) was observed between the absolute difference in binocular BCVA and binocular fusion function at the start of treatment (baseline). Linear regression analysis revealed that the improvement in BCVA in the amblyopic eye exhibited correlations with several factors, including the baseline binocular BCVA difference, baseline BCVA of the amblyopic eye, improvement in binocular fusion function, and the number of fusion training sessions (regression coefficients: -0.463, -0.771, 0.007, and 0.063, respectively; all P<0.05). Two patterns of binocular fusion function development during treatment were identified using group-based trajectory modeling (GBTM): the slow growth pattern and the rapid growth pattern. The results of a multivariate logistic regression model indicated a statistically significant link between fusion training and the development pattern of binocular fusion function [odds ratio (OR): 5.219, 95% confidence interval (CI): 2.045-13.323].

Conclusions: Enhancing binocular fusion function may result in an improvement of BCVA in the amblyopic eye of patients with amblyopia. The frequency of binocular fusion training is crucial for rapid improvement in binocular fusion function.

Pediatric and congenital cardiac surgery, characterized by its complexity and high-stakes nature, demands superior technical expertise and multidisciplinary teamwork. With limited surgeons worldwide, the role of continuous skill refinement and collaborative practice is crucial for patient safety and successful outcomes. A literature search was performed using the PubMed, Cochrane, SCOPUS and Web of Science databases for studies published until September 2024. Articles were analysed to summarize findings on the impact of mentorship and teamwork within pediatric and congenital cardiac surgery. This article explores the dual importance of teamwork and mentorship in shaping the next generation of pediatric and congenital cardiac surgeons. The study examines the impact of mentorship on reducing learning curves and improving surgical outcomes whilst highlight the unique challenges faced by surgeons in low-income countries (LICs). Effective mentorship can serve as a bridge between knowledge and practice, ensuring that surgeons in resource-constrained environments can confidently adapt to challenges and improve patient outcomes despite the limited resources. By emphasizing a culture of innovation and collaborative teamwork, pediatric and congenital cardiac surgery continues to achieve increasingly better patient outcomes on a global scale. This study highlights how continuous mentorship and teamwork not only enhance technical proficiency but also drive advancements in surgical techniques and overall care, contributing to the ongoing global progress in pediatric and congenital cardiac surgery.