Frontiers in Pediatrics最新文献

Background: Congenital hemophilia A is a recessive inherited hemorrhagic disorder caused by factor VIII (FVIII) deficiency. According to the activity of functional coagulation FVIII, the severity of hemophilia A is divided into three levels: mild, moderate and severe. The characteristic phenotype in hemophilia is the bleeding tendency. Clinical severity depends on the extent of the FVIII deficiency and the first bleeding episode in severe and moderate congenital hemophilia A usually occurs in early childhood. At present, there are few reports on symptomatic severe congenital hemophilia A in the neonatal period.

Case presentation: We describe a pair of monozygotic twin brothers with severe hemophilia A. Patient-related factors, including a birth weight discrepancy of 10%, the need for non-invasive respiratory support due to mild respiratory distress, duration of breastfeeding, and vaccinations, were similar in both twins. Anti-hemorrhagic prophylaxis was carried out after birth with IM vitamin K. Due to the presence of prolonged bleeding at the sampling site after performing EGA (Blood Gas Analysis) and neonatal screening, a coagulation test was carried out and a coagulation factor assay (dosage of activity of factors VII, IX, XI, XII) was performed accordingly: activated partial thromboplastin time (APTT) was prolonged without extended prothrombin time (PT). Factor VIII activity was completely absent (0.7%) in both twins. Hematological consultancy was requested and a diagnosis of severe congenital hemophilia A was established. Emicizumab was started as the primary anti-hemorrhagic prophylaxis, with good response and no major bleeding events in the first year of therapy.

Conclusions: The coagulation system is not fully developed at birth, complicating clinical decision-making and the correct interpretation of coagulation testing. Targeted coagulation profiling and factor assays are mission-critical for newborns from twin pregnancies when a hematological disorder is suspected. Coagulation factor assays are essential to confirm the diagnosis of hemophilia A. An early diagnosis of hemophilia is crucial for the timely initiation of an appropriate management plan.

Objective: To describe factors of ventilation strategies associated with weaning success for surviving patients from prolonged mechanical ventilation (PMV) in Pediatric Intensive Care Units (PICUs).

Methods: Conducted a retrospective study across eleven PICUs in mainland China from January 1, 2021, to December 31, 2022.

Results: 234 patients diagnosed with PMV were included in the study. Weaning Outcomes: 58.1% (136 patients) successfully weaned, includeing 11.1% (26 patients) required only a tracheostomy. 9.8% (23 patients) needed non-invasive ventilation. 32. 1% (75 patients) continued to require mechanical ventilation. 34.2% (80 patients) on invasive pressure control mode at PMV diagnosis. Pressure control was the most commonly used method. Synchronized intermittent mandatory ventilation (SIMV) used by 30.4% (71 patients). Pressure support ventilation (PSV) used by 5. 1% (12 patients). 63.2% (148 patients) received physiotherapy. 44.9% (105 patients) received cough augmentation techniques. 26.9% (63 patients) underwent tracheostomy after an average of 29 days of invasive mechanical ventilation. Higher fraction of inspired oxygen (FiO2) on PMV diagnosis day associated with weaning failure, the OR value is 0.674. While lower airway diseases had one more times chance of weaning seccess than central nervous system diseases, the OR value is 2.144.

Conclusion: Among survivors, ventilation strategies for PMV weaning in Chinese PICUs are diverse, with pressure control commonly used initially, followed by SIMV and PSV. We identified a higher FiO2 at PMV diagnosis as risk factors for weaning failure, while lower airway diseases were easier to wean.

Introduction: Purified hemoglobin spray had emerged as a potential adjunctive therapy to accelerate wound healing in pediatric patients with burns. This retrospective study aimed to compare the healing process and post-treatment outcomes of children with second-degree burns treated with or without purified hemoglobin spray in a tertiary burn unit between December 1, 2023, and December 1, 2024. Data including demographics, burn characteristics (source, percentage, depth), number of dressings, length of hospital stay, and the day of complete epithelialization were recorded. Follow-up assessments at 3 and 6 months post-discharge evaluated the presence of pruritus and epithelialization defects, including hypertrophic scarring, pigmentation changes, or contractures.

Methods: Data were collected from pediatric patients with second-degree burns treated in a tertiary burn unit between December 1, 2023, and December 1, 2024. Variables included demographics, burn characteristics (source, percent TBSA, depth), number of dressings, length of hospital stay, and day of complete epithelialization. Patients were grouped by receipt of 99.9% purified hemoglobin spray versus no spray. Follow-up assessments at 3 and 6 months post-discharge evaluated pruritus and epithelialization defects, including hypertrophic scarring, pigmentation changes, or contractures.

Results: Patients treated with 99.9% purified hemoglobin spray had significantly shorter hospital stays and epithelialization times (p < 0.001). Post-discharge pruritus was also significantly less common in this group (p < 0.001). The risk of developing pigmentation defects and epithelialization defects at the third month after discharge was reduced by 94.0% and 90.9%, respectively, while at the sixth month the risk of pigmentation defects was reduced by 90.9% and the risk of hypertrophic scar development during the 6-month follow-up period was reduced by 93.3%.

Discussion: These findings suggested that purified hemoglobin spray might enhance wound healing, reduce the need for frequent dressing changes, and minimize long-term complications in pediatric burn care.

Objective: To investigate the prevalence, perinatal risk factors, and clinical outcomes associated with Ureaplasma species (Ureaplasma spp.) colonization in hospitalized preterm infants.

Methods: This retrospective study included preterm infants (<37 weeks' gestation) admitted to the Neonatology Department of the Children's Hospital of Soochow University, China, between December 2023 and June 2025. Infants transferred within 72 h of birth and tested for Ureaplasma spp. in nasopharyngeal aspirates within 72 h were eligible. Infants with delayed testing, incomplete clinical data, or early death or discharge were excluded. Nasopharyngeal aspirates samples were analyzed for Ureaplasma spp. DNA by polymerase chain reaction. Demographic, perinatal, laboratory, and clinical outcome data were collected. Comparisons between Ureaplasma spp.-positive and Ureaplasma spp.-negative groups were performed, and multivariate logistic regression was used to evaluate the association between Ureaplasma spp. colonization and major morbidities.

Results: Among 368 eligible preterm infants, 58 (15.8%) were Ureaplasma spp.-positive. The colonization rate increased progressively with decreasing gestational age (GA), reaching 31.8% among infants <28 weeks, and was highest among those with a birth weight of 1,000-1,499 g (20.4%). Ureaplasma spp.-positive infants had a significantly lower GA (P < 0.05). Vaginal delivery and prolonged rupture of membranes (PROM) were more common in the Ureaplasma spp.-positive group (both P < 0.001), whereas gestational hypertension was more frequent in the negative group (P = 0.008). The positive group had higher white blood cell counts and a greater frequency of elevated C-reactive protein (CRP) levels (P < 0.05). Clinically, Ureaplasma spp. colonization was associated with more frequent and prolonged oxygen supplementation and higher incidences of bronchopulmonary dysplasia (BPD), necrotizing enterocolitis (NEC), sepsis, and retinopathy of prematurity (ROP) (all P < 0.05). After adjusting for confounders, Ureaplasma spp. colonization remained independently associated with BPD, NEC, and ROP (P < 0.05), but not with sepsis.

Conclusions: Ureaplasma spp. colonization is common in hospitalized preterm infants, particularly among those of lower gestational age. Vaginal delivery and PROM are significant perinatal risk factors. Ureaplasma spp. colonization is associated with heightened inflammatory responses and independently contributes to major morbidities, including BPD, NEC, and ROP, but not with sepsis after adjustment for confounders.

Appendicitis in young children (age <5 years) frequently presents with atypical symptoms, creating diagnostic challenges in primary care and emergency settings. This report describes a 4-year-old girl who presented to the emergency department with fever, vomiting, and abdominal pain. Initial evaluation including abdominal ultrasound showed no evidence of appendicitis, and she was discharged with a presumptive diagnosis of viral gastroenteritis. Five days later, she was readmitted with persistent symptoms and markedly elevated inflammatory markers. Advanced imaging revealed a hepatic abscess, initially attributed to primary liver pathology. Diagnostic laparoscopy ultimately revealed perforated appendicitis with secondary hepatic abscess. The patient underwent successful laparoscopic appendectomy and abscess drainage with complete recovery. This case highlights the essential clinical approach of maintaining a broad differential diagnosis, recognizing the limitations of imaging, and mandating systematic re-evaluation with structured follow-up when a patient's expected clinical improvement fails to materialize.

Objective: Ketogenic diets (KDs) have been used in the management of multiple pediatric and adult epilepsies. CER-0001 (tricaprilin) is an orally administered, liquid, investigational ketogenic drug with preclinical efficacy in an infantile spasms (IS) animal model. This study aims to evaluate the safety and tolerability of CER-0001 for the treatment of drug-resistant IS in individuals not following a KD.

Methods: Participants underwent a 28-day study period following baseline measurements that included a 24 h video electroencephalogram (vEEG) and caregiver diary. CER-0001 was titrated over a period of up to 14 days, with the total daily dose divided into four doses every 6 h to determine the maximum tolerated dose or to achieve seizure control. Participants who experienced improved seizure control were maintained on the dose for 7 days, while those without clinical benefit underwent a repeat vEEG on the final day of titration to confirm continuation to the maintenance phase. A 1-year open-label extension phase was offered to participants in Australia who exhibited improvement in seizure control.

Results: Out of the eight participants enrolled in the study, it was found that the majority of reported treatment emergent adverse events (TEAEs) were mild and moderate. The most common TEAEs were gastrointestinal (GI) related, observed in 75% of participants, with vomiting reported in 50%. Two participants (25%) experienced severe TEAEs. Four participants showed a 50%-75% improvement in seizure clusters on the vEEG, while two experienced a 100% improvement. Of the eight participants who completed the titration phase, seven continued into the maintenance phase of the study, and of these, three continued CER-0001 treatment beyond completion of the maintenance phase, either through the open-label extension protocol in Australia (n = 2), or through the special access route (SAR) program in Singapore (n = 1). Overall, CER-0001 was well tolerated and was associated with preliminary benefits for refractory IS.

Significance: Our findings demonstrate that CER-0001 offers a novel potential treatment option as a prescription drug for ketogenic therapy, without the restrictions imposed by KDs.

Background: Mycoplasma pneumoniae pneumonia (MPP) is a prevalent respiratory infection. Refractory MPP (RMPP) presents more severe symptoms and requires more intensive treatment compared to general MPP (GMPP). This study aimed to identify distinguishing clinical, laboratory, and radiological characteristics between RMPP and GMPP and develop an early predictive model for RMPP risk stratification.

Methods: A total of 568 patients, including 130 RMPP cases and 438 GMPP cases, were enrolled. Clinical information, laboratory tests, and radiological features were compared. Univariate and multivariate logistic regression analyses identified serum biomarkers associated with RMPP. A combined predictive model using random forest approach was developed and externally validated.

Results: RMPP patients showed significantly higher rates of older age, fever, tachypnea, chest tightness, wheezing, chills, extrapulmonary complications, decreased unilateral lung sounds, longer fever duration, hospital stay, antibiotic therapy, oxygenotherapy use, and Intensive Care Unit (ICU) admission (all P < 0.05). Laboratory findings revealed elevated neutrophil percentage, C-reactive protein (CRP), lactate dehydrogenase (LDH), immunoglobulin A (IgA), interleukin (IL)-6, IL-10, and interferon-gamma (IFN-γ), but lower prealbumin (PAB) concentrations in RMPP. Radiologically, RMPP exhibited more severe manifestations such as large lesions, pleural effusion, lobar atelectasis, pulmonary consolidation, and pleural thickening. Using the eight independently associated serum biomarkers, we developed a multi-factor random forest model that showed excellent discrimination between RMPP and GMPP (AUC = 0.978 in the development cohort), which was confirmed in an external validation cohort (AUC = 0.957).

Conclusions: Significant differences in clinical, laboratory, and radiological characteristics were observed between RMPP and GMPP. The combined multi-marker model shows strong potential for early risk identification of RMPP and may support timely clinical decision-making; however, prospective validation is needed before routine implementation.

Background: To support physical activity (PA) among pediatric cancer patients, the IMPACT (IMplementation of Physical Activity for Children and adolescents on Treatment) PA intervention was developed. IMPACT is a 1:1, supervised, PA intervention delivered by exercise professionals over videoconference. It is being evaluated in a hybrid effectiveness-implementation trial. This interim report: (1) examines implementation, (2) explores changes in select secondary effectiveness outcomes, and (3) reviews quality improvement data and documents refinements to date.

Methods: Children and adolescents affected by cancer and blood disorders (5-18 years old), awaiting, on-, or <3 months off-treatment are referred or self-referred to the IMPACT intervention and trial. IMPACT is a 12-week, 1:1, supervised, PA intervention delivered by videoconference by a trained exercise professional. Interim IMPACT implementation covers reach (referral rates, participation rate, participant demographics), adoption (sources of referrals, difference in referrals across referring sites), and implementation (trial retention, adherence to PA sessions, percentage of missing data, intervention delivery time, expertise, PA session fidelity, trial delivery time, adverse events) metrics collected throughout trial delivery. Interim effectiveness data includes a subset of secondary effectiveness outcomes (quality of life via PedsQL, physical fitness) collected pre- and post-intervention. Additional quality improvement cycle data were collated and reviewed every 6 months. All data were analyzed with descriptive statistics and individual change scores.

Results: Between 1 March 2022 and 12 December 2024, 93 patients were referred (84 = healthcare provider referral; 9 = self-referred), 36 expressed interest, 14 consented and enrolled, and 12 completed the intervention (participation rate = 39%). Retention to the trial was 33%, adherence to PA sessions was 57%, no adverse events were reported, and missing data was 54%. Visual analysis of individual change scores suggests no significant changes in select secondary outcomes. Over 300 intervention and trial delivery hours were accrued, and intervention delivery fidelity was high (95.2 ± 3.83%). Data from quality improvement cycles informed refined and novel recruitment and outreach resources, including posters, brochures, videos, and presentations.

Conclusions: Although levels of referral are high, participation, retention, and adherence rates are low. Results highlight critical areas for improvement to facilitate enrollment, improve adherence, and support data collection for the remaining months of intervention and trial delivery.

Neonatal hyperthyroidism (NH) is a rarely reported condition, but inappropriate treatment can have serious consequences. Early diagnosis, treatment, and follow-up are, therefore, essential. We present the case of a male newborn who was admitted to the Pediatrics Department 24 min after birth due to prematurity, presenting with tachypnea and grunting for 20 min. Subsequently, the infant developed increased respiratory rate, tachycardia, crying, and irritability. Bilateral periorbital edema and hyperdynamic heart sounds were also noted. Myocardial injury markers were significantly elevated, indicating myocardial injury. Following treatment with dopamine and dobutamine, the heart rate decreased, but crying, irritability, and periorbital edema persisted. Further history-taking led to a diagnosis of NH with neonatal goiter. The infant was started on oral methimazole and propranolol. Three days after initiation of therapy, the symptoms resolved rapidly, and the patient was discharged.

Background: Supracondylar humeral fractures are the most common elbow fractures in children and are often treated with closed reduction and percutaneous Kirschner wire (K-wire) fixation. After far-cortex breach, delayed stopping can cause overdrilling and jeopardize adjacent neurovascular structures. We evaluated a force-sensing drill-through stopping system in a porcine humerus model and assessed the effects of feed rate and spindle speed on overdrill depth.

Methods: Porcine distal humeri were drilled with a 2.0-mm K-wire introduced through the lateral condyle at ∼60° to the humeral longitudinal axis. A six-axis force/torque sensor measured axial force; a transient force drop triggered an automatic stop command. Overdrill depth was the distance the K-wire tip advanced beyond the outer surface of the far cortex. Parameter tests compared feed rates (0.5/1.0/1.5 mm·s^-¹ at 1,200 r min^-¹) and spindle speeds (900/1,200/1,500 r min^-¹ at 1.0 mm s^-¹). Robotic vs. manual drilling was evaluated in paired tests at adjacent, non-interfering sites; manual drilling was performed by a senior pediatric orthopedic surgeon using tactile feedback. Statistical analysis used repeated-measures one-way ANOVA with Geisser-Greenhouse correction and Tukey post hoc tests, and paired t-tests (α = 0.05).

Results: Feed rate significantly affected overdrill depth (Geisser-Greenhouse corrected, p = 0.016); 1.5 mm·s^-¹ produced greater overdrill depth than 0.5 mm·s^-¹ (Δ = 0.252 mm, adjusted p = 0.0456). Spindle speed had no significant effect (p = 0.900). In paired comparisons, the robotic system reduced overdrilling from 6.60 ± 1.53 mm (manual) to 0.87 ± 0.12 mm (robotic) (mean paired difference 5.73 mm, 95% CI 4.67-6.80; p < 0.0001), an 86.8% reduction.

Conclusions: The force-sensing drill-through stopping system limited overdrill depth to approximately 1 mm in a porcine humerus model. Within the tested range of 900-1,500 r·min^-¹ and 0.5-1.5 mm·s^-¹, higher feed rates produced a modest increase in overdrilling whereas spindle speed had no significant effect. Compared with manual drilling, the system substantially reduced overdrill depth (≈1 mm vs. 6.6 mm), suggesting potential safety advantages during percutaneous pinning by limiting overdrilling and thereby increasing the safety margin after far-cortex breakthrough. Clinical studies are warranted to determine whether this translates into fewer neurovascular complications.