Introduction: As neonatal intensive care unit (NICU) survival improves, the number of children with tracheostomy, along with those who require home care nursing (HCN), is rising. Discharge delays (DD) are an issue, with an emotional or financial toll on children, families, and the health care system. We aimed to investigate whether social drivers of health like socioeconomic status (SES), race, sex, and medical factors such as gestational age influenced DD for children with tracheostomy. Materials and Methods: We conducted a retrospective chart review of children who underwent tracheostomy in the NICU during a 5-year period. Four authors reviewed electronic medical records for demographics, clinical information, and DD. SES was determined based on the HOUsing-based SocioEconomic Status (HOUSES) index. The Kruskal-Wallis test and Spearman's correlation were used to assess the association between DD in days and independent variables. In addition, the cohort was divided into 2 groups based on DD >= 30 days to explore factors associated with it descriptively. Results: Sixteen children were included in the study (10 female, 6 male). Ten children were identified as White, and 3 as Black. Three children were not White or Black. Only one child did not experience DD. Median DD was 15 days (interquartile range [IQR]: 13-24; range 0-49). Three children had clinically significant DD (>30 days). The most common cause of DD was waiting for HCN (10/16, 63%, P = 0.065). Race (White versus Black versus other) was associated with DD (P = 0.045). Female sex (P = 0.039) was associated with significant DD, while birthweight (P = 0.19) and HOUSES index (P = 0.49) were not. Conclusion: DD is a common phenomenon in children with tracheostomy in the NICU, and lack of HCN is the major factor. Race and sex may play a role in DD. HCN shortages and other causes of DD should be further studied and addressed.
Shared decision-making (SDM) interventions have been shown to improve asthma control in adults but are less studied in pediatric-caregiver dyads. Because asthma imposes a disproportionate burden on Black and Hispanic adolescents, we adapted an adult asthma SDM intervention to minoritized dyads.Focus groups informed adaptation of the intervention. Feasibility, for example, intervention fidelity, and clinical outcomes, for example, effect of the active intervention on shared decision-making (SDM-9) scores and Asthma Control Questionnaire (ACQ) scores were assessed. Post-trial interviews assessed acceptability of study components based on implementation metrics.Nine focus groups were conducted with 25 adolescents (36% female; 84% Hispanic; mean age = 12.7 years) and 20 caregivers (95% female; 90% Hispanic; mean age = 39.8 years) to adapt the intervention to dyads. Sixty adolescents (aged 10-14 years; 53% female; 77% Hispanic; mean age = 11.3 years, caregivers (90% female; 77% Hispanic; mean age = 39.4 years), and dyads were enrolled in the trial. Clinician interventionists (n = 7) were randomized to the active SDM or dose-matched attention control condition. Feasibility was demonstrated by high fidelity to intervention delivery, high retention of subjects, and high rates of data collection. No outcomes were significant for example, ACQ: beta = 0.15, 95% confidence interval -0.22, 0.51, P = 0.43, although adolescents in the active arm reported higher SDM scores relative to controls (beta = 3.35 P = 0.14). Adolescents, caregivers, and clinicians completing posttrial interviews found the study acceptable.The intervention was feasible and acceptable. Although no significant health improvements were detected, targets for future refinements, for example, in-person-only intervention delivery and enrollment of younger children, warrant testing to determine if a dyadic SDM may be a useful patient-centered strategy for underserved pediatric populations.While an SDM intervention was feasible and acceptable, refinements are needed to translate SDM improvements to behavior change that impact asthma outcomes.
Introduction:Hereditary angioedema (HAE) is a rare, potentially life-threatening genetic condition characterized by recurrent episodes of localized tissue swelling, often affecting the skin, upper respiratory tract, and gastrointestinal system. HAE-FXII, also known as HAE with normal C1 inhibitor (C1INH), has been associated with mutations in only one of several genes, including FXII encoding coagulation factor XII (FXII). The aim of the study was to investigate the pathogenicity and functional consequences of the c.1681-7G>A intronic variant in the FXII gene according to ACMG guidelines in familial cases of HAE-FXII.Materials and Methods:Genetic analysis was performed using Sanger sequencing on affected individuals. To assess whether the variant affects splicing, in silico analysis and Messenger RNA (mRNA) studies were conducted on patient-derived samples.Results:The c.1681-7G>A variant was identified in multiple individuals from affected families. However, splicing analysis revealed that this intronic variant did not cause any alteration in mRNA processing. No aberrant transcripts were detected, and expression levels were comparable to controls, indicating that the variant does not have an effect on splicing or gene function.Discussion:The c.1681-7G>A variant in the FXII gene is unlikely to be a pathogenic alteration in HAE type III.Contribution to the Literature:These findings support its classification as a benign variant, emphasizing the importance of functional validation when interpreting intronic changes in genetic diagnostics.
Background:Allergic bronchopulmonary aspergillosis (ABPA) is a common complication in cystic fibrosis (CF), leading to decreased lung function and frequent pulmonary exacerbations. Standard treatments, including glucocorticoids and antifungal medications, have limited long-term benefits and are often not well tolerated.Methods:This case series explores the use of dupilumab, a monoclonal antibody targeting the IL-4/IL-13 pathways, as treatment for ABPA in three pediatric patients with CF.Results:The results showed significant improvements in biomarkers such as total IgE and Aspergillus-specific antibodies as well as a reduction in the need for corticosteroids and antifungal agents. However, the clinical outcomes varied, with some patients experiencing limited improvement in lung function and continued challenges with pulmonary exacerbations and coexisting infections.Conclusions:The mechanism of dupilumab offers a novel therapeutic approach to managing ABPA inflammation. Further studies are needed to better understand the efficacy and safety in the treatment of ABPA in children with CF.
Background:Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a severe hypersensitivity reaction. While aromatic anticonvulsants are common triggers, valproic acid (VPA), a non-aromatic agent, is rarely implicated. Pulmonary involvement further complicates the prognosis.Case Presentation:A 9-year-old girl with cerebral palsy and epilepsy developed DRESS syndrome 4 weeks after VPA initiation. Clinical features included persistent fever, dyspnea, eosinophilia, and hepatitis. During follow-up, she developed a widespread maculopapular rash, respiratory distress, and pleural effusion requiring chest tube drainage. After excluding infectious and autoimmune etiologies, a diagnosis of "probable DRESS syndrome according to the RegiSCAR criteria" was made. Following VPA discontinuation and treatment with systemic corticosteroids and intravenous immunoglobulin, the patient recovered and was discharged after 24 days.Conclusion:VPA-induced DRESS syndrome with simultaneous hepatic and pulmonary involvement is exceptionally rare in children. Clinicians should be alert for DRESS syndrome in pediatric patients on antiepileptics presenting with fever, rash, and multi-organ dysfunction to ensure prompt intervention.
