Joe DiMaggio Children's Hospital

This review outlines current interventional radiology literature for managing pediatric musculoskeletal conditions-specifically bone cysts, bone tumors, and pain management. With the advancements in regenerative bone grafts, ablative techniques and increased awareness from referring physicians, there has been a gradual shift from open surgical techniques to minimally invasive, image-guided procedures in the management of certain pediatric musculoskeletal conditions.

Nephropathic cystinosis is a rare lysosomal storage disorder characterized by cellular cystine accumulation and progressive multiorgan damage. Before advances in diagnostics, transplantation, and disease-modifying therapy, cystinosis was considered a fatal pediatric disease, with most patients reaching kidney failure by approximately 10 years of age. Life expectancy has now expanded into the 50s and beyond, and the disease has been transformed into a chronic condition with a predominantly extrarenal phenotype in adulthood. Traditionally, nephrologists have played a central role as cystinosis “care quarterbacks” in pediatric settings, and patients often expect this to continue after transitioning to adult care. As such, nephrologists are increasingly tasked with monitoring for and addressing complications in organs other than the kidneys, in addition to coordinating referrals to clinicians within the nephrology clinic (e.g., nurses, advanced practice providers, pharmacists, dietitians, social workers, care coordinators, and transplant specialists) and across multiple specialties (e.g., neurologists, gastroenterologists, endocrinologists, ophthalmologists, and orthopedists). Although recently published expert guidance offers recommendations for the multidisciplinary management of cystinosis, gaps in the literature exist around strategies to reduce care fragmentation, overcome collaboration challenges, and enhance patient/family and clinician experiences. This review aimed to explore various approaches for care delivery optimization across the lifespan of patients with cystinosis as well as improve the current understanding of disease-, patient-, provider-, and system-related factors that influence treatment adherence, engagement, and long-term outcomes.

Background:Nontuberculous mycobacterial pulmonary disease (NTM-PD) is a chronic lung infection associated with persistent respiratory symptoms and diminished health-related quality of life (HRQoL). As with other chronic conditions, increased levels of anxiety and depression can impact prognosis and HRQoL.Objectives:To describe the prevalence of anxiety and depression and to identify HRQoL domains that are correlated with mental health in patients with NTM-PD.Design:A cross-sectional observational study of adults with self-reported or clinically confirmed NTM-PD.Methods:Participants with NTM-PD enrolled in two studies (n = 40 interview + surveys and n = 230 completing electronic surveys only) at four U.S. sites. Inclusion criteria were age >18 years, English-speaking, and U.S. residence. In-person enrolled participants met ATS/IDSA criteria and had symptom documentation in medical records; remotely enrolled participants self-reported NTM-PD and symptoms. Data collected included demographics, GAD-7 and PHQ-8 (anxiety and depression screening, respectively), QOL-B Respiratory Symptoms Scale (RSS), selected PROMIS short forms (Fatigue 7a, Cognitive Function 6a, Sleep Disturbance 4a), and Patient Global Impression of Severity of NTM-PD symptoms (PGIS). Interview-only participants completed the GAD-7, PHQ-8, QOL-B RSS, and were evaluated for cognitive functioning using the computerized Symbol Digit Modalities Test (oral version).Results:The study population was predominantly female (57%/91% in the interview/survey studies, respectively) and aged >65 years (50%/77.4%). Overall, 18%/14% screened positive for anxiety and 32%/18% for depression. Participants screening positive for anxiety or depression had significantly lower QOL-B RSS, cognitive function, and sleep scores, and higher fatigue. Fatigue showed the strongest correlation with mental health outcomes, particularly with those screening positive for depression (ρ = 0.644, p < 0.05).Conclusion:Mental health symptoms are strongly correlated with worse HRQoL outcomes in NTM-PD. These findings underscore the need for the implementation of routine mental health screening and interventions in NTM-PD care.

Studies suggest that everolimus may reduce the risk of rejection, cardiac allograft vasculopathy (CAV), chronic kidney disease (CKD), and cytomegalovirus (CMV) after heart transplant. Everolimus use is controversial because of data demonstrating higher infection deaths when everolimus is introduced de novo after transplant. It is unclear whether everolimus is safe and effective when initiated at 6 months posttransplant in children, a population in which median graft survival is limited to 15 years and randomized clinical trials are lacking. To evaluate the safety and efficacy of everolimus combined with low-dose tacrolimus to prevent major adverse transplant events (MATEs) in children after heart transplant. Multicenter, randomized, open-label, clinical trial enrolling 211 patients who were alive 6 months after pediatric heart transplant at 25 US sites from February 2018 to August 2020. The last date of follow-up was April 17, 2023. Participants were randomized to receive everolimus and low-dose tacrolimus (n = 107) or standard-dose tacrolimus and mycophenolate mofetil (n = 104) for 30 months. The primary efficacy end point was the MATE-3 score at 30 months, a validated composite ordinal end point including acute cellular rejection, CAV, and CKD. The primary safety end point was the MATE-6 score, encompassing the MATE-3 score plus antibody-mediated rejection, infection, and posttransplant lymphoproliferative disorder. Among 211 children randomized, the mean age was 8.2 (SD, 6.3) years, 97 (46%) underwent transplant for congenital heart disease, and 49 (23%) were treated for rejection before 6 months. At 30 months, the mean MATE-3 score did not differ between the 2 treatment groups (mean difference, -0.32; 95% CI, -0.90 to 0.20; P = .16). The mean MATE-6 score was no higher in the everolimus group than in the mycophenolate group (baseline-adjusted mean difference, -0.40; 95% CI, -1.81 to 0.93), meeting the success criterion for safety (noninferiority margin <3). There were no differences in graft survival, MATE-free survival, or freedom from any individual MATE. Everolimus was associated with greater improvement in estimated glomerular filtration rate at 12 months (mean difference, 10.5 mL/min/1.73 m2; 95% CI, 1.09-19.91 mL/min/1.73 m2) and a lower incidence of CMV infection (hazard ratio, 0.50; 95% CI, 0.26-0.93). Among 6-month pediatric heart transplant survivors, everolimus and low-dose tacrolimus did not differ from tacrolimus and mycophenolate in preventing the composite of cellular rejection, CAV, and CKD at 30 months. However, everolimus and low-dose tacrolimus appear to be safe based on the total burden of 6 MATEs and may be associated with improved kidney function and less CMV infection. ClinicalTrials.gov Identifier: NCT03386539.

BackgroundAlthough adverse events (AEs) are common during congenital cardiac catheterization procedures, many have little impact beyond the catheterization laboratory. We sought to identify factors that are associated with an increased length of stay (LOS).MethodsA total of 10,882 cases from the C3PO-quality improvement registry dataset from January 2014 to December 2017 admitted electively on the same day of cardiac catheterization were analyzed and independent risk factors for a prolongation of LOS were identified.ResultsLength of stay ranged from 0 to 305 days. The incidence of higher severity AE was significantly higher for cases that had a hospital stay of 2 days or more, compared to those discharged the same day or day 1 after the procedure (15% vs 2%, P < .001). Seven percent of patients without any AE in the cardiac catheterization laboratory had a prolonged LOS of 2 days or more. Significant independent risk factors for a prolongation of LOS included age <1 year, single ventricle diagnosis, cardiac surgery within the last 90 days, a higher hemodynamic vulnerability score, a higher PREDIC3T risk category, a prolonged procedure time, contrast usage >6 mL/kg, operators experience of either <5 or ≥25 years, and operator case volume >200 cases/y. The presence of any level 3bc, 4, or 5 AE had the highest associated odds of an increased LOS (OR, 5.9; 95% CI, 4.6-7.6).ConclusionsProlonged admission after outpatient catheterization is a potential alternative measure of safety after pediatric or congenital cardiac catheterization. It is independently associated not only with patient, procedure, and operator factors that have previously been described to be associated with the risk of AE but also with other factors such as the presence of single ventricle physiology. Further studies are needed to further evaluate its utility.

This case is that of a two-day-old male patient born full term with no pertinent history who presented with excess nasal secretions, feeding difficulty, respiratory distress, and hypoxemia requiring intubation. He was found to have an obstructive, polypoid mass in the nasopharynx on fiberoptic flexible laryngoscopy. Magnetic resonance imaging (MRI) of the brain and neck revealed an ovoid, circumscribed, peripherally enhancing mass in the posterior nasopharynx and oral cavity measuring 2.1 x 1.7 x 2.0 cm. The mass was excised endoscopically, and the patient tolerated extubation with immediate resolution of hypoxemia and feeding difficulty. Pathology of the mass was consistent with benign glioneuronal heterotopia, confirmed via glial fibrillary acidic protein (GFAP) staining. Histology was consistent with multiple cell types, including respiratory mucosa, squamous-type mucosa, seromucous glands, and keratin-filled cysts. Gliomas such as the one found to be the cause of this patient’s respiratory failure are locally aggressive, usually congenital lesions. Differential diagnosis for a congenital midline nasal mass should further include dermoid cysts, encephaloceles, neurogenic tumors, and teratomas. Evaluation of such a mass must include imaging to rule out cranial extension prior to further intervention. This case serves to further broaden the understanding of congenital anomalies as an etiology for respiratory distress in the newborn period, with an emphasis on nasopharyngeal masses and, more specifically, heterotopic nasopharyngeal glioneuromas.