Racial identification represents significant risk factor for healthcare disparity among patients with severe bronchopulmonary dysplasia treated with tracheostomy.

OBJECTIVES: To characterize the patient population with severe bronchopulmonary dysplasia (BPD) requiring tracheostomy in a large tertiary level 4 neonatal intensive care unit (NICU) and to identify potential targets for improvement in the delivery of high-quality healthcare. METHODS: An IRB-exempt but IRB-registered retrospective review of medical records. Study inclusion criteria: patients treated for severe BPD with tracheostomy under 2 years of age in our tertiary referral center NICU. Control group criteria: 4-year aggregate NICU patient demographics. Basic demographics, maternal history, clinical data points, and outcomes variables were collected. RESULTS: There was a statistically significant difference between the two groups in only one variable: racial identification (p-value = 0.036). All data points were then analyzed against racial identification, and statistically significant differences appeared in 4 categories: 1) illicit drug use, 2) birth head circumference and length, 3) days to readmission, and 4) child opportunity index scores. There was not a statistically significant difference in any other maternal characteristics or medical comorbidities, NICU length of stay, age at tracheostomy, or decannulation status. CONCLUSION: The incidence of our tracheostomy in infants with severe BPD was significantly higher (p = 0.036) in the subjects whose families identified as racially African American or Black, a marked contrast to our general NICU population and our overall tracheostomy population. The timing of the first readmission to the hospital was shorter for Caucasian or White infants compared to African American or Black infants. COI demonstrated statistically significantly poorer resources for African American or Black infants compared to White infants with tracheostomy. All other perinatal and outcome measurements did not differ significantly between the two racial groups. This suggests that this racial disparity is present and needs further investigation to better assess its impact on risk and outcomes as we develop pathways for high-quality healthcare delivery.

Bronchopulmonary dysplasia requiring tracheostomy: A review of management and outcomes.

Bronchopulmonary Dysplasia (BPD) is a pulmonary disease affecting newborns, commonly those with prematurity or low birth weight. Its pathogenesis involves underdevelopment of lung tissue with subsequent limitations in ventilation and oxygenation, resulting in impaired postnatal alveolarization. Despite advances in care with improved survival, BPD remains a prevalent comorbidity of prematurity. In severe cases, management may involve mechanical ventilation via tracheostomy. BPD's demand for multidisciplinary care compounds the challenges in management of this condition. Here, we review existing literature: the history of disease, criteria for diagnosis, pathogenesis, and modes of treatment with a focus on the severe subtype: that which is associated with pulmonary hypertension (PAH) for which tracheostomy is often required to facilitate long-term mechanical ventilation. We review the current recommendations for tracheostomy and decannulation.

Cardiac Collapse Secondary to Phenytoin Toxicity in a Neonate Treated with Extracorporeal Membrane Oxygenation Support (ECMO).

INTRODUCTION: Although medication toxicity is uncommon in neonates, there are several medications used in this population that pose a risk. Phenytoin has an increased risk of toxicity given its narrow therapeutic window and variations in drug elimination. CASE REPORT: We describe the case of a 3-day-old male infant who developed cardiovascular collapse secondary to severe phenytoin toxicity (max phenytoin level 86 µg/mL) and was placed on extracorporeal membrane oxygenation support (ECMO). Several ancillary treatments were utilized in an attempt to decrease serum phenytoin concentrations and limit toxicity including albumin boluses, phenobarbital administration, intravenous lipid infusion, and folic acid supplementation. DISCUSSION: Although uncommon, drug toxicity should be considered in patients with acute changes who are exposed to medications with potential toxicity. With elevated levels of phenytoin, the half-life can be prolonged resulting in longer exposure to elevated levels of the drug as seen in our patient. This case report highlights the importance of ECMO utilization for cardiac support in neonates with medication toxicity and other potential ancillary treatments to decrease serum phenytoin concentrations.

Ventricular fibrillation in a patient with Pompe disease: a cautionary tale.

Pompe disease is a rare genetic disorder resulting from a deficiency of the acid α-glucosidase enzyme. Although arrhythmias occur in these patients undergoing general anesthesia, they have not received sufficient emphasis in pediatric cardiology. We report a case of an infant with Pompe disease who experienced ventricular fibrillation during induction of anesthesia.

Survival of a Newborn with 2:1 Atrioventricular Block, Long QT Syndrome, and Torsades de Pointes.

Long QT syndrome is a rare disorder that can manifest as syncope, Torsades de Pointes, or sudden cardiac death. We report a newborn with asymptomatic bradycardia, 2:1 atrioventricular block, long QT syndrome, and episodes of Torsades de Pointes. The patient was managed with mexiletine and propranolol and continued to have episodes of Torsades de Pointes, so she underwent epicardial pacemaker implantation. No further episodes of Torsades de Pointes were noted prior to discharge.

Precise prenatal diagnosis of tuberous sclerosis by sequencing the TSC2 gene.

BACKGROUND: The presumptive prenatal diagnosis of tuberous sclerosis (TSC) previously depended upon fetal imaging. Cloning of the two TSC genes (TSC1 and TSC2) now enables precise molecular diagnosis by gene sequencing. We used this approach for the prenatal diagnosis of a fetus showing multiple intracardiac tumors. METHODS: DNA extracted from cultivated amniotic fluid cells underwent sequencing of all coding regions and exon-intron boundaries of the TSC1 and TSC2 genes. RESULTS: A mutation (R611Q) was found in exon 16 of the TSC2 gene. Thus far, neither clinically unaffected parents has provided blood samples for mutation analysis. CONCLUSION: For the first time, mutation analysis of a TSC gene enabled a precise prenatal diagnosis.