Faculty Bibliography

BACKGROUND:New York (NY) State implemented a new cystic fibrosis (CF) newborn screen (NBS) algorithm in December 2017 with improvement in positive predictive value and unanticipated increased identification of infants with cystic fibrosis transmembrane conductance regulator (CFTR)-related metabolic syndrome (CRMS). Repeat sweat testing is recommended in infants with CRMS. During the COVID-19 pandemic infants with CRMS were lost to follow up. With this quality improvement (QI) initiative, we aimed to perform repeat sweat testing in 25% of infants lost to follow up. We also describe consensus recommendations for CRMS from the NY CF NBS Consortium. METHODS:Our QI team identified the primary drivers contributing to absent follow up, outreached to families, and created a questionnaire to evaluate parental understanding of CRMS using QI-based strategies. RESULTS:Of 350 infants diagnosed with CRMS during the study period, 179 (51.1%) infants were lost to follow up. A total of 31 (17.3%) were scheduled for repeat sweat tests and followed up at CF Centers. Families reported high satisfaction with the CRMS knowledge questionnaire. CONCLUSIONS:With this QI-based approach, we effectively recaptured infants with CRMS previously lost to follow up during the COVID-19 pandemic. Ongoing concerns about infection risk and lack of understanding on the part of families and pediatricians likely contributed to patients with CRMS lost to follow up. Consensus recommendations for CRMS include annual visits with repeat sweat testing until 2-6 years of age and education for adolescents about clinical and reproductive implications of CRMS.

Pediatric lung transplantation for pulmonary vascular diseases has seen notable advancements and trends. Medical therapies, surgical options, and bridging techniques like extracorporeal membrane oxygenation and different forms of transplants have expanded treatment possibilities. Current challenges include ensuring patient adherence to post-transplant therapies, addressing complications like primary graft dysfunction and rejection, and conducting further research in less common conditions like pulmonary veno-occlusive disease and pulmonary vein stenosis. In this review article, the authors will explore the advancements, emerging trends, and persistent challenges in pediatric lung transplantation for pulmonary vascular diseases.

BACKGROUND:Tracheobronchomalacia (TBM) is characterized by excessive dynamic airway collapse. Severe TBM can be associated with substantial morbidity. Children with secondary TBM associated with esophageal atresia/tracheoesophageal fistula (EA/TEF) and vascular-related airway compression (VRAC) demonstrate clinical improvement following airway pexy surgery. It is unclear if children with severe primary TBM, without secondary etiologies (EA/TEF, vascular ring, intrinsic pulmonary pathology, or complex cardiac disease) demonstrate clinical improvement following airway pexy surgery. MATERIALS AND METHODS/METHODS:The study cohort consisted of 73 children with severe primary TBM who underwent airway pexy surgery between 2013 and 2020 at Boston Children's Hospital. Pre- and postoperative symptoms as well as bronchoscopic findings were compared with Fisher exact test for categorical data and Student's t-test for continuous data. RESULTS:Statistically significant improvements in clinical symptoms were observed, including cough, noisy breathing, prolonged respiratory infections, pneumonias, exercise intolerance, cyanotic spells, brief resolved unexplained events (BRUE), and noninvasive positive pressure ventilation (NIPPV) dependence. No significant differences were seen regarding oxygen dependence, ventilator dependence, or respiratory distress requiring NIPPV. Comparison of pre- and postoperative dynamic bronchoscopy findings revealed statistically significant improvement in the percent of airway collapse in all anatomic locations except at the level of the upper trachea (usually not malacic). Despite some initial improvements, 21 (29%) patients remained symptomatic and underwent additional airway pexies with improvement in symptoms. CONCLUSION/CONCLUSIONS:Airway pexy surgery resulted in significant improvement in clinical symptoms and bronchoscopic findings for children with severe primary TBM; however, future prospective and long-term studies are needed to confirm this benefit.

Meconium ileus (MI) is one presenting manifestation of Cystic Fibrosis (CF), classically associated with class I-III CF transmembrane conductance regulator (CFTR) mutations and pancreatic insufficiency (PI). D1152H is a class IV mutation that corresponds with a milder CF phenotype and pancreatic sufficiency (PS). We present the case of an infant with G542X/D1152H mutations and MI who required surgical intervention with small bowel resection. The sweat testing was normal, and this child presently remains PS, however at age 5 continues to experience short gut syndrome and failure to thrive. Eight cases were identified in the CF Registry and seven cases in the literature describing patients with D1152H and echogenic bowel (EB) or MI. Our case highlights the importance of CFTR gene sequencing in infants with EB or MI and sweat testing not suggestive of CF. It is our practice to perform full CFTR gene sequencing for infants who present with MI, recognizing protocols for newborn screening across the United States vary. Increased awareness of D1152H association with PS may also well inform both prenatal and postnatal genetic counseling.

PURPOSE/OBJECTIVE:Remote patient monitoring (RPM) is a tool for patients to share data collected outside of office visits. RPM uses technology and the digital transmission of data to inform clinician decision-making in patient care. Using RPM to track routine physical activity is feasible to operationalize, given contemporary consumer-grade devices that can sync to the electronic health record. Objective monitoring through RPM can be more reliable than patient self-reporting for physical activity. DESIGN AND METHODS/METHODS:This article reports on four pilot studies that highlight the utility and practicality of RPM for physical activity monitoring in outpatient clinical care. Settings include endocrinology, cardiology, neurology, and pulmonology settings. RESULTS:The four pilot use cases discussed demonstrate how RPM is utilized to monitor physical activity, a shift that has broad implications for prediction, prevention, diagnosis, and management of chronic disease and rehabilitation progress. CLINICAL RELEVANCE/CONCLUSIONS:If RPM for physical activity is to be expanded, it will be important to consider that certain populations may face challenges when accessing digital health services. CONCLUSION/CONCLUSIONS:RPM technology provides an opportunity for clinicians to obtain objective feedback for monitoring progress of patients in rehabilitation settings. Nurses working in rehabilitation settings may need to provide additional patient education and support to improve uptake.

Electronic (e)-cigarette use and the practice of vaping has rapidly expanded both in adult smokers and previously nicotine naïve youths. Research has focused on harm reduction in adults using e-cigarettes to stop or reduce traditional cigarette use, but the short and long-term safety of these products has not been established. Vaping has more recently been associated with a growing list of pulmonary complications with the most urgent being the e-cigarette or vaping product use-associated lung injury (EVALI) epidemic. This review details the inhalant toxicology of vaping products, the described lung diseases associated with vaping with a focus on EVALI, and the predicted long-term consequences of e-cigarette use, including increased asthma severity.

A 17-year-old female who presented with cough, chest pain, dyspnea, and hemoptysis was found to have an intrathoracic rib. Patients who are diagnosed with intrathoracic ribs are most often asymptomatic and should undergo limited diagnostic workup. Intrathoracic ribs are rare congenital anomalies incidentally identified after chest radiography performed for another indication, as is the case with this patient. In this case, further evaluation was necessary due to persistent symptoms. Here, we used contrast-enhanced ultrasound after chest radiography and computed tomography to further evaluate the fatty intrathoracic mass and exclude vascular features suggestive of a tumor.

BACKGROUND:Knock-out of serotonin re-uptake transporters (SERT) or use of selective serotonin re-uptake inhibitors (SSRIs) potentiates enteric serotonin (5-HT) signaling and stimulates enterocyte proliferation. We hypothesized that increased serotonin signaling would mitigate epithelial injury from intestinal ischemia and reperfusion (I/R). METHODS:Mice lacking SERT (SERTKO mice) and wild-type littermates (WTLM) were subjected to intestinal ischemia by superior mesenteric artery (SMA) occlusion. At intervals post-laparotomy with or without ischemia, ileum was harvested and prepared for staining. A WTLM subgroup treated with SSRI after SMA occlusion followed by reperfusion was also sacrificed and analyzed. Mucosal injury was scored, percentage of injured villi calculated, and enterocyte proliferation measured. Lastly, staining for enterocytes, enteroendocrine cells, and goblet cells, villus epithelial cellular make-up was investigated at baseline and 14 days after injury. Measurements were compared between groups using t test and chi-squared test. KEY RESULTS:Mucosal injury after I/R was significantly decreased in SERTKO and SSRI-treated mice compared to WTLM at all intervals except baseline. Enterocyte proliferation was greater in SERTKO and SSRI-treated mice without alteration in cellular composition along villi (P > 0.05). CONCLUSIONS AND INFERENCES:Potentiation of 5-HT signaling is associated with mucosal protection from intestinal I/R injury without alterations in villus cell distribution, possibly via increased rates of enterocyte renewal.