Szczesniak, RD; Li, D; Su, W; Brokamp, C; Pestian, J; Seid, M; Clancy, JP. Phenotypes of Rapid Cystic Fibrosis Lung Disease Progression during Adolescence and Young Adulthood. American journal of respiratory and critical care medicine. 2017; 196(4):471-478.
Pulmonary decline hallmarks the clinical course of cystic fibrosis. Adolescents and young adults are at particularly high risk for prolonged drops of lung function clinically termed “rapid decline”. We used a national patient registry to identify phenotypes of rapid pulmonary decline. Our article shows key characteristics that can help identify those at risk and when they are at risk. This serves as the first step to tailoring treatments to the needs of cystic fibrosis patients based on the period at which they are at increased risk for rapid decline.
Armoni Domany, K; Hossain, MM; Nava-Guerra, L; Khoo, MC; McConnell, K; Carroll, JL; Xu, Y; DiFrancesco, M; Amin, RS. Cardioventilatory Control in Preterm-born Children and the Risk of Obstructive Sleep Apnea. American journal of respiratory and critical care medicine. 2018; 197(12):1596-1603.
Preterm-born children are three to five times more likely to have obstructive sleep apnea (OSA) during childhood and are at least twice as likely to have OSA as adults compared with children born at full term. We aimed to characterize phenotypes of cardioventilatory control associated with the presence of OSA in preterm-born children during early childhood. Our study presents novel findings that specific phenotypes of cardioventilatory control associate with increased risk for obstructive sleep apnea in preterm-born children and may be predictive of obstructive sleep apnea. These findings could guide personalized care for children at risk of developing OSA.
McCarthy, C; Brewington, JJ; Harkness, B; Clancy, JP; Trapnell, BC. Personalised CFTR pharmacotherapeutic response testing and therapy of cystic fibrosis. The European respiratory journal : official journal of the European Society for Clinical Respiratory Physiology. 2018; 51(6):1702457-1702457.
CFTR modulator drugs can provide significant clinical benefits for patients with cystic fibrosis. As there is a limited use of these drugs to certain patients based on CFTR genotype, patients with rare mutations are frequently ineligible for these benefits. In this manuscript, we describe the use of two nasal-cell-based, individualized preclinical model systems to predict drug response in a subject with a rare CFTR mutation (S1159P). The use of this data assists in procuring patient access to CFTR modulator drugs, which have in turn produced the predicted clinical improvements. This report represents the cutting-edge use of novel model systems to directly impact patient care at the individual level, and opens the door for other individuals with the same CFTR mutation to gain access to therapy.
Boat, TF; Filigno, S; Amin, RS. Wellness for Families of Children With Chronic Health Disorders. JAMA Pediatrics. 2017; 171(9):825-826.
“As families go, so goes the child” is particularly true when a child has a chronic, disabling or life-threatening health disorder. Too often parents of children with these disorders are chronically stressed by care demands, anxiety, financial challenges and other consequences of living with chronic disease. This stress plays out in ways that threaten the physical and mental health of family members including sleep insufficiency, lack of exercise, poor nutrition, and lack of physical energy or mental stamina to carry out daily routines. Care of the child with chronic illness suffers. The chronic care model has not addressed family wellness as an important dimension of patient care, and should commit to learning how to do this in a way that fosters family quality of life and improves patient outcomes.
Guilbert, TW; Colice, G; Grigg, J; van Aalderen, W; Martin, RJ; Israel, E; Postma, DS; Roche, N; Phipatanakul, W; Hillyer, EV; Evans, JM; Dolovich, MB; Price, DB; Respiratory Effectiveness Group. Real-Life Outcomes for Patients with Asthma Prescribed Spacers for Use with Either Extrafine- or Fine-Particle Inhaled Corticosteroids. Journal of Allergy and Clinical Immunology: In Practice. 2017; 5(4):1040-1049.e4.
Many experts and some guidelines recommend the routine use of spacers with pressurized metered-dose inhalers (pMDIs) for asthma to eliminate the need for coordinating inhalation with actuation, but there is no study of real-life effectiveness of adding a spacer. This historical matched cohort study of 2,978 patients with asthma aged 12 to 80 years examined anonymous medical record data over two years for initiating inhaled corticosteroids by pMDI with or without prescribed spacer. We found no evidence in this matched cohort study that spacer devices prescribed with pMDIs for extrafine- or fine-particle inhaled corticosteroids associate with improved outcomes regarding asthma exacerbation rate or incidence of thrush.