The Clinical Utility of Continuous Laryngoscopy During Exercise: A Report of Two Cases.

Exertional dyspnea is a common and disabling symptom in otherwise healthy children and adolescents, as well as in children with baseline airway abnormalities. It impairs the quality of life and may be associated with fatigue and underperformance in sports. Exertional dyspnea can be caused by a wide variety of structural and psychogenic causes. Exercise-induced laryngeal obstruction (EILO) is a relatively prevalent entity in young people that usually presents with exertional stridor, coughing, and dyspnea caused by transient closure of the larynx. In more complex cases where conventional tests such as pulmonary function tests (PFTs), chest imaging, ECG, and echocardiography are unrevealing, continuous laryngoscopy during exercise (CLE) tests may provide diagnostic utility. In addition to the baseline abnormalities visualized by conventional laryngoscopy, CLE can assess dynamic laryngeal responses during exercise. This article describes the clinical characteristics of two pediatric patients with various degrees of laryngeal dysfunction at baseline and the utility of CLE testing in tailoring management strategies.

Pulmonary Manifestations in Adolescents With Inflammatory Bowel Disease.

Objectives. The available literature on pulmonary disease in pediatric inflammatory bowel disease is limited. We evaluated the prevalence of pulmonary manifestations in pediatric inflammatory bowel disease and their association with disease severity. Methods. Patients completed the St. George's Respiratory Questionnaire (SGRQ), a self-reported measure of quality of life in patients with pulmonary disease. Chart review provided demographic information and Pediatric Crohn's Disease Activity Index (PCDAI) and Pediatric Ulcerative Colitis Activity Index scores. Regression models were utilized to evaluate associations between SGRQ score and clinical risk factors. Results. The prevalence of pulmonary manifestations was 9.62% (95% confidence interval = 5.48% to -15.36%). PCDAI scores in Crohn's disease patients with pulmonary symptoms were significantly higher (SGRQ mean = 10.71 ± 10.94) than in patients without such symptoms. SGRQ score was also higher in patients with indeterminate colitis (8.64, 95% confidence interval = 0.72-16.57, P = .03), when compared with Crohn's disease. Conclusions. Additional investigations including pulmonary function tests and imaging could provide further insight into this issue.

Pharmacologic Treatment of Rett Syndrome With Glatiramer Acetate.

BACKGROUND: Rett syndrome (RTT) is a severe neurological disease that primarily affects females. The level of brain derived neurotropic factor (BDNF) expression directly correlates with the severity of RTT related symptoms. Because Glatiramer acetate (GA) stimulates secretion of BDNF in the brain, we conducted the study with the objective to assess its efficacy in improving gait velocity cognition, respiratory function, electroencephalographic findings, and quality of life in patients with RTT. METHODS: Phase two, open label, single center trial. INCLUSION CRITERIA: ambulatory girls with genetically confirmed RTT, 10 years or older. Pre- and post-treatment measures were compared using the non-parametric Wilcoxon signed rank sum test and paired t-tests. RESULTS: Ten patients were enrolled and completed the trial. Gait velocity improved significantly (improvement range 13%-95%, p=0.03 for both tests) and emerged as an especially valuable outcome measure with excellent test- retest reliability of the 2 trials within sessions (intraclass correlation coefficient=0.94). Memory, and the breath holding index also improved significantly (p≤0.03). Epileptiform discharges decreased in all four patients who had them at baseline. There was a trend towards improved quality of life, which did not reach statistical significance. CONCLUSIONS: This prospective open-label trial provides important preliminary information related to the efficacy of GA in improving gait velocity in female patients with RTT who are 10 years or older. The results of this trial justify the need for larger scale controlled trials of GA as well as provide a template for assessing the efficacy of other interventions in RTT.

Severe obstructive sleep apnea in a child with melanocortin-4 receptor deficiency.

Obstructive sleep apnea (OSA) is a highly prevalent medical condition in obese children and is associated with significant neurocognitive, cardiovascular and metabolic derangements. Monogenic forms of obesity resulting from disruption of the leptin-melanocortin pathways have become more notable in recent years and distinguish between various obese phenotypes. However, the association of such disorders with OSA is not well established in children or adults. In this report, we describe a 23-month-old female with morbid obesity and OSA, who was found to carry a defect in the melanocortin-4 receptor (MC4R) pathway. This report emphasizes the genetic basis of obesity related to MC4R deficiency and OSA in children.