Heterogeneity of lung disease associated with NK2 homeobox 1 mutations.

We retrospectively studied the clinical presentation, treatment modalities and outcome in 16 patients with heterozygous NKX2-1 mutation associated with chronic lung disease. Twelve different NKX2-1 mutations, including 4 novel mutations, were identified in the 16 patients. Nine patients presented with brain-lung-thyroid syndrome, 3 had neurological and lung symptoms and 4 had only pulmonary symptoms. Ten patients had neonatal respiratory distress, and 6 of them developed infiltrative lung disease (ILD). The other patients were diagnosed with ILD in childhood (n = 3) or in adulthood (n = 3). The median age at diagnosis was 36 months (IQ 3.5-95). Patient testing included HRCT (n = 13), BALF analysis (n = 6), lung biopsies (n = 3) and lung function tests (n = 6). Six patients required supplemental oxygen support with a median duration of 18 months (IQ 2.5-29). All symptomatic ILD patients (n = 12) benefited from a treatment consisting of steroids, azithromycin (n = 9), and/or hydroxychloroquine (n = 4). The median follow-up was 36 months (IQ 24-71.5). One patient died of respiratory failure at 18 months and another is waiting for lung transplantation. In summary, the initial diagnosis was based on clinical presentation and radiological features, but the presentation was heterogeneous. Definitive diagnosis required genetic analysis, which should be performed, even in absence of neurological or thyroid symptoms.

Medical hypnosis as a tool to acclimatize children to noninvasive positive pressure ventilation: a pilot study.

BACKGROUND: Patient cooperation is crucial for the success of noninvasive positive pressure ventilation (NPPV). This study evaluated the efficacy of medical hypnosis to reduce anticipatory anxiety and acclimatization time in children who are candidates for long-term NPPV. METHODS: Medical hypnosis was performed by a trained nurse. The acclimatization time and long-term compliance with NPPV were evaluated. RESULTS: Hypnosis was performed in nine children aged 2 to 15 years. Seven children had a high level of anticipatory anxiety because of a tracheotomy since birth (n=2), a history of maxillofacial surgery (n=2), severe dyspnea because of lung disease (n=2), and morbid obesity and depression (n=1), and two children with obstructive sleep apnea failed standard NPPV initiation. The hypnosis techniques were based on distraction in the youngest patient and indirect or direct hypnotic suggestions in the older children to obtain a progressive psychocorporal relaxation. All patients accepted the interface and the NPPV after the first hypnosis session. A median of three sessions was needed for overnight (>6 h) NPPV acceptance. The 6-month compliance with NPPV was excellent, with a median use of 7.5 h per night. CONCLUSION: Medical hypnosis is an effective, safe, noninvasive, and inexpensive tool for reducing the anticipatory distress and acclimatization time for NPPV. This therapy is particularly useful in children with traumatic experiences, such as a tracheotomy or facial surgical procedures.

Nocturnal mouthpiece ventilation and medical hypnosis to treat severe obstructive sleep apnea in a child with cherubism.

A 4-year old boy presented severe obstructive sleep apnoea due to complete nasal obstruction secondary to cherubism. Because of anticipatory anxiety due to numerous surgical interventions, medical hypnosis was proposed to facilitate non-invasive continuous positive pressure ventilation (CPAP) acceptance. CPAP by means of an oral interface was completely accepted after three hypnosis sessions and resulted in the correction of his obstructive sleep apnea (OSA) syndrome. This report highlights the benefit of medical hypnosis in facilitating CPAP acceptance as well as the efficacy of mouthpiece ventilation in a severe form of cherubism with complete nasal obstruction.

Quantitative lung perfusion scan as a predictor of aerosol distribution heterogeneity and disease severity in children with cystic fibrosis.

BACKGROUND: The assessment of lung ventilation by radionuclide imaging has proved useful for the optimization of aerosol therapy in children with cystic fibrosis. Further analysis of lung perfusion may provide additional information. METHODS: Quantitative analysis of regional lung aerosol distribution (Tc phytates) and perfusion (Tc macroaggregates) homogeneity was performed in 18 children with cystic fibrosis, using the third and fourth spatial moments (skew and Kurtosis) of count distribution. Patients were chosen from a prospective study whose goal was to compare the efficacy of two nebulization methods of a radiolabelled aerosol: one session involved a nebulizer activated by patient inspiratory flow (control session), whereas the other involved a nebulizer powered by a pressure support device (PS session). RESULTS: Quantitative regional distribution of perfusion was similar to aerosol distribution, although skew and Kurtosis were lower, indicating better homogeneity. Perfusion skew was inversely correlated with pulmonary volumes and Shwachman score, even more significantly than ventilation skew. Using receiver operating characteristic curve analysis, a perfusion skew threshold of 0.67 was predictive of disease severity (FEV1 > or =60% or FEV1 <60%) with 86% sensitivity and 91% specificity. Furthermore, same skew threshold allowed the identification of patients who were 'PS responders' (greater amount of radioactivity deposited after the PS session) or 'PS non-responders' with 80% sensitivity and 77% specificity. CONCLUSION: Quantification of regional lung perfusion is easy to perform and heterogeneity of the distribution is closely correlated to disease severity. Moreover, perfusion skew can identify patients who are likely to benefit from pressure support (to optimize aerosol therapy) and may be helpful for orienting potential non-responders towards alternative therapies.