[Adolescents with cystic fibrosis: the approach to transition from paediatric to adult care]. / Transition enfant-adulte au cours de la mucoviscidose.

Because of early and effective therapies, an increasing numbers of young people with cystic fibrosis (CF) reach adulthood. Preparing for and maintaining high quality CF care in the adult healthcare is critical for prolonged survival. Because adverse health consequences occur when inadequate transition arrangements are in place, safely transferring patients from pediatric to adult care is a priority. Key features include an early preparation, planning and self-management skills, a coordinated approach and a detailed communication between patients, families, pediatric and adult teams. Formal transition protocols and audits can support the process and be helpful for multidisciplinary teams.

[The congenital central hypoventilation syndrome (CCHS): a late presentation]. / Le syndrome d'hypoventilation alvéolaire central congénital (CCHS): un cas de révélation tardive.

BACKGROUND: The congenital central hypoventilation syndrome (CCHS) or Ondine's curse is a rare autosomal dominant disease, characterized by disorders of the autonomic nervous system, with abnormal ventilatory responses to hypercapnia and hypoxia. PHOX2B has been identified as the major gene causing CCHS. It results from polyalanine repeat expansion mutations. It typically presents in the newborn period but some cases have been described in adults (late onset CCHS) reflecting the variable penetrance of PHOX2B mutations. CASE REPORT: A 48 year-old woman presented, after ovarian cyst surgery, with severe hypoventilation requiring intubation. Arterial blood gases revealed a PaO2 of 6.6kPa (50mmHg), a PaCO2 of 10kPa (80mmHg) and a pH of 7.22. The past medical history revealed nocturnal symptoms for a few years. These included apnoeas, fitful sleep and awakening with headaches. Physical examination, pulmonary function tests, lung tomography and magnetic resonance imaging of the brainstem were all normal. Polysomnography revealed numerous central and obstructive apnoeas and hypopnoeas, with severe hypoxaemia and hypercapnia. Hypoxic and hypercapnic stimulation tests showed no adaptation of the ventilatory responses. Genetic analysis showed a heterozygous five alanine expansion mutation of the 20-residue polyalanine tract in exon 3 of the PHOX2B gene. CONCLUSION: The diagnosis of late onset CCHS should be considered in patients with unexplained hypoventilation, and physiological evaluation should be undertaken to document the abnormal ventilatory responses. The presence of a PHOX2B mutation confirms the diagnosis.

Fatal dissection of the pulmonary artery in pulmonary arterial hypertension.

A 41-yr-old patient with chronic stable idiopathic pulmonary arterial hypertension (PAH) presented with sudden chest pain and unusual dyspnoea during physical exertion. The patient had been diagnosed with PAH at the age of 12 yrs and was in New York Heart Association functional class I/II. The patient was being treated with an anticoagulant regimen, low-dose diuretics and continuous intravenous epoprostenol therapy. A computed tomography scan showed ancient massive thrombi in dilated central pulmonary arteries, which were not haemodynamically significant (perfusion lung scans did not demonstrate segmental or larger defects), and extensive dissection of the right pulmonary artery starting from the intermediate branch. Due to the extensiveness of the dissection, the patient was immediately considered for heart-lung transplantation, but died 72 h after the onset of symptoms. Permission for post mortem examination was denied. Pulmonary artery dissection should be suspected in PAH patients presenting with chest pain and worsening dyspnoea. In the current case, the factors possibly associated with increased risk for dissection may include dilatation of the pulmonary artery, local inflammation favoured by in situ thrombosis, and acute increase of pulmonary pressure secondary to physical exertion. Extensive pulmonary artery dissection is a life-threatening complication of PAH, and urgent heart/lung transplantation might be the treatment of choice in eligible patients. In addition, better identification of the risk factors for pulmonary artery dissection may help in considering transplantation for selected patients at risk.

Nasal nitric oxide, the guardian of paranasal sinuses, is paradoxically increased by high doses of intravenous glucocorticoids.

BACKGROUND: High concentrations of nitric oxide (NO) originating from a type-2 nitric oxide synthase (NOS2) located within the paranasal sinuses are measured in nasal air in man. NO is believed to play a central role in nonspecific defense of paranasal sinuses. Glucocorticoids (GCs), a therapeutic often used for a wide range of diseases, is known to strongly downregulate NOS2. AIMS OF THE STUDY: To investigate the effect of very high intravenous doses of GCs on nasal NO in man. METHODS: Nasal NO was measured in 15 patients without any history of allergy or chronic airway disorder who were treated for 3 days with a daily dose of 1000 mg methylprednisolone for an exacerbation of multiple sclerosis. Nasal NO was also measured in 30 matched control subjects. RESULTS: In control subjects, the maximal value of nasal NO [mean (SE)] was 233 (8) part per billion (ppb), and did not differ from patients with multiple sclerosis [maximum value: 219 (13) ppb; left nostril: 214 (12) ppb; right nostril: 215 (12) ppb]. After GCs treatment, nasal NO increased in patients [maximum value: 250 (13) ppb (P < 0.0001); left nostril: 249 (12) ppb (P < 0.0001); right nostril: 244 (13) ppb (P < 0.0001)]. CONCLUSIONS: We conclude that GCs do not decrease but even increase nasal NO.

[Sport and atopy]. / Sport et atopie.

INTRODUCTION: The atopic diseases, asthma, allergic rhinitis and atopic dermatitis, are common in children, adolescents and young adults. They may have important consequences on physical exercise, especially asthma. STATE OF ART: Elite athletes have been observed to have a high prevalence of asthma (and perhaps also rhinitis). The reasons for this observation are still debated, but different mechanisms linked to the intensity of physical activity in athletes are probably involved. Exercise-induced symptoms should be confirmed not only from the clinical history but also by objective measurements of lung function. In elite athletes confirmation of exercise-induced asthma might be difficult and may require special diagnostic tests such as bronchial provocation by eucapnic voluntary hyperventilation. Several drugs are effective in exercise-induced prevention of nasal and bronchial symptoms. Therapeutic approaches for atopic diseases in international guidelines (GINA and ARIA) are generally compatible with anti-doping laws but require compliance with specific prescription rules. PERSPECTIVES: A better understanding of mechanisms and risk factors involved in the increase of asthma prevalence in elite athletes may permit prevention by modifying training conditions during exercise. CONCLUSIONS: Atopic diseases are common in athletes. They require special therapeutic considerations. The increasing prevalence of respiratory asthma-like symptoms in elite athlete is opening new paths for research into airway physiology in extreme conditions.

[Complementary tests in respiratory allergy]. / Les examens complémentaires en allergie respiratoire.

Several complementary tests are currently available for the diagnosis and evaluation of allergic respiratory disease. Besides the classic skin prick tests which have been standardized, a number of assay methods have been developed for specific IgEs and different mediators as well as multiple tests for allergy screening. In the near future, several techniques for measuring allergens in the environment should become available for physicians and patients. The purpose of this review is to present the different complementary tests useful in respiratory allergy defining the contribution of each test in the management of patients with allergic disease.