Non-classic cystic fibrosis associated with D1152H CFTR mutation.

BACKGROUND: Limited knowledge exists on phenotypes associated with the D1152H cystic fibrosis transmembrane conductance regulator (CFTR) mutation. METHODS: Subjects with a D1152H allele in trans with another CFTR mutation were identified using the French Cystic Fibrosis Registry. Phenotypic characteristics were compared with those of pancreatic insufficient (PI) and pancreatic sufficient (PS) cystic fibrosis (CF) subjects in the Registry (CF cohort). RESULTS: Forty-two subjects with D1152H alleles were identified. Features leading to diagnosis included chronic sinopulmonary disease (n = 25), congenital absence of the vas deferens (n = 11), systematic neonatal screening (n = 4), and genetic counseling (n = 2). Median age at diagnosis was 33 [interquartile range (IQR, 24-41)] years in D1152H subjects. Median sweat chloride concentrations were 43.5 (39-63) mmol/l in D1152H subjects and were markedly lower than in PI and PS CF subjects (p < 0.05). Bronchiectasis was present in 67% of D1152H subjects, but Pseudomonas aeruginosa colonization and pancreatic insufficiency were present in <30% of subjects. Estimated rates of decline in forced expiratory volume in 1 s (FEV(1)) were lower in D1152H subjects vs PI CF subjects (p < 0.05). None of the D1152H subjects identified since 1999 had died or required lung transplantation. CONCLUSIONS: When present in trans with a CF-causing mutation, D1152H causes significant pulmonary disease, but all subjects had prolonged survival.

[Pulmonary deposition of colistin aerosols in cystic fibrosis. Comparison of an ultrasonic nebulizer and a pneumatic nebulizer]. / Déposition pulmonaire des aérosols de colistine dans la mucoviscidose. Comparaison d'un nébuliseur ultra sonique et d'un nébuliseur pneumatique.

The objective of this study was to quantify the deposition in the lung of a Colistine aerosol generated using a pneumatic nebuliser (Pari LL(R) equipped with a Pari Master, Pari, Germany) and to compare this with the results obtained with an ultrasonic nebuliser (DP100, DP Medical, France) in four subjects suffering from cystic fibrosis being colonised with Pseudomonas aeruginosa. To quantify the pulmonary deposition of the aerosols we have used an indirect isotopic method which consists in assimilating the kinetics of the molecules studied with a serum albumin tagged with Technetium 99m (Tc99mm) and added to a preparation of Colistine. We have previously verified that the addition of a radioactive tracer does not change the normal distribution or dynamics of the medication within the aerosol and the radioactive counter linked to the tracer reflects the mass of the medicament. The pulmonary deposition was expressed as a percentage of the nebuliser dose. A regional analysis of the deposition (central, peripheral, superior and inferior) was carried out and in central deposition compared to the periphery (C/P) and superior compared to inferior (S/I) were calculated. With the DP100 nebuliser the pulmonary deposition of the aerosol was very reproducible from one patient to another, varying only between 9.5 to 14 percent of the nebuliser dose. With the Pari LL the fraction deposited varied more from one patient to another from 5.6 to 27% of the nebuliser dose. In three of four patients, the pulmonary deposition was superior or equal to that obtained with the ultrasonic nebuliser. The patients whose pulmonary deposition was inferior, using the pneumatic nebuliser, was the youngest in the group and co-ordinately poorly the triggering of the nebuliser with the beginning of inspiration. With the two nebulisers, the pulmonary deposition of Colisitine was very heterogeneous throughout the pulmonary parenchyma. The mean of the ratio C/P and S/I obtained in all four patients was identical (1.35 an 0.86 respectively), indicating a deposition of the aerosol which was predominantly central and inferior but was distributed equally in the peripheral parts of the lung. Pneumatic nebulisers offer a reliable alternative notably for domiciliary treatment for Colistine aerosols in patients suffering from cystic fibrosis. In younger patients who have not yet acquired good motor co-ordination, nebulisers which function continuously or are triggered by inspiration seem to be the preferred choice.

[Bronchial tuberculosis. Radiologic endoscopic and clinical aspects]. / La tuberculose bronchique. Aspects radio-cliniques, endoscopiques et évolutifs.

Nowadays, bronchial tuberculosis is an uncommon, although probably underestimated, form of tuberculosis. The records of 23 patients hospitalized between 1978 and 1989 were reviewed retrospectively. Mean age was 57 years (range: 22 to 84 years). Only one female patient of african origin was a recent immigrant. The disease was pseudo-tumoral in 2 cases and included lymph node fistulae in 4 cases. M. tuberculosis was found at microscopic examination in only 10 patients. The course of the disease was slow and sometimes erratic, even under a well-conducted medical treatment. In one of the female patients, a lymph node fistula appeared after 6 months of chemotherapy, and it is clear that medical treatment must be pursued well beyond the conventional time limits. Several mechanisms are responsible for bronchial tuberculosis: either invasion of the neighbouring bronchi by pulmonary tuberculosis; or lymph node fistula now more frequently due to reactivation of old lesions than to a recent primary infection; or again primary bronchial lesions mimicking bronchial carcinoma.

[Bronchial provocation tests in 59 asthmatic children. Comparison with skin tests and specific serum allergens]. / Epreuves de provocation bronchique chez 59 enfants asthmatiques. Comparaison avec les tests cutanés et les réagines sériques spécifiques.

Fifty nine asthmatic children were assessed by skin tests (prick-tests) (TC), specific serum IgE level (R.A.S.T.) and bronchial provocation tests (TPB) with house dust, mites, grass pollen, animal scales and moulds. The concordance of the skin and R.A.S.T. tests with the provocation test, chosen for reference and their diagnostic value was analysed using decision matrices. There was a significant connection between the results of the three tests. The concordance level was only moderate not passing 68%. By comparison to TPB there were numerous false positive Prick-tests and false negative R.A.S.T. The negative predictive value of TC was satisfactory. The most discriminatory threshold for the positive R.A.S.T. was the class 3 response. These results allow the following diagnostic possibilities to be considered. For a common allergen a negative prick-test (TC) would lead to the end of the investigations except for certain particular cases; for an allergen of low prevalence a positive TC should be taken into account, and completing this with RAST and TPB. One could envisage a reduction in the number of TPB and R.A.S.T. performed, reserving them for cases where a discordance between the clinical history and the T.C.