Inhalation technique practical skills and knowledge among physicians and nurses in two pediatric emergency settings

Introduction: Correct technique with a pressurized metered-dose inhaler (pMDI) equipped with a valved holding chamber (VHC) or spacer provides an important advantage for adequate control of asthma and virus-induced wheezing in young children. The aim of this study was to assess the ability and knowledge of physicians and nurses to use a pMDI with a masked VHC in two pediatric emergency units. Methods: Study design: Two-center observational study. Inhaler use technique was assessed in 50 physicians and 50 nurses using a child mannequin and a validated videotaped nine-step scoring method. The participants' knowledge was evaluated by a questionnaire. Results: The inhalation technique was perfectly mastered by 49% of the study participants and almost perfectly mastered by another 34% (mean score 8.3 ± 0.7; range 5-9). Nurses were more likely than doctors to demonstrate the technique perfectly (66% vs. 32%, p < 0.05). The two most common errors were forgetting to shake the pMDI between two consecutive puffs (38% of the participants) and putting the patient in an incorrect position (11%). About half of the participants reported that they checked each patient's inhalation technique at every opportunity and knew how to clean the VHC. A large majority did not employ a reliable method to determine the amount of medication remaining in pMDIs without a counter. Conclusion: Healthcare professionals' practical skills and knowledge on inhalation therapy were not completely mastered and could be improved with a mandatory training program

[R74W;R1070W;D1270N]: a new complex allele responsible for cystic fibrosis.

Since the beginning of population screening for CF carriers, it has become apparent that complex CFTR alleles are not uncommon. Deciphering their impact in disease pathogenesis remains a challenge for both clinicians and researchers. We report the observation of a new complex allele p.[R74W+R1070W+D1270N] found in trans with a type 1 mutation and associated with clinical diagnosis of cystic fibrosis in a one year-old Moroccan patient. This case underlines the difficulties in counseling patients with uncommon mutations and the necessity of functional studies to evaluate the structure-function relationships, since the association of several variations in cis can dramatically alter CFTR function

Microbiota present in cystic fibrosis lungs as revealed by whole genome sequencing.

Determination of the precise composition and variation of microbiota in cystic fibrosis lungs is crucial since chronic inflammation due to microorganisms leads to lung damage and ultimately, death. However, this constitutes a major technical challenge. Culturing of microorganisms does not provide a complete representation of a microbiota, even when using culturomics (high-throughput culture). So far, only PCR-based metagenomics have been investigated. However, these methods are biased towards certain microbial groups, and suffer from uncertain quantification of the different microbial domains. We have explored whole genome sequencing (WGS) using the Illumina high-throughput technology applied directly to DNA extracted from sputa obtained from two cystic fibrosis patients. To detect all microorganism groups, we used four procedures for DNA extraction, each with a different lysis protocol. We avoided biases due to whole DNA amplification thanks to the high efficiency of current Illumina technology. Phylogenomic classification of the reads by three different methods produced similar results. Our results suggest that WGS provides, in a single analysis, a better qualitative and quantitative assessment of microbiota compositions than cultures and PCRs. WGS identified a high quantity of Haemophilus spp. (patient 1) or Staphylococcus spp. plus Streptococcus spp. (patient 2) together with low amounts of anaerobic (Veillonella, Prevotella, Fusobacterium) and aerobic bacteria (Gemella, Moraxella, Granulicatella). WGS suggested that fungal members represented very low proportions of the microbiota, which were detected by cultures and PCRs because of their selectivity. The future increase of reads' sizes and decrease in cost should ensure the usefulness of WGS for the characterisation of microbiota