Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.

Primary ciliary dyskinesia (PCD) is an inherited chronic respiratory obstructive disease with randomized body laterality and infertility, resulting from cilia and sperm dysmotility. PCD is characterized by clinical variability and extensive genetic heterogeneity, associated with different cilia ultrastructural defects and mutations identified in >20 genes. Next generation sequencing (NGS) technologies therefore present a promising approach for genetic diagnosis which is not yet in routine use.

Cell and cytokine profile in nasal secretions in cystic fibrosis.

Background: Nasal polyposis (NP) frequently complicates the course of cystic fibrosis (CF). The aim of this study was to determine the pattern of inflammatory cells and mediators in nasal secretions from patients with or without NP compared to patients with idiopathic NP and healthy controls.

Methods: Eighteen CF patients with NP (NP+ group: 6 untreated, 12 treated with nasal steroids), and 15 without NP (NP- group) were included in this prospective study and compared to 9 patients with idiopathic NP and 12 healthy controls.

[A rare complication of chronic pancreatitis: pancreatico-pleural fistula].

Pleural effusion is a rare complication of chronic pancreatitis. We report a case observed in a 39-year-old patient hospitalized for dyspnea and pain in the lower left thorax. Chest x-ray revealed left pleural effusion.

[Biological criteria for distinguishing exudative and transudative pleural effusions. Usefulness in a general hospital].

The first step in the diagnosis of a pleural effusion is to determine the exudative or transudative nature of the fluid. The purpose of this work was to compare different biological criteria commonly used in clinical practice. Among 118 pleural effusion fluids studied, 24.

Bronchial interleukin-5 and eotaxin expression in nasal polyposis. Relationship with (a)symptomatic bronchial hyperresponsiveness.

An eosinophilic bronchial inflammation was previously demonstrated in patients with nasal polyposis (NP) and asymptomatic bronchial hyperresponsiveness (BHR) similar to that observed in asthmatic patients with NP, whereas patients with NP without BHR did not. The aim of the study was to investigate the contribution of interleukin 5 (IL-5) and eotaxin to the pathogenesis of BHR associated with NP. Eleven patients with NP without BHR (Group A), 8 patients with NP and asymptomatic BHR (Group B), and 9 patients with NP and asthma (Group C) were included.