Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.

Primary ciliary dyskinesia (PCD) is a rare genetic disorder that alters mucociliary clearance, with consequent chronic disease of upper and lower airways. Diagnosis of PCD is challenging, and genetic testing is hampered by the high heterogeneity of the disease, because autosomal recessive causative mutations were found in 34 different genes. In this study, we clinically and molecularly characterized a cohort of 51 Italian patients with clinical signs of PCD.

Serum-specific IgE and allergen immunotherapy in allergic children.

Aim: Allergen immunotherapy (AIT) is indicated in IgE-mediated respiratory allergy. Recently, it has been reported that serum-specific IgE (sIgE) levels >10 kU/l may predict AIT efficacy in adults with allergic rhinitis. The aim of the present preliminary study was to investigate whether this cut-off could also be associated with perception of effective AIT in children with allergic asthma and/or rhinitis due to house dust mites (HDM).

May T1 diabetes mellitus protect from asthma?

Background: Type 1 diabetes mellitus (T1DM) may be associated with allergy. It was previously reported that >20% of children with T1DM had allergic rhinitis (AR), but none was asthmatic. This finding was surprising as allergic rhinitis is frequently associated with asthma and asthma prevalence is about 10% of the general paediatric population.

Perception of bronchodilation assessed by Visual Analogue Scale in children with asthma.

Background: Visual Analogue Scale (VAS) has been proposed as a useful tool for assessing the perception of asthma symptoms, a cornerstone in disease management. While airway flow limitation and its reversibility are thought to be a useful marker of disease severity, there are very few studies that evaluated the response to bronchodilation (BD) testing perception by VAS. To investigate whether VAS assessment of breathlessness perception could provide a useful tool to assess the response to BD testing in asthmatic children.