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There are no recent data on primary ciliary dyskinesia (PCD) distribution, diagnosis and treatment in Italy.A descriptive study based on a survey questionnaire. It consisted of three sections (patients, diagnosis and treatment), and sent to all the Italian PCD Centers.questionnaires obtained from 20/22 centers in 12/20 regions showed that the total number of PCD patients treated at the participating centers was of 416. Out of all centers, 55% follow20 patients, 2 centers have40 patients, and 75% follow both pediatric and adults. Age at diagnosis was between 4 and 8 years in 45% of the centers,3 years in 3 centers. Nasal nitric oxide, transmission electron microscopy and ciliary high-speed video microscopy are performed in 75, 90 and 40% of centers, respectively. Immunofluorescence is available in 5 centers. Genetic analysis is offered in 55% of the centers, and in 7 centers50% of the patients have a known genetic profile. Patients treated at all centers receive inhaled saline solutions, corticosteroids and chest physiotherapy. Prophylactic antibiotics and mucolytics are prescribed in 95 and 50% of the centers, respectively. Pseudomonas infection is treated with oral or inhaled antibiotics.Many Italian centers care for a small number of pediatric and adult patients, and diagnosis is often delayed. We found a great variability in the available diagnostic procedures, as well in the prescribed therapies. Our study will help to uniform diagnostic algorithm and share treatments protocols for PCD in Italy and allowed to set specific national goals. This article is protected by copyright. All rights reserved.

Retrocardiac pneumomediastinum (RP) is the consequence of air trapping in the inferior and posterior mediastinum. It is characterized by the presence of a right or left para-sagittal infrahilar oval or pyramidal air collection on a chest X-ray. It is usually detected in neonates because of alveolar rupture after invasive ventilation or invasive manoeuvres applied on airways or the digestive tract. A healthy child came to the emergency department (ED) for acute respiratory failure due to viral bronchiolitis when he was 2 months old. Because of his clinical condition, he underwent helmet continuous positive airway pressure (HCPAP). When the condition allowed, he was discharged and sent home. He was re-admitted into the hospital for asthmatic bronchitis 3 months later. A frontal chest X-ray taken during the second hospitalization showed an oval-shaped retrocardiac air lucency not previously detected. Differential diagnosis including digestive and lung malformations was made. Finally, the diagnosis of RP was made. We report an unusual case of retrocardiac pneumomediastinum in a 5-month-old male infant after the application of continuous positive pressure via a helmet. RP presentation after the administration of non-invasive ventilatory support beyond the neonatal age is unusual. Although surgical drainage is curative, conservative treatment can be considered in hemodynamically stable patients.

Background Noncystic fibrosis bronchiectasis (NCFB) is still considered an "orphan disease" in pediatric age. Objective The study describes the clinical and functional features, the instrumental, and microbial findings of a large cohort of patients with NCFB, followed in a single tertiary level hospital. Methods Children and adolescents diagnosed with NCFB from January 1, 2010 to December 31, 2019 were included. Data from the diagnosis and during the years of follow-up were recorded retrospectively. Results One hundred and thirty-eight patients were enrolled. The most common cause of NCFB was postinfectious (33%), followed by primary ciliary dyskinesia (PCD) (30%), esophageal atresia (EA) (9.5%), and secondary immunodeficiency (9.5%). Chronic cough was the most frequent symptom. The median age of symptoms presentation was 3 years (interquartile age [IQR]: 12-84), with a precocious onset in PCD and EA groups. The median age of CT diagnosis was 9 years for all groups but PCD patients who were diagnosed at older age. Lingula, medium, upper, and lower lobes were more involved in PCD group, while diffuse distribution was observed in the postinfectious one. Microbial exams showed Pseudomonas aeruginosa colonization higher in PCD patients (22%). Despite microbial differences in airways colonization, no difference in respiratory exacerbation rate was recorded among groups. Lung function tests demonstrated the stability of forced expiratory volume in 1 s (FEV1) and forced vital capacity (FVC) over time, except for the secondary immunodeficiency group. Conclusions The role of infections in developed countries should not be underestimated and a major effort to obtain an earlier identification of bronchiectasis should be taken. A prompt diagnosis of NFCB could help to reduce the frequency of exacerbations and improve the stability of lung function over time.

Introduction and Objectives: Wheezing episodes are the first causes of doctor's consultation in preschool age. Treatment is usually administered with a metered dose inhaler (MDI) spacer. At variance, many parents and doctors prefer to use a compressor nebulizer, which cannot be easily carried. The study is aimed at testing whether a pocket mesh nebulizer has similar efficacy and acceptability than a standard MDI device.Materials and Methods: The IPAC study was a randomized, controlled, non-inferiority trial (number: 1616/2018, Ospedale Pediatrico Bambino Gesu'—IRCCS). The study had two arms: cases, using MicroAIR U100, and controls, using MDI+spacer device. Both devices were adopted for long-term treatment and for exacerbations. Follow-up was organized with clinical visits and a daily e-diary connected to an application for mobile phone.Results: One hundred patients were enrolled. The frequency of asthmatic symptoms showed a non-inferiority for MicroAIR U100 group vs. MDI. Accordingly, no significant difference was found in the average % of days with cough, wheezing, breathlessness after exercise, days lost at school, and not-programmed visits. Considering only patients with >1 day with symptoms, no significant sdifferences were found in the number of exacerbations nor in the cumulative days with symptoms. The acceptance and usability of both devices have been favorable. However, the MDI+AeroChamber® device showed better acceptability.Conclusions: Our study shows that MicroAIR U-100, a mesh nebulizer, has similar clinical efficacy but lower acceptance and usability than an MDI plus Aerochamber® in delivering therapy in preschool wheezers. Therefore, MicroAIR U-100 might be a valuable second choice, when the delivery of medication with an MDI plus Aerochamber® is not accepted, or wrongly used by the parents.

Asthma is the most frequent chronic inflammatory disease of the lower airways affecting children, and it can still be considered a challenge for pediatricians. Although most asthmatic patients are symptom-free with standard treatments, a small percentage of them suffer from uncontrolled persistent asthma. In these children, a multidisciplinary systematic assessment, including comorbidities, treatment-related issues, environmental exposures, and psychosocial factors is needed. The identification of modifiable factors is important to differentiate children with difficult asthma from those with true severe therapy-resistant asthma. Early intervention on modifiable factors for children with difficult asthma allows for better control of asthma without the need for invasive investigation and further escalation of treatment. Otherwise, addressing a correct diagnosis of true severe therapy-resistant asthma avoids diagnostic and therapeutic delays, allowing patients to benefit from using new and advanced biological therapies.