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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.

After the SARS-CoV-2 pandemic, we noticed a marked increase in high-flow nasal cannula use for bronchiolitis. This study aims to report the percentage of children treated with high-flow nasal cannula (HFNC) in various seasons. The secondary outcomes were admissions for bronchiolitis, virological results, hospital burden, and NICU/PICU need. We conducted a retrospective study in four Italian hospitals, examining the medical records of all infants (p p Conclusion: This study shows a marked increase in respiratory support and intensive care admissions this last winter. While these severity indexes were all driven by medical choices, more reliable indexes such as intubation rate and length of stay did not change. Therefore, we suggest that there is a more aggressive treatment attitude rather than a more severe disease. What is Known:• COVID-19 pandemic deeply impacted bronchiolitis epidemiology, reducing hospitalizations to onetenth. In the 2021-2022 winter, bronchiolitis resurged to pre-pandemic numbers in Europe. What is New:• Bronchiolitis hospitalization rose much faster in the 2021-2022 winter period, peaking at a higher level. Respiratory supports and high-flow nasal cannula increased significantly compared to the pre-pandemic era.

Information gathered with built-in software (BIS) on new ventilators allow clinicians to access long-term noninvasive ventilation (LTNIV) data. Nevertheless, few evidence are available in literature that highlight potential strengths and disadvantages of using BIS in pediatrics. We aim to evaluate the use of BIS in a cohort of 90 children on LTNIV in our unit, focusing mainly on adherence, air leaks, and residual sleep events. We found that caregivers' perception of ventilator use is independent from objective adherence (P = .137). Furthermore, we failed to find any predictors of adherence. As regards air leaks, we found that pre-scholars' (0-6 years old) total air leaks are lower than teenagers' (more than 12 years old) (P < .05). Multiple regressive analysis showed that age at the beginning of therapy is a predictor of total air leaks: prescholars are associated with lower values (P < .05), while scholars (6-12 years old) are associated with higher values (P < .05). Finally, we explored the validity of BIS automatic scoring of sleep events (AHIBIS ) as compared with the manual scoring of polygraphy (AHIPG ). AHIBIS is within a range of 3.98 from AHIPG in 95% of cases, with a 64% of sensitivity and a 67% of specificity in identifying a pathological state. The disagreement between the two methods seems to increase for high AHI values. In conclusion, data gathered by BIS are a useful support tool for the clinician in assessing the course of LTNIV. However, clinicians must be aware of the several limitations of built-in software, especially in pediatrics.

Introduction and objectives Patients with neuromuscular disease (NMD) are often exposed to ionizing radiations which could be reduced if a noninvasive and reliable diagnostic method is identified. The major aim of this study was to compare the use of chest X-ray (CXR) with lung ultrasound (LUS) in pediatric patients with NMD, to identify pulmonary atelectasis (PA). Materials and methods A prospective study was conducted on children affected by NMD. In all patients who underwent CXR, a LUS was also performed and results compared for the assessment of PA. Results Forty children affected by NMD were enrolled. Spinal muscular atrophy type 1 was the most common NMD, followed by spinal muscular atrophy type 2 and congenital myopathies. More than half of the subjects presented PA, more prevalent in the lung left lower lobes. LUS agreed with CXR results (negative or positive for atelectasis) in 31 patients (77.5%). In two patients, an agreement evaluation was not possible due to non-conclusive LUS. Conversely, LUS disagreed with CXR in seven patients, four of which were positive for atelectasis. If only complete agreement was considered, the statistical analysis between CXR and LUS showed: LUS sensitivity of 57%, LUS specificity of 82%, positive predictive value 80%, negative predictive value 61%. Conclusions This study suggests that the use of LUS should be recommended to early identify PA and reduce frequent ionizing exposition of these fragile patients. Finally, our study also suggests that LUS can provide relevant information for clinicians and respiratory physiotherapists.

Individuals with chronic respiratory diseases and caregivers are at higher risk for depression and anxiety. Primary ciliary dyskinesia (PCD) and cystic fibrosis (CF) are both rare genetic diseases, characterized by recurrent respiratory infections. This study compared depression and anxiety in people with PCD (pwPCD) and CF (pwCF), and caregivers, using the screening tools recommended in the CF guidelines.Patient Health Questionnaire (PHQ-9) and Generalized Anxiety Disorder (GAD-7) were administered to a PCD and CF sample. Given that PCD is extremely rare, they were matched on age and sex to pwCF at a 1:2 ratio. Similar procedures were performed with parents.A total of 63 patients and 129 caregivers participated: 21 pwPCD and 42 pwCF (ages 12-34 years) plus 43 caregivers of pwPCD and 86 caregivers of pwCF. A high percentage of patients scored above the cut-off for depression (PCD: 33%; CF: 43%) and anxiety (PCD and CF both: 43%), mostly mild. Similarly, a high percentage of caregivers scored above the cut-off for depression (PCD: 42-54%; CF: 45-46%) and anxiety (PCD: 47-54%; CF: 39-56%). Suicidal ideation was endorsed by 9.5% of pwPCD, 20% of mothers and 10% of fathers and 5% of pwCF, 3% of mothers, but no fathers.A large percentage of patients and caregivers reported elevated psychological distress and suicidal ideation. Addressing psychological symptoms is critical given they are associated with poor adherence, missed clinic visits, increased inflammation and worse quality of life. Mental health screening and treatment should be integrated into PCD care.

Sergio Ghirardo (SG): a 15-year-old girl was first admitted to our unit, with significant dyspnoea and fatigue at rest. Her clinical history was uneventful until she was 14 years old when she was hospitalised twice for respiratory symptoms, interpreted as post viral wheezing. Treatment with intravenous corticosteroids, salbutamol and azithromycin was of little clinical benefit. In the last 6 months, she complained of progressive exercise-induced dyspnoea, and her lung function showed a moderate-to-severe obstructive pattern (forced expiratory volume in one second, FEV1/forced vital capacity, FVC 56.6%), with no response to salbutamol. Her symptoms did not improve with inhaled corticosteroids, long-acting β2 agonists and montelukast treatment. Clinically, she reported moderate swelling of the nasal dorsum as a consequence of a blow with a ball received 5 months before admission. She had a bilateral transmissive mild hypoacusis and a significative weight loss of 18 kg in only 8 months. On initial physical examination she appeared pale and tired with a mild redness of the ear helix sparing the lobe and a mild swelling of the nasal dorsum. She was tachypnoeic (20 breaths/min), with normal levels of oxygen saturation. Mild supraclavicular retractions were present during inspiration. On chest auscultation stridor and mild bilateral wheezing were detected. Heart rate was 109 beats/min. The remaining physical examination was normal. Renato Cutrera (RC): we have a previously healthy female adolescent with a personal history of only partially remitting obstructive dyspnoea suggesting a chronic respiratory infection (like tuberculosis or pulmonary mycosis). However, the fatigue associated with significant weight loss should raise the suspicion of pulmonary hypertension. I suggest performing routine blood tests, chest X-ray, full blood count and cardiological evaluation. At the same time, I would administer oral corticosteroids and antibiotic coverage. Federica Porcaro (FP): blood tests showed a mild rise of C reactive protein (CRP) 7.2 mg/L (normal range 0–5 mg/L); whereas …

Bronchiolitis is the most common acute viral infection of the lower airways in infants and the main cause of hospitalisation and death from viral infections in western countries. The worldwide COVID-19 pandemic has led to most countries adopting social distancing measures and population movement restrictions to reduce transmission of the severe acute respiratory syndrome coronavirus 2 infection. During the 2020-2021 winter season, social distancing and mask use altered the spread of common viral respiratory infections, reducing the incidence of winter epidemics.

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.

Children with medical complexity (CMC) are patients with one or more complex chronic conditions dependent on medical technologies. In our unit (Pediatric Pulmonology and Respiratory Intermediate Care Unit, Department of Pediatrics, “Bambino Gesù” Children's Hospital and Research Institute), we regularly follow‐up CMC patients, particularly children on long‐term, invasive (IMV) or noninvasive (NIV), ventilation. Children suffering from chronic diseases and with medical complexity have lost the possibility to go to the hospital during the COVID‐19 pandemic. The aim of this article is to describe our experience with telemedicine (teleconsultation [TC] and telemonitoring of ventilator [TM]) in CMC on ventilation. We presented 21 children on long‐term ventilation (NIV or IMV) whose planned hospital admission was postponed due to lockdown. A total of 12 healthcare problems were detected during scheduled TCs. Only one problem was not solved by our remote intervention. Specifically, TM has allowed us to change the ventilator parameters and to monitor patients on ventilation remotely. In conclusion, the use of telemedicine in CMC ventilated patients resulted in a feasible tool to avoid in‐person visits during the pandemic.

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.

Background Persistent tachypnea of infancy (PTI) is a rare pediatric lung disease of unknown origin. The diagnosis can be made by clinical presentation and chest high resolution computed tomography after exclusion of other causes. Clinical courses beyond infancy have rarely been assessed. Methods Patients included in the Kids Lung Register diagnosed with PTI as infants and now older than 5 years were identified. Initial presentation, extrapulmonary comorbidities, spirometry and clinical outcome were analyzed. Results Thirty-five children older than 5 years with PTI diagnosed as infants were analyzed. At the age of 5 years, 74% of the patients were reported as asymptomatic and did not develope new symptoms during the observational period at school-age (mean, 3.9 years; range, 0.3-6.3). At the age of about 10 years, none of the symptomatic children had abnormal oxygen saturation during sleep or exercise anymore. Lung function tests and breathing frequency were within normal values throughout the entire observational period. Conclusions PTI is a pulmonary disease that can lead to respiratory insufficiency in infancy. As at school age most of the previously chronically affected children became asymptomatic and did not develop new symptoms. We conclude that the overall clinical course is favorable.

Primary ciliary dyskinesia (PCD) is an inherited ciliopathy leading to chronic suppurative lung disease, chronic rhinosinusitis, middle ear disease, sub-fertility and situs abnormalities. As PCD is rare, it is important that scientists and clinicians foster international collaborations to share expertise in order to provide the best possible diagnostic and management strategies. ‘Better Experimental Approaches to Treat Primary Ciliary Dyskinesia’ (BEAT-PCD) is a multidisciplinary network funded by EU COST Action (BM1407) to coordinate innovative basic science and clinical research from across the world to drive advances in the field. The fourth and final BEAT-PCD Conference and fifth PCD Training School were held jointly in March 2019 in Poznan, Poland. The varied program of plenaries, workshops, break-out sessions, oral and poster presentations were aimed to enhance the knowledge and skills of delegates, whilst also providing a collaborative platform to exchange ideas. In this final BEAT-PCD conference we were able to build upon programmes developed throughout the lifetime of the COST Action. These proceedings report on the conference, highlighting some of the successes of the BEAT-PCD programme.

Diffuse lung disease in infancy includes a wide range of very rare and peculiar pulmonary conditions usually not seen in older children, in whom diffuse lung disease has much greater overlap with adult disorders. The acronym chILD (childhood Interstitial Lung Disease) commonly defines these disorders, although air spaces, airways, alveolar epithelium, vasculature, pleura, and pleural spaces can also be involved, besides the pulmonary interstitium. chILD can be caused by diffuse developmental disorders, alveolar growth abnormalities, surfactant dysfunction disorders, and other specific conditions of poorly understood etiology. Chest CT imaging studies play a pivotal role in the evaluation of chILD. In some conditions CT findings can be specific, and thus make it possible avoiding further testing. In other disorders, findings are nonspecific, although they may suggest a diagnostic pattern and guide further testing. Nevertheless, chILD disorders often remain unrecognized on imaging studies, as they are very rare. The aim of this article is to review the CT patterns of lung involvement in a series of infants with chILD.

BACKGROUND Tracheobronchomalacia, defined as variable collapse of the airways, has been recognized as an important cause of respiratory morbidity but still widely underdiagnosed. Bronchoscopy is still considered as the gold standard, but numerous limitations are known, especially for fragile sick children. Moreover, information on parenchymal lung disease cannot be described. There is a real need for a reliable, non-invasive test to help detection of airway and parenchymal malformations in children, specifically when bronchoscopy cannot be performed. METHODS AND RESULTS 34 paediatric patients underwent cine multidector CT for ongoing respiratory symptoms and were included. All CT images were of good quality and sedation was never needed. Airway disease such as trachea-broncomalacia with/without stenosis was described in 53% with the first being more frequent. Bronchomalacia alone was described in 10 patients and in 4 patients was associated with tracheomalacia. Moreover, CT allowed identification of parenchymal disease in 10 patients. Airways stenosis alone was detected in seven patients. The majority of patients (85%) underwent also bronchoscopy for clinical decision. The agreement between CT and bronchoscopy was explored. The two examinations did not agree only in two cases. CT dynamic showed an excellent sensitivity of 100% (81.47-100 %), a great specificity of 82% (48.22-97.72 %), NPV 100%, and PPV 90% (72-96.9 %). CONCLUSION Dynamic CT results an effective and highly sensitive diagnostic exam for children with tracheo-bronchomalacia. CT is especially indicated for those small and fragile patients that cannot undergo an invasive investigation. Moreover, CT allows a detailed evaluation both of the airways and the lungs which is useful for the clinical management.

Introduction: chILD conditions are ultrarare and require international coordination to register cases and demonstrate an ability to deliver cohorts for clinical trials. That capacity has not been demonstrated. Methods: COST action 16125 ‘Enter-ChILD’ WG6 assessed the registry-based capacity for identifying ILD in children and young adults across Europe, using a survey of COST chILD specialists, and searches of Pubmed (ILD/IPF/ lung + database/registry + national/international) and Google. Two principle registries holding the largest cohort of patients were searched for 7 chILD conditions to identify cohorts (ChILDEU and RespiRare). Results: COST survey had 30 responses from 15 countries. Pubmed identified 8 novel and Google 6 novel databases. 28 unique databases were identified: 9 local, 19 national, 1 international (ChILDEU). In the two largest databases, there were 232 cases reported for the 7 conditions: surfactant disorders (145), Morbus Nieman Pick (9), interferonopathies (COPA, SAVI) (5), connective tissue disorders with ILD (13), sarcoidosis (27), hypersensitivity pneumonitis (22), pulmonary interstitial glycogenosis (11). Extraction of subpopulations for i.e. surfactant disorders is possible but requires additional interrogation of each database. Conclusion: Databases for chILD are common and can readily be identified. Given disease rarity, many chILD conditions can be aggregated across databases, though some require additional database interrogation to identify subpopulations. Common classification terms would enable a more rapid and accurate estimation of potential cohorts for clinical trials.

Background: Non-cystic-fibrosis bronchiectasis (NCFB) is still one of the most common causes of childhood morbidity. Objective: the study aimed to determine aetiology, clinical presentation, lobar distribution and microbiologic colonization of NCFB in children. Methods: we performed a retrospective review of clinical, laboratory and instrumental data from 132 non-CF patients with diagnosis of bronchiectasis. All the included patients were evaluated from 2010 to 2018. Results: Mean age at respiratory symptoms’ onset and diagnosis were 9.7 years (± 4.6 SD) and 10.6 years (±5.95 SD), respectively. The aetiology was as follows: post-infectious (39%), primary ciliary dyskinesia (30%), esophageal atresia with trachea-esophageal fistula (8%), secondary (7%) and primary immune deficiency (6%), bronchial malformation (3%), isolated asthma (3%), chronic aspiration (2%), pulmonary fibrosis with TBX4 gene mutation (1%), broncorrea in patient with CFTR polymorphism (1%). Chronic cough (45%), recurrent pneumonia (25%), single pneumonia episode (16%), recurrent wheezing (11%), were the commonest respiratory problems. Left and right lower lobes, medium lobe were commonly involved by cilindric bronchiectasis. H. Influenza (35, 31%), S. Aureus (20, 18%), P. Aeruginosa (20, 18%), were the more frequently isolated bacteria. 51 and 13 patients needed prophylactic oral (azithromycin) and inhaled antibiotics (tobramycin or colistin), respectively. Conclusions: this is the largest study in pediatric NCFB. As the management of NCFB affected patients remains problematic, a better definition of clinical, radiological and microbiological features of NCFB is required to improve their management. Reference: 1. BMC Pediatrics 2014;14: 299

Bronchiolitis is the most frequent airway infection in the first 2 years of life, and the respiratory syncytial virus (RSV) is the most frequently responsible virus. In selected high-risk groups, RSV may cause severe respiratory disease leading to hospitalization, need for mechanical ventilation, and even death. These high-risk groups include children with congenital heart disease, infants with neuromuscular impairment, cystic fibrosis, Down Syndrome, immunodeficiency syndromes and others specific conditions. In these high-risk populations defined in literature as "special population", a 3- to 10-fold increase in the rate of RSV hospitalization has been observed, justifying RSV specific prophylaxis with palivizumab, a monoclonal antibody that binds a viral glycoprotein epitope and blocks the link between RSV and target cell. Evidence of safety and efficacy of RSV prophylaxis in these populations is lacking. Given the low incidence of these conditions, randomized clinical trials are not feasible. The purpose of this paper is to give an update from the literature of various conditions at higher risk to develop severe RSV infection, and to offer an overview of the efficacy of palivizumab in preventing RSV infection in these specific populations.

Rare variants in the T-box transcription factor 4 gene (

Childhood asthma remains a multifactorial disease with heterogeneous clinical phenotype and complex genetic inheritance. The primary aim of asthma management is to achieve control of symptoms, in order to reduce the risk of future exacerbations and progressive loss of lung function, which results especially challenging in patients with difficult asthma. When asthma does not respond to maintenance treatment, firstly, the correct diagnosis needs to be confirmed and other diagnosis - such as cystic fibrosis, primary ciliary dyskinesia, immunodeficiency conditions or airway and vascular malformations - need to be excluded. If control remains poor after diagnostic confirmation, detailed assessments of the reasons for asthma being difficult-to-control are needed. Moreover, all possible risk factors or comorbidities (gastroesophageal reflux, rhinosinusitis, dysfunctional breathing and/or vocal cord dysfunction, obstructive sleep apnea and obesity) should be investigated. At the same time, the possible reasons for poor symptom control need to be find in all modifiable factors which need to be carefully assessed. Non-adherence to medication or inadequate inhalation technique, persistent environmental exposures and psychosocial factors are, currently, recognized as the more common modifiable factors. Based on these premises, investigation and management of asthma require specialist multidisciplinary expertise and a systematic approach to characterising patients' asthma phenotypes and delivering individualised care. Moreover, since early wheezers are at higher risk of developing asthma, we speculate that precocious interventions aimed at early diagnosis and prevention of modifiable factors might affect the age at onset of wheezing, reduce the prevalence of persistent later asthma and determine long term benefits for lung health.

Introduction: Neuromuscular diseases are characterized by weakness of voluntary muscles which determines accumulation of secretions and atelectasis. As a consequence, an excess use of imaging exams is common. It is necessary to identify a reproducible, low cost and reliable diagnostic method to avoid the need for multiple imaging exams. Material and Methods: Pediatric patients affected by neuromuscular diseases admitted to our Unit were enrolled. In patients who underwent a chest X-ray for clinical reasons, a pulmonary ultrasound (PU) was also performed. Results: X-ray and PU were performed in 27 patients (mean age: 7.5 years). PU highlighted pulmonary atelectasis in 13/27 cases. In 2 patients PU was not conclusive because of severe scoliosis. Out of the 12 patients with negative PU for atelectasis, in two patients PU described pulmonary thickening, in one of those cases complicated by pleural effusion. X-ray described 13/27 cases positive for atelectasis and, between the negative, 1 patient with pneumonia. Considering X-ray as the gold standard, concordance between the two examinations showed: Sensitivity 100%, Specificity 85,7%; Negative predictive value 100%, Positive predictive value: 86,6%. Moreover, it is important to point out that in 2 cases with atelectasis, the PU also allowed to detect a pleural effusion, not described by X-ray. Conclusions: Our results show that PU has an excellent diagnostic reliability in identifying pulmonary atelectasis in children with neuromuscular diseases. PU could be a useful test in the follow-up and diagnosis of pulmonary atelectasis, allowing a significant reduction in ionizing radiation for young and fragile patients.

Community-acquired pneumonia (CAP) is still the most important cause of death in countries with scarce resources. All children (33 months ± 35 DS) discharged from the Pediatric Unit of Itigi Hospital, Tanzania, with a diagnosis of CAP from August 2014 to April 2015 were enrolled. Clinical data were gathered. Dried blood spot (DBS) samples for quantitative real-time polymerase chain reaction (PCR) for bacterial detection were collected in all 100 children included. Twenty-four percent of patients were identified with severe CAP and 11% died. Surprisingly, 54% of patients were admitted with a wrong diagnosis, which increased complications, the need for antibiotics and chest X-rays, and the length of hospitalization. Comorbidity, found in 32% of children, significantly increased severity, complications, deaths, need for chest X-rays, and oxygen therapy. Malnourished children (29%) required more antibiotics. Microbiologically, Streptococcus pneumonia (S. p.), Haemophilus influenza type b (Hib) and Staphylococcus aureus (S. a.) were the bacteria more frequently isolated. Seventy-five percent of patients had mono-infection. Etiology was not correlated with severity, complications, deaths, oxygen demand, or duration of hospitalization. Our study highlights that difficult diagnoses and comorbidities negatively affect clinical evolution. S. p. and Hib still play a large role; thus, implementation of current vaccine strategies is needed. DBS is a simple and efficient diagnostic method for bacterial identification in countries with scarce resources.

Respiratory diseases account for about 25% of all pediatric consultations, and 10% of these are for asthma. The other main pediatric respiratory diseases, in terms of incidence, are bronchiolitis, acute bronchitis and respiratory infections. Oral corticosteroids, in particular prednisolone, are often used to treat acute respiratory diseases given their anti-inflammatory effects. However, the efficacy of treatment with oral corticosteroids differs among the various types of pediatric respiratory diseases. Notably, also the adverse effects of corticosteroid treatment can differ depending on dosage, duration of treatment and type of corticosteroid administered — a case in point being growth retardation in long-course treatment. A large body of data has accumulated on this topic. In this article, we have reviewed the data and guidelines related to the role of oral corticosteroids in the treatment and management of pediatric bronchiolitis, wheezing, asthma and croup in the attempt to provide guidance for physicians. Also included is a section on the management of acute respiratory failure in children.

Rare variants in the T-box transcription factor 4 gene (TBX4) have recently been recognised as an emerging cause of paediatric pulmonary hypertension (PH). Their pathophysiology and contribution to persistent pulmonary hypertension in neonates (PPHN) are unknown. We sought to define the spectrum of clinical manifestations and histopathology associated with TBX4 variants in neonates and children with PH.We assessed clinical data and lung tissue in 19 children with PH, including PPHN, carrying TBX4 rare variants identified by next-generation sequencing and copy number variation arrays.Variants included six 17q23 deletions encompassing the entire TBX4 locus and neighbouring genes, and 12 likely damaging mutations. 10 infants presented with neonatal hypoxic respiratory failure and PPHN, and were subsequently discharged home. PH was diagnosed later in infancy or childhood. Three children died and two required lung transplantation. Associated anomalies included patent ductus arteriosus, septal defects, foot anomalies and developmental disability, the latter with a higher prevalence in deletion carriers. Histology in seven infants showed abnormal distal lung development and pulmonary hypertensive remodelling.TBX4 mutations and 17q23 deletions underlie a new form of developmental lung disease manifesting with severe, often biphasic PH at birth and/or later in infancy and childhood, often associated with skeletal anomalies, cardiac defects, neurodevelopmental disability and other anomalies.

Non-invasive positive pressure ventilation is increasingly used in children both in acute and in chronic setting. Clinical data supporting safety, efficacy and limitations in children are growing. Technical problems related to the ventilators performance and interfaces selection have not been fully resolved, especially for younger children. Non-invasive ventilation can be applied at home. Its use at home requires appropriate diagnostic procedures, accurate titration of the ventilators, cooperative and educated families and careful, well-organized follow-up programs.