Height Velocity in Pediatric Cystic Fibrosis Under Triple CFTR Modulator Therapy: A Real-Life Monocentric Experience.

Cystic fibrosis (CF) is a multi-system disorder characterized by chronic respiratory failure, malnutrition, and impaired growth. Achieving linear growth above the 50th percentile is associated with better pulmonary outcomes. Since October 2022, Elexacaftor/Tezacaftor/Ivacaftor (ETI) has been approved in Italy for children aged ≥6 years.

Development and Validation of a New LC-MS/MS Method for Simultaneous Quantification of Ivacaftor, Tezacaftor and Elexacaftor Plasma Levels in Pediatric Cystic Fibrosis Patients.

: "CFTR modulators" (also named "caftor") have been developed and introduced into clinical practice to improve the functionality of defective CFTR protein. Therapeutic drug monitoring (TDM) is not currently used for CFTR modulators in routine clinical practice and there is still much to learn about the pharmacokinetic/pharmacodynamic (PK/PD) and the safety profiles of these drugs in a real-world setting. Moreover, therapeutic ranges are not yet available for both pediatric and adult cystic fibrosis (CF) patients.

Natural variability of lung function in primary ciliary dyskinesia: longitudinal analysis from the PROVALF-PCD cohort.

Background: The extent to which changes in lung function are due to natural variability in patients with primary ciliary dyskinesia (PCD) is unknown. We aimed to assess intra-individual variability in forced expiratory volume in 1 s (FEV) derived from spirometry to define the extent to which the observed changes were due to test variability in clinically stable PCD patients.

Methods: PROVALF-PCD (Prospective Observational Multicentre Study on Variability of Lung Function in Stable PCD Patients) was a large international prospective cohort conducted in 2017-2019.

Nocturnal oximetry in infants: Reference values and diagnostic accuracy for upper airway obstruction.

Objective: To present reference data for nocturnal oximetry (NOx) in infants without respiratory disorders and evaluate their diagnostic accuracy for distinguishing moderate-to-severe upper airway obstruction (UAO) from mild/no UAO.

Materials And Methods: Infants (aged 1-12 months) without respiratory disease hospitalized for common disorders (e.g.

ARIA-Italy multidisciplinary consensus on nasal polyposis and biological treatments: Update 2025.

In recent years, it was recognized that type-2 inflammation connects nasal polyposis and severe asthma (SA) in addition to other type-2 diseases. Thus, some biological drugs developed for SA appeared to exert a favourable effect also in nasal polyposis. So far, there are several trials supporting this concept; therefore, some monoclonal antibodies already used for SA were assessed also in chronic rhinosinusistis with nasal polyposis (CRSwNP), with promising results.

Respiratory assessment and management of newborns and children with congenital lung diseases: a cohort study.

Introduction: Children with congenital lung disease (CLD) may suffer from long-term complications, such as impairments in lung growth, decreased total lung volume, recurrent lower respiratory tract infections and, in some cases, malignant transformation.

Objective And Methods: we described retrospective data on diagnostic process, clinical and functional data regarding a cohort of symptomatic and asymptomatic children with CLD followed in a single third level center in the last twenty years.

Results: 91 children were included in the study.

National survey on pediatric respiratory physiotherapy units: primary ciliary dyskinesia and non-CF bronchiectasis.

Background: Currently, there is a lack of data concerning the organization and characteristics of Italian pediatric physiotherapy units for the treatment of patients with chronic lung diseases, especially those with rare conditions such as Primary Ciliary Dyskinesia (PCD) and non-Cystic Fibrosis bronchiectasis (NCFB).

Methods: A national descriptive study based on a survey questionnaire was conducted. The questionnaire consisted of three different sections: distribution and characteristics of the centres, services provided by respiratory therapists, physiotherapists' perception of the unit.

Televisit with TytoHome™ device in medically complex child in long-term mechanical ventilation: a pilot study.

Background: During the pandemic, the pneumology team at Bambino Gesù Children's Hospital highlighted that telemedicine was a valuable tool for remotely managing the medical needs of children with medical complexity (CMC). Following the telemedicine experience during the emergency phase, a telemedicine service was established, and new tools were tested to optimize televisits and the overall eHealth approach for patients. In this context, the TytoHome™ device was tested for performing objective examinations remotely.

Tools and devices for telerehabilitation in pediatric and adult cystic fibrosis patients: a scoping review.

Background: Cystic fibrosis (CF) is a genetic disorder affecting multiple organs, primarily the lungs. Rehabilitation is crucial in managing respiratory symptoms. Telerehabilitation, which provides remote rehabilitation services digital platforms, gained importance during the COVID-19 pandemic.

Two Novel Biallelic Variants in the Gene: The First Italian Case and a Literature Review.

: The gene encodes for the catalytic α subunit of Cytoplasmic phenylalanine-tRNA synthetase (FARS1), an essential enzyme for protein biosynthesis in transferring its amino acid component to tRNAs. Biallelic pathogenic variants have been associated with a multisystemic condition, characterized by variable expressivity and incomplete penetrance. Here, we report the case of an 11 year-old girl presenting interstitial lung disease, supratentorial leukoencephalopathy with brain cysts, hepatic dysfunction, hypoalbuminemia, skin and joint hyperlaxity, growth retardation, and dysmorphic features.

Long Term Ventilation in Pediatric Central Apnea: Etiologies and Therapeutic Approach over a Decade.

Objective: This retrospective study aimed to analyze the clinical characteristics, ventilatory strategies, and effectiveness of ventilation in pediatric patients with central apneas treated at the Sleep Medicine and Long-Term Ventilation Unit of the Bambino Gesù Children's Hospital in Rome from 2012 to 2022.

Methods: Among all ventilated patients at our Center from January 2012 to December 2022, we retrospectively included children with a cAHI ≥ 1 events/h on baseline poly(somno)graphic study. Additional parameters assessed included the underlying disease, type of ventilation (non-invasive vs.

Elexacaftor/tezacaftor/ivacaftor efficacy in intestinal organoids with rare CFTR variants in comparison to CFTR-F508del and CFTR-wild type controls.

Cystic fibrosis is a life-shortening genetic disease caused by pathological variants of the cystic fibrosis transmembrane conductance regulator gene. The CFTR modulator therapy elexacaftor, tezacaftor and ivacaftor (ETI) rescues CFTR protein function and has made a significant impact on the lives of many people with CF. In Europe, ETI is currently available for people with CF who have at least one F508del mutation whilst the effect of ETI on rare CFTR variants remains unknown, albeit that many of such variants may be restored through ETI.

The Challenging Life of Mutators: How Survives between Persistence and Evolution in Cystic Fibrosis Lung.

Cystic fibrosis (CF) is a life-threatening genetic disease characterised by chronic lung infections sustained by opportunistic pathogens such as During the chronic long-lasting lung infections, adapts to the host environment. Hypermutability, mainly due to defects in the DNA repair system, resulting in an increased spontaneous mutation rate, represents a way to boost the rapid adaptation frequently encountered in CF isolates. We selected 609 isolates from 51 patients with CF chronically colonised by to study, by full-length genome sequencing, the longitudinal evolution of the bacterium.

A smartphone app for preschool wheezing and reliability of medical history collection.

Background: The use of mobile applications helps improving self-management in adolescents with asthma. However, no evidence is available for children with preschool wheezing. In addition, we have no data on the reliability of medical history collected at visits.

Use of Lung Ultrasound in Cystic Fibrosis: Is It a Valuable Tool?

Cystic fibrosis (CF) is a multisystem disorder characterized by progressive respiratory deterioration, significantly impacting both quality of life and survival. Over the years, lung ultrasound (LUS) has emerged as a promising tool in pediatric respiratory due to its safety profile and ease at the bedside. In the era of highly effective CF modulator therapies and improved life expectancy, the use of non-ionizing radiation techniques could become an integral part of CF management, particularly in the pediatric population.

Type 2 asthma paediatric patients eligible for dupilumab: An Italian biomarker-based analysis.

Background: Type 2 inflammation is the principal determinant of asthma in children, and it leads to the downstream activation of eosinophils (EOS), the production of immunoglobulin-E (IgE), and increased levels of fraction of exhaled nitric oxide (FeNO). Dupilumab received the approval for the treatment of uncontrolled severe Type 2 asthma in children.

Objective: The aim of this analysis was to calculate the Type 2 severe asthma paediatric population who would be eligible for treatment with dupilumab in Italy and characterize them by expected biomarker status.

New noninvasive modalities in long-term pediatric ventilation: a scoping review.

Long-term noninvasive ventilation modalities for the pediatric population have undergone a continuous evolution. Hybrid noninvasive ventilation modalities have been recently introduced in clinical practice. Combining the advantages of conventional ventilation, hybrid modes use algorithms that automatically adjust the ventilator's settings to achieve a predefined ventilation target.

The Efficacy of Noninvasive Ventilation in Patients Affected by Rett Syndrome With Hypoventilation.

Background: Rett syndrome is a progressive neurological disorder associated to several comorbidities that contribute significantly to impair lung function. Respiratory morbidity represents a major cause of death in this population. Little is known about the benefit of noninvasive ventilation.

24-h continuous non-invasive multiparameter home monitoring of vitals in patients with Rett syndrome by an innovative wearable technology: evidence of an overlooked chronic fatigue status.

Background: Sleep is disturbed in Rett syndrome (RTT), a rare and progressive neurodevelopmental disorder primarily affecting female patients (prevalence 7.1/100,000 female patients) linked to pathogenic variations in the X-linked methyl-CpG-binding protein 2 () gene. Autonomic nervous system dysfunction with a predominance of the sympathetic nervous system (SNS) over the parasympathetic nervous system (PSNS) is reported in RTT, along with exercise fatigue and increased sudden death risk.