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.

Whooping Cough Cases Increase in Central Italy after COVID-19 Pandemic.

Pertussis continues to be a highly contagious respiratory infection, especially in children, with cyclical peaks of disease spread every three to five years. Here, we report relevant cases of infection between August 2023 and January 2024, and compare them with prevalence in pediatric patients admitted to the Reference Italian Pediatric Hospital, located in Rome, from January 2015 to July 2023. A total of 5464 tests for were performed during the study period, and 6.

Management of respiratory issues in patients with Rett syndrome: Italian experts' consensus using a Delphi approach.

Background: Despite the publication of the 2020 guidelines on how to manage Rett Syndrome (RS), some fundamental topics are still open, in particular respiratory problems.

Objective: Identification and reinforcement of current recommendations concerning the management of respiratory issues in RS patients.

Materials And Methods: Using a Delphi approach, the leading group reviewed the literature and formulated 14 statements.

Epidemiology of respiratory syncytial virus in a large pediatric hospital in Central Italy and development of a forecasting model to predict the seasonal peak.

Background: Respiratory Syncytial Virus (RSV) is responsible for the majority of acute lower respiratory infections in infants and can affect also older age groups. Restrictions linked to the emergence of the SARS-CoV-2 pandemic and their subsequent lifting caused a change in the dynamics of RSV circulation. It is therefore fundamental to monitor RSV seasonal trends and to be able to predict its seasonal peak to be prepared to the next RSV epidemics.

Pediatric asthma and altitude: a complex interplay between different environmental factors.

Asthma is one of the most common non-communicable diseases, and its prevalence and morbidity are influenced by a wide array of factors that are only partially understood. In addition to individual predisposition linked to genetic background and early life infections, environmental factors are crucial in determining the impact of asthma both on an individual patient and on a population level.Several studies have examined the role of the environment where asthmatic subjects live in the pathogenesis of asthma.

Lung clearance index short-term variability in cystic fibrosis: a pre-post pulmonary exacerbation study.

Background: Multiple Breath washout (MBW) represents an important tool to detect early a possible pulmonary exacerbation especially in Cystic Fibrosis (CF) disease. Lung clearance index (LCI) is the most commonly reported multiple breath washout (MBW) index and in the last years was used as management measure for evaluation. Our aim was to analyze clinical utility of LCI index variability in pulmonary exacerbation in CF after intravenous (IV) antibiotic therapy.

Longitudinal Effects of Elexacaftor/Tezacaftor/Ivacaftor: Multidimensional Assessment of Neuropsychological Side Effects and Physical and Mental Health Outcomes in Adolescents and Adults.

Background: Italy initiated elexacaftor/tezacaftor/ivacaftor (ETI) for people with cystic fibrosis (pwCF) in July 2021. It has led to dramatic improvements in lung function, BMI, sweat chloride, and respiratory symptoms. However, few data are available on side effects or effects on a broad range of outcomes.

Identification of the Gene in the First Mucoid XDR Isolated from a Patient with Cystic Fibrosis.

is one of the pathogens most involved in health care-associated infections in recent decades. Known for its ability to accumulate several antimicrobial resistance mechanisms, it possesses the oxacillinase , a carbapenemase now endemic in Italy. species are not frequently observed in patients with cystic fibrosis, and multidrug-resistant is a rare event in these patients.

Care Issues in Patients with Rett Syndrome: A Parental Perspective.

Background: The purpose of this study is to better understand the way caregivers of patients with Rett syndrome perceive the quality of the health care services they receive and identify its main shortcomings.

Methods: A survey was distributed to all caregivers who are part of AIRETT (the Italian Association of Relatives of Patients with RS). The survey gathered information on the management of relatives of patients with Rett syndrome.