European Respiratory Society statement on preschool wheezing disorders: updated definitions, knowledge gaps and proposed future research directions.

Since the publication of the European Respiratory Society (ERS) task force reports on the management of preschool wheezing in 2008 and 2014, a large body of evidence has accumulated suggesting that the clinical phenotypes that were proposed (episodic (viral) wheezing and multiple-trigger wheezing) do not relate to underlying airway pathology and may not help determine response to treatment. Specifically, using clinical phenotypes alone may no longer be appropriate, and new approaches that can be used to inform clinical care are needed for future research. This ERS task force reviewed the literature published after 2008 related to preschool wheezing and has suggested that the criteria used to define wheezing disorders in preschool children should include age of diagnosis (0 to <6 years), confirmation of wheezing on at least one occasion, and more than one episode of wheezing ever. Furthermore, diagnosis and management may be improved by identifying treatable traits, including inflammatory biomarkers (blood eosinophils, aeroallergen sensitisation) associated with type-2 immunity and differential response to inhaled corticosteroids, lung function parameters and airway infection. However, more comprehensive use of biomarkers/treatable traits in predicting the response to treatment requires prospective validation. There is evidence that specific genetic traits may help guide management, but these must be adequately tested. In addition, the task force identified an absence of caregiver-reported outcomes, caregiver/self-management options and features that should prompt specialist referral for this age group. Priorities for future research include a focus on identifying 1) mechanisms driving preschool wheezing; 2) biomarkers of treatable traits and efficacy of interventions in those without allergic sensitisation/eosinophilia; 3) the need to include both objective outcomes and caregiver-reported outcomes in clinical trials; 4) the need for a suitable action plan for children with preschool wheezing; and 5) a definition of severe/difficult-to-treat preschool wheezing.

Impact of CFTR Modulators on the Impaired Function of Phagocytes in Cystic Fibrosis Lung Disease.

Cystic fibrosis (CF), the most common genetically inherited disease in Caucasian populations, is a multi-systemic life-threatening autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. In 2012, the arrival of CFTR modulators (potentiators, correctors, amplifiers, stabilizers, and read-through agents) revolutionized the therapeutic approach to CF. In this review, we examined the physiopathological mechanism of chronic dysregulated innate immune response in the lungs of CF patients with pulmonary involvement with particular reference to phagocytes, critically analyzing the role of CFTR modulators in influencing and eventually restoring their function. Our literature review highlighted that the role of CFTR in the lungs is crucial not only for the epithelial function but also for host defense, with particular reference to phagocytes. In macrophages and neutrophils, the CFTR dysfunction compromises both the intricate process of phagocytosis and the mechanisms of initiation and control of inflammation which then reverberates on the epithelial environment already burdened by the chronic colonization of pathogens leading to irreversible tissue damage. In this context, investigating the impact of CFTR modulators on phagocytic functions is therefore crucial not only for explaining the underlying mechanisms of pleiotropic effects of these molecules but also to better understand the physiopathological basis of this disease, still partly unexplored, and to develop new complementary or alternative therapeutic approaches.

A two-week summer program promoting physical activity: quality of life assessment in Italian children.

Physical activity (PA) can be associated with better health-related quality of life (HRQoL). This study aimed to assess HRQoL before and after a two-week summer program promoting PA in Italian school-aged children. Participants were recruited during the Giocampus summer2017 (Parma, Italy), from June to July. Before (T0) and after (T1) the program, children and one of their parents answered the Kindl questionnaire. For each domain, least-square mean changes (LSmc) at T1 were derived from linear regression models stratified by responder and adjusted for child gender, age group, time spent in PAs and HRQoL score of the responder at T0. 350 children (7-13 years, 52% males) and 342 parents answered the questionnaire at both T0 and T1. At T1, the HRQoL score of the children significantly improved in the emotional (LSmc 2.9, p<0.001), self-esteem (LSmc 3.3, p<0.001), family (LSmc 4.2, p<0.001) and friend (LSmc 3.1, p<0.001) domains. Parents reported significantly more improvement in self-esteem than children (LSmc 6.7 vs 3.3, p=0.012). Children spending more time in PA reported significantly more improvement in self-esteem than those doing less PA (LSmc 4.4 [p<0.001] vs 2.2 [p=0.181]). A short summer program promoting PA may improve HRQoL in the general population of school-aged children.

Aortic Arch Interruption and Persistent Fifth Aortic Arch in Phace Syndrome: Prenatal Diagnosis and Postnatal Course.

PHACE is a rare congenital neurocutaneous syndrome where posterior fossa malformations, hemangiomas, cerebrovascular anomalies, aortic arch anomalies, cardiac defects, and eye abnormalities are variably associated. We describe the prenatal detection and the postnatal course of a child with PHACE syndrome with a unique type of aortic arch anomaly consisting of proximal interruption of the aortic arch and persistence of the fifth aortic arch. The fifth aortic arch represented in this case a vital systemic-to-systemic connection between the ascending aorta and the transverse portion of the aortic arch allowing adequate forward flow through the aortic arch without surgical treatment.

Severe hypokalemia and hypophosphatemia presenting with carpopedal spasm associated with rhabdomyolysis.

Background Severe hypokalemia, defined as serum potassium < 2.5 mEq/L, may lead to neuromuscular, gastrointestinal, and ECG abnormalities. Neuromuscular consequences of hypokalemia include weakness, cramps, rarely paralysis, eventually progressing to rhabdomyolysis. Case presentation We report a case of a 4-year-old girl presenting carpopedal spasm and rhabdomyolysis due to severe hypokalemia associated to hypophosphatemia and hypovolemia. At one month of age she underwent an ileal resection because of a neonatal necrotizing enterocolitis, and a bowel resection at two years of age, because of sub-occlusive episodes. The child had frequent episodes of diarrhoea and was treated with oral white clay (kaolin) and a restrictive diet. Three days prior the admission to the hospital she had numerous episodes of watery diarrhoea. Laboratory tests revealed severe hypokalemia, hypophosphatemia, normal calcium levels associated with marked dehydration. An ECG demonstrated sinus bradycardia, ST-segment depression, T-wave flattening, U-wave, and long-QTc. Symmetric carpal and pedal spasms were observed. A marked rise of creatinine phosphokinase and myoglobin associated to cola colored urine was observed. Intravenous supplementation of potassium phosphate as well as adequate volume repletion led to an improvement of the clinical condition, to the disappearance of carpal and pedal spasms, to normalisation of ECG.  Conclusions Careful electrolytes and volume supplementation led to the correction of potential life-threatening arrhythmias and obtained a complete recovery from carpopedal spasm and rhabdomyolysis. Dietary restriction and pharmacological preparations as kaolin have to be administered with caution to treat diarrhea in children and particularly in those who may present other pre-existing risk factors.

The Role of Telemedicine in Children with Obstructive Sleep Apnea Syndrome (OSAS): A Review of the Literature.

The advent of telemedicine marked a significant turning point in the healthcare landscape, introducing a revolutionary approach to the delivery of medical care. Digital technologies easily connect health professionals and patients, overcoming geographical and temporal barriers. Telemedicine has been used for sleep disorders including obstructive sleep apnea syndrome (OSAS) since the mid-1990s. In adult patients with OSAS, telemedicine is helpful both for consultation and diagnosis, the latter obtained through remote recordings of oxygen saturation and further parameters registered with telemonitored respiratory polygraphy or polysomnography. Remote monitoring can be used to follow up the patient and verify adherence to daily treatments including continuous positive airway pressure (CPAP). In children, studies on the role of telemedicine in OSAS are scarce. This narrative review aims to describe the application of telemedicine in children with obstructive sleep apnea syndrome (OSAS), assessing its advantages and disadvantages. In patients with OSA, telemedicine is applicable at every stage of patient management, from diagnosis to treatment monitoring also in pediatric and adolescent ages. While telemedicine offers convenience and accessibility in healthcare delivery, its application in managing OSAS could be associated with some disadvantages, including limitations in physical examination, access to diagnostic tools, and education and counseling; technology barriers; and privacy concerns. The adoption of a hybrid approach, integrating both in-office and virtual appointments, could effectively meet the needs of children with OSAS. However, more studies are needed to fully assess the effectiveness and safety of telemedicine in the pediatric population.

Elexacaftor/tezacaftor/ivacaftor in people with cystic fibrosis and rare mutations.

INTRODUCTION: The triple combination of elexacaftor/tezacaftor/ivacaftor (ETI) has dramatically improved the outcome of people with Cystic Fibrosis (pwCF) with at least one F508del mutation. However, carriers of rare cystic fibrosis transmembrane conductance regulator (CFTR) variants are not candidates for this innovative treatment. METHODS: In this observational study, we report the results of the compassionate use of ETI in 10 pwCF carriers of rare mutations after 2 months of treatment. Rectal organoids and short-term cultures of nasal epithelium obtained from rectal suction biopsies and nasal brushing were obtained from four subjects. RESULTS: After 2 months of ETI, all patients (4 males, mean age 30.1 ± 13.3 years) showed a significant increase of FEV1% predicted values [+8.0 (3.5-12.7) %, p < 0.010], body mass index [+0.85 (0-1.22) kg/m2, p < 0.020] and cystic fibrosis questionnaire-revised [+19.5 (6.3-29.2) points, p < 0.009]. A significant decrease of sweat chloride concentration [-11.2 (-1.7 to -34.0) mmol/L, p < 0.020] and exacerbations [-1.5 (-2 to -1), p < 0.008] was also recorded. Overall, 7 out of 10 participants were considered full responders. All patients reported cough disappearance (n = 3) or reduction (n = 7). Long-term oxygen was discontinued in two out of three patients and one also stopped noninvasive ventilation and was removed from the lung transplantation waiting list. CONCLUSIONS: Despite the limited number of cases, our results support the use of CFTR modulators in patients with rare CFTR variants that are not currently approved for ETI in Europe.

Exercise-Induced Bronchoconstriction in Children: State of the Art from Diagnosis to Treatment.

Exercise-induced bronchoconstriction (EIB) is a common clinical entity in people with asthma. EIB is characterized by postexercise airway obstruction that results in symptoms such as coughing, dyspnea, wheezing, chest tightness, and increased fatigue. The underlying mechanism of EIB is not completely understood. "Osmotic theory" and "thermal or vascular theory" have been proposed. Initial assessment must include a specific work-up to exclude alternative diagnoses like exercise-induced laryngeal obstruction (EILO), cardiac disease, or physical deconditioning. Detailed medical history and clinical examination must be followed by basal spirometry and exercise challenge test. The standardized treadmill running (TR) test, a controlled and standardized method to assess bronchial response to exercise, is the most adopted exercise challenge test for children aged at least 8 years. In the TR test, the goal is to reach the target heart rate in a short period and maintain it for at least 6 min. The test is then followed by spirometry at specific time points (5, 10, 15, and 30 min after exercise). In addition, bronchoprovocation tests like dry air hyperpnea (exercise and eucapnic voluntary hyperpnea) or osmotic aerosols (inhaled mannitol) can be considered when the diagnosis is uncertain. Treatment options include both pharmacological and behavioral approaches. Considering medications, the use of short-acting beta-agonists (SABA) just before exercise is the commonest option strategy, but daily inhaled corticosteroids (ICS) can also be considered, especially when EIB is not controlled with SABA only or when the patients practice physical activity very often. Among the behavioral approaches, warm-up before exercise, breathing through the nose or face mask, and avoiding polluted environments are all recommended strategies to reduce EIB risk. This review summarizes the latest evidence published over the last 10 years on the pathogenesis, diagnosis using spirometry and indirect bronchoprovocation tests, and treatment strategies, including SABA and ICS, of EIB. A specific focus has been placed on EIB management in young athletes, since this condition can not only prevent them from practicing regular physical activity but also competitive sports.

Development of inhalation powders containing lactic acid bacteria with antimicrobial activity against Pseudomonas aeruginosa.

OBJECTIVES: The aim of the project was to develop and characterise powders containing a probiotic (Lactiplantibacillus plantarum [Lpb. plantarum], Lacticaseibacillus rhamnosus, or Lactobacillus acidophilus) to be administered to the lung for the containment of pathogen growth in patients with lung infections. METHODS: The optimised spray drying process for the powder manufacturing was able to preserve viability of the bacteria, which decreased of only one log unit and was maintained up to 30 days. RESULTS: Probiotic powders showed a high respirability (42%-50% of particles had a size < 5 µm) suitable for lung deposition and were proven safe on A549 and Calu-3 cells up to a concentration of 107 colony-forming units/mL. The Lpb. plantarum adhesion to both cell lines tested was at least 10%. Surprisingly, Lpb. plantarum powder was bactericidal at a concentration of 106 colony-forming units/mL on P. aeruginosa, whereas the other two strains were bacteriostatic. CONCLUSION: This work represents a promising starting point to consider a probiotic inhalation powder a value in keeping the growth of pathogenic microflora in check during the antibiotic inhalation therapy suspension in cystic fibrosis treatment regimen. This approach could also be advantageous for interfering competitively with pathogenic bacteria and promoting the restoration of the healthy microbiota.

Prevalence of Scoliosis in Children and Adolescents with Cystic Fibrosis.

The prevalence of scoliosis in people with cystic fibrosis (CF) seems to be greater than in the normal population. Over the last two years, a screening for spinal deformities was carried out in patients with CF aged 5 to 18 years, followed up at the CF regional Centre in Parma (Italy). Forty-three patients (twenty-seven males, mean age: 11.8 ± 4.5 years) were enrolled in the study. Nine patients (20.9%) were diagnosed with scoliosis, with a mean Cobb angle of 20.8 ± 9.4 (12-38°). Five patients (11.6%) were diagnosed with a postural kyphosis attitude and one with pathological fixed kyphosis. All patients with scoliosis and postural kyphosis started daily physiotherapeutic scoliosis-specific exercises (PSSE). Compared to people without CF, the prevalence of scoliosis in our paediatric CF population seems to be higher and more present in males; the curves were thoracic and mostly right-sided. CF disease, hyposthenic postural attitude and sedentary lifestyle can contribute to the pathogenesis of this musculoskeletal alteration. Spinal deformities may negatively affect pulmonary function, resulting in disability, pain and a decreased quality of life. Since the prevention of musculoskeletal deformities is easier than restoration, in CF population targeted screening during growth and interventions, including regular physical exercise, are mandatory.

Telemedicine and Its Application in Cystic Fibrosis.

The care of cystic fibrosis (CF) traditionally consists of regular visits to the clinic where a multidisciplinary team can visit the patient, adjust treatments and monitor the disease. During the COVID-19 pandemic when access to hospitals and medical environments was very limited, the role of telemedicine was crucial to keep in touch with patients with chronic diseases such as CF. Increasing evidence demonstrates that electronic health can successfully support healthcare professionals in the management of people with CF. The use of devices connected to digital platforms or smartphones results in a continuous flow of data that can be shared with the clinician and the team in order to improve the knowledge of patients' diseases and the level of care needed. This narrative review aims to describe the application of telemedicine in CF disease with pros and cons. A literature analysis showed that telemedicine has several advantages in the management of patients with CF. With the evolving support of digital technology, telemedicine can promote clinical visits, adherence to daily treatment, including respiratory physiotherapy and physical exercise, early identification of pulmonary exacerbations and management of psychological issues. The main disadvantages are missed physical exam findings, lack of physical contact that can prevent conversation on sensitive topics, lack of access to technology and lack of technological skills. Furthermore, healthcare operators need appropriate training for telemedicine systems and need time to organise and analyse data generated remotely, which may increase the burden of daily work. Hybrid personalised care models that marge telemedicine and traditional care can be an ideal solution.

Application of Metabolomics in Obesity-Related Childhood Asthma Subtyping: A Narrative Scoping Review.

Obesity-related asthma is a heterogeneous childhood asthma phenotype with rising prevalence. Observational studies identify early-life obesity or weight gain as risk factors for childhood asthma development. The reverse association is also described, children with asthma have a higher risk of being obese. Obese children with asthma have poor symptom control and an increased number of asthma attacks compared to non-obese children with asthma. Clinical trials have also identified that a proportion of obese children with asthma do not respond as well to usual treatment (e.g., inhaled corticosteroids). The heterogeneity of obesity-related asthma phenotypes may be attributable to different underlying pathogenetic mechanisms. Although few childhood obesity-related asthma endotypes have been described, our knowledge in this field is incomplete. An evolving analytical profiling technique, metabolomics, has the potential to link individuals' genetic backgrounds and environmental exposures (e.g., diet) to disease endotypes. This will ultimately help define clinically relevant obesity-related childhood asthma subtypes that respond better to targeted treatment. However, there are challenges related to this approach. The current narrative scoping review summarizes the evidence for metabolomics contributing to asthma subtyping in obese children, highlights the challenges associated with the implementation of this approach, and identifies gaps in research.

Nutritional Care in Children with Cystic Fibrosis.

Patients with cystic fibrosis (CF) are prone to malnutrition and growth failure, mostly due to malabsorption caused by the derangement in the chloride transport across epithelial surfaces. Thus, optimal nutritional care and support should be an integral part of the management of the disease, with the aim of ameliorating clinical outcomes and life expectancy. In this report, we analyzed the nutrition support across the different ages, in patients with CF, with a focus on the relationships with growth, nutritional status, disease outcomes and the use of the CF transmembrane conductance regulator (CFTR) modulators. The nutrition support goal in CF care should begin as early as possible after diagnosis and include the achievement of an optimal nutritional status to support the growth stages and puberty development in children, that will further support the maintenance of an optimal nutritional status in adult life. The cornerstone of nutrition in patients with CF is a high calorie, high-fat diet, in conjunction with a better control of malabsorption due to pancreatic enzyme replacement therapy, and attention to the adequate supplementation of fat-soluble vitamins. When the oral caloric intake is not enough for reaching the anthropometric nutritional goals, supplemental enteral feeding should be initiated to improve growth and the nutritional status. In the last decade, the therapeutic possibilities towards CF have grown in a consistent way. The positive effects of CFTR modulators on nutritional status mainly consist in the improvement in weight gain and BMI, both in children and adults, and in an amelioration in terms of the pulmonary function and reduction of exacerbations. Several challenges need to be overcome with the development of new drugs, to transform CF from a fatal disease to a treatable chronic disease with specialized multidisciplinary care.

Early Origins of Chronic Obstructive Pulmonary Disease: Prenatal and Early Life Risk Factors.

The main risk factor for chronic obstructive pulmonary disease (COPD) is active smoking. However, a considerable amount of people with COPD never smoked, and increasing evidence suggests that adult lung disease can have its origins in prenatal and early life. This article reviews some of the factors that can potentially affect lung development and lung function trajectories throughout the lifespan from genetics and prematurity to respiratory tract infections and childhood asthma. Maternal smoking and air pollution exposure were also analyzed among the environmental factors. The adoption of preventive strategies to avoid these risk factors since the prenatal period may be crucial to prevent, delay the onset or modify the progression of COPD lung disease throughout life.

Impact of SARS-CoV-2 Infection in Children with Asthma and Impact of COVID-19 Vaccination: Current Evidence and Review of the Literature.

The clinical aspects of SARS-CoV-2 infection, as well as the COVID-19 vaccines' safety, efficacy and effectiveness in pediatric patients with asthma, are crucial to adapting clinical management in this fragile population and for prevention strategies. The aim of this narrative review was to evaluate the impact of SARS-CoV-2 infection in children with asthma and the impact of COVID-19 vaccination. Systematic research using the principal medical databases was conducted using specific search query strings from the early spreading of COVID-19 globally until March 2023; further relevant data were drawn from the main national and supranational institutions. No significant differences in SARS-CoV-2 incidence and morbidity were found in asthmatic pediatric patients compared to non-asthmatic ones; however, subjects with uncontrolled asthma were found to be at increased risk of developing a serious disease during SARS-CoV-2 infection. Regarding COVID-19 vaccines, accumulating data support their safety, efficacy and effectiveness on asthmatic children regardless of asthma severity. Further cohort-based studies are needed as the evidence of new epidemic waves caused by new viral variants makes the current knowledge outdated.

The First-Line Approach in Children with Obstructive Sleep Apnea Syndrome (OSA).

Obstructive sleep apnea syndrome (OSA) is the main manifestation of sleep-disordered breathing in children. Untreated OSA can lead to a variety of complications and adverse consequences mainly due to intermittent hypoxemia. The pathogenesis of OSA is multifactorial. In children aged 2 years or older, adenoid and/or tonsil hypertrophy are the most common causes of upper airway lumen reduction; obesity becomes a major risk factor in older children and adolescents since the presence of fat in the pharyngeal soft tissue reduces the caliber of the lumen. Treatment includes surgical and non-surgical options. This narrative review summarizes the evidence available on the first-line approach in children with OSA, including clinical indications for medical therapy, its effectiveness, and possible adverse effects. Literature analysis showed that AT is the first-line treatment in most patients with adenotonsillar hypertrophy associated with OSA but medical therapy in children over 2 years old with mild OSA is a valid option. In mild OSA, a 1- to 6-month trial with intranasal steroids (INS) alone or in combination with montelukast with an appropriate follow-up can be considered. Further studies are needed to develop an algorithm that permits the selection of children with OSA who would benefit from alternatives to surgery, to define the optimal bridge therapy before surgery, to evaluate the long-term effects of INS +/- montelukast, and to compare the impact of standardized approaches for weight loss.

Impact of Age and Sex Interaction on Post-Acute Sequelae of COVID-19: An Italian Cohort Study on Adults and Children.

Identifying factors predisposing individuals to post-acute sequelae of COVID-19 (PASC) would allow for the timely treatment of those vulnerable. Attention on the role of sex and age is growing, but published studies have shown mixed results. Our objective was to estimate the effect modification of age on sex as a risk factor for PASC. We analyzed data from two longitudinal prospective cohort studies on adult and pediatric subjects positive to SARS-CoV-2 infection that were enrolled between May 2021 and September 2022. Age classes (≤5, 6-11, 12-50, >50 years) were based on the potential role of sex hormones on inflammatory/immune and autoimmune processes. A total of 452 adults and 925 children were analyzed: 46% were female and 42% were adults. After a median follow-up of 7.8 months (IQR: 5.0 to 9.0), 62% of children and 85% of adults reported at least one symptom. Sex and age alone were not significantly associated to PASC, but their interaction was statistically significant (p-value = 0.024): the risk was higher for males aged 0-5 (females vs. males HR: 0.64, 95% CI: 0.45-0.91, p = 0.012) and for females aged 12-50 (HR: 1.39, 95% CI: 1.04-1.86, p = 0.025), especially those in the cardiovascular, neurological, gastrointestinal and sleep categories. Further research on PASC with regard to sex and age is warranted.

Structural changes in lung morphology detected by MRI after modulating therapy with elexacaftor/tezacaftor/ivacaftor in adolescent and adult patients with cystic fibrosis.

INTRODUCTION: Elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) improves CFTR function in cystic fibrosis (CF) patients homozygous or heterozygous for F508del mutation. The aim of the study was to evaluate the response to ELX/TEZ/IVA treatment both clinically and morphologically in terms of bronchiectasis, bronchial wall thickening, mucus plugging, abscess and consolidations. METHODS: We retrospectively collected data from CF patients followed at Parma CF Centre (Italy) treated by ELX/TEZ/IVA between March and November 2021. Post-treatment changes in respiratory function, quality of life, sweat chloride concentration, body mass index, pulmonary exacerbations and lung structure by chest magnetic resonance imaging (MRI) were assessed. T2-and T1-weighted sequences were acquired with a 20 min-long scanning protocol on a 1.5T MRI scanner (Philips Ingenia) without administration of intravenous contrast media. RESULTS: 19 patients (32.5 ± 10.2 years) were included in the study. After 6 months of treatment with ELX/TEZ/IVA, MRI showed significant improvements in the morphological score (p < 0.001), with a reduction in bronchial wall thickening (p < 0.001) and mucus plugging (p 0.01). Respiratory function showed significant improvement in predicted FEV1% (58.5 ± 17.5 vs 71.4 ± 20.1, p < 0.001), FVC% (79.0 ± 11.1 vs 88.3 ± 14.4, p < 0.001), FEV1/FVC (0.61 ± 0.16 vs 0.67 ± 0.15, <0.001) and LCI2.5% (17.8 ± 4.3 vs 15.8 ± 4.1 p < 0.005). Significant improvement was found in body mass index (20.6 ± 2.7 vs 21.9 ± 2.4, p < 0.001), pulmonary exacerbations (2.3 ± 1.3 vs 1.4 ± 1.3 p 0.018) and sweat chloride concentration (96.5 ± 36.6 vs 41.1 ± 16.9, p < 0.001). CONCLUSIONS: Our study confirms the efficacy of ELX/TEZ/IVA in CF patients not only from a clinical point of view but also in terms of morphological changes of the lungs.

Primary ciliary dyskinesia: A multicenter survey on clinical practice and patient management in Italy.

INTRODUCTION: There are no recent data on primary ciliary dyskinesia (PCD) distribution, diagnosis and treatment in Italy. METHODS: 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. RESULTS: 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% follow <20 patients, two centers have >40 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 three 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 five centers. Genetic analysis is offered in 55% of the centers, and in seven centers >50% 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. CONCLUSIONS: 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.

Maintenance Therapy for Children and Adolescents with Asthma: Guidelines and Recommendations from the Emilia-Romagna Asthma (ERA) Study Group.

Asthma is the most frequent chronic disease of childhood, affecting up to 20% of children worldwide. The main guidelines on asthma maintenance therapy in pediatrics suggest different approaches and describe different stages of asthma to determine the most appropriate treatment. This project aims to summarize the most recent evidence regarding maintenance therapy for asthma in children and adolescents. A multidisciplinary panel of experts was asked clinical questions regarding the treatment of children and adolescents with asthma. Overall, 10 clinical questions were addressed, and the search strategy included accessing electronic databases and a manual search of gray literature published in the last 25 years. After data extraction and narrative synthesis of results, recommendations were developed using the Grading of Recommendations, Assessment, Development, and Evaluations (GRADE) methodology. Results showed that the choice of medication depends on the severity of the child's asthma, phenotype, age, preference, and individual factors. In addition to medications, the identification of comorbidities and modifiable factors is crucial to obtaining good control. Asthma in children is heterogeneous, and its evolution varies over time. Since most recommendations for asthma management in childhood are extrapolated from clinical studies performed in adults, more clinical trials specifically designed for young children should be conducted.