Feasibility of shotgun urinary proteomics for investigating prematurely born preschoolers (PBP)

Background: Preterms and twins are at higher risk of respiratory morbidity later in life. Advances in proteomic approaches may allow the characterization of biomarkers involved in respiratory diseases (Mauri et al. Imm. Lett. 2014;162:2-10). Gel-free approach quantitatively identify differentially expressed proteins in relation to physiopathological conditions (Mauri&Dehò, Meth Enzymology 2008;447:99-117). This can improve the clinical reliability of the next generation of biomarkers to discriminate multiple phenotypes of childhood respiratory diseases. Aim: To assess the ability of gel-free proteomics for identifying specific protein profiles related to PBP. Methods: Urine samples were…

RHINASTHMA-Adolescents: a new quality of life tool for patients with respiratory allergy

Background: Specific instruments for health-related quality of life (HRQoL) assessment in adolescents with rhinoconjunctivitis or asthma are available. None of them evaluates rhinitis and asthma together, although they often coexist. Our aim was to validate a HRQoL questionnaire for adolescents with rhinoconjunctivitis, asthma, or both. Methods: A pool of 38 items covering the main symptoms and problems related to respiratory allergy was generated based on literature review, clinical experience, and unstructured interviews to 54 adolescents. The items were randomly listed and presented to 88 consecutive outpatients (44 M; mean age 15.2 3.1). Patients had to indicate which item they had expe…

Efficacy of Buffered Hypertonic Saline Nasal Irrigation for Nasal Symptoms in Children with Seasonal Allergic Rhinitis: A Randomized Controlled Trial

<b><i>Background:</i></b> Saline nasal irrigation is labelled as an add-on treatment in patients with allergic rhinitis (AR). The primary aim of this study was to compare the efficacy of 21-day use of buffered hypertonic saline (BHS) versus normal saline solution (NSS) on reducing nasal symptoms in children with seasonal AR (SAR). Comparing their efficacy on nasal cytology counts (NCC), quality of life, and sleep quality was the secondary aim. <b><i>Methods:</i></b> In this 21-day,<b> </b>open-label, randomized controlled study, 36 SAR children (aged 6-13 years) with a Total 5 Symptom Score (T5SS) ≥5 received twice-daily BHS or NSS…

PD13 ‐ Gender differences in rhinitic children

Gender differential effects on rhinitis are infrequently studied. Aim of our study is to assess gender differences in host and environmental characteristics and in rhinitis severity level within the IBIM Pulmonary and Allergy Pediatric Clinic. A series of rhinitic (R) patients (September 2011 - May 2013) were investigated through standardized questionnaire and spirometry. Statistical analyses were performed with SPSS. Preliminary results refer to 122 R patients: 77 males (M) (63.1%) and 45 females (F) (36.9%); age (years): 9.23 ± 3.42M vs 9.38 ± 3.02F; maternal history of rhinitis: 45.5%M vs 32.3%F (p<0.090); exposure to maternal smoking during pregnancy:15.6%M vs 2.2%F (p<0.021); exposure …

Ipotiroidismo e sindrome di Down: valutazione su 328 soggetti in età evolutiva

Pain in paediatric hospital units

A Critical Review of Statistical Methods for Twin Studies Relating Exposure to Early Life Health Conditions

International audience; When investigating disease etiology, twin data provide a unique opportunity to control for confounding and disentangling the role of the human genome and exposome. However, using appropriate statistical methods is fundamental for exploiting such potential. We aimed to critically review the statistical approaches used in twin studies relating exposure to early life health conditions. We searched PubMed, Scopus, Web of Science, and Embase (2011–2021). We identified 32 studies and nine classes of methods. Five were conditional approaches (within-pair analyses): additive-common-erratic (ACE) models (11 studies), generalized linear mixed models (GLMMs, five studies), gene…

Pharmacogenomics: A Step forward Precision Medicine in Childhood Asthma.

Personalized medicine, an approach to care in which individual characteristics are used for targeting interventions and maximizing health outcomes, is rapidly becoming a reality for many diseases. Childhood asthma is a heterogeneous disease and many children have uncontrolled symptoms. Therefore, an individualized approach is needed for improving asthma outcomes in children. The rapidly evolving fields of genomics and pharmacogenomics may provide a way to achieve asthma control and reduce future risks in children with asthma. In particular, pharmacogenomics can provide tools for identifying novel molecular mechanisms and biomarkers to guide treatment. Emergent high-throughput technologies, …

Association between Asthma Control and Exposure to Greenness and Other Outdoor and Indoor Environmental Factors: A Longitudinal Study on a Cohort of Asthmatic Children

Achieving and maintaining asthma control (AC) is the main goal of asthma management. Indoor and outdoor environmental factors may play an important role on AC. The aim of this longitudinal study was to evaluate the association between AC and exposure to greenness and other outdoor or indoor environmental factors in a cohort of asthmatic children. This study involved 179 asthmatic children (5&ndash;16 years). Parents were interviewed through a modified version of the SIDRIA questionnaire. AC was assessed at each visit. Exposure to greenness was measured using the normalized difference vegetation index (NDVI). A logistic regression model was applied for assessing risk factors for uncontrolled…

Third-hand smoke exposure and health hazards in children

Smoking still represents a huge public health problem. Millions of children suffer the detrimental effects of passive smoking. An increasing number of countries have recently issued laws to regulate smoking in public places. Instead, homes remain a site where children are dangerously exposed to environmental tobacco smoke (ETS). The combination of tobacco smoke pollutants which remain in an indoor environment, the so-called ‘third-hand smoke’ (THS), represent a new concept in the field of tobacco control. THS consists of pollutants that remain on surfaces and in dust after tobacco has been smoked, are re-emitted into the gas-phase, or react with other compounds in the environment to form se…

Additional file 1: of Associations of greenness, greyness and air pollution exposure with childrenâ s health: a cross-sectional study in Southern Italy

Table S1. Risk factors for self-reported ocular, nasal, pulmonary and general symptoms from children questionnaires: estimated odds ratios (OR) and 95% confidence intervals (95% CI) from univariable logistic regression models. Table S2. Risk factors for self-reported ocular, nasal, pulmonary and general symptoms from children questionnaires: estimated odds ratios (OR) and 95% confidence intervals (95% CI) from multivariable logistic ridge regression models using the full quartile for NDVI and NO2. Table S3 Multivariable Poisson ridge regression models, using the full quartile for NDVI and NO2, for symptoms score: estimated rate ratios (RR) and 95% confidence intervals (95% CI). (DOCX 25 kb)

Latent class identification in wheezing preschool children

Background and aim Since the forced oscillation technique (FOT) has not been used in previous studies on wheezing phenotyping in preschool children, we applied FOT in a large series of outpatients visited at IBIM. Methods We analyzed 256 consecutively enrolled ≤5 years children with doctor diagnosis of wheezing. Latent Class Analysis (LCA) was performed considering the following personal characteristics: type, cause, recurrence in last 12 months, respiratory resistance (Avr_R(8)), atopy, history of eczema, rhinitis and upper airways infections. High resistance is defined as positive residual of regression on sex, age, height and weight. Risk factors were considered meaningful when they yiel…

Asthma-Related Knowledge and Practices among Mothers of Asthmatic Children: A Latent Class Analysis

Mothers&rsquo; knowledge about childhood asthma influences management practices and disease control, but validating knowledge/practice questionnaires is difficult due to the lack of a gold standard. We hypothesized that Latent Class Analysis (LCA) could help identify underlying mother profiles with similar knowledge/practices. A total of 438 mothers of asthmatic children answered a knowledge/practice questionnaire. Using answers to the knowledge/practice questionnaire as manifest variables, LCA identified two classes: Class 1, &ldquo;poor knowledge&rdquo; (33%); Class 2, &ldquo;good knowledge&rdquo; (67%). Classification accuracy was 0.96. Mothers in Class 2 were more likely to be aware of …

ENVIRONMENTAL EFFECTS ON FRACTIONAL EXHALED NITRIC OXIDE IN ALLERGIC CHILDREN

Fractional exhaled nitric oxide (FeNO) is a non-invasive marker of airway inflammation in asthma and respiratory allergy. Environmental factors, especially indoor and outdoor air quality, may play an important role in triggering acute exacerbations of respiratory symptoms. The authors have reviewed the literature reporting effects of outdoor and indoor pollutants on FeNO in children. Although the findings are not consistent, urban and industrial pollution—mainly particles (PM2.5 and PM10), nitrogen dioxide (NO2), and sulfur dioxide (SO2)—as well as formaldehyde and electric baseboard heating have been shown to increase FeNO, whilst ozone (O3) tends to decrease it. Among children exposed to …

Machine Learning: An Overview and Applications in Pharmacogenetics.

This narrative review aims to provide an overview of the main Machine Learning (ML) techniques and their applications in pharmacogenetics (such as antidepressant, anti-cancer and warfarin drugs) over the past 10 years. ML deals with the study, the design and the development of algorithms that give computers capability to learn without being explicitly programmed. ML is a sub-field of artificial intelligence, and to date, it has demonstrated satisfactory performance on a wide range of tasks in biomedicine. According to the final goal, ML can be defined as Supervised (SML) or as Unsupervised (UML). SML techniques are applied when prediction is the focus of the research. On the other hand, UML…

Associations of greenness, greyness and air pollution exposure with children's health: a cross-sectional study in Southern Italy

Background Due to the complex interplay among different urban-related exposures, a comprehensive approach is advisable to estimate the health effects. We simultaneously assessed the effect of “green”, “grey” and air pollution exposure on respiratory/allergic conditions and general symptoms in schoolchildren. Methods This study involved 219 schoolchildren (8–10 years) of the Municipality of Palermo, Italy. Data were collected through questionnaires self-administered by parents and children. Exposures to greenness and greyness at the home addresses were measured using the normalized difference vegetation index (NDVI), residential surrounding greyness (RSG) and the CORINE land-cover classes (C…

The Dietary Inflammatory Index and asthma burden in children: A latent class analysis

Introduction: Unbalanced dietary intake has been increasingly recognized as an important modifiable risk factor for asthma. In this study, we assessed whether a pro-inflammatory diet is associated with higher asthma burden in three steps: (1) identification of asthma latent classes (LC) based on symptoms, indoor exposures, and pulmonary function; (2) identification of risk factors associated with LC membership; and (3) estimation of the probabilities of LC membership with variation in DII. Methods: A cross-sectional study on 415 children aged 5–14 years (266 with persistent asthma and 149 controls). LC analysis was performed in asthmatic children. The DII was calculated based on a semiquant…

New insights in respiratory impedance in young children after repair of congenital diaphragmatic hernia: a cross-sectional study

Abstract Lung function impairment is common in Congenital Diaphragmatic Hernia (CDH) survivors. The aim of this study was to evaluate, in children who underwent CDH surgical repair, mid and long-term consequences on respiratory impedance, investigating the impact of CDH on both resistance and reactance parameters, as well as bronchodilator response. Forced Oscillation Technique (FOT) parameters were collected from 12 patients (2–11 years). Resistance and reactance values at 8 Hz (Rrs8, Xrs8) and the area under the reactance curve (AX) were measured pre and post-salbutamol. Quantitative variables were compared using Mann-Whitney U test. Differences of categorical variables were evaluated usi…

Rhinomanometry: point of care test (POCT) for allergic rhinitis in children?

Allergic rhinitis (AR) is a global health problem: its prevalence is 23% in Europe, although it is underestimated because as many as 45% of the cases remain undiagnosed. Globally, almost 500 million people suffer from AR, which shows its increasing incidences. The diagnostic course of AR is based on clinical history, supported by anterior rhinoscopy. This inspects the anterior part of the nasal cavity accompanied by allergic sensitivity tests (cutaneous allergic skin tests or specific immunoglobulin E levels). The availability of standardised diagnostic proceduresis able to provide objective evaluations of inflammatory situation, and the degree of nasal obstruction may give an advantage in …

Beclomethasone dipropionate hydrofluoroalkane for the treatment of allergic rhinitis

Allergic rhinitis (AR) is a common respiratory disease, and its prevalence is increasing all over the world, both in adults and in children. Patients experience symptoms that may negatively impact on physical, social and psychological well-being. Hence, if left untreated, allergic rhinitis may significantly affect quality of life. Under current guidelines, intranasal corticosteroids are considered the most effective drugs and they are recommended as first-line therapy. Among the several corticosteroid intranasal sprays available, beclomethasone dipropionate is one of the most prescribed. Recently, new intranasal hydrofluoroalkane-propelled formulations with little or no impact on the ozone …

Second hand smoke (SHS) exposure in asthmatic children is associated with social disadvantage and atopy

Shotgun Proteomics of Isolated Urinary Extracellular Vesicles for Investigating Respiratory Impedance in Healthy Preschoolers

Urine proteomic applications in children suggested their potential in discriminating between healthy subjects from those with respiratory diseases. The aim of the current study was to combine protein fractionation, by urinary extracellular vesicle isolation, and proteomics analysis in order to establish whether different patterns of respiratory impedance in healthy preschoolers can be characterized from a protein fingerprint. Twenty-one 3–5-yr-old healthy children, representative of 66 recruited subjects, were selected: 12 late preterm (LP) and 9 full-term (T) born. Children underwent measurement of respiratory impedance through Forced Oscillation Technique (FOT) and no significant differen…

Salt intake and asthma in children and adolescents

Asthma and air pollution

During the last decades research all over the world has highlighted the deleterious effects of pollution on respiratory health of adults and children. Nevertheless, air pollution still represents a significant threat to health. Children are more sensitive than adults to pollutants for several factors: increased respiration relative to body size; physiologic immaturity of respiratory and immunologic systems; low metabolic capacity; longer life expectancy. Several studies demonstrated an association between exposure to outdoor pollutants and respiratory diseases in childhood. Outdoor pollutants, such as nitrogen oxides (NOx), particulate (PM), carbon monoxide (CO), carbon dioxide (CO2), ozone…

Comparative Effect of Beclomethasone Dipropionate and Cetirizine on Acoustic Rhinometry Parameters in Children With Perennial Allergic Rhinitis: A Randomized Controlled Trial.

Background and objectives The effect of intranasal corticosteroids and oral antihistamines on acoustic rhinometry parameters has not been directly compared. The primary objective was to compare the effect of a 21-day course of treatment with nasal beclomethasone dipropionate (nBDP) with that of cetirizine (CTZ) on nasal patency measured using acoustic rhinometry in children with perennial allergic rhinitis (PAR). The secondary objective was to compare the effect of both drugs on nasal cytology, symptom severity, sleep quality, and quality of life. Methods In this 21-day, open-label, randomized controlled study, 34 children with PAR (age 6-14 years) with a Total 5-Symptom Score (T5SS) ≥5 rec…

Assessing Repeatability and Reproducibility of Anterior Active Rhinomanometry (AAR) in Children

AbstractBackgroundRepeatability and reproducibility are essential for clinicians for several purposes. Although discouraged, use of the Coefficient of Variation (CV) for assessing repeatability and reproducibility, rather than the Intraclass Correlation Coefficient (ICC), is still widespread. The aim of the present study was to highlight how using inappropriate indices may lead to misleading results, and this is done by simulation study and using real data on Anterior Active Rhinomanometry (AAR) in both healthy children and ones with rhinitis.MethodsA simulation study was carried out to highlight how using inappropriate indices could be misleading. Then a comparison was made between CV and …

New technologies for promoting physical activity in healthy children and in children with chronic respiratory diseases: A narrative review

Physical activity (PA) is proven to benefit children and adolescents in several ways. New technologies may provide children with stimulating modalities for organizing their leisure time, accessing fitness programs, and obtaining daily goal reminders and peer support. Due to the current COVID-19 pandemic, following WHO recommendations for PA is difficult for many children, especially for those living in urban areas. Therefore, the use of digital tools to support and maintain PA could be useful in healthy children, as well as in those with chronic respiratory diseases (CRDs). This narrative review aims to summarize the most recent evidence about the role of new technologies in promoting PA in…

VAS and PAQLQ association with level of asthma control by using C-ACT

Background: PAQLQ and C-ACT are standardized tool for assessment quality of life and asthma control in children.VAS (Visual Analogic Scale) is a scale for evaluation of the general wellness at the time of visit. Aim: To assess the relationships between VAS, PAQLQ and CACT in order to discriminate Controlled by Uncontrolled ones. Method: Cross-sectional study on 169 asthmatic children aged 5-11 yrs consecutively enrolled from Sept 2011 to Dec 2014 were studied. The Italian version of C-ACT and PAQLQ questionnaire were administered at baseline. Well controlled (WC) asthma and Uncontrolled/Partially controlled (UPC) resulted from C-ACT score &gt;19 and ≤19, respectively. Total score of PAQLQ r…

The value of FeNO measurement in childhood asthma: uncertainties and perspectives

Asthma is considered an heterogeneous disease, requiring multiple biomarkers for diagnosis and management. Fractional exhaled nitric oxide in exhaled breath (FeNO) was the first useful non-invasive marker of airway inflammation in asthma and still is the most widely used. The non-invasive nature and the relatively easy use of FeNO technique make it an interesting tool to monitor airway inflammation and rationalize corticosteroid therapy in asthmatic patients, together with the traditional clinical tools (history, physical examination and lung function tests), even if some controversies have been published regarding the use of FeNO to support the management of asthma in children. The problem…

Lower probability of FEV1 improvement in asthmatic children exposed to passive smoke

Background: Guidelines advocate the use of spirometry to assess lung function in asthmatic. Inhaled corticosteroid(ICS) therapy is a mainstay of treatment for asthma, but the clinical response is variable. Aim: To assess the time variation of FEV1% in treated children with Persistent Asthma (PA). Methods: 110 children with PA, with two visits between September 2011 and December 2014 at the IBIM pediatric clinic were studied. Spirometry was performed using Pony FX, Cosmed, Italy; values were expressed as %pred using GLI-2012equation. The time trend of FEV1% for each subject was estimated through separate regressions. A linear regression model for the individual slopes (FEV1% average month va…

A model-based approach for assessing bronchodilator responsiveness in children: The conventional cutoff revisited

An increase in FEV1 >=12% has been proposed in international guidelines as a clue to airway reversibility for diagnosing asthma in both adults and children. However, the validity of this cut-off has been questioned in the pediatric population. The aim of this study was to provide evidence that different cut-off values in BDR may be associated with better performance in discriminating among outpatient children with naïve asthma (A) and without asthma (NA). We compared three approaches: i) the conventional cutoff (12%); ii) the cut-off estimated by Youden's criteria; and iii) the cut-off based on a model-driven approach. we found that the conventional cut-off of 12% showed poor sensitivity in…

Endotyping allergic rhinitis in children: A machine learning approach.

Introduction: The diversity of allergic rhinitis (AR) phenotypes is particularly evident in childhood, suggesting the need to analyze and identify new approaches to capture such clinical heterogeneity. Nasal cytology (NC) is a very useful diagnostic tool for identifying and quantifying nasal inflammation. Data-driven approaches such as latent class analysis (LCA) assign subjects to classes based on their characteristics. We hypothesized that LCA based on NC, including the assessment of neutrophils, eosinophils, and mast cells, may be helpful for identifying AR endotypes in children. Methods: A total of 168 children were enrolled. Sociodemographic characteristics and detailed medical history…

Nasal budesonide efficacy for nasal nitric oxide and nasal obstruction in rhinitis

Nasal nitric oxide (nNO) is a noninvasive tool that may be helpful in evaluating the inflammatory status in the upper airways [1]. Previous studies report that nNO is elevated in children with Allergic Rhinitis (AR) [2], especially in perennial sensitized subjects [3], and that it may be affected by topical administration of intranasal steroids (INSs) [4]. This article is protected by copyright. All rights reserved.

Traffic proximity and lung function. A case-control study in asthmatic children

Introduction: Respiratory conditions are strongly dependent on air pollution. Urban areas are typically characterized by risky environmental conditions. Objectives: To analyze the effect of traffic proximity on asthma and to explore the relationship between level of traffic proximity and lung function in asthmatic and non- asthmatic children. Methods: A case-control study on children visited for suspected respiratory diseases at IBIM from 2011 to 2014 was performed. All the children have been geocoded according to their residence address. Exposure to traffic air pollution was assessed through determination of number and types of streets in proximity of the place of residence. The relationsh…

Inquinamento ambientale, fumo e asma grave

The health burden of air pollution on the world’s children is immense. Environmental factors are responsible for an estimated 26% of all children’s death worldwide. A large body of research exists on the effects of air pollution on children’s health, including effects on fetal growth, birth outcomes, lung development and function, asthma, respiratory infection and otitis media. It is also clearly linked to a higher risk of developing asthma, a major cause of morbidity in children. Indoor environments contribute significantly to total human exposure to air pollutants. Overall, people spend most time indoors. Pollutants remain in the air longer inside than outside. Some pollutants may be two …

Rhinomanometry: point of care test (POCT) for allergic rhinitis in children?

Allergic rhinitis (AR) is a global health problem: its prevalence is 23% in Europe, although it is underestimated because as many as 45% of the cases remain undiagnosed. Globally, almost 500 million people suffer from AR, which shows its increasing incidences. The diagnostic course of AR is based on clinical history, supported by anterior rhinoscopy. This inspects the anterior part of the nasal cavity accompanied by allergic sensitivity tests (cutaneous allergic skin tests or specific immunoglobulin E levels). The availability of standardised diagnostic procedures is able to provide objective evaluations of inflammatory situation, and the degree of nasal obstruction may give an advantage in…

Validity and repeatability of the Pediatric Allergy Questionnaire for Athletes (AQUAped) for the screening of atopy.

BACKGROUND High atopy prevalence has been reported in athletes. Having an age-specific questionnaire for predicting atopy is important for an optimal management of young athletes. The study objectives were as follows: (i) developing a scoring system for the Pediatric Allergy Questionnaire for Athletes (AQUAped); (ii) identifying the optimal age target within the range 7-14 years; (iii) assessing AQUAped validity and repeatability in the identified target population. METHODS A total of 133 young athletes (age 7-14 years) were recruited. Following a screening visit, the participants filled AQUAped at baseline (T0) and after 7 days (T1), concomitantly undergoing skin prick testing. Using atopy…

Smoke exposure as a risk factor for asthma in childhood: A review of current evidence

Asthma is a common chronic multifactorial disease that affects >300 million people worldwide. Outdoor and indoor pollution exposure has been associated with respiratory health effects in adults and children. Smoking still represents a huge public health problem and millions of children suffer the detrimental effects of passive smoke exposure. This study was designed to review the current evidences on exposure to passive smoke as a risk factor for asthma onset in childhood. A review of the most recent studies on this topic was undertaken to provide evidence about the magnitude of the effect of passive smoking on the risk of incidence of asthma in children. The effects of passive smoking are …

Measuring lung function in asthmatic children: A spirometry and forced oscillation technique (FOT) comparison

Background: Spirometry is the most common pulmonary function test used in asthma diagnosing. However, it requires good patient co-operation. FOT has gained increasing attention for the measurement of pulmonary function in children because it is performed at steady state breathing. Aim: To compare spirometry and FOT in order to discriminate severity of asthma according to GINA. Methods: Spirometry and FOT were performed in 176 out-patient asthmatic children (5-16 year), 100 (57%) with naive Persistent Asthma (PA) and 76 (43%) with Intermittent Asthma (IA), consecutively enrolled at the IBIM pediatric clinic. Two principal component analyses (PCA) were performed, the first (PCA1) based on FEV…

PD48 - Relationship between Second Hand Smoke (SHS) exposure and atopy in social disadvantaged asthmatic children

The evidence of a relationship between second hand smoke (SHS) exposure and atopy is inadequate. Smoke habit prevalence is higher in lower parental educational levels. The aim of this study was to investigate the relationship between SHS and atopy in asthmatic children focusing on socioeconomic status (SES). We studied 170 outpatient asthmatic children with different levels of asthma (GINA guidelines). Medical history was taken in standardized way to determine prevalence of SHS exposure and maternal smoking during pregnancy. Information about the highest level of parental education was collected as a proxy of SES level. All patients underwent skin prick test (SPT) and spirometry according t…

Development of a nomogram to estimate the quality of life in asthmatic children using the Childhood Asthma Control Test

Background: Pediatric Asthma Quality of Life Questionnaire (PAQLQ) provides detailed information on QoL in asthmatic children, whereas Childhood Asthma Control Test (C-ACT) Questionnaire is the most validated instrument for asthma control. No study assessed the relationship between C-ACT and QoL in children by means of those instruments. The aim of this study was to determine whether a QoL estimation is possible using the C-ACT questionnaire in asthmatic children. Methods: Medical history, spirometry, C-ACT, and PAQLQ were assessed in 144 (60% male) outpatient asthmatic children from September 2011 to November 2014. A generalized linear model (GLM) for the prediction of PAQLQ was obtained t…

A Methodological Framework to Discover Pharmacogenomic Interactions Based on Random Forests

The identification of genomic alterations in tumor tissues, including somatic mutations, deletions, and gene amplifications, produces large amounts of data, which can be correlated with a diversity of therapeutic responses. We aimed to provide a methodological framework to discover pharmacogenomic interactions based on Random Forests. We matched two databases from the Cancer Cell Line Encyclopaedia (CCLE) project, and the Genomics of Drug Sensitivity in Cancer (GDSC) project. For a total of 648 shared cell lines, we considered 48,270 gene alterations from CCLE as input features and the area under the dose-response curve (AUC) for 265 drugs from GDSC as the outcomes. A three-step reduction t…

Sindrome di Cornelia de Lange con deficit parziale di 21-Idrossilasi: segnalazione di una possibile associazione

"Un Caso Interessante di Trombofilia in età evolutiva"

Complicanze endocrine nella talassemia: studio di 256 pazienti

RAPP-children: A new tool for assessing quality of life in patients with asthma and rhinitis

Background: RhinAsthma Patient Perspective (RAPP) is a short, validated questionnaire for assessing health-related quality of life (HRQoL) in adult patients with comorbid asthma and rhinitis, while a paediatric version is still not available. Objective: The current study aimed to develop and validate the RAPP-children questionnaire. Methods: RAPP-children was derived by combining RhinAsthma-children subscales into five unique items. At baseline (T0) and after 30 days (T1), 150 children (6-11 years) with comorbid asthma (predominantly intermittent or mild persistent) and rhinitis were given the following: RAPP-children, RhinAsthma-children, Paediatric Asthma Quality of Life Questionnaire (PA…

Osteogenesi imperfetta e deficit di GH: descrizione di una rara associazione.

Targeting quality of life in asthmatic children: The MyTEP pilot randomized trial

Abstract Background Quality of life (QoL) is an important outcome in the management of children with asthma. Mobile Health (m-Health) and Therapeutic Education Programs (TEPs) are increasingly recognized as essential components of pediatric asthma management to improve disease outcomes. Objective To evaluate the effect of an education program (MyTherapeutic Education Program, MyTEP) that couples multidisciplinary TEP intervention with an m-Health Program (mHP) in improving QoL in asthmatic children. Methods This single-center study employed a nonblinded randomized clinical trial design. Italian-speaking children (6–11 years) with mild-moderate asthma were eligible for participation. Partici…

Asthma control, severity and lung function impairment through network analysis in children

Background: Achieving and maintaining asthma control in children is the primary goal recommended by current guidelines. Aim: To identify risk factors associated with Asthma control and severity, as well as their relative weight. Methods: Within a consecutive series of outpatients visited in a three years period at the IBIM pediatric clinic, we selected 128 persistent asthmatics. A standardized medical interview was carried out to collect information on environmental risk factors, symptoms and comorbidities. Spirometry was performed using Pony FX, Cosmed, Italy; spirometric values were expressed as %pred using GLI-2012equation. Statistical analyses were performed by using R. Results: The ide…

Endotyping Seasonal Allergic Rhinitis in Children: A Cluster Analysis.

BackgroundSeasonal Allergic Rhinitis (SAR) is a heterogeneous inflammatory disease. We hypothesized that a cluster analysis based on the evaluation of cytokines in nasal lavage (NL) could characterize distinctive SAR endotypes in children.MethodsThis cross-sectional study enrolled 88 children with SAR. Detailed medical history was obtained by well-trained physicians. Quality of life and sleep quality were assessed through standardized questionnaires [Pediatric Rhinoconjunctivitis Quality of Life Questionnaire (PRQLQ) and Pittsburgh Sleep Quality Index (PSQI) respectively]. Children were grouped through K-means clustering using Interleukin (IL)-5, IL-17, IL-23, and Interferon (INF)-γ in NL.R…

Effects of Polycyclic Aromatic Hydrocarbons on Lung Function in Children with Asthma: A Mediation Analysis.

Studies investigating the association between urinary Polycyclic Aromatic Hydrocarbons (PAHs) and asthma in children provided inhomogeneous results. We aimed to use Mediation Analysis to discover whether a link between urinary PAHs and lung function exists and if it might be ascribed to a direct or a symptom-mediated (indirect) effect in children with asthma. This single-center prospective study was conducted in Palermo, Italy, between March and July 2017 and involved 50 children with persistent mild-moderate asthma, aged 6–11 years. At each time visit (day 0, 30, 60, and 90), physical examination, spirometry, and urine collection for detection of urinary cotinine and PAHs were performed. A…

25-Hydroxyvitamin D, IL-31, and IL-33 in Children with Allergic Disease of the Airways

Low vitamin D is involved in allergic asthma and rhinitis. IL-31 and IL-33 correlate with Th2-associated cytokines in allergic disease. We investigated whether low vitamin D is linked with circulating IL-31 and IL-33 in children with allergic disease of the airways. 25-Hydroxyvitamin D [25(OH) Vit D], IL-31, and IL-33 plasma levels were measured in 28 controls (HC), 11 allergic rhinitis (AR) patients, and 35 allergic asthma with rhinitis (AAR) patients. We found significant lower levels of 25(OH) Vit D in AR and in AAR than in HC. IL-31 and IL-33 plasma levels significantly increased in AAR than HC. IL-31 and IL-33 positively correlated in AR and AAR. 25(OH) Vit D deficient AAR had higher l…

Asthma Comorbidities: Frequency, Risk Factors, and Associated Burden in Children and Adolescents

Identifying asthma comorbidities in children is fundamental for improving disease management. We aimed to investigate the frequency of allergy-related comorbidities in children and adolescents with asthma, and to identify associated risk factors and disease burden. Between September 2015 and December 2018, 508 asthmatic patients (5&ndash;17 years) were consecutively enrolled. Parents answered a standardized questionnaire on the history of disease and risk factors. Comorbidities were classified based on the involvement of respiratory and/or extra-respiratory districts: asthma only (A, 13%), asthma with respiratory comorbidities (AR, 37%), asthma with extra-respiratory comorbidities (AER, 10%…

DOLORE NELLE EMOGLOBINOPATIE COSTITUZIONALI

RHINASTHMA-Children: A new quality of life tool for patients with respiratory allergy

Background Specific instruments for health-related quality of life (HRQoL) assessment in adolescents with rhinoconjunctivitis or asthma are available. None of them evaluates rhinitis and asthma together, although they often coexist. Our aim was to validate a HRQoL questionnaire for adolescents with rhinoconjunctivitis, asthma, or both. Methods A pool of 38 items covering the main symptoms and problems related to respiratory allergy was generated based on literature review, clinical experience, and unstructured interviews to 54 adolescents. The items were randomly listed and presented to 88 consecutive outpatients (44 M; mean age 15.2 ± 3.1). Patients had to indicate which item they had expe…