Roberta Antona

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 different depending on individual and environmental factors. Environmental tobacco smoke (ETS) is one of the most important indoor air pollutants and can interact with other air pollutants in eliciting respiratory outcomes during childhood. The increased risk of respiratory outcomes in children exposed to prenatal and early postnatal passive smoke might be caused by an adverse effect on both the immune system and the structural and functional development of the lung; this may explain the subsequent increased risk of incident asthma. The magnitude of the exposure is quite difficult to precisely quantify because it is significantly influenced by the childs daily activities. Because exposure to ETS is a likely cause for asthma onset in childhood, there is a strong need to prevent infants and children from breathing air contaminated with tobacco smoke.

Array‐CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesis

Subtelomeric terminal 6p deletion has been recognized as a clinically identifiable syndrome including facial dysmorphism, malformation of the anterior eye chamber, hearing loss, heart defects, and developmental delay. Genotype–phenotype correlations of previously published patients have strongly suggested anterior eye segment anomalies as one of the major malformations of the syndrome if the critical 6p25 region contains the FOXC 1 gene. In addition, the presence in this region of one or more genes involved in hearing loss has been hypothesized. We report a patient with a 47,XYY karyotype and submicroscopic terminal 6p deletion. Further characterization of the deletion with array comparative genome hybridization also revealed a cryptic microduplication on chromosome 19. The patient showed dysmorphic features, neuromotor retardation, and profound language impairment, in absence of hearing loss and structural eye anomalies. As far as we know this is the first reported terminal 6p25.1 deletion case without eye dysgenesis precisely characterized by array‐CGH. Our result suggests that the genes in this region may not be obvious candidates for hearing loss and demonstrate the need for further elucidation of the function of the genes involved in eye developmental processes.

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 of multiple confounding factors and overlap between healthy and asthmatic populations preclude the routine application of FeNO reference values in clinical practice and suggest that it would be better to consider an individual “best”, taking into account the context in which the measurement is obtained and the clinical history of the patient. Besides, there is still disagreement about the role of FeNO as a marker of asthma control, due to the complexity of balance among the different items involved in its determination and the lack of homogeneity in the population groups studied in the few studies conducted so far. Heterogeneity of problematic severe asthma greatly limits utility of FeNO alone as a biomarker of inflammation to optimize the disease management on an individual basis. None of the studies conducted so far demonstrated that the use of FeNO was better than current asthma guidelines in controlling asthma exacerbations. In summary, there is a large variation in FeNO levels between individuals, which may reflect the natural heterogeneity in baseline epithelial nitric oxide synthase activity and/or the contribution of other noneosinophilic factors to epithelial nitric oxide synthase activity. FeNO is a promising biomarker, but at present some limits are highlighted. We would recommend that further research can be carried out by organizing studies aimed to obtain reliable reference values of FeNO and in order to better interpret FeNO measurements in clinical settings, taking also into account the influence of genetic and environmental factors.

Array-CGH defined chromosome 1p duplication in a patient with autism spectrum disorder, mild mental deficiency, and minor dysmorphic features†

Array-CGH Defined Chromosome 1p Duplication in a Patient With Autism Spectrum Disorder, Mild Mental Deficiency, and Minor Dysmorphic Features Maria Piccione, Vincenzo Antona, Roberta Antona, Giovanna Gambino, Mauro Pierluigi, Michela Malacarne, Simona Cavani, and Giovanni Corsello* Unit a Operativa di Pediatria e Terapia Intensiva Neonatale, Dipartimento Materno Infantile, Universit a degli Studi di Palermo, Palermo, Italy U.O.S. Centro per la Diagnosi e la Terapia delle Sindromi Autistiche, Palermo, Italy S.C. Laboratorio di Genetica, Dipartimento di Scienze Genetiche, Perinatali e Ginecologiche, E.O. Ospedali Galliera di Genova, Genova, Italy

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 (O3), sulfur dioxide (SO2), may provoke cytotoxic and functional damages in the airways through oxidative stress and inflammation. During the last decades the amount of pollutants from vehicular traffic has significantly increased, especially in urban areas. Recent epidemiological studies have shown that vehicular traffic represents the main source of outdoor pollutants and that it may increase the risk of respiratory outcomes (cough, phlegm, wheeze, asthma) in children through short-term and long-term effects on airways, lung function and allergic sensitization [1]. Indoor pollution is also particularly dangerous, mainly for children and adolescents, that typically spend most of the time in confined spaces (home, school and public spaces). Indoor pollutants concentration depends on external environmental pollutants filtered inside buildings, pollutants generated inside buildings (domestic work) and pollutants generated by personal activities. Combustion products (tobacco smoke and wood burning), CO, CO2, volatile organic compounds (VOC), microbial agents (fungi and bacterial endotoxins), organic products (pet derived and mite allergens, dampness, mold derived components) are the most important indoor pollutants. There is growing epidemiological evidence that indoor allergen exposure may contribute to the development of allergic respiratory symptoms, such wheezing, coughing and asthma in children [2]. Tobacco smoke is one of the environmental pollutants influencing morbidity and death rate in childhood as it is responsible for adverse health effects in both prenatal and postnatal life. 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), represents a new concept in the field of tobacco control [3]. Children still need to be protected with strict air quality standards, in order to improve their respiratory health. Therefore, policies that ensure better air quality are strongly desirable all over the world.

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 to international guidelines. Statistical analyses were performed using SPSS 19. 78 (45,9%) SHS exposed (SHSe) and 92 (54,1%) SHS non exposed (SHSne) asthmatic children were analyzed, aged 8.71±2.58 and 8.75±2.95, respectively. Exposure to maternal smoke in pregnancy was found only in SHSe (p <0.0001). With regard to SHSne, SHSe showed higher Body Mass Index (BMI) (19.50±4.17 vs 18.14±4.41, p <0.0044), higher percentage of the lower level of parental education (26.9% vs 13%, p <0.025). Moreover, SHSe showed a higher percentage of current exposure to pet (29.5% vs 16.3%, p <0.044) and at least one positive SPT, mainly indoor allergens (1.89 ±1.50 vs 1.45±1.39, p <0.062). No differences were found in pulmonary function tests (PFTs) and level of asthma even if SHSe showed more exacerbations than SHSne (3.19 ±4.23 vs 1.73±2.33, p <0.067). Exposure to SHS in children is associated with disadvantaged SES level and atopy.

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 to passive smoke: 49.4%M vs 33.3%F (p<0.086); exposure to only current maternal smoke: 24.7%M vs 11.1%F (p<0.070); current exposure to pet: 31.2%M vs 15.6%F (p<0.057); exclusive breast feeding (4mos): 33.8%M vs 53.3%F (p<0.034); BMI (Kg/m2):18.98±3.99M vs 17.95±2.94F (p<0.133); being overweight: 39%M vs 24.4%F (p<0.083). After stratifying by presence/absence of asthma, in those with R only (57, 46.7%): 42%M vs 53.3%F (p<0.267);VAS (mean±s.d.): 8.18±1.46 M vs 7.60±1.71F (p<0.099); PSQI (mean±s.d.): 2.33±1.53M vs 1.44±0.73F (p<0.009); FVC (%Pred) (mean±s.d.): 98.14±10.51M vs 103.27±7.83F (p<0.068); in those with rhinitis and asthma (RA, 65. 53.3%): 57.1%M vs 46.7%F (p<0.267); asthma severity level: intermittent, 32.5%M vs 11.1%F (p<0.008); moderate persistent, 9.1%M vs 15.6%F (p<0.063); rhinitis severity level: mild persistent 33.8% RA vs 17.5% R-only (p<0.041);VAS (mean±s.d.): 6.91±1.57 M vs 8.50±1.68F (p<0.010); food allergy 36.4%M vs 4.8%F (p<0.008). In conclusion, we have shown in a consecutive series of rhinitic patients that male gender is mainly associated with more frequent exposure to environmental and parental risk factor, burden of disease, pulmonary function tests and co-morbididy, but also with less severe rhinitis level. Further analyses on a larger series of pediatric patients are needed in order to assess the impact of gender differences on rhinitis management.

PA83 DOUBLE BLIND PLACEBO CONTROLLED FOOD CHALLENGE USEFUL TO DISCONFIRM OVER ESTIMATED DIAGNOSIS OF CMPA IN CHILDREN

Methods: 14 patients, (12 months-12 yrs) previously diagnosed as having CMPA, underwent our diagnostic algorithm in order to confirm or to exclude diagnosis. Diagnostic algorithm includes: total blood cell count, serum IgE assay, RAST, betalactotest, Prick by prick with fresh milk, chemical examination and eosinophilic cell count of the stools. DBPCFC was performed with extensively hydrolyzed formula (as placebo) VS a lactose-free, cow milk derived formula.