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

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 …

Sindrome di Turner in mosaico in madre e figlia con anomalie del cariotipo apparentemente non correlate.

Patologia cromosomica rara: duplicazione 22qter

Triplice mutazione del gene della febbre mediterranea familiare in paziente con malattia di Kawasaki ed infezione da EBV

Espressività clinica in soggetti con mutazioni della marenostrina "asintomatiche": descrizione di una casistica.

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

Neuropatia periferica in corso di infezione da Helicobacter pylori e Mycoplasma Pneumoniae.

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…

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…

Medium-term effects of bisoprolol administration on renal hemodynamics and function in mild to moderate essential hypertension

Arterial hypertension is a significant cause of end-stage renal failure; effective treatment of hypertensive patients reduces the rate of progression of this disorder. ss-Blockers, particularly nonselective agents, are associated with deterioration of renal function in patients with chronic renal failure. Previous studies on the interaction of the beta1-selective adrenergic antagonist bisoprolol with kidney function have been performed only acutely and over the short term. This study was designed to evaluate the antihypertensive efficacy and effects on renal hemodynamics and function of bisoprolol during medium-term (6 mo) treatment of patients with mild to moderate essential hypertension. …

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…

Generalized anasarca as way of presentation of severe protein losing enteropathy.

Milk intolerance: a big trouble for little patients.

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…

Trattamento perinatale con un agonista serotoninergico e capacità di apprendimento nel ratto adolescente: interazione con una precoce manipolazione postnatale.

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 defect and developmental delay. Genotype –phenotype correlations of previously published patients have been strongly suggested anterior eye segment anomalies as one of major malformation of the syndrome if the critical 6p25 region containing the FOXC 1 gene. In addition it has been hypothesized the presence in this region of one or more genes involved in hearing loss. We report on a case of terminal 6p deletion in a 47, XYY karyotype. Further characterization of the deletion with array comparative genome hybri…

Programmi di sorveglianza nosocomiale: esperienza di una UTIN; XXXV Congresso Regionale SIP, X Congresso Regionale SIN, III Congresso Regionale SIMEUP, Ragusa 16-18 novembre 2006.

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 …

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…

ADOLESCENTE CON DATTILITE DELLE MANI DA INFEZIONE DA HELICOBACTER PYLORI

PA1 INFLIXIMAB AND TOPICAL TACROLIMUS ADMINISTRATION EFFECTIVE IN THE TREATMENT OF PYODERMA GANGRENOSUM

Amido di mais nel management della dumping syndrome: una lezione maturata dalla malattia di Von Gierke.

MALATTIA DI KAWASAKI ED INFEZIONE DA EBV IN PAZIENTE CON TRIPLICE MUTAZIONE DEL GENE DELLA FEBBRE MEDITERRANEA FAMILIARE

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…

DIAGNOSI E PROGNOSI DELLA MALATTIA DI KAWASAKI FRA MARKERS EMATOCHIMICI E CLINICI

Infliximab and topical tacrolimus administration effective in the treatment of Pyoderma Gangrenosum.

855 Double Blind Placebo Controlled Food Challenge Useful to Disconfirm Over Estimated Diagnosis of Cmpa in Children

Background and aims: The incidence of CMPA in infancy seems to be approximately 3%. In Italy diagnosis of CMPA is often over estimated. The double-blind, placebo controlled food challenge(DBPCFC) is widely considered as the “gold standard” for the diagnosis of food allergy. 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 la…