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.

Evaluation of Dysphagia and Inhalation Risk in Neurologically Impaired Children Using Esophageal High-Resolution Manometry with Swallowing Analysis.

BACKGROUND: Dysphagia in neurologically impaired children is associated with feeding difficulties, malnutrition and aspiration pneumonia. Esophageal high-resolution manometry (HRM) has been used in the diagnosis of motility disorders affecting the swallowing process. The aim of this study was to analyze swallowing functions in NI children by using HRM in order to establish swallow parameters identifying inhalation risk. METHODS: Twenty-five NI children with cerebral palsy were submitted to esophageal HRM with UES analysis, comparing the results with non-NI children. The following parameters were evaluated: maximum pressure and duration of contraction of the velopharynx (VP) and tongue base (TB), and maximal, minimal, resting pressure and relaxation duration of the upper esophageal sphincter (UES). RESULTS: pVP max, pTB max, pUES max and resting pressure were lower, while p UES minimal was higher and relaxation duration was shorter in NI children vs. the control group. Predictive values of inhalation risk were evaluated. CONCLUSIONS: This study evaluates inhalation risk in NI children using HRM to study UES function. Our results confirm the alterations described in NI children: insufficient contraction and clearing force for bolus transmission through the pharynx and incomplete UES relaxation can predispose to pharyngeal residues and inhalation independently of swallowing because of lower values of UES resting.

Association of Blattella germanica sensitization with atopic diseases in pediatric allergic patients.

BACKGROUND: The extent to which the sensitization to the German cockroach Blattella germanica (BG) affects onset/presence of rhinoconjunctivitis (RC) in children is unknown. OBJECTIVES: The present work was aimed to assess the prevalence of BG sensitization in an outpatient pediatric population from an allergy clinic, the association with allergic diseases, and the effect of age in children with allergic sensitization. METHODS: Five hundred and four consecutive children with at least one positive skin test to a panel of 17 food and inhalant allergens, including BG, and with personal history of atopic diseases, were enrolled in an Allergy Unit of Palermo, Mediterranean area of Southern Italy. A questionnaire was administered to obtain data on epidemiologic and clinical characteristics. Atopy index was computed as the number of the individual positive skin prick tests. Logistic regression was used to estimate the associations between age classes and BG sensitization and RC, as well as the population-attributable risk (PAR) for RC. RESULTS: Prevalence of BG sensitization was 10.5% (5.2% and 15.8% in lower and upper age classes respectively, p=0.0001). Atopy index significantly increased from the lower to the higher age class (p<0.0001). The older age class (OR 3.12; 95% CI 1.57-6.19) and a higher atopy index (OR 37.16; 95% CI 5.04-274.13) were recognized as main risks factors for BG sensitization. CONCLUSION: In the upper age class, the PAR of BG sensitization for RC was 20.6%. BG sensitization increases in the higher ages, along with atopic index, and BG sensitization is associated with rhinoconjunctivis in older allergic children.