Gianni Mastella

International practice patterns by age and severity of lung disease in cystic fibrosis: data from the Epidemiologic Registry of Cystic Fibrosis (ERCF).

The Epidemiologic Registry of Cystic Fibrosis provides clinical profiles for more than 6,800 patients and descriptions of practice patterns across eight European countries. Preliminary cross‐sectional analysis has been performed by age and pulmonary function as an assessment of disease severity. In general, pulmonary treatments including inhaled bronchodilators and rhDNase increased as lung disease became more severe. Use of a number of treatments, including mucolytic agents and inhaled corticosteroids, varied markedly from country to country. Several widely used therapies are not yet supported by controlled clinical trials, particularly in patients under 6 years of age. Nutritional intervention was more common in patients with advanced lung disease regardless of age. Patients with nasal polyps had less severe lung disease at each age than patients without polyps. It is clear that studies of early interventions are needed to determine the optimal types of treatments and the ages at which to begin treatment. Pediatr. Pulmonol. 1997;24:147–154.

Update of literature from cystic fibrosis registries 2012–2015. Part 6: Epidemiology, nutrition and complications

Patient registries provide useful information to afford more knowledge on rare diseases like Cystic Fibrosis (CF). Twenty‐two studies originating from national CF registries, focusing on demographics, survival, genetics, nutritional status, and non‐pulmonary complications, were published between December 2011 and March 2015. The purpose of this review article is to examine these reports, aiming attention to the clinical characteristics of CF patients included in the registries, current, and estimated future epidemiological data, the role of gender gap, the increasing survival in different countries. Some studies offer insights into pubertal growth and non‐pulmonary complications, such as liver disease, nephropathy, and cancer. Pediatr Pulmonol. 2017;52:390–398.

The Association of Supernumerary Microtubules and Immotile Cilia Syndrome and Defective Neutrophil Chemotaxis

Several ciliary defects are associated with poor motility or immotility of respiratory cilia. The defects include abnormalities in the axonemal structures or in the basal apparatus (1). Patients suffering from immotile cilia syndrome (ICS) show a heterogeneous clinical disease in which respiratory symptoms (viz. bronchiectasis, chronic bronchitis, otitis media) related to the ciliary dysfunction may be associated with other pathological conditions (i.e. situs viscerum inversus and male infertility). Even if numerous studies in humans and in experimental animals provide more information to explain, a t molecular level, the association between ICS and the above mentioned pathological states, to date, the association between ICS and a defective neutrophil chemotaxis is still object of debate (2). This report deals with four unrelated female patients (aged from 7 to 20 years) suffering from ICS in which a peculiar defect in ciliary configuration was found to be associated with a defective neutrophil chemotaxis. ICS was diagnosed by studying the mucociliary clearance and by examining the ultrastructural morphology of nasal cilia. Nasal mucociliary clearance time was tested by the saccharin method, measuring the time between placing saccharin (1 mm diameter particle) on the inferior turbinate and the moment when the subject tasted its sweetness on swallowing (3). Neutrophil chemotaxis was assessed, in symptom-free periods, “in vivo” and “in vitro” according to Senn (4) and Wilkinson ( 5 ) , respectively. In all patients immunological data were normal, whereas “in vivo” (36.1-17.6-15.9-16.1 x 10’ cells/cm2/24 h; normal values 68+ 10) and “in vitro” (chemotactic index: 121-123-119-1 13; normal values 145+ 11) neutrophil chemotaxis was impaired. The saccharin test (two or more different evaluations for each subject) was abnormal in all patients. In particular the clearance time (reference values 8-30 min) was >60 min in 3 patients, and about 50 min in one of the patients (50-52-55 min). The ultrastructural examination of respiratory cilia showed in all patients the presence of additional solitary peripheral microtubules outside or inside the 9+2 complex (Fig. 1). Cilia with axonemal supernumerary microtubules are reported to be associated to a ciliary dyskinesia (actually those cilia are classified as type V dyskinetic cilia) (1). Although data reported by several authors showed that an impairment of neutrophil chemotaxis is not a constant feature in ICS, the data presented here strongly suggest that a defective neutrophil

Cilia-lacking respiratory cells in ciliary aplasia

This report describes the ultrastructural alterations observed in the nasal and bronchial mucosa of an 11‐yr‐old male suffering from immotile cilia syndrome (ICS).

An overview of international literature from cystic fibrosis registries. Part 5: Update 2012–2015 on lung disease

Patient registry data is a tool for defining the clinical course and risk factors in patients with less common diseases like Cystic Fibrosis. Forty‐one registry‐based reports on lung disease in Cystic Fibrosis were published between 2011 and 2015. The aim of this review is to describe and discuss the results of these reports, focusing on the risk factors for lung disease progression, specific microbiologic pathogens (e.g., non‐tuberculous mycobacteria), disease complications, comparisons between registries of different countries, the impact of socio‐economic status, and evaluation of benefits and costs of therapies. Techniques for improved clinical trial design were also studied. Pediatr Pulmonol. 2016;51:1251–1263.