Francesca Santamaria

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OBJECTIVE To provide indications for high-resolution computed tomography (HRCT) of the chest in patients with cystic fibrosis (CF). DESIGN We compared the HRCT and conventional chest radiography (CCR) scores and assessed their correlation with clinical scores and pulmonary function tests. SETTING Department of Pediatrics, Federico II University, Naples,(More)
Pulmonary disease of unknown etiology is a potentially fatal complication in patients with lysinuric protein intolerance (LPI), an autosomal recessive disorder caused by the defective transport of cationic amino acids. Lung involvement was investigated in nine Italian LPI patients through pulmonary function tests and lung imaging studies consisting of(More)
BACKGROUND Primary ciliary dyskinesia (PCD) is a rare recessive hereditary disorder characterized by dysmotility to immotility of ciliated and flagellated structures. Its main symptoms are respiratory, caused by defective ciliary beating in the epithelium of the upper airways (nose, bronchi and paranasal sinuses). Impairing the drainage of inhaled(More)
We present a case of recurrent pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance. The recurrence of the pulmonary disease provides further insight regarding the possible pathogenesis of pulmonary alveolar proteinosis and therapeutic options for this complication.
BACKGROUND Primary ciliary dyskinesia (PCD) is characterised by recurrent infections of the upper respiratory airways (nose, bronchi, and frontal sinuses) and randomisation of left-right body asymmetry. To date, PCD is mainly described with autosomal recessive inheritance and mutations have been found in five genes: the dynein arm protein subunits DNAI1,(More)
BACKGROUND Non-cystic fibrosis (CF) bronchiectasis is now identified more often than in the past. OBJECTIVES It was the aim of this study to assess the high-resolution computed tomography (HRCT) localization and extent of bronchiectasis and to determine whether asthma status, atopy and bronchiectasis distribution are associated with the etiology of(More)
BACKGROUND Primary ciliary dyskinesia (PCD) is a rare, usually autosomal recessive disorder of ciliary dysfunction associated with lung involvement, which has a great impact on health. There is limited information concerning the aerobic fitness of children and adolescents with PCD. The aim of this study was to assess cardiopulmonary functional capacity and(More)
OBJECTIVES To characterize both proximal and distal esophageal acid exposure in children with gastroesophageal reflux-related respiratory disease and to investigate the usefulness of dual-channel intraesophageal pH monitoring in these patients. METHODS Continuous simultaneous recording of distal and proximal esophageal pH was performed in 40 patients with(More)
BACKGROUND Several studies reported low nasal nitric oxide (nNO) levels in subjects with primary ciliary dyskinesia (PCD) and proposed nNO measurement as a diagnostic tool to screen for the disease. All these reports used the aspiration nNO method. The goal of this study was to evaluate nNO in patients with PCD using different methods of NO measurement,(More)
The diagnosis of primary ciliary dyskinesia is often confirmed with standard, albeit complex and expensive, tests. In many cases, however, the diagnosis remains difficult despite the array of sophisticated diagnostic tests. There is no "gold standard" reference test. Hence, a Task Force supported by the European Respiratory Society has developed this(More)