Browsing by Author "Navarro, H"

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    A ten years experience in flexible bronchoscopy in pediatric patients
    (2003) Sanchez, I; Pesce, C; Navarro, H; Holmgren, L; Bertrand, P; Alvarez, C
    Background: Approximately a decade ago, pediatric flexible Bronchoscopy (FB) was introduced in Chile, after being used for several years in adults. Aim: To describe our clinical experience in FB in a ten year period. Patients and Methods: Records of procedures done between January 1993 and September 2002 at The Pediatric Service of the Catholic University Hospital, were retrospectively reviewed. We evaluated the clinical indications for the procedures in relation to patients age and the correlation between indications and FB findings. Results: A total of 700 procedures were performed during the period, 59% in men and 53% in patients younger than 1 year Seventy seven percent of procedures were done in an examination room, using a nasal approach. The main indication was visualization of the airway (49%). The most common clinical diagnosis, in descending order were: atelectasis, stridor and etiologic study of pneumonia by bronchoalveolar lavage (BAL). In children younger than 6 months the most common clinical diagnosis was stridor followed by atelectasis. The main diagnosis in the whole sample, reached by FB was atelectasis secondary to mucous plug. In children younger than 6 months, the main diagnosis was laryngomalacia . A positive microbial culture was obtained in 43% patients in whom BAL was done. Complications were uncommon (5%) and mostly mild. In 2.3% of cases, these were severe , such as bronchospasm and need,for mechanical ventilation. Severe complications were observed in patients younger than 3 months with severe stridor or in children with cancer, who required FB and BAL. Conclusions: Flexible bronchoscopy is a safe and useful procedure in pediatric patients.
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    Correlation between phenotype and genotype in a group of patients with cystic fibrosis
    (2002) Navarro, H; Kolbach, M; Repetto, G; Guirales, E; Harris, P; Foradori, A; Poggi, H; Sanchez, I
    Background: Cystic fibrosis (CF) is the most common lethal autosomic disease in Caucasians, with a global incidence of 1:3000 newborns. More than 900 mutations have been described, involving the Cystic Fibrosis Trains membrane Regulator (CFTR). The DeltaF508 mutation is present in 60% of alleles studied worldwide. Aim: To report 25 patients with cystic fibrosis in whom a genetic study was done. Material and methods: Twenty five patients (14 men, aged between 18 months and 25 years) with a diagnosis of cystic fibrosis based on clinical features plus two abnormal sweat tests are reported. The genetic study considered the 20 most common mutations in cystic fibrosis and was done in genomic DNA of peripheral lymphocytes, by polymerase chain reaction. Results: A mutation was found in 75% of analyzed alleles. DeltaF508 was present in 50% of cases (DeltaF508/DeltaF508 in 8 and DeltaF508/other in 11). When DeltaF508 was present, pancreatic insufficiency was always a feature and nutritional status was worse. Respiratory involvement was variable, both for homozygous and heterozygous cases. Other severe mutations such as W1282X and G542X were related to clinical manifestations similar to those found in DeltaF508 mutation. Diagnosis was made before six months of age in 12 patients. The clinical presentation was meconium dens and there was a family history of the disease in most cases. The majority of cases of early diagnosis presented severe mutation, but milder respiratory symptoms and lesser nutritional compromise at the time of assessment. Conclusions: Most patients studied had a severe cystic fibrosis mutation, which was associated with more severe respiratory, pancreatic and nutritional involvement. The early diagnosis of the disease, which would allow to improve the prognosis and the quality of life, must be emphasized.