Browsing by Author "Alvarez, C"

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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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    Incidence of BRCA1 and BRCA2 mutations in 54 Chilean families with breast/ovarian cancer, genotype-phenotype correlations
    (2006) Gallardo, M; Silva, A; Rubio, L; Alvarez, C; Torrealba, C; Salinas, M; Tapia, T; Faundez, P; Palma, L; Riccio, M; Paredes, H; Rodriguez, M; Cruz, A; Rousseau, C; King, M; Camus, M; Alvarez, M; Carvallo, P
    Our aim was to analyze the incidence of mutations in BRCA1 and BRCA2 genes in 54 families with breast/ovarian cancer. Families were selected from three Institutions following the standard criteria for hereditary breast/ovarian cancer. PCR amplification of all exons was performed, followed by SSCP, heteroduplex, PTT and sequencing analysis. We identified eight truncation mutations, three in the BRCA1 gene and five in the BRCA2 gene. Three of these mutations have not been reported previously by other groups: 308insA in one family, 3936 C > T in two families, for BRCA1, and 4970insTG in one family for BRCA2. In addition two families having Ashkenazi Jewish ancestors present the well known mutations 185delAG and 6174delT. Interestingly, 5 out of 11 families have mutations recurrent in Spanish families. Among the 54 families selected, seven have breast and ovary cancer cases, and only two presented a mutation in BRCA1 or BRCA2 genes. Other cancers as prostate and stomach are frequent among relatives carrying the mutation. Five cases of very early onset (< 31 years old) breast cancer were detected. The frequencies of BRCA1 (0.074) and BRCA2 (0.13) mutations in our families is low but similar to the incidence found in other populations, like in Spain. Since is widely known that risk factors that modulate the development of breast cancer such as lifestyle risk factors, geographic location, country of origin and socioeconomic status, besides a familial history of breast cancer our findings suggest that the history of colonization and immigrations is very relevant when studying hereditary factors associated to breast cancer.