Browsing by Author "Sánchez Díaz, Ignacio"
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- ItemApoyo ventilatorio domiciliario en niños con insuficiencia respiratoria crónica : Experiencia clínica(SOCIEDAD CHILENA DE PEDIATRIA, 2002) Sánchez Díaz, Ignacio; Valenzuela Sánchez, Astrid; Bertrand N., Pablo; Alvarez Garrido, Cecilia; Holmgren Palmen, Nils Linus Anders; Vilches Jofré, Sandra Patricia; Jerez Toro, Claudio Andrés; Ronco Macchiavello, Ricardo Arnoldo
- ItemAutoimmune curriculitis : A not so new curricular disease(SOC MEDICA SANTIAGO, 2009) Salas I., Sofía; Sánchez Díaz, Ignacio; Larios Goldenberg, Guillermo; Jeria Durán, Álvaro; Pertuzé S., Cristóbal
- ItemBreath sound analysis and wheezing in cystic fibrosis(SOCIEDAD CHILENA DE PEDIATRIA, 2003) Sánchez Díaz, Ignacio; Vizcaya Altamirano, María Cecilia; García Palomer, María Daniela
- ItemChest physiotherapy is not clinically indicated for infants receiving outpatient care for acute wheezing episodes(2014) Castro-Rodriguez, J. A.; Silva, R.; Tapia, P.; Salinas, P.; Tellez, Alvaro; Leisewitz, T.; Sánchez Díaz, Ignacio
- ItemClinical and epidemiological manifestations of parainfluenza infection in hospitalized children(SOC CHILENA INFECTOLOGIA, 2007) Vega Briceño, Luis Enrique; Pulgar B., Dahiana; Potin Santander, Marcela Patricia; Ferres Garrido, Marcela Viviana; Sánchez Díaz, Ignacio
- ItemClinical features of respiratory infections due to influenza virus in hospitalized children(SOC MEDICA SANTIAGO, 2005) Vega Briceño, Luis Enrique; Potin Santander, Marcela Patricia; Bertrand N., Pablo; Sánchez Díaz, Ignacio
- ItemControversies in the pharmacological management of acute asthma in children [Controvérsias no manejo farmacológico da asma aguda infantil](2002) Amantéa, Sérgio L.; Sánchez Díaz, Ignacio; Piva, Jefferson P.; Ramos García, Pedro Celiny
- ItemCorrelación genotipo-fenotipo de un grupo de pacientes con fibrosis quística(Soc. Médica Santiago, 2002) Navarro M., Héctor; Kolbach Rengifo, Marianne Helene; Repetto Lisboa, María Gabriela; Guiraldes Cameratti, Ernesto; Harris D., Paul R.; Foradori, Arnaldo; Poggi, Helena; Sánchez Díaz, IgnacioBackground: 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 Transmembrane Regulator (CFTR). The delta F508 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. delta F508 was present in 50% of cases (delta F508/delta F508 in 8 and delta F508/other in 11). When delta F508 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 W128X and G542X were related to clinical manifestations similar to those found in delta F508 mutation. Diagnosis was made before six months of age in 12 patients. The clinical presentation was meconium ileus and there was a family history of the disease in most cases. The majority of cases of early diagnosis presented severe mutations, 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.
- ItemCOVID-19 and Ethics : A Latin American Perspective(SAGE PUBLICATIONS INC, 2020) Sánchez Díaz, Ignacio; López Barreda, Rodrigo; Valera, Luca
- ItemEvaluation of the impact of a pharmaceutical care program in children with asthma(2003) González Martín, Guillermo; Joo, I.; Sánchez Díaz, Ignacio
- ItemLa fe que ilumina la razón(2013) Sánchez Díaz, Ignacio
- ItemHallazgos endoscópicos en niños con neumonía recurrente(SOCIEDAD CHILENA DE PEDIATRIA, 2004) Vega Briceño, Luis Enrique; Bertrand N., Pablo; Holmgren Palmen, Nils Linus Anders; Rodríguez Cuevas, José Ignacio; Sánchez Díaz, Ignacio
- ItemIncidence of bronchopulmonary dysplasia(SOCIEDAD CHILENA DE PEDIATRIA, 1990) Tapia Illanes, José Luis; Sánchez Díaz, Ignacio; Lara S., Ximena; Aguayo D., Gloria
- ItemPediatric Respiratory Medicine-An International Perspective(WILEY, 2010) Gappa, Monika; Ferkol, Thomas; Kovesi, Tom; Landau, Louis; McColley, Susanna; Sánchez Díaz, Ignacio; Tal, Asher; Wong, Gary W. K.; Zar, Heather
- ItemEl ranking de las notas : Inclusión con excelencia(2013) Gil Llambías, Francisco Javier; Paredes M., Ricardo; Sánchez Díaz, Ignacio
- ItemRelation of the brachial perimeter and some indicators of intrauterine growth(SOCIEDAD CHILENA DE PEDIATRIA, 1988) Sánchez Díaz, Ignacio; Cavagnaro Santa María, Carlos Felipe Gonzalo; Tapia Illanes, José Luis; Juez García, Gabriela
- ItemTracheal and lung sounds repeatability in normal adults(2003) Sánchez Díaz, Ignacio; Vizcaya Altamirano, Carlos Andrés
- ItemUtility of spirometry in 4 to 5 -years old preschool patients(SOCIEDAD CHILENA DE ENFERMEDADES RESPIRATORIAS, 2006) Hernández Canales, Jury Jephter; Sánchez Díaz, Ignacio; Aranda M., Daniella; Campos M., Eugenia; Holmgren Palmen, Nils Linus Anders; Bertrand N., Pablo; Caussade Larraín, Marie Solange