RESUMO
BACKGROUND: Children's interstitial lung diseases (chILD) comprise a broad spectrum of diseases. Besides the genetically defined surfactant dysfunction disorders, most entities pathologically involve the alveolar surfactant region, possibly affecting the surfactant proteins SP-B and SP-C. Therefore, our objective was to determine the value of quantitation of SP-B and SP-C levels in bronchoalveolar lavage fluid (BALF) for the diagnosis of chILD. METHODS: Levels of SP-B and SP-C in BALF from 302 children with chILD and in controls were quantified using western blotting. In a subset, single-nucleotide polymorphisms (SNPs) in the SFTPC promoter were genotyped by direct sequencing. RESULTS: While a lack of dimeric SP-B was found only in the sole subject with hereditary SP-B deficiency, low or absent SP-C was observed not only in surfactant dysfunction disorders but also in patients with other diffuse parenchymal lung diseases pathogenetically related to the alveolar surfactant region. Genetic analysis of the SFTPC promoter showed association of a single SNP with SP-C level. CONCLUSION: SP-B levels may be used for screening for SP-B deficiency, while low SP-C levels may point out diseases caused by mutations in TTF1, SFTPC, ABCA3, and likely in other genes involved in surfactant metabolism that remain to be identified. We conclude that measurement of levels of SP-B and SP-C was useful for the differential diagnosis of chILD, and for the precise molecular diagnosis, sequencing of the genes is necessary.
Assuntos
Líquido da Lavagem Broncoalveolar/química , Doenças Pulmonares Intersticiais/diagnóstico , Proteína B Associada a Surfactante Pulmonar/análise , Proteína C Associada a Surfactante Pulmonar/análise , Transportadores de Cassetes de Ligação de ATP/genética , Adolescente , Bronquite/genética , Estudos de Casos e Controles , Criança , Pré-Escolar , Comorbidade , Proteínas de Ligação a DNA/genética , Deficiências do Desenvolvimento/genética , Feminino , Heterogeneidade Genética , Genótipo , Humanos , Síndromes de Imunodeficiência/genética , Lactente , Doenças Pulmonares Intersticiais/genética , Masculino , Polimorfismo de Nucleotídeo Único , Regiões Promotoras Genéticas/genética , Precursores de Proteínas/genética , Proteolipídeos/genética , Proteinose Alveolar Pulmonar/diagnóstico , Proteinose Alveolar Pulmonar/genética , Proteína B Associada a Surfactante Pulmonar/deficiência , Proteína B Associada a Surfactante Pulmonar/genética , Proteína C Associada a Surfactante Pulmonar/química , Proteína C Associada a Surfactante Pulmonar/deficiência , Proteína C Associada a Surfactante Pulmonar/genética , Análise de Sequência de DNA , Fatores de Transcrição , Adulto JovemRESUMO
INTRODUCTION: To study the results in cervical carcinoma after a combined treatment with surgery and radiotherapy with regard to survival and side effects. METHODS: A retrospective analysis of 71 patients who underwent radical hysterectomy and postoperative radiotherapy between January 1, 1987, and December 31, 2001, was performed. RESULTS: Median follow-up periods were 162 months for surviving patients and 62 months for deceased patients. The 5-year overall survival and disease-specific survival for all stages were 80.3% and 82.7%, respectively. The 5-year actuarial incidence of late reactions for grade 1 + 2 was as follows: for upper gastrointestinal tract, 36%; for rectum, 37%; for urinary tract, 19%; for vagina, 26%; and for lymph edema, 19%. The 5-year actuarial incidence of late reactions for grade 3 + 4 was as follows: for upper gastrointestinal tract, 12%; and for rectum, 3%. CONCLUSIONS: Careful pretreatment workup and well-defined criteria for postoperative radiotherapy are essential, and new treatment options such as intensity-modulated radiation therapy should be considered.