RESUMO
Although rare, adrenocortical carcinoma is among the most common tumors found in children with Li-Fraumeni syndrome and Li-Fraumeni-like syndrome, associated with germ-line mutations in the TP53 gene. In southern Brazil, one form of Li-Fraumeni syndrome, associated with childhood adrenocortical carcinoma, is caused by a mutation in the R337H TP53 tetramerisation domain and is attributed to a familial founder effect. Adrenocortical carcinoma is considered an aggressive neoplasm, usually of poor prognosis and is generally unresponsive to systemic chemotherapy. Optimal treatment regimens remain to be established. We report the case of a young woman with metastatic adrenocortical carcinoma, who achieved stable disease with mitotane, cisplatin, doxorubicin, and etoposide as first-line therapy, but then had an objective response to oral metformin that lasted 9 months. The presence of the R337H TP53 mutation suggests a mechanism for the observed response to metformin.
RESUMO
OBJECTIVES: Translate into Brazilian Portuguese, cross cultural adaptation and assess the reliability and validity of the Systemic Lupus Erythematosus Quality of Life Questionnaire (SLEQOL). STUDY POPULATION: 107 SLE patients, answered the SLEQOL questionnaire. TRANSLATION: into Portuguese and cross-cultural adaptation was performed in accordance with studies on questionnaire translation methodology into other languages. RELIABILITY: Was analyzed using three interviews with different interviewers, two on the same day (interobserver) and the third within 14 days of the first assessment (intraobserver). VALIDITY: Validity was assessed by correlating clinical and quality of life parameters with the SLEQOL. STATISTICAL ANALYSIS: A descriptive analysis of the study sample. Reproducibility was assessed using an intraclass correlation coefficient (ICC). Internal consistency was assessed using Cronbach's alpha coefficient. To assess validity we used Pearson's correlation coefficient. Five percent was the level of significance adopted for all statistical tests. RESULTS: The SLEQOL was translated and culturally adapted. The main findings were: a 0.807 internal consistency correlation coefficient for all questions and domains. The inter and intraobserver correlation coefficients were 0.990 and 0.969 respectively. Validation showed good correlation with theSF-36 and poor correlation with lupus activity or damage indices. CONCLUSIONS: The quality of life parameter has been increasingly taken into account for chronic diseases. To date there are no tools to assess Quality of Life in Systemic Lupus Erythematosus (SLE) written in the Portuguese language. The questionnaire is valid and reliable for SLE patients in Brazil.