RESUMO
BACKGROUND: Patients with chronic liver diseases (CLD) may have compromised health related quality of life (HRQoL). Hepatitis B virus (HBV) infection has long been the leading cause of CLD including liver cancer and cirrhosis. Knowledge on different symptom profiles of CLD should help in development of comprehensive treatment and patient care plans. OBJECTIVE: To access the facets of HRQoL in chronic liver diseases throughout their spectrum of severity. MATERIALS AND METHODS: A cross-sectional study was conducted in the First Affiliated Hospital of Kunming Medical University in Yunnan Province of China. Both out- and inpatients undergoing treatment protocols for different HBV related liver disease states were consecutively collected from December 2012 to June 2013. ANOVA was used to compare the mean scores of EQ-5D and chronic liver disease questionnaire (CLDQ) among 5 disease groups. The relationship between demographic variables predicting global CLDQ scores and the domains of CLDQ was analysed. RESULTS: A total of 1040 patients including 520 without complications, 91 with compensated cirrhosis, 198 with decompensated cirrhosis, 131 with HCC and 100 with liver failure were recruited. All domains of CLDQ, the means of EQ-5D value and EQ VAS exhibited significant decline with worsening of disease severity from uncomplicated HBV to liver failure. The multivariate regression demonstrated the reduction of mean scores of CLDQ domain at advanced stage. Patients with liver failure and HCC had more HRQoL impairment than other disease states. No effect of patient gender was found. Patient age was associated with 'fatigue' and 'worry' domains (p=0.006; p=0.004) but not with other domains and global scores of CLDQ and ED-5D. CONCLUSIONS: The HRQoL in chronic hepatitis B patients is greatly affected by disease states. Care for HBV-related diseases should consider not only the outcomes of treatment strategies but also improvement in patient wellbeing.
Assuntos
Nível de Saúde , Hepatopatias/fisiopatologia , Hepatopatias/psicologia , Qualidade de Vida , Índice de Gravidade de Doença , Adulto , China/epidemiologia , Doença Crônica , Estudos Transversais , Feminino , Seguimentos , Humanos , Hepatopatias/epidemiologia , Masculino , Pessoa de Meia-Idade , Prognóstico , Inquéritos e QuestionáriosRESUMO
OBJECTIVE: To explore the potential roles of mitochondrial DNA somatic mutations in benign breast disease based on the entire genome of mitochondrial DNA and elucidate the relationship between benign breast disease and breast cancer. METHODS: The genomic DNA of tumor tissue and peripheral blood in 28 benign breast disease patients with an average age of 33 years (range: 30 - 50) were extracted respectively. According to the revised Cambridge reference sequence and phylogenetic tree reconstruction, the mutations were identified and distinction was made between somatic mutations and private mitochondrial DNA mutations by haplogroup. RESULTS: Seven somatic mutations were detected. One mutation was located in the control region whereas the other six lied in the coding region. Further analyses revealed that, out of these 6 coding-region mutations, 4 were non-synonymous and would introduce the changes of amino acids. CONCLUSION: The mutations of mitochondrial DNA may play potential roles in the occurrence and development of benign breast disease.
Assuntos
DNA Mitocondrial/genética , Doença da Mama Fibrocística/genética , Mutação , Adulto , Neoplasias da Mama/genética , Neoplasias da Mama/patologia , Análise Mutacional de DNA , DNA de Neoplasias/genética , Feminino , Doença da Mama Fibrocística/patologia , Genoma Mitocondrial , Humanos , Pessoa de Meia-IdadeRESUMO
OBJECTIVE: To investigate the correlation of somatic mutations in whole genome of mitochondrial DNA (mtDNA) in patients with breast tumor. METHODS: The DNA of tumor tissue and peripheral blood in 4 benign breast tumor patients from August 2009 to December 2009 in our hospital were extracted. The mtDNA whole genomes were amplified by polymerase chain reaction (PCR) and the mutations of products screened by sequencing to compare the difference of mutation distribution between tumor tissue and peripheral blood. The likelihood of somatic mutations in tumor tissue was determined. RESULTS: The mutation spectrum of mtDNA genomes was obtained by PCR and sequencing. Then a phylogenetic tree was constructed to identify their haplogroups (D4i, G1, R9b, N9a). Their private mutations in peripheral blood were detected and the somatic mutation at 16292 position was found in one patient (haplogroups: R9b). CONCLUSION: Based on the extensively study on the mtDNA genomes from the tumor issues of 4 patients, our current report observed only a single somatic variation from the control region, no any further mutations with potential function from the coding region were observed.