Tehran University Medical Journal

Background and Aim: Measuring the outcome of chronic diseases such as multiple sclerosis is an important factor in assessment of disease impact on different dimensions of quality of life and in evaluation of therapeutic interventions. The aim of this study was to perform the cross-cultural adaptation of the MSIS-29 which is a MS-specific outcome measure for Iranian patients.

Materials and Methods: The Iranian adaptation process of the MSIS-29 included 5 steps. To evaluate psychometric properties of the translated version, the questionnaire was administered to a consecutive sample of 96 patients with clinically definite MS referred to our out-patient clinic. Test-retest reliability was assessed in a sub-sample consisted of 30 patients. These patients completed the questionnaire on two occasions separated by a 7-day interval. The Iranian version of the SF-36 was also administered to this sub-sample in order to evaluate the validity of translated MSIS-29.

 Results: Statistical analysis indicated that the Persian version of the MSIS-29 had high internal consistency (cronbach’s alpha coefficients > 0.70) and test-retest reliability (intra-class correlation coefficients >0.70) and a good validity.

Conclusion: The Persian version of the MSIS-29 is a reliable and valid instrument for measuring MS outcome in Iranian patients. It can be used in clinical trials and cross-sectional studies.

Normal 0 false false false EN-US X-NONE AR-SA MicrosoftInternetExplorer4 Background: Breast cancer is the most common form of hereditary cancer worldwide and is an important cause of morbidity and mortality. Approximately 5-10% of breast and ovarian cancers are due to the highly penetrating germline mutations in cancer predisposing genes. Two genes, BRCA1 and BRCA2, account for at least half of these cases. The demand for BRCA1 and BRCA2 mutation screening is rapidly increasing as their identification will affect the medical management of people at increased risk for the disease. Therefore, the aim of this study was to investigate BRCA1/2 mutations in 100 high risk Iranian families.
Methods:  One hundred families who met the minimal risk factors for breast/ovarian cancer were screened among the families referred to Kawsar Human Genetics Research Center for the diseases in 2009-2011. The entire coding sequences and each intron/exon boundaries of BRCA1/2 genes were screened for by direct sequencing and MLPA in both patients and the controls.
Results:  In the present study, we could detect the following novel mutations: p.Gly1140Ser, p.Ile26Val, p.Leu1418X, p.Glu23Gln, p.Leu3X, p.Asn1403His, p.Asn1403Asp, p.Lys581X, p.Pro938Arg, p.Thr77Arg, p.Leu6Val, p.Arg7Cys, p.Leu15Ile, p.Ser177Thr, IVS7+83(-TT), IVS8 -70(-CATT), IVS2+9(G>C), IVS1-20(G>A), IVS1-8(A>G), p.Met1Ile, IVS2+24(A>G), IVS5-8 (A>G), IVS2(35-39)TTcctatGAT, IVS13+9 G>C in BRCA1 and p.Glu1391Gly, p. Val1852Ile, IVS6-70(T>G), 1994-1995 (InsA) in BRCA2.
Conclusion: Ten mutations seemed to be pathogenic and the disease-causing mutations were seen in 16% of the families. In addition, from the total number of substitutions and reassortments (42), 80% related to BRCA1 and 20% to mutations in BRCA2 genes.