Genomic rearrangement screening of the BRCA1 from seventy Iranian high-risk breast cancer families.

BACKGROUND: The second leading cause of cancer deaths in women is breast cancer. Germline mutations in susceptibility breast cancer gene BRCA1 increase the lifetime risk of breast cancer. Eighty-one large genomic rearrangements (LGRs) have been reported up to date in BRCA1 gene, and evaluation of these rearrangements helps with precise risk assessment in high-risk individuals. In this study, we have investigated LGRs in BRCA1 among Iranian high-risk breast cancer families. MATERIALS AND METHODS: Seventy patients with breast cancer who were identified negative for point mutations or small deletions/insertions of BRCA1 gene were selected. Deletions and duplications of BRCA1 gene were evaluated using multiplex ligation-dependent probe amplification (MLPA). RESULTS: Two deletions, deletion of exons 1A/1B-2 and exon 24, were detected in two patients with breast cancer. The former alteration was found in a woman with a strong family history of breast cancer while the latter one was detected in a woman with early onset of breast cancer. CONCLUSION: Although our data confirm that LGRs in BRCA1 comprise a relatively small proportion of mutations in hereditary breast cancer in the Iranian population, MLPA analysis might be considered for screening of LGRs in high-risk individuals. It is worth to note that our results are consistent with previous studies in various Asian and European countries.

The immediate effect of lateral wedge insoles, with and without a subtalar strap, on the lateral trunk lean motion in patients with knee osteoarthritis.

BACKGROUND: Orthotic interventions for knee osteoarthritis (OA) aim to reduce mechanical loading on the medial compartment of the knee and may lessen the lateral trunk lean as the most important compensatory gait strategy. The lateral wedge insole is a known orthotic intervention for knee OA. However, the question whether the addition of a subtalar strap to the wedge improves its effect has not been addressed in the literature. OBJECTIVE: To compare the effects of lateral wedge insoles, with and without a subtalar strap, on the lateral trunk lean in patients with knee OA. METHODS: Twenty-three patients aged over 40 years, with grade I or II OA of the medial compartment of one knee, based on the American College of Rheumatology criteria, were included in this study. The patients were diagnosed with OA based on a clinical examination, and the diagnosis was confirmed with radiographs. A 3-dimensional motion measurement system was used to collect the gait data for 3 different conditions: (1) with no insole, (2) with a lateral wedge insole, and (3) with a lateral wedge insole and a subtalar strap. The immediate effect of the 3 test conditions on the lateral trunk lean was compared during a gait cycle a stance phase and at the point of midstance. RESULTS: Based on the laboratory coordinate system, the 3 conditions had no significant effect on the lateral trunk lean during a gait cycle and a stance phase and at the point of midstance in patients with knee OA. CONCLUSION: The results of this study demonstrated that the lateral wedge insoles, with and without a subtalar strap, had no immediate effect on the lateral trunk lean in patients with knee OA. However, the long-term effect of lateral wedge insoles on the lateral trunk lean in these patients requires further investigation.