Identifications using mtDNA are time consuming, expensive and can be very complex, depending on the amount and nature of the material being
tested. The main goal of this work is to develop a less labour-intensive and less expensive screening method for mtDNA analysis, in order to aid in the exclusion of non-matching samples and as a presumptive test prior to final confirmatory DNA sequencing. We have selected 14 highly discriminatory single nucleotide polymorphisms (SNPs) based on simulations performed by Salas and Amigo (2010) [1] to be typed using SNaPShot Batimastat (TM) (Applied Biosystems, Foster City, CA, USA). The assay was validated by typing more than 100 HVS-1/HVS-2 sequenced samples. No differences were observed between the SNP typing and DNA sequencing when results were compared, with the exception of allelic dropouts observed in a few haplotypes. Haplotype diversity simulations were performed using 172 mtDNA sequences representative of the Brazilian population and a score of 0.9794 was obtained when the 14 SNPs were used, showing that the theoretical prediction approach for the selection of highly discriminatory SNPs suggested by Salas and Amigo (2010) [1] was confirmed in the population studied. As the main goal of the work is to develop a screening assay to skip the sequencing selleck compound library of all samples in a particular case, a pair-wise
comparison of the sequences was done using the selected SNPs. When both HVS-1/HVS-2 SNPs were used for simulations, at least two
differences were observed in 93.2% of the comparisons performed. The assay was validated with casework samples. Results show that the method is straightforward and can be used for exclusionary purposes, AC220 saving time and laboratory resources. The assay confirms the theoretic prediction suggested by Salas and Amigo (2010) [1]. All forensic advantages, such as high sensitivity and power of discrimination, as also the disadvantages, such as the occurrence of allele dropouts, are discussed throughout the article. (C) 2013 Elsevier Ireland Ltd. All rights reserved.”
“Purpose To assess the short term efficacy of Cyberknife stereotactic radiosurgical treatment of trigeminal neuralgia (TN).\n\nMethods 17 consecutive patients with medically or surgically refractory unilateral TN were treated with Cyberknife radiosurgery. Using superimposed CT cisternogram and MR images, the target segment of the trigeminal nerve was consistently defined as a 6 mm length of nerve approximately 2-3 mm distal to the dorsal root entry zone of the brainstem. A radiosurgical rhizotomy was performed with the Cyberknife utilizing a single collimator to deliver an average maximum dose of 73.06 Gy (range 72.91-73.73) to the target.\n\nResults Follow-up data were available for 16 of the 17 patients post-treatment (range 1-27 months, average 11.8 months).