SNPs array karyotyping reveals a novel recurrent 20p13 amplification in primary myelofibrosis.

The molecular pathogenesis of primary mielofibrosis (PMF) is still largely unknown. Recently, single-nucleotide polymorphism arrays (SNP-A) allowed for genome-wide profiling of copy-number alterations and acquired uniparental disomy (aUPD) at high-resolution. In this study we analyzed 20 PMF patients using the Genome-Wide Human SNP Array 6.0 in order to identify novel recurrent genomic abnormalities. We observed a complex karyotype in all cases, detecting all the previously reported lesions (del(5q), del(20q), del(13q), +8, aUPD at 9p24 and abnormalities on chromosome 1). In addition, we identified several novel cryptic lesions. In particular, we found a recurrent alteration involving cytoband 20p13 in 55% of patients. We defined a minimal affected region (MAR), an amplification of 9,911 base-pair (bp) overlapping the SIRPB1 gene locus. Noteworthy, by extending the analysis to the adjacent areas, the cytoband was overall affected in 95% of cases. Remarkably, these results were confirmed by real-time PCR and validated in silico in a large independent series of myeloproliferative diseases. Finally, by immunohistochemistry we found that SIRPB1 was over-expressed in the bone marrow of PMF patients carrying 20p13 amplification. In conclusion, we identified a novel highly recurrent genomic lesion in PMF patients, which definitely warrant further functional and clinical characterization

Confidence Interval of Peak-Based Distance Estimation in Diffusive Molecular Communication

Molecular Communication (MC) is a bio-inspired communication paradigm, where chemical signals (molecules) carry information. Using molecules as information carriers, rather than electrons or electromagnetic waves, allows communication in environments not considered before, as inside the human body or between nano-machines. This form of communication is particularly interesting due to its simplicity and the low energy cost with respect to the other communication systems.In this article, a specific aspect, which has been not given much attention in literature yet, is examined. Starting from the impulse response estimated for an MC diffusive channel between a point transmitter and a fully absorbing receiver in a three-dimensional space, the confidence interval of the distance from transmitter to receiver is estimated, based on the peak value of the channel impulse response. The analysis adopts the well-known Clopper-Pearson method for confidence interval evaluation