BVVL/ FL: features caused by SLC52A3 mutations; WDFY4 and TNFSF13B may be novel causative genes

Brown-Vialetto-Van Laere (BVVL) and Fazio-Londe are disorders with amyotrophic lateral sclerosis-like features, usually with recessive inheritance. We aimed to identify causative mutations in 10 probands. Neurological examinations, genetic analysis, audiometry, magnetic resonance imaging, biochemical and immunological testings, and/or muscle histopathology were performed. Mutations in known causative gene SLC52A3 were found in 7 probands. More importantly, only 1 mutated allele was observed in several patients, and variable expressivity and incomplete penetrance were clearly noted. Environmental insults may contribute to variable presentations. Putative causative mutations in other genes were identified in 3 probands. Two of the genes, WDFY4 and TNFSF13B, have immune-related functions. Inflammatory responses were implicated in the patient with the WDFY4 mutation. Malfunction of the immune system and mitochondrial anomalies were shown in the patient with the TNFSF13B mutation. Prevalence of heterozygous SLC52A3 BVVL causative mutations and notable variability in expressivity of homozygous and heterozygous genotypes are being reported for the first time. Identification of WDFY4 and TNFSF13B as candidate causative genes supports conjectures on involvement of the immune system in BVVL and amyotrophic lateral sclerosis

On a New Approach to SNR Estimation of BPSK Signals

Signal-to-noise ratio (SNR) information is required in many communication receivers and their proper operation is, to a large extent, related to the SNR estimation techniques they employ. Most of the available SNR estimators are based on approaches that either require large observation length or suffer from high computation complexity. In this paper, we propose a low complexity, yet accurate SNR estimation technique that is sufficient to yield meaningful estimation for short data records. It is shown that our estimator is fairly close to the (CRLB) for high SNR values. Numerical results also confirm that, in terms of convergence speed, the proposed technique outperforms the popular moment based method, M2M4

Impulsive noise reduction of a narrowband power line communication using optimal nonlinearity technique

In this paper, we propose an optimal Clipping/Blanking nonlinearity technique for impulsive noise reduction in narrowband (9 kHz-490 kHz) PLC system. This optimal technique is based on the minimum bit error rate (BER) search. For our simulation, we have derived the transfer function of a typical low voltage (LV) PLC network using the common bottom-up approach and scattering matrix method. Our simulation results, in terms of BER versus signal to noise ratio (SNR), show that the proposed technique improves the BER performance of the narrowband PLC system. © 2011 IEEE

A channel model for power line communication in the smart grid

Although Power Line Communication (PLC) is not a new technology, its use to support communication with low rate on low voltage (LV) distribution networks is still the focus of ongoing research. In this paper, we propose a PLC channel modeling method based on the bottom-up approach for LV PLC in a narrow, low frequency band between 9 kHz and 490 kHz. We employ the model to derive the transfer function of a typical LV PLC network, which is comprised of two common cable types (copper cables and aluminum conductor steel reinforced). We then investigate the multipath effect of the LV PLC in the studied low frequency bandwidth using numerical computations. Our simulation results based on the proposed channel model show an acceptable performance between neighboring nodes, in terms of bit error rate versus signal to noise ratio, which enables communication required for smart grid applications. Furthermore, we show that data transmission beyond one-hop communication in LV PLC networks will have to rely on upper layer protocols. © 2011 IEEE

The electromagnetic interference of mobile phones on the function of a γ-camera

PURPOSE: The aim of the present study is to evaluate whether or not the electromagnetic field generated by mobile phones interferes with the function of a SPECT γ-camera during data acquisition. METHODS: We tested the effects of 7 models of mobile phones on 1 SPECT γ-camera. The mobile phones were tested when making a call, in ringing mode, and in standby mode. The γ-camera function was assessed during data acquisition from a planar source and a point source of Tc with activities of 10 mCi and 3 mCi, respectively. A significant visual decrease in count number was considered to be electromagnetic interference (EMI). RESULTS: The percentage of induced EMI with the γ-camera per mobile phone was in the range of 0% to 100%. The incidence of EMI was mainly observed in the first seconds of ringing and then mitigated in the following frames. CONCLUSIONS: Mobile phones are portable sources of electromagnetic radiation, and there is interference potential with the function of SPECT γ-cameras leading to adverse effects on the quality of the acquired images. © 2013 by Lippincott Williams and Wilkins

Genome-wide nucleotide diversity and associations with geography, ploidy level and glucosinolate profiles in Aethionema arabicum (Brassicaceae)

The genus Aethionema is sister to the core Brassicaceae (including Arabidopsis thaliana) and thus has an important evolutionary position for comparative analyses. Aethionema arabicum (Brassicaceae) is emerging as a model to understand the evolution of various traits. We generated transcriptome data for seven Ae. arabicum genotypes across the species range including Cyprus, Iran and Turkey. Combined flow cytometry and single nucleotide polymorphism (SNP) analyses identified distinct tetraploid (Iranian) and diploid populations (Turkish/Cypriot). The Turkish and Cypriot lines had a higher genome-wide genetic diversity than the Iranian lines. However, one genomic region contained genes with a higher diversity in the Iranian than the Turkish/Cypriot lines. Sixteen percent of the genes in this region were chaperonins involved in protein folding.Additionally, an analysis of glucosinolate profiles, chemical defence compounds of the Brassicaceae, showed a difference in diversity of indolic glucosinolates between the Iranian and Turkish/Cypriot lines. We showed that different Ae. arabicumindividuals have different ploidy levels depending on their location (Iranian versus Turkish/Cypriot). Moreover, these differences between the populations are also shown in their defence compounds