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The stimulatory G protein a subunit (Gsα) plays important roles in diverse cell processes including tumorigenesis. Activating mutations in Gsα gene (GNAS) have been reported to be associated with poor prognosis in various human carcinomas. Furthermore, Gsα signaling is crucial in promoting liver regeneration by interacting with growth factor signaling, indicating that Gsα might play a promoting role in cancer development. However, little is known about the correlation between Gsα levels and clinicopathological parameters in intrahepatic cholangiocarcinoma (ICC).

Myotonia congenita belongs to the group of non-dystrophic myotonia caused by mutations of CLCN1gene, which encodes human skeletal muscle chloride channel 1. It can be inherited either in autosomal dominant (Thomsen disease) or recessive (Becker disease) forms. Here we have sequenced all 23 exons and exon-intron boundaries of the CLCN1 gene, in a panel of 5 unrelated Chinese patients with myotonia congenita (2 with dominant and 3 with recessive form). In addition, detailed clinical analysis was performed in these patients to summarize their clinical characteristics in relation to their genotypes. Mutational analyses revealed 7 different point mutations. Of these, we have found 3 novel mutations including 2 missense (R47W, V229M), one splicing (IVS19+2T>C), and 4 known mutations (Y261C,G523D, M560T, G859D). Our data expand the spectrum of CLCN1 mutations and provide insights for genotype–phenotype correlations of myotonia congenita in the Chinese population.

Abstract: A low power high performance Delta-Sigma modulator for portable measurement applications is presented. To reduce power consumption while maintaining high performance, a fully feedforward architecture with a comprehensive system-level design is implemented. As a key building block, a novel power efficient current mirror operational transconductance amplifier (OTA) with a fast-settling less-error switched-capacitor common-mode feedback (SC CMFB) circuit is introduced, and the effects of both gain nonlinearity and 1/f noise of OTA are discussed. A new method to determine the voltage gain of an OTA is also proposed. The bottom terminal parasitic effect of poly-insulator-poly (PIP) capacitors is considered. About an extra 20% of capacitance is added to the total capacitance load. A power and area efficient resonator is adopted to realize a coefficient of 1/90 for 50% power and 75% area reduction compared with conventional designs. The chip is implemented in a low cost 0.35 μm complementary metal oxide semiconductor (CMOS) process. The total power consumption is 20 μW with a 1.5 V supply, and the measured dynamic range (DR) is 95 dB over a 1 kHz bandwidth. Experimental results show that a high figure-of-merit (FOM) is achieved for the designed modulator in comparison with those from the literature.

Text similarity measure is a common issue in Information Retrieval, Text Mining, Web Mining, Text Classification/Clustering and Document Copy Detection etc. The most popular approach is word frequency based scheme, which uses a word frequency vector to represent a document. Cosine function, dot product and proportion function are regular similarity measures of vector. But they are symmetric similarity measures, which cannot find out the subset copies. In this paper we present the concepts of asymmetric similarity model and heavy frequency vector (HFV). The former can detect subset copies well, and the latter can save a great resources and CPU time. We have developed two new asymmetric measures: heavy frequency vector (HFM) and Heavy inclusion proportion model HIPM. The HFM and HIPM are derived from cosine function and proportion function by combining asymmetric similarity concept with HFV. The HFV is to truncate the original full frequency vector to a short vector. We can adjust the parameter of HFV to balance the model’s performance. The paper illustrates the aspects of asymmetric similarity and HFV models by several experiments.

The VSM with TF-IDF is a popular approach to represent a document. But it is not very fit for clustering in a dynamic or changing corpus because we have to update the TF-IDF value of every dimension of every VSM vector when we add a new file into the corpus. Furthermore, popular feature selection methods, such as DF, IG and chi, need some global corpus information before clustering. We present the heavy frequency vector, which considers only the most frequent words in a document. Since an HFV does not contain any global corpus information, it is easy to implement incremental clustering, especially in dynamic or changing corpus. We compare the HFV-based K-means model with the traditional VSM-based K-means model with different feature selection methods. The results show that the HFV model has better precision than others. However, the complexity of HFV model is greater than others.

Background. HTRA2 has already been nominated as PARK13 which may cause Parkinson’s disease, though there are still discrepancies among these results. Recently, Gulsuner et al.’s study found that HTRA2 p.G399S is responsible for hereditary essential tremor and homozygotes of this allele develop Parkinson’s disease by examining a six-generation family segregating essential tremor and essential tremor coexisting with Parkinson’s disease. We performed this study to validate the condition of HTRA2 gene in Chinese familial essential tremor and familial Parkinson’s disease patients, especially essential tremor. Methods. We directly sequenced all eight exons, exon-intron boundaries, and part of the introns in 101 familial essential tremor patients, 105 familial Parkinson’s disease patients, and 100 healthy controls. Results. No exonic variant was identified, while one exon-intron boundary variant (rs2241028) and one intron variant (rs2241027) were detected, both with no clinical significance and uncertain function. There was no difference in allele, genotype, and haplotype between groups. Conclusions. HTRA2 exonic variant might be rare among Chinese Parkinson’s disease and essential tremor patients with family history, and HTRA2 may not be the cause of familial Parkinson’s disease and essential tremor in China.