A novel dominant mutation in the SOX10 gene in a Chinese family with Waardenburg syndrome type II.

Waardenburg syndrome type 2 (WS2) is a rare genetic disorder, characterized by bright blue eyes, moderate to profound hearing loss and pigmental abnormalities of the hair and skin. Between 10 and 20 mutations in the SRY­box 10 (SOX10) gene were previously identified to be associated with WS2. The present study aimed to identify the genetic causes of WS2 in a Chinese family. Clinical and molecular analyses were performed to genetically characterize a Chinese family with two cases of WS2. The clinical data of the proband were collected using a questionnaire. The genomic DNA was extracted from peripheral blood samples of each individual in the family, and 168 candidate genes associated with hearing loss were sequenced using the Illumina HiSeq 2000 and confirmed by Sanger sequencing. A heterozygous nonsense mutation [substitution; position 127; cytosine to thymine (c.127C>T)] was identified in exon 2 of SOX10 (transcript ID: NM_006941.3) in the proband and the mother; however, not in other family members or healthy controls. The novel nonsense heterozygous mutation may cause the replacement of codon 43 [arginine (Arg)] with a stop codon (Arg43stop), leading to premature termination of protein translation. The novel nonsense heterozygous mutation c.127C>T in the SOX10 gene was considered to be the cause of WS2 in the family. This mutation has not been identified in any databases, to the best of the authors' knowledge, including The Single Nucleotide Polymorphism Database, The Human Gene Mutation Database, 1000 Genomes Project and ClinVar and Exome Sequencing Project v. 6500.

Schisandrin B alleviates acute oxidative stress via modulation of the Nrf2/Keap1-mediated antioxidant pathway.

Schisandrin B (Sch B), one of the main effective components of the dried fruit of Schisandra chinensis, protects neurons from oxidative stress in the central nervous system. Here we investigated the neuroprotective effect of Sch B against damage caused by acute oxidative stress and attempted to define the possible mechanisms. Using the elevated plus maze and open field test, we found that forced swimming, an acute stressor, significantly induced anxiety-like behavior that was alleviated by oral Sch B treatment. In addition, the Sch B treatment reduced toxicity, malondialdehyde levels, and production of reactive oxygen species, an important factor for neuron damage. Antioxidants under the control of the nuclear factor erythroid 2-related factor 2 (Nrf2) pathway, such as superoxide dismutase and glutathione, were significantly increased by Sch B treatment. Moreover, a higher percentage of intact cells in the amygdala of treated mice, revealed by Nissl staining, further verified the neuroprotective effect of Sch B. Several proteins, such as Nrf2 and its endogenous inhibitor Kelch-like ECH-associated protein 1 (Keap1), were abnormally expressed in mice subjected to forced swimming, but this abnormal expression was significantly reversed by Sch B treatment. Our results suggest that Sch B may be a potential therapeutic agent against anxiety associated with oxidative stress. The possible mechanism is neuroprotection through enhanced antioxidant activity.

[Effects of understory removal on soil labile organic carbon pool in a Cinnamomum camphora plantation].

Taking a 48-year-old Cinnamomum camphora plantation in the eastern area of our subtropics as test object, this paper studied the labile organic carbon contents and their ratios to the total organic carbon (TOC) in 0-60 cm soil layer under effects of understory removal (UR). As compared with no understory removal (CK), the soil TOC and easily-oxidized carbon (EOC) contents under UR decreased, with a decrement of 4.8% - 34.1% and 27.1% - 36.2%, respectively, and the TOC and EOC contents had a significant difference in 0-10 cm and 0-20 cm layers, respectively. The water-soluble organic carbon (WSOC) (except in 0-10 cm and 10-20 cm layers) and light fraction organic matter (LFOM) under UR increaesd, but the difference was not significant. The ratio of soil WSOC to soil TOC in UR stand was higher than that in CK stand, while the ratio of soil EOC to soil TOC showed an opposite trend. In the two stands, soil WSOC, EOC, and LFOM had significant or extremely significant correlations with soil TOC, and the correlation coefficients of soil EOC and LFOM with soil TOC were higher in UR stand than in CK, but the correlation coefficient between soil WSOC and TOC was in opposite. The soil EOC, LFOM, and TOC in the two stands were significantly or extremely significantly correlated with soil nutrients, but the soil WSOC in UR stand had no significant correlations with soil hydrolyzable N, available P, exchangeable Ca, and exchangeable Mg.

Unconventional superconductivity of NdFeAsO(0.82)F(0.18) indicated by the low temperature dependence of the lower critical field H(c1).

We measured the initial M-H curves for a sample of the newly discovered superconductor NdFeAsO(0.82)Fe(0.18), which had a critical temperature, T(c), of 51 K and was fabricated at the high pressure of 6 GPa. The lower critical field, H(c1), was extracted from the deviation point of the Meissner linearity in the M-H curves, which show linear temperature dependence in the low temperature region down to 5 K. The H(c1)(T) indicates no s-wave superconductivity, but rather an unconventional superconductivity with a nodal gap structure. Furthermore, the linearity of H(c1) at low temperature does not hold at high temperature, but shows other characteristics, indicating that this superconductor might have multi-gap features. Based on the low temperature nodal gap structure, we estimate that the maximum gap magnitude Δ(0) = (1.6 ± 0.2)  k(B)T(c).