Identification of novel variations in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis.

BACKGROUND: Congenital insensitivity to pain (CIP) conditions are a group of Mendelian disorders with clinical and genetic heterogeneity. CIP with anhidrosis (CIPA) is a distinct subtype caused by biallelic variants in the NTRK1 gene. METHODS: In this study, six families with CIPA were recruited and submitted to a series of clinical and genetic examinations. Whole-exome sequencing and whole-genome sequencing were applied to perform a comprehensive genetic analysis. Sanger sequencing was used as a validation method. RESULTS: These patients exhibited phenotypic variability. All probands in the six families were positive for biallelic pathogenic variants in NTRK1. Five individual variants, namely NTRK1: (NM_002529.3) c.851-33T>A, c.717+2T>C, c.1806-2A>G, c.1251+1G>A, and c.851-794C>G, including three novel ones, were identified, which were carried by the six patients in a homozygous or compound heterozygous way. The validation results indicated that all the parents of the six probands, except for one father and one mother, were monoallelic carriers of a single variant. CONCLUSIONS: The findings in our study extended the variation spectrum of the NTRK1 gene and highlighted the advantage of the integrated application of multiplatform genetic technologies.

Compact Feeding Network for Array Radiations of Spoof Surface Plasmon Polaritons.

We propose a splitter feeding network for array radiations of spoof surface plasmon polaritons (SPPs), which are guided by ultrathin corrugated metallic strips. Based on the coupled mode theory, SPP fields along a single waveguide in a certain frequency range can be readily coupled into two adjacent branch waveguides with the same propagation constants. We propose to load U-shaped particles anti-symmetrically at the ends of such two branch waveguides, showing a high integration degree of the feeding network. By controlling linear phase modulations produced by the U-shaped particle chain, we demonstrate theoretically and experimentally that the SPP fields based on bound modes can be efficiently radiated to far fields in broadside direction. The proposed method shows that the symmetry of electromagnetic field modes can be exploited to the SPP transmission network, providing potential solutions to compact power dividers and combiners for microwave and optical devices and systems.

Supernatant of bone marrow mesenchymal stromal cells induces peripheral blood mononuclear cells possessing mesenchymal features.

Increasing evidence shows that some cells from peripheral blood fibroblast-like mononuclear cells have the capacity to differentiate into mesenchymal lineages. However, the insufficiency of these cells in the circulation challenges the cell isolation and subsequently limits the clinical application of these cells. In the present study, the peripheral blood mononuclear cells (pbMNCs) were isolated from wound animals and treated with the supernatant of bone marrow mesenchymal stromal cells (bmMSCs). Results showed these pbMNCs were fibroblast-like, had stromal morphology, were negative for CD34 and CD45, but positive for Vimentin and Collagen I, and had the multipotency to differentiate into adipocytes and osteoblasts. We named these induced peripheral blood-derived mesenchymal stromal cells (ipbMSCs). Skin grafts in combination with ipbMSCs and collagen I were applied for wound healing, and results revealed ipbMSC exhibited similar potency and effectiveness in the promotion of wound healing to the bmMSCs. Hereafter, we speculate that the mixture of growth factors and chemokines secreted by bmMSCs may play an important roles in the induction of the proliferation and mesenchymal differentiation of mononuclear cells. Our results are clinically relevant because it provide a new method for the acquisition of MSCs which can be used as a candidate for the wound repair.

[Effects of seasonal snow cover on soil nitrogen transformation in alpine ecosystem: a review].

Seasonal snow cover has pronounced effects on the soil nitrogen concentration and transformation in alpine ecosystem. Snowfall is an important form of nitrogen deposition, which directly affects the content of soil available nitrogen. Different depths and different duration of snow cover caused by snowfall may lead the heterogeneity of abiotic factors (soil temperature and moisture) and biotic factors (soil microbes, alpine plants, and alpine animals), and further, produce complicated effects on the mineralization and immobilization of soil nitrogen. This paper introduced in emphasis the inherent mechanisms of soil nitrogen mineralization and leaching under the effects of frequent freeze-thaw events during the durative melting of snow cover, and summarized the main research results of field in situ experiments about the effects of seasonal snow cover on soil nitrogen in alpine ecosystem based on the possible changes in snow cover in the future. Some suggestions with regard to the effects of seasonal snow cover on soil nitrogen were put forward.