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Tuberous sclerosis complex (TSC) is characterized by the development of hamartomas in multiple organ systems. This study attempted to screen mutations and to investigate the mutation distribution and related phenotypes including epilepsy of Chinese TSC patients. Methods: We performed the genotypic analysis of TSC1 and TSC2 genes in 77 unrelated Chinese TSC patients using direct Sanger sequencing and Multiplex ligation-dependent probe amplification (MLPA). Results: Mutations were identified in a total of 63 (81.8%) cases, including 18 TSC1 mutations (8 nonsense mutations, 6 frameshift, 1 in-frame shift, 1 missense and 2 splice-site) and 45 TSC2 mutations (13 missense, 3 nonsense, 6 splicing, 6 in-frame shift,12 frameshift mutations and 5 large deletions). Large deletions were presented exclusively in TSC2 gene, accounting for 7.9% of all mutations in this study. Fourteen novel mutations were identified in this study. Conclusions: Epilepsy occurs in approximately 75.3% (58/77) of patients. Hypomelanotic macules occurred significantly more often in patients with TSC2 mutations and cases with TSC1/TSC2 mutations had a significantly higher frequency of cortical nodule than patients with no mutations identified. Overall, our data expands the spectrum of mutations associated with the TSC loci and will be of value to the genetic counseling in patients with the disease.

Quercetin and crocin are the main active constituents of Eucommia and Gardenia species, respectively. This study was conducted to explore the effects of quercetin and crocin on fat reduction and renal fibrosis and the relationship of these compounds with autophagy. First, a model of high-fat diet- and streptozotocin-induced type 2 diabetes was established and then subjected model animals to 8 weeks of metformin, quercetin and crocin gavage. Then, a high glucose-induced rat mesangial cells (RMCs) model was established, and these cells were cocultured with quercetin and crocin. The results showed that quercetin and crocin can decrease fasting blood glucose levels, reduce fat accumulation in the liver, alleviate renal fibrosis, and reduce blood lipid levels. Quercetin and crocin increased autophagy-related protein (LC3, Atg5, Beclin-1 and p-AMPK) levels in the liver and decreased autophagy-related protein (LC3, Atg5, Beclin-1 and p-AMPK) levels in the kidneys. Moreover, quercetin and crocin inhibited the excessive proliferation of RMCs induced by high-glucose (HG) conditions, decreased autophagy-related protein (LC3, Atg5, Beclin-1 and p-AMPK) levels, and decreased TGF-β1 expression. Importantly, cotreatment with quercetin and crocin had a more significant effect than treatment with either compound alone. These results suggest that combined administration of quercetin and crocin can more significantly reduce blood glucose/lipid levels and improve renal fibrosis than administration of either compound alone and that AMPK-dependent autophagy might be involved in this process. Eucommia ulmoides Oliv. and Gardenia could be developed as drugs for Type 2 diabetes treatment.

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Trichloroethylene induced hypersensitivity syndrome is dose-independent and potentially life threatening disease, which has become one of the serious occupational health issues and requires intensive treatment. To discover the genetic risk factors and evaluate the performance of risk prediction model for the disease, we conducted genomewide association study and replication study with total of 174 cases and 1761 trichloroethylene-tolerant controls. Fifty seven SNPs that exceeded the threshold for genome-wide significance (P < 5 × 10−8) were screened to relate with the disease, among which two independent SNPs were identified, that is rs2857281 at MICA (odds ratio, 11.92; Pmeta = 1.33 × 10−37) and rs2523557 between HLA-B and MICA (odds ratio, 7.33; Pmeta = 8.79 × 10−35). The genetic risk score with these two SNPs explains at least 20.9% of the disease variance and up to 32.5-fold variation in inter-individual risk. Combining of two SNPs as predictors for the disease would have accuracy of 80.73%, the area under receiver operator characteristic curves (AUC) scores was 0.82 with sensitivity of 74% and specificity of 85%, which was considered to have excellent discrimination for the disease, and could be considered for translational application for screening employees before exposure.

Single-incision laparoscopic surgery is a new approach considered as an alternative to natural orifice transluminal endoscopic surgery. Here, we describe a novel technique for laparoscopic adjustable gastric banding (LAGB) using a single-incision transumbilical (SITU) approach and an intraoperative method for liver retraction. Three patients (18 to 23 y) with a mean body mass index of 38.1 kg/m2 underwent LAGB with the "pars flaccida" technique through an SITU approach. Retraction of the left liver lobe was achieved with a specially designed "liver suspension tape" attached with sutures to the left upper quadrant abdominal wall and midline. The mean operative time was 62 minutes, with no intraoperative complications. These patients responded well postoperatively and were discharged after 2 days. SITU-LAGB is a safe, technically feasible, and reproducible procedure resulting in a more beneficial cosmetic appearance as the incision wound is hidden in the umbilicus, thus avoiding visible abdominal scars.

In the globalized world, water utilization and carbon emissions are two important indicators for water and energy resources evaluation. This paper investigates the inter-sectoral linkage and external trade of virtual water (water embodied in products) and embodied carbon emissions in China based on input–output tables during 1997–2015. Results indicate that: inside China, agriculture, the electric and water industry are major virtual water suppliers, while heavy industrial sectors including the metal products industry, the petrochemical industry, other nonmetallic mineral products industry, and the mining industry are major embodied carbon emissions suppliers. China is the net exporter of virtual water (137.15 × 109 m3) and embodied carbon emissions (16.05 × 108 t). From the perspective of industrial chain, about 81% of virtual water export come from agriculture, the electric and water industry ultimately, and about 85% of embodied carbon emissions export come from the mining industry, the petrochemical industry, other nonmetallic mineral products industry, the metal products industry, and the electric and water industry ultimately.