Objective To examine the relationship of calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNAIC) gene polymorphism with schizophrenia. Method A total of 118 patients with schizophrenia and 122 healthy volunteers were selected in succession. Denaturing high performance liquid chromatography (DHPLC) was used to analyze the genotypes of CACNAIC gene (rs10848683, rs2238032 and rs2299661). Medical record data of patients with schizophre?nia and the clinical manifestation of the patients (sensation and perception disorder, thought disorder, affective disorder and behavior disorder) were collected. The clinical phenotype databases of all patients were established. Result There were statistical differences for genotype and allele distribution of the rs2238032 and rs2299661 between patient group and control group (P<0.05). The TT genotype of rs2238032 (OR=0.394) and the CG genotype of rs2299661 (OR=0.326) associ?ated with the risk of schizophrenia. The genotype distribution of rs2238032 was related to the thought disorder, the emotion disorder and the PANSS score of schizophrenia patients (all P<0.05). The genotype distribution of rs2299661 was related to the perceptual disorders and PANSS score of schizophrenia patients (all P<0.05). Haplotype analysis showed that CTC (OR=1.811), CTG (OR=0.432) and TGC (OR=1.771) were significantly associated with schizophrenia (P<0.05). Conclu?sion The CACNA1C gene polymorphism is associated with schizophrenia and its clinical manifestations.

This study was aimed to observe the influence of Discornin Tablets on activation nuclear transcription factor NF-κBp65 of rheumatoid arthritis (RA) cell model as well as the expression of MMP-9, VEGF and tumor necrosis factor-α (TNF-α). Interleukin-17 (IL-17) and TNF-α were used for stimulating RSC-364 cells. Discornin Tablets at different concentrations were used for intervention. The influence of Discornin Tablets in different concentrations on cell viability was detected by MTT method. Expressions of NF-κBp65 and its inhibitory protein (IκB-α) in each group were detected by western blot method. Changes in VEGF, MMP-9 and TNF-α protein levels in cell broth supernatant were checked by ELISA. The results showed that Discornin Tablets can promote the expression of κB inhibitory pro-tein, reduce the high expression of NF-κB protein level, and inhibit the cellular secretion of VEGF, MMP-9 and TNF-α. It was concluded that Discornin Tablets had negative regulation effect on nuclear transcription factor κB of RSC-364 cells. It can increase the expression of IκB-α, as well as reduce the secretion of inflammation factors and blood vessel newborn factors. It suggested that Discornin Tablets may have the potential regulation effect on RA.

The widespread application of next generation sequencing (NGS) in clinical settings has enabled testing, diagnosis, treatment and prevention of genetic diseases. However, many issues have arisen in the meanwhile. One of the most pressing issues is the lack of standards for reporting genetic test results across different service providers. The First Forum on Standards and Specifications for Clinical Genetic Testing was held to address the issue in Shenzhen, China, on October 28, 2017. Participants, including geneticists, clinicians, and representatives of genetic testing service providers, discussed problems of clinical genetic testing services across in China and shared opinions on principles, challenges, and standards for reporting clinical genetic test results. Here we summarize expert opinions presented at the seminar and report the consensus, which will serve as a basis for the development of standards and guidelines for reporting of clinical genetic testing results, in order to promote the standardization and regulation of genetic testing services in China.