PAH mutation spectrum and correlation with PKU manifestation in north Jiangsu province population.

Phenylketonuria (PKU) is a common autosomal recessive disorder of phenylalanine metabolism and mainly results a deficiency of phenylalanine hydroxylase gene (PAH). The incidence of various PAH mutations have race and ethnicity differences. We report a spectrum of PAH mutations complied from 35 PKU children who are all Chinese Han population from north Jiangsu in this study. All 13 exons and their flanking intron sequences of PAH were determined by Ion Torrent PGM™ sequencing. The relationship of genotype and phenotype was analyzed based on the sum of the arbitrary value (AV) values of the two alleles. We identified 61 mutations, with a frequency of 87.14%, among 70 alleles of 35 patients. The most prevalent mutations were R243Q (26.23%), R241C (9.84%) and V399V (8.20%). Furthermore, the consistency between prediction of the biochemical phenotype and the observed phenotype was 81.25%, with the highest consistency observed in classic PKU (87.50%). A significant correlation was found between pretreatment levels of phenylalanine and AV sum (r = -0.87, P < 0.05). Finally, our study constructs PAH mutation spectrum by next generation sequencing (NGS), and reveals that the PAH genotypes and biochemical phenotypes were significantly correlated. These offers facilitate the provision of appropriate genetic counseling for PKU patients.

[Investigation of the mechanisms of coagulation factor VIIa-induced colon cancer SW620 cell proliferation and migration].

OBJECTIVE: To investigate the mechanisms that coagulation factor VIIa promotes proliferation and migration of a colon cancer cell line (SW620 cells) in vitro. METHODS: The expression of interleukin 8 (IL-8), tissue factor (TF), caspase-7 and p-p38 MAPK in SW620 cells treated with factor VIIa or protease activated receptor 2 agonist (PAR2-AP) was measured by ELISA, Western-blotting and QT-PCR. RESULTS: Factor VIIa and PAR2-AP induced IL-8 expression at both mRNA and protein levels, upregulated TF mRNA expression and TF activity, but down-regulated caspase-7 mRNA and p-p38 MAPK levels in SW620 cells. The effects of factor VIIa were not only blocked by anti-TF but also by anti-PAR2 antibodies. CONCLUSION: Factor VIIa binds to TF on cell surface, forming a complex which activates PAR2, then provoking IL-8 and TF expression, and suppresses caspase-7 expression, thus promotes the tumor cell proliferation and migration. p38 MAPK may negatively regulate this process.

[Application of plasma prostate electrovaporization system in the treatment of rectal cicatricial stenosis].

OBJECTIVE: To evaluate the feasibility, maneuver and efficacy of plasma prostate electrovaporization system in the treatment of rectal cicatricial stenosis. METHODS: According to similar procedure of transurethral resection prostate(TURP), intrarectal cicatriclectomy was performed with plasma prostate electrovaporization system in 7 patients with rectal low cicatricial stenosis after rectal cancer treatment (5 patients with transabdominal low anterior resection,2 patients with 3-dimension precise radiotherapy) to remove obstruction and dilate enteric cavity. RESULTS: Seven patients underwent 12 operations, including one operation in 3 patients, two operations in 3 patients, 3 operations in one patient. Resected rectal cicatricial tissue ranged from 5 to 15 g. Mean operation time was 41 min (25 to 40). Operation successful rate was 100% without complications such as perforation, bleeding and infection. All the patients had smooth defecation. CONCLUSION: Plasma prostate electrovaporization system is an effective treatment for rectal cicatricial stenosis with tiny trauma.

N'-(3,4-Dimethoxy-benzyl-idene)aceto-hydrazide.

The asymmetric unit of the title compound, C(11)H(14)N(2)O(3), contains two independent mol-ecules with close conformations; the C=N-N-C torsion angle is 176.4 (1)° in both mol-ecules. In the crystal, inter-molecular N-H⋯O and C-H⋯O hydrogen bonds link the mol-ecules into chains running along the [01] direction.