Association of main folate metabolic pathway gene polymorphisms with neural tube defects in Han population of Northern China.

PURPOSE: Neural tube defects (NTDs) are one of the most prevalent and the most severe congenital malformations worldwide. Studies have confirmed that folic acid supplementation could effectively reduce NTDs risk, but the genetic mechanism remains unclear. In this study, we explored association of single nucleotide polymorphisms (SNP) within folate metabolic pathway genes with NTDs in Han population of Northern China. METHODS: We performed a case-control study to compare genotype and allele distributions of SNPs in 152 patients with NTDs and 169 controls. A total of 16 SNPs within five genes were genotyped by the Sequenom MassARRAY assay. RESULTS: Our results indicated that three SNPs associated significantly with NTDs (P<0.05). For rs2236225 within MTHFD1, children with allele A or genotype AA had a high NTDs risk (OR=1.500, 95%CI=1.061~2.120; OR=2.862, 95%CI=1.022~8.015, respectively). For rs1801133 within MTHFR, NTDs risk markedly increased in patients with allele T or genotype TT (OR=1.552, 95%CI=1.130~2.131; OR=2.344, 95%CI=1.233~4.457, respectively). For rs1801394 within MTRR, children carrying allele G and genotype GG had a higher NTDs risk (OR=1.533, 95%CI=1.102~2.188; OR=2.355, 95%CI=1.044~5.312, respectively). CONCLUSIONS: Our results suggest that rs2236225 of MTHFD1 gene, rs1801133 of MTHFR gene and rs1801394 of MTRR gene were associated with NTDs in Han population of Northern China.

A unique methylation pattern co-segregates with neural tube defect statuses in Han Chinese pedigrees.

Neural tube defects (NTDs) are a complex trait associated with gene-environment interactions. Folic acid deficiency and planar cell polarity gene mutations account for some NTD cases; however, the etiology of NTDs is still little understood. In this study, in three Han Chinese NTD pedigrees (two with multiple affected children), with no information on folic acid deficiency or supplement, we examined genome-wide methylation profiles of each individual in these families. We further compared methylation status among cases and normal individuals within the pedigrees. A unique methylation pattern co-segregated with affected status: NTD cases had more hypermethylated than hypomethylated CpG islands; genes with different methylations clustered in pathways associated with epithelial-to-mesenchymal transition (ZEB2, SMAD6, and CDH23), folic acid/homocysteine metabolism (MTHFD1L), transcription/nuclear factors (HDAC4, HOXB7, SOX18), cell migration/motility/adhesion, insulin and cell growth, and neuron/axon development. Although the genetics of NTD are likely complex, epigenetic changes may concentrate in certain key pathways.

Clinical observation on the treatment of post-cesarean hypogalactia by auricular points sticking-pressing.

OBJECTIVE: To explore the effect of auricular points sticking-pressing (APSP) in treating post-cesarean hypogalactia (PCH). METHODS: A randomized, controlled, single-blinded clinical trial on 116 patients with PCH was carried out. They were equally assigned to the treatment group and the control group. The treatment group received APSP, with the pellets pressed for 4 times daily, while the control group was only asked to do lactation to meet infant demand. The therapeutic efficacy and the changes in scores of traditional Chinese medicine (TCM) syndrome, volume of milk secretion, supplementary feeding and serum level of prolactin (PRL) in the two groups were estimated and compared after the patients had been treated for 5 days. RESULTS: The cured and markedly effective rate in the treatment group was 89.7%, which was significantly higher than that in the control group (27.6%, P<0.05), 95% CI (0.1543, 0.2527). The improvement of TCM syndrome, elevation of milking volume, decrease of the supplementary feeding and increase of PRL level revealed in the treatment group were all superior to those in the control group, showing statistical significance (P<0.01). CONCLUSION: APSP shows an apparent efficacy in treating PCH and is worthy of application in clinical practice.

[Clinical observation on integrative Chinese and Western medicine in treating nontumorous vulval intraepithelial lesion].

OBJECTIVE: To assess the clinical effect of integrative Chinese and Western medicine in treating nontumorous vulval intraepithelial lesion (NIEL). METHODS: One hundred patients of NIEL, with their diagnosis confirmed by pathologic examination, were equally assigned to two groups randomly, the treatment group and the control group. The treatment group was treated by Chinese recipe consisting of herbs for nourishing Gan-Shen, it was decocted for 3 times, the foregoing two decoctions for oral intake, and the latter one (500 mL) for hip bathing 5-10 min every night before sleep. Besides, the self-formulated preparation Jingan oil (composed of aureomycin and glycerine, etc. ), was locally applied twice every day. The control group was treated only by local applying of Jingan oil and a 5-10 min hip bathing with warm water every night. The course for both groups was 2 months. Efficacy of the treatment was assessed at the end of the therapeutic course and after a 2-month follow-up, depending on the changes of local lesion degree, vulval symptoms as pain and itching, estrogen and progestin receptors in the lesion, and the scores of symptoms. RESULTS: The total clinical effective rate was 94% (47/50) in the treatment group and 66% (33/50) in the control group. The severity of local lesion degree, symptoms of pain and itching and the scores of symptoms were significantly improved in both groups, as compared with those before treatment (all P <0.01). However, comparison between groups showed that the improvement was better in the treatment group. The positive rates of estrogen and progestin receptors in the local lesions of the two groups showed insignificantly statistical difference. CONCLUSION: The integrative medical treatment can effectively alleviate the NIEL and improve the relevant clinical symptoms.