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Around the whole world, smoking is considered harmful to human health, such as increasing the risk of cardiovascular disease (CVD, such as coronary heart disease and stroke) and lung cancer. The purpose of this study was to explore whether nicotine, the main component of tobacco, has adverse effects on heart rate variability (HRV) in adolescents, so as to remind adolescents not to smoke and not to take pleasure in abusing nicotine. In this study, 40 male and 40 female young healthy nonsmoking subjects were selected to analyze the changes of HRV after taking 4 mg nicotine orally. We found that nicotine reduced HRV in young healthy male and female subjects, and there was no gender difference in this effect ( P > 0.05 ). In conclusion, smoking is harmful to the cardiac system of young people, especially when nicotine content ≥4 mg dosage.

Do maternal homocysteine (Hcy) concentrations, MTHFR and MTRR genes have effects on the occurrence of fetal aneuploidy?A total of 619 aneuploidy mothers and 192 control mothers were recruited in this study. Differences in distributions of maternal MTHFR 677CT, MTHFR 1298AC and MTRR 66AG genetic polymorphisms and maternal Hcy concentrations between aneuploidy mothers and control mothers were analysed.The maternal MTHFR 677CT polymorphism was found to be a risk factor for the occurrence of many fetal non-mosaic aneuploidies studied here, including trisomies 13, 15, 16, 18, 21, 22, TRA and TS. The maternal MTHFR 1298AC polymorphism was found to be a risk factor specifically associated with the occurrence of fetal trisomy 15 and fetal TS. The maternal MTRR 66AG polymorphism was found to be a risk factor only specifically associated with the occurrence of fetal trisomy 21. The Hcy concentrations of mothers of trisomies 22, 21, 18, 16, 15 and TS fetuses were significantly higher than the Hcy concentrations of control mothers.Overall, data suggested an association between these maternal polymorphisms and the susceptibility of fetal non-mosaic trisomy and Turner syndrome. However, these three maternal polymorphisms had different associations with the susceptibility of different fetal aneuploidies, and the elevated maternal Hcy concentration appeared to be a likely risk factor for fetal Turner syndrome and fetal trisomies.

The consecutive application of herbicide acetochlor has resulted in the widespread drug resistance of weeds and the high risks to environment and human health. To assess environmental behaviors and minimal dosage of acetochlor application in the realistic soil, we systematically investigated the acetochlor adsorption/desorption, mobility, leaching, degradation, weed bioavailability and lethal dosage of acetochlor in three soil types including Nanjing (NJ), Yancheng (YC) and Yingtan (YT). Under the same conditions (60% moisture and darkness), acetochlor had a half-life of disappearance 3 days in NJ, 4.9 days in YC and 25.7 days in YT soils. The HRLC-Q-TOF-MS/MS analyses identified ten metabolites and eight conjugates generated through dealkylation, hydroxylation, thiol conjugation and glycosylation pathways. The acetochlor adsorption to soils ranked in the order of YT > YC > NJ and was committed to the Freundlich model. By examining the effects of soil moisture, microbial activity, illumination/darkness, etc. on acetochlor degradation in soils, we showed that the chemical metabolisms could undergo multiple processes through soil microbial degradation, hydrolysis or photolysis-mediated mechanisms. The longitudinal migration assay revealed that acetochlor leaching ability in the three soils was YT > YC > NJ, which was negatively associated with the order of adsorption behavior. Four kinds of weed were grown in the acetochlor-contaminated NJ soil. The lethal concentrations for the weed plantlets were 0.16–0.3 mg/kg, much lower than the dosage of realistic field application. Overall, our work provided novel insights into the mechanism for acetochlor behaviors in soils, the natural degradation process in the environment, and the lethal concentration to the tested weed plants.

Atrazine residue in soil is one of the serious environmental problems and continues to risk ecosystem and human health. To address the environmental behaviors and dissipation of atrazine and better manage the application of atrazine in reality, we comprehensively investigated the adsorption and desorption, migration ability, and vanishing of atrazine in three distinct soils in China including Jiangxi (JX, pH 5.45, TOC 0.54%), Nanjing (NJ, pH 6.15, TOC 2.13%), and Yancheng (YC, pH 8.60, TOC 0.58%) soils. The atrazine adsorptive capacity to the soils was arranged in the order of NJ > YC > JX. The leaching assay with profiles of the soils showed strong migration, suggesting it had a high bioavailability to weeds and potential for underground water contamination. We further investigated the effects of environmental factors such as soil moisture, microbial activity and photolysis on atrazine degradation and showed that the degradation of atrazine in the soil mainly underwent the abiotic process, most likely through hydrolysis and photolysis-mediated mechanisms, and to less extend through soil microbial catabolism. Using HRLC-Q-TOF-MS/MS and by comparing the measured and theoretical m/z values and fragmentation data, ten metabolites comprising eight degraded products and two conjugates were characterized. Atrazine existing in the soils and sprayed coordinately blocked the growth of three common weeds, which prompted us to use the minimal atrazine in practice to control the waste of the pesticide and its impact on the environment. Overall, our work provided an insight into the mechanisms for the degradation of atrazine residues in the soils and contributed to the environmental risk assessment of the pesticide and management in its application control in the crop rotation and safe production.

Propazine belongs to the triazine herbicide family and widely used in the farmland for crop production. Recent studies have shown that the residue of propazine in environment is accumulative. This inevitably results in accumulation of propazine in crops. Therefore, reduction of propazine toxicity and accumulation in crops is critically important. In this study, the growth of wheat, maize and rapeseed was significantly inhibited by 2, 8 and 0.4 mg kg-1 propazine in soils. The chlorophyll content of the three crops also showed significant decrease, while the electrolyte permeability, a biomarker of cellular damage, increased in the plant cells. However, when plants were sprayed with 5 mg L-1 of salicylic acid (SA), the propazine phytotoxicity of the crops was relieved, with increased chlorophyll content and reduced electrolyte permeability of all crops. Meanwhile, the activities of peroxidase (POD) and glutathione transferase (GST) remained lower. The propazine accumulation in the crops and the residues in the soil were determined by high performance liquid chromatography. The concentration of propazine in plants and soils treated by SA was less than that of the untreated control. Six propazine degraded products (derivatives) in rhizosphere of wheat were characterized using ultraperformance liquid chromatography with a quadrupole-time-of-flight tandem mass spectrometer. Our work indicates that the improved growth of crops was possibly due to the acceleration of propazine degradation by salicylic acid.

The purposes of this study were to investigate the activation and transport of atrazine in the presence of dissolved organic matter (DOM) and the surfactant (Triton X-100) and to understand interactions between DOM, Triton X-100, and atrazine. Uncontaminated soils collected from Nanjing, China, along with DOM extracted from rice straw and Triton X-100 (TX-100), were used in the study. The sorption and desorption experiments were carried out using the standard batch equilibration analysis. Soil column leaching was conducted with soil samples packed into PVC columns. Soil thin-layer chromatography was performed using soil and water mixture spread on a 0.5–0.7-mm-thick layer over 20 × 10-cm glass plates. Atrazine accumulation in maize was determined by planting maize in plastic pots (1 L) containing 1 kg soil mixed with 1.0 mg kg−1 atrazine. Soils were watered with different solutions, with the relative water content of 60%. Using batch experiment and soil thin-layer chromatography, application of DOM and surfactant reduced sorption and increased desorption of atrazine in soil. In column experiment, DOM and surfactant significantly promoted the mobility of atrazine in soil and the total concentration of atrazine in leachate of the soil column. Accumulation of atrazine in both maize roots and shoots increased with the elevated concentration of surfactant, whereas the content of atrazine declined with the increase of the DOM concentration. Dissolved organic matter and TX-100 affected the partitioning and transport of atrazine in soil–water and soil–plant ecosystems.

The discovery of cell-free DNA fetal (cff DNA) in maternal plasma during pregnancy provides a novel perspective for the development of non-invasive prenatal diagnosis (NIPD). Against the background of maternal DNA, the use of the relatively low concentration of cff DNA is limited in NIPD. Therefore, in order to overcome the complication of the background of maternal DNA and expand the scope of cff DNA application in clinical practice, it is necessary to identify novel universal fetal-specific DNA markers. The GeneChip Human Promoter 1.0R Array set was used in the present study to analyze the methylation status of 12 placental tissue and maternal peripheral blood whole-genome DNA samples. In total, 5 fetus differential hypermethylation regions and 6 fetus differential hypomethylation regions were identified. In order to verify the 11 selected methylation regions and detect the differential CpG sites in these regions, a bisulfate direct sequencing strategy was used. In total, 87 fetal differential methylation CpG sites were identified from 123 CpG sites. The detection of fetal differential methylation DNA regions and CpG sites may be instrumental in the development of efficient NIPD and in the expansion of its application in other disorders.

Familial exudative vitreoretinopathy (FEVR) is a hereditary ocular disorder characterized by a failure of peripheral retinal vascularization. In this report, we describe a novel missense mutation of the Norrie disease gene ( NDP ) in a Chinese family with X-linked FEVR. Ophthalmologic evaluation was performed on four male patients and seven unaffected individuals after informed consent was obtained. Venous blood was collected from the 11 members of this family, and genomic DNA was extracted using standard methods. The coding exons 2 and 3 and their corresponding exon–intron junctions of NDP were amplified by polymerase chain reaction and then subjected to direct DNA sequencing. A novel missense mutation (c.310A>C) in exon 3, leading to a lysine-to-glutamine substitution at position 104 (p.Lys104Gln), was identified in all four patients with X-linked FEVR. Three unaffected female individuals (III2, IV3, and IV11) were found to be carriers of the mutation. This mutation was not detected in other unaffected individuals. The mutation c.310A>C (p.Lys104Gln) in exon 3 of NDP is associated with FEVR in the studied family. This result further enriches the mutation spectrum of FEVR.

Aurones belong to a class of heterocyclic flavonoids which contains a benzofuran element associated with a benzylidene linked in position 2. Aurones possess a wide range of pharmacological activities and biological activities, such as antitumor, antifungal, phytoalexin and so on. A novel series of 2-ayl-yl (5-methacrylate) aurone analogues were synthesized in six steps with the overall yield of 11%-13% and characterized by 1H NMR. Among the key intermediates and target compounds, 2-(2-furan-ylmethylene)-5-methacrylate-benzofuran-3(2H)-one (7a) and 2-(2-thienyl-ylmethylene)-5-methacrylate-benzofuran-3(2H)-one (7b) have never been reported before. Primary biological activities evaluation showed that 7a exhibited good inhibitory activities against K562 with an IC50 of 2.18 μM and against HepG2 with an IC50 of 3.95μM.

Hydroxyapatite coatings with biological activity on magnesium alloy can effectively reduce its degradation rate in the physiological environment. Pre-calcification was applied as the pretreatment in this paper. And then, hydroxyapatite coatings were deposited on the surface of the magnesium alloy in non-magnetic field, near the antarctic and the arctic of a constant magnetic field respectively. The morphology, phase composition and crystal structure of the coatings were analyzed using SEM and XRD. The results show that the crystals of the coatings affected by the magnetic fields are preferential orientation significantly.

Background Chromosomal abnormalities that result in genomic imbalances are main causes of congenital and developmental anomalies including intellectual disability and multiple congenital malformations. In this report we describe four patients from three families with imbalanced translocations. Only a small percentage of imbalanced translocation individuals can be born to live, most of them were aborted in embryonic period. It is of great significances to precisely analysis the chromosome variation to study the relationship between genotype and phenotype. Results Four patients showed common clinical manifestations including delayed growth, intellectual disability, language barrier and facial dysmorphisms. In addition to the above features, lower limbs dysplasia and both foot eversion were found in patient 1, brachydactylic hand, cerebellar ataxia and congenital heart defects were also found in patient 4. Conventional karyotype analysis revealed abnormal karyotypes 46, XX, der (6) t (6: 10) (p23; q24), 46, XX, der (20) t (3; 20) (p23; p13) and 46, XX, der (22) t (3; 22) (q27; q13.3) in the four patients, respectively. Array-CGH analyses confirmed 23.6 Mb duplication on 10q25.1-q26.3 and 0.9 Mb deletions on 6p25.3, 19.9 Mb duplication on 3p24.3-p26.3 and 0.25 Mb deletion on 20p13 and 12.5 Mb duplication on 3q27.2-q29 and 1.9 Mb deletions on 22q13.2-q13.33 in the four patients, respectively. Conclusion Parents with balanced translocation are passed the imbalanced chromosome to patient, and the partial monosomy and partial trisomy lead to multiple congenital malformations of four patients. Electronic supplementary material The online version of this article (doi:10.1186/s13039-016-0244-x) contains supplementary material, which is available to authorized users.

Our previous study successfully identified that the novel isatin derivative (E)-methyl 3-(1-(4-methoxybenzyl)-2,3-dioxoindolin-5-yl) acrylate (HKL 2H) acts as an anticancer agent at an inhibitory concentration (IC50) level of 3nM. In this study, the molecular mechanism how HKL 2H induces cytotoxic activity in the human chronic myelogenous leukemia K562 cells was investigated. Flow cytometric analysis showed that the cells were arrested in the G2/M phase and accumulated subsequently in the sub-G1 phase in the presence of HKL 2H. HKL 2H treatment down-regulated the expressions of CDK1 and cyclin B but up-regulated the level of phosphorylated CDK1. Annexin-V staining and the classic DNA ladder studies showed that HKL 2H induced the apoptosis of K562 cells. Our study further showed that HKL 2H treatment caused the dissipation of mitochondrial membrane potential, activated caspase-3 and lowered the Bcl-2/Bax ratio in K562 cells, suggesting that the HKL 2H-causing programmed cell death of K562 cells was caused via the mitochondrial apoptotic pathway. Taken together, our data demonstrated that HKL 2H, a 5-(2-carboxyethenyl) isatin derivative, notably induces G2/M cell cycle arrest and mitochondrial-mediated apoptosis in K562 cells, indicating that this compound could be a promising anticancer candidate for further investigation.

To analyze CYP17A1 gene mutations in a child patient with 17 alpha-hydroxylase/17, 20-lyase deficiency (17OHD), and to review characteristics of CYP17A1 gene mutations in Chinese patients with 17OHD.Clinical data were collected. PCR and DNA sequencing were performed to detect mutations in the patient.The patient has presented classical features of 17OHD including hypertension, hypokalemia, decreased sex hormones and plasma cortisol, and elevated blood adrenocorticotrophic hormone. A compound heterozygous mutation c.987CA and c.985del was detected in the CYP17A1 gene, which resulted in two premature stop codons at positions 328 and 417.A compound mutation, c.987CA and c.985del, has been identified in a patient with 17OHD. Among CYP17A1 gene mutations identified in Chinese patients, missence mutations have been most common, and exons 5 and 8 have been the mutation hotspots.

To investigate the efficiency of multiplex ligation-dependent probe amplification (MLPA) combined with short tandem repeat (STR) linkage analysis for the prenatal diagnosis for Duchenne muscular dystrophy (DMD).Gender of the fetus was first determined by the presence of Y chromosome sex-determining gene (SRY). Subsequently, combined MLPA and STR linkage analysis were applied for the probands, pregnant women and fetuses in 45 affected families.Among the 45 families, 31 SRY-positive fetuses were identified, among whom six were diagnosed with DMD. For 14 SRY-negative fetuses, four were diagnosed as carriers. The remainders were normal.MLPA can detect mutations in the exons of dystrophin gene, whilst STR linkage analysis can determine whether the fetus has inherited the maternal X chromosome bearing the mutant gene. As the result, the method can detect affected fetuses in which no exonic mutations are detected with MLPA. By combining the two methods, the diagnostic rate for DMD can be greatly improved.

To explore the relationship between the polymorphism of methionine synthase reductase (MTRR) A66G and the susceptibility to unexplained repeated spontaneous abortion (URSA).Total of 200 Henan Han couples with URSA (URSA group) and 76 Henan Han healthy couples without URSA (control group) were enrolled in this study. Their MTRR A66G genotypes were determined by PCR restriction fragment length polymorphism (PCR-RFLP).(1) The allele frequencies of MTRR A66G: the frequencies of allele A and allele G in URSA group were 76.5% (153/200) in husband and 72.8% (146/200) in wife, 23.5% (47/200) in husband and 27.2% (54/200) in wife, respectively. The frequencies of allele A and allele G in control group were 78.9% (60/76) in husband and 78.3% (59/76) in wife, 21.1% (16/76) in husband and 21.7% (16/76) in wife, respectively. The frequencies of allele A and allele G were not significantly different between female and male subjects within the same experimental group (P0.05), and also there were not significantly different between the same gender subjects at URAS and control groups (P0.05). (2) The genotype frequencies of MTRR A66G: the frequencies of genotype AA, AG and GG in URSA group were 57.0% (114/200) in husband and 52.0% (104/200) in wife, 39.0% (78/200) in husband and 41.5% (83/200) in wife, 4.0% (8/200) in husband and 6.5% (13/200) in wife, prepectively. The frequencies of genotype AA, AG and GG in control group were 59.2% (45/76) in husband and 59.2% (50/76) in wife, 39.5% (30/76) in husband and 38.2% (29/76) in wife; 1.3% (1/76) in husband and 2.6% (2/76) in wife, prepectively. The frequencies of genotype AA, AG and GG were not significantly different between female and male subjects within the same group (P0.05), and also there were not significantly different between the same gender subjects at URSA and control groups (P0.05).(3)Combined genotype of couples: the combined genotype frequencies of GG + GG, GG + AG, GG + AA, AG + AG, AG + AA and AA + AA in URSA group were 1.0% (2/200), 2.5% (5/200), 6.0% (12/200), 20.0% (40/200), 38.0% (76/200), and 32.5% (65/200), prepectively; the combined genotype frequencies in control group were 0, 1.3% (1/76), 2.6% (2/76), 17.1% (13/76), 42.1% (32/76), 36.8% (28/76), prepectively. The combined genotype analysis between the two groups were also not significantly different (P0.05).The polymorphism of MTRR A66G gene was not associated with the susceptibility to URSA (P0.05), and so it was not the inherited genetic risk factor of URSA.