Hirschsprung disease is associated with an L286P mutation in the fifth transmembrane domain of the endothelin-B receptor in the N-ethyl-N-nitrosourea-induced mutant line.

Hirschsprung disease (HSCR), or colonic aganglionosis, is a congenital disorder characterized by the absence of intramural ganglia along variable lengths of the colon, resulting in intestinal obstruction. It is the most common cause of congenital intestinal obstruction, with an incidence of 1 in 5,000 live births. N-ethyl-N-nitrosourea (ENU)-induced mutagenesis is a powerful tool for the study of gene function and the generation of human disease models. In the current study, a novel mutant mouse with aganglionic megacolon and coat color spotting was generated by ENU-induced mutagenesis. Histological and acetylcholinesterase (AChE) whole-mount staining analysis showed a lack of ganglion cells in the colon in mutant mice. The mutation was mapped to chromosome 14 between markers rs30928624 and D14Mit205 (Chr 14 positions 103723921 bp and 105054651 bp). The Ednrb (Chr 14 position 103814625-103844173 bp) was identified as a potential candidate gene in this location. Mutation analysis revealed a T>C missense mutation at nucleotide 857 of the cDNA encoding endothelin receptor B (EDNRB) in which a proline was substituted for the highly conserved Lys-286 residue (L286P) in the fifth transmembrane (TM V) domain of this G protein-coupled receptor. The mutant mouse was named Ednrb(m1yzcm) (Ednrb; mutation 1, Yangzhou University Comparative Medicine Center). The results of the present study implicate the structural importance of the TM V domain in Ednrb function, and the Ednrb(m1yzcm) mouse represents a valuable model for the study of HSCR in humans.

Toxic Effects of Ethyl Cinnamate on the Photosynthesis and Physiological Characteristics of Chlorella vulgaris Based on Chlorophyll Fluorescence and Flow Cytometry Analysis.

The toxic effects of ethyl cinnamate on the photosynthetic and physiological characteristics of Chlorella vulgaris were studied based on chlorophyll fluorescence and flow cytometry analysis. Parameters, including biomass, F(v)/F(m) (maximal photochemical efficiency of PSII), Ф(PSII) (actual photochemical efficiency of PSII in the light), FDA, and PI staining fluorescence, were measured. The results showed the following: (1) The inhibition on biomass increased as the exposure concentration increased. 1 mg/L ethyl cinnamate was sufficient to reduce the total biomass of C. vulgaris. The 48-h and 72-h EC50 values were 2.07 mg/L (1.94-2.20) and 1.89 mg/L (1.82-1.97). (2) After 24 h of exposure to 2-4 mg/L ethyl cinnamate, the photosynthesis of C. vulgaris almost ceased, manifesting in Ф(PSII) being close to zero. After 72 h of exposure to 4 mg/L ethyl cinnamate, the Fv /Fm of C. vulgaris dropped to zero. (3) Ethyl cinnamate also affected the cellular physiology of C. vulgaris, but these effects resulted in the inhibition of cell yield rather than cell death. Exposure to ethyl cinnamate resulted in decreased esterase activities in C. vulgaris, increased average cell size, and altered intensities of chlorophyll a fluorescence. Overall, esterase activity was the most sensitive variable.

Organochlorine pesticides in the dust fall around Lake Chaohu, the fifth largest lake in China.

The residual levels of organochlorine pesticides (OCPs) in the dust fall around Lake Chaohu were measured using gas chromatography mass spectrometry from April 2010 to March 2011. The fluxes, components, temporal-spatial variations, and sources of OCPs were also analyzed. Twenty-one types of OCPs were detected in the dust fall samples around Lake Chaohu, with a total concentration of 51.54 ± 36.31 ng/g and a total flux of 10.01 ± 13.69 ng/(m(2) day). Aldrin (35.3 %), endosulfan (39.1 %), dichlorodiphenyltrichloroethanes (DDTs) (49.8 %), and isodrin (37.1 %) were the major OCPs in the spring, summer, autumn, and winter, respectively. Both the residual level and the flux were higher in the spring than in other seasons and higher at the outer lake sampling sites than inner lake sampling site. The potential source of the hexachlorcyclohexanes in the dust fall may be recent lindane usage. The DDTs mainly came from historical dicofol usage, and a significant input of DDT was found during April and June. The presence of endosulfan may be due to the present use of technical endosulfan. The aldrin in the dust might be due to its occasional usage, and isodrin may be a result of long-distance transport from other countries.

Atmospheric partitioning and the air-water exchange of polycyclic aromatic hydrocarbons in a large shallow Chinese lake (Lake Chaohu).

The residual levels of polycyclic aromatic hydrocarbons (PAHs) in the atmosphere and in dissolved phase from Lake Chaohu were measured by (GC-MS). The composition and seasonal variation were investigated. The diffusive air-water exchange flux was estimated by a two-film model, and the uncertainty in the flux calculations and the sensitivity of the parameters were evaluated. The following results were obtained: (1) the average residual levels of all PAHs (PAH16) in the atmosphere from Lake Chaohu were 60.85±46.17 ng m(-3) in the gaseous phase and 14.32±23.82 ng m(-3) in the particulate phase. The dissolved PAH16 level was 173.46±132.89 ng L(-1). (2) The seasonal variation of average PAH16 contents ranged from 43.09±33.20 ng m(-3) (summer) to 137.47±41.69 ng m(-3) (winter) in gaseous phase, from 6.62±2.72 ng m(-3) (summer) to 56.13±22.99 ng m(-3) (winter) in particulate phase, and 142.68±74.68 ng L(-1) (winter) to 360.00±176.60 ng L(-1) (summer) in water samples. Obvious seasonal trends of PAH16 concentrations were found in the atmosphere and water. The values of PAH16 for both the atmosphere and the water were significantly correlated with temperature. (3) The monthly diffusive air-water exchange flux of total PAH16 ranged from -1.77×10(4) ng m(-2) d(-1) to 1.11×10(5) ng m(-2) d(-1), with an average value of 3.45×10(4) ng m(-2) d(-1). (4) The results of a Monte Carlo simulation showed that the monthly average PAH fluxes ranged from -3.4×10(3) ng m(-2) d(-1) to 1.6×10(4) ng m(-2) d(-1) throughout the year, and the uncertainties for individual PAHs were compared. (5) According to the sensitivity analysis, the concentrations of dissolved and gaseous phase PAHs were the two most important factors affecting the results of the flux calculations.

The residual levels and health risks of hexachlorocyclohexanes (HCHs) and dichloro-diphenyl-trichloroethanes (DDTs) in the fish from Lake Baiyangdian, North China.

The tissue and organs (muscle, brain, liver, and gill) of four species of freshwater fish from Lake Baiyangdian were analyzed for hexachlorocyclohexanes (HCHs) and dichloro-diphenyl-trichloroethanes (DDTs). The distribution characteristics were analyzed for HCHs and DDTs in various tissue and organs, which determined the health risks for humans. The research results showed that the wet weight content of all HCHs (∑HCHs) ranged from 0.05 ∼ 14.53 ng g(-1), with a mean of 3.47 ng g(-1). The wet weight content of all DDTs (∑DDTs) ranged from ND to 8.51 ng g(-1), with a mean of 2.41 ng g(-1). For the various species of fish, the residual level of ∑HCHs was relatively higher in chub and grass carp and lowest in snakehead. The residual level of ∑DDTs was the highest in snakehead and did not exhibit a significant variance in the other three species. For the various tissues and organs, the contents of HCHs and DDTs were both highest in the fish liver, second highest in the fish gill, and lowest in the fish brain and muscle. Among the four types of isomers, the residual level of γ-HCH was relatively higher, while the residual level of α-HCH was the lowest. The content of p,p'-DDE was significantly greater to other forms of DDT and its isomer. The residual levels of HCHs and DDTs in fish were both below the national standard. However, the carcinogenic risk from the HCHs in parts of the tissue and organs of four fish species in Lake Baiyangdian exceeded the screen value threshold set by USEPA.

The residues, distribution, and partition of organochlorine pesticides in the water, suspended solids, and sediments from a large Chinese lake (Lake Chaohu) during the high water level period.

The levels of organochlorine pesticides (OCPs) in the water, suspended solids, and sediments from Lake Chaohu during the high water level period were measured by a solid-phase extraction gas chromatograph-electron capture detector. The spatial distributions of the three phases and the water/suspended solids and sediment/water partition coefficients were analyzed. The results showed the following: (1) The mean contents of OCPs in the water, suspended solids, and sediments were 132.4 ± 432.1 ng/L, 188.1 ± 286.7 ng/g dry weight (dw), and 13.7 ± 9.8 ng/g dw, respectively. The dominant OCP components were isodrin (85.1%) for the water, DDTs (64.4%) for the suspended solids, and both isodrin (48.5%) and DDTs (31.8%) for the sediments. (2) ß-HCH was the primary isomer of HCHs in the water and sediments, and the proportions were 61.7 and 41.3%; γ-HCH was the primary isomer in the suspended solids, accounting for 49.3%; p,p'-DDT was the dominant content of DDTs in the water and suspended solids, whereas p,p'-DDD was the main metabolite of DDTs in the sediments. (3) The concentrations of contaminants in the water from the western lake were greater than those from the eastern lake, but the concentrations in the suspended solids from the western lake were less than those from the eastern lake. (4) There was no significant correlation between the water-suspended solids partition coefficient Kd and the n-octanol-water partition coefficient Kow, and between the sediment-water organic-C weighted sorption coefficients Koc and Kow.

Water-gas exchange of organochlorine pesticides at Lake Chaohu, a large Chinese lake.

Organochlorine pesticides (OCPs), a potential threat to ecosystems and human health, are still widely residual in the environment. The residual levels of OCPs in the water and gas phase were monitored in Lake Chaohu, a large Chinese lake, from March 2010 to February 2011. Nineteen types of OCPs were detected in the water with a total concentration of 7.27 ± 3.32 ng/l. Aldrin, DDTs and HCHs were the major OCPs in the water, accounting for 38.3%, 28.9% and 23.6% of the total, respectively. The highest mean concentration (12.32 ng/l) in the water was found in September, while the lowest (1.74 ng/l) was found in November. Twenty types of gaseous OCPs were detected in the atmosphere with a total concentration of 542.0 ± 636.5 pg/m(3). Endosulfan, DDTs and chlordane were the major gaseous OCPs in the atmosphere, accounting for 48.9%, 22.5% and 14.4% of the total, respectively. The mean concentration of gaseous OCPs was significantly higher in summer than in winter. o,p'-DDE was the main metabolite of DDT in both the water and gas phase. Of the HCHs, 52.3% existed as ß-HCH in the water, while α-HCH (37.9%) and γ-HCH (30.9%) were dominant isomers in the gas phase. The average fluxes were -21.11, -3.30, -152.41, -35.50 and -1314.15 ng/(m(2) day) for α-HCH, γ-HCH, HCB, DDT and DDE, respectively. The water-gas exchanges of the five types of OCPs indicate that water was the main potential source of gaseous OCPs in the atmosphere. A sensitivity analysis indicated that the water-gas flux of α-HCH, γ-HCH and DDT is more vulnerable than that of HCB and DDE to the variation of the parameters. The possible source of the HCHs in the water was from the historical usage of lindane; however, that in the air was mainly from the recent usage of lindane. The technical DDT and dicofol might be the source of DDTs in the water and air.

Levels, temporal-spatial variations, and sources of organochlorine pesticides in ambient air of Lake Chaohu, China.

The residual levels of OCPs in the gas phase and particle phase in Lake Chaohu, China, were measured using GC-MS from March 2010 to February 2011. The temporal-spatial variations and sources of OCPs were also analyzed. Twenty types of OCPs were detected in the gas phase with a total concentration of 484.8 ± 550.4 pg/m³. Endosulfan, DDTs and chlordane were the primary OCPs in the gas phase. The mean concentration of OCPs in the gas phase was significantly higher in the summer than in the winter. Seventeen types of OCPs were detected in the particle phase with a total concentration of 18.3 ± 26.1 pg/m³. DDTs were major OCPs in the particle phase. The mean concentration of OCPs in the particle phase decreased at first and then increased during the period. The potential source of the HCHs in ambient air of Lake Chaohu might come from recent lindane usage. DDTs mainly came from historical dicofol usage, and an input of DDT was observed in the spring, which may result from the present use of marine paint that contains technical DDT. Endosulfan and chlordane in the air may be due to the present use of technical endosulfan and chlordane.

Residues, distributions, sources, and ecological risks of OCPs in the water from Lake Chaohu, China.

The levels of 18 organochlorine pesticides (OCPs) in the water from Lake Chaohu were measured by a solid phase extraction-gas chromatography-mass spectrometer detector. The spatial and temporal distribution, possible sources, and potential ecological risks of the OCPs were analyzed. The annual mean concentration for the OCPs in Lake Chaohu was 6.99 ng/L. Aldrin, HCHs, and DDTs accounted for large proportions of the OCPs. The spatial pollution followed the order of Central Lakes > Western Lakes > Eastern Lakes and water area. The sources of the HCHs were mainly from the historical usage of lindane. DDTs were degraded under aerobic conditions, and the main sources were from the use of technical DDTs. The ecological risks of 5 OCPs were assessed by the species sensitivity distribution (SSD) method in the order of heptachlor > γ-HCH > p,p'-DDT > aldrin > endrin. The combining risks of all sampling sites were MS > JC > ZM > TX, and those of different species were crustaceans > fish > insects and spiders. Overall, the ecological risks of OCP contaminants on aquatic animals were very low.

Levels, distribution, and health risks of polycyclic aromatic hydrocarbons in four freshwater edible fish species from the Beijing market.

We first estimated the content of polycyclic aromatic hydrocarbons (PAHs) in the brain, liver, bladder, roe, and muscle of four species of edible freshwater fish from the Beijing market. The distribution characteristics of PAHs in these tissues and organs were analyzed to determine their health risks to humans. The results showed that the residual levels of wet weight and lipid-normalized weight ∑PAHs in various tissues of these fish ranged from 0.51 ng·g(-1) to 28.78 ng·g(-1) and from 93.62 ng·g(-1) to 8203.43 ng·g(-1), respectively. The wet weight contents of ∑PAHs were relatively higher in the brain and lower in the liver and muscle. But the differences were not significant. And the differences of lipid-normalized weight PAHs were significant, which in the bighead carp were found significantly the highest, followed in crucian carp, and the lowest in grass carp and carp. The contents of ∑PAHs were the highest in the liver and the lowest in the brain. In the tissues with a higher lipid content, higher residual levels of PAHs were found. The carcinogenic risks for humans from residual ∑PAHs in the various fish tissues were far below 10(-5).