Prenatal diagnosis of Myhre syndrome with a heterozygous pathogenic variant in SMAD4 gene presented with thick nuchal translucency and cardiac abnormalities

Prenatal testing was performed in a 39-year-old Chinese pregnant woman referred for increased nuchal translucency measuring 5.7 mm. Non-invasive prenatal testing and SNP array study on amniotic fluid samples were normal. Whole exome sequencing (WES) was initiated further as the fetus had pericardial effusion of 1.2 mm, thickened myocardium over the right ventricular lateral wall and aberrant right subclavian artery. A detailed fetal echocardiogram also revealed persistent left superior vena cava and dilated coronary sinus at 20 weeks. From whole exome sequencing of the trio, a de novo heterozygous variant NM_005359.5(SMAD4): c.1499T>C (p.Ile500Thr) was detected. This pathogenic variant has been reported in the postnatal case cohort of Myhre syndrome. This condition is characterized by facial dysmorphism, intellectual disability, hearing loss, skeletal abnormalities and potential life threatening respiratory or cardiovascular manifestations. Termination of pregnancy was performed at 23 weeks. Small chins, pre-axial polydactyly, brachydactyly and clinodactyly were noted in the abortus. Ultrasound findings of increased nuchal translucency, thickened myocardium and pericardial effusion prompted further genetic evaluation for the prenatal diagnosis of Myhre syndrome by whole exome sequencing.     

Spatial analysis and land use regression of VOCs and NO2 in Dallas, Texas during two seasons

Passive air sampling for nitrogen dioxide (NO(2)) and select volatile organic compounds (VOCs) was conducted at 24 fire stations and a compliance monitoring site in Dallas, Texas, USA during summer 2006 and winter 2008. This ambient air monitoring network was established to assess intra-urban gradients of air pollutants to evaluate the impact of traffic and urban emissions on air quality. Ambient air monitoring and GIS data from spatially representative fire station sites were collected to assess spatial variability. Pairwise comparisons were conducted on the ambient data from the selected sites based on city section. These weeklong samples yielded NO(2) and benzene levels that were generally higher during the winter than the summer. With respect to the location within the city, the central section of Dallas was generally higher for NO(2) and benzene than north and south. Land use regression (LUR) results revealed spatial gradients in NO(2) and selected VOCs in the central and some northern areas. The process used to select spatially representative sites for air sampling and the results of analyses of coarse- and fine-scale spatial variability of air pollutants on a seasonal basis provide insights to guide future ambient air exposure studies in assessing intra-urban gradients and traffic impacts.     

Health risk assessment of organochlorine pesticides with emphasis on DDTs and HCHs in abandoned agricultural soils

The aim of this study was to evaluate the consequence of changing land use from agriculture land to other use purposes with respect to OCPs non-cancer and cancer risk on human health, based on concentrations of DDTs and HCHs in soils collected from 55 locations representing 12 different land use types. There were no non-cancer risks of DDTs and γ-HCHs on adults and children, and there were very low cancer risks of DDD, o,p'-DDE, DDT, α-HCH, β-HCH, γ-HCH based on their total concentrations in all samples. Nonetheless, there were significant correlations of DDT to its metabolites (DDE and DDD) (r = 0.506 and r = 0.648) and DDE to DDD (r = 0.438) both at p < 0.01. OCP levels should be routinely monitored in different environmental media and food in order to verify whether there is fresh input. Their potential risks on human health should also be assessed.     

Effect of neem limonoids on lactate dehydrogenase (LDH) of the rice leaffolder, Cnaphalocrocis medinalis (Guenée) (Insecta: Lepidoptera: Pyralidae)

Neem is derived from the neem tree Azadirachta indica A. Juss. (Meliaceae), and its primary insecticidal component is the tetranortriterpenoid azadirachtin and other limonoids. The effect of neem limonoids azadirachtin, salannin, deacetylgedunin, gedunin, 17-hydroxyazadiradione and deacetylnimbin on enzyme lactate dehydrogenase (LDH) activity of the rice leaffolder (RLF) Cnaphalocrocis medinalis (Lepidoptera: Pyralidae) larvae was investigated. There was a decrease in enzyme activity relative to the control at all concentrations tested. When fed a diet of rice leaves treated with neem limonoids in bioassays, gut tissue enzyme, LDH levels in rice leaffolder larvae are affected. These results indicate neem limonoids affect LDH activity. These effects are most pronounced in early instar larvae. Azadirachtin was the most potent in of all the limonoids in all experiments indicating strong enzyme inhibition. Clear dose-response relationships were established with respect to LDH activity.     

Simultaneous oxidation of EDTA and reduction of metal ions in mixed Cu(II)/Fe(III)-EDTA system by TiO2 photocatalysis

Both the photooxidation of EDTA and the photoreduction of metal ions in metal-EDTA systems were investigated. EDTA oxidation by TiO(2) photocatalysis occurred sequentially as Cu(II)-EDTA>Cu(II)/Fe(III)-EDTA>Fe(III)-EDTA. For Cu(II)-EDTA, EDTA was completely decomposed after only 60min of irradiation. The rate of EDTA decomposition was directly correlated with the initial Cu(II) concentration in the case of a mixed Cu(II)/Fe(III)-EDTA system. The metal ions in a single metal-EDTA complex were removed following significant decomposition of EDTA. For a mixed Cu(II)/Fe(III)-EDTA system, however, no copper was removed whereas almost all of the iron was removed. The iron and copper species deposited on the TiO(2) surface were identified via EPR and XPS as mixed FeO/Fe(3)O(4) and Cu(0)/Cu(2)O, respectively.     

COMPARATIVE STUDY OF DROUGHT PREDICTION TECHNIQUES FOR RESERVOIR OPERATION1

ABSTRACT: Predicting the likelihood of a drought markedly enhances the efficiency of reservoir operations. This study applies the kriging method and time series analysis to predict inflows to Shihmen Reservoir in northern Taiwan. A subsequent reservoir operation simulation is employed to determine the drought lead time (DLT), the time before the onset of a drought. A more efficient reservoir operational strategy can be established with the aid of DLT and the probability of successful drought prediction (P s). Simulation results of reservoir operation over a period of three decades demonstrate that, at one month DLT, the kriging approach achieves 0.86 of P s for moderate droughts and 0.94 of P s for severe droughts. The kriging approach generally outperformed the time series approach in terms of DLT, P s of drought prediction, and the number of correctly predicted drought events.