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.     

COVID-19 and the emerging research trends in environmental studies: a bibliometric evaluation

Environmental Science and Pollution Research - The ongoing pandemic of the coronavirus disease 2019 (COVID-19) is a global health emergency. Thousands of articles have been published to tackle this...     

Modeling of mercury sorption by activated carbon in a confined,a semi-fluidized,and a fluidized bed

A process model was developed to simulate elemental mercury sorption by activated carbon in three distinct beds, namely a confined, a semi-fluidized, and a fluidized bed. The model involved the coupling of a kinetic model based on the mechanisms of surface equilibrium and external mass transfer, and a material balance model based on the tank-in-series approach. For surface equilibrium, three different equilibrium laws were used in the model, namely the Henry's Law, the Langmuir isotherm and the Freundlich isotherm. Literature mercury sorption data were used to determine the best-fit values of parameters for these equilibrium expressions. The parameter-fitted model was then used to simulate mercury sorption processes in the three distinct beds. The simulation parameters were mercury concentration, gas flow rate, adsorption temperature and the degree of semi-fluidization. The simulation results have indicated that the model is capable of describing the literature available mercury sorption data. All the three surface equilibrium laws appear to simulate the adsorption profiles equally well mainly because the sorption process occurs in an extremely low concentration range. The simulation results for the three distinct beds have suggested that the confined bed has the best mercury control performance; however, it generates the highest pressure-drop across the bed. A fluidized bed creates the least pressure drop; however, its sorption performance is poor. A semi-fluidized bed offers acceptable performance with affordable pressure-drops and can be a practical candidate for the process.     

Combined steam-dry reforming of toluene in syngas over CaNiRu/Al2O3 catalysts

Cracking, steam reforming, dry reforming, and combined steam and dry reforming of toluene in model syngas were performed using catalysts to simulate tar removal produced during biomass gasification. The catalysts were prepared by adding Ru, Ca, and Mn to Ni-based catalysts, and their properties were measured using BET, pulse CO chemisorption, XRD and TG. In steam and dry reforming of toluene, a high toluene conversion was observed with increasing Ca content in the catalyst and catalysts containing Ca showed a higher activity than those containing Mn. In combined steam-dry reforming with syngas, 1%CaNiRu/Al₂O₃ indicated a conversion of 93.9% at 800°C.     

Enhanced photocatalytic activity of fish scale loaded TiO2 composites under solar light irradiation

Fish scale (FS) loaded TiO₂ composites were investigated as photocatalysts in degradation of Methyl Orange under solar light irradiation. Composites were prepared through sol-gel method by varying mass ratio of TiO₂/FS at 90:10, 70:30 and 50:50, respectively. The catalysts prepared in this study were characterized by using XRD, SEM, FT-IR and nitrogen sorption. The effects of solar irradiation, mass ratio of TiO₂/FS composites, irradiation time and catalyst loadings were studied. Synergistic effect was found in TiO₂/FS of 90:10 composite which performed higher photocatalytic degradation than synthesized TiO₂ under solar light irradiation. However, further increasing fish scale content in the composites reduced the photocatalytic activity drastically. Under solar light irradiation, all the catalysts in this study exhibited photocatalytic activity, except TiO₂/FS of 50:50 composite that only acted as a weak biosorbent without performing any photocatalytic property. Photocatalytic degradation increased with increasing catalyst loading and irradiation time but decreased with increased of initial dye concentration.     

Weekly periodicities of meteorological variables and their possible association with aerosols in Korea

The weekly periodicities in meteorological variables and its association with aerosols in Korea are investigated using long-term surface measurements of meteorology (1975–2005) and aerosols (1999–2005). Through an analysis of the annual (and/or seasonal) values averaged over 10 stations, we identified distinct weekly periodicities in the daily minimum temperature (T_min), diurnal temperature range (DTR), cloud fraction, and solar insolation, although they have different characteristics from each other. The weekly association among variables is discussed in this study. Positive anomalies of the cloud fraction and T_min and negative anomalies of solar insolation and DTR are seen for the second half of the week and the reverse for the first half of the week, i.e., more cloudiness and less insolation for Wednesday?Thursday and less cloudiness and more insolation for Monday?Tuesday. Furthermore, seasonal dependence of weekly anomalies shows that the weekly periodicities are enhanced especially in autumn, more than 2–3 times as great as those of the annual mean. The weekly cycles in such variables are most likely driven by changes in cloud fraction, possibly through aerosol–cloud interactions induced by aerosol variations between working weekdays and Sunday, which are clearly identified in PM10 weekly cycles. This study also suggests that the weekly periodicities in meteorological variables are possibly associated with long-range transport of weekly periodicities, as well as aerosol–cloud-precipitation interactions over the region.     

Hyperspectral reflectance response of freshwater macrophytes to salinity in a brackish subtropical marsh

Coastal freshwater wetlands are threatened by increased salinity due to relative sea level rise and reduced freshwater inputs. Remote radiometric measurement of freshwater marsh canopies to detect small shifts in water column salinity would be useful for assessing salinity encroachment. We measured leaf hyperspectral (300-1100 nm) reflectance of freshwater macrophytes (cattail, Typha latifolia and sea oxeye, Borrichia frutescens) in a field study in a subtropical brackish (2.5-4.5 parts per thousand salinity, per thousand) marsh to determine salinity effects on visible and near-infrared spectral band reflectance and to identify reflectance indices sensitive to small (1 per thousand) changes in wetland salinity. For sea oxeye, floating-position water band index [fWBI = R(900)/minimum(R(930) - R(980)), where R(lambda) = reflectance at band lambda], normalized difference vegetation index [NDVI = (R(774) - R(681))/(R(774) + R(681))], and a proposed wetland salinity reflectance ratio (WSRR = R(990)/R(933)) were sensitive to salinity with R2 of 40, 35, and 65%, respectively (p < 0.01). For cattail, NDVI and photochemical reflectance index [PRI = (R(531) - R(570))/(R(570) + R(531))] were sensitive to salinity with R2 of 29 and 33%, respectively (p 相似文献   

Monitoring of reduced sulfur compounds in the atmosphere of Gosan, Jeju Island during the Spring of 2001

The atmospheric concentrations of dimethylsulfide (DMS) and carbon disulfide (CS2) were measured concurrently with relevant environmental parameters at Gosan, Jeju Island, Korea during 5-26 April 2001. The mean concentrations for these two compounds were 18.7+/-17.9 and 6.4+/-9.9 pptv, respectively. Results of our analysis indicated that relative temporal variations between DMS and CS2 can be best described by dividing the whole data set into three different periods which reflect the variable transport patterns of air masses into the study area. (Periods I, II, and III denote: 5-10, 10-18, and 19-26 April.) The environmental conditions during those three periods varied greatly. The effects of continental and/or oceanic processes were evident for certain periods, yielding diverse relationships between DMS and CS2 in both absolute and relative terms. Most observed variations were best explained in terms of an interplay between source/sink processes and air mass transport patterns. The sea-to-air flux of DMS, when estimated using our measurement data during this study period, was approximately 4 micromole m(-2)d(-1).     

Hydrogen sulfide gas treatment by a chemical-biological process: chemical absorption and biological oxidation steps

In order to remove high concentrations of hydrogen sulfide (H2S) gas from anaerobic wastewater treatments in livestock farming, a novel process was evaluated for H2S gas abatement involving the combination of chemical absorption and biological oxidation processes. In this study, the extensive experiments evaluating the removal efficiency, capacity, and removal characteristics of H2S gas by the chemical absorption reactor were conducted in a continuous operation. In addition, the effects of initial Fe2+ concentrations, pH, and glucose concentrations on Fe2+ oxidation by Thiobacillus ferrooxidans CP9 were also examined. The results showed that the chemical process exhibited high removal efficiencies with H2S concentrations up to 300 ppm, and nearly no acclimation time was required. The limitation of mass-transfer was verified as the rate-determining step in the chemical reaction through model validation. The Fe2+ production rate was clearly affected by the inlet gas concentration as well as flow rate and a prediction equation of ferrous production was established. The optimal operating conditions for the biological oxidation process were below pH 2.3 and 35 degrees C in which more than 90% Fe3+ formation ratio was achieved. Interestingly, the optimal glucose concentration in the medium was 0.1%, which favored Fe2+ oxidation and the growth of T. ferrooxidans CP9.