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. 相似文献
Increased water use associated with rapid growth in the Las Vegas Valley has inadvertently led to the creation of unique wetland systems in Southern Nevada with an abundance of biological diversity. Constructed and naturally created wetlands in the Las Vegas Valley watershed were studied to characterize and understand their potential role for improving ecosystem services (i.e., water purification). Nutrient and metal removal was assessed at four sites including a natural urban runoff wetland, a constructed urban runoff wetland, a constructed wastewater wetland, and a natural urban runoff/wastewater wetland. Plant nutrient uptake was dependent on ambient nutrient concentrations in water and sediments of specific wetlands, irrespective of the type of plants present. Phosphorus was mostly concentrated in below-ground plant parts whereas nitrogen was concentrated in above-ground parts. As for metalloids, bulrushes were more efficient than cattails at taking up arsenic and selenium. Averaging all the wetland sites and plant species, total nitrogen, phosphorus, arsenic and selenium removal was 924.2, 61.5, 0.30, and 0.38 kg/ha/year, respectively. Our findings suggest that natural and created wetland systems can improve water quality in the Las Vegas Valley watershed for some common pollutants, however, other measures are still needed to improve water quality below regulatory thresholds. 相似文献
Reproductive toxicity associated with excessive exposure to multi-walled carbon nanotubes (MWCNTs), which are commonly used in medicine as valuable drug delivery systems, is well documented. Kolaviron, a bioflavonoid isolated from Garcinia kola seeds, elicits numerous health beneficial effects related to its anti-inflammatory, anti-genotoxic activities, anti-apoptotic, and antioxidant properties. However, information on the role of kolaviron in MWCNTs-induced reproductive toxicity is not available in the literature. Herein, we assessed the protective effects of kolaviron on MWCNTs-induced dysfunctional reproductive axis in rats following exposure to MWCNTs (1 mg/kg) and concurrent treatment with kolaviron (50 or 100 mg/kg body weight) for 15 successive days. Results showed that MWCNTs-induced dysfunctional reproductive axis as evidenced by deficits in pituitary and testicular hormones, marker enzymes of testicular function, and sperm functional characteristics were abrogated in rats co-administered with kolaviron. Moreover, co-administration of kolaviron-abated MWCNTs-induced inhibition of antioxidant enzyme activities increases in oxidative stress and inflammatory indices. This is evidenced by diminished levels of tumor necrosis factor-alpha, nitric oxide, lipid peroxidation, reactive oxygen, and nitrogen species as well as reduced activity of myeloperoxidase in testes, epididymis, and hypothalamus of the rats. Biochemical data on the chemoprotection of MWCNTs-induced reproductive toxicity were corroborated by histological findings. Taken together, kolaviron suppressed dysfunctional reproductive axis associated with MWCNTs exposure via abrogation of oxidative stress and inflammation in male rats.
This study investigates the transfer of Cd and Zn from a soil amended with sewage sludge at rates up to 100 t ha(-1) through a multi-trophic system consisting of barley, the aphid Sitobion avenae and the larvae of the lacewing Chrysoperla carnae. Results show marked differences in the transfer of the two metals. Cadmium was freely accumulated in barley roots, but accumulation in the shoot was restricted to a concentration of around 0.22 mg kg(-1) (dry weight). This limited the transfer of Cd to higher trophic levels and resulted in no significant accumulation of Cd in S. avenae or in C. carnae. Zinc transfer in the system was largely unrestricted, resulting in significant accumulation in roots and shoots, in S. avenae and in C. carnae. Cadmium biomagnification occurred in lacewing pupae, with concentrations up to 3.6 times greater than in aphids. S. avenae biomagnified Zn by a factor of ca. 2.5 at low sludge amendment rates, but biomagnification decreased to a factor of 1.4 at the highest amendment rate. Biomagnification of Zn did not occur in C. carnae, but concentrations were up to 3.5 time higher than in soil. Results are discussed in light of the mechanisms regulating transfer of the two metals in the system. 相似文献
To evaluate fetal brain development using MRI (magnetic resonance imaging) in CDH (congenital diaphragmatic hernia).
Methods
52 isolated left CDH and 104 control fetuses were imaged using MRI. Brain morphometry (Biparietal diameter—BPD, brain fronto-occipital diameter—BFOD, third ventricle, posterior ventricles, transcerebellar diameter—TCD, anteroposterior and craniocaudal cerebellar vermis diameter—AP and CC) and cortical structures (bilateral cingulate fissure—CF, insular fissure—IF, insular depth - ID) were compared with controls using Mann–Whitney test.
Results
Median gestational age at MRI (p = 0.95)and the median biparietal diameter (p = 0.737) were comparable. Among morphometric parameters, only the brain fronto-occipital diameter was significantly smaller in CDH (p = 0.001) and the third ventricle was significantly greater in CDH (<0.0001). Among cortical structures, the cingulate and insular fissures were significantly deeper in CDH fetuses (p < 0.0001) as the insular depth ID was smaller in CDH (p < 0.03).
Conclusions
CDH fetuses have a smaller fronto-occipital diameter, reduced insular depth, deeper cingulate and insular fissure, and greater third ventricle width as compared to controls. These findings suggest that left CDH may have an impact on fetal brain development with an overall reduction in brain volume. 相似文献
Agriculture is the main occupation of the majority of people in India. The majority of the population in India is dependent (directly or indirectly) on agriculture as an occupation. The agriculture sector requires more freshwater and power for better yield in the current scenario. Nevertheless, the ever-increasing rate of energy consumption, limited fossil fuels, and rising pollution have made the expansion of renewable resources essential. Due to the suitable solar potential available in India, the deployment of solar energy has been more as compared to other renewable resources. The current study aims to discuss the various technologies, initiatives and policies of solar energy usage in agriculture. This work delivers an assessment of the advancement of solar energy vis-à-vis agricultural applications through the greenhouse concept and photovoltaic approach in India. Various agricultural applications of solar energy, such as solar water desalination system, solar water pumping system, solar crop dryer system for food safety, etc. are discussed as a means to promote solar-based technology. It also highlights the scenario of solar energy in India with important accomplishments, developmental approaches, and future potential. In-depth studies of various policies and government initiatives including those in research and development are also discussed. The current survey on solar technologies will be an aid to agribusiness frameworks to comprehend the statuses, obstructions, and extent of advancement. Finally, some future recommendations for further developments in this approach are discussed. This work sheds light on varied areas of solar energy-assisted agricultural systems as a potentially sustainable and eco-friendly pathway.
