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.     

Kolaviron suppresses dysfunctional reproductive axis associated with multi-walled carbon nanotubes exposure in male rats

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.

     

Butyltins in water, biofilm, animals and sediments of the west coast of India

Biofilm, fish, oyster, mussel, clam, surface seawater, suspended particulate matter (SPM), and sediment samples were collected from marine and/or estuarine waters of the west coast of India. These samples were analysed for butyltin derivatives such as dibutyltin (DBT) and tributyltin (TBT). The concentrations DBT plus TBT varied between 2.4 and 8.3, 163 and 363 ng/l, 5 and 2853 ng/g dry wt in the SPM, seawater and sediment samples, respectively, of the Marmugao harbour. The values of DBT plus TBT ranged between 0.60 and 29, 123 and 242 ng/l and 1.4 and 65 ng/g dry wt in SPM, water and sediment samples, respectively, collected from the Mandovi estuary. In the Dona Paula Bay the DBT plus TBT varied from 10 to 89 ng/l in surface seawater, and TBT from 10 to 513 ng/g in biofilm samples. For the coastal sediment samples the concentration of DBT plus TBT ranged between 36 and 133 ng/g dry wt of sediment. For the animal samples the DBT plus TBT ranged between 58 and 825 ng/g dry wt of the tissue. Mussel tissues contained the highest amount of DBT plus TBT (825 ng/g dry wt tissue), whereas highest TBT concentration was recorded in the oyster (732 ng/g dry wt). TBT was generally the most abundant butyltin compound in most of the samples suggesting fresh inputs and/or less degradation of TBT. A wide range of the observed butyltin concentrations suggests the presence of localized areas of contamination. Leaching of tributyltin-containing antifouling paints from the ocean going ships, fishing and recreational boats, barges, and the inputs of TBT from the Goa shipyard and dry dock facility situated in the harbour are the probable sources of the DBT and TBT in the samples of the west coast of India. Higher levels of TBT were observed in biofilm relative to that in the surrounding seawater. When fed on TBT contaminated biofilm of the diatom Navicula subinflata, butyltin concentrations in the clam Paphia malabarica increased over the period of feeding suggesting the importance of biofilm in the transfer of butyltins to higher group of organisms.     

Indigenous Heavy Metal Multiresistant Microbiota of Las Catonas Stream

Las Catonas stream (Buenos Aires Metropolitan Area) receives a complex mixture of pollutants from point and diffuse sources because of the agricultural, industrial and urban land uses of its basin. Widespread detection of heavy metals exceeding aquatic life protection levels has occurred in monitoring reconnaissance studies in surface and pore water. As a result of the screening of Cu, Cd, Zn and Pb resistant/tolerant and culturable microbiota, B101N and 200H strains (Pseudomonas fluorescens or putida) were isolated and selected for further studies. They showed 65% Cd and 35% Zn extraction efficiency from aqueous phase. The potential use of these strains in wastewater treatment is currently investigated in order to contribute to decrease heavy metal pollution, a problem affecting every stream of Buenos Aires Metropolitan Area.     

Role of nano-powder of Azadirachta indica leaves to regulate the physiological responses and metal uptake in Triticum aestivum seedlings

In the present study different doses (0.05, 2.0 and 5.0?mg per 30?ml nutrient medium) of nano-powder (Azadirachta indica leaves) were applied in Cd contaminated (6?ppm) hydroponic system to regulate the metal uptake in Triticum aestivum (wheat) seedlings. Other physiological attributes including oxidative biomarkers, antioxidants and photosynthetic responses were also assessed. The level of Cd was maximally reduced at the dose of 2.0?mg nano powder per 30?ml nutrient medium by 45 and 49% in the shoot and root, respectively. With the maximum reduction in the Cd uptake at this dose, the generation of oxidative stress markers such as H₂O₂ (12%), MDA (26%) and SOR (20%) content showed maximum reduction in treated seedlings. At different doses of nano-powder, the activities of antioxidative enzymes were also showed significant variation. Further, the photosynthetic O₂ evolution rate was improved with the treatment of nano-powder and the best response was noted at 2.0?mg per 30?ml nutrient medium with the maximum value of fresh shoot biomass (38%). The overall results suggest that, this technique could be easily applied for reducing the metal content and increasing the quality of agricultural crops.     

Contrasting behaviour of cadmium and zinc in a soil-plant-arthropod system

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.