A novel pathogenic mitochondrial DNA variant m.4344T>C in tRNAGln causes developmental delay.

Mitochondrial diseases are a group of genetic diseases caused by mutations in mitochondrial DNA and nuclear DNA. However, the genetic spectrum of this disease is not yet complete. In this study, we identified a novel variant m.4344T>C in mitochondrial tRNAGln from a patient with developmental delay. The mutant loads of m.4344T>C were 95% and 89% in the patient's blood and oral epithelial cells, respectively. Multialignment analysis showed high evolutionary conservation of this nucleotide. TrRosettaRNA predicted that m.4344T>C variant would introduce an additional hydrogen bond and alter the conformation of the T-loop. The transmitochondrial cybrid-based study demonstrated that m.4344T>C variant impaired the steady-state level of mitochondrial tRNAGln and decreased the contents of mitochondrial OXPHOS complexes I, III, and IV, resulting in defective mitochondrial respiration, elevated mitochondrial ROS production, reduced mitochondrial membrane potential and decreased mitochondrial ATP levels. Altogether, this is the first report in patient carrying the m.4344T>C variant. Our data uncover the pathogenesis of the m.4344T>C variant and expand the genetic mutation spectrum of mitochondrial diseases, thus contributing to the clinical diagnosis of mitochondrial tRNAGln gene variants-associated mitochondrial diseases.

Virtual sample generation empowers machine learning-based effluent prediction in constructed wetlands.

The design of constructed wetlands (CWs) is critical to ensure effective wastewater treatment. However, limited availability of reliable data can hamper the accuracy of CW effluent predictions, thus increasing design costs and time. In this study, a novel effluent prediction framework for CWs is proposed, utilizing data dimensionality reduction and virtual sample generation. By using four the machine learning algorithms (Cubist, random forest, support vector regression, and extreme learning machine), important features of CW design are identified and used to build prediction models. The extreme learning machine algorithm achieved the highest determination coefficient and lowest error, identifying it as the most suitable algorithm for effluent prediction. A multi-distribution mega-trend-diffusion algorithm with particle swarm optimization was employed to generate virtual samples. These virtual samples were then combined with real samples to retrain the prediction model and verify the optimization effect. Comparative analysis demonstrated that the integration of virtual samples significantly improved the prediction accuracy for ammonium and chemical oxygen demand. The root mean square error decreased by averages of 60.5% and 42.1%, respectively, and the mean absolute percentage error by averages of 21.5% and 23.8%, respectively. Finally, a CW design process is proposed based on prediction models and virtual samples. This integrated forward prediction and reverse design tool can efficiently support CW design when sample sizes are limited, ultimately leading to more accurate and cost-effective design solutions.

Achieving Practical Venue Recycle of Waste Oil-Based Drilling Fluids with Vacuum Distillation Technology.

Drilling fluids are essential operating additives for extracting oil and shale gas. Thus, their pollution control and recycling utilization are significant to petrochemical development. Vacuum distillation technology was used in this research to handle waste oil-based drilling fluids and achieve reutilization. Briefly, recycled oil and recovered solids can be obtained from waste oil-based drilling fluids whose density is 1.24-1.37 g/cm3 by vacuum distillation under the condition of an external heat transfer oil temperature of 270 ± 5 °C and a reaction pressure below 5 × 103 Pa. Meanwhile, recycled oil has excellent apparent viscosity (AV, 21 mPa·s) and plastic viscosity (PV, 14 mPa·s), which could be used as a substitute for 3# white oil. Furthermore, PF-ECOSEAL prepared by recycled solids exhibited better rheological properties (27.5 mPa·s AV, 18.5 mPa·s PV, and 9 Pa yield point) and plugging performance (32 mL V0, 1.90 mL/min1/2Vsf) than drilling fluids prepared with the conventional plugging agent PF-LPF. Our work confirmed that vacuum distillation is a valid technology in innocuity treatment and resource utilization of drilling fluids and has great value in industrial applications.

Towards the carbon neutrality of sludge treatment and disposal in China: A nationwide analysis based on life cycle assessment and scenario discovery.

Motivated by the carbon neutrality target, strategic planning for a low-carbon transition of sludge treatment and disposal in China is challenging due to the unpredictability of technical, regional, socioeconomic, and political factors affecting greenhouse gas (GHG) emissions. This study combines the use of a Life Cycle Assessment and the Patient Rule Induction Method, accounting for possibilities that could achieve net-zero carbon emissions by exploring multiple plausible future profiles of sludge treatment and disposal. Results show that reducing sludge landfill and increasing anaerobic digestion are effective methods to facilitate GHG reduction. Achieving carbon neutrality is closely linked to developing a cleaner electricity mix. Based on a cascaded scenario analysis considering regional differences for 31 Chinese provinces, results demonstrated a maximum cumulative reduction potential of 371 Mt CO2 equivalents from 2020 to 2050, equal to 59.84% of the business-as-usual scenario. Together with GHG reductions, terrestrial acidification and ecotoxicity as well as freshwater ecotoxicity are synergistically reduced. However, the shifting environmental burden results in freshwater eutrophication, human toxicity, marine ecotoxicity, marine eutrophication, and photochemical oxidant formation. This study presents a novel method for systematically identifying possible future development paths toward carbon neutrality. The findings may support policy designs for achieving target carbon reduction effects for sludge disposal.

Silicon-mediated regulation of cadmium transport and activation of antioxidant defense system enhances Pennisetum glaucum resistance to cadmium stress.

Pennisetum glaucum is an important forage grass for livestock. However, the large accumulation of cadmium (Cd) in plant tissues increases the risk of heavy metals entering the food chain in Cd-contaminated soils. Silicon (Si) can inhibit cadmium (Cd) uptake and enhance tolerance of plant to Cd toxicity, but whether and how Si alleviates Cd toxicity in grass and the underlying mechanisms are unclear. The present study explored the differential mechanisms of silicon-induced Cd transport in apoplast and symplast, Cd distribution in root tissue and antioxidant defense system in P. glaucum under Cd stress through hydroponic and pot experiments. The present results showed that exogenous Si supply significantly reduced Cd concentrations in apoplast and symplast; Si treatment increased monosilicic acid concentration in apoplast and symplast of the roots and shoots under Cd stress. Elemental analysis of root microdomains showed that Si treatment increased the distribution of Cd and Si in the endodermis by 42.6% and 14.0%, respectively. Si alleviated the adverse influences of Cd on plant growth, which were manifested in root morphological traits and root activity. In addition, Si addition significantly increased the activities of catalase and superoxide dismutase by 37.0% and 72.7%, and improved the efficiency of the ascorbate-glutathione cycle in Cd-stress shoots. Furthermore, Si significantly reduced the contents of hydrogen peroxide and superoxide anion in Cd-stressed shoots by 16.6% and 48.7%, respectively. These findings demonstrate that Si enhances the resistance of P. glaucum to Cd stress through regulating Cd transport pathways and activating antioxidant defense systems.

Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency.

Leigh syndrome (LS)/Leigh-like syndrome (LLS) is one of the most common mitochondrial disease subtypes, caused by mutations in either the nuclear or mitochondrial genomes. Here, we identified a novel intronic mutation (c.82-2 A > G) and a novel exonic insertion mutation (c.290dupT) in TMEM126B from a Chinese patient with clinical manifestations of LLS. In silico predictions, minigene splicing assays and patients' RNA analyses determined that the c.82-2 A > G mutation resulted in complete exon 2 skipping, and the c.290dupT mutation provoked partial and complete exon 3 skipping, leading to translational frameshifts and premature termination. Functional analysis revealed the impaired mitochondrial function in patient-derived lymphocytes due to severe complex I content and assembly defect. Altogether, this is the first report of LLS in a patient carrying mutations in TMEM126B. Our data uncovers the functional effect and the molecular mechanism of the pathogenic variants c.82-2 A > G and c.290dupT, which expands the gene mutation spectrum of LLS and clinical spectrum caused by TMEM126B mutations, and thus help to clinical diagnosis of TMEM126B mutation-related mitochondrial diseases.

Subjective strain of care experienced by pulmonary and critical care medical nurses when caring for patients with delirium: a cross-sectional study.

BACKGROUND: Delirium, a disorder of consciousness, often occurs for a period of time during hospitalisation. It is characterised by a disturbance of attention or awareness. Hyperactive delirium may lead to accidental removal of medical equipment, while hypoactive delirium may inhibit patients from participating in nursing interventions, medical treatment, and physical therapy. However, there are limited relevant studies of the strain of care of nurses in China when caring for patients with delirium. This study, thus, aimed to investigate the subjective level of the strain of care experienced by pulmonary and critical care nurses when caring for patients with delirium. METHODS: This was a descriptive, cross-sectional study. A survey was conducted with 100 nurses in the Chinese pulmonary and critical care medical (PCCM) department in 2018. The Strain of Care for Delirium Index (SCDI) was used to measure nurses' strain of care. Participants were instructed to rate the degree of perceived difficulty in managing patients who displayed the behaviours listed in the SCDI, on a scale from 1 (quite easy) to 4 (very difficult). The mean ± standard deviation (SD) scores of the ranked difficulty scores were calculated. RESULTS: In our sample, 47 % of the nurses had received delirium-related training previously. The three wards with the highest strain of care scores when caring for patients with delirium were the chronic obstructive pulmonary disease ward (3.29 ± 0.72), interstitial lung disease ward (3.11 ± 1.31), and respiratory intensive care unit (3.02 ± 0.78). The three types of patient behaviours associated with the highest degree of nursing strain of care were being uncooperative and difficult to manage (3.37 ± 0.84), pulling out tubes and tearing out dressings (3.33 ± 0.98), and irritability (3.22 ± 0.95). CONCLUSIONS: This study is the first to focus on nurses' subjective strain of care when caring for patients with delirium in PCCM departments in China. The findings suggest the need to pay more attention to the working status of Chinese nurses. Further trials with large samples assessing relevant outcomes of patients with delirium are warranted.

Silicon Amendment Reduces Soil Cd Availability and Cd Uptake of Two Pennisetum Species.

Silicon (Si) plays important roles in alleviating heavy metal stress, but the migrating effects and mechanisms, especially for Pennisetum, are not well studied. In this study, Pennisetum glaucum and Pennisetum glaucum × P. purpureum were used to explore the impacts of Si application on alleviating cadmium (Cd) toxicity and its possible mechanism. Treatments consist of four levels of Cd (0, 10, 50, and 100 mg·kg-1) with or without 2.0 mM Si amendments. Under Cd stress, Si application significantly increased plant biomass and Si content, reduced Cd content, and decreased the enrichment factor in shoots and roots. Si treatment also increased soil pH and soil residual Cd, while reducing available/oxidizable/reducible Cd content in soil at 50 and 100 mg·kg-1 Cd levels, thereby leading to a reduction of the soil's available Cd. These findings indicate that Si application is effective in alleviating Cd phytotoxicity of Pennisetum, mainly through reducing plant Cd uptake and increasing soil pH and Cd immobilization, thereby reducing Cd bioavailability.