Publications by authors named "Liming Yang"

264 Publications

MORC2 gene de novo mutation leads to Charcot-Marie-Tooth disease type 2Z: A pediatric case report and literature review.

Medicine (Baltimore) 2021 Sep;100(37):e27208

Department of Neurology, Hunan Children's Hospital, P.R. China.

Rationale: Mutations of the MORC2 gene have most commonly been associated with autosomal-dominant Charcot-Marie-Tooth disease type 2Z (CMT 2Z), while the impact of MORC2 mutations in CMT 2Z on neuronal biology and their phenotypic consequences in patients remain to be clarified.

Patient Concerns: We reported a 27-month-old child with a developmental lag of more than 1 year. He had progressive fatigue for 4 months, accompanied by dysphagia, choking while eating, and progressive aggravation. A genetic study revealed a de novo variant of MORC2, which has not yet been reported.

Diagnosis: According to the child's clinical manifestations, genetic pattern, and American College of Medical Genetics and Genomics pathogenicity analysis, the patient was diagnosed with CMT 2Z caused by MORC2 gene mutation.

Interventions: Mitochondrial cocktail therapy (arginine, vitamin B1 tablets, vitamin B2 tablets, coenzyme Q10 capsules, L-carnitine oral liquid, idebenone tablets, etc) was given.

Outcomes: Mitochondrial cocktail therapy did not significantly improve the child's condition, head magnetic resonance imaging lesions were not significantly improved at outpatient follow-up more than 1 month later, and the lesions were basically unchanged.

Lessons: The clinical manifestations of the disease were similar to those of Leigh syndrome, and they were not significantly improved by cocktail therapy. This site has not been reported in the literature domestically or abroad, and the pathogenesis of CMT 2Z caused by this site mutation is indeed not related to mitochondrial dysfunction. Our study is helpful for clinicians with regard to the differential diagnosis of Leigh syndrome and CMT 2Z and improvement of clinicians' understanding of CMT 2Z disease.
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http://dx.doi.org/10.1097/MD.0000000000027208DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8448061PMC
September 2021

facilitates macrophage apoptosis through ROS generation and MAPK signal transduction: mice display increases atherosclerotic plaque stability.

Theranostics 2021 9;11(19):9358-9375. Epub 2021 Sep 9.

The Key Laboratory of Myocardial Ischemia, Chinese Ministry of Education, Harbin 150086, China.

: Atherosclerosis plaque rupture (PR) is the pathological basis and chief culprit of most acute cardiovascular events and death. Given the complex and important role of macrophage apoptosis and autophagy in affecting plaque stability, an important unanswered question include is whether, and how, immunity-related GTPase family M protein (IRGM) and its mouse orthologue IRGM1 affect macrophage survival and atherosclerotic plaque stability. To investigate whether serum IRGM of ST-segment elevation myocardial infarction (STEMI) patients is related to plaque morphology, we divided 85 STEMI patients into those with and without plaque rupture (PR and non-PR, respectively) based on OCT image analysis, and quantified the patients' serum IRGM levels. Next, we engineered deficient mice ( ) and chimera mice with deficiency in the bone marrow on an background, which were then fed a high-fat diet for 16 weeks. Pathological staining was used to detect necrotic plaque cores, ratios of neutral lipids and cholesterol crystal, as well as collagen fiber contents in these mice to characterize plaque stability. In addition, immunofluorescence, immunohistochemical staining and western blot were used to detect the apoptosis of macrophages in the plaques. , THP-1 and RAW264.7 cells were stimulated with ox-LDL to mimic the environment, and IRGM/IRGM1 expression were modified by specific siRNA (knockdown) or plasmid (knocked-in). The effect of on autophagy and apoptosis of macrophages induced by ox-LDL was then evaluated. In addition, we introduced inhibitors of the JNK/p38/ERK signaling pathway to verify the specific mechanism by which regulates RAW264.7 cell apoptosis. The serum IRGM levels of PR patients is significantly higher than that of non-PR patients and healthy volunteers, which may be an effective predictor of PR. On a high-fat diet, -deficient mice exhibit reduced necrotic plaque cores, as well as neutral lipid and cholesterol crystal ratios, with increased collagen fiber content. Additionally, macrophage apoptosis is inhibited in the plaques of -deficient mice. , deficiency rapidly inhibits ox-LDL-induced macrophage autophagy while inhibiting ox-LDL-induced macrophage apoptosis in late stages. Additionally, deficiency suppresses reactive oxygen species (ROS) production in macrophages, while removal of ROS effectively inhibits macrophage apoptosis induced by IRGM overexpression. We further show that can affect macrophage apoptosis by regulating JNK/p38/ERK phosphorylation in the MAPK signaling pathway. Serum IRGM may be related to the process of PR in STEMI patients, and deficiency increases plaque stability. In addition, deficiency suppresses macrophage apoptosis by inhibiting ROS generation and MAPK signaling transduction. Cumulatively, these results suggest that targeting may represent a new treatment strategy for the prevention and treatment of acute cardiovascular deaths caused by PR.
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http://dx.doi.org/10.7150/thno.62797DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8490524PMC
September 2021

Influence of Early-Onset Peritonitis on Mortality and Clinical Outcomes in ESRD Patients with Diabetes Mellitus on Peritoneal Dialysis: A Retrospective Multicenter Study.

Blood Purif 2021 Oct 12:1-8. Epub 2021 Oct 12.

Department of Nephrology, The Second Hospital of Jilin University, Changchun, China.

Introduction: The impact of early-onset peritonitis (EOP) on patients with diabetes undergoing peritoneal dialysis (PD) has not been adequately addressed. We therefore sought to investigate the effects of EOP on the therapeutic response to management and long-term prognostic outcomes in patients with diabetes undergoing PD.

Methods: For this retrospective cohort study, we analyzed the data for patients with end-stage renal disease, who were also suffering from diabetes mellitus and had undergone PD between January 1, 2013, and December 31, 2018. EOP was defined as the first episode of peritoneal dialysis-related peritonitis (PDAP) occurring within 12 months of PD initiation. All patients were divided into an EOP group and a later-onset peritonitis (LOP) group. Clinical data, treatment results, and outcomes were compared between groups.

Results: Ultimately, 202 patients were enrolled for the analysis. Compared to the EOP group, the LOP group had more Streptococcus (p = 0.033) and Pseudomonas (p = 0.048). Patients with diabetes in the EOP group were less likely to have PDAP-related death (OR 0.13, CI: 0.02-0.82, p = 0.030). Patients with diabetes in the EOP group were more likely to have multiple episodes of PDAP and had higher rates of technical failure and poorer patient survival than those in the LOP group, as indicated by Kaplan-Meier analysis (p = 0.019, p = 0.004, and p < 0.001). In the multivariate Cox proportional hazards model, EOP was a significant predictor for multiple PDAP (HR 4.20, CI: 1.48-11.96, p = 0.007), technical failure (HR 6.37, CI: 2.21-18.38, p = 0.001), and poorer patient survival (HR 3.09, CI: 1.45-6.58, p = 0.003).

Conclusions: The occurrence of EOP is significantly associated with lower rates of PDAP-related death and poorer clinical outcomes in patients with diabetes undergoing PD.
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http://dx.doi.org/10.1159/000514938DOI Listing
October 2021

Revisiting the Graphitized Nanodiamond-Mediated Activation of Peroxymonosulfate: Singlet Oxygenation versus Electron Transfer.

Environ Sci Technol 2021 Oct 11. Epub 2021 Oct 11.

School of Chemical Engineering, The University of Adelaide, Adelaide, SA 5005, Australia.

Graphitized nanodiamonds (ND) exhibit outstanding capability in activating peroxymonosulfate (PMS) for the removal of aqueous organic micropollutants (OMPs). However, controversial observation and interpretation regarding the effect of graphitization degree on ND's activity and the role of singlet oxygen (O) in OMP degradation need to be clarified. Herein, we investigated graphitized ND-mediated PMS activation. Experiments show that the activity of ND increases first and then decreases with the monotonically increased graphitization degree. Further experimental and theoretical studies unveil that the intensified surface graphitization alters the degradation mechanism from singlet oxygenation to an electron-transfer pathway. Moreover, for the first time, we applied a self-constructed, time-resolved phosphorescence detection system to provide direct evidence for O production in the PMS-based system. This work not only elucidates the graphitization degree-dependent activation mechanism of PMS but also provides a reliable detection system for in situ analysis of O in future studies.
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http://dx.doi.org/10.1021/acs.est.1c02042DOI Listing
October 2021

Compact metalens-based integrated imaging devices for near-infrared microscopy.

Opt Express 2021 Aug;29(17):27041-27047

With current trends to progressively miniaturize optical systems, it is now essential to look for alternative methods to control light at extremely small dimensions. Metalenses are composed of subwavelength nanostructures and have an excellent ability to manipulate the polarization, phase, and amplitude of incident light. Although great progress of metalenses has been made, the compact metalens-integrated devices have not been researched adequately. In the study, we present compact imaging devices for near-infrared microscopy, in which a metalens is exploited. The indicators including resolution, magnification, and image quality are investigated via imaging several specimens of intestinal cells to verify the overall performance of the imaging system. The further compact devices, where the metalens is integrated directly on the CMOS imaging sensor, are also researched to detect biomedical issues. This study provides an approach to constructing compact imaging devices based on metalenses for near-infrared microscopy, micro-telecopy, etc., which can promote the miniaturization tending of futural optical systems.
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http://dx.doi.org/10.1364/OE.431901DOI Listing
August 2021

Analysis of synthesis, accumulation and physicochemical properties of Tartary buckwheat starches affected by nitrogen fertilizer.

Carbohydr Polym 2021 Dec 18;273:118570. Epub 2021 Aug 18.

State Key Laboratory of Crop Stress Biology for Arid Areas, College of Agronomy, Northwest A&F University, Yangling, Shaanxi Province 712100, China. Electronic address:

Nitrogen fertilizer is a crucial factor affecting the growth and grain quality of Tartary buckwheat. This study was to investigate the synthesis, accumulation, and physicochemical properties of Tartary buckwheat starches under four nitrogen levels (0, 90, 180, 270 kg N ha). The results showed that activities of four key enzymes, starch contents all first increased and then decreased with increasing nitrogen levels, and peaked at 180 kg N ha. All the starches showed typical A-type, while higher nitrogen levels significantly increased the relative crystallinity. The viscosities significantly decreased, onset, peak, and conclusion first decreased and then increased, while pasting temperature and gelatinization enthalpy increased with increasing nitrogen levels. Nitrogen fertilizer and year had significant effects on the synthesis, accumulation and physicochemical properties of Tartary buckwheat starch, and the nitrogen level of 180 kg N ha was more suitable for planting in the northern area of the Loess Plateau.
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http://dx.doi.org/10.1016/j.carbpol.2021.118570DOI Listing
December 2021

Core-Shell Fluorescent Polymeric Particles with Tunable White Light Emission Based on Aggregation Microenvironment Manipulation.

Angew Chem Int Ed Engl 2021 Sep 24. Epub 2021 Sep 24.

Shenzhen Institute of Molecular Aggregate Science and Engineering, School of Science and Engineering, The Chinese University of Hong Kong (Shenzhen), Shenzhen, 518172, China.

White-light emitting polymers (WLEPs) based on aggregation microenvironment-sensitive aggregation-induced emission (AIE) and Förster resonance energy transfer (FRET) have aroused great interest in lighting and optoelectronic devices. Herein, we developed a novel strategy to construct WLEP particles via a stepwise self-stabilized precipitation polymerization of two emission-complementary AIEgens under core-shell engineering, where the AIE characteristics and FRET process of core-shell fluorescent polymeric particles (CS-FPPs) could be modulated by altering aggregation microenvironment under swelling and shrinking of polymers, facilitating the tunable white light emission of CS-FPPs. Furthermore, such tuning could be fast realized in the solid state, thus demonstrating the potential in anti-counterfeiting. This work proved the significance of aggregation microenvironment on emission of luminogens, guiding the development of high-efficiency emission-tunable materials.
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http://dx.doi.org/10.1002/anie.202110180DOI Listing
September 2021

DR-MIL: deep represented multiple instance learning distinguishes COVID-19 from community-acquired pneumonia in CT images.

Comput Methods Programs Biomed 2021 Sep 9;211:106406. Epub 2021 Sep 9.

Department of Radiology, The Affiliated Hospital of Guizhou Medical University, Guiyang, China. Electronic address:

Background And Objective: Given that the novel coronavirus disease 2019 (COVID-19) has become a pandemic, a method to accurately distinguish COVID-19 from community-acquired pneumonia (CAP) is urgently needed. However, the spatial uncertainty and morphological diversity of COVID-19 lesions in the lungs, and subtle differences with respect to CAP, make differential diagnosis non-trivial.

Methods: We propose a deep represented multiple instance learning (DR-MIL) method to fulfill this task. A 3D volumetric CT scan of one patient is treated as one bag and ten CT slices are selected as the initial instances. For each instance, deep features are extracted from the pre-trained ResNet-50 with fine-tuning and represented as one deep represented instance score (DRIS). Each bag with a DRIS for each initial instance is then input into a citation k-nearest neighbor search to generate the final prediction. A total of 141 COVID-19 and 100 CAP CT scans were used. The performance of DR-MIL is compared with other potential strategies and state-of-the-art models.

Results: DR-MIL displayed an accuracy of 95% and an area under curve of 0.943, which were superior to those observed for comparable methods. COVID-19 and CAP exhibited significant differences in both the DRIS and the spatial pattern of lesions (p<0.001). As a means of content-based image retrieval, DR-MIL can identify images used as key instances, references, and citers for visual interpretation.

Conclusions: DR-MIL can effectively represent the deep characteristics of COVID-19 lesions in CT images and accurately distinguish COVID-19 from CAP in a weakly supervised manner. The resulting DRIS is a useful supplement to visual interpretation of the spatial pattern of lesions when screening for COVID-19.
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http://dx.doi.org/10.1016/j.cmpb.2021.106406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8426140PMC
September 2021

High exposure effect of the adsorption site significantly enhanced the adsorption capacity and removal rate: A case of adsorption of hexavalent chromium by quaternary ammonium polymers (QAPs).

J Hazard Mater 2021 08 28;416:125829. Epub 2021 Apr 28.

College of Chemistry, Nanchang University, Nanchang 330031, PR China; Key Laboratory of Jiangxi Province for Persistent Pollutants Control and Resources Recycle, Nanchang Hangkong University, Nanchang 330063, PR China. Electronic address:

Enhancing the performance of adsorbents to the utmost extent is an objective but challenging in applying adsorption technology to wastewater treatment. In this work, novel quaternary ammonium polymers (QAPs) with high density adsorption site (i.e., quaternized N, confirmed by FT-IR results) were designed and prepared for rapid selective removal of Cr(VI) from water. The results of EDS analysis indicated the maximum exposure rate of N on the surface of QAPs was as high as 86.1%, which almost doubled comparing to that of Cr(VI) ions imprinted polymers (Cr(VI)-IIP) (46.2%). Interestingly, the maximum adsorption capacity (211.8 mg/g) and initial adsorption rate (h0, 66.6 mg/ (g·min)) of QAPs (i.e., 5:1(TRIM)) for Cr(VI) are about 3.6 times and 4.9 times those of Cr(VI)-IIP (63.0 mg/g and 13.5 mg/(g·min)), respectively. Impressively, flow-through adsorption experiments demonstrated 5:1(TRIM) can completely remove 5 mg/L of Cr(VI) within five seconds. Additionally, 5:1(TRIM) exhibited a remarkable selectivity for Cr(VI) adsorption, and high purity (100%) of chromium can be readily obtained. The proposed idea of high exposure effect of the adsorption site can provide a valuable guidance for designing rapid selective adsorbents to remove and reclaim Cr(VI) from wastewater.
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http://dx.doi.org/10.1016/j.jhazmat.2021.125829DOI Listing
August 2021

Resourceful treatment of harsh high-nitrogen rare earth element tailings (REEs) wastewater by carbonate activated Chlorococcum sp. microalgae.

J Hazard Mater 2021 Aug 21;423(Pt A):127000. Epub 2021 Aug 21.

National-Local Joint Engineering Research Center of Heavy Metals Pollutants Control and Resource Utilization, Nanchang Hangkong University, Nanchang 330063, PR China; Key Laboratory of Jiangxi Province for Persistent Pollutants Control and Resources Recycle, Nanchang Hangkong University, Nanchang 330063, PR China.

The discharge of rare earth element (REE) tailings wastewater results in serious ecological deterioration and health risk, due to high ammonia nitrogen, and strong acidity. The low C/N ratio makes it recalcitrant to biodegradation. Recently it has been shown that microalgal technology has a promising potential for the simultaneous harsh wastewater treatment and resource recovery. However, the low nitrogen removal rate and less biomass of microalgae restricted its development. In this work, Chlorococcum sp. was successfully isolated from the rare earth mine effluent. The microalgae was capable of enhancing nitrogen contaminants removal from REEs wastewater due to the carbonate addition, which simulated the activity increase of carbonic anhydrase (CA). The total inorganic nitrogen (TIN) removal rate reached 4.45 mg/L h, which compared to other microalgal species, the nitrogen removal rate and biomass yield were 7.8- and 4.9-fold higher, respectively. Notably, high lipid contents (mainly triglycerides, 43.85% of dry weight) and a high biomass yield were obtained. Meanwhile, the microalgae had an excellent settleability attributed to higher extracellular polymeric substance (EPS) formation, leading to easier resource harvest. These results were further confirmed in a continuous-flow photobioreactor with a stable operation for more than 30 days, indicating its potential for application.
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http://dx.doi.org/10.1016/j.jhazmat.2021.127000DOI Listing
August 2021

Application of artificial intelligence and machine learning for COVID-19 drug discovery and vaccine design.

Brief Bioinform 2021 Aug 19. Epub 2021 Aug 19.

Department of Computer Science, Pacific Lutheran University, Tacoma 98447, USA.

The global pandemic of coronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2, has led to a dramatic loss of human life worldwide. Despite many efforts, the development of effective drugs and vaccines for this novel virus will take considerable time. Artificial intelligence (AI) and machine learning (ML) offer promising solutions that could accelerate the discovery and optimization of new antivirals. Motivated by this, in this paper, we present an extensive survey on the application of AI and ML for combating COVID-19 based on the rapidly emerging literature. Particularly, we point out the challenges and future directions associated with state-of-the-art solutions to effectively control the COVID-19 pandemic. We hope that this review provides researchers with new insights into the ways AI and ML fight and have fought the COVID-19 outbreak.
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http://dx.doi.org/10.1093/bib/bbab320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8511807PMC
August 2021

Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation.

Neurogenetics 2021 10 9;22(4):323-332. Epub 2021 Aug 9.

Department of Neurology, Hunan Children's Hospital, Ziyuan Road & No. 86, Changsha, 410001, Hunan, China.

Mutations in CSNK2B lead to Poirier-Bienvenu neurodevelopmental syndrome (POBINDS), a rare neurodevelopmental disorder. Only 14 cases of POBINDS have been reported worldwide. The main manifestations are seizures, often tonic-clonic, with or without intellectual disability, growth retardation, and developmental language retardation. We conducted a comprehensive phenotypic mining and trio-whole exome sequencing on six children with POBINDS for gene diagnosis and analyzed the different variants using bioinformatics analysis software and related experiments. This paper reviews previous literature and discusses two common missense variants that lead to structural changes. Among the six patients, four, one, and one had tonic-clonic, myoclonic, and febrile seizures, respectively. Language development disorder, motor development disorder, and developmental delay/intellectual disability (DD/ID) are the main clinical features. All children had de novo mutations in CSNK2B, including three missense variants (c.410G > T/p.(Cys137Phe), c.494A > G/p.(His165Arg), and c.3G > A/p.(Met1Ile)), two splice variants (c.292-2A > T, c.558-3 T > G), and one frameshift variant (c.499delC/p.(Leu167Serfs*60)). Three missense variants were predicted to be harmful by various software programs, and two splicing variants were found to produce new exonic splicing enhancers by the minigene assay. Western blot analysis showed that the frameshift variant resulted in decreased protein expression. According to a literature review, c.3G > A/p.(Met1Ile), c.292-2A > T, c.558-3 T > G, and c.499delC/p.(Leu167Serfs*60) are novel variants of CSNK2B. The decrease or loss of protein function caused by CSNK2B mutations may be a pathogenic factor in this cohort. The severity of the POBINDS phenotype differs, and refractory epilepsy may be accompanied by a more serious DD/ID, language disorder, and motor retardation. At present, there is no specific treatment, and antiepileptic therapy usually requires the combination of two or more anti-epileptic drugs.
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http://dx.doi.org/10.1007/s10048-021-00649-2DOI Listing
October 2021

Capped L-norm metric based robust least squares twin support vector machine for pattern classification.

Neural Netw 2021 Oct 4;142:457-478. Epub 2021 Jul 4.

College of Science, China Agricultural University, Beijing, Haidian, 100083, China. Electronic address:

Least squares twin support vector machine (LSTSVM) is an effective and efficient learning algorithm for pattern classification. However, the distance in LSTSVM is measured by squared L-norm metric that may magnify the influence of outliers. In this paper, a novel robust least squares twin support vector machine framework is proposed for binary classification, termed as CL-LSTSVM, which utilizes capped L-norm distance metric to reduce the influence of noise and outliers. The goal of CL-LSTSVM is to minimize the capped L-norm intra-class distance dispersion, and eliminate the influence of outliers during training process, where the value of the metric is controlled by the capped parameter, which can ensure better robustness. The proposed metric includes and extends the traditional metrics by setting appropriate values of p and capped parameter. This strategy not only retains the advantages of LSTSVM, but also improves the robustness in solving a binary classification problem with outliers. However, the nonconvexity of metric makes it difficult to optimize. We design an effective iterative algorithm to solve the CL-LSTSVM. In each iteration, two systems of linear equations are solved. Simultaneously, we present some insightful analyses on the computational complexity and convergence of algorithm. Moreover, we extend the CL-LSTSVM to nonlinear classifier and semi-supervised classification. Experiments are conducted on artificial datasets, UCI benchmark datasets, and image datasets to evaluate our method. Under different noise settings and different evaluation criteria, the experiment results show that the CL-LSTSVM has better robustness than state-of-the-art approaches in most cases, which demonstrates the feasibility and effectiveness of the proposed method.
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http://dx.doi.org/10.1016/j.neunet.2021.06.028DOI Listing
October 2021

Regulation of NMDA receptor trafficking and gating by activity-dependent CaMKIIα phosphorylation of the GluN2A subunit.

Cell Rep 2021 Jul;36(1):109338

Clem Jones Centre for Ageing Dementia Research, The University of Queensland, Brisbane, QLD 4072, Australia; Queensland Brain Institute, The University of Queensland, Brisbane, QLD 4072, Australia. Electronic address:

NMDA receptor (NMDAR)-dependent Ca influx underpins multiple forms of synaptic plasticity. Most synaptic NMDAR currents in the adult forebrain are mediated by GluN2A-containing receptors, which are rapidly inserted into synapses during long-term potentiation (LTP); however, the underlying molecular mechanisms remain poorly understood. In this study, we show that GluN2A is phosphorylated at Ser-1459 by Ca/calmodulin-dependent kinase IIα (CaMKIIα) in response to glycine stimulation that mimics LTP in primary neurons. Phosphorylation of Ser-1459 promotes GluN2A interaction with the sorting nexin 27 (SNX27)-retromer complex, thereby enhancing the endosomal recycling of NMDARs. Loss of SNX27 or CaMKIIα function blocks the glycine-induced increase in GluN2A-NMDARs on the neuronal membrane. Interestingly, mutations of Ser-1459, including the rare S1459G human epilepsy variant, prolong the decay times of NMDAR-mediated synaptic currents in heterosynapses by increasing the duration of channel opening. These findings not only identify a critical role of Ser-1459 phosphorylation in regulating the function of NMDARs, but they also explain how the S1459G variant dysregulates NMDAR function.
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http://dx.doi.org/10.1016/j.celrep.2021.109338DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8313361PMC
July 2021

Profiling pharmacokinetics of double-negative T cells and cytokines via a single intravenous administration in NSG mice.

Biopharm Drug Dispos 2021 Jul 3;42(7):338-347. Epub 2021 Jul 3.

The Center of Research & Development, Ruichuang Biotechnology Company, Shaoxing City, Zhejiang Province, China.

This study was intended to delineate the profile of double-negative T cells (DNTs) in NOD.Cg-Prkdc Il2rg /SzJ mice and cytokines released from DNTs in vivo and in vitro. Total 4 × 10 cells of RC1012 injection per mice were intravenously infused. IFN-γ, TNF-α, IL-1β, IL-2, IL-4, IL-6, IL-10 were measured in vivo and in vitro. A quantitative polymerase chain reaction (PCR) was employed to determine the gene copies of Notch2-NLA per DNT cell from collected organs. Cytokines were significantly increased in vitro (4 h) and in vivo (3 h). DNT cells were distributed into the lung, liver, heart, and kidney earlier, and redistributed to lymphocyte homing spleen and bone marrow, which seemed to frame a two-compartment pharmacokinetics (PK) model but more data are needed to confirm this, and the clearance of DNT cells fell into first-order kinetics.
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http://dx.doi.org/10.1002/bdd.2295DOI Listing
July 2021

Quantitative perfusion histogram parameters of dynamic contrast-enhanced MRI to identify different pathological types of uterine leiomyoma.

Zhejiang Da Xue Xue Bao Yi Xue Ban 2021 02;50(1):97-105

Department of Radiology,Shaoxing People's Hospital,Shaoxing 312000,Zhejiang Province,China.

:To explore the value of quantitative perfusion histogram parameters of dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) in pathological classification of uterine leiomyoma and its correlation with Ki-67 protein expression. Thirty five patients with uterine leiomyoma confirmed by operation and pathology at Shaoxing People's Hospital from October 2015 to September 2017 were analyzed retrospectively,including 15 cases of ordinary type,8 cases of cellular type and 12 cases of degenerative type. All patients were examined by pelvic DCE-MRI before operation,and the histogram parameters (median,mean,skewness,kurtosis,energy,entropy) of various quantitative perfusion parameters,including volume transport constant (K),rate constant (K),extravascular extracellular space distribute volume per unit tissue volume (V),blood plasma volume per unit volume of tissue (V) were calculated,and the efficacy of different parameters in pathological classification of uterine leiomyoma was evaluated by ROC curve. The expression of Ki-67 protein in uterine leiomyoma was detected by immunohistochemical method,and the correlation between histogram parameters and Ki-67 protein expression was analyzed by Pearson and Spearman correlation analysis. The median and mean values of K,K,V and V in the cellular group were higher than those in the degenerative group and the ordinary group(<0.05 or <0.01),while the skewness of V,the skewness and kurtosis of K in the cellular group were lower than those in the ordinary group (all <0.05). The entropy of K in the cellular group was higher than that in the degenerative group and the ordinary group (all < 0.05). The entropy of V in the cellular group was higher than that in the ordinary group (<0.01). The median,mean,skewness of K,median and mean of K,median and mean of V,median,mean,energy and entropy of V were correlated with Ki-67 expression(all <0.05). The results of ROC curve analysis showed that the median threshold of K was 0.994/min,the sensitivity and specificity for the diagnosis of cellular uterine leiomyoma were 100.0% and 77.8% respectively,and the area under the ROC curve was 0.949. When the mean threshold of K was 1.170/min,the sensitivity and specificity for diagnosing cellular uterine leiomyoma were 100.0% and 77.8% respectively,and the area under the ROC curve was 0.958. The area under the ROC curve of K (entropy),K (median,mean),V (median,mean,entropy) in the diagnosis of cellular uterine leiomyoma were 0.755-0.907. :DCE-MRI quantitative perfusion histogram parameters have high diagnostic value in differentiating pathological types of uterine leiomyoma,especially for cellular uterine leiomyoma.
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http://dx.doi.org/10.3724/zdxbyxb-2021-0036DOI Listing
February 2021

CNKSR2 gene mutation leads to Houge type of X-linked syndromic mental retardation: A case report and review of literature.

Medicine (Baltimore) 2021 Jun;100(23):e26093

Department of Neurology, Hunan Children's Hospital, Ziyuan Road, Changsha, Hunan, P.R.China.

Rationale: Mutations of connector enhancer of kinase suppressor of Ras-2 (CNKSR2) gene were identified as the cause of Houge type of X-linked syndromic mental retardation. The mutations of CNKSR2 gene are rare, we reporta patient carrying a novel nonsense mutation of CNKSR2,c.625C > T(p.Gln209∗) and review the clinical features and mutations of CNKSR2 gene for this rare condition considering previous literature.

Patient Concerns: We report a case of a 7-year and 5-month-old Chinese patient with clinical symptoms of intellectual disability, language defect, epilepsy and hyperactivity. Genetic study revealed a novel nonsense variant of CNKSR2, which has not been reported yet.

Diagnosis: According to clinical manifestations, genetic pattern and ACMG classification of mutation site as Class 1-cause disease, the patient was diagnosed as Houge type of X-linked syndromic mental retardation caused by CNKSR2 gene mutation.

Interventions: The patient was administrated with a gradual titration of valproic acid (VPA).

Outcomes: On administration of valproic acid, he had no further seizures.

Lessons: This is the first time to report a nonsense variant in CNKSR2, c.625C > T(p.Gln209∗), this finding could expand the spectrum of CNKSR2 mutations and might also support the further study of Houge type of X-linked syndromic mental retardation.
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http://dx.doi.org/10.1097/MD.0000000000026093DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8202604PMC
June 2021

A Chinese patient with developmental and epileptic encephalopathies (DEE) carrying a TRPM3 gene mutation: a paediatric case report.

BMC Pediatr 2021 06 1;21(1):256. Epub 2021 Jun 1.

Department of Neurology, Hunan Children's Hospital, No.86 Ziyuan Road, Changsha, 410007, Hunan, People's Republic of China.

Background: Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of chronic encephalopathies characterized by epilepsy with comorbid intellectual disability that are frequently associated with de novo nonsynonymous coding variants in ion channels, cell-surface receptors, and other neuronally expressed genes. Mutations in TRPM3 were identified as the cause of DEE. We report a novel patient with DEE carrying a de novo missense mutation in TRPM3, p.(S1202T); this missense mutation has never been reported.

Case Presentation: A 7-year and 2-month-old Chinese patient who had recurrent polymorphic seizures was clinically diagnosed with DEE. A de novo missense mutation in TRPM3, which has not yet been reported, was identified in this case. The patient had a clinical phenotype consistent with previous reports.

Conclusions: These findings could expand the spectrum of TRPM3 mutations and might also support that de novo substitutions of TRPM3 are a cause of DEE.
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http://dx.doi.org/10.1186/s12887-021-02719-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8167971PMC
June 2021

The Full-Length Transcriptome Sequencing and Identification of Na/H Antiporter Genes in Halophyte Bobrov.

Genes (Basel) 2021 05 28;12(6). Epub 2021 May 28.

College of Biology and the Environment, Nanjing Forestry University, Nanjing 210037, China.

Bobrov is a halophyte that is resistant to salt and alkali and is widely distributed in northwestern China. However, its genome has not been sequenced, thereby limiting studies on this particular species. For species without a reference genome, the full-length transcriptome is a convenient and rapid way to obtain reference gene information. To better study , we used PacBio single-molecule real-time technology to perform full-length transcriptome analysis of this halophyte. In this study, a total of 21.83 Gb of data were obtained, and 198,300 transcripts, 51,875 SSRs (simple sequence repeats), 55,574 CDS (coding sequence), and 74,913 lncRNAs (long non-coding RNA) were identified. In addition, using this full-length transcriptome, we identified the key Na/H antiporter () genes that maintain ion balance in plants and found that these are induced to express under salt stress. The results indicate that the full-length transcriptome of can be used as a database and be utilized in elucidating the salt tolerance mechanism of .
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http://dx.doi.org/10.3390/genes12060836DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8227117PMC
May 2021

Long-read genome assembly and genetic architecture of fruit shape in the bottle gourd.

Plant J 2021 Aug 5;107(3):956-968. Epub 2021 Jul 5.

Institute of Vegetables, Zhejiang Academy of Agricultural Sciences, Hangzhou, Zhejiang, China.

The bottle gourd (Lagenaria siceraria, Cucurbitaceae) is an important horticultural crop exhibiting tremendous diversity in fruit shape. The genetic architecture of fruit shape variation in this species remains unknown. We assembled a long-read-based, high-quality reference genome (ZAAS_Lsic_2.0) with a contig N50 value over 390-fold greater than the existing reference genomes. We then focused on dissection of fruit shape using a one-step geometric morphometrics-based functional mapping approach. We identified 11 quantitative trait loci (QTLs) responsible for fruit shape (fsQTLs), reconstructed their visible effects and revealed syntenic relationships of bottle gourd fsQTLs with 12 fsQTLs previously reported in cucumber, melon or watermelon. Homologs of several well-known and newly identified fruit shape genes, including SUN, OFP, AP2 and auxin transporters, were comapped with bottle gourd QTLs.
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http://dx.doi.org/10.1111/tpj.15358DOI Listing
August 2021

MRI-Based Radiomics Models for Predicting Risk Classification of Gastrointestinal Stromal Tumors.

Front Oncol 2021 10;11:631927. Epub 2021 May 10.

Department of Radiology, Shaoxing People's Hospital, Shaoxing Hospital, Zhejiang University School of Medicine, Shaoxing, China.

Background: We conduct a study in developing and validating four MRI-based radiomics models to preoperatively predict the risk classification of gastrointestinal stromal tumors (GISTs).

Methods: Forty-one patients (low-risk = 17, intermediate-risk = 13, high-risk = 11) underwent MRI before surgery between September 2013 and March 2019 in this retrospective study. The Kruskal-Wallis test with Bonferonni correction and variance threshold was used to select appropriate features, and the Random Forest model (three classification model) was used to select features among the high-risk, intermediate-risk, and low-risk of GISTs. The predictive performance of the models built by the Random Forest was estimated by a 5-fold cross validation (5FCV). Their performance was estimated using the receiver operating characteristic (ROC) curve, summarized as the area under the ROC curve (AUC). Area under the curve (AUC), accuracy, sensitivity, and specificity for risk classification were reported. Linear discriminant analysis (LDA) was used to assess the discriminative ability of these radiomics models.

Results: The high-risk, intermediate-risk, and low-risk of GISTs were well classified by radiomics models, the micro-average of ROC curves was 0.85, 0.81, 0.87 and 0.94 for T1WI, T2WI, ADC and combined three MR sequences. And ROC curves achieved excellent AUCs for T1WI (0.85, 0.75 and 0.82), T2WI (0.69, 0.78 and 0.78), ADC (0.85, 0.77 and 0.80) and combined three MR sequences (0.96, 0.92, 0.81) for the diagnosis of high-risk, intermediate-risk, and low-risk of GISTs, respectively. In addition, LDA demonstrated the different risk of GISTs were correctly classified by radiomics analysis (61.0% for T1WI, 70.7% for T2WI, 83.3% for ADC, and 78.9% for the combined three MR sequences).

Conclusions: Radiomics models based on a single sequence and combined three MR sequences can be a noninvasive method to evaluate the risk classification of GISTs, which may help the treatment of GISTs patients in the future.
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http://dx.doi.org/10.3389/fonc.2021.631927DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8141866PMC
May 2021

Acid-Enabled Palladium-Catalyzed β-C(sp)-H Functionalization of Weinreb Amides.

J Org Chem 2021 06 13;86(11):7872-7880. Epub 2021 May 13.

Key Laboratory of Functional Inorganic Material Chemistry, School of Chemistry and Materials Science, Heilongjiang University, No. 74, Xuefu Road, Nangang District, Harbin 150080, People's Republic of China.

Pd-catalyzed modification of C-H bonds via chelation with weakly coordinating groups normally requires a transient directing group or presynthesized nitrogen-based strong coordinating ligands. Herein, we report Pd(II)-catalyzed C(sp)-H arylation and alkenylation of Weinreb amides. A commercially available, inexpensive sulfonic acid was employed to enhance the coordination of the catalyst with weak-coordinating substrates by increasing the electrophilicity of in situ formed palladium catalysts.
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http://dx.doi.org/10.1021/acs.joc.1c00781DOI Listing
June 2021

Role of each step in the combined treatment of reactive ion etching and dynamic chemical etching for improving the laser-induced damage resistance of fused silica.

Opt Express 2021 Apr;29(8):12365-12380

We investigate the role of each step in the combined treatment of reactive ion etching (RIE) and dynamic chemical etching (DCE) for improving the laser-induced damage resistance of fused silica optics. We employ various surface analytical methods to identify the possible damage precursors on fused silica surfaces treated with different processes (RIE, DCE, and their combination). The results show that RIE-induced defects, including F contamination, broken Si-O bonds, luminescence defects (i.e., NBOHCs and ODCs), and material densification, are potential factors that limit the improvement of laser-induced damage resistance of the optics. Although being capable of eliminating the above factors, the DCE treatment can achieve rough optical surface with masses of exposed scratches and pits which might serve as reservoirs of the deposits such as inorganic salts, thus limiting the further improvement in damage resistance of fused silica. The study guides us to a deep understanding of the laser-induced damage process in achieving fused silica optics with enhanced resistance to laser-induced damage by the combined treatment of RIE and DCE.
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http://dx.doi.org/10.1364/OE.415438DOI Listing
April 2021

Clinical Characteristics and Prognostic Factors of Children With Anti-N-Methyl-D-Aspartate Receptor Encephalitis.

Front Pediatr 2021 22;9:605042. Epub 2021 Apr 22.

Department of Neurology, Hunan Children's Hospital, Changsha, China.

Anti-N-methyl-D-aspartate (anti-NMDA) receptor encephalitis is the most common autoimmune encephalitis in pediatric patients. The study aimed to investigate the clinical characteristics and prognostic factors of anti-NMDA receptor encephalitis in children in South China. This was a retrospective study of children diagnosed with anti-NMDA receptor encephalitis between 01/2014 and 12/2017 at Hunan Children's Hospital. Laboratory, brain magnetic resonance imaging (MRI), and electroencephalography data were collected. The short-term (6-month) outcomes were assessed using the Liverpool score by the same pediatric neurologist. The children were divided into good (scores 4-5) and poor (score <3) clinical outcomes. Among the 51 patients, 21 (41.2%) were male. The most common clinical symptoms were dyskinesia (88.2%), personality change (84.3%), seizure (82.4%), and cognitive disorder (31.4%). Two were transferred to another hospital, 45 (91.8%) received intravenous immunoglobulins, 41 (83.7%) received methylprednisolone, and 8 (16.3%) received plasma exchange. Eight (16.3%) received rituximab for second-line treatment, six after intravenous immunoglobulin and methylprednisolone treatment, and two after plasma exchange therapy failed. Seven were lost to follow-up. The short-term outcome was good in 23 patients. Cognitive disorder [odds ratio (OR): 23.97, 95% confidence interval (CI): 1.12-513.30, = 0.042) and abnormal brain MRI (OR: 14.29, 95% CI: 1.36-150.10, = 0.027] were independently associated with a poor short-term outcome after adjustment for age, GCS, and rituximab use. MRI abnormalities and cognitive disorders are independently associated with poor short-term outcomes in children with anti-NMDA receptor encephalitis. The use of rituximab is not associated with the 6-month outcomes.
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http://dx.doi.org/10.3389/fped.2021.605042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8100243PMC
April 2021

Conducting polymer hydrogels as a sustainable platform for advanced energy, biomedical and environmental applications.

Sci Total Environ 2021 Sep 30;786:147430. Epub 2021 Apr 30.

Key Laboratory of Jiangxi Province for Persistent Pollutants Control and Resources Recycle, Nanchang Hangkong University, Nanchang 330063, PR China; National-Local Joint Engineering Research Center of Heavy Metals Pollutants Control and Resource Utilization, Nanchang Hangkong University, Nanchang 330063, PR China. Electronic address:

Environmentally friendly polymeric materials and derivative technologies play increasingly important roles in the sustainable development of our modern society. Conducting polymer hydrogels (CPHs) synergizing the advantageous characteristics of conventional hydrogels and conducting polymers are promising to satisfy the requirements of environmental sustainability. Beyond their use in energy and biomedical applications that require exceptional mechanical and electrical properties, CPHs are emerging as promising contaminant adsorbents owing to their porous network structure and regulable functional groups. Here, we review the currently available strategies for synthesizing CPHs, focusing primarily on multifunctional applications in energy storage/conversion, biomedical engineering and environmental remediation, and discuss future perspectives and challenges for CPHs in terms of their synthesis and applications. It is envisioned to stimulate new thinking and innovation in the development of next-generation sustainable materials.
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http://dx.doi.org/10.1016/j.scitotenv.2021.147430DOI Listing
September 2021

Deposition of ambient particles in the human respiratory system based on single particle analysis: A case study in the Pearl River Delta, China.

Environ Pollut 2021 Aug 1;283:117056. Epub 2021 Apr 1.

Guangdong-Hongkong-Macau Joint Laboratory of Collaborative Innovation for Environmental Quality, Institute for Environmental and Climate Research, Jinan University, Guangzhou, 510632, PR China. Electronic address:

It is important to evaluate how ambient particles are deposited in the human respiratory system in view of the adverse effects they pose to human health. Traditional methods of investigating human exposure to ambient particles suffer from drawbacks related either to the lack of chemical information from particle number-based measurements or to the poor time resolution of mass-based measurements. To address these issues, in this study, human exposure to ambient particulate matter was investigated using single particle analysis, which provided chemical information with a high time resolution. Based on single particle measurements conducted in the Pearl River Delta, China, nine particle types were identified, and EC (elemental carbon) particles were determined to be the most dominant type of particle. In general, the submicron size mode was dominant in terms of the number concentration for all of the particle types, except for Na-rich and dust particles. On average, around 34% of particles were deposited in the human respiratory system with 13.9%, 7.9%, and 12.6% being distributed in the head, tracheobronchial, and pulmonary regions, respectively. The amount of Na-rich particles deposited was the highest, followed by EC. The overall deposition efficiencies of the Na-rich and dust particles were higher than those of the other particle types due to their higher efficiencies in the head region, which could be caused by the greater sedimentation and impaction rates of larger particles. In the head region, the Na-rich particles made the largest contribution (30.5%) due to their high deposition efficiency, whereas in the tracheobronchial and pulmonary regions, EC made the largest contribution due to its high concentration. In summary, the findings of this initial trial demonstrate the applicability of single particle analysis to the assessment of human exposure to ambient particles and its potential to support traditional methods of analysis.
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http://dx.doi.org/10.1016/j.envpol.2021.117056DOI Listing
August 2021

Parental mosaicism in de novo neurodevelopmental diseases.

Am J Med Genet A 2021 07 14;185(7):2119-2125. Epub 2021 Apr 14.

Department of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, China.

Neurodevelopmental diseases are increasingly recognized to be caused by "de novo" variants with the expanding use of next-generation sequencing. The apparent de novo variants may actually be low-level hereditary parental mosaic variants, which could increase the recurrence risk of disease by >50% and is thought to be an underappreciated cause of neurodevelopmental diseases. Our study aimed to investigate the frequency of parental mosaicism in "de novo" neurodevelopmental diseases. A total of 237 patients (and parents) with neurodevelopmental diseases carrying apparent de novo pathogenic or likely pathogenic variants were recruited consecutively. Deep next-generation sequencing was performed on parental samples to identify parental mosaicism. Fourteen parental disease-causing mosaicism variants (3.0%) in 11 genes were detected with alternate allele frequency (AAF) 0.22%-34%. Three parents showed milder clinical phenotypes than their offspring with relatively high AAF (23.33%, 25%, 34% separately). One recurrent variant was identified prenatally. A review of cohort study on parental mosaicism in neurodevelopmental diseases was performed. Our study highlights that identifying the parental mosaic disease-causing variants especially the low-level mosaicism will contribute to improving the accuracy of genetic counseling and prenatal diagnosis for reproductive risks.
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http://dx.doi.org/10.1002/ajmg.a.62174DOI Listing
July 2021

Insights into ion imprinted membrane with a delayed permeation mechanism for enhancing Cd selective separation.

J Hazard Mater 2021 08 31;416:125772. Epub 2021 Mar 31.

Key Laboratory of Jiangxi Province for Persistent Pollutants Control and Resources Recycle, Nanchang Hangkong University, Nanchang 330063, China. Electronic address:

Ion imprinted polymers exhibit great potential in ion separation from wastewater. However, the difficulty of ion separation by membrane is proverbial, which severely restricts the application of membrane in metal resource recovery from industrial wastewater. Herein, a rational molecular-level design approaches for membrane fabrication was developed to modify a layer of ion imprinted polymer onto the PVDF membrane. Batch rebind and permeation experiments suggest that specific host-guest binding sites had been fabricated along the membrane pore in ion imprinted membranes (IIM). A higher monomer dose leads to a higher rejection of Cd, and the more bind sites in IIM. The binding of IIM to Cd was 1.84 times that of non-ion imprinted membranes (NIM). Permselectivity factors (γ) of IIM are larger than 5.39 in mixture ions solutions. Chemical characterization and density functional theory (DFT) calculation reveal that the Cd recognition sites of functional groups are C-S and C˭S. Cd mass transport in IIM suggest that the imprint effects provide a binding force that would delay Cd to permeate through IIM, so as to selectively separate Cd with other ions. The imprint effects may enlighten a novel molecular-level design approaches for membrane fabrication to enhance the selectivity of ion-ion.
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http://dx.doi.org/10.1016/j.jhazmat.2021.125772DOI Listing
August 2021

Electrochemical recovery and high value-added reutilization of heavy metal ions from wastewater: Recent advances and future trends.

Environ Int 2021 07 21;152:106512. Epub 2021 Mar 21.

National-Local Joint Engineering Research Center of Heavy Metals Pollutants Control and Resource Utilization, Nanchang Hangkong University, Nanchang 330063, PR China; Key Laboratory of Jiangxi Province for Persistent Pollutants Control and Resources Recycle, Nanchang Hangkong University, Nanchang 330063, PR China. Electronic address:

Wastewater treatment for heavy metals is currently transitioning from pollution remediation towards resource recovery. As a controllable and environment-friendly method, electrochemical technologies have recently gained significant attention. However, there is a lack of systematic and goal oriented summarize of electrochemical metal recovery techniques, which has inhibited the optimized application of these methods. This review aims at recent advances in electrochemical metal recovery techniques, by comparing different electrochemical recovery methods, attempts to target recycling heavy metal resources with minimize energy consumption, boost recovery efficiency and realize the commercial application. In this review, different electrochemical recovery methods (including E-adsorption recovery, E-oxidation recovery, E-reduction recovery, and E-precipitation recovery) for recovering heavy metals are introduced, followed an analysis of their corresponding mechanisms, influencing factors, and recovery efficiencies. In addition, the mass transfer efficiency can be promoted further through optimizing electrodes and reactors, and multiple technologies (photo-electrochemical and sono-electrochemical) could to be used synergistically improve recovery efficiencies. Finally, the most promising directions for electrochemical recovery of heavy metals are discussed along with the challenges and future opportunities of electrochemical technology in recycling heavy metals from wastewater.
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http://dx.doi.org/10.1016/j.envint.2021.106512DOI Listing
July 2021
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