Publications by authors named "Yi Tang"

1,072 Publications

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Apolipoprotein A5 ameliorates MCT induced pulmonary hypertension by inhibiting ER stress in a GRP78 dependent mechanism.

Lipids Health Dis 2022 Aug 8;21(1):69. Epub 2022 Aug 8.

Department of Cardiovascular Medicine, Second Xiangya Hospital of Central South University, No. 139 Middle Renmin Road, Furong District, Changsha City, Hunan Province, 410011, China.

Background: Pulmonary arterial hypertension (PAH) is a chronic, progressive lung vascular disease accompanied by elevated pulmonary vascular pressure and resistance, and it is characterized by increased pulmonary artery smooth muscle cell (PASMC) proliferation. Apolipoprotein A5 (ApoA5) improves monocrotaline (MCT)-induced PAH and right heart failure; however, the underlying mechanism remains unknown. Here we speculate that ApoA5 has a protective effect in pulmonary vessels and aim to evaluate the mechanism.

Methods: ApoA5 is overexpressed in an MCT-induced PAH animal model and platelet-derived growth factor (PDGF)-BB-induced proliferating PASMCs. Lung vasculature remodeling was measured by immunostaining, and PASMC proliferation was determined by cell counting kit-8 and 5-ethynyl-2'-deoxyuridine5-ethynyl-2'-deoxyuridine incorporation assays. Coimmunoprecipitation-mass spectrometry was used to investigate the probable mechanism. Next, its role and mechanism were further verified by knockdown studies.

Results: ApoA5 level was decreased in MCT-induced PAH lung as well as PASMCs. Overexpression of ApoA5 could help to inhibit the remodeling of pulmonary artery smooth muscle. ApoA5 could inhibit PDGF-BB-induced PASMC proliferation and endoplasmic reticulum stress by increasing the expression of glucose-regulated protein 78 (GRP78). After knocking down GRP78, the protecting effects of ApoA5 have been blocked.

Conclusion: ApoA5 ameliorates MCT-induced PAH by inhibiting endoplasmic reticulum stress in a GRP78 dependent mechanism.
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http://dx.doi.org/10.1186/s12944-022-01680-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9358849PMC
August 2022

Improved atmospheric mercury simulation using updated gas-particle partition and organic aerosol concentrations.

J Environ Sci (China) 2022 Sep 14;119:106-118. Epub 2022 Apr 14.

Center for Excellence in Regional Atmos. Environ., Institute of Urban Environment, Chinese Academy of Sciences, Xiamen 361021, China.

The gaseous or particulate forms of divalent mercury (Hg) significantly impact the spatial distribution of atmospheric mercury concentration and deposition flux (FLX). In the new nested-grid GEOS-Chem model, we try to modify the Hg gas-particle partitioning relationship with synchronous and hourly observations at four sites in China. Observations of gaseous oxidized Hg (GOM), particulate-bound Hg (PBM), and PM were used to derive an empirical gas-particle partitioning coefficient as a function of temperature (T) and organic aerosol (OA) concentrations under different relative humidity (RH). Results showed that with increasing RH, the dominant process of Hg gas-particle partitioning changed from physical adsorption to chemical desorption. And the dominant factor of Hg gas-particle partitioning changed from T to OA concentrations. We thus improved the simulated OA concentration field by introducing intermediate-volatility and semi-volatile organic compounds (I/SVOCs) emission inventory into the model framework and refining the volatile distributions of I/SVOCs according to new filed tests in the recent literatures. Finally, normalized mean biases (NMBs) of monthly gaseous element mercury (GEM), GOM, PBM, WFLX were reduced from -33%-29%, 95%-300%, 64%-261%, 117%-122% to -13%-0%, -20%-80%, -31%-50%, -17%-23%. The improved model explains 69%-98% of the observed atmospheric Hg decrease during 2013-2020 and can serve as a useful tool to evaluate the effectiveness of the Minamata Convention on Mercury.
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http://dx.doi.org/10.1016/j.jes.2022.04.007DOI Listing
September 2022

The epigenetic state of EED-Gli3-Gli1 regulatory axis controls embryonic cortical neurogenesis.

Stem Cell Reports 2022 Aug 1. Epub 2022 Aug 1.

State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China; University of Chinese Academy of Sciences, Beijing 100049, China; Institute for Stem Cell and Regeneration, Chinese Academy of Sciences, Beijing 100101, China; Beijing Institute for Stem Cell and Regenerative Medicine, Beijing 100101, China. Electronic address:

Mutations in the embryonic ectoderm development (EED) cause Weaver syndrome, but whether and how EED affects embryonic brain development remains elusive. Here, we generated a mouse model in which Eed was deleted in the forebrain to investigate the role of EED. We found that deletion of Eed decreased the number of upper-layer neurons but not deeper-layer neurons starting at E16.5. Transcriptomic and genomic occupancy analyses revealed that the epigenetic states of a group of cortical neurogenesis-related genes were altered in Eed knockout forebrains, followed by a decrease of H3K27me3 and an increase of H3K27ac marks within the promoter regions. The switching of H3K27me3 to H3K27ac modification promoted the recruitment of RNA-Pol2, thereby enhancing its expression level. The small molecule activator SAG or Ptch1 knockout for activating Hedgehog signaling can partially rescue aberrant cortical neurogenesis. Taken together, we proposed a novel EED-Gli3-Gli1 regulatory axis that is critical for embryonic brain development.
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http://dx.doi.org/10.1016/j.stemcr.2022.07.004DOI Listing
August 2022

Differential immune responses of 3D gingival and periodontal connective tissue equivalents to microbial colonization.

J Tissue Eng 2022 Jan-Dec;13:20417314221111650. Epub 2022 Jul 29.

Faculty of Dentistry, National University of Singapore, Singapore.

Gingival and periodontal ligament fibroblasts are functionally distinct cell types within the dento-gingival unit that participate in host immune response. Their microenvironment influences the behavior and immune response to microbial challenge. We developed three-dimensional gingival and periodontal connective tissue equivalents (CTEs) using human fibrin-based matrix. The CTEs were characterized, and the heterogeneity in their innate immune response was investigated. The CTEs demonstrated no to minimal response to planktonic and , while their biofilms elicited a moderate increase in IL-6 and IL-8 production. In contrast, provoked a substantial increase in IL-6 and IL-8 production. Interestingly, the gingival CTEs secreted significantly higher IL-6, while periodontal counterparts produced higher IL-8. In conclusion, the gingival and periodontal CTEs exhibited differential responses to various bacterial challenges. This gives insights into the contribution of tissue topography and fibroblast heterogeneity in rendering protective and specific immune responses toward early biofilm colonizers.
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http://dx.doi.org/10.1177/20417314221111650DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9340411PMC
July 2022

Co-Occurrence Relationship and Stochastic Processes Affect Sedimentary Archaeal and Bacterial Community Assembly in Estuarine-Coastal Margins.

Microorganisms 2022 Jul 1;10(7). Epub 2022 Jul 1.

School of Environmental and Chemical Engineering, Shanghai University, Shanghai 200444, China.

Sedimentary microorganisms play crucial roles in maintaining the functional stability of aquatic ecosystems. However, their taxonomic composition and assembly processes are not well known in estuarine-coastal margins because of their complex environment. We investigated microbial communities, co-occurrence relationships, and underlying mechanisms in 33 surface sediment samples collected in the Jiulong River Estuary and the Taiwan Strait to reveal their composition dynamics. The abundance, diversity, and composition of microorganisms demonstrated obvious spatial variables. and as well as Candidatus_ and were the main methanogenic and ammonia-oxidizing archaea, with an average abundance of more than 5.91% and 4.27%, respectively. Along with a salinity gradient increase, the relative abundance of methanogenic archaea (from 42.9% to 16.6%) contrasted with the trend of ammonia-oxidizing archaea (from 6.04% to 18.7%). The number of methanogenic archaea gradually decreased with increasing geographic distance ( < 0.05), whereas ammonia-oxidizing archaea showed no significant change ( > 0.05). In co-occurrence patterns, closer inter-taxa connections were observed among archaea-archaea and bacteria-bacteria than in archaea-bacteria, which indicated that coexistence within the same kingdom was greater than interaction between different kingdoms in shaping the community structure along the salinity gradient. Furthermore, null model analyses of the microbial community showed that undominated was the most prominent process, explaining over 44.9% of community variation, followed by heterogeneous selection and dispersal limitation, which contributed to 27.7% and 16.3%, respectively. We demonstrated that stochasticity, rather than determinism, regulates community assembly. These results further highlight that intra-kingdom co-occurrence and stochastic processes shape the structure and assembly of microbial communities in estuarine-coastal margins.
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http://dx.doi.org/10.3390/microorganisms10071339DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9318014PMC
July 2022

Corrigendum: Transcriptome and Metabolome Analyses Reveal Molecular Responses of Two Pepper ( L.) Cultivars to Cold Stress.

Front Plant Sci 2022 6;13:975330. Epub 2022 Jul 6.

College of Horticulture, Sichuan Agricultural University, Chengdu, China.

[This corrects the article DOI: 10.3389/fpls.2022.819630.].
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http://dx.doi.org/10.3389/fpls.2022.975330DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9296853PMC
July 2022

Main Pathological Changes of Benign Ureteral Strictures.

Front Med (Lausanne) 2022 7;9:916145. Epub 2022 Jul 7.

Department of Urology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.

Objective: To identify the pathological classification of benign ureteral strictures according to the histological features and explore the relationship between various pathological types and inflammatory cells, fibroblasts, and collagen.

Patients And Methods: Thirty one specimens from patients diagnosed with ureteral strictures between 2013 and 2021 were included and classified according to the histopathological characteristics. The number of fibroblasts and inflammatory cells was counted, and the proportion of type I and type III collagen in ureteral stricture tissues was detected by picrosirius red staining.

Results: We identified three types of benign ureteral strictures in 31 specimens: inflammatory cell infiltration ( = 10, 32%), fibroplasia ( = 14, 45%), and hyalinization ( = 7, 23%), with significant differences in obstruction history and hydronephrosis grades among the three types. The number of inflammatory cells (lymphocytes, neutrophils and eosinophils) was significantly lower in hyalinization ureteral strictures than in the other two types ( < 0.05). The number of foreign-body giant cells associated with foreign-body reactions increased significantly in suture-induced ureteral strictures ( < 0.05). Fibroplasia type had the largest number of fibroblasts, whereas the other two types had smaller numbers. The results of type I and III collagen analysis showed that type I and III collagen were the most abundant in hyalinization among all ureteral stricture types ( < 0.05). Compared to ureteral strictures, the content of type I and III collagen in atresia increased significantly ( < 0.05).

Conclusion: Common pathological types of benign ureteral strictures include inflammatory cell infiltration, fibroplasia, and hyalinization. Changes in type I and III collagen, inflammatory cells, and fibroblasts in different pathological types may be related to the progression of ureteral strictures.
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http://dx.doi.org/10.3389/fmed.2022.916145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9300898PMC
July 2022

Soft Template-Based Synthesis of Mesoporous Phosphorus- and Boron-Codoped NiFe-Based Alloys for Efficient Oxygen Evolution Reaction.

Small 2022 Jul 21:e2203411. Epub 2022 Jul 21.

Department of Life Science and Medical Bioscience, School of Advanced Science and Engineering, Waseda University, 3-4-1 Okubo, Shinjuku, Tokyo, 169-8555, Japan.

Controlling the morphology, composition, and crystalline phase of mesoporous nonnoble metal catalysts is essential for improving their performance. Herein, well-defined P- and B-codoped NiFe alloy mesoporous nanospheres (NiFeB-P MNs) with an adjustable Ni/Fe ratio and large mesopores (11 nm) are synthesized via soft-template-based chemical reduction and a subsequent phosphine-vapor-based phosphidation process. Earth-abundant NiFe-based materials are considered promising electrocatalysts for the oxygen evolution reaction (OER) because of their low cost and high intrinsic catalytic activity. The resulting NiFeB-P MNs exhibit a low OER overpotential of 252 mV at 10 mA cm , which is significantly smaller than that of B-doped NiFe MNs (274 mV) and commercial RuO (269 mV) in alkaline electrolytes. Thus, this work highlights the practicality of designing mesoporous nonnoble metal structures and the importance of incorporating P in metallic-B-based alloys to modify their electronic structure for enhancing their intrinsic activity.
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http://dx.doi.org/10.1002/smll.202203411DOI Listing
July 2022

Evolutionary patterns of plastome resolve multiple origins of the Ns-containing polyploid species in Triticeae.

Mol Phylogenet Evol 2022 Oct 19;175:107591. Epub 2022 Jul 19.

Triticeae Research Institute, Sichuan Agricultural University, Chengdu 611130, Sichuan, China. Electronic address:

Tracing evolutionary history proves challenging for polyploid groups that have evolved rapidly, especially if an ancestor of a polyploid is extinct. The Ns-containing polyploids are recognized as the NsXm and StHNsXm genomic constitutions in Triticeae. The Ns originated from Psathyrostachys, while the Xm represented a genome of unknown origin. Here, we use genetic information in plastome to trace the complex lineage history of the Ns-containing polyploid species by sampling 26 polyploids and 90 diploid taxa representing 23 basic genomes in Triticeae. Phylogenetic reconstruction, cluster plot of genetic distance matrix, and migration event demonstrated that (1) the Ns plastome originated from different Psathyrostachys species, and the Xm plastome may originate from an ancestral lineage of Henrardia, Agropyron, and Eremopyrum; (2) the Ns, Xm, and St genome donors separately served as the maternal parents during the speciation of the Ns-containing polyploid species, resulting in a maternal haplotype polymorphism; (3) North AmericanLeymusspecies might originate from colonization during late Miocene via the Bering land bridge and were the paternal donor of the StHNsXm genome Pascopyrum species. Our results shed new light on our understanding of the rich diversity and ecological adaptation of the Ns-containing polyploid species.
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http://dx.doi.org/10.1016/j.ympev.2022.107591DOI Listing
October 2022

[email protected] hollow nanosphere-based composites used for the sensitive detection of hydrogen sulfide with long-term stability.

Anal Methods 2022 Jul 29;14(29):2866-2875. Epub 2022 Jul 29.

Hunan Provincial Key Laboratory of Materials Protection for Electric Power and Transportation, Hunan Provincial Key Laboratory of Cytochemistry, School of Chemistry and Chemical Engineering, Changsha University of Science and Technology, Changsha 410114, China.

In this study, zinc [email protected] oxide hollow nanospheres ([email protected] HNS, 330 nm in diameter) were successfully prepared by a hard-template method using amino-phenolformaldehyde resin spheres (APF) as the templates. A new type of thin-film gas sensor toward hydrogen sulfide (HS) was fabricated by means of drop-coating on the gold electrode of an alumina ceramic tube. The microstructure and morphology of the nanosphere composites were characterized by scanning electron microscopy (SEM) and transmission electron microscopy (TEM), and the gas-sensing performance of the composites toward the detection of HS were investigated. The [email protected] nanocomposite with a hollow structure exhibited good gas-sensing properties. Under the optimum operating temperature of 260 °C, ambient temperature of 30 °C, and ambient humidity of 70%, the linear response of the sensor to HS was in the concentration range of 0.1-100 ppm, and its detection limit reached 0.0611 ppm, with a quick response time of 78 s. Also, the sensor possessed good repeatability, selectivity, and stability. The long-term stability and run duration of such sensors were pronounced, with only a 1.9% reduction in the signal after the continuous monitoring of HS gas in a pig farm for 18 months using Alibaba's cloud remote transmission system, which presents an important practical application prospect in atmosphere environment monitoring on livestock-raising fields.
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http://dx.doi.org/10.1039/d2ay00847eDOI Listing
July 2022

In Situ Electrosynthesis of MAX-Derived Electrocatalysts for Superior Hydrogen Evolution Reaction.

Small 2022 Aug 17;18(32):e2203471. Epub 2022 Jul 17.

Electronic Materials Research Laboratory, Key Laboratory of the Ministry of Education, International Center for Dielectric Research, Shaanxi Engineering Research Center of Advanced Energy Materials and Devices, School of Electronic Science and Engineering, Xi'an Jiaotong University, Xi'an, 710049, P. R. China.

MAX phases are frequently dominated as precursors for the preparation of the star material MXene, but less eye-dazzling by their own potential applications. In this work, the electrocatalytic hydrogen evolution reaction (HER) activity of MAX phase is investigated. The MAX-derived electrocatalysts are prepared by a two-step in situ electrosynthesis process, an electrochemical etching step followed by an electrochemical deposition step. First, a Mo TiAlC MAX phase is electrochemically etched in 0.5 m H SO electrolyte. Just several hours, electrochemical dealloy etching of Mo TiAlC MAX powders by applying anode current can acquire a moderated HER performance, outperforming most of reported pure MXene. It is speculated that in situ superficially architecting endogenous MAX/amorphous carbide (MAC) improves its intrinsic catalytic activity. Subsequently, highly active metallic Pt nanoparticles immobilized on MAC ([email protected]) shows a transcendental overpotential of 40 mV versus RHE in 0.5 m H SO and 79 mV in 1.0 m KOH at the current density of 10 mA cm without iR correction. Ultrahigh mass activity of [email protected] (1.5 A mg ) at 100 mV overpotential is also achieved, 29-folds than those of commercial PtC catalysts.
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http://dx.doi.org/10.1002/smll.202203471DOI Listing
August 2022

Red blood cell distribution width in different time-points of peripheral thrombolysis period in acute ischemic stroke is associated with prognosis.

Aging (Albany NY) 2022 Jul 13;14(14):5749-5767. Epub 2022 Jul 13.

State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

The relationship between red blood cell distribution width (RDW) in peripheral thrombolysis period and prognosis is not fully clarified in those who underwent intravenous thrombolysis (IVT) for acute ischemic stroke (AIS). Our study aimed to clarify this issue. A retrospective analysis of about 510 consecutive thrombolysis cases for AIS from January 2015 to March 2019 in a single-center database was done and followed-up for 3 months. We used univariate and multivariable models to evaluate the relationship between RDW levels at various time-points after IVT and the occurrence risk of hemorrhagic transformation (HT) and recurrent stroke, and used COX regression to assess the hazard ratios of outcomes with RDW levels. Elevated risk of HT was found in higher tertiles of RDW (OR = 10.282, 95% confidence interval (CI) 2.841-39.209, < 0.001 in Tp tertile G3; OR = 5.650, 95% CI 1.992-16.025, = 0.001 in T24 tertile G3; OR = 4.308, 95% CI 1.480-12.542, = 0.007 in T48 tertile G3 and OR = 6.384, 95% CI 2.201-18.515, = 0.001 in T72 tertile G3, respectively). Occurrence of recurrent stroke was highest in the RDW tertile G3 (HR = 4.580, 95% CI 2.123-9.883, < 0.001 in Tp tertile G3; HR = 5.731, 95% CI 2.498-13.151, = 0.001 in T24 tertile G3; HR = 3.019, 95% CI 1.969-4.059, = 0.031 in T48 tertile G3; HR = 3.318, 95% CI 1.598-6.890, = 0.001 in T72 tertile G3, respectively). Mean RDW levels ≥13.60 among AIS patients undergoing thrombolysis was associated with higher risk of HT and recurrent stroke.
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http://dx.doi.org/10.18632/aging.204174DOI Listing
July 2022

The Effects of Normal Aging, Subjective Cognitive Decline, Mild Cognitive Impairment, or Alzheimer's Disease on Visual Search.

J Alzheimers Dis 2022 Jul 7. Epub 2022 Jul 7.

Beijing Institute for Brain Disorders, Capital Medical University, Beijing, China.

Background: Alzheimer's disease (AD) has been confirmed as an influencing factor of visual impairment, but potential concomitant effects on visual and cognitive performance are not well understood.

Objective: To provide a new method for early screening of Alzheimer's disease and further explore the theoretical mechanism of the decline of whole visual and cognitive performance in AD.

Methods: We studied 60 individuals without dementia as normal control (NC), 74 individuals with subjective cognitive decline (SCD), 60 individuals with amnesia mild cognitive impairment (aMCI), and 75 patients with AD on a battery of tests designed to measure multiple aspects of basic and higher-order visual perception and cognition. All subjects performed on same visual and cognitive test batteries.

Results: The results showed both of four groups, with the stimulus-presentation time being longer, the visual-search performance improved, and both the eye interest-area first fixation duration and the interest-area-fixation count increased. Particularly under the noise-masking condition, the AD group performed the worst at stimulus-presentation times between 300 and 900 ms. The aMCI group, but not the SCD group, performed worse than the NC group at the stimulus-presentation time of either 300 or 500 ms. The interest-area-fixation count was higher in all the patient groups than that in the NC group, and distinguishable between participants with AD and those with SCD or aMCI.

Conclusion: The visual-search performance combined with eye-movement tracking under the noise-masking condition can be used for distinguishing AD from normal aging, SCD, and aMCI.
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http://dx.doi.org/10.3233/JAD-220209DOI Listing
July 2022

Variation in the Main Health-Promoting Compounds and Antioxidant Activity of Different Edible Parts of Purple Flowering Stalks ( var. ) and Green Flowering Stalks ( var. ).

Plants (Basel) 2022 Jun 23;11(13). Epub 2022 Jun 23.

College of Horticulture, Sichuan Agricultural University, Chengdu 611130, China.

Purple flowering stalks and green flowering stalks of are widely cultivated in the middle and upper reaches of the Yangtze River. Here, concentrations of the main health-promoting compounds and antioxidant capacity levels were characterized in different parts (leaves, peel, flesh, and inflorescences) of purple and green flowering stalks. There were significant differences in the concentrations of health-promoting compounds between the two variants; the concentrations of pigments, especially anthocyanidins, and gluconapin, were significantly higher in purple flowering stalks than in green flowering stalks, and the progoitrin content was significantly higher in green flowering stalks than in purple flowering stalks. The leaves were judged to be the most nutritional edible part because they had the highest concentrations of pigments, ascorbic acid, proanthocyanidins, flavonoids, and total phenolics. Antioxidant capacity was also highest in the leaves, and it was positively correlated with the concentration of health-promoting compounds. Purple flowering stalks and green flowering stalks were found to be rich in health-promoting compounds, especially glucosinolates. Overall, our findings indicate that consumption of the leaves and peel would provide the most health benefits. Some suggestions are provided regarding the processing and utilization of these edible components.
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http://dx.doi.org/10.3390/plants11131664DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9269110PMC
June 2022

LncRNA-mRNA Expression Profiles of Osteoclast After Conditional Knockout HIF-1α.

Front Genet 2022 21;13:909095. Epub 2022 Jun 21.

Department of Oral and Maxillofacial Surgery, School and Hospital of Stomatology, Tongji University, Shanghai, China.

Osteoclasts, which are multinucleated cells formed by monocyte fusion, play a key role in bone resorption. Hypoxia-inducible factor (HIF)-1α is vital for the development of osteoclasts in hypoxic environments and during bone resorption. However, additional research is required to further study the HIF-1α-dependent regulation of osteoclast differentiation at the genetic level. In our study, RNA sequencing (RNA-seq) was used to identify the expression profiles of long noncoding RNAs (lncRNAs) and mRNAs in conditional HIF-1α-knockout osteoclasts. A total of 1,320 mRNAs and 95 lncRNAs were differentially expressed. The expression of lncRNAs MSTRG.7566.12 and MSTRG.31769.2 were strongly negatively correlated with that of Mmp9, Ctsk, etc. Our research provides a basis for further understanding the role of mRNAs and lncRNAs in conditional HIF-1α-knockout osteoclasts, and many of these molecules may be potential targets for treating bone diseases related to HIF-1α.
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http://dx.doi.org/10.3389/fgene.2022.909095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9253292PMC
June 2022

Arginine ADP-ribosyltransferase 1 Regulates Glycolysis in Colorectal Cancer via the PI3K/AKT/HIF1α Pathway.

Curr Med Sci 2022 Jul 7. Epub 2022 Jul 7.

Department of Pathology, Affiliated Hospital of Southwest Medical University, Luzhou, 646099, China.

Objective: Arginine ADP-ribosyltransferase 1 (ART1) is involved in the regulation of a diverse array of pathophysiological processes, including proliferation, invasion, apoptosis, autophagy and angiogenesis of colorectal cancer (CRC) cells. However, how ART1 regulates glycolysis in CRC remains elusive.

Methods: To elucidate the role of ART1 in glycolysis in CRC, we assessed the protein level of ART1, hypoxia-inducible factor 1α (HIF1α), and glucose transporter type 1 (GLUT1) in 61 CRC tumor tissue specimens obtained from patients with different 2-[F]fluoro-2-deoxy-D-glucose (F-FDG) uptake as analyzed by PET/CT before surgery. Colon adenocarcinoma CT26 cells with ART1 knockdown and overexpression were established, respectively, and the molecular mechanism underlying the effect of ART1 on glycolysis in CRC was determined both in vivo and in vitro.

Results: The expression of ART1 and GLUT1 was significantly associated with FDG uptake (P=0.037 and P=0.022, respectively) in CRC tissues. Furthermore, the expression of hexokinase 2 (HK2) and lactate dehydrogenase (LDH) was upregulated in ART1-overexpressed CT26 cells, but was downregulated in ART1-knockdown CT26 cells. The volume and weight of subcutaneously transplanted tumors were markedly increased in the ART1-overexpressed BALB/c mice group and decreased in the ART1-knockdown group. In CT26 cells, the overexpression of ART1 promoted the expression levels of HK2 and LDH, and knockdown of ART1 suppressed them in the CT26 tumors. In both normal and hypoxic conditions, ART1 expression was associated with the protein level of phospho-serine/threonine kinase (p-AKT), HIF1α, and GLUT1 but not with that of AKT in CT26 cells and subcutaneous transplanted tumors.

Conclusion: ART1 plays a crucial role in the elevation of glucose consumption in CT26 cells and may regulate GLUT1-dependent glycolysis in CRC via the PI3K/AKT/HIF1α pathway.
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http://dx.doi.org/10.1007/s11596-022-2606-4DOI Listing
July 2022

Prognostic Value of Triglyceride to High-Density Lipoprotein Cholesterol Ratio (TG/HDL-C) in IgA Nephropathy Patients.

Front Endocrinol (Lausanne) 2022 20;13:877794. Epub 2022 Jun 20.

Department of Nephrology, West China Hospital of Sichuan University, Chengdu, Sichuan, China.

Background: The triglycerides to high-density lipoprotein cholesterol (TG/HDL-C) ratio is an easy-to-use atherogenic and prognostic marker which has attracted increasing attention these days. However, whether TG/HDL-C correlate with outcomes in IgA nephropathy (IgAN) patients remains unknown. To clarify these issues, we conducted this study.

Methods: A total of 1146 patients from West China Hospital of Sichuan University were retrospectively analysed between 2008 and 2018.The demographic, clinical and pathological data of all patients at the time of biopsy were collected. Then, patients were divided into the high TG/HDL group (TG/HDL ≥ 1.495, N=382) and the low TG/HDL group (TG/HDL-C < 1.495, N=764) based on the optimal cut-off value of the TG/HDL-C using receive operating curve. Cox proportional hazard models and Kaplan-Meier curves were used to evaluate the renal outcomes of IgAN.

Results: The median age of the patients was 33 (26-42) years, and 44.5% were men. By correlation analysis, we found that the TG/HDL-C ratio was negatively correlated with the eGFR (r = 0.250, < 0.001) but positively correlated with proteinuria (r = 0.230, < 0.001), BMI (r=0.380, P<0.001) and serum uric (r =0.308, < 0.001). Patients with a higher TG/HDL-C ratio tended to have hypertension [odds ratio (OR), 1.987; 95% CI, 1.527-2.587; <0.001] and more severe pathologic lesions with tubular atrophy/interstitial fibrosis (OR, 1.610; 95% CI, 1.203-2.154; =0.001). During a median follow-up period of 54.1 (35.6-73.2) months, a high TG/HDL ratio was strongly associated with worse renal survival in IgAN patients (log-rank: 0.001). Multivariate Cox analysis demonstrated that a high TG/HDL-C ratio (HR 1.775, 95% CI 1.056-2.798; =0.029) was an independent predictive marker to ESRD.

Conclusion: In this study, we addressed the importance of TG/HDL-C ratio as a predictive marker for IgAN progression.
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http://dx.doi.org/10.3389/fendo.2022.877794DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9251124PMC
June 2022

[Characterization of Endocrine Glands Involved in Erdheim-Chester Disease].

Zhongguo Yi Xue Ke Xue Yuan Xue Bao 2022 Jun;44(3):428-432

Department of Radiology,State Key Laboratory of Complex Severe and Rare Diseases,PUMC Hospital,CAMS and PUMC,Beijing 100730,China.

Objective To investigate the clinical and imaging characteristics of endocrine glands involved in Erdheim-Chester disease (ECD).Methods A retrospective analysis was performed on 48 ECD cases pathologically diagnosed from January 2014 to October 2020 in Peking Union Medical College Hospital,including 22 cases of endocrine gland involvement.The clinical,imaging,and pathological characteristics were summarized. Results Pituitary was involved in 17 cases (17/48,35.4%),adrenal gland in 8 cases (8/48,16.7%),and both pituitary and adrenal gland in 3 cases (3/48,6.25%).The most common symptom in patients with pituitary involvement was central diabetes insipidus (13/17,76.5%),and the T1-weighted imaging showed posterior pituitary hypersignal disappearance,pituitary stalk thickening,and abnormally enhanced pituitary nodules.The most common symptom in patients with adrenal gland involvement was adrenal function reduction (3/8,37.5%),and the CT scanning showed diffuse thickening of adrenal glands.BRAF V600E mutation was positive in 13 (13/22,59.1%) cases with ECD involving endocrine glands.Conclusion Pituitary and adrenal glands are the most common sites of ECD involving endocrine glands.A definite diagnosis can be achieved by combining clinical,imaging,and pathological characteristics for timely treatment.
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http://dx.doi.org/10.3881/j.issn.1000-503X.14477DOI Listing
June 2022

Review: The Development of Risk Factors and Cytokines in Retinal Vein Occlusion.

Front Med (Lausanne) 2022 15;9:910600. Epub 2022 Jun 15.

Eye Center of Second Hospital, Jilin University, Changchun, China.

Retinal vein occlusion (RVO) is the second most prevalent retinal disease. Despite this, the pathogenic mechanisms and risk factors are not entirely clear. In this article, we review recent publications on the classification, pathogenesis, risk factors, ischemic changes, cytokines, and vital complications of RVO. Risk factors and cytokines are important for exploring the mechanisms and new treatment targets. Furthermore, risk factors are interrelated, making RVO mechanisms more complex. Cytokines act as powerful mediators of pathological conditions, such as inflammation, neovascularization, and macular edema. This review aims to summarize the updated knowledge on risk factors, cytokines of RVO and signaling in order to provide valuable insight on managing the disease.
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http://dx.doi.org/10.3389/fmed.2022.910600DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9240302PMC
June 2022

Fuzzy Medical Computer Vision Image Restoration and Visual Application.

Comput Math Methods Med 2022 21;2022:6454550. Epub 2022 Jun 21.

School of Mechanical Engineering, Sichuan University, Chengdu 610065, China.

In order to shorten the image registration time and improve the imaging quality, this paper proposes a fuzzy medical computer vision image information recovery algorithm based on the fuzzy sparse representation algorithm. Firstly, by constructing a computer vision image acquisition model, the visual feature quantity of the fuzzy medical computer vision image is extracted, and the feature registration design of the fuzzy medical computer vision image is carried out by using the 3D visual reconstruction technology. Then, by establishing a multidimensional histogram structure model, the wavelet multidimensional scale feature detection method is used to achieve grayscale feature extraction of fuzzy medical computer vision images. Finally, the fuzzy sparse representation algorithm is used to automatically optimize the fuzzy medical computer vision images. The experimental results show that the proposed method has a short image information registration time, less than 10 ms, and has a high peak PSNR. When the number of pixels is 700, its peak PSNR can reach 83.5 dB, which is suitable for computer image restoration.
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http://dx.doi.org/10.1155/2022/6454550DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9239814PMC
July 2022

Green Tea Polyphenols Cause Apoptosis and Autophagy in HPV-16 Subgene-Immortalized Human Cervical Epithelial Cells via the Activation of the Nrf2 Pathway.

Nutr Cancer 2022 Jun 30:1-10. Epub 2022 Jun 30.

Guangzhou Medical University, Guangzhou, Guangdong Province, China.

Infection with human papillomavirus (HPV) is relatively common and certain high-risk HPV strains can induce epithelial dysplasia, increasing the risk of cervical cancer. Green tea polyphenol (GTP) preparations exhibit diverse anti-inflammatory, antioxidative, and antitumor properties In Vitro and In Vivo. Topical GTP application has been recommended as a treatment for genital warts, but the effect of GTP treatment on HPV infection and HPV-associated cancer remains to be established. The present study aimed to explore the mechanism by which GTP affected HPV type 16 (HPV-16)-positive immortalized human cervical epithelial cells. Survival, apoptosis, and autophagocytosis of these cells following GTP treatment was assessed using CCK-8 assay, flow cytometry, and monodansylcadaverine (MDC) staining. These cells were further transfected with an shRNA specific for Nrf2 to generate stable Nrf2-knockdown cells. The levels of Caspase-3, Bcl-2, Bax, P53, Rb, HPV-16 E6, HPV-16 E7, P62, Beclin1 and LC3B were determined via Western blotting. These analyses revealed that GTP treatment induced autophagy and apoptosis in HPV-16-positive cells, while Nrf2 gene knockdown reversed GTP-induced autophagic and apoptotic effects. Together, these results suggested that GTP could alleviate HPV infection and HPV-associated precancerous lesions In Vitro by regulating the Nrf2 pathway, highlighting the therapeutic potential of GTP in treating HPV infection.
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http://dx.doi.org/10.1080/01635581.2022.2093922DOI Listing
June 2022

Clinicopathological characteristics and risk factors in elderly patients with biopsy-proven IgA nephropathy.

Ren Fail 2022 Dec;44(1):1026-1036

Division of Nephrology, Department of Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan, China.

Background: Immunoglobulin A nephropathy (IgAN) has been well studied among young people, but few data on clinicopathological characteristics, treatment response and outcomes for elderly IgAN patients are available.

Methods: A cohort study of elderly IgAN patients was performed. The combined endpoints of renal outcome were a 50% decline in eGFR compared with the time of renal biopsy, end-stage kidney disease and/or death. Risk factors associated with poor renal outcomes were then determined. The benefits of immunosuppressant therapies were also evaluated by Kaplan-Meier survival curve analysis.

Results: This study ultimately included 126 elderly patients with IgAN. Comparison between the endpoint and non-endpoint groups indicated that patients with poor outcomes had more severe clinical features, such as worse kidney function, severe hematuria and lower albumin levels. Cox regression analysis indicated that age (HR 1.15, 95% CI 1.02-1.29,  = 0.021), male gender (HR 9.71, 95% CI 1.00-97.56,  = 0.050), and urine red blood cells (HR 1.003, 95% CI 1.000-1.006,  = 0.029) were independent risk factors for poor renal outcome in elderly IgAN patients. To explore possible reasons accounting for the predictive value of age and sex, patients were divided into two groups based on these two variables. Patients in the geriatric group had lower serum albumin, estimated glomerular filtration rate, hemoglobin and aspartate aminotransferase levels than those in the quinquagenarian group. Male patients tended to have higher hemoglobin, higher alanine aminotransferase, and lower triglycerides and cholesterol levels than female patients. To investigate different treatment responses, patients were classified into two groups depending on treatment strategies (renin-angiotensin system inhibitors and immunosuppressive therapy), and the survival analysis indicated no significant difference in kidney outcome between the two groups ( > 0.05). This result still holds after adjusting for age, sex, eGFR, hematuria, and proteinuria.

Conclusion: Advanced age, male, and hematuria might be independently associated with poor kidney outcomes in elderly patients with IgAN. Immunosuppressive therapy might confer no overall benefit to older IgAN patients.
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http://dx.doi.org/10.1080/0886022X.2022.2087527DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9246206PMC
December 2022

Intravenous thrombolysis prior to endovascular treatment for acute ischemic stroke: a meta-analysis.

Neurol Sci 2022 Jun 29. Epub 2022 Jun 29.

Stroke Research Center, Department of Neurology, Fujian Medical University Union Hospital, Fuzhou, China.

Objectives: Whether intravenous thrombolysis provides additional benefits before direct endovascular treatment (dEVT) in acute ischemic stroke remains unclear. We aimed to compare the functional and safety outcomes of dEVT to endovascular treatment with bridging using intravenous thrombolysis (BT) in acute ischemic stroke.

Methods: This meta-analysis included currently available eligible randomized clinical trials (RCTs) by searching in the PubMed, EMBASE, Cochrane Central Register, and the International Stroke Conference and European Stroke Organisation Conference posted abstracts.

Results: The six included RCTs yielded 2334 participants (mean age, 69.8 years [SD, 11.4]; women, 44.3%; 1164 in dEVT group and 1170 in BT group). We found not significantly different 90-day functional outcomes of modified Rankin scale (mRS 0 - 2, odds ratio [OR] 0.93, 95%CI 0.79 - 1.09; mRS 0 - 1, OR 0.99, 95%CI 0.82 - 1.18), mortality (OR 1.08, 95%CI 0.86 - 1.35), and symptomatic intracranial hemorrhage (OR 0.72, 95%CI 0.49 - 1.07) for patients in dEVT and BT group. Patients treated with dEVT were less likely to experience successful recanalization (OR 0.72, 95%CI 0.57 - 0.92, p = 0.009) and any intracranial hemorrhage (OR 0.81, 95%CI 0.68 - 0.97, p = 0.02). There were no significant differences regarding procedural complications between the two groups.

Conclusion: This meta-analysis showed no significant differences in 90-day functional outcomes or mortality between dEVT and BT, but a lower possibility of successful recanalization and intracranial hemorrhage for dEVT.
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http://dx.doi.org/10.1007/s10072-022-06233-2DOI Listing
June 2022

Association Between Circulating Cell-Free DNA Level at Admission and the Risk of Heart Failure Incidence in Acute Myocardial Infarction Patients.

DNA Cell Biol 2022 Aug 28;41(8):742-749. Epub 2022 Jun 28.

Department of Cardiology, Hunan Provincial People's Hospital, The First Affiliated Hospital of Hunan Normal University, Changsha, China.

Plasma cell-free DNA (cfDNA) was elevated in patients with acute myocardial infarction (AMI) or heart failure (HF). However, whether cfDNA could serve as a predictor for risk of HF after AMI remains unknown. In this study, we conducted a pilot prospective cohort study in which 98 AMI patients were enrolled from a single center to assess the association between cfDNA levels at admission and risk of HF in an AMI population. Patients with cfDNA above the median level (14.39 ng/mL) showed higher low-density lipoprotein cholesterol, cardiac troponin I (cTnI), and soluble suppression of tumorigenicity 2 (sST2) levels compared with patients below the median. cfDNA was positively correlated with cTnI ( = 0.377,  < 0.001) and sST2 ( = 0.443,  < 0.001). Within a median follow-up of about 345 days, 46 patients (52.6%) developed HF. Multivariate Cox analysis showed that a higher cfDNA (above the cutoff value: 9.227 ng/mL) was an effective risk predictor (C-index = 0.74, 95% confidence interval [CI]: 0.733-0.748) for HF incidence after AMI (adjusted hazard ratio [HR]: 2.805; 95% CI: 1.087-7.242;  = 0.033). Moreover, a linear association was observed between cfDNA and risk of HF incidence adjusted for by age, gender, and history of chronic kidney disease ( for linear trend = 0.044). Taken together, the cfDNA levels at admission are associated with the incidence of HF in AMI patients. A positive correlation between cfDNA and the fibrotic factor sST2 was proved, but the underlying mechanisms require further study.
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http://dx.doi.org/10.1089/dna.2022.0238DOI Listing
August 2022

Piezo-promoted persulfate activation by SrBiBO for efficient sulfadiazine degradation from water.

J Hazard Mater 2022 09 13;437:129359. Epub 2022 Jun 13.

Guangdong Key Laboratory of Environmental Pollution and Health, School of Environment, Jinan University, Guangzhou 510632, China. Electronic address:

Combining piezoelectric effect and persulfate (PS) activation is a newly developed strategy for refractory emerging contaminants removal. In this work, borate SrBiBO (SBBO) is firstly developed as a piezoelectric material to piezo-assisted activation of PS for the removal of sulfadiazine (SDZ) under ultrasonic irradiation (US). SDZ could be efficiently degraded by 85.61 % in the system of PS/SBBO/US with a pseudo-first-order rate constant of 0.0520 min, which is faster than that in the systems of PS/SBBO (0.0210 min), SBBO/US (0.0041 min), PS/US (0.0074 min), and PS/BaTiO/US (0.0120 min). The excellent degradation performance of the PS/SBBO/US system is mainly attributed to the piezoelectric effect of the SBBO which plays an important role in PS activation and accelerating reaction. Two oxidation processes, radical process (•O and •SO) and non-radical process (O and electron transfer), exist during the SDZ degradation. The system of PS/SBBO/US also attains excellent removal efficiency in different SDZ contained water bodies. The possible degradation pathways mainly include cleavage of bonds, ring-opening, and hydroxylation process, and the toxicity of intermediates was predicted by T.E.S.T. software. This study provides new insight into piezoelectric catalysis associated with PS activation for SDZ removal.
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http://dx.doi.org/10.1016/j.jhazmat.2022.129359DOI Listing
September 2022

Inhibition of S-adenosylhomocysteine hydrolase induces endothelial senescence via hTERT downregulation.

Atherosclerosis 2022 07 6;353:1-10. Epub 2022 Jun 6.

Department of Nutrition, School of Public Health, Sun Yat-Sen University, Guangzhou, People's Republic of China; Guangdong Provincial Key Laboratory of Food, Nutrition and Health, Guangzhou, People's Republic of China. Electronic address:

Background And Aims: It has been established that endothelial senescence plays a critical role in the development of atherosclerosis. Elevated S-adenosylhomocysteine (SAH) level induced by inhibition of S-adenosylhomocysteine hydrolase (SAHH) is one of the risk factors of atherosclerosis; however, the interplay between endothelial senescence and inhibition of SAHH is largely unknown.

Methods: Human umbilical vein endothelial cells (HUVECs) after serial passage were used. SAHH-specific inhibitor adenosine dialdehyde (ADA) and SAHH siRNA treated HUVECs and SAHHmice were used to investigate the effect of SAHH inhibition on endothelial senescence.

Results: HUVECs exhibited distinct senescence morphology as HUVECs were passaged, together with a decrease in intracellular SAHH expression and an increase in intracellular SAH levels. SAHH inhibition by ADA or SAHH siRNA elevated SA β-gal activity, arrested proliferation, and increased the expression of p16, p21 and p53 in HUVECs and the aortas of mice. In addition, decreased expression of hTERT and reduced occupancy of H3K4me3 over the hTERT promoter region were observed following SAHH inhibition treatment. To further verify the role of hTERT in the endothelial senescence induced by SAHH inhibition, hTERT was overexpressed with a plasmid vector under CMV promoter. hTERT overexpression rescued the senescence phenotypes in endothelial cells induced by SAHH inhibition.

Conclusions: SAHH inhibition induces endothelial senescence via downregulation of hTERT expression, which is associated with attenuated histone methylation over the hTERT promoter region.
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http://dx.doi.org/10.1016/j.atherosclerosis.2022.06.002DOI Listing
July 2022

Comparative Analysis of Italian Lettuce ( L. var. ) Transcriptome Profiles Reveals the Molecular Mechanism on Exogenous Melatonin Preventing Cadmium Toxicity.

Genes (Basel) 2022 May 26;13(6). Epub 2022 May 26.

Institute of Pomology and Olericulture, Sichuan Agricultural University, Chengdu 611130, China.

Cadmium (Cd) accumulation in lettuce causes a large amount of yield loss during industry. Although many studies report that exogenous melatonin helps to alleviate the Cd stress of lettuce, the molecular mechanism for how plant tissue responds to Cd treatment is unclear. Herein, we applied both PacBio and Illumina techniques for Italian lettuce under different designed treatments of Cd and melatonin, aiming to reveal the potential molecular pathway of the response to Cd stress as well as the how the pre-application of exogenous melatonin affect this process. This result reveals that the root has the biggest expression pattern shift and is a more essential tissue to respond to both Cd and melatonin treatments than leaves. We reveal the molecular background of the Cd stress response in prospects of antioxidant and hormone signal transduction pathways, and we found that their functions are diverged and specifically expressed in tissues. We also found that candidate genes related to melatonin detoxify during Cd stress. Our study sheds new light for future research on how melatonin improves the cadmium resistance of lettuce and also provide valuable data for lettuce breeding.
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http://dx.doi.org/10.3390/genes13060955DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9223142PMC
May 2022

Mercury emission characteristics and mechanism in the raw mill system of cement clinker production.

J Hazard Mater 2022 05 4;430:128403. Epub 2022 Feb 4.

State Key Joint Laboratory of Environment Simulation and Pollution Control, School of Environment, Tsinghua University, Beijing 100084, China; State Environmental Protection Key Laboratory of Sources and Control of Air Pollution Complex, Beijing 100084, China.

Mercury pollution has attracted worldwide attention due to its toxicity, bioaccumulation and persistence. Cement clinker production is the top emitter of atmospheric mercury in China and the emissions from raw mill systems account for about 85% of all emissions. However, the mercury emission characteristics and mechanisms as a function of time during an operation cycle are still unclear. This study aims to reveal the mercury emission characteristics and mechanisms in cement plants by comprehensively using offline and online field measurements, control experiments and heat transfer analysis. Research results indicated that an intermediate temperature (300-500 °C) desorption and the heterogeneous oxidation of mercury in the precalciner, the selective adsorption of oxidized gaseous mercury (Hg) to raw meal, and Hg re-vaporization in the conditioning tower jointly caused an increase in the Hg ratio (15.3%-83.6%) during the mill-off mode. In addition, mercury concentrations remained at approximately 6.5 μg/Nm during the mill-on mode while the values reached a peak of 1835.4 μg/Nm during the mill-off mode. Thus, atmospheric mercury emissions during the mill-off mode accounted for 35.0%- 71.7% of the emissions during the entire cycle, although the mill-off period only lasted for 5%- 17% of the whole cycle. Our results therefore suggest that supervisory monitoring of mercury in cement clinker production should specify the operating status of raw mills. Mercury control technologies targeting a relatively short period for the mill-off mode can substantially reduce mercury emissions from cement clinker production, and thus, the related impacts on ecosystems and human health.
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http://dx.doi.org/10.1016/j.jhazmat.2022.128403DOI Listing
May 2022

Combinatorial Biosynthesis of Terpenoids through Mixing-and-Matching Sesquiterpene Cyclase and Cytochrome P450 Pairs.

Org Lett 2022 07 23;24(26):4783-4787. Epub 2022 Jun 23.

State Key Laboratory of Microbial Metabolism, School of Life Sciences and Biotechnology, Shanghai Jiao Tong University, Shanghai 200240, China.

Terpenoids are an important class of natural products with diverse structures and bioactivities. Their hydrocarbon scaffolds are mainly derived from the terpenes produced by terpene cyclases (TCs). Otherwise, new hydrocarbon scaffolds can be achieved through oxidative rearrangement catalyzed by oxygenases such as P450s. Herein, we report the functional characterization of α/β--bergamotene-producing TCs and their multifunctional P450 partners mined from different fungal species. In addition, novel sesquiterpenoids with hydrocarbon scaffolds different from bergamotenes were generated by combinatorial biosynthesis through mixing-and-matching these TC and P450 pairs. Our results provide a successful example of expanding the chemical diversity of terpenoids by combining genome mining and synthetic biology.
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http://dx.doi.org/10.1021/acs.orglett.2c01785DOI Listing
July 2022

Acanthocytes Identified in Huntington's Disease.

Front Neurosci 2022 6;16:913401. Epub 2022 Jun 6.

Innovation Center for Neurological Disorders, Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.

Background: Neuroacanthocytosis (NA) and Huntington's disease (HD) are neurodegenerative conditions that share clinical symptoms and imaging findings, despite their distinct genetic etiologies. Usually, the presence of acanthocytes can help narrow the differential diagnosis of a familial choreiform disorder, as the diagnosis of NA syndrome is supported by the presence of acanthocytes in peripheral blood. In this study, we demonstrate four patients who present with HD and acanthocytosis.

Methods: We retrieved the data of 40 HD patients with fresh peripheral blood screened for erythrocytes in our hospital from 2014 to 2022. Of these 40 patients, four patients with acanthocytes were recruited for this study. Patients' investigations included clinical and laboratory studies, gene sequencing, and whole-exome sequencing. Fresh peripheral blood was screened for erythrocytes by scanning electron microscopy.

Results: The four adult patients were Han Chinese and unrelated. The age ranged from 45 to 61 years, with a disease duration of 4-10 years. The main neurological features at diagnosis included progressive involuntary movements, psychiatric changes, and dementia. Genetic analysis showed an expansion at the gene. The mean proportion of acanthocytes was mild (6-10%) elevated in patient one and high (>20%) elevated in patients 2-4 by scanning electron microscopy examination.

Conclusion: Our study illustrates that HD can combine with acanthocytosis, which may expand the clinical phenotype. Even though the primary gene defect appears to be predominately directed at the brain, a peripheral defect can be seen in HD. Our study highlights the complexity and diversity of HD.
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http://dx.doi.org/10.3389/fnins.2022.913401DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9208653PMC
June 2022
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