Publications by authors named "Yu Qiu"

362 Publications

Enhanced remediation of surface-bound hexavalent chromium in soils using the acidic and alkaline fronts of electrokinetic technology.

Chemosphere 2022 Aug 3;307(Pt 2):135905. Epub 2022 Aug 3.

State Key Laboratory of Coal Mine Disaster Dynamics and Control, Chongqing University, Chongqing 400044, China; College of Resource and Safety Engineering, Chongqing University, Chongqing, 400044, China. Electronic address:

In the subsurface environment, highly toxic hexavalent chromium (Cr(VI)) control and remediation are essential to avoid further ecological impacts and reduce environmental risks. This paper investigated the enhanced Cr(VI) electrokinetic removal in the soil through the approaching cathode method. Besides, a novel four-step sequential fractionation method was used to reflect the strength of Cr(VI) binding to the soil. The approaching cathode enhanced the electrokinetic delivery of surface-bound Cr(VI) by advancing the alkaline front for Cr(VI) desorption and improving the electric potential flattening of the soil layers. Desorption of Cr(VI) by the alkaline front involved converting the inner-sphere complexes form of Cr(VI) to a weakly adsorbed form susceptible to ionic strength. In addition, the acidic front provided a favorable environment for the photochemical reduction of Cr(VI) by soil species or the added citrate as the electron donors. Improving the potential distribution could regulate the energy consumption of individual soil layers and efficiently operate the electrokinetic transfer of pollutants. The work results have significant scientific and practical significance for applying the in-situ electrokinetic technique in subsurface pollution control.
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http://dx.doi.org/10.1016/j.chemosphere.2022.135905DOI Listing
August 2022

Association Between Type of Infertility and Live Birth in Couples With a Single Intrauterine Insemination Resulting in Pregnancy: A Propensity Score Matching Cohort Study.

Front Endocrinol (Lausanne) 2022 14;13:926183. Epub 2022 Jul 14.

Reproductive Medicine Center, Ji'an Women and Child Health care Hospital, Jiangxi, China.

Background: Few studies have described the relationship between the type of infertility and live birth in patients treated with intrauterine insemination (IUI). We focused on this issue and attempted to explore it.

Methods: This retrospective study enrolled 2,256 infertile patients who underwent their first IUI cycle and were subsequently diagnosed with a clinical pregnancy at Ji'an Women and Child Health Care Hospital between 2007 and 2018. Inductees were divided into primary infertility (1,680 patients) and secondary infertility groups (876 patients). Following 1:1 propensity score matching to obtain balanced data, the COX proportional hazards model, landmark analysis, and subgroup analysis were used to assess the association between infertility types and live birth rates. Subsequently, a sensitivity analysis was employed to evaluate the potential effect of unmeasured confounding on outcomes.

Results: Of the 1,486 patients who were identified as a matched cohort, 743 were in the primary infertility group and the remaining patients were in another group. A total of 1,143 patients had live births during 431,009 person-days of follow-up (average 290.0 days). Throughout the follow-up period, patients with secondary infertility demonstrated more live births than patients with primary infertility (hazard ratio [HR], 1.16; 95% confidence interval [CI], 1.04 to 1.30; = .007). More details were observed in the landmark analysis. Live birth rates were similar in both groups within 316 days of follow-up (HR, 0.84; 95% CI, 0.62 to 1.14; = .269), whereas the opposite was found between 316 days of follow-up and delivery day (HR, 1.19; 95% CI, 1.06 to 1.34; 004). This was also obtained in a subgroup analysis of patients younger than 35 years old and patients treated with natural cycles (NCs) and IUIs.

Conclusion: Among the infertile patients who underwent a single natural or stimulated cycle followed by IUI and had later pregnancies, full-term young secondary infertility mothers (<35 years of age) had a greater chance of having viable babies than the primary infertility ones. The latter may get more benefits when undergoing ovarian stimulation and IUI rather than NC-IUI.
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http://dx.doi.org/10.3389/fendo.2022.926183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9329630PMC
August 2022

Oolong Tea Consumption and the Risk of Oral Squamous Cell Carcinoma: A Propensity Score-Based Analysis in Southeast China.

Front Nutr 2022 7;9:928840. Epub 2022 Jul 7.

Department of Epidemiology and Health Statistics, School of Public Health, Fujian Medical University, Fuzhou, China.

Oolong tea is one of the world's most popular non-alcoholic beverages, particularly in coastal Southeast China. Hitherto, epidemiological studies on the association between oolong tea consumption and the risk of patients with oral squamous cell carcinoma (OSCC) are very limited. This study aimed to evaluate the potential effect of oolong tea consumption on OSCC risk in Southeast China. From January 2010 to October 2020, face-to-face interviews were conducted for 744 newly diagnosed OSCC patients and 1,029 healthy controls to collect information on demographics, oolong tea consumption behaviors, and other lifestyle factors. Propensity score matching (PSM), inverse probability of treatment weight (IPTW), and stabilized inverse probability of treatment weight (SIPTW) were utilized to minimize confounding effects. Multivariate, conditional, and weighted logistic regression was used to evaluate the associations of oolong tea consumption behaviors with OSCC risk. Participants who drank oolong tea showed a lower risk of OSCC when compared to their non-drink counterparts [PSM population, OR (95%CI): 0.69 (0.49-0.97); SIPTW population, OR (95%CI): 0.74 (0.58-0.94)]. Moreover, the reduced risk was found to be significantly associated with certain tea-drinking habits (consumed amount over 500 mL per day, a duration of <20 years, age at initiation older than 30 years, and warm and moderately concentrated tea). Similar results were yielded in the sensitivity analyses (Multivariate adjustment and the IPTW analysis). Furthermore, subgroup analysis revealed that the negative association of oolong tea drinking with OSCC risk was more evident among those with poor oral hygiene. This study provides supportive evidence that oolong tea consumption may have a potentially beneficial effect in preventing OSCC, especially for those with poor oral hygiene.
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http://dx.doi.org/10.3389/fnut.2022.928840DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9301196PMC
July 2022

Combined Exposure to 33 Trace Elements and Associations With the Risk of Oral Cancer: A Large-Scale Case-Control Study.

Front Nutr 2022 7;9:913357. Epub 2022 Jul 7.

Department of Epidemiology and Health Statistics, Fujian Provincial Key Laboratory of Environment Factors and Cancer, School of Public Health, Fujian Medical University, Fuzhou, China.

Background: Trace elements exist widely in the natural environment and mostly enter the human body through drinking water or various types of food, which has raised increasing health concerns. Exposure to a single or a few trace elements has been previously reported to be associated with oral cancer risk, but studies on other elements and combined effects are limited. This study aimed to comprehensively evaluate the independent and joint effects of 33 trace elements on oral cancer risk.

Methods: The concentrations of 33 trace elements from the serum samples of 463 cases and 1,343 controls were measured using inductively coupled plasma mass spectrometry (ICP-MS). Propensity score matching was used to minimize the impact of potential confounders. Conditional logistic regression was utilized to evaluate the association of each element individually with oral cancer risk. Quantile g-computation and Bayesian kernel machine regression (BKMR) models were used to assess the joint effect of the overall element mixture and interactions.

Results: In single-element models, essential elements (Cu, Se, Zn, Sr, and Cr) and non-essential elements (As, Li, Th, Ce, Ti, and Sc) showed significant association with oral cancer risk. In multiple-element models, a quartile increase in overall non-essential elements was observed for a significant inverse association with oral cancer risk (β = -3.36, 95% CI: -4.22 to -2.51). The BKMR analysis revealed a potential beneficial joint effect of essential metals on the risk of oral cancer. Among these, higher levels of serum Zn and V exhibited an adverse effect, while serum Sr, Se, and Cu displayed favorable effects when all other essential elements were fixed at 25th or 50th percentiles. Of note, Se performed complex interactions among essential metals. As for non-essential elements, there were greater effect estimates for serum Th, Li, and Y when all other elements were held at the 75th percentile.

Conclusion: This study provides supportive evidence that the overall mixture effect of essential and non-essential elements might be associated with oral cancer risk, especially for serum Zn, V, Cu, Sr, Se, Th, Li, and Y. Extensive prospective studies and other experiments are warranted to confirm our findings.
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http://dx.doi.org/10.3389/fnut.2022.913357DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9301066PMC
July 2022

miR-126-3p-loaded small extracellular vesicles secreted by urine-derived stem cells released from a phototriggered imine crosslink hydrogel could enhance vaginal epithelization after vaginoplasty.

Stem Cell Res Ther 2022 07 23;13(1):331. Epub 2022 Jul 23.

Institute of Microsurgery On Extremities, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, 200233, China.

Background: Due to the large area and deep width of the artificial neovagina after vaginoplasty, it takes a considerable amount of time to achieve complete epithelization of the neovagina. Currently, the clinical therapies for vaginal epithelization after vaginoplasty are still dissatisfactory. Recent studies showed that small extracellular vesicles (sEVs) derived from stem cells could accelerate wound epithelization. The sustained release of sEVs from optimized hydrogels may be a promising strategy to accelerate vaginal epithelization after vaginoplasty.

Methods: The efficacy of phototriggered imine crosslink hydrogels (piGEL) containing sEVs derived from human urine-derived stem cells (hUSC-sEVs, piGEL-sEVs) on vaginal mucosa defects in rabbits was assessed by wound closure rates, histological analysis and immunofluorescence staining analysis. Cell counting kit-8, 5-ethynyl-2'-deoxyuridine and scratch wound assays were performed to assess the effects of hUSC-sEVs on the proliferation and migration ability of vaginal epithelial cells (VK2/E6E7). Quantitative real-time polymerase chain reaction (qRT-PCR) was carried out to test the expression of epithelial differentiation markers in VK2 cells. Moreover, a microRNA (miRNA) microarray was used to find hUSC-sEVs-specific miRNAs that potentially affected the proliferation, migration and differentiation ability of VK2 cells.

Results: The in vitro release profile revealed that the piGEL could ensure sustained release of hUSC-sEVs. The in vivo results showed that piGEL-sEVs effectively promoted epithelization and angiogenesis of vaginal mucosa defects in rabbits. According to miRNA microarray and qRT-PCR results, miR-126-3p might be the crucial molecule among the various miRNAs contained in hUSC-sEVs. The data showed that hUSC-sEVs promoted the migration and differentiation of VK2 cells by delivering miR-126-3p to suppress the expression of Spred1 and PIK3R2, thereby activating the ERK1/2 and ATK signaling pathways.

Conclusion: The results indicated that piGEL-sEVs could be a novel promising approach for enhancing the epithelization of the neovagina after vaginoplasty and provided useful data for understanding the underlying mechanism of the effect of hUSC-sEVs on epithelization.
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http://dx.doi.org/10.1186/s13287-022-03003-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9308191PMC
July 2022

Antiretroviral therapy initiation within 7 days and 8 days-30 days post-HIV diagnosis demonstrates similar benefits in resource-limited settings.

AIDS 2022 Jul 11. Epub 2022 Jul 11.

NHC Key Laboratory of AIDS Immunology (China Medical University), National Clinical Research Center for Laboratory Medicine, The First Affiliated Hospital of China Medical University.

We estimated the optimum time to initiate antiretroviral therapy (ART) in a retrospective observational cohort. We observed that ART initiation 7 days or less (n = 817) and 8-30 days (n = 1009) were the most important factors with viral suppression, and had similar viral suppression rate, CD4+ T-cell count increase and fractions of individuals with links at least 4 and individuals linked to recent HIV infection in HIV molecular networks. This study provides real-world evidence on the benefits of rapid ART initiation in resource-limited setting.
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http://dx.doi.org/10.1097/QAD.0000000000003327DOI Listing
July 2022

A Novel Multifunctional 5,6-Dimethoxy-Indanone-Chalcone-Carbamate Hybrids Alleviates Cognitive Decline in Alzheimer's Disease by Dual Inhibition of Acetylcholinesterase and Inflammation.

Front Aging Neurosci 2022 4;14:922650. Epub 2022 Jul 4.

Key Laboratory of Basic Pharmacology of Ministry of Education, Joint International Research Laboratory of Ethnomedicine of Ministry of Education, Zunyi Medical University, Zunyi, China.

Backgrounds: Alzheimer's disease (AD) is a multifactorial neurodegenerative disease. The treatment of AD through multiple pathological targets may generate therapeutic efficacy better. The multifunctional molecules that simultaneously hit several pathological targets have been of great interest in the intervention of AD.

Methods: Here, we combined the chalcone scaffold with carbamate moiety and 5,6-dimethoxy-indanone moiety to generate a novel multi-target-directed ligand (MTDL) molecule -3-((5,6-dimethoxy-1-oxo-1,3-dihydro-2H-inden-2-ylidene)-methyl)phenylethyl(methyl) carbamate (named AP5). approaches were used to virtually predict the binding interaction of AP5 with AChE, the drug-likeness, and BBB penetrance, and later validated by evaluation of pharmacokinetics (PK) by LC-MS/MS. Moreover, studies were conducted to examine the potential of AP5 for inhibiting AChE and AChE-induced amyloid-β (Aβ) aggregation, attenuating neuroinflammation, and providing neuroprotection in the APP/PS1 model of AD.

Results: We found that AP5 can simultaneously bind to the peripheral and catalytic sites of AChE by molecular docking. AP5 exhibited desirable pharmacokinetic (PK) characteristics including oral bioavailability (67.2%), >10% brain penetrance, and favorable drug-likeness. AP5 inhibited AChE activity and AChE-induced Aβ aggregation and . Further, AP5 lowered Aβ plaque deposition and insoluble Aβ levels in APP/PS1 mice. Moreover, AP5 exerted anti-inflammatory responses by switching microglia to a disease-associated microglia (DAM) phenotype and preventing A1 astrocytes formation. The phagocytic activity of microglial cells to Aβ was recovered upon AP5 treatment. Importantly, chronic AP5 treatment significantly prevented neuronal and synaptic damage and memory deficits in AD mice.

Conclusion: Together, our work demonstrated that AP5 inhibited the AChE activity, decreased Aβ plaque deposition by interfering Aβ aggregation and promoting microglial Aβ phagocytosis, and suppressed inflammation, thereby rescuing neuronal and synaptic damage and relieving cognitive decline. Thus, AP5 can be a new promising candidate for the treatment of AD.
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http://dx.doi.org/10.3389/fnagi.2022.922650DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9289467PMC
July 2022

Detection of ochratoxin A by fluorescence sensing based on mesoporous materials.

Biosci Biotechnol Biochem 2022 Jul 9. Epub 2022 Jul 9.

Tianjin Key Laboratory of Risk Assessment and Control Technology for Environment and Food Safety, Tianjin Institute of Environmental and Operational Medicine, Tianjin, China.

We developed a new ochratoxin A (OTA) aptamer biosensor to promptly detect OTA in food. Mesoporous silica nanoparticles (MSN) were used as carriers, and aptamers were used as recognition probes and gating molecules. The fluorescent dye Rhodamine 6G (Rh6G) was loaded into mesoporous silica, and through electrostatic contact, the OTA aptamer was adsorbed on amino-modified mesoporous silica. The fluorescent dye released from the mesopore in the presence of OTA because of the conformational change induced in the aptamer by the target. The amount of ochratoxin was determined by measuring the fluorescence intensity. Our findings revealed a positive relationship between the fluorescence intensity and OTA concentration, with a limit of detection of 0.28 ng mL-1, and the detection range was 0.05-200 ng mL-1. The recovery rate was 80.7%-110.8% in real samples. The proposed approach is suitable for the quantification of other toxins.
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http://dx.doi.org/10.1093/bbb/zbac112DOI Listing
July 2022

Exome sequencing contributes to identify comorbidities in a rare case of infant ARDS induced by the CD40LG mutation.

BMC Med Genomics 2022 07 8;15(1):153. Epub 2022 Jul 8.

Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE, Department of Pediatrics, West China Second University Hospital, Sichuan University, No. 20, 3rd Section, South Renmin Road, Chengdu, 610041, Sichuan, China.

Background: Acute respiratory distress syndrome (ARDS) causes significant mortality in young children with certain diseases. Early diagnosis and treatment can reduce infant mortality. Here, we report a rare case of exome sequencing in the early diagnosis of immunodeficiency in an infant.

Case Presentation: A four-month-old full-term male infant presented with severe shortness of breath, hypoxemia, and unexplained parenchymal lung lesions. A series of examinations were performed to search for potential culprit viruses but negative results were obtained with the only exception being the rhinovirus that tested positive. The child's family history revealed he had a brother who died of severe infection at the age of two years. We performed an exome sequencing analysis and a mutation analysis of CD40LG to obtain genetic data on the patient. Besides, we used flow cytometry to measure the CD40LG expression levels of activated T cells. A retrospective review of all the CD40LG mutant-induced X-linked hyper IgM syndromes (XHIGM) had been conducted to assess the differences between clinical and genetic molecular features. Finally, a regular intravenous immunoglobulin (IVIG) regimen led to steady breathing, the correction of hypoxemia, and a progressive improvement of lung CT scans. During follow-up, the patient received an IVIG regimen and his CT images improved. Moreover, his parents took advantage of pre-implantation genetic testing with in vitro fertilization to have a healthy twin offspring who did not carry such a mutation according to the early exome sequencing for the proband. Compared with other CD40LG mutant cases in our center, this proband displayed a normal plasma immunoglobulin level and he should be the youngest infant to have a molecular diagnosis of XHIGM.

Conclusion: Usually, XHIGM would not be suspected with a normal plasma immunoglobulin concentration. However, as we could not identify a potential comorbidity or risk factor, exome sequencing helps target this patient's real facts. Thus, this case report calls for exome sequencing to be performed in the case of unexplained infections when immunodeficiency is suspected after general immunological tests, especially for cases with a contributive family history among infants as the maternal transfused immunoglobulin might mask immune deficiency.
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http://dx.doi.org/10.1186/s12920-022-01303-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9264746PMC
July 2022

Near-perfect spectrally-selective metasurface solar absorber based on tungsten octagonal prism array.

RSC Adv 2022 Jun 7;12(26):16823-16834. Epub 2022 Jun 7.

School of Energy Science and Engineering, Central South University Changsha Hunan 410083 China

Solar selective absorbers influence the photothermal efficiency of high-temperature solar thermal applications directly and significantly. In present work, a metasurface absorber consisting of an octagonal prism array is proposed, optimized and analyzed. Firstly, the structure parameters of the absorber are optimized, finding the optimal absorber achieves near-perfect spectrally-selectivity compared with the perfect solar absorber. The high solar absorptivity of 0.9591, low emissivity of 0.1594-0.3694, and high photothermal efficiency of 94.72-83.10% are achieved at 1073-1573 K and 1000 suns. Then, the mechanisms leading to the excellent spectral selectivity are investigated, suggesting that the coupling effects of multi-plasmon resonance modes and the impedance matching lead to the high solar absorptivity. Meanwhile, the impedance mismatching is the mechanism to minimize the emissivity in the mid-IR region. Moreover, whether the spectral absorptivity can be changed by structural parameters is investigated, suggesting that the excircle diameter of the first tungsten octagonal prism and the height of SiO under the octagonal prism can influence the spectral absorptivity obviously. Finally, the metasurface absorber is demonstrated to be highly insensitive to both polarization and incident angles. These results suggest that the proposed metasurface absorber should be suitable for high-temperature solar thermal devices.
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http://dx.doi.org/10.1039/d2ra02802fDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9172566PMC
June 2022

Association Between Dietary Fatty Acid Pattern and Risk of Oral Cancer.

Front Nutr 2022 16;9:864098. Epub 2022 May 16.

Fujian Provincial Key Laboratory of Environment Factors and Cancer, Department of Epidemiology and Health Statistics, School of Public Health, Fujian Medical University, Fuzhou, China.

Objective: To investigate the association between dietary fatty acid (FA) patterns and the risk of oral cancer.

Method: A case-control study which included 446 patients with oral cancer and 448 controls subjects was conducted in Southeast China. A structured food frequency questionnaire was used to assess the dietary FA consumption before cancer diagnosis. FA patterns were identified using the principal component analysis, and the relationship between the dietary FA patterns and oral cancer was analyzed by logistic regression.

Results: General differences in FA intake were observed between the patient and control groups. The intakes of saturated FAs (SFAs) C14:0, C16:0, C18:0, and monounsaturated FA C18:1 were higher in the patient group than the control group ( < 0.001). Four FA patterns were derived by principal component analysis. The "SFA" pattern, "Polyunsaturated FA" pattern, "Monounsaturated FA" pattern, and "Medium- and long-chain FA" pattern, which could explain 75.7% of the variance of the dietary FA intake, were submitted to logistic regression analysis. A positive association was observed between the "SFA" pattern and oral cancer risk. Compared with the lowest quartile score, the of the highest quartile score was 3.71 (95%: 2.31, 5.94, < 0.001) in the multivariate logistic regression model. No significant association was found among the other three patterns and oral cancer risk.

Conclusions: General differences in dietary FA intake were observed between patients with oral cancer and controls. A positive association between the "SFA" pattern and risk of oral cancer was observed after adjusting for potential confounders.
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http://dx.doi.org/10.3389/fnut.2022.864098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9149618PMC
May 2022

Multifunctional Anti-Alzheimer's Disease Effects of Natural Xanthone Derivatives: A Primary Structure-Activity Evaluation.

Front Chem 2022 11;10:842208. Epub 2022 May 11.

Academy of Integrative Medicine, Shanghai University of Traditional Chinese Medicine, Shanghai, China.

A series of α-Mangostin (α-M) derivatives were designed and synthesized. α-M and four analogues were evaluated for their multifunctional anti-Alzheimer's disease (anti-AD) effects on fibrillogenesis, microglial uptake, microglial degradation, and anti-neurotoxicity of Aβ, as well as LPS-induced neuroinflammation. The differences in bioactivities were analyzed to understand the structure-activity relationship for further modifications. This study aims to investigate the anti-AD effects of α-M and elucidate its structure-activity relationship by comparing difference between α-M and several analogues. Aβ fibrillogenesis was detected by Thioflavin T fluorometric assay. The levels of Aβ and inflammatory cytokines were evaluated by enzyme-linked immunosorbent assay. Neuron viability was examined by the CCK-8 assay. The morphology of ZO-1 of bEnd.3 cultured in BV-2-conditioned medium was evaluated by immunofluorescence staining. Aβ fibrillogenesis was significantly inhibited by co-incubation with α-M, Zcbd- or Zcbd-. α-M, Zcbd-, Zcbd- and Zcbd- decreased the levels of Aβ and inflammatory cytokines, and promoted Aβ uptake, degradation and anti-inflammation effects inflammation in microglia. α-M and Zcbd- protected neuron viability from Aβ-induced neurotoxicity, and preserved tight junction integrity of bEnd.3 against LPS-induced neuroinflammation. Zcbd- acted as α-M almost in all effects. The structure-activity analysis indicated that the 3-methyl-2-butenyl group at C-8 is essential for the bioactivity of α-M, while modifying the double hydroxylation at the C-2 position may improve the multifunctional anti-AD effects.
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http://dx.doi.org/10.3389/fchem.2022.842208DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9130743PMC
May 2022

U-Shaped Relationship of Rare Earth Element Lanthanum and Oral Cancer Risk: A Propensity Score-Based Study in the Southeast of China.

Front Public Health 2022 12;10:905690. Epub 2022 May 12.

Laboratory Center, School of Public Health, Fujian Medical University, Fuzhou, China.

As an important rare earth element (REE) extensively applied to industry, agriculture, and medicine, lanthanum (La) has attracted a host of health concerns. This study aimed to explore the relationship between La exposure and the risk of developing oral cancer through a case-control study with a large sample size. Serum La levels of 430 oral cancer patients and 1,118 healthy controls were detected by inductively coupled plasma mass spectrometry (ICP-MS). The association of La level with the risk of oral cancer was assessed in two ways: (1) as a continuous scale based on restricted cubic splines (RCS); (2) as a priori defined centile categories using multivariate logistic regression model, based on propensity score matching (PSM) and inverse probability of treatment weighting (IPTW). The RCS revealed a non-linear U-shaped relationship between serum La and oral cancer risk. Serum La deficiency or excess was associated with an increased risk of oral cancer. When the La level was analyzed as a categorical variable, a similar U-shaped association was observed. Of note, compared to those with La concentrations of 0.243-0.341 μg/L (reference quantiles, 41st-60th), the risk was increased in those with the lower or higher quantiles (0.132-0.242 μg/L vs. 0.243-0.341 μg/L: OR = 1.80, 95%CI: 1.07-3.02; 0.342-0.497 μg/L vs. 0.243-0.341 μg/L: OR = 2.30, 95%CI: 1.38-3.84). The results were generally consistent with the PSM and IPTW analyses. This preliminary study provides strong evidence that there was a U-shaped relationship between serum La levels and oral cancer risk. Much additional work is warranted to confirm our findings.
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http://dx.doi.org/10.3389/fpubh.2022.905690DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9133527PMC
June 2022

Relationship Between Dietary Fiber and Vitamin C Intake and Oral Cancer.

Front Public Health 2022 12;10:880506. Epub 2022 May 12.

Department of Epidemiology and Health Statistics, Fujian Provincial Key Laboratory of Environment Factors and Cancer, School of Public Health, Fujian Medical University, Fuzhou, China.

Background: Dietary fiber and vitamin C has been reported to play a possible role in tumorigenesis. However, few studies have estimated their association with oral cancer risk. In this project, we investigated the relationship between dietary fiber and vitamin C and oral cancer risk in adults in Southern China.

Methods: 382 patients newly diagnosed with oral cancer were matched to 382 hospital derived controls by frequency matching in age and sex. Pre-diagnostic consumption of dietary fiber and vitamin C intake were measured through food frequency questionnaire. Association between nutrients intake and oral cancer risk were evaluated by logistic regression. OR value and 95% confidence interval was calculated.

Results: Intake of dietary fiber and vitamin C was significantly lower in oral cancer patients (8.15 g/day) than in control participants (8.88 g/day). Increased dietary fiber or vitamin C intake was linked to a decreased incidence of OC after adjustment of age, marital status, residence, BMI, occupation, education, tobacco smoking, alcohol consumption and family history of cancer < 0.001). Compared with the lowest tertile, the adjusted OR of the top tertile of dietary fiber was 0.47 (95 % CI 0.32, 0.68). While the adjusted OR of the highest tertile was 0.60 (95 % CI 0.42, 0.87) compared with the lowest tertile of vitamin C.

Conclusions: Dietary intake of fiber and vitamin C were lower in oral cancer patients than in control participants. Dietary fiber and vitamin C were inversely related to risk of oral cancer risk.
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http://dx.doi.org/10.3389/fpubh.2022.880506DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9133876PMC
May 2022

Comparative miRNA transcriptomics of macaques and mice reveals is an inhibitor for invasion into the brain.

Emerg Microbes Infect 2022 Dec;11(1):1572-1585

NHC Key Laboratory of AIDS Immunology, National Clinical Research Center for Laboratory Medicine, The First Affiliated Hospital of China Medical University, Shenyang, People's Republic of China.

Cryptococcal meningoencephalitis (CM) is emerging as an infection in HIV/AIDS patients shifted from primarily ART-naive to ART-experienced individuals, as well as patients with COVID-19 and immunocompetent hosts. This fungal infection is mainly caused by the opportunistic human pathogen . Brain or central nervous system (CNS) dissemination is the deadliest process for this disease; however, mechanisms underlying this process have yet to be elucidated. Moreover, illustrations of clinically relevant responses in cryptococcosis are currently limited due to the low availability of clinical samples. In this study, to explore the clinically relevant responses during infection, macaque and mouse infection models were employed and miRNA-mRNA transcriptomes were performed and combined, which revealed cytoskeleton, a major feature of HIV/AIDS patients, was a centric pathway regulated in both infection models. Notably, assays of clinical immune cells confirmed an enhanced macrophage "Trojan Horse" in patients with HIV/AIDS, which could be shut down by cytoskeleton inhibitors. Furthermore, myocilin, encoded by , was found to be a novel enhancer for the macrophage "Trojan Horse," and an enhanced fungal burden was achieved in the brains of -transgenic mice. Taken together, the findings from this study reveal fundamental roles of the cytoskeleton and in fungal CNS dissemination, which not only helps to understand the high prevalence of CM in HIV/AIDS but also facilitates the development of novel therapeutics for meningoencephalitis caused by and other pathogenic microorganisms.
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http://dx.doi.org/10.1080/22221751.2022.2081619DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9176638PMC
December 2022

FAM64A promotes HNSCC tumorigenesis by mediating transcriptional autoregulation of FOXM1.

Int J Oral Sci 2022 05 10;14(1):25. Epub 2022 May 10.

Stomatological Hospital, Southern Medical University, Guangzhou, China.

Head and neck squamous cell carcinoma (HNSCC) still lacks effective targeted treatment. Therefore, exploring novel and robust molecular targets is critical for improving the clinical outcome of HNSCC. Here, we reported that the expression levels of family with sequence similarity 64, member A (FAM64A) were significantly higher in HNSCC tissues and cell lines. In addition, FAM64A overexpression was found to be strongly associated with an unfavorable prognosis of HNSCC. Both in vitro and in vivo evidence showed that FAM64A depletion suppressed the malignant activities of HNSCC cells, and vice versa. Moreover, we found that the FAM64A level was progressively increased from normal to dysplastic to cancerous tissues in a carcinogenic 4-nitroquinoline-1-oxide mouse model. Mechanistically, a physical interaction was found between FAM64A and forkhead box protein M1 (FOXM1) in HNSCC cells. FAM64A promoted HNSCC tumorigenesis not only by enhancing the transcriptional activity of FOXM1, but also, more importantly, by modulating FOXM1 expression via the autoregulation loop. Furthermore, a positive correlation between FAM64A and FOXM1 was found in multiple independent cohorts. Taken together, our findings reveal a previously unknown mechanism behind the activation of FOXM1 in HNSCC, and FAM64A might be a promising molecular therapeutic target for treating HNSCC.
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http://dx.doi.org/10.1038/s41368-022-00174-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9091245PMC
May 2022

Nickel-Cobalt Hydrogen Phosphate on Nickel Nitride Supported on Nickel Foam for Alkaline Seawater Electrolysis.

ACS Appl Mater Interfaces 2022 May 10;14(19):22061-22070. Epub 2022 May 10.

College of Chemistry and Chemical Engineering, Qingdao University, Qingdao 266071, Shandong, P. R. China.

Developing high-performance non-noble bifunctional catalysts is pivotal for large-scale seawater electrolysis but remains a challenge. Here we report a sandwichlike NiCo(HPO)@NiN/NF (denoted by [email protected]/NF) catalyst. Vertical NiN nanosheet arrays are first grown and supported on nickel foam, and then a bimetallic NiCoHPi coating is decorated on NiN nanosheets by one-step electrodeposition. The hierarchical sandwich like structure offers a large surface area and plenty of catalytic active sites, and the coupling of interconnected NiN and NiCoHPi accelerates the electron transfer. Moreover, the surficial hydrogen phosphate ions contribute to a proper OH absorption capacity due to the Lewis acid-base reaction. As a result, the [email protected]/NF catalyst exhibits good OER and HER activity, requiring overpotentials of 365 mV (for OER) and 174 mV (for HER) to deliver 100 mA cm in the alkaline simulated seawater electrolyte. When assembled the [email protected]/NF catalyst as both the anode and cathode, it only needs 1.86 V to reach 100 mA cm in alkaline simulated seawater electrolyte. This work may inspire the design and exploration of self-supported hierarchical composite electrocatalysts for hydrogen production from the electrolysis of seawater.
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http://dx.doi.org/10.1021/acsami.2c01643DOI Listing
May 2022

The upregulated intestinal folate transporters direct the uptake of ligand-modified nanoparticles for enhanced oral insulin delivery.

Acta Pharm Sin B 2022 Mar 30;12(3):1460-1472. Epub 2021 Jul 30.

State Key Laboratory of Drug Research, Shanghai Institute of Materia Medica, Chinese Academy of Sciences, Shanghai 201203, China.

Transporters are traditionally considered to transport small molecules rather than large-sized nanoparticles due to their small pores. In this study, we demonstrate that the upregulated intestinal transporter (PCFT), which reaches a maximum of 12.3-fold expression in the intestinal epithelial cells of diabetic rats, mediates the uptake of the folic acid-grafted nanoparticles (FNP). Specifically, the upregulated PCFT could exert its function to mediate the endocytosis of FNP and efficiently stimulate the traverse of FNP across enterocytes by the lysosome-evading pathway, Golgi-targeting pathway and basolateral exocytosis, featuring a high oral insulin bioavailability of 14.4% in the diabetic rats. Conversely, in cells with relatively low PCFT expression, the positive surface charge contributes to the cellular uptake of FNP, and FNP are mainly degraded in the lysosomes. Overall, we emphasize that the upregulated intestinal transporters could direct the uptake of ligand-modified nanoparticles by mediating the endocytosis and intracellular trafficking of ligand-modified nanoparticles the transporter-mediated pathway. This study may also theoretically provide insightful guidelines for the rational design of transporter-targeted nanoparticles to achieve efficient drug delivery in diverse diseases.
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http://dx.doi.org/10.1016/j.apsb.2021.07.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9072239PMC
March 2022

United Against Rabies Forum: The One Health Concept at Work.

Front Public Health 2022 13;10:854419. Epub 2022 Apr 13.

House of Lords, London, United Kingdom.

Human deaths from rabies are preventable and can be eliminated by applying a systematic One Health approach. However, this ancient disease still threatens the lives of millions of people in up to 150 countries and kills an estimated 59, 000 people every year. Rabies today is largely a disease of poverty, almost always linked to dog bites, with most deaths occurring in neglected communities in Africa and Asia. The disease places an immense economic burden on its victims, a cost that far outweighs the investment needed to control it. A global framework for rabies elimination in humans is set out in . Despite the existence of proven control strategies and agreement on the path to eliminating human rabies deaths, mortality numbers from rabies remain high, and COVID-19 has set back efforts even further. But COVID-19 has also highlighted the value of a One Health approach to zoonotic disease and pandemic prevention. Rabies control programs offer a practical route to building One Health capacities that can also address other zoonotic threats, including those with pandemic potential. The United Against Rabies Forum aims to accelerate progress on rabies elimination while applying a One Health approach. The Forum promotes cross-sector collaboration among stakeholders and supports countries in their rabies elimination efforts. Increased political engagement and resource mobilization, both internationally and nationally, will be needed to achieve global rabies goals and can also make One Health implementation a reality.
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http://dx.doi.org/10.3389/fpubh.2022.854419DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9043483PMC
April 2022

Hierarchical Regulation of LaMnO Dual-Pathway Strategy for Excellent Room-Temperature Organocatalytic Oxidation Performance.

Inorg Chem 2022 May 29;61(19):7459-7466. Epub 2022 Apr 29.

Key Laboratory of Modern Agriculture Equipment and Technology, School of Chemistry and Chemical Engineering, Jiangsu University, Zhenjiang 212013, PR China.

The performance-enhancing strategy of a single pathway for perovskite has been widely studied. In this work, the dual-pathway strategy of A-site Ce substitution and nitric acid selective dissolution was proposed. The catalytic oxidation performance of LaMnO exhibits the characteristic of hierarchical regulation, that is, a steplike improvement, which avoids the limitation of performance improvement of the single pathway. The B-site Mn with catalytic activity was in situ reconstituted on the surface to build a Mn-rich surface. The obtained sdLaCeMnO has the advantages of good oxygen mobility, high Mn/Mn molar ratio, and large specific surface area, and this material showed excellent catalytic oxidation performance for organics, which can realize colorimetric chemical oxygen demand detection at room temperature. Here, Ce substitution improved the oxidation capacity by improving the oxygen mobility and the ratio of Mn/Mn, and further nitric acid treatment not only accelerated the in situ reconstruction of B-site Mn but also increased the specific surface area.
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http://dx.doi.org/10.1021/acs.inorgchem.2c00521DOI Listing
May 2022

Developing a Decision-Making Model for Construction Safety Behavior Supervision: An Evolutionary Game Theory- Analysis.

Front Psychol 2022 7;13:861828. Epub 2022 Apr 7.

School of Investment and Construction Management, Dongbei University of Finance and Economics, Dalian, China.

Without the active participation of enterprises and front-line workers, it is difficult for the government to perform effective supervision to ensure behavioral safety among front-line workers. To overcome inadequate government supervision and information attenuation caused by vertical management mode and limited resources, and to change passive supervision into active control with the proactive participation of enterprises and workers, this paper combines the entity responsibility mechanism and the third-party participation mechanism based on government supervision to analyze the decision-making process of government and enterprises on safety behavior supervision. An evolutionary game model was established to describe the decision-making interactions between the government and construction enterprises under the two mechanisms, and a simulation was performed to illustrate the factors influencing the implementation of the mechanisms. The results show that both mechanisms have a positive effect on government supervision, and the third-party participation mechanism was found to be working better. The implementation of the two mechanisms is influenced by punishment, subsidy, and cost, and it has different sensitivities to the three influencing factors. This study provides a theoretical framework for enhancing the government supervision mechanism, and the decision-making between the government and construction enterprises enhances the management form and guides their actual supervision practices.
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http://dx.doi.org/10.3389/fpsyg.2022.861828DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9021837PMC
April 2022

Multienvironment QTL analysis delineates a major locus associated with homoeologous exchanges for water-use efficiency and seed yield in canola.

Plant Cell Environ 2022 07 5;45(7):2019-2036. Epub 2022 May 5.

The Key Laboratory of Biology and Genetic Improvement of Oil Crops, The Ministry of Agriculture and Rural Affairs of PRC, Oil Crops Research Institute, Chinese Academy of Agricultural Sciences, Wuhan, Hubei, China.

Canola varieties exhibit variation in drought avoidance and drought escape traits, reflecting adaptation to water-deficit environments. Our understanding of underlying genes and their interaction across environments in improving crop productivity is limited. A doubled haploid population was analysed to identify quantitative trait loci (QTL) associated with water-use efficiency (WUE) related traits. High WUE in the vegetative phase was associated with low seed yield. Based on the resequenced parental genome data, we developed sequence-capture-based markers and validated their linkage with carbon isotope discrimination (Δ C) in an F population. RNA sequencing was performed to determine the expression of candidate genes underlying Δ C QTL. QTL contributing to main and QTL × environment interaction effects for Δ C and yield were identified. One multiple-trait QTL for Δ C, days to flower, plant height, and seed yield was identified on chromosome A09. Interestingly, this QTL region overlapped with a homoeologous exchange (HE) event, suggesting its association with the multiple traits. Transcriptome analysis revealed 121 significantly differentially expressed genes underlying Δ C QTL on A09 and C09, including in HE regions. Sorting out the negative relationship between vegetative WUE and seed yield is a priority. Genetic and genomic resources and knowledge so developed could improve canola WUE and yield.
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http://dx.doi.org/10.1111/pce.14337DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9325393PMC
July 2022

Correction: Tunable deep-blue luminescence from ball-milled chlorine-rich Cs(NH)PbClBr nanocrystals by ammonium modulation.

Chem Commun (Camb) 2022 Apr 12;58(30):4800. Epub 2022 Apr 12.

Key Laboratory of Green Perovskites Application of Fujian Provincial Universities, College of Electronics and Information Science, Fujian Jiangxia University, Fuzhou 350108, China.

Correction for 'Tunable deep-blue luminescence from ball-milled chlorine-rich Cs(NH)PbClBr nanocrystals by ammonium modulation' by Hongfei Xiao , , 2022, , 3827-3830, DOI: 10.1039/D1CC07125D.
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http://dx.doi.org/10.1039/d2cc90126aDOI Listing
April 2022

Formulation and Interpretation of International Diagnostic Guidelines for Blood-Stasis Syndrome.

Authors:
Yu Qiu Hao Xu

Chin J Integr Med 2022 04 31;28(4):291-296. Epub 2022 Mar 31.

Xiyuan Hospital, China Academy of Chinese Medical Sciences, Beijing, 100091, China.

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http://dx.doi.org/10.1007/s11655-022-2889-0DOI Listing
April 2022

A 2D Refreshable Braille Display Based on a Stiffness Variable Polymer and Pneumatic Actuation.

Proc SPIE Int Soc Opt Eng 2021 Mar 22;11587. Epub 2021 Mar 22.

Soft Materials Research Lab, Department of Materials Science and Engineering, University of California, at Los Angeles, 420 Westwood Plaza, Los Angeles, CA, USA 90095.

Visual impairments limit a person's ability to process information such as obstacles, environments, reading and especially multimedia content (e.g., photographs and videos). In this work, we present the design and operating mechanism of Braille PolyPad, a prototype 2D refreshable braille display featuring 4×10 braille cells, enabling the transformation of images to 2D braille information. The Braille Polypad is based on a miniature pump enabled pneumatic actuation of Braille pins. The encoder transformed the pattern information to a heating circuits to trigger the softening of a stiffness variable polymer, allowing for large pneumatic actuation in the softened pin area. The braille pattern can switch on and off in 0.5s each regardless of the number of braille cells and pins, with low operation voltage and low power consumption. The technical features in this work could enable low-cost, large-size matrix refreshable braille displays in compact form factor. Full development of the prototype device is still ongoing, including materials optimization, actuation uniformity, and improvement of user-friendly control interface.
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http://dx.doi.org/10.1117/12.2584039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8934119PMC
March 2021

Tunable deep-blue luminescence from ball-milled chlorine-rich Cs(NH)PbClBr nanocrystals by ammonium modulation.

Chem Commun (Camb) 2022 Mar 18;58(23):3827-3830. Epub 2022 Mar 18.

Key Laboratory of Green Perovskites Application of Fujian Provincial Universities, College of Electronics and Information Science, Fujian Jiangxia University, Fuzhou 350108, China.

For the first time, a novel class of deep-blue (DB)-emitting Cs(NH)PbClBr (0.3 ≤ ≤ 1) perovskite nanocrystals (PNCs) were prepared by a facile ligand-assisted one-step ball milling method. The resulted PNCs are characterized by high chlorine content (66.7%) and excellent color purity. Their photoluminescence position can be finely modulated from 434 nm to 447 nm, which extends notably beyond the current Rec. 2020 color standard, by the NH content. Among them, Cs(NH)PbClBr shows the highest quantum yield close to 40%. The PNCs exhibit high phase and optical stability under ambient conditions and UV light according to the NH content. This work offers a new avenue to produce DB perovskites for future full-color displays and optoelectronics.
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http://dx.doi.org/10.1039/d1cc07125dDOI Listing
March 2022

Preventive effects of traditional Chinese medicine formula Huoxiangzhengqi against lipopolysaccharide-induced inflammatory response.

Phytomedicine 2022 Jan 29;99:153968. Epub 2022 Jan 29.

Department of Health Laboratory Technology, School of Public Health and Management, Chongqing Medical University, Chongqing, 400016, China. Electronic address:

Background: Huoxiangzhengqi oral liquid (HX), a pharmaceutical product made from traditional Chinese medicine formulas, has been commonly used in household medication for gastrointestinal disorders, but the mode of action remains largely unclear.

Purpose: This study aims to investigate whether pretreatment with HX prevents lipopolysaccharide (LPS)-induced adverse effects and the potential mechanisms involved.

Methods: Seven-week-old male C57BL/6J mice were orally administered low (1.3 ml/kg) and high doses (2.6 ml/kg) of HX for 7 days, and subsequently subjected to a single dose of LPS at 6 mg/kg. Dexamethasone served as the positive control. Each group had ten animals.

Results: The data demonstrated that either a low or high dose of HX significantly reduced the levels of inflammation induced by LPS in both small intestinal and cortical tissues. LPS profoundly decreased the richness and evenness of the microbiota and disrupted the composition of the intestinal microbial community, but pretreatment with HX did not successfully prevent dysbiosis. No significant improvements in HX against LPS were observed in intestinal local immunity or the secretion of partial gut-brain peptides. In addition, pretreatment with HX prevented the alterations in the expression levels of proteins related to the NF-κB pathway, including phospho-p38, p38, phospho-p44/42, p44/42, p50 and p65 induced by LPS.

Conclusion: Herein, we demonstrated for the first time that the preventive effects of HX against LPS mainly occur through the inhibition of inflammation. These findings provide novel evidence that HX may serve as a new agent for the prevention of gastrointestinal inflammation-related disorders.
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http://dx.doi.org/10.1016/j.phymed.2022.153968DOI Listing
January 2022

Association between Polycystic Ovarian Syndrome and Risk of Gestational Diabetes Mellitus: A Meta-Analysis.

Gynecol Obstet Invest 2022 16;87(2):150-158. Epub 2022 Feb 16.

Department of Obstetrics, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen, China.

Objectives: The results of studies regarding the association between polycystic ovary syndrome (PCOS) and gestational diabetes mellitus (GDM) are controversial.

Design: This meta-analysis was conducted to evaluate the relationship between PCOS and GDM.

Methods: English language articles published before July 2021 were included by searching in databases: PubMed, EMBASE, Web of Science, Medline, and Google Scholar. All these results were computed using STATA 12.0 software. The random-effects models were used to calculate summary odds ratio (OR) or relative risk (RR) and 95% confidence interval (CI) when the heterogeneity was high; Inversely, the fixed-effects models were used to calculate summary OR/RR and 95% CI when the heterogeneity was low.

Results: The present study showed that PCOS was significantly associated with an increased risk of GDM with a random-effects model (OR/RR = 2.02, 95% CI: 1.74-2.34, I2 = 79.5%, p < 0.0001). Subgroup analysis indicated an elevated risk of GDM in PCOS patients in both retrospective and prospective studies (retrospective studies: OR = 1.89, 95% CI: 1.62-2.20; prospective studies: RR = 2.85, 95% CI: 1.77-4.60). In addition, subgroup analysis indicated an elevated risk of GDM in PCOS patients in both Caucasian and Asian populations (Caucasian populations: OR/RR = 2.47, 95% CI: 1.99-3.07; prospective studies: OR/RR = 1.58, 95% CI: 1.23-2.02).

Conclusion: Overall, findings of the meta-analysis showed that women with PCOS have an elevated risk of GDM compared to women without PCOS.

Limitations: First, on account of sources of information, the role of several variables including BMI, the severity of GDM and serum lipid level in the association between PCOS and GDM cannot be evaluated. Second, only studies published in English and Chinese were included, and the publish bias is impossible to avoid.
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http://dx.doi.org/10.1159/000521728DOI Listing
June 2022

Adsorption and reduction from modified polypyrrole enhance electrokinetic remediation of hexavalent chromium-contaminated soil.

Environ Sci Pollut Res Int 2022 Jun 9;29(29):44845-44861. Epub 2022 Feb 9.

State Key Laboratory of Coal Mine Disaster Dynamics and Control, Chongqing University, Chongqing, 400044, China.

Toxic metal pollutant Cr(VI) in the environment will pose a severe threat to animal and human health. In this work, [email protected], [email protected], and Arg/[email protected] were prepared to enhance adsorption of Cr(VI) by doping FeO nanoparticles and amino radicals into the original PPy structure. Their characteristics were investigated by FTIR, SEM, EDS, BET analysis, and batch adsorption experiments. And they were used as permeable reaction barriers (PRB) to combine with electrokinetic remediation (EKR) to remediate Cr-contaminated soil. Adsorption experiment results showed that the maximum adsorption capacities of PPy, [email protected], [email protected], and Arg/[email protected] for Cr(VI) were 60.43 mg/g, 67.12 mg/g, 159.86 mg/g, and 141.50 mg/g, respectively. They all followed the kinetic pseudo-second-order model and the Langmuir isothermal model with a monolayer adsorption behavior. In the EKR/PRB system, the presence of [email protected], [email protected], and Arg/[email protected] obtained the higher Cr(VI) removal efficiency near the anode than that of the PPy, increasing by 74.60%, 26.04%, and 68.64%, respectively. A strong electrostatic attraction between anion contaminants and protonated modified PPy and a reduction from Cr(VI) to Cr(III) appeared in the EKR remediation process under acid conditions. This study opened up a prospect for applying modified PPy composites to treat toxic metal-contaminated soil.
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http://dx.doi.org/10.1007/s11356-022-18998-2DOI Listing
June 2022

A novel frameshift mutation of DVL1-induced Robinow syndrome: A case report and literature review.

Mol Genet Genomic Med 2022 03 9;10(3):e1886. Epub 2022 Feb 9.

Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.

Background: Robinow syndrome is a rare genetic disorder that affects the development of multiple systems. Due to its low prevalence and diversity of phenotypic presentation it has been challenging to definitively characterize features of Robinow syndrome.

Methods: We performed DNA extraction, whole-exome sequencing analysis, and mutation analysis of DVL1 to obtain genetic data on the patient. We subsequently analyzed the patient's clinical and genetic data.

Results: The proband was a 3-month-old female infant who suffered from significant global developmental delay and metabolic disorder. The main clinical manifestations included facial dysmorphisms, bilateral dislocation of the hip joint, and hearing impairment. Whole-exome sequencing of the patient's DNA revealed a heterozygous mutation of c.1620delC in DVL1. Analysis with the MutationTaster application indicated that both were pathogenic (probability = 1), causing frameshift mutations affecting 107 amino acids (p.S542Vfs*107). Significant structural changes were identified in the amino acid sequence after the WNT signaling-related DEP domain site was predicted using the AlphaFold Protein structure database. The stability of the three main domains was then evaluated using SWISS-MODEL, and indicated that the mutation did not alter the DIX, PDZ, or DEP domain sequences. Because all reported pathogenic mutations were located near the DEP domain, we speculated that structural changes around the DEP domain may have impaired WNT domain function and WNT signaling, resulting in Robinow syndrome.

Conclusion: The present case suggests that molecular genetic screening is useful for the diagnosis of developmental disorders, particularly in children with a positive family history. In the current patient all the related pathological variants were located within a narrow locus. This report expands the known manifestations of Robinow syndrome and contributes to refinement of its molecular basis.
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http://dx.doi.org/10.1002/mgg3.1886DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8922971PMC
March 2022
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