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1.
Small ; : e2402557, 2024 Jun 06.
Article En | MEDLINE | ID: mdl-38845022

Perovskite materials, particularly FAPbI3, have emerged as promising candidates for solar energy conversion applications. However, these materials are plagued by well-known defects and suboptimal film quality. Enhancing crystallinity and minimizing defect density are therefore essential steps in the development of high-performance perovskite solar cells. In this study, 1H-Pyrazole-1-carboximidamide hydrochloride (PCH) is introduced into FAPbI3 perovskite films. The molecular structure of PCH features a pyrazole ring bonded to formamidine (FA). The FA moiety of PCH facilitated the incorporation of this additive into the film lattice, while the negatively charged pyrazole ring effectively passivated positively charged iodine vacancies. The presence of PCH led to the fabrication of an FAPbI3 device with improved crystallinity, a smoother surface, and reduced defect density, resulting in enhanced Voc and fill factor. A record power conversion efficiency of 24.62% is achieved, along with exceptional stability under prolonged air exposure and thermal stress. The findings highlight the efficacy of PCH as a novel additive for the development of high-performance perovskite solar cells.

2.
Anal Bioanal Chem ; 2024 Jun 12.
Article En | MEDLINE | ID: mdl-38864917

We present a novel approach for iodide sensing based on the heavy-atom effect to quench the green fluorescent emission of organosilicon nanoparticles (OSiNPs). The fluorescence of OSiNPs was significantly quenched (up to 97.4% quenching efficiency) in the presence of iodide ions (I-) through oxidation by hydrogen peroxide. Therefore, OSiNPs can serve as a fluorescent probe to detect I- with high selectivity and sensitivity. The highly selective response is attributed to the hydrophilic surface enabling good dispersion in aqueous solutions and the lipophilic core allowing the generated liposoluble I2 to approach and quench the fluorescence of OSiNPs. The linear working range for I- was from 0 to 50 µM, with a detection limit of 0.1 µM. We successfully applied this nanosensor to determine iodine content in edible salt. Furthermore, the fluorescent OSiNPs can be utilized for the determination of total antioxidant capacity (TAC). Antioxidants reduce I2 to I-, and the extent of quenching by the remaining I2 on the OSiNPs indicates the TAC level. The responses to ascorbic acid, pyrogallic acid, and glutathione were investigated, and the detection limit for ascorbic acid was as low as 0.03 µM. It was applied to the determination of TAC in ascorbic acid tablets and fruit juices, indicating the potential application of the OSiNP-based I2 sensing technique in the field of food analysis.

3.
J Med Internet Res ; 26: e54375, 2024 May 24.
Article En | MEDLINE | ID: mdl-38787601

BACKGROUND: With the development of emerging technologies, digital behavior change interventions (DBCIs) help to maintain regular physical activity in daily life. OBJECTIVE: To comprehensively understand the design implementations of habit formation techniques in current DBCIs, a systematic review was conducted to investigate the implementations of behavior change techniques, types of habit formation techniques, and design strategies in current DBCIs. METHODS: The process of this review followed the PRISMA (Preferred Reporting Item for Systematic Reviews and Meta-Analyses) guidelines. A total of 4 databases were systematically searched from 2012 to 2022, which included Web of Science, Scopus, ACM Digital Library, and PubMed. The inclusion criteria encompassed studies that used digital tools for physical activity, examined behavior change intervention techniques, and were written in English. RESULTS: A total of 41 identified research articles were included in this review. The results show that the most applied behavior change techniques were the self-monitoring of behavior, goal setting, and prompts and cues. Moreover, habit formation techniques were identified and developed based on intentions, cues, and positive reinforcement. Commonly used methods included automatic monitoring, descriptive feedback, general guidelines, self-set goals, time-based cues, and virtual rewards. CONCLUSIONS: A total of 32 commonly design strategies of habit formation techniques were summarized and mapped to the proposed conceptual framework, which was categorized into target-mediated (generalization and personalization) and technology-mediated interactions (explicitness and implicitness). Most of the existing studies use the explicit interaction, aligning with the personalized habit formation techniques in the design strategies of DBCIs. However, implicit interaction design strategies are lacking in the reviewed studies. The proposed conceptual framework and potential solutions can serve as guidelines for designing strategies aimed at habit formation within DBCIs.


Habits , Humans , Behavior Therapy/methods , Exercise , Health Behavior
4.
ACS Nano ; 18(20): 13117-13129, 2024 May 21.
Article En | MEDLINE | ID: mdl-38727027

The complexity, heterogeneity, and drug resistance of diseases necessitate a shift in therapeutic paradigms from monotherapy to combination therapy, which could augment treatment efficiency. Effective treatment of advanced osteoarthritis (OA) requires addressing three key factors contributing to its deterioration: chronic joint inflammation, lubrication dysfunction, and cartilage-tissue degradation. Herein, we present a supramolecular nanomedicine of multifunctionality via molecular recognition and self-assembly. The employed macrocyclic carrier, zwitterion-modified cavitand (CV-2), not only accurately loads various drugs but also functions as a therapeutic agent with lubricating properties for the treatment of OA. Kartogenin (KGN), a drug for articular cartilage regeneration and protection, and flurbiprofen (FP), an anti-inflammatory agent, were coloaded onto CV-2 assembly, forming a supramolecular nanomedicine KGN&FP@CV-2. The three-in-one combination therapy of KGN&FP@CV-2 addresses the three pathological features for treating OA collectively, and thus provides long-term therapeutic benefits for OA through sustained drug release and intrinsic lubrication in vivo. The multifunctional integration of macrocyclic delivery and therapeutics provides a simple, flexible, and universal platform for the synergistic treatment of diseases involving multiple drugs.


Flurbiprofen , Osteoarthritis , Osteoarthritis/drug therapy , Osteoarthritis/pathology , Animals , Flurbiprofen/chemistry , Flurbiprofen/administration & dosage , Flurbiprofen/pharmacology , Phthalic Acids/chemistry , Phthalic Acids/pharmacology , Drug Delivery Systems , Humans , Drug Carriers/chemistry , Lubrication , Drug Liberation , Mice , Male , Anilides
5.
Cancers (Basel) ; 16(7)2024 Apr 07.
Article En | MEDLINE | ID: mdl-38611111

The anti-tumor function of CD8+ T cells is dependent on their proximity to tumor cells. Current studies have focused on the infiltration level of CD8+ T cells in the tumor microenvironment, while further spatial information, such as spatial localization and inter-cellular communication, have not been defined. In this study, co-detection by indexing (CODEX) was designed to characterize PDAC tissue regions with seven protein markers in order to identify the spatial architecture that regulates CD8+ T cells in human pancreatic ductal adenocarcinoma (PDAC). The cellular neighborhood algorithm was used to identify a total of six conserved and distinct cellular neighborhoods. Among these, one unique spatial architecture of CD8+ T and CD4+ T cell-enriched neighborhoods enriched the majority of CD8+ T cells, but heralded a poor prognosis. The proximity analysis revealed that the CD8+ T cells in this spatial architecture were significantly closer to themselves and the CD4+ T cells than to the tumor cells. Collectively, we identified a unique spatial architecture that restricted the proximity of CD8+ T cells to tumor cells in the tumor microenvironment, indicating a novel immune evasion mechanism of pancreatic ductal adenocarcinoma in a topologically regulated manner and providing new insights into the biology of PDAC.

6.
Heliyon ; 10(2): e25091, 2024 Jan 30.
Article En | MEDLINE | ID: mdl-38312540

The processing of traditional Chinese medicine (TCM) is a unique traditional pharmaceutical technology in China, which is the most important feature that distinguishes Chinese medicine from natural medicine and plant medicine. Since the record in Huangdi Neijing (Inner Canon of the Yellow Emperor), till now, the processing of TCM has experienced more than 2000 years of inheritance, innovation, and development, which is a combination of TCM theory and clinical practice, and plays an extremely important position in the field of TCM. In recent years, as a clinical prescription of TCM, Chinese herbal pieces have played a significant role in the prevention and control of the COVID-19 and exhibited their unique value, and therefore they have become the highlight of China's clinical treatment protocol and provided Chinese experience and wisdom for the international community in the prevention and control of the COVID-19 epidemic. This paper outlines the research progress in the processing of representative TCM in recent years, reviews the mechanism of the related effects of TCM materials after processing, such as changing the drug efficacy and reducing the toxicity, puts forward the integration and application of a variety of new technologies and methods, so as to reveal the modern scientific mystery of the processing technology of TCM.

7.
Nanoscale ; 16(15): 7363-7377, 2024 Apr 18.
Article En | MEDLINE | ID: mdl-38411498

Reactive oxygen species (ROS) are an array of derivatives of molecular oxygen that participate in multiple physiological processes under the control of redox homeostasis. However, under pathological conditions, the over-production of ROS often leads to oxidative stress and inflammatory reactions, indicating a potential therapeutic target. With the rapid development of nucleic acid nanotechnology, scientists have exploited various DNA nanostructures with remarkable biocompatibility, programmability, and structural stability. Among these novel organic nanomaterials, a group of skeleton-like framework nucleic acid (FNA) nanostructures attracts the most interest due to their outstanding self-assembly, cellular endocytosis, addressability, and functionality. Surprisingly, different FNAs manifest similarly satisfactory antioxidative and anti-inflammatory effects during their biomedical application process. First, they are intrinsically endowed with the ability to neutralize ROS due to their DNA nature. Therefore, they are extensively involved in the complicated inflammatory signaling network. Moreover, the outstanding editability of FNAs also allows for flexible modifications with nucleic acids, aptamers, peptides, antibodies, low-molecular-weight drugs, and so on, thus further strengthening the targeting and therapeutic ability. This review focuses on the ROS-scavenging potential of three representative FNAs, including tetrahedral framework nucleic acids (tFNAs), DNA origami, and DNA hydrogels, to summarize the recent advances in their anti-inflammatory therapy applications. Although FNAs exhibit great potential in treating inflammatory diseases as promising ROS scavengers, massive efforts still need to be made to overcome the emerging challenges in their clinical translation.


Nanostructures , Nucleic Acids , Nucleic Acids/chemistry , Reactive Oxygen Species , DNA/chemistry , Nanostructures/chemistry , Anti-Inflammatory Agents
8.
Nanoscale ; 16(10): 5115-5122, 2024 Mar 07.
Article En | MEDLINE | ID: mdl-38369889

Lead sulfide colloidal quantum dots (PbS CQDs) show great potential in next-generation photovoltaics. However, their high specific surface area and complex surface crystallography lead to a high surface trap density, which normally requires more than one type of capping ion or ligand to achieve effective surface passivation. In this study, we performed in situ mixed halogen passivation (MHP) during the direct synthesis of semiconducting PbS CQD inks by using different lead halogens. The different halogens can bind with the surface of the CQD throughout the nucleation/growth process, resulting in optimal surface configuration. As a result, the MHP CQD exhibited superior surface passivation compared to the conventionally iodine-capped CQDs. Finally, we achieved a substantial improvement in efficiency from 10.64% to 12.58% after the MHP treatment. Our work demonstrates the advantages of exploring efficient passivation in the directly synthesized CQD inks.

9.
Int J Antimicrob Agents ; 63(5): 107124, 2024 May.
Article En | MEDLINE | ID: mdl-38412930

For successful viral propagation within infected cells, the virus needs to overcome the cellular integrated stress response (ISR), triggered during viral infection, which, in turn, inhibits general protein translation. This paper reports a tactic employed by viruses to suppress the ISR by upregulating host cell polyribonucleotide nucleotidyltransferase 1 (PNPT1). The propagation of adenovirus, murine cytomegalovirus and hepatovirus within their respective host cells induces PNPT1 expression. Notably, when PNPT1 is knocked down, the propagation of all three viruses is prevented. Mechanistically, the inhibition of PNPT1 facilitates the relocation of mitochondrial double-stranded RNAs (mt-dsRNAs) to the cytoplasm, where they activate RNA-activated protein kinase (PKR). This activation leads to eukaryotic initiation factor 2α (eIF2α) phosphorylation, resulting in the suppression of translation. Furthermore, by scrutinizing the PNPT1 recognition element and screening 17,728 drugs and bioactive compounds approved by the US Food and Drug Administration, lanatoside C was identified as a potent PNPT1 inhibitor. This compound impedes the propagation of adenovirus, murine cytomegalovirus and hepatovirus, and suppresses production of the severe acute respiratory syndrome coronavirus-2 spike protein. These discoveries shed light on a novel strategy to impede pan-viral propagation by activating the host cell mt-dsRNA-PKR-eIF2α signalling axis.


eIF-2 Kinase , Humans , Animals , eIF-2 Kinase/metabolism , eIF-2 Kinase/antagonists & inhibitors , eIF-2 Kinase/genetics , Antiviral Agents/pharmacology , Muromegalovirus/physiology , Muromegalovirus/drug effects , Mice , Eukaryotic Initiation Factor-2/metabolism , Virus Replication/drug effects , RNA, Double-Stranded/genetics , Adenoviridae/genetics , Adenoviridae/drug effects , Phosphorylation , SARS-CoV-2/drug effects
10.
Environ Sci Technol ; 58(9): 4092-4103, 2024 Mar 05.
Article En | MEDLINE | ID: mdl-38373958

Water-soluble inorganic ions (WSIIs, primarily NH4+, SO42-, and NO3-) are major components in ambient PM2.5, but their reproductive toxicity remains largely unknown. An animal study was conducted where parental mice were exposed to PM2.5 WSIIs or clean air during preconception and the gestational period. After delivery, all maternal and offspring mice lived in a clean air environment. We assessed reproductive organs, gestation outcome, birth weight, and growth trajectory of the offspring mice. In parallel, we collected birth weight and placenta transcriptome data from 150 mother-infant pairs from the Rhode Island Child Health Study. We found that PM2.5 WSIIs induced a broad range of adverse reproductive outcomes in mice. PM2.5 NH4+, SO42-, and NO3- exposure reduced ovary weight by 24.22% (p = 0.005), 14.45% (p = 0.048), and 16.64% (p = 0.022) relative to the clean air controls. PM2.5 SO42- exposure reduced the weight of testicle by 5.24% (p = 0.025); further, mice in the PM2.5 SO42- exposure group had 1.81 (p = 0.027) fewer offspring than the control group. PM2.5 NH4+, SO42-, and NO3- exposure all led to lower birth than controls. In mice, 557 placenta genes were perturbed by exposure. Integrative analysis of mouse and human data suggested hypoxia response in placenta as an etiological mechanism underlying PM2.5 WSII exposure's reproductive toxicity.


Air Pollutants , Humans , Pregnancy , Female , Child , Air Pollutants/toxicity , Air Pollutants/analysis , Water , Particulate Matter/toxicity , Particulate Matter/analysis , Birth Weight , Environmental Monitoring , Ions/analysis , China
11.
Adv Mater ; 36(15): e2310428, 2024 Apr.
Article En | MEDLINE | ID: mdl-38230871

Metal hexacyanoferrates (HCFs) are viewed as promising cathode materials for potassium-ion batteries (PIBs) because of their high theoretical capacities and redox potentials. However, the development of an HCF cathode with high cycling stability and voltage retention is still impeded by the unavoidable Fe(CN)6 vacancies (VFeCN) and H2O in the materials. Here, a repair method is proposed that significantly reduces the VFeCN content in potassium manganese hexacyanoferrate (KMHCF) enabled by the reducibility of sodium citrate and removal of ligand H2O at high temperature (KMHCF-H). The KMHCF-H obtained at 90 °C contains only 2% VFeCN, and the VFeCN is concentrated in the lattice interior. Such an integrated Fe-CN-Mn surface structure of the KMHCF-H cathode with repaired surface VFeCN allows preferential decomposition of potassium bis(fluorosulfonyl)imide (KFSI) in the electrolyte, which constitutes a dense anion-dominated cathode electrolyte interphase (CEI) , inhibiting effectively Mn dissolution into the electrolyte. Consequently, the KMHCF-H cathode exhibits excellent cycling performance for both half-cell (95.2 % at 0.2 Ag-1 after 2000 cycles) and full-cell (99.4 % at 0.1 Ag-1 after 200 cycles). This thermal repair method enables scalable preparation of KMHCF with a low content of vacancies, holding substantial promise for practical applications of PIBs.

12.
Biomaterials ; 305: 122470, 2024 Mar.
Article En | MEDLINE | ID: mdl-38228027

The efficacy of radiotherapy has not yet achieved optimal results, partially due to insufficient priming and infiltration of effector immune cells within the tumor microenvironment (TME), which often exhibits suppressive phenotypes. In particular, the infiltration of X-C motif chemokine receptor 1 (XCR1)-expressing conventional type-1 dendritic cells (cDC1s), which are critical in priming CD8+ cytotoxic T cells, within the TME is noticeably restricted. Hence, we present a facile methodology for the efficient fabrication of a calcium phosphate hydrogel loaded with X-C motif chemokine ligand 1 (XCL1) to selectively recruit cDC1s. Manganese phosphate microparticles were also loaded into this hydrogel to reprogram the TME via cGAS-STING activation, thereby facilitating the priming of cDC1s propelled specific CD8+ T cells. They also polarize tumor-associated macrophages towards the M1 phenotype and reduce the proportion of regulatory cells, effectively reversing the immunosuppressive TME into an immune-active one. The yielded XCL1@CaMnP gel exhibits significant efficacy in enhancing the therapeutic outcomes of radiotherapy, particularly when concurrently administered with postoperative radiotherapy, resulting in an impressive 60 % complete response rate. Such XCL1@CaMnP gel, which recruits cDC1s to present tumor antigens generated in situ, holds great potential as a versatile platform for enhanced cancer treatment through modulating the immunosuppressive TME.


CD8-Positive T-Lymphocytes , Cross-Priming , T-Lymphocytes, Cytotoxic , Dendritic Cells , Hydrogels/pharmacology , Tumor Microenvironment
13.
Nat Mater ; 23(2): 237-243, 2024 Feb.
Article En | MEDLINE | ID: mdl-37974006

Dielectric polymers are ubiquitous as electrical insulation in electronic devices and electrical systems. Electrical degradation of dielectric polymers tends to initiate catastrophic failure of numerous devices and systems, but its detection and early warning remain challenging. Here we report a general material strategy that signals the electrical degradation of dielectric polymers by autonomously presenting a visually discernible warning in the form of a pronounced colour change. This colour change is induced by the chromogenic response of molecular indicators blended with the polymer, which are chemically activated by the oxygen radicals generated in situ during the electrical degradation of the polymer. We unveil that the structural degradation and electrical properties of the dielectric polymer are quantitatively correlated with the colour difference. Such a chromogenic process is autonomous without the need of human intervention or other external energy, thus offering the convenience to lower or even eliminate the risk of dielectric failure.

14.
Adv Mater ; 36(2): e2306724, 2024 Jan.
Article En | MEDLINE | ID: mdl-37863645

The abundant oxygen-related defects (e.g., O vacancies, O-H) in the TiO2 electron transport layer results in high surface energy, which is detrimental to effective carrier extraction and seriously impairs the photovoltaic performance and stability of perovskite solar cells. Here, novel surface energy engineering (SEE) is developed by applying a surfactant of heptadecafluorooctanesulfonate tetraethylammonium (HFSTA) on the surface of the TiO2 . Theoretical calculations show that the HFSTA-TiO2 is less prone to form O vacancies, leading to lower surface energy, thus improving the carrier-extraction efficiency. The experimental results show that superior perovskite film is obtained due to the reduced heterogeneous nucleation sites and improved crystallization process on the modified TiO2 . Furthermore, the flexible long alkyl chains in HFSTA considerably relieve the compressive stresses at the buried interface. By combining the passivation of TiO2 , crystallization process modulation, and stress relief, a champion PCE up to 25.03% is achieved. The device without encapsulation sustains 92.2% of its initial PCE after more than 2500 h storage under air ambient with relative humidity of 25-30%. The SEE of a buried interface paves a new way toward high-efficiency, stable perovskite solar cells.

15.
Small ; 20(23): e2310184, 2024 Jun.
Article En | MEDLINE | ID: mdl-38148310

Aqueous potassium-ion batteries (AKIBs) are considered promising electrochemical energy storage systems owing to their high safety and cost-effectiveness. However, the structural degradation resulting from the repeated accommodation of large K-ions and the dissolution of active electrode materials in highly dielectric aqueous electrolytes often lead to unsatisfactory electrochemical performance. This study introduces a high-entropy Prussian blue analog (HEPBA) cathode material for AKIBs, demonstrating significantly enhanced structural stability and reduced dissolution. The HEPBA exhibits a highly reversible specific capacity of 102.4 mAh g-1, with 84.4% capacity retention after undergoing 3448 cycles over a duration of 270 days. Mechanistic insights derived from comprehensive experimental investigations, supported by theoretical calculations, reveal that the HEPBA features a robust structure resistant to dissolution, a solid-solution reaction pathway with negligible volume variation during charge-discharge, and efficient ion transport kinetics characterized by a reduced band gap and a low energy barrier. This study represents a measurable step forward in the development of long-lasting electrode materials for aqueous AKIBs.

16.
Nat Commun ; 14(1): 8068, 2023 Dec 06.
Article En | MEDLINE | ID: mdl-38057299

Gas hydrates provide alternative solutions for gas storage & transportation and gas separation. However, slow formation rate of clathrate hydrate has hindered their commercial development. Here we report a form of porous ice containing an unfrozen solution layer of sodium dodecyl sulfate, here named active ice, which can significantly accelerate gas hydrate formation while generating little heat. It can be readily produced via forming gas hydrates with water containing very low dosage (0.06 wt% or 600 ppm) of surfactant like sodium dodecyl sulfate and dissociating it below the ice point, or by simply mixing ice powder or natural snow with the surfactant. We prove that the active ice can rapidly store gas with high storage capacity up to 185 Vg Vw-1 with heat release of ~18 kJ mol-1 CH4 and the active ice can be easily regenerated by depressurization below the ice point. The active ice undergoes cyclic ice-hydrate-ice phase changes during gas uptake/release, thus removing most critical drawbacks of hydrate-based technologies. Our work provides a green and economic approach to gas storage and gas separation and paves the way to industrial application of hydrate-based technologies.

17.
Mar Biotechnol (NY) ; 25(6): 966-982, 2023 Dec.
Article En | MEDLINE | ID: mdl-37947961

As an opportunistic pathogen, Aeromonas veronii can cause hemorrhagic septicemia of various aquatic animals. In our present study, a dominant strain SJ4, isolated from naturally infected mandarin fish (Siniperca chuatsi), was identified as A. veronii according to the morphological, physiological, and biochemical features, as well as molecular identification. Intraperitoneal injection of A. veronii SJ4 into S. chuatsi revealed clinical signs similar to the natural infection, and the median lethal dosage (LD50) of the SJ4 to S. chuatsi in a week was 3.8 × 105 CFU/mL. Histopathological analysis revealed that the isolate SJ4 could cause cell enlargement, obvious hemorrhage, and inflammatory responses in S. chuatsi. Detection of virulence genes showed the isolate SJ4 carried act, fim, flgM, ompA, lip, hly, aer, and eprCAL, and the isolate SJ4 also produce caseinase, dnase, gelatinase, and hemolysin. In addition, the complete genome of A. veronii SJ4 was sequenced, and the size of the genome of A. veronii SJ4 was 4,562,694 bp, within a G + C content of 58.95%, containing 4079 coding genes. Nine hundred ten genes encoding for several virulence factors, such as type III and VI secretion systems, flagella, motility, etc., were determined based on the VFDB database. Besides, 148 antibiotic resistance-related genes in 27 categories related to tetracyclines, fluoroquinolones, aminoglycosides, macrolides, chloramphenicol, and cephalosporins were also annotated. The present results suggested that A. veronii was etiological agent causing the bacterial septicemia of S. chuatsi in this time, as well as provided a valuable base for revealing pathogenesis and resistance mechanism of A. veronii.


Fish Diseases , Gram-Negative Bacterial Infections , Animals , Aeromonas veronii/genetics , Fishes , Virulence/genetics , Virulence Factors/genetics , Anti-Bacterial Agents , Gram-Negative Bacterial Infections/genetics , Fish Diseases/genetics
18.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 40(12): 1517-1520, 2023 Dec 10.
Article Zh | MEDLINE | ID: mdl-37994134

OBJECTIVE: To explore the genetic characteristics of a Chinese pedigree affected with van der Woude syndrome (VWS). METHODS: A proband who had visited the Drum Tower Hospital Affiliated to Nanjing University Medical School in May 2020 for "two previous pregnancies with cleft lip and palate" was selected as the study subject. Trio-whole exome sequencing (trio-WES) was carried out for the patient. Candidate variants were verified by Sanger sequencing of her pedigree members (8 individuals from four generations) and bioinformatic analysis. Chromosomal microarray analysis (CMA) was used to rule out copy number variations in the fetuses. RESULTS: Trio-WES revealed that the proband and her father had both harbored a heterozygous c.742G>T (p.G248C) missense variant of the IRF6 gene, for which her mother was of the wild type. The variant was located in a region with important functions and has not been reported previously. Prediction with several software suggested that it is likely to have a significant impact on the protein structure/function and is highly correlated with the specific phenotypes in this pedigree. Sanger sequencing confirmed co-segregation of the genotypes and phenotypes in the pedigree. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), this variant was rated as likely pathogenic (PM1+PM2_Supporting+PP1+PP3+PP4). Based on the above results, pre-implantation genetic diagnosis was carried out for the proband, which has led to birth of a healthy offspring with normal results for both site testing and CMA. CONCLUSION: The IRF6: c.742G>T (p.G248C) heterozygous variant probably underlay the VWS in this pedigree. Above finding has also enabled reproductive guidance for the proband.


Cleft Lip , Cleft Palate , Humans , Female , Cleft Lip/genetics , Cleft Palate/genetics , Pedigree , DNA Copy Number Variations , East Asian People , Interferon Regulatory Factors/genetics , Mutation
19.
BMC Public Health ; 23(1): 2368, 2023 11 29.
Article En | MEDLINE | ID: mdl-38031093

BACKGROUND: University students' academic engagement has a significant impact on their academic performance and career development. METHODS: In order to explore the influential mechanisms of social support on university students' academic engagement and the mediating role of academic motivation and life satisfaction, this study used the Adolescent Social Support Scale, University Students' Academic Engagement Scale Questionnaire, Adolescent Student Life Satisfaction Scale and University Students' Academic Motivation Questionnaire, to conduct a questionnaire survey and empirical analysis on 2106 Chinese university students. RESULTS: (1) social support significantly and positively predicts academic engagement; (2) social support influences academic engagement through the mediating effect of life satisfaction; (3) social support influences academic engagement through the mediating effect of academic motivation; (4) life satisfaction and academic motivation play a chain mediating role in the effect of social support on academic engagement. CONCLUSIONS: This study contributes to understanding the underlying mechanisms of the relationship between social support and academic engagement, which in turn provides insights for universities and the departments concerned to make measures to improve the level of university students' academic engagement.


Motivation , Social Support , Adolescent , Humans , Universities , Students , Personal Satisfaction
20.
Psychol Res Behav Manag ; 16: 4583-4598, 2023.
Article En | MEDLINE | ID: mdl-38024656

Background: The phenomenon of university students' learning burnout has attracted the research of many scholars because of its typicality. This study aims to explore the relationship between life satisfaction, academic motivation, social support and learning burnout among university students and its underlying mechanisms. Methods: A total of 1917 university students participated in this cross-sectional study. Research instruments included the Adolescent Student Life Satisfaction Scale, University Students' Academic Motivation Questionnaire, Adolescent Learning Burnout Scale and Adolescent Social Support Scale. The data analysis comprised descriptive statistics, correlation analyses, and assessment of multicollinearity through Variance Inflation Factor (VIF). Advanced analyses were conducted using Model 4 for mediation and Model 1 for moderation from the PROCESS macro. Results: (1) life satisfaction significantly and positively predicts academic motivation; (2) academic motivation significantly and negatively predicts learning burnout; and (3) life satisfaction significantly and negatively predicts learning burnout; (4) academic motivation partially mediates the effect of life satisfaction on learning burnout; and (5) social support plays a moderating role in the effect of academic motivation on learning burnout. Discussions: These results illuminate the complex web of relationships among life satisfaction, academic motivation, social support, and learning burnout. The partial mediating role of academic motivation underscores its significance in the link between life satisfaction and learning burnout. Additionally, the moderating impact of social support emphasizes its role in ameliorating or exacerbating the effects of academic motivation on learning burnout. Conclusion: These findings can help researchers and educators better understand the underlying mechanisms between life satisfaction and learning burnout. Meanwhile, the results of the study can provide practical and effective operational suggestions for preventing and intervening in university students' learning burnout and improving their academic motivation.

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