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1.
Mol Diagn Ther ; 2024 Jul 05.
Article in English | MEDLINE | ID: mdl-38967864

ABSTRACT

BACKGROUND: There is no consensus regarding the specific genes included in the homologous recombination repair (HRR) gene panel for identifying the HRR deficiency (HRD) status and predicting the prognosis of epithelial ovarian cancer (EOC) patients. OBJECTIVE: We aimed to explore a 15-gene panel involving the HRR pathway as a predictive prognostic indicator in Chinese patients newly diagnosed with EOC. PATIENTS AND METHODS: We reviewed the previously published reports about different HRR gene panels and prespecified the 15-gene panel. The genetic testing results in a 15-gene panel from 308 EOC patients diagnosed between 2014 and 2022 from six centers were collected. The association of clinicopathologic characteristics, the use of poly (adenosine diphosphate-ribose) polymerase inhibitors (PARPis) and progression-free survival (PFS) with 15-gene panel HRR mutations (HRRm) status was assessed. RESULTS: 43.2% (133/308) of patients were determined to carry 144 deleterious HRRm, among which 68.1% (98/144) were germline mutations and 32.8% (101/308) were BRCA1/2 gene lethal mutations. The hazard ratio (HR) (95% confidence interval, CI) for PFS (HRRm v HRR wild type, HRRwt) using the 15-gene panel HRRm was 0.42 (0.28-0.64) at all stages and 0.42 (0.27-0.65) at stages IIIC-IV. However, a prognostic difference was observed only between the BRCA mutation group and the HRRwt group, not between the non-BRCA HRRm group and the HRRwt group. For the subgroups of patients not using PARPis, the HR (95% CI) was 0.41 (0.24-0.68) at stages IIIC-IV. CONCLUSIONS: This study provides evidence that 15-gene panel HRRm can predict the prognosis of EOC, of these only the BRCA1/2 mutations, not non-BRCA HRRm, contribute to prognosis prediction. Among patients without PARPis, the HRRm group presented a better PFS. This is the first study of this kind in the Chinese population.

2.
Int Immunopharmacol ; 139: 112671, 2024 Jul 13.
Article in English | MEDLINE | ID: mdl-39003929

ABSTRACT

OBJECTIVE: Although some studies suggested that metabolic abnormalities may contribute to the development of pulmonary fibrosis, there are no studies that have reported a clear causal relationship between them, and the aim of this study was to explore the causal relationship between plasma metabolites and pulmonary fibrosis using Mendelian randomization (MR) combined with metabolomics analysis. METHODS: Firstly, we explored the causal relationship between 1400 metabolites and pulmonary fibrosis using MR analysis, and detected plasma metabolites in mice with pulmonary fibrosis using metabolomics technology, thus validating the results of MR analysis. In addition, we again used MR to explore the causal relationship between the results of the differential metabolite KEGG in metabolomics and pulmonary fibrosis. RESULTS: A total of 52 metabolites were screened for association with pulmonary fibrosis in the MR analysis of 1400 plasma metabolites with pulmonary fibrosis, based on P < 0.05 for the IVW method, with consistent OR directions for all methods. Four of them were validated in the plasma of mice with pulmonary fibrosis, namely carnitine c18:2 levels (negative correlation), Glutamine degradant levels (positive correlation), Propionylcarnitine (c3) levels (negative correlation), carnitine to palmitoylcarnitine (c16) ratio (negative correlation). In addition, KEGG analysis of plasma differential metabolites revealed that the signaling pathway of biosynthetic of unsaturated fatty acids was most affected in mice with pulmonary fibrosis, and MR analysis showed that imbalance in the ratio of monounsaturated fatty acids was significantly associated with pulmonary fibrosis. CONCLUSIONS: Our study suggests that abnormal fatty acid levels due to reduced levels of carnitine-like metabolites, and an imbalance in the ratio of monounsaturated, promote the development of pulmonary fibrosis. This study reveals the marker metabolites and metabolic pathways affecting the development of pulmonary fibrosis to provide a basis for the development of new drugs for the treatment of pulmonary fibrosis.

3.
Article in English, Chinese | MEDLINE | ID: mdl-39034149

ABSTRACT

OBJECTIVES: To investigate the incidence and influencing factors of allergic reactions to cephalosporins. METHODS: A cross-sectional study of 29 medical institutions in Zhejiang Province was conducted from April 2021 to June 2021. The incidence of allergic reactions to cephalosporins was investigated. The influencing factors of cephalosporin-induced allergic reactions were analyzed by Poisson regression. RESULTS: A total of 56 155 patients were included in this study. The total incidence of allergic reactions to cephalosporin was 1.67 ‰, the highest incidences of anaphylaxis occurred in ceftizoxime (4.27‰), followed by ceftriaxone (3.49‰) and cefotaxime (2.40‰). There was no significant difference in the incidence of allergic reactions between patients with negative skin tests and those without skin tests (1.75‰ vs. 1.63‰, RR=1.07, 95%CI:0.70-1.63, P> 0.05). Poisson regression showed that body mass index (BMI) <18.5 kg/cm2 (RR=2.43, 95%CI: 1.23-4.82, P<0.01) and history of ß-lactam antibiotics allergy (RR=33.88, 95%CI: 1.47-781.12, P<0.05) increased cephalosporin-induced anaphylaxis. Compared with cefuroxime, the risk of allergic reactions was increased for ceftriaxone (RR=3.08, 95%CI: 1.70-5.59, P<0.01), ceftazidime (RR=1.89, 95%CI: 1.03-3.47, P<0.05), and ceftriaxone (RR=3.74, 95%CI: 1.64-8.50, P<0.01). CONCLUSIONS: Lower BMI and history of ß-lactam antibiotics allergy increase the risk of cephalosporin allergic reactions, and the routine skin test may not reduce the occurrence of allergic reactions to cephalosporins.

4.
J Ophthalmol ; 2024: 6685092, 2024.
Article in English | MEDLINE | ID: mdl-39041005

ABSTRACT

This study aimed to evaluate the efficacy and safety of intravitreal dexamethasone implants in the treatment of ocular toxocariasis (OT). A retrospective analysis was performed on 6 cases in which laboratory tests diagnosed OT. All patients were administered with intravitreal dexamethasone implants with or without vitrectomy. The average follow-up time was 19.7 months. All operated eyes achieved anatomic success, and all patients' visual acuity was improved. Five of these six had a visual acuity of 20/100, and three had final acuity of 20/40 or even better. Intravitreal dexamethasone implants can be used to treat different types of OT, which not only effectively control inflammation and improve the patient's vision but also reduce the use of systemic glucocorticoids.

5.
ACS Appl Mater Interfaces ; 16(27): 34936-34946, 2024 Jul 10.
Article in English | MEDLINE | ID: mdl-38922846

ABSTRACT

Ni-based oxides are promising catalysts for CO2 methanation. However, Ni-based catalysts also have some unresolved issues and drawbacks in practical applications. The activity and selectivity of Ni-based catalysts in CO2 methanation at low temperatures still need to be improved. Here, Ni/ZrO2 nanofibers with high surface areas (up to 101.2 m2/g) were prepared by electrospinning methods. The Ni/ZrO2-ES (also named as 66Ni/ZrO2) catalyst showed excellent catalytic performance in CO2 methanation (the CO2 conversion = 81% and CH4 selectivity = 99% at 350 °C) and excellent stability for 100 h, which was better than most reported Ni/ZrO2 catalysts. However, the comparison sample Ni/ZrO2-CP prepared by the coprecipitation method had poor catalytic performance (the CO2 conversion = 54% and CH4 selectivity = 90% at 350 °C). Within 100 h, the CO2 conversion decreased to 30% and the CH4 selectivity decreased to 52%. Both EPR and O1S XPS confirmed that Ni/ZrO2 nanofibers can form more reactive oxygen species vacancies, and CO2-TPD confirmed that nanofibers had more CO2 adsorption sites compared with the control sample Ni/ZrO2-CP. In situ DRIFTS analysis showed that bidentate carbonate and monodentate carbonate were key intermediates in CO2 methanation. The catalytic performance of Ni/ZrO2 nanofiber catalysts would be attributed to higher dispersion of Ni species on the surface of nanofibers, high specific surface area (101.2 m2/g), more oxygen vacancies, more CO2 adsorption sites, and the synergistic effect between Ni nanoparticles and ZrO2 nanofibers. This work may inspire the rational design of Ni/ZrO2 nanofiber catalysts with rich oxygen vacancies for low-temperature CO2 methanation.

6.
Chem Soc Rev ; 53(13): 6694-6734, 2024 Jul 01.
Article in English | MEDLINE | ID: mdl-38747082

ABSTRACT

Delayed luminescence (DF), including phosphorescence and thermally activated delayed fluorescence (TADF), and circularly polarized luminescence (CPL) exhibit common and broad application prospects in optoelectronic displays, biological imaging, and encryption. Thus, the combination of delayed luminescence and circularly polarized luminescence is attracting increasing attention. The encapsulation of guest emitters in various host matrices to form host-guest systems has been demonstrated to be an appealing strategy to further enhance and/or modulate their delayed luminescence and circularly polarized luminescence. Compared with conventional liquid crystals, polymers, and supramolecular matrices, porous crystalline frameworks (PCFs) including metal-organic frameworks (MOFs), covalent-organic frameworks (COFs), zeolites and hydrogen-bonded organic frameworks (HOFs) can not only overcome shortcomings such as flexibility and disorder but also achieve the ordered encapsulation of guests and long-term stability of chiral structures, providing new promising host platforms for the development of DF and CPL. In this review, we provide a comprehensive and critical summary of the recent progress in host-guest photochemistry via the encapsulation engineering of guest emitters in PCFs, particularly focusing on delayed luminescence and circularly polarized luminescence. Initially, the general principle of phosphorescence, TADF and CPL, the combination of DF and CPL, and energy transfer processes between host and guests are introduced. Subsequently, we comprehensively discuss the critical factors affecting the encapsulation engineering of guest emitters in PCFs, such as pore structures, the confinement effect, charge and energy transfer between the host and guest, conformational dynamics, and aggregation model of guest emitters. Thereafter, we summarize the effective methods for the preparation of host-guest systems, especially single-crystal-to-single-crystal (SC-SC) transformation and epitaxial growth, which are distinct from conventional methods based on amorphous materials. Then, the recent advancements in host-guest systems based on PCFs for delayed luminescence and circularly polarized luminescence are highlighted. Finally, we present our personal insights into the challenges and future opportunities in this promising field.

7.
Cell Rep Med ; 5(6): 101568, 2024 Jun 18.
Article in English | MEDLINE | ID: mdl-38754419

ABSTRACT

Cells respond divergently to drugs due to the heterogeneity among cell populations. Thus, it is crucial to identify drug-responsive cell populations in order to accurately elucidate the mechanism of drug action, which is still a great challenge. Here, we address this problem with scRank, which employs a target-perturbed gene regulatory network to rank drug-responsive cell populations via in silico drug perturbations using untreated single-cell transcriptomic data. We benchmark scRank on simulated and real datasets, which shows the superior performance of scRank over existing methods. When applied to medulloblastoma and major depressive disorder datasets, scRank identifies drug-responsive cell types that are consistent with the literature. Moreover, scRank accurately uncovers the macrophage subpopulation responsive to tanshinone IIA and its potential targets in myocardial infarction, with experimental validation. In conclusion, scRank enables the inference of drug-responsive cell types using untreated single-cell data, thus providing insights into the cellular-level impacts of therapeutic interventions.


Subject(s)
Gene Regulatory Networks , Single-Cell Analysis , Gene Regulatory Networks/drug effects , Humans , Single-Cell Analysis/methods , Medulloblastoma/genetics , Medulloblastoma/drug therapy , Medulloblastoma/pathology , RNA-Seq/methods , Animals , Depressive Disorder, Major/genetics , Depressive Disorder, Major/drug therapy , Transcriptome/genetics , Transcriptome/drug effects , Gene Expression Profiling/methods , Macrophages/metabolism , Macrophages/drug effects , Myocardial Infarction/genetics , Myocardial Infarction/drug therapy , Single-Cell Gene Expression Analysis
8.
Open Forum Infect Dis ; 11(5): ofae192, 2024 May.
Article in English | MEDLINE | ID: mdl-38680614

ABSTRACT

Background: Human adenoviruses (HAdVs) can cause outbreaks of flu-like illness in university settings. Most infections in healthy young adults are mild; severe illnesses rarely occur. In Fall 2022, an adenovirus outbreak was identified in university students. Methods: HAdV cases were defined as university students 17-26 years old who presented to the University Health Service or nearby emergency department with flu-like symptoms (eg, fever, cough, headache, myalgia, nausea) and had confirmed adenovirus infections by polymerase chain reaction (PCR). Demographic and clinical characteristics were abstracted from electronic medical records; clinical severity was categorized as mild, moderate, severe, or critical. We performed contact investigations among critical cases. A subset of specimens was sequenced to confirm the HAdV type. Results: From 28 September 2022 to 30 January 2023, 90 PCR-confirmed cases were identified (51% female; mean age, 19.6 years). Most cases (88.9%) had mild illness. Seven cases required hospitalization, including 2 critical cases that required intensive care. Contact investigation identified 44 close contacts; 6 (14%) were confirmed HAdV cases and 8 (18%) reported symptoms but never sought care. All typed HAdV-positive specimens (n = 36) were type 4. Conclusions: While most students with confirmed HAdV had mild illness, 7 otherwise healthy students had severe or critical illness. Between the relatively high number of hospitalizations and proportion of close contacts with symptoms who did not seek care, the true number of HAdV cases was likely higher. Our findings illustrate the need to consider a wide range of pathogens, even when other viruses are known to be circulating.

9.
Physiol Plant ; 176(2): e14288, 2024.
Article in English | MEDLINE | ID: mdl-38644531

ABSTRACT

Heat shock protein 20 (Hsp20) is a small molecule heat shock protein that plays an important role in plant growth, development, and stress resistance. Little is known about the function of Hsp20 family genes in apple (Malus domestica). Here, we performed a genome-wide analysis of the apple Hsp20 gene family, and a total of 49 Hsp20s genes were identified from the apple genome. Phylogenetic analysis revealed that the 49 genes were divided into 11 subfamilies, and MdHsp18.2b, a member located in the CI branch, was selected as a representative member for functional characterization. Treatment with NaCl and Botryosphaeria dothidea (B. dothidea), the causal agent of apple ring rot disease, significantly induced MdHsp18.2b transcription level. Further analysis revealed that overexpressing MdHsp18.2b reduced the resistance to salt stress but enhanced the resistance to B. dothidea infection in apple calli. Moreover, MdHsp18.2b positively regulated anthocyanin accumulation in apple calli. Physiology assays revealed that MdHsp18.2b promoted H2O2 production, even in the absence of stress factors, which might contribute to its functions in response to NaCl and B. dothidea infection. Hsps usually function as homo- or heterooligomers, and we found that MdHsp18.2b could form a heterodimer with MdHsp17.9a and MdHsp17.5, two members from the same branch with MdHsp18.2b in the phylogenetic tree. Therefore, we identified 49 Hsp20s genes from the apple genome and found that MdHsp18.2b was involved in regulating plant resistance to salt stress and B. dothidea infection, as well as in regulating anthocyanin accumulation in apple calli.


Subject(s)
Gene Expression Regulation, Plant , HSP20 Heat-Shock Proteins , Malus , Phylogeny , Plant Diseases , Plant Proteins , Malus/genetics , Malus/microbiology , Malus/metabolism , Plant Proteins/genetics , Plant Proteins/metabolism , Plant Diseases/microbiology , Plant Diseases/genetics , HSP20 Heat-Shock Proteins/genetics , HSP20 Heat-Shock Proteins/metabolism , Ascomycota/physiology , Ascomycota/genetics , Ascomycota/pathogenicity , Multigene Family , Disease Resistance/genetics , Anthocyanins/metabolism
10.
Chin Med ; 19(1): 46, 2024 Mar 11.
Article in English | MEDLINE | ID: mdl-38468280

ABSTRACT

BACKGROUND: Stroke is a leading cause of mortality and disability with ischemic stroke being the most common type of stroke. Salvianolic acid C (SalC), a polyphenolic compound found in Salviae Miltiorrhizae Radix et Rhizoma, has demonstrated therapeutic potential in the recovery phase of ischemic stroke. However, its pharmacological effects and underlying mechanisms during the early stages of ischemic stroke remain unclear. This study aimed to examine the potential mechanism of action of SalC during the early phase of ischemic stroke using network pharmacology strategies and RNA sequencing analysis. METHODS: SalC effects on infarct volume, neurological deficits, and histopathological changes were assessed in a mouse model of transient middle cerebral artery occlusion (tMCAO). By integrating RNA sequencing data with a cerebral vascular disease (CVD)-related gene database, a cerebral ischemic disease (CID) network containing dysregulated genes from the tMCAO model was constructed. Network analysis algorithms were applied to evaluate the key nodes within the CID network. In vivo and in vitro validation of crucial targets within the identified pathways was conducted. RESULTS: SalC treatment significantly reduced infarct volume, improved neurological deficits, and reversed pathological changes in the tMCAO mouse model. The integration of RNA sequencing data revealed an 80% gene reversion rate induced by SalC within the CID network. Among the reverted genes, 53.1% exhibited reversion rates exceeding 50%, emphasizing the comprehensive rebalancing effect of SalC within the CID network. Neuroinflammatory-related pathways regulated by SalC, including the toll-like-receptor 4 (TLR4)- triggering receptor expressed on myeloid cells 1 (TREM1)-nuclear factor kappa B (NF-κB) pathway, were identified. Further in vivo and in vitro experiments confirmed that TLR4-TREM1-NF-κB pathway was down-regulated by SalC in microglia, which was essential for its anti-inflammatory effect on ischemic stroke. CONCLUSIONS: SalC attenuated cerebral ischemic injury by inhibiting neuroinflammation mediated by microglia, primarily through the TLR4-TREM1-NF-κB pathway. These findings provide valuable insights into the potential therapeutic benefits of SalC in ischemic stroke.

11.
Molecules ; 29(6)2024 Mar 19.
Article in English | MEDLINE | ID: mdl-38543005

ABSTRACT

The development of electrode materials with excellent performance serves as the key for researchers to enhance the energy density of supercapacitors. Cobalt molybdate (CoMoO4) nanomaterials have been regarded as one of the most prospective electrode materials for supercapacitors due to their high theoretical capacitance and excellent electrical conductivity. In this paper, three kinds of CoMoO4 nanorods were prepared directly via simple and environmentally friendly solid-phase chemical reactions with solid inorganic salts as raw materials. According to X-ray powder diffraction (XRD) and scanning electron microscopy (SEM) test results, different reagents had certain effects on the size and morphology of CoMoO4, and these affected its electrochemical performance. In particular, the samples prepared with Co(NO3)2·6H2O as raw material took on a more uniform micromorphology, with a better crystallinity. Simultaneously, electrochemical test results showed that the samples synthesized with Co(NO3)2·6H2O presented relatively good electrical conductivity and a large specific capacitance (177 F g-1). This may be due to the nitrates reacting more slowly during the reaction and the crystals having difficulty aggregating during growth. Therefore, the structure of the prepared CoMoO4 nanomaterial was more uniform, and it was resistant to collapse during the charging and discharging process; thus, the capacitor presents the best performance.

12.
BMJ Open Respir Res ; 11(1)2024 Feb 23.
Article in English | MEDLINE | ID: mdl-38395457

ABSTRACT

BACKGROUND: Controversy exists regarding the association between non-obstructive dyspnoea and the future development of chronic obstructive pulmonary disease (COPD) and mortality. Therefore, we aimed to evaluate the association of non-obstructive dyspnoea with mortality and incident COPD in adults. METHODS: We searched PubMed, Embase, and Web of Science to identify studies published from inception to 13 May 2023. Eligibility screening, data extraction, and quality assessment of the retrieved articles were conducted independently by two reviewers. Studies were included if they were original articles comparing incident COPD and all-cause mortality between individuals with normal lung function with and without dyspnoea. The primary outcomes were incident COPD and all-cause mortality. The secondary outcome was respiratory disease-related mortality. We used the random-effects model to calculate pooled estimates and corresponding 95% confidence interval (CI). Heterogeneity was determined using the I² statistic. RESULTS: Of 6486 studies, 8 studies involving 100 758 individuals fulfilled the inclusion and exclusion criteria and were included in the study. Compared with individuals without non-obstructive dyspnoea, individuals with non-obstructive dyspnoea had an increased risk of incident COPD (relative risk: 1.41, 95% CI: 1.08 to 1.83), and moderate heterogeneity was found (p=0.079, I2=52.2%). Individuals with non-obstructive dyspnoea had a higher risk of all-cause mortality (hazard ratio: 1.21, 95% CI: 1.14 to 1.28, I2=0.0%) and respiratory disease-related mortality (hazard ratio: 1.52, 95% CI: 1.14 to 2.02, I2=0.0%) than those without. CONCLUSIONS: Individuals with non-obstructive dyspnoea are at a higher risk of incident COPD and all-cause mortality than individuals without dyspnoea. Further research should investigate whether these high-risk adults may benefit from risk management and early therapeutic intervention. PROSPERO REGISTRATION NUMBER: CRD42023395192.

13.
Curr HIV Res ; 2024 Jan 19.
Article in English | MEDLINE | ID: mdl-38310468

ABSTRACT

BACKGROUND: Men who have sex with men (MSM) in China have a high risk for HIV infection but experience suboptimal rates of HIV testing and service engagement due to various social and structural barriers. We developed a mobile health (mHealth) intervention entitled "WeTest-Plus" (WeTest+) as a user-centered "one-stop service" approach for delivering access to comprehensive information about HIV risk, HIV self-testing, behavioral and biomedical prevention, confirmatory testing, treatment, and care. OBJECTIVE: The goal of the current study was to investigate the feasibility of WeTest+ to provide continuous HIV services to high-risk MSM. METHODS: Participants completed a 3-week pilot test of WeTest+ to examine acceptability, feasibility, and recommendations for improvement. Participants completed a structured online questionnaire and qualitative exit interviews facilitated by project staff. "Click-through" rates were assessed to examine engagement with online content. RESULTS: 28 participants were included, and the average age was 27.6 years (standard deviation = 6.8). Almost all participants (96.4%) remained engaged with the WeTest+ program over a 3-week observational period. The majority (92.9%) self-administered the HIV self-test and submitted their test results through the online platform. Overall click-through rates were high (average 67.9%). Participants provided favorable comments about the quality and relevance of the WeTest+ information content, the engaging style of information presentation, and the user-centered features. CONCLUSION: This pilot assessment of WeTest+ supports the promise of this program for promoting HIV self-testing and linkage to in-person services for MSM in China. Findings underscore the utility of a user-centered approach to mHealth program design.

14.
Inorg Chem ; 63(7): 3467-3476, 2024 Feb 19.
Article in English | MEDLINE | ID: mdl-38306402

ABSTRACT

The energy gap and conduction band position of catalysts play crucial roles in solar-to-hydrogen (STH) transformation technology. Unfortunately, although an increase in the conduction band position can effectively promote the photoreduction capacity of the photocatalyst, it will inevitably widen the band gap, thus reducing the light-absorption scale. It seems that there is a contradiction between the reduction of band gap and the improvement of conduction band position, which is that "You can't have your cake and eat it too." Herein, an ultrasimple molecular adsorption strategy was engineered by adsorbing hydrazine hydrate on the surface of TiO2. The theoretical and experimental results indicated that the strong electron-donating effect of amino groups in hydrazine hydrate can promote the redistribution of photogenerated electrons and form surface electron networks on the surface of TiO2 photocatalysts, which can bend the conduction band upward and significantly improve its photoreduction ability. Besides, the adsorption of -NH2 can narrow the band gap width of TiO2 and promote the separation efficiency of photogenerated carriers. More interestingly, it can also effectively enhance the adsorption of H2O and H+, thus greatly elevating the STH efficiency. The STH rate of the as-prepared T-N-3 can be increased by ≈530%. This work sheds light on a new approach for resolving the contradiction between photoreduction and light absorption capabilities to effectively enhance photocatalytic performance.

15.
Invest Ophthalmol Vis Sci ; 65(2): 9, 2024 Feb 01.
Article in English | MEDLINE | ID: mdl-38315492

ABSTRACT

Purpose: This observational study aimed to identify mutations in monogenic syndromic high myopia (msHM) using data from reported samples (n = 9370) of the Myopia Associated Genetics and Intervention Consortium (MAGIC) project. Methods: The targeted panel containing 298 msHM-related genes was constructed and screening of clinically actionable variants was performed based on whole exome sequencing. Capillary sequencing was used to verify the identified gene mutations in the probands and perform segregation analysis with their relatives. Results: A total of 381 candidate variants in 84 genes and 85 eye diseases were found to contribute to msHM in 3.6% (335/9370) of patients with HM. Among them, the 22 genes with the most variations accounted for 62.7% of the diagnostic cases. In the genotype-phenotype association analysis, 60% (201/335) of suspected msHM cases were recalled and 25 patients (12.4%) received a definitive genetic diagnosis. Pathogenic variants were distributed in 18 msHM-related diseases, mainly involving retinal dystrophy genes (e.g. TRPM1, CACNA1F, and FZD4), connective tissue disease genes (e.g. FBN1 and COL2A1), corneal or lens development genes (HSF4, GJA8, and MIP), and other genes (TEK). The msHM gene mutation types were allocated to four categories: nonsense mutations (36%), missense mutations (36%), frameshift mutations (20%), and splice site mutations (8%). Conclusions: This study highlights the importance of thorough molecular subtyping of msHM to provide appropriate genetic counselling and multispecialty care for children and adolescents with HM.


Subject(s)
Myopia , Retinal Dystrophies , TRPM Cation Channels , Child , Adolescent , Humans , Exome Sequencing , Mutation , Myopia/diagnosis , Myopia/genetics , Frameshift Mutation , Retinal Dystrophies/genetics , Pedigree , Frizzled Receptors/genetics , TRPM Cation Channels/genetics
16.
Org Biomol Chem ; 22(4): 682-693, 2024 Jan 24.
Article in English | MEDLINE | ID: mdl-38189574

ABSTRACT

(Hetero)aromatic carboxylic acids and their derivatives attract attention due to their role in the synthesis of several biologically active molecules, active pharmaceutical ingredients, polymers, etc. Carbon dioxide (CO2) is a prime C1 source for the synthesis of aromatic carboxylic acids because of its nontoxicity, nonflammability, abundance and renewability. Owing to the thermodynamic and chemical inertness of CO2, traditional carboxylation to aromatic carboxylic acids with CO2 is always performed under harsh reaction conditions or using stoichiometric metallic reductants. Visible-light-driven carboxylation with CO2 provides an environmentally benign, mild, and high-efficiency route for the production of aromatic carboxylic acids. This review comprehensively introduces the visible-light-driven preparation of aromatic carboxylic acids through a visible-light-driven oxidative addition and reductive elimination mechanism, binding of aryl (radical) anions which are produced by photoinduced electron transfer (PET) to CO2, binding of carbon dioxide anion radicals (CO2˙-) which are formed by PET to aryl compounds, radical coupling between CO2˙- and aryl radicals, and other mechanisms. Finally, this review provides a summary and the future work direction. This article offers a theoretical guidance for efficient synthesis of aromatic carboxylic acids via photocatalysis.

17.
J Psychiatr Res ; 170: 394-407, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38218013

ABSTRACT

BACKGROUND: Problematic use of mobile phones (PMPU) has been described as a serious public health issue. METHODS: This study was a parallel three-arm randomized controlled trial and has completed registration (ClinicalTrials.gov Identifier: NCT05843591). Ninety college students with PMPU were randomly assigned to the aerobic exercise group (AE group, n = 30), the Tai Chi Chuan group (TCC group, n = 30), or the wait-list control group (WLC group, n = 30). At the end of the intervention, stool samples from the study participants were collected for biological analysis based on 16 S rDNA amplicon sequencing technology. The primary outcome was addiction symptoms assessed by the Smartphone Addiction Scale-Short Version (SAS-SV). The secondary outcomes are emotional symptoms, physical symptoms, and flora species. RESULTS: Compared with the WLC group, the AE and TCC groups showed reductions in PMPU levels, physical and mental fatigue, but there was no difference between the two groups. Moreover, the effect of increasing self-esteem embodied in the TCC group was not present in the AE group. Compared to the WLC group, the relative abundance of Bacteroidaceae and Bacteroides were lower in the AE group, while the relative abundance of Erysipelotrichaceae and Alistipes were lower in the TCC group. And the relative abundance of Bacteroidaceae, Bacteroides, and Alistipes were significantly and negatively correlated with the decline in PMPU scores. CONCLUSION: AE or TCC is an effective, safe and efficient intervention for college students with PMPU, providing some physiological and psychological benefits and having some impact on their intestinal flora.


Subject(s)
Cell Phone Use , Gastrointestinal Microbiome , Tai Ji , Humans , Exercise , Students/psychology
18.
ACS Nano ; 18(2): 1449-1463, 2024 Jan 16.
Article in English | MEDLINE | ID: mdl-38175529

ABSTRACT

The discovery of high-entropy oxides (HEOs) in 2015 has provided a family of potential solid catalysts, due to their tunable components, abundant defects or lattice distorts, excellent thermal stability (ΔG↓ = ΔH - TΔS↑), and so on. When facing the heterogeneous catalysis by HEOs, the micrometer bulky morphology and low surface areas (e.g., <10 m2 g-1) by traditional synthesis methods obstructed their way. In this work, an electrospinning method to fabricate HEO nanofibers with diameters of 50-100 nm was demonstrated. The key point lay in the formation of one-dimensional filamentous precursors, during which the uniform dispersion of five metal species with disordered configuration would help to crystallize into single-phase HEOs at lower temperatures: inverse spinel (Cr0.2Mn0.2Co0.2Ni0.2Fe0.2)3O4 (400 °C), perovskite La(Mn0.2Cu0.2Co0.2Ni0.2Fe0.2)O3 (500 °C), spinel Ni0.2Mg0.2Cu0.2Mn0.2Co0.2)Al2O4 (550 °C), and cubic Ni0.2Mg0.2Cu0.2Zn0.2Co0.2O (750 °C). As a proof-of-concept, (Ni3MoCoZn)Al12O24 nanofiber exhibited good activity (CH4 Conv. > 96%, CO2 Conv. > 99%, H2/CO ≈ 0.98), long-time stability (>100 h) for the dry reforming of methane (DRM) at 700 °C without coke deposition, better than control samples (Ni3MoCoZn)Al12O24-Coprecipitation-700 (CH4 Conv. < 3%, CO2 Conv. < 7%). The reaction mechanism of DRM was studied by in situ infrared spectroscopy, CO2-TPD, and CO2/CH4-TPSR. This electrospinning method provides a synthetic route for HEO nanofibers for target applications.

19.
Plant Cell Environ ; 47(5): 1668-1684, 2024 May.
Article in English | MEDLINE | ID: mdl-38282271

ABSTRACT

Drought stress is one of the main environmental factors limiting plant growth and development. Plants adapt to changing soil moisture by modifying root architecture, inducing stomatal closure, and inhibiting shoot growth. The AP2/ERF transcription factor DREB2A plays a key role in maintaining plant growth in response to drought stress, but the molecular mechanism underlying this process remains to be elucidated. Here, it was found that overexpression of MdDREB2A positively regulated nitrogen utilisation by interacting with DRE cis-elements of the MdNIR1 promoter. Meanwhile, MdDREB2A could also directly bind to the promoter of MdSWEET12, which may enhance root development and nitrogen assimilation, ultimately promoting plant growth. Overall, this regulatory mechanism provides an idea for plants in coordinating with drought tolerance and nitrogen assimilation to maintain optimal plant growth and development under drought stress.


Subject(s)
Droughts , Plant Proteins , Plant Proteins/genetics , Plant Proteins/metabolism , Plants, Genetically Modified/metabolism , Promoter Regions, Genetic , Sucrose/metabolism , Gene Expression Regulation, Plant , Stress, Physiological/genetics
20.
Inflamm Bowel Dis ; 30(1): 64-77, 2024 Jan 05.
Article in English | MEDLINE | ID: mdl-36946138

ABSTRACT

BACKGROUND: Where head-to-head trials are lacking, indirect comparative effectiveness can aid treatment decisions. We conducted matching-adjusted indirect comparisons of clinical outcomes with filgotinib vs recently approved comparators (vedolizumab, tofacitinib, ustekinumab) in patients with moderately to severely active ulcerative colitis (UC). METHODS: Individual patient data from the SELECTION trial (NCT02914522) for filgotinib 200 mg were weighted to match average baseline characteristics of active treatment and placebo arms in comparator trials. Efficacy outcomes were compared for biologic-naive and biologic-experienced subgroups in induction and maintenance populations, if data were available. Safety and health-related quality of life outcomes were compared in the overall maintenance population. RESULTS: Filgotinib had a similar effect on efficacy outcomes compared with tofacitinib, ustekinumab, and subcutaneous vedolizumab in both the induction and maintenance populations. Filgotinib showed improved clinical response vs intravenous (IV) vedolizumab (odds ratio, 2.4; 95% confidence interval [CI], 1.0 to 5.5; P < .05) among the biologic-experienced induction population, and improved corticosteroid-free clinical remission (odds ratio, 15.2; 95% CI, 1.6 to 139.9; P < .05) among the biologic-naive maintenance population. Improved efficacy outcomes were reported with filgotinib compared with ustekinumab among the maintenance population. Higher estimates of serious adverse events were reported for filgotinib compared with vedolizumab IV 300 mg and tofacitinib 5 mg; however, imbalances were noted in their placebo groups. Health-related quality of life outcomes were similar between filgotinib and comparators. CONCLUSIONS: Matching-adjusted indirect comparison results suggest superiority of filgotinib 200 mg over vedolizumab IV in terms of clinical response and corticosteroid-free clinical remission in certain patient populations, noting small sample sizes and wide CIs, which may aid the selection of advanced therapies for moderately to severely active UC. A potential increased risk of serious adverse events was reported for filgotinib 200 mg vs vedolizumab IV and tofacitinib 5 mg, but findings should be interpreted with caution owing to underlying imbalances observed between the placebo groups of SELECTION and comparator trials.


Matching-adjusted indirect comparisons between filgotinib and subcutaneous vedolizumab, tofacitinib, and ustekinumab demonstrated similar effects on efficacy, safety, and health-related quality of life in patients with ulcerative colitis. Clinical response and corticosteroid-free remission were improved with filgotinib compared with intravenous vedolizumab.


Subject(s)
Biological Products , Colitis, Ulcerative , Humans , Colitis, Ulcerative/drug therapy , Ustekinumab/therapeutic use , Quality of Life , Biological Products/therapeutic use , Treatment Outcome
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