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1.
Artigo em Inglês | MEDLINE | ID: mdl-38832859

RESUMO

The genera Rhodobaca and Roseinatronobacter are phylogenetically related genera within the family Paracoccaceae. Species of these genera were described using 16S rRNA gene-based phylogeny and phenotypic characteristics. However, the 16S rRNA gene identity and phylogeny reveal the controversy of the taxonomic status of these two genera. In this work, we examined the taxonomic positions of members of both genera using 16S rRNA gene phylogeny, phylogenomic analysis and further validated using overall genome-related indexes, including digital DNA-DNA hybridization, average nucleotide identity, average amino acid identity and percentage of conserved proteins. Based on phylogenetic and phylogenomic results, the current four species of the two genera clustered tightly into one clade with high bootstrap values, suggesting that the genus Rhodobaca should be merged with Roseinatronobacter. In addition, a novel species isolated from a soda soil sample collected from Anda City, PR China, and designated as HJB301T was also described. Phenotypic, chemotaxonomic, genomic and phylogenetic properties suggested that strain HJB301T (=CCTCC AB 2021113T=KCTC 82977T) represents a novel species of the genus Roseinatronobacter, for which the name Roseinatronobacter alkalisoli sp. nov. is proposed.


Assuntos
Técnicas de Tipagem Bacteriana , DNA Bacteriano , Genoma Bacteriano , Hibridização de Ácido Nucleico , Filogenia , RNA Ribossômico 16S , Análise de Sequência de DNA , Microbiologia do Solo , RNA Ribossômico 16S/genética , DNA Bacteriano/genética , China , Composição de Bases , Ácidos Graxos
2.
Biochem Pharmacol ; : 116366, 2024 Jun 12.
Artigo em Inglês | MEDLINE | ID: mdl-38876260

RESUMO

Previous studies have demonstrated that Eyes Absent 4 (EYA4) influences the proliferation and migration of tumor cells. Notably, studies have established that EYA4 can also limit tumor sensitivity to chemotherapeutic agents. The objective of this study was to investigate the effect of EYA4 in conferring drug resistance in osteosarcoma (OS). Bioinformatics, histological, and cellular analyses revealed that the expression level of EYA4 was higher in OS tissues than in healthy tissues/cells and in resistant tissues/cells compared with sensitive tissues/cells. In vitro and in vivo experiments demonstrated that EYA4 knockdown increased the sensitivity of OS to doxorubicin (DOX). Conversely, overexpression of EYA4 decreased the sensitivity of OS to DOX. Exploration of the resistance mechanism exposed that EYA4 facilitates DNA double-strand break (DSB) repair, a typical mode of DNA damage repair (DDR). Subsequently, our findings indicated that EYA4 could directly interact with histone H2AX to activate the DDR pathway. Taken together, our observations indicated that EYA4 may serve as a target molecule for reversing drug resistance in OS patients.

3.
Carbohydr Polym ; 341: 122353, 2024 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-38876720

RESUMO

The use of Pickering emulsions for biocatalysis is gaining increased attention. However, the extensive application is greatly limited due to the enzyme inactivation. Herein, a biocatalytic Pickering emulsion with high-performance utilizing cellulose nanocrystals immobilized lipases (CNCs-Lps) particles as stabilizer is advanced and applied for the synthesis of Vitamin E nicotinate. CNCs-Lps display high activity and reusability due to the construction of biocatalytic microreactor in the O/W emulsion system. The yield of vitamin E nicotinate ester reached up to 83 %. More importantly, the CNCs-Lps can be reused due to the similar principles to microreactors in Pickering emulsions. Reusability test showed that the CNCs-Lps could be recovered from the emulsion system by centrifugation and the yield of vitamin E nicotinate retains 78 % of initial value after five cycles, demonstrating overwhelming advantage than the fair counterpart with free lipases.


Assuntos
Biocatálise , Celulose , Emulsões , Enzimas Imobilizadas , Lipase , Nanopartículas , Celulose/química , Emulsões/química , Lipase/química , Lipase/metabolismo , Nanopartículas/química , Enzimas Imobilizadas/química , Enzimas Imobilizadas/metabolismo , Vitamina E/química
4.
Artigo em Inglês | MEDLINE | ID: mdl-38870528

RESUMO

OBJECTIVES: To evaluate magnetic susceptibility artefacts produced by orthodontic wires on MRI and the influence of wire properties and MRI image sequences on the magnitude of the artefact. METHODS: Arch form orthodontic wires [four stainless steels (SS), one cobalt chromium (CC) alloy, 13 titanium (Ti) alloys] were embedded in a polyester phantom, and scanned using a 1.5-T superconducting magnet scanner with an eight-channel phased-array coil. All wires were scanned with T1-weighted spin echo (SE) and gradient echo (GRE) sequences according to the American Society for Testing and Materials (ASTM) F2119-07 standard. The phantom was also scanned other eight sequences. Artefacts were measured using the ASTM F2119-07 definition and OsiriX software. Artefact volume was analyzed according to metal composition, wire length, number of wires, wire thickness, and imaging sequence as factors. RESULTS: With SE/GRE, black/white artefacts volumes from all SS wires were significantly larger than those produced by CC and Ti wires (P < 0.01). With the GRE, the black artefacts volume was highest with the SS wires. With the SE, the black artefacts volume was small, whereas white artefacts were noticeable. The cranio-caudal extent of the artefacts was significantly longer with SS wires (P < 0.01). Although a direct relationship of wire length, number of wires and wire thickness with artefact volume was noted, these factors did not influence artefact extension in the cranio-caudal direction. CONCLUSIONS: Ferromagnetic/paramagnetic orthodontic wires create artefacts due to local alteration of magnetic field homogeneity. The SS-type wires produced the largest artefacts followed by CC and Ti.

5.
Nature ; 2024 Jun 12.
Artigo em Inglês | MEDLINE | ID: mdl-38867046

RESUMO

Broken time-reversal symmetry in the absence of spin order indicates the presence of unusual phases such as orbital magnetism and loop currents1-4. The recently discovered kagome superconductors AV3Sb5 (where A is K, Rb or Cs)5,6 display an exotic charge-density-wave (CDW) state and have emerged as a strong candidate for materials hosting a loop current phase. The idea that the CDW breaks time-reversal symmetry7-14 is, however, being intensely debated due to conflicting experimental data15-17. Here we use laser-coupled scanning tunnelling microscopy to study RbV3Sb5. By applying linearly polarized light along high-symmetry directions, we show that the relative intensities of the CDW peaks can be reversibly switched, implying a substantial electro-striction response, indicative of strong nonlinear electron-phonon coupling. A similar CDW intensity switching is observed with perpendicular magnetic fields, which implies an unusual piezo-magnetic response that, in turn, requires time-reversal symmetry breaking. We show that the simplest CDW that satisfies these constraints is an out-of-phase combination of bond charge order and loop currents that we dub a congruent CDW flux phase. Our laser scanning tunnelling microscopy data open the door to the possibility of dynamic optical control of complex quantum phenomenon in correlated materials.

6.
Curr Eye Res ; : 1-7, 2024 Jun 12.
Artigo em Inglês | MEDLINE | ID: mdl-38867491

RESUMO

PURPOSE: To evaluate curvature changes in different regions and their correlation with corneal epithelial remodeling in myopic patients undergoing femtosecond laser-assisted in situ keratomileusis (FS-LASIK) and transepithelial refractive keratectomy (Trans-PRK) after surgery. METHODS: One hundred and sixty-three patients (163 right eyes) undergoing Trans-PRK and LASIK were evaluated for up to 6 months using anterior segment optical coherence tomography (OCT) to measure the epithelial thickness and corneal topography to measure corneal curvature in different areas (2 mm, 5 mm, and 7 mm). We calculated the curvature ΔK (ΔK = preoperative - postoperative), ΔK5-2 (ΔK5-2 = K5mm - K2mm), ΔK7-5 (ΔK7-5 = K7mm - K5mm), and the epithelial thickness ΔET5-2 (ΔET5-2 = ET5mm - ET2mm) and ΔET7-5 (ΔET7-5= ET7mm - ET5mm). RESULTS: Corneal curvature flattened in each region of the two groups (all p < 0.001) and gradually steepened during the follow-up period. The Trans-PRK group flattened more significantly within 2 mm and 5 mm, while the FS-LASIK group at 7 mm. Both groups of ΔK decreased over time. Both groups of ΔK5-2 and ΔK7-5 gradually decreased during the follow-up period (P5-2=0.025 and P7-5 < 0.001 for Trans-PRK, P5-2 = 0.011 and P7-5 < 0.001 for FS-LASIK). The corneal epithelium of the two groups gradually thickened during the follow-up period, with Trans-PRK significantly thickening in the central and peripheral regions and FS-LASIK in the central and paracentral regions. There is a significant correlation between the ΔK5-2 and ΔET5-2, ΔK7-5 and ΔET7-5 (all r > 0.37, p < 0.001). CONCLUSIONS: All groups showed significant curvature flattening after surgery and gradually steepening during the follow-up period. The corneal epithelium thickness in both groups of 17 regions became thicker,. In contrast, Trans-PRK group showed more significant thickening to the periphery and the central 5 mm area of the FS-LASIK. This study indicates a significant positive correlation between differences in epithelial thickening in different regions and differences in curvature changes in the corresponding areas PRK, FS-LASIK, curvature, corneal epithelial thickness.

7.
Food Funct ; 2024 Jun 13.
Artigo em Inglês | MEDLINE | ID: mdl-38869011

RESUMO

In the present study, sensory orientation and instrumental analysis were employed to separate, purify, and identify umami peptides in Agrocybe aegerita hydrolysate. Using UPLC-ESI-Q-TOF MS, 11 potential umami peptides (EY, EG, EV, ENG, PEG, DEL, ECG, DDL, PEEL, EDCS and DGPL) were identified from the screened fractions. Moreover, sensory evaluation and E-tongue results showed that the identified umami peptides had umami attributes, within an umami threshold range of 0.0625-0.25 mg mL-1. In addition, DDL and DEL exhibited the highest umami flavor intensity. Molecular docking analysis further showed that 4 umami peptides (namely, EY, EG, ECG, and DGPL) entered the T1R1 cavity of the umami receptor. Additionally, 4 umami peptides (namely, EV, ENG, DEL, and EDCS) could be embedded in the binding pocket of the T1R3 cavity. Furthermore, 3 umami peptides (PEG, DDL, and PEEL) strongly interacted with T1R1/T1R3. Thus, the findings collectively indicated that the predominant interacting forces between umami peptide and umami receptor are hydrogen bonding and hydrophobic interactions. Finally, it was shown that the primary binding sites of T1R1 were residues Ser109, Gln52 and Ser148, while the primary binding sites of T1R3 were residues Ser172, Arg277 and Ala170. The study identified the umami peptides in A. aegerita for the first time, which provided more information for the umami research of A. aegerita and provided the theoretical basis for the further development and utilization of A. aegerita.

8.
J Virol ; : e0058524, 2024 Jun 13.
Artigo em Inglês | MEDLINE | ID: mdl-38869319

RESUMO

Senecavirus A (SVA), a picornavirus, causes vesicular diseases and epidemic transient neonatal losses in swine, resulting in a multifaceted economic impact on the swine industry. SVA counteracts host antiviral response through multiple strategies facilitatng viral infection and transmission. However, the mechanism of how SVA modulates interferon (IFN) response remains elusive. Here, we demonstrate that SVA 3C protease (3Cpro) blocks the transduction of Janus kinase-signal transducer and activator of transcription (JAK-STAT) signaling pathway to antagonize type I IFN response. Mechanistically, 3Cpro selectively cleaves and degrades STAT1 and STAT2 while does not target JAK1, JAK2, and IRF9, through its protease activity. Notably, SVA 3Cpro cleaves human and porcine STAT1 on a Leucine (L)-Aspartic acid (D) motif, specifically L693/D694. In the case of STAT2, two cleavage sites were identified: glutamine (Q) 707 was identified in both human and porcine, while the second cleavage pattern differed, with residues 754-757 (Valine-Leucine-Glutamine-Serine motifs) in human STAT2 and Q758 in porcine STAT2. These cleavage patterns by SVA 3Cpro partially differ from previously reported classical motifs recognized by other picornaviral 3Cpro, highlighting the distinct characteristics of SVA 3Cpro. Together, these results reveal a mechanism by which SVA 3Cpro antagonizes IFN-induced antiviral response but also expands our knowledge about the substrate recognition patterns for picornaviral 3Cpro.IMPORTANCESenecavirus A (SVA), the only member in the Senecavirus genus within the Picornaviridae family, causes vesicular diseases in pigs that are clinically indistinguishable from foot-and-mouth disease (FMD), a highly contagious viral disease listed by the World Organization for Animal Health (WOAH). Interferon (IFN)-mediated antiviral response plays a pivotal role in restricting and controlling viral infection. Picornaviruses evolved numerous strategies to antagonize host antiviral response. However, how SVA modulates the JAK-STAT signaling pathway, influencing the type I IFN response, remains elusive. Here, we identify that 3Cpro, a protease of SVA, functions as an antagonist for the IFN response. 3Cpro utilizes its protease activity to cleave STAT1 and STAT2, thereby diminishing the host IFN response to promote SVA infection. Our findings underscore the significance of 3Cpro as a key virulence factor in the antagonism of the type I signaling pathway during SVA infection.

9.
Front Pharmacol ; 15: 1367686, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38860175

RESUMO

Background: The therapeutic effects of vitamin D supplementation on Coronavirus disease 2019 (COVID-19) aggravation remain controversial and inconclusive. To probe into this contentious issue, we performed the present meta-analysis of randomized controlled trials (RCTs). Methods: Literature published up to June 2023 was retrieved from Cochrane Library, PubMed, Web of Science and Embase. RCTs assessing mortality, intensive care unit (ICU) admission, mechanical ventilation (MV), length of hospitalization (LOH), and inflammatory markers containing C-reactive protein (CRP), D-dimer, interleukin-6 (IL-6), lactate dehydrogenase (LDH) were included. 19 RCTs were involved in the analysis and were conducted subgroup analyses on the baseline COVID-19 severity and vitamin D administration. Results: In the severity subgroup, statistically significant effects in moderate to severe group were observed in ICU admission (OR 0.43, 95% CI 0.23, 0.80; p = 0.008), MV (OR 0.44, 95% CI 0.27, 0.72; p = 0.001) and LOH (SMD -0.49, 95% CI -0.92, -0.06; p = 0.027). In the administration subgroup, effects of ICU admission (OR 0.39, 95% CI 0.16, 0.97; p = 0.044), MV (OR 0.18, 95% CI 0.07, 0.46; p = 0.000) and LOH (SMD -0.50, 95% CI -0.96, -0.04; p = 0.034) were more pronounced in patients supplied with multiple-dose vitamin D than single-dose. Although the result of mortality showed no statistically significant effect, it indicated a reduced trend (OR 0.87, 95% CI 0.63, 1.12; p > 0.05). The results of inflammatory markers reached no statistical differences. Conclusion: This meta-analysis revealed that moderate to severe COVID-19 patients supplied with multiple doses of vitamin D were less apt to need ICU admission, mechanical ventilation and have shorter hospital stays.

10.
Biomaterials ; 311: 122659, 2024 Jun 07.
Artigo em Inglês | MEDLINE | ID: mdl-38861831

RESUMO

Pathogenic infection leads to excessive senescent cell accumulation and stagnation of wound healing. To address these issues, we devise and develop a hydrogen selenide (H2Se)-evolving bio-heterojunction (bio-HJ) composed of graphene oxide (GO) and FeSe2 to deracinate bacterial infection, suppress cellular senescence and remedy recalcitrant infected wounds. Excited by near-infrared (NIR) laser, the bio-HJ exerts desired photothermal and photodynamic effects, resulting in rapid disinfection. The crafted bio-HJ could also evolve gaseous H2Se to inhibit cellular senescence and dampen inflammation. Mechanism studies reveal the anti-senescence effects of H2Se-evolving bio-HJ are mediated by selenium pathway and glutathione peroxidase 1 (GPX1). More critically, in vivo experiments authenticate that the H2Se-evolving bio-HJ could inhibit cellular senescence and potentiate wound regeneration in rats. As envisioned, our work not only furnishes the novel gasotransmitter-delivering bio-HJ for chronic infected wounds, but also gets insight into the development of anti-senescence biomaterials.

11.
Nat Commun ; 15(1): 5040, 2024 Jun 12.
Artigo em Inglês | MEDLINE | ID: mdl-38866786

RESUMO

Direct chemical vapor deposition (CVD) growth of graphene on dielectric/insulating materials is a promising strategy for subsequent transfer-free applications of graphene. However, graphene growth on noncatalytic substrates is faced with thorny issues, especially the limited growth rate, which severely hinders mass production and practical applications. Herein, graphene glass fiber fabric (GGFF) is developed by graphene CVD growth on glass fiber fabric. Dichloromethane is applied as a carbon precursor to accelerate graphene growth, which has a low decomposition energy barrier, and more importantly, the produced high-electronegativity Cl radical can enhance adsorption of active carbon species by Cl-CH2 coadsorption and facilitate H detachment from graphene edges. Consequently, the growth rate is increased by ~3 orders of magnitude and carbon utilization by ~960-fold, compared with conventional methane precursor. The advantageous hierarchical conductive configuration of lightweight, flexible GGFF makes it an ultrasensitive pressure sensor for human motion and physiological monitoring, such as pulse and vocal signals.

12.
Biomed Environ Sci ; 37(5): 471-478, 2024 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-38843920

RESUMO

Objective: Little is known about the association between whole-blood nicotinamide adenine dinucleotide (NAD +) levels and nabothian cysts. This study aimed to assess the association between NAD + levels and nabothian cysts in healthy Chinese women. Methods: Multivariate logistic regression analysis was performed to analyze the association between NAD + levels and nabothian cysts. Results: The mean age was 43.0 ± 11.5 years, and the mean level of NAD + was 31.3 ± 5.3 µmol/L. Nabothian cysts occurred in 184 (27.7%) participants, with single and multiple cysts in 100 (15.0%) and 84 (12.6%) participants, respectively. The total nabothian cyst prevalence gradually decreased from 37.4% to 21.6% from Q1 to Q4 of NAD + and the prevalence of single and multiple nabothian cysts also decreased across the NAD + quartiles. As compared with the highest NAD + quartile (≥ 34.4 µmol/L), the adjusted odds ratios with 95% confidence interval of the NAD + Q1 was 1.89 (1.14-3.14) for total nabothian cysts. The risk of total and single nabothian cysts linearly decreased with increasing NAD + levels, while the risk of multiple nabothian cysts decreased more rapidly at NAD + levels of 28.0 to 35.0 µmol/L. Conclusion: Low NAD + levels were associated with an increased risk of total and multiple nabothian cysts.


Assuntos
NAD , Humanos , Feminino , Adulto , Pessoa de Meia-Idade , NAD/sangue , NAD/metabolismo , Cistos/sangue , Cistos/epidemiologia , China/epidemiologia
13.
Int J Surg ; 2024 Jun 07.
Artigo em Inglês | MEDLINE | ID: mdl-38847780

RESUMO

BACKGROUND: To investigate the association between body mass index (BMI) and the incidence of ischemic stroke in patients with symptomatic artery occlusion, and further to evaluate the utility of BMI as a screening tool for identifying candidates for extracranial-intracranial bypass surgery. MATERIALS AND METHODS: We analyzed the relationship between BMI and the occurrence of ipsilateral ischemic stroke (IIS) among patients receiving only medical management in the Carotid or Middle cerebral artery Occlusion Surgery Study (CMOSS). Additionally, we compared the primary endpoint of CMOSS-stroke or death within 30 days, or IIS after 30 days up to two years-among patients with varying BMIs who underwent either surgery or medical treatment. RESULTS: Of the 165 patients who treated medically only, 16 (9.7%) suffered an IIS within two years. BMI was independently associated with the incidence of IIS (hazard ratio: 1.16 per kg/m2; 95% confidence interval: 1.06-1.27). The optimal BMI cutoff for predicting IIS was 24.5 kg/m2. Patients with BMI ≥24.5 kg/m2 experienced a higher incidence of IIS compared to those with BMI <24.5 kg/m2 (17.4% vs. 0.0%, P<0.01). The incidence of the CMOSS primary endpoint was significantly different between the surgical and medical groups for patients with BMI ≥24.5 kg/m2 (5.3% vs. 19.8%, P<0.01) and those with BMI <24.5 kg/m2 (10.6% vs. 1.4%; P=0.02). Surgical intervention was independently associated with a reduced rate of the CMOSS primary endpoint in patients with BMI ≥24.5 kg/m2. CONCLUSION: Data from the CMOSS trial indicate that patients with BMI ≥24.5 kg/m2 are at a higher risk of IIS when treated medically only and appear to derive greater benefit from bypass surgery compared to those with lower BMIs. Given the small sample size and the inherent limitations of retrospective analyses, further large-scale, prospective studies are necessary to confirm these findings.

14.
Biotechnol Lett ; 2024 Jun 07.
Artigo em Inglês | MEDLINE | ID: mdl-38847981

RESUMO

Sucrose isomerase (SIase) catalyzes the hydrolysis and isomerization of sucrose to form isomaltulose, a valuable functional sugar widely used in the food industry. However, the lack of safe and efficient heterologous expression systems hinders SIase production and application. In this study, we achieved antibiotic-free SIase expression in Bacillus subtilis through genome integration. Using CRISPR/Cas9 system, SIase expression cassettes were integrated into various genomic loci, including amyE and ctc, both individually and in combination, resulting in single-copy and muti-copy integration strains. Engineered strains with a maltose-inducible promoter effectively expressed and secreted SIase. Notably, multi-copy strain exhibited enhanced SIase production, achieving 4.4 U/mL extracellular activity in shake flask cultivations. Furthermore, crude enzyme solution from engineered strain transformed high concentrations sucrose into high yields of isomaltulose, reaching a maximum yield of 94.6%. These findings demonstrate antibiotic-free SIase production in B. subtilis via genome integration, laying the foundation for its industrial production and application.

15.
Artigo em Inglês | MEDLINE | ID: mdl-38848032

RESUMO

PURPOSE: In pathology images, different stains highlight different glomerular structures, so a supervised deep learning-based glomerular instance segmentation model trained on individual stains performs poorly on other stains. However, it is difficult to obtain a training set with multiple stains because the labeling of pathology images is very time-consuming and tedious. Therefore, in this paper, we proposed an unsupervised stain augmentation-based method for segmentation of glomerular instances. METHODS: In this study, we successfully realized the conversion between different staining methods such as PAS, MT and PASM by contrastive unpaired translation (CUT), thus improving the staining diversity of the training set. Moreover, we replaced the backbone of mask R-CNN with swin transformer to further improve the efficiency of feature extraction and thus achieve better performance in instance segmentation task. RESULTS: To validate the method presented in this paper, we constructed a dataset from 216 WSIs of the three stains in this study. After conducting in-depth experiments, we verified that the instance segmentation method based on stain augmentation outperforms existing methods across all metrics for PAS, PASM, and MT stains. Furthermore, ablation experiments are performed in this paper to further demonstrate the effectiveness of the proposed module. CONCLUSION: This study successfully demonstrated the potential of unsupervised stain augmentation to improve glomerular segmentation in pathology analysis. Future research could extend this approach to other complex segmentation tasks in the pathology image domain to further explore the potential of applying stain augmentation techniques in different domains of pathology image analysis.

16.
JAMA Netw Open ; 7(6): e2415084, 2024 Jun 03.
Artigo em Inglês | MEDLINE | ID: mdl-38837156

RESUMO

Importance: Global developmental delay (GDD) is characterized by a complex etiology, diverse phenotypes, and high individual heterogeneity, presenting challenges for early clinical etiologic diagnosis. Cognitive impairment is the core symptom, and despite the pivotal role of genetic factors in GDD development, the understanding of them remains limited. Objectives: To assess the utility of genetic detection in patients with GDD and to examine the potential molecular pathogenesis of GDD to identify targets for early intervention. Design, Setting, and Participants: This multicenter, prospective cohort study enrolled patients aged 12 to 60 months with GDD from 6 centers in China from July 4, 2020, to August 31, 2023. Participants underwent trio whole exome sequencing (trio-WES) coupled with copy number variation sequencing (CNV-seq). Bioinformatics analysis was used to unravel pathogenesis and identify therapeutic targets. Main Outcomes and Measures: The main outcomes of this study involved enhancing the rate of positive genetic diagnosis for GDD, broadening the scope of genetic testing indications, and investigating the underlying pathogenesis. The classification of children into levels of cognitive impairment was based on the developmental quotient assessed using the Gesell scale. Results: The study encompassed 434 patients with GDD (262 [60%] male; mean [SD] age, 25.75 [13.24] months) with diverse degrees of cognitive impairment: mild (98 [23%]), moderate (141 [32%]), severe (122 [28%]), and profound (73 [17%]). The combined use of trio-WES and CNV-seq resulted in a 61% positive detection rate. Craniofacial abnormalities (odds ratio [OR], 2.27; 95% CI, 1.45-3.56), moderate or severe cognitive impairment (OR, 1.69; 95% CI, 1.05-2.70), and age between 12 and 24 months (OR, 1.57; 95% CI, 1.05-2.35) were associated with a higher risk of carrying genetic variants. Additionally, bioinformatics analysis suggested that genetic variants may induce alterations in brain development and function, which may give rise to cognitive impairment. Moreover, an association was found between the dopaminergic pathway and cognitive impairment. Conclusions and Relevance: In this cohort study of patients with GDD, combining trio-WES with CNV-seq was a demonstrable, instrumental strategy for advancing the diagnosis of GDD. The close association among genetic variations, brain development, and clinical phenotypes contributed valuable insights into the pathogenesis of GDD. Notably, the dopaminergic pathway emerged as a promising focal point for potential targets in future precision medical interventions for GDD.


Assuntos
Deficiências do Desenvolvimento , Testes Genéticos , Humanos , Deficiências do Desenvolvimento/genética , Deficiências do Desenvolvimento/diagnóstico , Masculino , Feminino , Pré-Escolar , Testes Genéticos/métodos , Testes Genéticos/estatística & dados numéricos , Lactente , Estudos Prospectivos , Sequenciamento do Exoma/métodos , China/epidemiologia , Variações do Número de Cópias de DNA/genética , Disfunção Cognitiva/genética , Disfunção Cognitiva/diagnóstico
18.
Heliyon ; 10(11): e31867, 2024 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-38845945

RESUMO

Purpose: To identify the biometric factors associated with postoperative visual performance after uneventful phacoemulsification with multifocal intraocular lens (MIOL) implantation. Methods: In this retrospective cohort study, 72 eyes of 72 patients implanted with the HumanOptics Diff-aAY MIOL were included. Preoperative examination data including the white-to-white distance (WTW), anterior chamber depth (ACD), axial length and corneal astigmatism were gathered through the electronic medical records. One month postoperatively, the pupil parameters, corneal aberrations, corneal astigmatism, IOL tilts and IOL decentrations were measured using an OPD-Scan III aberrometer. Postoperative visual performance parameters were recorded as the visual acuity, depth of focus, modulation transfer function (MTF) and point spread function (PSF) values, area under log contrast sensitivity function (AULCSF), retinal straylight and visual function questionnaire scores. Univariate and multivariate linear regression analyses were then performed to evaluate the associations between the potential biometric factors and postoperative visual outcomes. Results: Younger age predicted greater MTF and PSF values, better AULCSF and better retinal straylight (P < 0.05). A lower corneal trefoil predicted better MTF and PSF values (P < 0.05). Smaller IOL decentration predicted better distance-corrected near visual acuity, greater AULCSF and better retinal straylight (P < 0.05). A less negative spherical equivalent (SE) predicted better MTF values (P = 0.017), while a more negative SE predicted better Visual Function Index-14 (VF-14) questionnaire scores and satisfaction scores (P < 0.05). A higher IOL power predicted better best corrected distance visual acuity (P = 0.005). Lower preoperative corneal astigmatism predicted greater MTF values (P = 0.020). Lower postoperative corneal astigmatism, smaller corneal high-order aberrations (HOAs), smaller photopic pupil size, larger WTW and deeper ACD predicted a better AULCSF (P < 0.05). Conclusions: IOL decentration, IOL power, age, preoperative and postoperative corneal astigmatism, SE, photopic pupil size, corneal trefoil, WTW, ACD and corneal HOAs were significantly associated with postoperative visual performance. These findings might aid in patient selection prior to MIOL implantation.

19.
J Org Chem ; 2024 Jun 02.
Artigo em Inglês | MEDLINE | ID: mdl-38825808

RESUMO

In this study, we systematically investigated the regioselective glycosylation of 2,4-OH mannoside and galactoside acceptors since regioselective protection of their 3- and 6-OHs is readily achieved. By altering the protecting groups at 1-, 3-, and 6-positions of such acceptors, we finally screened p-methoxyphenyl 3-OBn, 6-OTBDPS, α-mannoside, and ß-galactoside acceptors whose 2-OHs exhibited excellent selectivity for glycosylation with various glycosyl donors, leading to 1,2-linked products in 70-82% yields. By utilizing such acceptors, a series of 2,4-linked trisaccharide products (53-65% yields over two steps) have been highly efficiently synthesized without the need for complex protection/deprotection operations at the 2- and 4-positions of these acceptors.

20.
Heliyon ; 10(10): e31408, 2024 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-38826753

RESUMO

Nowadays, a wide variety of labels of items are widely available, and human consumption is increasingly tailored to meet their individual needs. So, many businesses are starting to focus on improving the functionality of modern packaging. Sensorial paradigms and emotional reactions could change during the user-product interaction lifecycle. The designer's emotional imagination and past experiences are the backbone of conventional product package design, which has limitations due to unmanageable content and an absence of professional advice-the majority of previous research on emotional image analysis aimed to forecast the most common viewer emotions. Since the feelings a picture evokes are quite individual and vary from viewer to viewer, this overarching feeling isn't always enough for practical uses. The research presented an approach to packaging design evaluation based on image emotion perception computing (PDE-IEPC), which combines emotion perception technology with a deep LSTM (Long short-term model), resulting in an immersive and dynamic experience for the human senses. Emotion Perception Computing's Dynamic Multi-task Hypergraph Learning (DMHL) approach considers graphical data, social context, spatial evolution, and location, among other criteria, to evaluate packaging designs efficiently based on their emotional impact. Image-Emotion-Social-Net is a large dataset used to evaluate multidimensional and categorical attitude representation. The dataset is sourced from Flickr and contains over 1 million images presented by over 9000 users. Personalized emotion categorization is an area where research on this dataset shows that the suggested strategy outperforms many modern techniques. The experimental results show that the proposed method achieves a high packaging design quality rate of 94.1 %, a performance success rate of 97.5 %, and a mean square error rate of 2 % compared to other existing methods.

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