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1.
Spectrochim Acta A Mol Biomol Spectrosc ; 324: 124956, 2025 Jan 05.
Artigo em Inglês | MEDLINE | ID: mdl-39151398

RESUMO

A new and rare Salamo-Co(II) complex probe L-Co2+ was designed and synthesised. The structure of the [Co3(L)2(µ-OAc)2(MeOH)2]⋅2H2O complex was obtained by X-ray diffraction experiments. Three Co(II) atoms are in a line in the complex, and all Co(II) atoms form a 6-coordinated octahedral configuration. The probe L-Co2+ selectively recognises tyrosine in DMF/H2O (8:2, v/v). Upon addition of tyrosine, the fluorescence intensity of L-Co2+ was enhanced in a short time. The probe showed high selectivity and sensitivity for tyrosine, detection limit is 4.27 × 10-8 M. The recognition mechanism of probe L-Co2+ for Tyr was inferred by FT-IR spectra, UV spectroscopy, ESI mass spectra and DFT calculations. Finally, due to the simplicity and specificity of the identification process, the probe was also subjected to a test paper experiment and a milk assay.

2.
J Fish Biol ; 2024 Sep 05.
Artigo em Inglês | MEDLINE | ID: mdl-39235098

RESUMO

In fish species, there is limited analysis of signature transcriptome profiles at the single-cell level in gonadal cells. Here, the molecular signatures of distinct ovarian cell categories in adult Nile tilapia (Oreochromis niloticus) were analysed using single-nucleus RNA sequencing (snRNA-seq). We identified four cell types (oogonia, oocytes, granulosa cell, and thecal cell) based on their specifically expressed genes and biological functions. Similarly, we found some key pathways involved in ovarian development that may affect germline-somatic interactions. A cell-to-cell communication network between the distinct cell types was constructed. We found that the bidirectional communication is mandatory for the development of germ cells and somatic cells in fish ovaries, and the granulosa cells and thecal cells play a central regulating role in the cell network in fish ovary. Additionally, we identified some novel candidate marker genes for various types of ovarian cells and also validated them using in situ hybridization. Our work reveals an ovarian atlas at the cellular and molecular levels and contributes to providing insights into oogenesis and gonad development in fish.

3.
World J Gastrointest Surg ; 16(7): 2031-2039, 2024 Jul 27.
Artigo em Inglês | MEDLINE | ID: mdl-39087122

RESUMO

BACKGROUND: The consistency of pancreatic apparent diffusion coefficient (ADC) values and intravoxel incoherent motion (IVIM) parameter values across different magnetic resonance imaging (MRI) devices significantly impacts the patient's diagnosis and treatment. AIM: To explore consistency in image quality, ADC values, and IVIM parameter values among different MRI devices in pancreatic examinations. METHODS: This retrospective study was approved by the local ethics committee, and informed consent was obtained from all participants. In total, 22 healthy volunteers (10 males and 12 females) aged 24-61 years (mean, 28.9 ± 2.3 years) underwent pancreatic diffusion-weighted imaging using 3.0T MRI equipment from three vendors. Two independent observers subjectively scored image quality and measured the pancreas's overall ADC values and signal-to-noise ratios (SNRs). Subsequently, regions of interest (ROIs) were delineated for the IVIM parameters (true diffusion coefficient, pseudo-diffusion coefficient, and perfusion fraction) using post-processing software. These ROIs were on the head, body, and tail of the pancrease. The subjective image ratings were assessed using the kappa consistency test. Intraclass correlation coefficients (ICCs) and mixed linear models were used to evaluate each device's quantitative parameter values. Finally, a pairwise analysis of IVIM parameter values across each device was performed using Bland-Altman plots. RESULTS: The Kappa value for the subjective ratings of the different observers was 0.776 (P < 0.05). The ICC values for inter-observer and intra-observer agreements for the quantitative parameters were 0.803 [95% confidence interval (CI): 0.684-0.880] and 0.883 (95%CI: 0.760-0.945), respectively (P < 0.05). The ICCs for the SNR between different devices was comparable (P > 0.05), and the ICCs for the ADC values from different devices were 0.870, 0.707, and 0.808, respectively (P < 0.05). Notably, only a few statistically significant inter-device agreements were observed for different IVIM parameters, and among those, the ICC values were generally low. The mixed linear model results indicated differences (P < 0.05) in the f-value for the pancreas head, D-value for the pancreas body, and D-value for the pancreas tail obtained using different MRI machines. The Bland-Altman plots showed significant variability at some data points. CONCLUSION: ADC values are consistent among different devices, but the IVIM parameters' repeatability is moderate. Therefore, the variability in the IVIM parameter values may be associated with using different MRI machines. Thus, caution should be exercised when using IVIM parameter values to assess the pancreas.

4.
Zhonghua Nan Ke Xue ; 30(6): 507-513, 2024 Jun.
Artigo em Chinês | MEDLINE | ID: mdl-39212359

RESUMO

OBJECTIVE: To investigate the risk factors affecting the prognosis of penile cancer after surgery. METHODS: We retrospectively analyzed the clinical data on 112 cases of penile cancer treated in Weifang People's Hospital from January 2013 to December 2023. Using the Kaplan-Meier survival curve, χ2 test, Fisher's exact test, and univariate and multivariate Cox risk regression analyses, we compared the clinical characteristics among different groups, and determined the independent prognostic risk factors for cancer-specific survival (CSS) of the patients. RESULTS: The 1-, 3- and 5-year CSS rates of the penile cancer patients were 78.2%, 66.1% and 63.7%, respectively. Kaplan-Meier analysis indicated a significant correlation of a higher neutrophil-to-lymphocyte ratio (NLR) with a lower CSS rate (P < 0.001). Multivariate Cox regression analysis showed high NLR (HR = 2.6; 95% CI: 1.031-6.558; P = 0.043) to be an independent risk factor for CSS. CONCLUSION: Preoperative NLR is an independent risk factor for the prognosis of penile cancer. In addition, older age, farmer or worker occupation, lower education, preoperative lymphocyte-to-monocyte ratio (LMR)≤2.81, preoperative fibrinogen (FIB)≥3.41 g/L, advanced tumor stage and tumor differentiation are associated with the poor prognosis the malignancy.


Assuntos
Neutrófilos , Neoplasias Penianas , Humanos , Masculino , Neoplasias Penianas/cirurgia , Estudos Retrospectivos , Prognóstico , Fatores de Risco , Linfócitos , Período Pós-Operatório , Taxa de Sobrevida , Estimativa de Kaplan-Meier , Modelos de Riscos Proporcionais , Pessoa de Meia-Idade
5.
Int J Cosmet Sci ; 2024 Aug 09.
Artigo em Inglês | MEDLINE | ID: mdl-39119798

RESUMO

OBJECTIVE: The objective is to develop a natural and stable anti-oxidative stress and anti-ageing ingredient. In this study, we evaluated the changes in white tea leaves fermented with Eurotium cristatum PLT-PE and Saccharomyces boulardii PLT-HZ and their efficacy against skin oxidative stress. METHODS: We employed untargeted metabolomics technology to analyse the differential metabolites between tea extract (TE) and fermented tea extract (FTE). In vitro, using H2O2-induced HaCaT cells, we evaluated cell vitality, ROS, and inflammatory factors (TNF-α, IL-1ß, and IL-6). Additionally, we verified the effects on the extracellular matrix and nuclear DNA using fibroblasts or reconstructed skin models. We measured skin hydration, elasticity, wrinkle area, wrinkle area ratio, erythema area, and erythema area ratio in volunteers after using an emulsion containing 3% FTE for 28 and 56 days. RESULTS: Targeted metabolomics analysis of white tea leaves yielded more than 20 differential metabolites with antioxidant and anti-inflammatory activities, including amino acids, polypeptides, quercetin, and liquiritin post-fermentation. FTE, compared to TE, can significantly reduce reactive oxygen species (ROS) and protect against oxidative stress-induced skin damage in H2O2-induced HaCaT cells. FTE can inhibit H2O2-induced collagen degradation by suppressing the MAPK/c-Jun signalling pathway and can also mitigate the reactive oxygen species damage to nuclear DNA. Clinical studies showed that the volunteers' stratum corneum water content, skin elasticity, wrinkle area, wrinkle area ratio, erythema area, and erythema area ratio significantly improved from the baseline after 28 and 56 days of FTE use. CONCLUSION: This study contributes to the growing body of literature supporting the protective effects against skin oxidative stress and ageing from fermented plant extracts. Moreover, our findings might inspire multidisciplinary efforts to investigate new fermentation techniques that could produce even more potent anti-ageing solutions.


OBJECTIF: L'objectif est de développer un ingrédient naturel et stable contre le stress oxydatif et anti­âge. Dans cette étude, nous avons évalué les modifications dans les feuilles de thé blanc fermentées avec la PLT­PE Eurotium cristatum et la PLT­HZ Saccharomyces boulardii et leur efficacité contre le stress oxydatif cutané. MÉTHODES: Nous avons utilisé une technologie de métabolomique non ciblée pour analyser les métabolites différentiels entre l'extrait de thé (ET) et l'extrait de thé fermenté (ETF). In vitro, à l'aide de cellules HaCaT induites par l'H2O2, nous avons évalué la vitalité cellulaire, les ERO et les facteurs inflammatoires (TNF­α, IL­1ß, and IL­6). Nous avons également vérifié les effets sur la matrice extracellulaire et l'ADN nucléaire à l'aide de fibroblastes ou de modèles cutanés reconstruits. Nous avons mesuré l'hydratation de la peau, l'élasticité, la surface de rides, le rapport des surfaces de rides, la surface d'érythème, et le rapport des surfaces d'érythème chez des volontaires ayant utilisé une émulsion contenant 3% d'ETF pendant 28 et 56 jours. RÉSULTATS: L'analyse métabolomique ciblée des feuilles de thé blanc a révélé plus de 20 métabolites différentiels ayant des activités antioxydantes et anti­inflammatoires, notamment des acides aminés, des polypeptides, de la quercétine et de la liquiritine après fermentation. Par rapport à l'ET, l'ETF peut réduire significativement les espèces réactives de l'oxygène (ERO) et protéger contre les lésions cutanées induites par le stress oxydatif dans les cellules HaCaT induites par l'H2O2. L'ETF peut inhiber la dégradation du collagène induite par l'H2O2 en supprimant la voie de signalization MAPK/c­Jun et peut également atténuer les dommages causés par les espèces réactives de l'oxygène à l'ADN nucléaire. Les études cliniques ont montré que la teneur en eau de la couche cornée des volontaires, l'élasticité de la peau, la surface de rides, le rapport des surfaces de rides, la surface d'érythème et le rapport des surfaces d'érythème se sont significativement améliorés par rapport à la référence après 28 et 56 jours d'utilisation d'ETF. CONCLUSION: Cette étude contribue au corpus croissant de littérature soutenant les effets protecteurs des extraits de plantes fermentées contre le stress oxydatif cutané et le vieillissement. En outre, nos résultats pourraient inspirer des efforts pluridisciplinaires pour étudier de nouvelles techniques de fermentation susceptibles de produire des solutions anti­âge encore plus puissantes.

6.
Environ Geochem Health ; 46(10): 383, 2024 Aug 21.
Artigo em Inglês | MEDLINE | ID: mdl-39167286

RESUMO

Traditional cement solidifying or stabilizing heavy metal-contaminated sites often face issues like alkalinity loss, cracking, and poor long-term performance. Therefore, bentonite-supported nano-zero-valent iron (B-nZVI) was introduced to optimize the remediation effect of cement in this paper. The effects of B-nZVI, ordinary Portland cement (OPC), and B-nZVI + OPC on the chemical stability of heavy metals and the physical strength of lead-contaminated soil were compared using semi-dynamic leaching methods, BCR tests, unconfined strength analysis, and micro-assisted analysis. Results demonstrated that the addition of B-nZVI effectively enhanced the remediation efficacy of OPC on lead-contaminated soil. The combination of B-nZVI and OPC exhibited a synergistic repair effect, offering superior physical strength and chemical stability for lead remediation. B-nZVI facilitated the adsorption and enrichment of Pb2+, thereby reducing oxidizable lead and enhancing short-term stabilization. Meanwhile, OPC precipitation and silicate gelling stabilized exchangeable lead into the residual form, necessitating repeated hydration gelling. Additionally, B-nZVI's sealing effect via water absorption delayed the leaching of exchangeable lead, thereby reducing lead migration. Even with only 1% B-nZVI added to the 12% OPC base, the leaching amount of Pb2+ decreased significantly from 67.6 to 6.59 mg/kg after 7 d of curing. The unconfined strength of contaminated soil treated with the composite solidifying agent for 7 d was 12.87% higher than that of OPC alone, and for 28 d, it was 36.48% higher. This optimization scheme presents a promising approach for effective and sustainable remediation of heavy metal-contaminated sites.


Assuntos
Materiais de Construção , Recuperação e Remediação Ambiental , Ferro , Chumbo , Poluentes do Solo , Poluentes do Solo/química , Chumbo/química , Recuperação e Remediação Ambiental/métodos , Ferro/química , Bentonita/química , Metais Pesados/química , Adsorção
7.
Huan Jing Ke Xue ; 45(7): 3965-3972, 2024 Jul 08.
Artigo em Chinês | MEDLINE | ID: mdl-39022944

RESUMO

The aim of this study was to comprehensively understand the water environment quality status and its change trend in the Inner Mongolia section of the Yellow River Basin. To analyze the water quality in recent years,the water quality data in the Yellow River basin from 2003 to 2020 were firstly collected from five typical monitoring stations.Various data analysis methods, including principal component analysis, cluster analysis, and a long short-term memory model, were used along with an improved comprehensive water quality identification index to explore the spatiotemporal characteristics of water quality in the Yellow River Basin. The results showed that the overall water quality in the basin has improved and stabilized over time. In terms of temporal variation, there was a distinction between the wet season and dry season, with a better status observed during the wet season due to increased agricultural irrigation and higher water volume. Spatially, the five monitoring sections could be divided into three categories based on strong natural factors that maintained their temporal characteristics during the wet season; however, significant differences were observed during the dry season due to urban water usage patterns. Analysis using LSTM models revealed that ammonia nitrogen will continue to decline and have a decreasing impact on the comprehensive water quality. These findings provide valuable insights for the comprehensive management of water quality in Inner Mongolia's Yellow River Basin.

8.
Inorg Chem ; 63(29): 13450-13458, 2024 Jul 22.
Artigo em Inglês | MEDLINE | ID: mdl-38959430

RESUMO

The conversion of CO2 to generate high-value-added chemicals has become one of the hot research topics in green synthesis. Thereinto, the cyclization reaction of propargylic amines with CO2 is highly attractive because the resultant oxazolidinones are widely found in pharmaceutical chemistry. Cu(I)-based metal-organic frameworks (MOFs) as catalysts exhibit promising application prospects for CO2 conversion. However, their practical application was greatly limited due to Cu(I) being liable to disproportionation or oxidization. Herein, the solid copper(I) iodide thorium-based porous framework {[Cu5I6Th6(µ3-O)4(µ3-OH)4(H2O)10(L)10]·OH·4DMF·H2O}n (1) (HL = 2-methylpyridine-4-carboxylic acid) constructed by [Th6] clusters and [CuxIy] subunits was successfully prepared and structurally characterized. To our knowledge, this is the first copper(I) iodide-based actinide organic framework. Catalytic investigations indicate that 1 can effectively catalyze the cyclization of propargylic amines with CO2 under ambient conditions, which can be reused at least five times without a remarkable decline of catalytic activity. Importantly, 1 exhibits excellent chemical stability and the oxidation state of Cu(I) in it can remain stable under various conditions. This work can provide a valuable strategy for the synthesis of stable Cu(I)-MOF materials.

9.
J Agric Food Chem ; 2024 Jul 25.
Artigo em Inglês | MEDLINE | ID: mdl-39052860

RESUMO

This study evaluated alkylresorcinol concentration (ARC) in recombinant inbred lines (RILs) from the cross of Zhongmai 578 and Jimai 22 in three environments. ARC exhibited a continuous distribution ranging from 337.4 to 758.0, 495.4-768.0, and 456.3-764.7 µg/g, respectively, in three environments. Analysis of variance (ANOVA) indicated significant (P < 0.001) impacts of genotypes, environments, and their interactions. The broad-sense heritability of ARC was 0.76. Genome-wide linkage mapping analysis identified four stable quantitative trait loci (QTL) for ARC on chromosomes 2A, 3A, 4D, and 7A. Kompetitive allele-specific PCR (KASP) marker of each QTL was developed and validated in 206 representative wheat varieties. Wheat varieties harboring 0, 1, 2, 3, and 4 favorable alleles had ARC of 499.1, 587.8, 644.7, 668.5, and 711.1 µg/g, respectively. This study suggests that combining multiple minor-effect QTL through KASP markers can serve as an effective strategy for breeding high-ARC wheat, thereby enhancing innovations in functional food production.

10.
Ann Hematol ; 103(10): 4261-4270, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-38990296

RESUMO

Membranous nephropathy (MN) is a rare complication that can occur after allogeneic hematopoietic stem cell transplantation (allo-HSCT). MN patients may develop nephrotic syndrome or even kidney failure, which greatly affects their quality of life and prognosis. However, current knowledge regarding MN after allo-HSCT is limited. Thus, a multicenter nested case‒control study was conducted. Patients who had been diagnosed with MN after allo-HSCT were retrospectively identified at 8 HSCT centers. A total of 51 patients with MN after allo-HSCT were included. The median age of MN patients after allo-HSCT was 38 years, and the median duration from HSCT to MN was 18 months. The use of HLA-matched donors (P = 0.0102) and peripheral blood as the graft source (P = 0.0060) were identified as independent predisposing risk factors for the onset of MN after allo-HSCT. Compared to those in the control group, the incidence of extensive chronic graft-versus-host disease was greater in the MN patients (P = 0.0002). A total of 31 patients developed nephrotic syndrome. Patients receiving combination treatments of corticosteroids and immunosuppressants appeared to have better outcomes. In conclusion, MN is a rare but occasionally severe complication following HSCT and may require active treatment.


Assuntos
Glomerulonefrite Membranosa , Transplante de Células-Tronco Hematopoéticas , Humanos , Glomerulonefrite Membranosa/etiologia , Glomerulonefrite Membranosa/epidemiologia , Glomerulonefrite Membranosa/terapia , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Estudos Retrospectivos , Estudos de Casos e Controles , Transplante Homólogo/efeitos adversos , Doença Enxerto-Hospedeiro/etiologia , Adolescente , Adulto Jovem , Fatores de Risco , Síndrome Nefrótica/etiologia , Síndrome Nefrótica/terapia , Imunossupressores/uso terapêutico , Imunossupressores/efeitos adversos , Aloenxertos
11.
Ying Yong Sheng Tai Xue Bao ; 35(5): 1337-1346, 2024 May.
Artigo em Chinês | MEDLINE | ID: mdl-38886433

RESUMO

Shanxi Province holds an important strategic position in the overall ecological pattern of the Yellow River Basin. To investigate the changes of the ecological environment in the Shanxi section of the Yellow River Basin from 2000 to 2020, we selected MODIS remote sensing image data to determine the remote sensing ecological index (RSEI) based on the principal component analysis of greenness, humidity, dryness, and heat. Then, we analyzed the spatial and temporal variations of ecological quality in this region to explore the influencing factors. We further used the CA-Markov model to simulate and predict the ecological environment under different development scenarios in the Shanxi section of the Yellow River Basin in 2030. The results showed that RSEI had good applicability in the Shanxi section of the Yellow River Basin which could be used to monitor and evaluate the spatiotemporal variations in its ecological environment. From 2000 to 2020, the Shanxi section of the Yellow River Basin was dominated by low quality habitat areas, in which the ecological environment quality continued to improve from 2000 to 2010 and decreased from 2010 to 2020. The high quality habitat areas mainly located on the mountainous areas with superior natural conditions and rich biodiversity, while the low ecological quality areas were mainly in the Taiyuan Basin and the northern part of the study area, where the mining industry developed well. Climate factors were negatively correlated with ecological environment quality in the northern and central parts of the study area, and positively correlated with that in the mountainous area. Under all three development scenarios, the area of cultivated land, forest, water and construction land increased in 2030 compared to that in 2020. Compared to the natural development scenario and the cultivated land protection scenario, the ecological constraint scenario with RSEI as the limiting factor had the highest area of new forest and the lowest expansion rate of cultivated land and construction land. The results would provide a reference for land space planning and ecological environment protection in the Shanxi section of the Yellow River Basin.


Assuntos
Conservação dos Recursos Naturais , Ecossistema , Monitoramento Ambiental , Tecnologia de Sensoriamento Remoto , Rios , China , Monitoramento Ambiental/métodos , Imagens de Satélites , Ecologia
12.
IUBMB Life ; 76(10): 788-802, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-38721892

RESUMO

Low back pain is a common clinical symptom of intervertebral disc degeneration (IVDD), which seriously affects the quality of life of the patients. The abnormal apoptosis and senescence of nucleus pulposus cells (NPCs) play important roles in the pathogenesis of IVDD. PHLDA2 is an imprinted gene related to cell apoptosis and tumour progression. However, its role in NPC degeneration is not yet clear. Therefore, this study was set to explore the effects of PHLDA2 on NPC senescence and apoptosis and the underlying mechanisms. The expression of PHLDA2 was examined in human nucleus pulposus (NP) tissues and NPCs. Immunohistochemical staining, magnetic resonance imaging imaging and western blot were performed to evaluate the phenotypes of intervertebral discs. Senescence and apoptosis of NPCs were assessed by SA-ß-galactosidase, flow cytometry and western blot. Mitochondrial function was investigated by JC-1 staining and transmission electron microscopy. It was found that the expression level of PHLDA2 was abnormally elevated in degenerated human NP tissues and NPCs. Furthermore, knockdown of PHLDA2 can significantly inhibit senescence and apoptosis of NPCs, whereas overexpression of PHLDA2 can reverse senescence and apoptosis of NPCs in vitro. In vivo experiment further confirmed that PHLDA2 knockdown could alleviate IVDD in rats. Knockdown of PHLDA2 could also reverse senescence and apoptosis in IL-1ß-treated NPCs. JC-1 staining indicated PHLDA2's knockdown impaired disruption of the mitochondrial membrane potential and also ameliorated superstructural destruction of NPCs as showed by transmission electron microscopy. Finally, we found the PHLDA2 knockdown promoted Collagen-II expression and suppressed MMP3 expression in NPCs by repressing wnt/ß-catenin pathway. In conclusion, the results of the present study showed that PHLDA2 promotes IL-1ß-induced apoptosis and senescence of NP cells via mitochondrial route by activating the Wnt/ß-catenin pathway, and suggested that therapy targeting PHLDA2 may provide valuable insights into possible IVDD therapies.


Assuntos
Apoptose , Senescência Celular , Degeneração do Disco Intervertebral , Mitocôndrias , Núcleo Pulposo , Via de Sinalização Wnt , Humanos , Núcleo Pulposo/metabolismo , Núcleo Pulposo/patologia , Degeneração do Disco Intervertebral/patologia , Degeneração do Disco Intervertebral/metabolismo , Degeneração do Disco Intervertebral/genética , Mitocôndrias/metabolismo , Mitocôndrias/patologia , Animais , Ratos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Ratos Sprague-Dawley , Células Cultivadas , beta Catenina/metabolismo , beta Catenina/genética , Proteínas Nucleares
13.
Clin Chim Acta ; 557: 117889, 2024 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-38531466

RESUMO

Fabry disease (FD), an X-linked disorder resulting from dysfunction of α-galactosidase A, can result in significant complications. Early intervention yields better outcomes, but misdiagnosis or delayed diagnosis is common, impacting prognosis. Thus, early detection is crucial in the clinical diagnosis and treatment of FD. While newborn screening for FD has been implemented in certain regions, challenges persist in enzyme activity detection techniques, particularly for female and late-onset patients. Further exploration of improved screening strategies is warranted. This study retrospectively analyzed genetic screening results for pathogenic GLA variants in 17,171 newborns. The results indicated an estimated incidence of FD in the Nanjing region of China of approximately 1 in 1321. The most prevalent pathogenic variant among potential FD patients was c.640-801G > A (46.15 %). Furthermore, the residual enzyme activity of the pathogenic variant c.911G > C was marginally higher than that of other variants, and suggesting that genetic screening may be more effective in identifying potential female and late-onset patients compared to enzyme activity testing. This research offers initial insights into the effectiveness of GLA genetic screening and serves as a reference for early diagnosis, treatment, and genetic counseling in FD.


Assuntos
Doença de Fabry , Humanos , Recém-Nascido , Feminino , Doença de Fabry/diagnóstico , Doença de Fabry/genética , Estudos Retrospectivos , Triagem Neonatal/métodos , Mutação , Testes Genéticos , alfa-Galactosidase/genética , China
14.
J Glob Health ; 14: 04044, 2024 Feb 23.
Artigo em Inglês | MEDLINE | ID: mdl-38389402

RESUMO

Background: Newborn genetic screening (NBGS) based on next-generation sequencing offers enhanced disease detection and better detection rates than traditional newborn screening. However, challenges remain, especially around reporting the NBGS carrier results. Therefore, we aimed to investigate the NBGS carrier parents' views on NBGS and NBGS reports in China. Methods: We distributed a survey querying demographic information, knowledge and perceptions of NBGS, the impact of NBGS on a total of 2930 parents, and their decision-making to parents of newborns reported as carriers in NBGS in Nanjing, China in 2022. Results: The average age of the survey respondents was 30.7 years (standard deviation = 3.6). Most (68.38%) felt informed about NBGS, especially women, the highly educated, and high earners. Nearly all (98.74%) saw NBGS as crucial for early disease detection, with 73.18% believing it positively impacts their future. However, 19.16% felt it might cause anxiety, especially among the less educated. Concerns included potential discrimination due to exposed genetic data and strained family ties. Many suggested NBGS coverage by medical insurance to ease financial burdens. Conclusions: Through our study, we gained insights into parents' perspectives and concerns regarding the NBGS carrier result reporting, thus providing relevant information for further refinement and clinical promotion of the NBGS project.


Assuntos
Testes Genéticos , Triagem Neonatal , Humanos , Recém-Nascido , Feminino , Adulto , Triagem Neonatal/métodos , Testes Genéticos/métodos , Ansiedade , Inquéritos e Questionários , Pais
15.
Spectrochim Acta A Mol Biomol Spectrosc ; 312: 123839, 2024 May 05.
Artigo em Inglês | MEDLINE | ID: mdl-38417235

RESUMO

An innovative salamo-like fluorescent chemical sensor H2L, has been prepared that can be utilized to selectively detect Cu2+ and B4O72- ions. Cu2+ ions can bind to oxime state nitrogen and phenol state oxygen atoms in the chemosensor H2L, triggering the LMCT effect leading to fluorescence enhancement. The crystal structure of the copper(II) complex, named as [Cu(L)], has been achieved via X-ray crystallography, and the sensing mechanism has been confirmed by further theoretical calculations with DFT. Besides, the sensor H2L recognizes B4O72- ions causing an ICT effect resulting in bright blue fluorescence. Moreover, the sensor has relatively high selectivity and sensitivity for Cu2+ and B4O72- ions, and the detection limits are 1.02 × 10-7 and 2.06 × 10-7 M, respectively. In addition, the good biocompatibility and excellent water solubility of the sensor H2L make it very advantageous in practical applications, using H2L powder for fingerprint visualization, using H2L to identify the phenomenon of B4O72- ions emitting bright blue fluorescence, making it an ink that can print encrypted messages on A4 paper, in addition to this, based on H2L, the real water sample was tested for Cu2+ ion recognition, and finally the test strip experiment was carried out.

16.
Inorg Chem ; 63(5): 2776-2786, 2024 Feb 05.
Artigo em Inglês | MEDLINE | ID: mdl-38266170

RESUMO

Developing efficient heterogeneous catalysts for chemical fixation of CO2 to produce high-value-added chemicals under mild conditions is highly desired but still challenging. Herein, we first reported an approach to prepare a novel catalyst (Ag@NCNFs), featuring Ag nanoparticles (NPs) embedded within porous nitrogen-doped carbon nanofibers (NCNFs), via growing a Ag metal-organic framework on one-dimensional electrospun nanofibers followed by pyrolysis. Benefiting from the abundant nitrogen species and porous structure, Ag NPs is well dispersed in the obtained Ag@NCNFs. Catalytic studies indicated that Ag@NCNFs exhibited excellent catalytic activity for the three-component coupling reaction of CO2, secondary amines, and propargylic alcohols to generate ß-oxopropylcarbamates under mild conditions with a turnover number (TON) of 16.2, and it can be recycled and reused at least 5 times without an obvious decline in catalytic activity. The reaction mechanism was clearly clarified by FTIR, NMR, 13C isotope labeling, control experiments, and density functional theory calculations. The results suggest that Ag@NCNFs and 1,8-diazabicyclo[5.4.0]undec-7-ene can synergistically activate propargylic alcohol to react with CO2, and then the generated α-alkylidene cyclic carbonate was invaded by secondary amine to produce ß-oxopropylcarbamate. Importantly, to the best of our knowledge, this is the first experimental and theoretical investigation on this reaction.

17.
World J Gastrointest Oncol ; 16(1): 90-101, 2024 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-38292843

RESUMO

BACKGROUND: Surgical resection remains the primary treatment for hepatic malignancies, and intraoperative bleeding is associated with a significantly increased risk of death. Therefore, accurate prediction of intraoperative bleeding risk in patients with hepatic malignancies is essential to preventing bleeding in advance and providing safer and more effective treatment. AIM: To develop a predictive model for intraoperative bleeding in primary hepatic malignancy patients for improving surgical planning and outcomes. METHODS: The retrospective analysis enrolled patients diagnosed with primary hepatic malignancies who underwent surgery at the Hepatobiliary Surgery Department of the Fourth Hospital of Hebei Medical University between 2010 and 2020. Logistic regression analysis was performed to identify potential risk factors for intraoperative bleeding. A prediction model was developed using Python programming language, and its accuracy was evaluated using receiver operating characteristic (ROC) curve analysis. RESULTS: Among 406 primary liver cancer patients, 16.0% (65/406) suffered massive intraoperative bleeding. Logistic regression analysis identified four variables as associated with intraoperative bleeding in these patients: ascites [odds ratio (OR): 22.839; P < 0.05], history of alcohol consumption (OR: 2.950; P < 0.015), TNM staging (OR: 2.441; P < 0.001), and albumin-bilirubin score (OR: 2.361; P < 0.001). These variables were used to construct the prediction model. The 406 patients were randomly assigned to a training set (70%) and a prediction set (30%). The area under the ROC curve values for the model's ability to predict intraoperative bleeding were 0.844 in the training set and 0.80 in the prediction set. CONCLUSION: The developed and validated model predicts significant intraoperative blood loss in primary hepatic malignancies using four preoperative clinical factors by considering four preoperative clinical factors: ascites, history of alcohol consumption, TNM staging, and albumin-bilirubin score. Consequently, this model holds promise for enhancing individualised surgical planning.

18.
Environ Toxicol ; 39(3): 1617-1630, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38009649

RESUMO

BACKGROUND: Circular RNAs (circRNAs) have been reported to play important roles in cancers. Here, we characterized circVMP1 (hsa_circ_0006508), an important circRNA which promoted glycolysis and disease progression in colorectal cancer (CRC). In this study, we aimed to explore the mechanism by which circVMP1 regulated tumor glycolysis and its related pathways in promoting CRC cell proliferation and metastasis. METHODS: The expression level of circVMP1 in CRC tissues and adjacent normal tissues was detected using quantitative PCR. In vitro and in vivo functional experiments were used to evaluate the effects of circVMP1 in the regulation of CRC cell proliferation and migration. Mitochondrial stress tests and glycolysis stress tests were conducted to detect the effect of circVMP1 on oxidative phosphorylation and glycolysis. Dual-luciferase reporter and RNA immunoprecipitation assays were used to evaluate the interaction between circVMP1, miR-3167, and HKDC1. RESULTS: We demonstrated that the level of circVMP1 was significantly upregulated in CRC tissues compared with normal tissues. In HCT116 and SW480 cells, overexpression of circVMP1 promoted proliferation, metastasis, and glycolysis. In vivo analysis indicated that circVMP1 accelerated the proliferation of xenograft tumors. As for the mechanism, overexpression of circVMP1 increased the levels of hexokinase domain component 1 (HKDC1) through competitive binding with miR-3167. CONCLUSION: Our study reported that circVMP1 was one of the tumor driver genes that promoted CRC malignant progression and glycolysis by upregulating HKDC1. CircVMP1/miR-3167/HKDC1 was a signaling axis that might be a target for CRC therapy.


Assuntos
Neoplasias Colorretais , Hexoquinase , RNA Circular , Humanos , Linhagem Celular Tumoral , Proliferação de Células , Progressão da Doença , Glicólise , Hexoquinase/metabolismo , MicroRNAs
19.
Curr Biol ; 33(23): 5057-5070.e5, 2023 12 04.
Artigo em Inglês | MEDLINE | ID: mdl-37995698

RESUMO

Sex determination in many fish species is remarkably plastic and temperature sensitive. Nile tilapia display a genetic sex-determination system (XX/XY). However, high-temperature treatment during critical thermosensitive periods can induce XX females into XXm pseudo-males, and this phenomenon is termed temperature-induced sex reversal (TISR). To investigate the molecular mechanism of TISR in Nile tilapia, we performed Iso-seq analysis and found a dramatic effect of high temperature on gene alternative splicing (AS). Kdm6bb histone demethylase showed a novel AS at intron 5 that generates Kdm6bb_tv1 transcripts without intron 5 and Kdm6bb_tv2 with intron 5. Kdm6bb_tv1 encodes a full-length protein while Kdm6bb_tv2 encodes a truncated protein. Expression analysis revealed that intron 5 splicing of Kdm6bb is male and gonad biased at larval stage, and only gonad biased at adult stage. High-temperature treatment induced intron 5 splicing in the gonads of XX and XY fish, resulting in increased Kdm6bb_tv1 expression. To directly test the role of Kdm6bb_tv1 in Nile tilapia TISR, we knocked out expression of Kdm6bb_tv1. However, Kdm6bb_tv1-/- homozygous mutants showed embryonic lethality. Overexpression of Kdm6bb_tv1, but not Kdm6bb_tv2, induced sex reversal of XX females into pseudo-males. Overexpression of Kdm6bb_tv1, as with high-temperature treatment, modified the promotor region of Gsdf and Dmrt1 by demethylating the trimethylated lysine 27 of histone 3 (H3K27me3), thereby increasing expression. Collectively, these studies demonstrate that AS of Kdm6bb intron 5 increases the expression of Kdm6bb_tv1, which acts as a direct link between high temperature and activation of Gsdf and Dmrt1 expression, leading to male sex determination.


Assuntos
Ciclídeos , Animais , Feminino , Masculino , Ciclídeos/genética , Processamento Alternativo , Temperatura , Gônadas/metabolismo , Diferenciação Sexual/genética
20.
J Glob Health ; 13: 04128, 2023 Oct 13.
Artigo em Inglês | MEDLINE | ID: mdl-37824171

RESUMO

Background: Newborn genetic screening (NBGS) is promising for early detection of genetic diseases in newborns. However, little is known about its clinical effectiveness in special groups like high-risk infants. To address this gap, we aimed to investigate the impact of NBGS on high-risk infants. Methods: We screened 10 334 healthy newborns from the general maternity unit and 886 high-risk infants from the neonatal ward using both traditional newborn screening (tNBS) and NBGS, and collected clinical data from electronic medical records. Results: We found that high-risk infants had a higher proportion of eutocia (P < 0.01) and prematurity (P < 0.01). For high-risk infants vs healthy newborns screened by tNBS, the primary screening positive rate was 3.84% vs 1.31%, the false positive rate (FPR) was 3.62% vs 1.18% (P < 0.001), and the positive predictive value (PPV) was 5.88% vs 8.27%. For NBGS vs tNBS in high-risk infants, the primary screening positive rate was 0.54% vs 3.68%, the FPR was 0.22% vs 3.47%, and the PPV was 60.00% vs 5.88%. Conclusions: We found that combined newborn screening can effectively reduce the FPR caused by the high-risk symptoms and improve the PPV in high-risk infants, sufficient for more accurately showing the true status of the disease.


Assuntos
Doenças do Recém-Nascido , Triagem Neonatal , Gravidez , Recém-Nascido , Lactente , Humanos , Feminino , Testes Genéticos , Valor Preditivo dos Testes , China
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