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1.
Langmuir ; 40(27): 13860-13869, 2024 Jul 09.
Artículo en Inglés | MEDLINE | ID: mdl-38921353

RESUMEN

The huge polyoxometalate, Na48[HxMo256VIMo112VO1032(H2O)240(SO4)48] ({Mo368}), which can be prepared by a facile solution process and can be applied in lithium-ion storage applications as the anode. The large and open hollow nanostructure is promising to store a larger number of lithium ions and expedite the diffusion of lithium ions. A single {Mo368} nanocluster can transfer 624 electrons, referred to as a "huge electron sponge". Pure {Mo368} without any support materials exhibits very high capacities of 964 mA h g-1 with hardly any decay for 100 cycles at 0.1 A g-1 and still maintains 761 mA h g-1 after 180 cycles at 0.5 A g-1, indicating great cycling stability. The {Mo368} anode provides excellent rate performance and reversibility during the lithiation/delithiation processes, which are contributed by both the diffusion-controlled process and the capacitive process. The capacitive contribution can reach 71.7% at a scan rate of 2 mV s-1. The high DLi+ value measured by GITT confirms the fast reaction kinetics of the {Mo368} electrode. The {Mo368}//NCM111-A full cell is practically applied to light LED lamps. These investigations indicate that {Mo368} nanoclusters are advanced energy storage materials with high capacities, fast charge transfer, and low-cost mass production for lithium-ion storage. Moreover, {Mo368} should be considered a clean energy material because there is no production of environmental pollution during the charge/discharge processes.

2.
J Fluoresc ; 34(1): 353-358, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37256463

RESUMEN

In this report, we developed a sensing strategy based on ThT-E (a ThT derivative) and DNA G-quadruplex for the label-free detection of Zn2+. In the absence of Zn2+, there was a fluorescence enhancement of ThT-E by interaction with human telomere sequence. On the addition of Zn2+, Zn2+ induced a more compact antiparallel G-quadruplex to release ThT-E, resulting in fluorescence quenching. The detection limit was 0.6996 µM, and the fluorescence intensity showed a good linear relationship with the concentration of Zn2+ in the range of 0-10 µM. This sensing strategy which only needs to mix two kinds of materials has the characteristics of label-feel, simple operation, short response time, economical and efficient.


Asunto(s)
Técnicas Biosensibles , G-Cuádruplex , Humanos , Benzotiazoles , Espectrometría de Fluorescencia/métodos , Colorantes Fluorescentes , Técnicas Biosensibles/métodos , ADN , Zinc , Límite de Detección
3.
Int J Mol Sci ; 24(12)2023 Jun 18.
Artículo en Inglés | MEDLINE | ID: mdl-37373450

RESUMEN

Spikelet number per panicle (SNP) is one of the most important yield components in rice. Rice ENHANCING BIOMASS AND SPIKELET NUMBER (OsEBS), a gene involved in improved SNP and yield, has been cloned from an accession of Dongxiang wild rice. However, the mechanism of OsEBS increasing rice SNP is poorly understood. In this study, the RNA-Seq technology was used to analyze the transcriptome of wildtype Guichao 2 and OsEBS over-expression line B102 at the heading stage, and analysis of the evolution of OsEBS was also conducted. A total of 5369 differentially expressed genes (DEGs) were identified between Guichao2 and B102, most of which were down-regulated in B102. Analysis of the expression of endogenous hormone-related genes revealed that 63 auxin-related genes were significantly down-regulated in B102. Gene Ontogeny (GO) enrichment analysis showed that the 63 DEGs were mainly enriched in eight GO terms, including auxin-activated signaling pathway, auxin polar transport, auxin transport, basipetal auxin transport, and amino acid transmembrane transport, most of which were directly or indirectly related to polar auxin transport. Kyoto Encyclopedia of Genes and Genomes (KEGG) metabolic pathway analysis further verified that the down-regulated genes related to polar auxin transport had important effects on increased SNP. Analysis of the evolution of OsEBS found that OsEBS was involved in the differentiation of indica and japonica, and the differentiation of OsEBS supported the multi-origin model of rice domestication. Indica (XI) subspecies harbored higher nucleotide diversity than japonica (GJ) subspecies in the OsEBS region, and XI experienced strong balancing selection during evolution, while selection in GJ was neutral. The degree of genetic differentiation between GJ and Bas subspecies was the smallest, while it was the highest between GJ and Aus. Phylogenetic analysis of the Hsp70 family in O. sativa, Brachypodium distachyon, and Arabidopsis thaliana indicated that changes in the sequences of OsEBS were accelerated during evolution. Accelerated evolution and domain loss in OsEBS resulted in neofunctionalization. The results obtained from this study provide an important theoretical basis for high-yield rice breeding.


Asunto(s)
Oryza , RNA-Seq , Oryza/genética , Filogenia , Fitomejoramiento , Perfilación de la Expresión Génica , Transcriptoma
4.
J Integr Plant Biol ; 65(7): 1753-1766, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-36939166

RESUMEN

Auxin is an important phytohormone in plants, and auxin signaling pathways in rice play key roles in regulating its growth, development, and productivity. To investigate how rice grain yield traits are regulated by auxin signaling pathways and to facilitate their application in rice improvement, we validated the functional relationships among regulatory genes such as OsIAA10, OsSK41, and OsARF21 that are involved in one of the auxin (OsIAA10) signaling pathways. We assessed the phenotypic effects of these genes on several grain yield traits across two environments using knockout and/or overexpression transgenic lines. Based on the results, we constructed a model that showed how grain yield traits were regulated by OsIAA10 and OsTIR1, OsAFB2, and OsSK41 and OsmiR393 in the OsSK41-OsIAA10-OsARF module and by OsARF21 in the transcriptional regulation of downstream auxin response genes in the OsSK41-OsIAA10-OsARF module. The population genomic analyses revealed rich genetic diversity and the presence of major functional alleles at most of these loci in rice populations. The strong differentiation of many major alleles between Xian/indica and Geng/japonica subspecies and/or among modern varieties and landraces suggested that they contributed to improved productivity during evolution and breeding. We identified several important aspects associated with the genetic and molecular bases of rice grain and yield traits that were regulated by auxin signaling pathways. We also suggested rice auxin response factor (OsARF) activators as candidate target genes for improving specific target traits by overexpression and/or editing subspecies-specific alleles and by searching and pyramiding the 'best' gene allelic combinations at multiple regulatory genes in auxin signaling pathways in rice breeding programs.


Asunto(s)
Oryza , Oryza/metabolismo , Fitomejoramiento , Fenotipo , Ácidos Indolacéticos/metabolismo , Grano Comestible/genética , Grano Comestible/metabolismo
5.
Clin Exp Rheumatol ; 40(12): 2268-2274, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36135951

RESUMEN

OBJECTIVES: To evaluate the efficacy and safety of tacrolimus (TAC) for the treatment of primary Sjögren's syndrome (pSS) with refractory immune thrombocytopenia (RITP). METHODS: Twenty-three pSS patients with RITP treated with TAC from June 2018 to June 2021 at the First Affiliated Hospital of Soochow University were enrolled in this retrospective cohort study. Platelet response, clinical and immunological parameters, toxicity and safety were compared and analysed at baseline and different points after TAC treatment. RESULTS: At 4 weeks after treatment, 2 patients (8.7%) attained a complete response (CR, platelet count ≥100×109/L and no bleeding), 15 patients (65.2%) achieved a partial response (PR, platelet count ≥ 30×109/L but <100×109/L and no bleeding or a platelet count at least twice that before treatment), and the other 6 patients (26.1%) did not respond to TAC treatment. At 8 weeks after treatment, a CR was seen in 4 patients (17.4%), and the percentage of patients with a PR increased to 78.3% (18 patients). The percentage of patients with a CR increased to 47.8% (11 patients), and 9 patients (39.1%) achieved a PR without relapse at 12 weeks after treatment. At 24 weeks after treatment, 14 patients (60.9%) achieved a CR, and 8 patients (34.8%) achieved a PR. Compared to before treatment, the level of IgG was decreased significantly at 24 weeks after treatment, whereas there was no significant difference in the levels of IgM or IgA between baseline and 24 weeks after treatment. Additionally, the absolute CD3+ T cell count, European SS Disease Activity Index (ESSDAI) score, and levels of IL-2 and INF-γ were significantly decreased at 24 weeks after treatment. CONCLUSIONS: TAC is effective and well tolerated by pSS patients with RITP, and the mechanism underlying the effect of TAC in these patients may be related to reduced Th1 cytokine expression.


Asunto(s)
Púrpura Trombocitopénica Idiopática , Síndrome de Sjögren , Humanos , Estudios Retrospectivos , Tacrolimus/efectos adversos , Síndrome de Sjögren/diagnóstico , Síndrome de Sjögren/tratamiento farmacológico , Púrpura Trombocitopénica Idiopática/diagnóstico , Púrpura Trombocitopénica Idiopática/tratamiento farmacológico , Recuento de Plaquetas
6.
J Comput Assist Tomogr ; 46(1): 145-149, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35099147

RESUMEN

OBJECTIVE: The thyroid gland normally presents as a hyperdense organ on noncontrast computed tomography (CT) in adults. The correlation between thyroid gland CT density and its functional status has been studied; however, little is known regarding its density in children with normal thyroid functions. We aimed to assess the correlation between thyroid gland CT density and age in children with normal thyroid functions. METHODS: From April 2017 to March 2021, we enrolled 74 patients who had normal thyroid functions within 1 month before or after undergoing neck or cervical spine CT for trauma, neck masses, congenital diseases, and airway stenosis. Their CT images were retrospectively analyzed by 2 independent radiologists. Based on age, patients were divided into 4 groups: infant, preschool-aged, school-aged, and adolescence groups. RESULTS: Patients with thyroid gland hypodensity in the infant group (70%, 14 of 20) were significantly more numerous than those in preschool-aged (25%, 4 of 16), school-aged (20%, 5 of 25), and adolescence (15.4%, 2 of 13) groups (P = 0.007, 0.001, and 0.002, respectively, Fisher exact test). The mean CT density of the thyroid gland was also lower in the infant group compared with the densities in other age groups. There was a weak positive correlation between thyroid CT density and age (r = 0.264, P = 0.023, linear regression analysis). CONCLUSIONS: Thyroid CT density is related to age in children. The thyroid gland normally has a low density on noncontrast CT in most infants with normal thyroid function.


Asunto(s)
Glándula Tiroides/diagnóstico por imagen , Glándula Tiroides/fisiología , Tomografía Computarizada por Rayos X , Adolescente , Envejecimiento/fisiología , Niño , Preescolar , China , Femenino , Humanos , Lactante , Masculino , Estudios Retrospectivos
7.
J Obstet Gynaecol Res ; 48(7): 1945-1954, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-35613700

RESUMEN

BACKGROUND: Existing studies on the association of age at menarche and age at natural menopause with diabetes are conflicting. OBJECTIVE: To explore the associations of age at menarche and age at natural menopause with diabetes, and to estimate whether body mass index, abdominal obesity, hypertension, and dyslipidemia would influence the relationships. METHODS: In this cross-sectional study, 5090 postmenopausal women were included from the China Multi-Ethnic Cohort Study (CMEC) baseline in Chongqing province. Questionnaires, physical examinations, and biological samples testing were conducted. Logistic regression was used to generate odds ratios (ORs) and 95% confidence intervals (CIs). And restricted cubic splines were performed to evaluate the pattern of association between ages at menarche and menopause with diabetes. RESULTS: The adjusted ORs for diabetes grouped by age at menarche (<12, 12-17, >17 years) were 0.76 (95%CI: 0.42-1.40), 1.00 (reference), and 0.73 (95%CI: 0.57-0.94). Similarly, the adjusted ORs for diabetes grouped by age at menopause (<44, 44-52, >52 years) were 1.38 (95%CI: 1.04-1.82), 1.00 (reference), and 1.11 (95%CI: 0.89-1.39). No significant interaction of age at menarche and menopause with body mass index, abdominal obesity, hypertension, and dyslipidemia in odds of diabetes was observed. CONCLUSION: Late menarche is associated with a lower prevalence of diabetes, while early natural menopause is associated with a higher prevalence of diabetes. No significant effect modification was observed by body mass index, abdominal obesity, hypertension, or dyslipidemia.


Asunto(s)
Diabetes Mellitus , Hipertensión , Menopausia Prematura , Factores de Edad , China/epidemiología , Estudios de Cohortes , Estudios Transversales , Diabetes Mellitus/epidemiología , Femenino , Humanos , Hipertensión/epidemiología , Menarquia , Menopausia , Obesidad/epidemiología , Obesidad Abdominal , Posmenopausia , Factores de Riesgo
8.
Bioprocess Biosyst Eng ; 45(8): 1349-1358, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-35771268

RESUMEN

Manganese peroxidase (Mn P) is capable of effectively degrading anionic polyacrylamide (HPAM). However, the interaction of Mn P with HPAM at molecular level is lacking until now. Here, the HPAM model compounds, HPAM-2, HPAM-3, HPAM-4, and HPAM-5, were selected to reveal their binding mechanisms with Mn P. The results showed that the most suitable substrate for Mn P was HPAM-5, and the main reason for MnP-HPAM-5 with maximal affinity was strong hydrogen bond. LYS96 was the important key residue in all complexes, and the number of key residue was largest in MnP-HPAM-5. The optimal THR27ILE mutant may enhance the affinity of Mn P to HPAM-4. The stability of Mn P binding to HPAM-4 was the optimal. These results were helpful in designing highly efficient Mn P against HPAM to protect the ecological environment.


Asunto(s)
Simulación de Dinámica Molecular , Peroxidasas , Resinas Acrílicas/química , Biodegradación Ambiental , Mutación , Peroxidasas/química
9.
Int J Mol Sci ; 23(24)2022 Dec 09.
Artículo en Inglés | MEDLINE | ID: mdl-36555243

RESUMEN

Fatty acid synthase (FASN) promotes tumor progression in multiple cancers. In this study, we comprehensively examined the expression, prognostic significance, and promoter methylation of FASN, and its correlation with immune cell infiltration in pan-cancer. Our results demonstrated that elevated FASN expression was significantly associated with an unfavorable prognosis in many cancer types. Furthermore, FASN promoter DNA methylation can be used as a tumor prognosis marker. Importantly, high levels of FASN were significantly negatively correlated with tumor immune infiltration in 35 different cancers. Additionally, FASN was significantly associated with tumor mutational burden (TMB) and microsatellite instability (MSI) in multiple malignancies, suggesting that it may be essential for tumor immunity. We also investigated the effects of FASN expression on immunotherapy efficacy and prognosis. In up to 15 tumors, it was significantly negatively correlated with immunotherapy-related genes, such as PD-1, PD-L1, and CTLA-4. Moreover, we found that tumors with high FASN expression may be more sensitive to immunotherapy and have a good prognosis with PD-L1 treatment. Finally, we confirmed the tumor-suppressive effect of mir-195-5p through FASN. Altogether, our results suggested that FASN may serve as a novel prognostic indicator and immunotherapeutic target in various malignancies.


Asunto(s)
Metilación de ADN , Neoplasias , Humanos , Antígeno B7-H1 , Pronóstico , Ácido Graso Sintasas , Neoplasias/genética , Neoplasias/terapia , Inmunoterapia , Biomarcadores de Tumor/genética , Acido Graso Sintasa Tipo I/genética
10.
Artif Organs ; 45(3): 289-296, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-32979870

RESUMEN

Lung infection (LI) often occurs in patients with liver transplantation (LT). This meta-analysis was conducted to determine the risk factors associated with LI after LT. We retrieved relevant research published as of February 2020 from eight electronic databases. The studies were reviewed against the inclusion and exclusion criteria. The Z test was used to determine the combined odds ratio (OR) or the standardized mean difference (SMD) of the risk factors. We used the OR and its corresponding 95% confidence interval (CI) or the SMD and its corresponding 95% CI to identify significant differences in risk factors. A total of nine studies were included, comprising a total of 1624 recipients. Six risk factors associated with LI were identified after LT: Model for end-stage liver disease score (MELD score) (SMD = 0.40), Child-Pugh class C (OR = 3.00), intensive care unit (ICU) hospital stay (SMD = 1.35), mechanical ventilation (SMD = 1.03), bilirubin (SMD = 0.39), and atelectasis (OR = 7.28). Although certain risk factors have been identified as important factors for LI after LT, which may provide a basis for clinical prevention, a well-designed prospective study should be conducted to validate the findings of this study.


Asunto(s)
Enfermedad Hepática en Estado Terminal/cirugía , Trasplante de Hígado/efectos adversos , Neumonía/epidemiología , Complicaciones Posoperatorias/epidemiología , Atelectasia Pulmonar/epidemiología , Bilirrubina/sangre , Enfermedad Hepática en Estado Terminal/sangre , Enfermedad Hepática en Estado Terminal/complicaciones , Enfermedad Hepática en Estado Terminal/diagnóstico , Humanos , Unidades de Cuidados Intensivos/estadística & datos numéricos , Tiempo de Internación/estadística & datos numéricos , Pruebas de Función Hepática , Neumonía/diagnóstico , Neumonía/microbiología , Complicaciones Posoperatorias/diagnóstico , Complicaciones Posoperatorias/microbiología , Atelectasia Pulmonar/etiología , Respiración Artificial/efectos adversos , Respiración Artificial/estadística & datos numéricos , Medición de Riesgo/estadística & datos numéricos , Factores de Riesgo , Índice de Severidad de la Enfermedad
11.
New Phytol ; 225(5): 2108-2121, 2020 03.
Artículo en Inglés | MEDLINE | ID: mdl-31622519

RESUMEN

Epigenetic modifications have emerged as an important mechanism underlying plant defence against pathogens. We examined the role of JMJ14, a Jumonji (JMJ) domain-containing H3K4 demethylase, in local and systemic plant immune responses in Arabidopsis. The function of JMJ14 in local or systemic defence response was investigated by pathogen growth assays and by analysing expression and H3K4me3 enrichments of key defence genes using qPCR and ChIP-qPCR. Salicylic acid (SA) and pipecolic acid (Pip) levels were quantified and function of JMJ14 in SA- and Pip-mediated defences was analysed in Col-0 and jmj14 plants. jmj14 mutants were compromised in both local and systemic defences. JMJ14 positively regulates pathogen-induced H3K4me3 enrichment and expression of defence genes involved in SA- and Pip-mediated defence pathways. Consequently, loss of JMJ14 results in attenuated defence gene expression and reduced Pip accumulation during establishment of systemic acquired resistance (SAR). Exogenous Pip partially restored SAR in jmj14 plants, suggesting that JMJ14 regulated Pip biosynthesis and other downstream factors regulate SAR in jmj14 plants. JMJ14 positively modulates defence gene expressions and Pip levels in Arabidopsis.


Asunto(s)
Proteínas de Arabidopsis , Arabidopsis , Histona Demetilasas con Dominio de Jumonji , Ácidos Pipecólicos , Arabidopsis/genética , Arabidopsis/metabolismo , Proteínas de Arabidopsis/genética , Proteínas de Arabidopsis/metabolismo , Expresión Génica , Regulación de la Expresión Génica de las Plantas , Histona Demetilasas con Dominio de Jumonji/genética , Histona Demetilasas con Dominio de Jumonji/metabolismo , Enfermedades de las Plantas/genética , Inmunidad de la Planta , Ácido Salicílico/farmacología
12.
Transpl Infect Dis ; 22(4): e13285, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32329139

RESUMEN

OBJECTIVE: To compare the chest CT patterns of acute graft-versus-host disease (aGVHD) and infections within 100 days after allogeneic hematopoietic stem cell transplantation (allo-HSCT) in pediatric recipients to help hematologist make definitive diagnosis as early as possible. METHODS: A total of 143 pediatric recipients from January 2015 to June 2019 who were diagnosed pulmonary aGVHD or infections within 100 days after allo-HSCT were enrolled in this study. Two observers evaluated the extent and distribution (unilateral, bilateral) of the CT patterns. The patterns were then classified as ground-glass opacity (GGO) (localized, patchy, diffuse), consolidation (localized, patchy, diffuse), reticulation (localized, patchy, diffuse), nodules (localized, multiple), bronchiectasis, pleural effusion, air trapping, tree-in-bud sign, and pneumomediastinum. The onset time and radiological patterns of the two cohorts were statistically compared. RESULTS: The mean onset time of aGVHD (n = 85) and infections group (viral n = 29, bacterial n = 22, fungal n = 7, total n = 58) was 36.89 ± 24.34 (range, 10-99 days) and 23.48 ± 20.65 days (range, 4-94 days) with a significant difference (P = .001). The top three underlying diseases were acute lymphoblastic leukemia (ALL) (n = 49, 57.6%); acute myeloid leukemia (AML) (n = 24, 28.2%); and aplastic anemia (AA) (7.1%) in aGVHD group and hemophagocytic syndrome (HPS) (n = 33, 56.9%); AA (n = 9, 15.5%); and ALL (n = 6, 10.3) in infection group. GGO (41.2%) in aGVHD prevailed on CT, whereas GGO (53.4%) and consolidations (43.1%) were more prevalent in infections. The distribution of GGO showed more diffuse in aGVHD (P = .031) and symmetric while patchier GGO prefers infections (P < .001). No differences were found in the reticulation. Nodules were more common in infections (P = .004) while pleural effusion was more common in aGVHD group (P < .035). CONCLUSION: Imaging patterns of aGVHD on CT differ substantially from that of infections. Physicians and radiologists should be aware of such radiological differences in order to give accurate treatment. Notably, definite diagnosis should be made in combination with clinical manifestations, signs, and laboratory tests.


Asunto(s)
Enfermedad Injerto contra Huésped/diagnóstico por imagen , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Infecciones del Sistema Respiratorio/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Infecciones Bacterianas/diagnóstico por imagen , Niño , Preescolar , Femenino , Humanos , Lactante , Enfermedades Pulmonares Fúngicas/diagnóstico por imagen , Masculino , Infecciones del Sistema Respiratorio/microbiología , Infecciones del Sistema Respiratorio/virología , Estudios Retrospectivos , Tórax/diagnóstico por imagen , Tórax/microbiología , Tórax/virología , Trasplante Homólogo/efectos adversos , Virosis/diagnóstico por imagen
13.
Bioorg Med Chem ; 27(5): 677-685, 2019 03 01.
Artículo en Inglés | MEDLINE | ID: mdl-30733087

RESUMEN

Protein kinases have been important targets for antitumor targets due to their key roles in regulating multiple cell signaling pathways. Numerous compounds containing flavonoid scaffold as an indispensable anchor have been found to be potent inhibitors of protein kinases. Some of these flavonoids have been in clinical research as protein kinases inhibitors. Thus, the present review mainly focuses on the structural requirement for anticancer potential of flavone derivatives targeting several key serine/threonine protein kinases. This information may provide an opportunity to scientists of medicinal chemistry to design multi-functional flavone derivatives for the treatment of cancer.


Asunto(s)
Antineoplásicos/uso terapéutico , Flavonas/uso terapéutico , Neoplasias/tratamiento farmacológico , Inhibidores de Proteínas Quinasas/uso terapéutico , Proteínas Serina-Treonina Quinasas/antagonistas & inhibidores , Animales , Antineoplásicos/química , Antineoplásicos/metabolismo , Flavonas/química , Flavonas/metabolismo , Humanos , Unión Proteica , Inhibidores de Proteínas Quinasas/química , Inhibidores de Proteínas Quinasas/metabolismo , Proteínas Serina-Treonina Quinasas/química , Proteínas Serina-Treonina Quinasas/metabolismo
14.
Zhongguo Dang Dai Er Ke Za Zhi ; 21(5): 468-473, 2019 May.
Artículo en Zh | MEDLINE | ID: mdl-31104665

RESUMEN

Mowat-Wilson syndrome (MWS) is a rare autosomal dominant genetic disease caused by zinc finger E-box-binding homeobox 2 (ZEB2) gene mutation and has various clinical manifestations including intellectual disability/global developmental delay, unusual facies and multiple congenital malformations. This article reports the clinical features and gene mutations of three children diagnosed with MWS by ZEB2 gene analysis. All three children had Hirschsprung disease and unusual facies. One child died of severe heart failure and pneumonia at the age of 4 months. Global developmental delay was not discovered by her parents due to her young age. The other two children had severe global developmental delay. All three children carried a de novo heterozygous nonsense mutation in the ZEB2 gene, among which c.756C>A (p.Y252X) had not been reported before. Such mutations produced truncated proteins and were highly pathogenic. MWS is presented with strong clinical and genetic heterogeneity. Clinicians should consider the possibility of MWS when a child has unusual facies of MWS, intellectual disability/global developmental delay and multiple congenital malformations. Gene detection helps to make a confirmed diagnosis.


Asunto(s)
Facies , Enfermedad de Hirschsprung , Discapacidad Intelectual , Microcefalia , Femenino , Proteínas de Homeodominio , Humanos , Proteínas Represoras
15.
ScientificWorldJournal ; 2015: 125958, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26351652

RESUMEN

This paper concentrates on estimating the risk of Title Transfer Facility (TTF) Hub natural gas portfolios by using the GARCH-EVT-copula model. We first use the univariate ARMA-GARCH model to model each natural gas return series. Second, the extreme value distribution (EVT) is fitted to the tails of the residuals to model marginal residual distributions. Third, multivariate Gaussian copula and Student t-copula are employed to describe the natural gas portfolio risk dependence structure. Finally, we simulate N portfolios and estimate value at risk (VaR) and conditional value at risk (CVaR). Our empirical results show that, for an equally weighted portfolio of five natural gases, the VaR and CVaR values obtained from the Student t-copula are larger than those obtained from the Gaussian copula. Moreover, when minimizing the portfolio risk, the optimal natural gas portfolio weights are found to be similar across the multivariate Gaussian copula and Student t-copula and different confidence levels.

16.
Int J Biol Macromol ; 270(Pt 1): 131917, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38679252

RESUMEN

Enzymatic degradation of alginate for the preparation of alginate oligosaccharides (AOS) is currently receiving significant attention in the field. AOS has been shown to promote crop growth and improve plant resistance to abiotic stresses. In this study, two PL6 family alginate lyases, AlyRmA and AlyRmB, were expressed and characterized. These enzymes demonstrate exceptional activity and stable thermophilicity compared to other known alginate lyases. AlyRmA (8855.34 U/mg) and AlyRmB (7879.44 U/mg) exhibited excellent degradation activity towards sodium alginate even at high temperatures (70 °C). The AlyRmA and AlyRmB were characterized and utilized to efficiently produce AOS. The study investigated the promotional effect of AOS on the growth of Brassica napus L. seedlings in a saline-alkaline environment. The results of this study demonstrate the high activity and thermal stability of AlyRmA and AlyRmB, highlighting their potential in the preparation of AOS. Moreover, the application of AOS prepared by AlyRmB could enhance the resistance of Brassica napus L. to saline-alkali environments, thereby broadening the potential applications of AOS.


Asunto(s)
Alginatos , Brassica napus , Oligosacáridos , Polisacárido Liasas , Brassica napus/enzimología , Alginatos/química , Oligosacáridos/química , Oligosacáridos/farmacología , Polisacárido Liasas/metabolismo , Polisacárido Liasas/química , Álcalis/química , Estabilidad de Enzimas/efectos de los fármacos , Temperatura , Concentración de Iones de Hidrógeno , Salinidad , Plantones/efectos de los fármacos , Plantones/crecimiento & desarrollo , Plantones/metabolismo
17.
Infect Drug Resist ; 17: 2337-2349, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38882652

RESUMEN

Background: Sepsis refers to a life-threatening organ dysfunction which can be resulted from the infection-induced dysregulated host response. A large number of inflammatory cytokines are released to act on the liver, making the liver one of the common target organs for the development of multiple organ dysfunction syndrome (MODS) in patients with sepsis. Sepsis-induced acute liver injury (SALI) can aggravate systemic disease. As a result, it is of great clinical significance to comprehend the molecular biological mechanism of SALI and to identify the markers for evaluating SALI. Interferon-induced proteins with tetratricopeptide repeats 1 and 2 (IFIT1, IFIT2) have been recognized as the anti-inflammatory factors that are widely expressed in various organs. The present study was aimed at clarifying the roles of IFIT1 and IFIT2 in the development of SALI. Methods: A two-sample Mendelian randomization (MR) analysis was employed. Summary statistics datas were obtained from GWAS for inflammatory factors [tumor necrosis factor (TNF-α), interleukin-1ß (IL-1ß), and interleukin-6 (IL-6)], IFIT2, and sepsis as well as liver injury. Independent SNPs were selected as instrumental variables (IVs). Inverse variance weighted (IVW) in the MR analysis was adopted as the primary method for estimating the causal associations of inflammatory factors and IFIT2 with two diseases, and the associations of inflammatory factors with IFIT2. Additionally, weighted median method, MR-Egger and sensitivity analyses were applied in assessing the robustness of the results and ensure the result reliability. Subsequently, 119 healthy volunteers, 116 patients with sepsis and 116 SALI patients were recruited. The ELISA method was employed to quantify the expression levels of TNF-α, IL-1ß, and IL-6. Additionally, qRT-PCR was conducted to measure the expression of IFIT1 and IFIT2. Furthermore, the correlations of IFIT1 and IFIT2 with inflammatory factors, alanine aminotransferase (ALT) and aspartate aminotransferase (AST) were explored. Results: As shown by the MR analysis, the genetically predisposed sepsis was significantly associated with the risk of IL-1ß, with an odds ratio (OR) of 1.069 (95% confidence interval (CI), 1.015-1.127, p = 0.0119), and negatively associated with the risk of IL-6, with an OR of 0.880 (95% CI: 0.792-0.979, p= 0.0184). Meanwhile, there were positive causal effects of IL-6 (OR = 1.269, 95% CI: 1.032-1.561, p= 0.0238), IL-1ß (OR = 1.106, 95% CI: 1.010-1.211, p = 0.0299) and IFIT2 (OR = 1.191, 95% CI: 1.045-1.359, p = 0.0090) on liver injury. Additionally, there was a positive causal effect of IFIT2 (OR = 1.164, 95% CI: 1.035-1.309, p= 0.0110) on IL-1ß. Upon sensitivity analyses, there was weak evidence of such effects, indicating that the findings of this study were robust and reliable. Our results revealed the elevated levels of TNF-α, IL-1ß, and IL-6 in the blood samples of sepsis and SALI patients (p < 0.0001). Conversely, IFIT1 and IFIT2 demonstrated the significantly decreased levels in peripheral blood mononuclear cells (PBMCs) of SALI patients (p < 0.0001). Furthermore, the expression levels of IFIT1 and IFIT2 were both negatively correlated with ALT activity (r = -0.3426, p = 0.0002; r = -0.3069, p = 0.0008) and AST activity (r = -0.2483, p = 0.0072; r = -0.3261, p = 0.0004), respectively. Moreover, the expression of IFIT1 and IFIT2 was both negatively related to the levels of TNF-α (r = -0.5027, p < 0.0001; r = -0.4218, p < 0.0001), IL-1ß (r = -0.3349, p = 0.0002; r = -0.4070, p < 0.0001) and IL-6 (r = -0.2734, p = 0.0030; r = -0.3536, p < 0.0001), respectively. Conclusion: IFIT1 and IFIT2 can serve as the diagnostic markers for sepsis-related liver injury, and IFIT1 and IFIT2 may participate in the pathological process of sepsis-related liver injury by regulating inflammation and liver function.

18.
Food Chem X ; 22: 101482, 2024 Jun 30.
Artículo en Inglés | MEDLINE | ID: mdl-38817978

RESUMEN

Fruits are recognized as healthy foods with abundant nutritional content. However, due to their high content of sugar and water, they are easily contaminated by microorganisms leading to spoilage. Probiotic fermentation is an effective method to prevent fruit spoilage. In addition, during fermentation, the probiotics can react with the nutrients in fruits to produce new derived compounds, giving the fruit specific flavor, enhanced color, active ingredients, and nutritional values. Noteworthy, the choice of fermentation strains and strategies has a significant impact on the quality of fermented fruits. Thus, this review provides comprehensive information on the fermentation strains (especially yeast, lactic acid bacteria, and acetic acid bacteria), fermentation strategies (natural or inoculation fermentation, mono- or mixed-strain inoculation fermentation, and liquid- or solid-state fermentation), and the effect of fermentation on the shelf life, flavor, color, functional components, and physiological activities of fruits. This review will provide a theoretical guidance for the production of fermented fruits.

19.
Rice (N Y) ; 17(1): 36, 2024 May 23.
Artículo en Inglés | MEDLINE | ID: mdl-38780864

RESUMEN

BACKGROUND: Yield and quality are the two most important traits in crop breeding. Exploring the regulatory mechanisms that affect both yield and quality traits is of great significance for understanding the molecular genetic networks controlling these key crop attributes. Expansins are cell wall loosening proteins that play important roles in regulating rice grain size. RESULTS: We investigated the effect of OsEXPA7, encoding an expansin, on rice grain size and quality. OsEXPA7 overexpression resulted in increased plant height, panicle length, grain length, and thousand-grain weight in rice. OsEXPA7 overexpression also affected gel consistency and amylose content in rice grains, thus affecting rice quality. Subcellular localization and tissue expression analyses showed that OsEXPA7 is localized on the cell wall and is highly expressed in the panicle. Hormone treatment experiments revealed that OsEXPA7 expression mainly responds to methyl jasmonate, brassinolide, and gibberellin. Transcriptome analysis and RT-qPCR experiments showed that overexpression of OsEXPA7 affects the expression of OsJAZs in the jasmonic acid pathway and BZR1 and GE in the brassinosteroid pathway. In addition, OsEXPA7 regulates the expression of key quantitative trait loci related to yield traits, as well as regulates the expression levels of BIP1 and bZIP50 involved in the seed storage protein biosynthesis pathway. CONCLUSIONS: These results reveal that OsEXPA7 positively regulates rice yield traits and negatively regulates grain quality traits by involving plant hormone pathways and other trait-related pathway genes. These findings increase our understanding of the potential mechanism of expansins in regulating rice yield and quality traits and will be useful for breeding high-yielding and high-quality rice cultivars.

20.
J Phys Chem B ; 127(8): 1811-1818, 2023 03 02.
Artículo en Inglés | MEDLINE | ID: mdl-36802619

RESUMEN

Nucleic acids, as important substances for biological inheritance, have attracted extensive attention in the biomedical field. More and more cyanine dyes are emerging as one of the probe tools for nucleic acid detection due to their excellent photophysical properties. Here, we discovered that the insertion of the AGRO100 sequence can specifically disrupt the twisted intramolecular charge transfer (TICT) mechanism of the trimethine cyanine dye (TCy3), resulting in a clear "turn-on" response. Moreover, the fluorescence enhancement of TCy3 combined with the T-rich AGRO100 derivative is more obvious. One explanation for the interaction between dT (deoxythymidine) and positively charged TCy3 may be that its outer layer carries the most negative charge. This study provides a theoretical basis for the use of TCy3 as a DNA probe, which has promising applications in the DNA detection of biological samples. It also provides the basis for the following construction of probes with specific ability for recognition.


Asunto(s)
Colorantes , Colorantes Fluorescentes , Fluorescencia , Carbocianinas
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