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1.
Genes Chromosomes Cancer ; 63(7): e23258, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-39011998

RESUMEN

Lung cancer is the leading cause of cancer-related deaths globally. Gene fusion, a key driver of tumorigenesis, has led to the identification of numerous driver gene fusions for lung cancer diagnosis and treatment. However, previous studies focused on Western populations, leaving the possibility of unrecognized lung cancer-associated gene fusions specific to Inner Mongolia due to its unique genetic background and dietary habits. To address this, we conducted DNA sequencing analysis on tumor and adjacent nontumor tissues from 1200 individuals with lung cancer in Inner Mongolia. Our analysis established a comprehensive fusion gene landscape specific to lung cancer in Inner Mongolia, shedding light on potential region-specific molecular mechanisms underlying the disease. Compared to Western cohorts, we observed a higher occurrence of ALK and RET fusions in Inner Mongolian patients. Additionally, we discovered eight novel fusion genes in three patients: SLC34A2-EPHB1, CCT6P3-GSTP1, BARHL2-APC, HRAS-MELK, FAM134B-ERBB2, ABCB1-GIPC1, GPR98-ALK, and FAM134B-SALL1. These previously unreported fusion genes suggest potential regional specificity. Furthermore, we characterized the fusion genes' structures based on breakpoints and described their impact on major functional gene domains. Importantly, the identified novel fusion genes exhibited significant clinical and pathological relevance. Notably, patients with SLC34A2-EPHB1, CCT6P3-GSTP1, and BARHL2-APC fusions showed sensitivity to the combination of chemotherapy and immunotherapy. Patients with HRAS-MELK, FAM134B-ERBB2, and ABCB1-GIPC1 fusions showed sensitivity to chemotherapy. In summary, our study provides novel insights into the frequency, distribution, and characteristics of specific fusion genes, offering valuable guidance for the development of effective clinical treatments, particularly in Inner Mongolia.


Asunto(s)
Neoplasias Pulmonares , Proteínas de Fusión Oncogénica , Humanos , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/patología , Masculino , Femenino , China , Proteínas de Fusión Oncogénica/genética , Persona de Mediana Edad , Anciano , Adulto
2.
J Mol Cell Cardiol ; 186: 94-106, 2024 01.
Artículo en Inglés | MEDLINE | ID: mdl-38000204

RESUMEN

Myocardial ischemia-reperfusion injury (MIRI) is closely related to the final infarct size in acute myocardial infarction (AMI). Therefore, reducing MIRI can effectively improve the prognosis of AMI patients. At the same time, the healing process after AMI is closely related to the local inflammatory microenvironment. Regulatory T cells (Tregs) can regulate various physiological and pathological immune inflammatory responses and play an important role in regulating the immune inflammatory response after AMI. However, different subtypes of Tregs have different effects on MIRI, and the same subtype of Tregs may also have different effects at different stages of MIRI. This article systematically reviews the classification and function of Tregs, as well as the role of various subtypes of Tregs in MIRI. A comprehensive understanding of the role of each subtype of Tregs can help design effective methods to control immune reactions, reduce MIRI, and provide new potential therapeutic options for AMI.


Asunto(s)
Infarto del Miocardio , Daño por Reperfusión Miocárdica , Humanos , Daño por Reperfusión Miocárdica/patología , Linfocitos T Reguladores , Infarto del Miocardio/terapia
3.
Small ; : e2401545, 2024 Jun 05.
Artículo en Inglés | MEDLINE | ID: mdl-38837884

RESUMEN

Polar metal halide hybrid perovskites (PHPs) that exhibit outstanding bulk photovoltaic effect (BPVE), excellent semiconductor features, and strong radiation absorption ability, have shown prominent advantages in highly sensitive direct X-ray detection. However, it is still a challenge to explore PHPs with high BPVE temperature ranges, answering the demand of developing thermally stable passive X-ray detection. Herein, by intercalating arylamine into lead tribromide and inducing order-disorder phase transition, a 2D multilayered PHPs (BZA)2(MA)Pb2Br7 (BZPB, BZA = benzylamine, MA = methylamine) is synthesized. BZPB crystallizes in a polar space group Aea2 at a low-temperature phase and demonstrates a significant open-circuit of 0.3 V deriving from BPVE under X-ray irradiation. Meanwhile, the strong X-ray absorption coefficient and outstanding carrier transport capability of the bilayered lead halide framework associated with the polar BPVE give BZPB excellent X-ray detection abilities. At 0 V bias, the impressive sensitivity of BZPB is 98 µC Gy-1 cm-2. Importantly, the introduction of the rigid BZA ring increases the energy barrier of phase transition and thus dramatically enhances the X-ray detection operating temperature of BZPB up to 409 K without significant performance degradation. This work strongly reveals the great potential of rational design of metal halide hybrid perovskites for X-ray detection applications.

4.
Cell Commun Signal ; 22(1): 333, 2024 Jun 18.
Artículo en Inglés | MEDLINE | ID: mdl-38890642

RESUMEN

Glioblastoma (GBM) is the most common malignant brain tumor and has a dismal prognosis even under the current first-line treatment, with a 5-year survival rate less than 7%. Therefore, it is important to understand the mechanism of treatment resistance and develop new anti-tumor strategies. Induction of programmed cell death (PCD) has become a promising anti-tumor strategy, but its effectiveness in treating GBM remains controversial. On the one hand, PCD triggers tumor cell death and then release mediators to draw in immune cells, creating a pro-inflammatory tumor microenvironment (TME). One the other hand, mounting evidence suggests that PCD and inflammatory TME will force tumor cells to evolve under survival stress, leading to tumor recurrence. The purpose of this review is to summarize the role of PCD and inflammatory TME in the tumor evolution of GBM and promising methods to overcome tumor evolution.


Asunto(s)
Neoplasias Encefálicas , Glioblastoma , Inflamación , Microambiente Tumoral , Glioblastoma/patología , Glioblastoma/genética , Humanos , Inflamación/patología , Neoplasias Encefálicas/patología , Neoplasias Encefálicas/genética , Apoptosis , Animales
5.
BMC Neurol ; 24(1): 202, 2024 Jun 14.
Artículo en Inglés | MEDLINE | ID: mdl-38877400

RESUMEN

BACKGROUND: Intratumoral hemorrhage, though less common, could be the first clinical manifestation of glioma and is detectable via MRI; however, its exact impacts on patient outcomes remain unclear and controversial. The 2021 WHO CNS 5 classification emphasised genetic and molecular features, initiating the necessity to establish the correlation between hemorrhage and molecular alterations. This study aims to determine the prevalence of intratumoral hemorrhage in glioma subtypes and identify associated molecular and clinical characteristics to improve patient management. METHODS: Integrated clinical data and imaging studies of patients who underwent surgery at the Department of Neurosurgery at Peking Union Medical College Hospital from January 2011 to January 2022 with pathological confirmation of glioma were retrospectively reviewed. Patients were divided into hemorrhage and non-hemorrhage groups based on preoperative magnetic resonance imaging. A comparison and survival analysis were conducted with the two groups. In terms of subgroup analysis, we classified patients into astrocytoma, IDH-mutant; oligodendroglioma, IDH-mutant, 1p/19q-codeleted; glioblastoma, IDH-wildtype; pediatric-type gliomas; or circumscribed glioma using integrated histological and molecular characteristics, according to WHO CNS 5 classifications. RESULTS: 457 patients were enrolled in the analysis, including 67 (14.7%) patients with intratumoral hemorrhage. The hemorrhage group was significantly older and had worse preoperative Karnofsky performance scores. The hemorrhage group had a higher occurrence of neurological impairment and a higher Ki-67 index. Molecular analysis indicated that CDKN2B, KMT5B, and PIK3CA alteration occurred more in the hemorrhage group (CDKN2B, 84.4% vs. 62.2%, p = 0.029; KMT5B, 25.0% vs. 8.9%, p = 0.029; and PIK3CA, 81.3% vs. 58.5%, p = 0.029). Survival analysis showed significantly worse prognoses for the hemorrhage group (hemorrhage 18.4 months vs. non-hemorrhage 39.1 months, p = 0.01). In subgroup analysis, the multivariate analysis showed that intra-tumoral hemorrhage is an independent risk factor only in glioblastoma, IDH-wildtype (162 cases of 457 overall, HR = 1.72, p = 0.026), but not in other types of gliomas. The molecular alteration of CDK6 (hemorrhage group p = 0.004, non-hemorrhage group p < 0.001), EGFR (hemorrhage group p = 0.003, non-hemorrhage group p = 0.001), and FGFR2 (hemorrhage group p = 0.007, non-hemorrhage group p = 0.001) was associated with shorter overall survival time in both hemorrhage and non-hemorrhage groups. CONCLUSIONS: Glioma patients with preoperative intratumoral hemorrhage had unfavorable prognoses compared to their nonhemorrhage counterparts. CDKN2B, KMT5B, and PIK3CA alterations were associated with an increased occurrence of intratumoral hemorrhage, which might be future targets for further investigation of intratumoral hemorrhage.


Asunto(s)
Neoplasias Encefálicas , Glioma , Humanos , Masculino , Femenino , Glioma/complicaciones , Glioma/genética , Glioma/cirugía , Glioma/patología , Persona de Mediana Edad , Estudios Retrospectivos , Pronóstico , Adulto , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/complicaciones , Neoplasias Encefálicas/cirugía , Neoplasias Encefálicas/patología , Anciano , Estudios de Cohortes , Adulto Joven
6.
Sichuan Da Xue Xue Bao Yi Xue Ban ; 55(3): 574-579, 2024 May 20.
Artículo en Zh | MEDLINE | ID: mdl-38948297

RESUMEN

Objective: To investigate the effects of intrauterine perfusion with granulocyte colony-stimulating factor (G-CSF) on the endometrial thickness, volume, and blood flow parameters of patients with thin endometrium and their clinical outcomes. Methods: We designed a prospective non-randomized synchronous controlled trial and recruited patients with thin endometrium who underwent frozen-thawed embryo transfer (FET) at Mianyang Central Hospital between September 1, 2021 and September 1, 2023. They were divided into two groups, an experimental group of patients who received the experimental treatment of intrauterine perfusion with G-CSF and a control group of patients who did not receive the experimental treatment. The general data and the clinical outcomes of the two groups were analyzed and compared. The endometrial thickness, volume and blood flow parameters of patients in the experimental group before and after intrauterine perfusion with G-CSF were analyzed. Results: The clinical data of 83 patients were included in the study. The experimental group included 51 cases, while the control group included 31 cases. There were no significant differences in the baseline data between the two groups. The clinical pregnancy rate of the experimental group (56.86%) was higher than that of the control group (50.00%) and the rate of spontaneous abortion in the experimental group (27.59%) was lower than that in the control group (37.50%), but the differences were not statistically significant (P>0.05). In the experimental group, the postperfusion endometrial thickness ([0.67±0.1] cm) was greater than the preperfusion endometrial thickness ([0.59±0.09] cm), the postperfusion ([1.84±0.81] cm3) was greater than the preperfusion endometrial volume ([1.54±0.69] cm3), and the postperfusion vascularization flow index (VFI) (1.97±2.82) was greater than the preperfusion VFI (0.99±1.04), with all the differences being statistically significant (P<0.05). Conclusion: Intrauterine perfusion with G-CSF can enhance the endometrial thickness, volume, and some blood flow parameters in patients with thin endometrium.


Asunto(s)
Transferencia de Embrión , Endometrio , Factor Estimulante de Colonias de Granulocitos , Índice de Embarazo , Humanos , Femenino , Endometrio/irrigación sanguínea , Factor Estimulante de Colonias de Granulocitos/administración & dosificación , Factor Estimulante de Colonias de Granulocitos/uso terapéutico , Factor Estimulante de Colonias de Granulocitos/farmacología , Estudios Prospectivos , Embarazo , Transferencia de Embrión/métodos , Adulto , Perfusión
7.
Int Microbiol ; 26(3): 639-650, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-36773196

RESUMEN

Quorum sensing (QS) is a core mechanism for bacteria to regulate biofilm formation, and therefore, QS inhibition or quorum quenching (QQ) is used as an effective and economically feasible strategy against biofilms. In this study, the PvdQ gene encoding AHL acylase was introduced into Escherichia coli (DE3), and a PvdQ-engineered bacterium with highly efficient QQ activity was obtained and used to inhibit biofilm formation. Gene sequencing and western blot analysis showed that the recombinant pET-PvdQ strain was successfully constructed. The color reaction of Agrobacterium tumefaciens A136 indicated that PvdQ engineering bacteria had shown strong AHL signal molecule quenching activity and significantly inhibited the adhesion (motility) of Pseudomonas aeruginosa and biofilm formation of activated sludge bacteria in Membrane Bio-Reactor (MBR; inhibition rate 51-85%, p < 0.05). In addition, qRT-PCR testing revealed that recombinant PvdQ acylase significantly reduced the transcription level of QS biofilm formation-related genes (cdrA, pqsA, and lasR; p < 0.05). In this study, QQ genetically engineered bacteria enhanced by genetic engineering could effectively inhibit the QS signal transduction mechanism and have the potential to control biofilm formation of pathogenic bacteria in the aquaculture environment, providing an environmentally friendly and alternative antibiotic strategy to suppress biofilm contamination.


Asunto(s)
Biopelículas , Percepción de Quorum , Bacterias , Aguas del Alcantarillado/microbiología , Pseudomonas aeruginosa/genética
8.
Int J Colorectal Dis ; 38(1): 126, 2023 May 12.
Artículo en Inglés | MEDLINE | ID: mdl-37171498

RESUMEN

BACKGROUND AND AIMS: Body composition changes in patients with Crohn's disease (CD) have received increasing attention in recent years. This review aims to describe the changes in body composition in patients with CD on imaging and to analyze and summarize the prognostic value of body composition. METHODS: We systematically searched Web of Science, PubMed, Embase, Cochrane Library, and Medline via OVID for literature published before November 2022, and two researchers independently evaluated the quality of the retrieved literature. RESULTS: A total of 39 publications (32 cohort studies and 7 cross-sectional studies) involving 4219 patients with CD were retrieved. Imaging methods for body composition assessment, including dual-energy X-ray absorptiometry (DXA), computed tomography (CT) and magnetic resonance imaging (MRI), were included in this review. The study found that patients with CD typically have more visceral adipose tissue and less skeletal muscle mass, and the prevalence of sarcopenia and visceral obesity was significantly different in different studies (sarcopenia: 16-100%; visceral obesity: 5.3-30.5%). Available studies suggest that changes in the body composition of CD patients are significantly related to inflammatory status, disease behavior, poor outcomes, and drug efficacy. CONCLUSION: Altered body composition can be a significant predictor of poor outcomes for CD patients. Therefore, the body composition of CD patients may serve as a potential therapeutic target to help optimize disease management strategies in clinical practice.


Asunto(s)
Enfermedad de Crohn , Sarcopenia , Humanos , Enfermedad de Crohn/complicaciones , Enfermedad de Crohn/diagnóstico por imagen , Obesidad Abdominal , Estudios Transversales , Composición Corporal
9.
Plant Cell Rep ; 42(11): 1809-1824, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37733273

RESUMEN

KEY MESSAGE: Multiple regulatory pathways of T. chinensis to salt stress were identified through transcriptome data analysis. Tamarix chinensis (Tamarix chinensis Lour.) is a typical halophyte capable of completing its life cycle in soils with medium to high salinity. However, the mechanisms underlying its resistance to high salt stress are still largely unclear. In this study, transcriptome profiling analyses in different organs of T. chinensis plants in response to salt stress were carried out. A total number of 2280, 689, and 489 differentially expressed genes (DEGs) were, respectively, identified in roots, stems, and leaves, with more DEGs detected in roots than in stems and leaves. Gene Ontology (GO) term analysis revealed that they were significantly enriched in "biological processes" and "molecular functions". Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis revealed that "Beta-alanine metabolism" was the most differentially enriched pathway in roots, stems, and leaves. In pair-to-pair comparison of the most differentially enriched pathways, a total of 14 pathways, including 5 pathways in roots and leaves, 6 pathways in roots and stems, and 3 pathways in leaves and stems, were identified. Furthermore, genes encoding transcription factor, such as bHLH, bZIP, HD-Zip, MYB, NAC, WRKY, and genes associated with oxidative stress, starch and sucrose metabolism, and ion homeostasis, were differentially expressed with distinct organ specificity in roots, stems, and leaves. Our findings in this research provide a novel approach for exploring the salt tolerance mechanism of halophytes and identifying new gene targets for the genetic breeding of new plant cultivars with improved resistance to salt stress.


Asunto(s)
Tamaricaceae , Tamaricaceae/genética , Regulación de la Expresión Génica de las Plantas , Fitomejoramiento , Perfilación de la Expresión Génica , Estrés Salino/genética , Transcriptoma/genética , Raíces de Plantas/genética , Raíces de Plantas/metabolismo
10.
Aging Clin Exp Res ; 35(12): 2951-2960, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37864763

RESUMEN

BACKGROUND: Early identification of elderly patients undergoing non-cardiac surgery who may be at high risk for postoperative cognitive dysfunction (POCD) can increase the chances of prevention for them, as extra attention and limited resources can be allocated more to these patients. AIM: We performed this analysis with the aim of developing a simple, clinically useful machine learning (ML) model to predict the probability of POCD at 3 months in elderly patients after non-cardiac surgery. METHODS: We collected information on patients who received surgical treatment at Nanjing First Hospital from May 2020 to May 2021. We used LASSO regression to select key features and built 5 ML models to assess the risk of POCD at 3 months in elderly patients after non-cardiac surgery. The Shapley Additive exPlanations (SHAP) and methods were introduced to interpret the best model. RESULTS: A total of 415 patients with non-cardiac surgery were included. The support vector machine (SVM) was the best-performing model of the five ML models. The model showed excellent performance compared to the other four models. The SHAP results showed that VAS score, age, intraoperative hypotension, and preoperative hemoglobin were the four most important features, indicating that the SVM model had good interpretability and reliability. The website of the web-based calculator was https://modricreagan-non-3-pocd-9w2q78.streamlit.app/ . CONCLUSION: Based on six important perioperative variables, we successfully established a series of ML models for predicting POCD occurrence at 3 months after surgery in elderly non-cardiac patients, with SVM model being the best-performing model. Our models are expected to serve as decision aids for clinicians to monitor screened high-risk patients more closely or to consider further interventions.


Asunto(s)
Disfunción Cognitiva , Complicaciones Cognitivas Postoperatorias , Humanos , Anciano , Complicaciones Cognitivas Postoperatorias/etiología , Complicaciones Posoperatorias/etiología , Complicaciones Posoperatorias/epidemiología , Reproducibilidad de los Resultados , Medición de Riesgo , Aprendizaje Automático , Disfunción Cognitiva/diagnóstico , Disfunción Cognitiva/etiología , Disfunción Cognitiva/epidemiología
11.
Acta Biochim Biophys Sin (Shanghai) ; 55(9): 1434-1444, 2023 Jul 20.
Artículo en Inglés | MEDLINE | ID: mdl-37475549

RESUMEN

Primary cilia are formed in nearly all growth-arrested cells and are essential for mammalian development and tissue homeostasis. Defects in primary cilia result in a range of disorders in humans, named ciliopathies. The spatiotemporal localization of RABIN8 on the pericentrosome is an early step in ciliogenesis. Here, we show that CENTLEIN depletion causes the persistent accumulation of RABIN8 on the pericentrosome and primary cilium loss in hTERT-immortalized retinal pigment epithelial cells and murine embryonic fibroblasts. CENTLEIN interacts with RABIN8 directly. A stretch of a 31-amino acid sequence located in the 200‒230 region of the RABIN8 GEF domain is responsible for its physical interaction with CENTLEIN, while expression of the full-length but not the internal deletion lacking the RABIN8-binding site of CENTLEIN largely rescues the ciliogenesis defect provoked by CENTLEIN depletion. Expression of activated RAB8A partially reverses cilium loss in CENTLEIN-null RPE1 cells, so the functional importance of the CENTLEIN-RABIN8 interaction is defined.


Asunto(s)
Cilios , Fibroblastos , Animales , Humanos , Ratones , Sitios de Unión , Cilios/metabolismo , Mamíferos , Unión Proteica
12.
J Am Chem Soc ; 144(39): 18062-18068, 2022 Oct 05.
Artículo en Inglés | MEDLINE | ID: mdl-36150159

RESUMEN

Chiral hybrid perovskites (CHPs), aggregating chirality and favorable semiconducting properties in one, have taken a prominent position in direct circularly polarized light detection (CPL). However, passive high circular polarization sensitivity (gres) photodetection in CHPs is still elusive and challenging. Benefitting from efficient control and turning of carrier transport of CHPs by dimensional engineering, here, we unprecedentedly proposed a chain-to-layer dimensionality engineering to realize high-gres passive photodetection. Two novel 2D layered CHPs (R/S-PPA)EAPbBr4 (2R/2S) (PPA = 1-phenylpropylamine, EA = ethylammonium) are successfully synthesized by alloying an EA cation with small steric hindrance into the chained CHPs (R/S-PPA)PbBr3 (1R/1S). Particularly, compared with the neglectable photoresponse in 1R, the obtained 2R by chain-to-layer dimensionality engineering gives rise to an excellent photoconductivity and robust polar photovoltage effect (PPE) with a giant open-circuit voltage of 2.5 V. Furthermore, such PPE promotes realizing an impressive gres in 2R up to 0.42 at zero bias because of the independent separation of photoexcited carriers, which is the highest value among the reported layered chiral perovskites. This work paves the way for the vigorous development of higher dimensional CHPs and will reveal their applications in the field of passive high-gres CPL detection.

13.
Plant Physiol ; 187(4): 2296-2310, 2021 12 04.
Artículo en Inglés | MEDLINE | ID: mdl-34601582

RESUMEN

AKT2 potassium (K+) channels are members of the plant Shaker family which mediate dual-directional K+ transport with weak voltage-dependency. Here we show that OsAKT2 of rice (Oryza sativa) functions mainly as an inward rectifier with strong voltage-dependency and acutely suppressed outward activity. This is attributed to the presence of a unique K191 residue in the S4 domain. The typical bi-directional leak-like property was restored by a single K191R mutation, indicating that this functional distinction is an intrinsic characteristic of OsAKT2. Furthermore, the opposite R195K mutation of AtAKT2 changed the channel to an inward-rectifier similar to OsAKT2. OsAKT2 was modulated by OsCBL1/OsCIPK23, evoking the outward activity and diminishing the inward current. The physiological relevance in relation to the rectification diversity of OsAKT2 was addressed by functional assembly in the Arabidopsis (Arabidopsis thaliana) akt2 mutant. Overexpression (OE) of OsAKT2 complemented the K+ deficiency in the phloem sap and leaves of the mutant plants but did not significantly contribute to the transport of sugars. However, the expression of OsAKT2-K191R overcame both the shortage of phloem K+ and sucrose of the akt2 mutant, which was comparable to the effects of the OE of AtAKT2, while the expression of the inward mutation AtAKT2-R195K resembled the effects of OsAKT2. Additionally, OE of OsAKT2 ameliorated the salt tolerance of Arabidopsis.


Asunto(s)
Proteínas de Arabidopsis/genética , Proteínas de Arabidopsis/metabolismo , Oryza/genética , Oryza/metabolismo , Floema/metabolismo , Canales de Potasio/metabolismo , Tolerancia a la Sal/fisiología , Productos Agrícolas/genética , Productos Agrícolas/metabolismo , Regulación de la Expresión Génica de las Plantas , Genes de Plantas , Mutación , Floema/genética , Canales de Potasio/genética , Tolerancia a la Sal/genética
14.
Exp Eye Res ; 224: 109243, 2022 11.
Artículo en Inglés | MEDLINE | ID: mdl-36089008

RESUMEN

PURPOSE: To investigate molecular pathogenesis of congenital ectopia lentis accompanied by various ophthalmic manifestations in a pedigree. METHODS: Three female siblings, their spouse and offspring underwent ophthalmic and general medical examinations. Genetic variants were screened with the whole exome sequencing and analyzed in either a dominant or recessive inheritance manner. Gene mutations were ascertained with the Sanger sequencing after the polymerase chain reaction. RESULTS: All three female siblings were diagnosed as the Ectopia lentis et pupillae (ELeP) through combination of clinical examination and genetic analysis. No characteristic pathological changes of skeletal, metabolic and cardiac abnormalities were observed. Thirteen genetic variants were selected out through analyzing in the dominant or recessive inheritance manner, but they were not associated with EL. Among them, ALOX15B variant may explain the skin disease in this pedigree. After inspection the known genes related to EL, novel compound heterozygous mutations (p.Ser264LeufsX37/p.Gly757ValfsX62) in ADAMTSL4 were discreetly identified in this ELeP pedigree. CONCLUSIONS: Novel compound heterozygous ADAMTSL4 variants are responsible for ELeP in the current pedigree. Correlation between ADAMTSL4 variants and ELeP was firstly established based on our 12 years follow-up studies and previous reports of ELeP and of ADAMTSL4-related eye disorders. The primary phenotypes caused by ADAMTSL4 variants include EL, EP, poor pupillary dilation, and axial elongation. Highly varying phenotypes including glaucoma, high myopia retinapathy, and poor vision and so on may be the secondary impairments. All these secondary impairments may be improved if proper clinical interventions are implemented in time.


Asunto(s)
Desplazamiento del Cristalino , Femenino , Humanos , Desplazamiento del Cristalino/diagnóstico , Desplazamiento del Cristalino/genética , Análisis Mutacional de ADN , Proteínas ADAMTS/genética , Trombospondinas/genética , Linaje , Fenotipo , Mutación
15.
Phytother Res ; 36(10): 3774-3791, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-35918855

RESUMEN

Quercetin (3,3',4',5,7-pentahydroxyflavone), a flavonoid, is widely found in fruits and vegetables and exerts broad-spectrum pharmacological effects in the liver. Many studies have explored the bioactivity of quercetin in the treatment of liver fibrosis. Hence, through a systematic review and biological mechanism evaluation, this study aimed to construct a body of preclinical evidence for the treatment of liver fibrosis using quercetin. The literature used in this study was mainly obtained from four databases, and the SYRCLE list (10 items) was used to evaluate the quality of the included literature. A meta-analysis of HA, LN, and other indicators was performed via STATA 15.0 software. Subgroup analyses based on animal species and model protocol were performed to further obtain detailed results. Moreover, the therapeutic mechanism of quercetin was summarized in a directed network form based on a comprehensive search of the literature. After screening, a total of 14 articles (comprising 15 studies) involving 254 animals were included. The results from the analysis showed that the corresponding liver function indexes, such as the levels of HA and LN, were significantly improved in the quercetin group compared with the model group, and liver function, such as the levels of AST and ALT, were also improved in the quercetin group. The species- and model-based subgroup analyses of AST and ALT revealed that quercetin exerts a significant effect. The therapeutic mechanism of quercetin was shown to be related to multiple pathways involving anti-inflammatory and antioxidant activities and lipid accumulation, including regulation of the TGF-ß, α-SMA, ROS, and P-AMPK pathways. The results showed that quercetin exerts an obvious effect on liver fibrosis, and more prominent improvement effects on liver function and liver fibrosis indicators were obtained with a dose of 5-200 mg during a treatment course ranging from 4 to 8 weeks. Quercetin might be a promising therapeutic for liver fibrosis.


Asunto(s)
Antioxidantes , Quercetina , Proteínas Quinasas Activadas por AMP/metabolismo , Animales , Antioxidantes/metabolismo , Antioxidantes/farmacología , Antioxidantes/uso terapéutico , Lípidos , Hígado , Cirrosis Hepática/tratamiento farmacológico , Quercetina/farmacología , Quercetina/uso terapéutico , Especies Reactivas de Oxígeno/metabolismo , Factor de Crecimiento Transformador beta/farmacología
16.
Int J Mol Sci ; 24(1)2022 Dec 20.
Artículo en Inglés | MEDLINE | ID: mdl-36613496

RESUMEN

The phenomenon of cross adaptation refers to the ability of plants to improve their resistance to other stress after experiencing one type of stress. However, there are limited reports on how ultraviolet radiation B (UVB) pretreatment affects the enrichment, transport, and tolerance of cadmium (Cd) in plants. Since an appropriate UVB pretreatment has been reported to change plant tolerance to stress, we hypothesized that this application could alter plant uptake and tolerance to heavy metals. In this study, a woody plant species, 84K poplar (Populus alba × Populus glandulosa), was pretreated with UVB and then subjected to Cd treatment. The RT-qPCR results indicated that the UVB-treated plants could affect the expression of Cd uptake, transport, and detoxification-related genes in plants, and that the UVB-Pretreatment induced the ability of Cd absorption in plants, which significantly enriched Cd accumulation in several plant organs, especially in the leaves and roots. The above results showed that the UVB-Pretreatment further increased the toxicity of Cd to plants in UVB-Cd group, which was shown as increased leaf malonaldehyde (MDA) and hydrogen peroxide (H2O2) content, as well as downregulated activities of antioxidant enzymes such as Superoxide Dismutase (SOD), Catalase (CAT), and Ascorbate peroxidase (APX). Therefore, poplar plants in the UVB-Cd group presented a decreased photosynthesis and leaf chlorosis. In summary, the UVB treatment improved the Cd accumulation ability of poplar plants, which could provide some guidance for the potential application of forest trees in the phytoremediation of heavy metals in the future.


Asunto(s)
Cadmio , Populus , Cadmio/metabolismo , Populus/genética , Populus/metabolismo , Peróxido de Hidrógeno/metabolismo , Rayos Ultravioleta , Antioxidantes/metabolismo , Hojas de la Planta/metabolismo , Raíces de Plantas/metabolismo , Estrés Oxidativo
17.
Appl Opt ; 60(14): 4191-4196, 2021 May 10.
Artículo en Inglés | MEDLINE | ID: mdl-33983174

RESUMEN

By analyzing the process of time delay integration dynamic imaging, we establish a model of velocity mismatch. Based on this model, we analyze the influence of different factors on the dynamic imaging process, and a modulation transfer function (MTF) is used to evaluate imaging quality. According to the simulation, the velocity mismatch and scan stage are the main factors for image quality. The MTF of the image sensor decreases with the velocity mismatch, and the scan stage increases. In addition, an image with higher contrast can be obtained in a short integration time. However, a shorter integration time leads to insufficient sampling. Furthermore, we establish a dynamic MTF testing system, and evaluate the experiment at different imaging modes. Through data comparison, the experimental data are consistent with theoretical data.

18.
Molecules ; 26(2)2021 Jan 18.
Artículo en Inglés | MEDLINE | ID: mdl-33477686

RESUMEN

Coumarins and 2H-pyran derivatives are among the most commonly found structural units in natural products. Therefore, the introduction of 2H-pyran moiety into the coumarin structural unit, i.e., dihydrocoumarin-fused dihydropyranones, is a potentially successful route for the identification of novel bioactive structures, and the synthesis of these structures has attracted continuing research interest. Herein, a chiral tertiary amine catalyzed [4 + 2] cyclization of 3-aroylcoumarines with benzyl 2,3-butadienoate was reported. In the presence of Kumar's 6'-(4-biphenyl)-ß-iso-cinchonine, the desired dihydrocoumarin-fused dihydropyranone products could be obtained in up to 97% yield and 90% ee values.


Asunto(s)
Aminas/química , Cumarinas/química , Diacetil/química , Catálisis , Ciclización , Estructura Molecular , Estereoisomerismo
19.
Opt Express ; 28(3): 3607-3618, 2020 Feb 03.
Artículo en Inglés | MEDLINE | ID: mdl-32122026

RESUMEN

Ghost imaging (GI) is an imaging technique that uses the correlation between two light beams to reconstruct the image of an object. Conventional GI algorithms require large memory space to store the measured data and perform complicated offline calculations, limiting practical applications of GI. Here we develop an instant ghost imaging (IGI) technique with a differential algorithm and an implemented high-speed on-chip IGI hardware system. This algorithm uses the signal between consecutive temporal measurements to reduce the memory requirements without degradation of image quality compared with conventional GI algorithms. The on-chip IGI system can immediately reconstruct the image once the measurement finishes; there is no need to rely on post-processing or offline reconstruction. This system can be developed into a realtime imaging system. These features make IGI a faster, cheaper, and more compact alternative to a conventional GI system and make it viable for practical applications of GI.

20.
BMC Public Health ; 20(1): 1417, 2020 Sep 17.
Artículo en Inglés | MEDLINE | ID: mdl-32943017

RESUMEN

BACKGROUND: In recent years, research on health literacy has become increasingly focused on the health care system and public health. This cross-sectional study aimed to investigate health literacy and analyse the risk factors that affect health literacy in Wuhan, China. METHODS: Multistage stratified random sampling was used to select 5304 urban and rural residents aged 15 to 69 years from 204 monitoring points in 15 districts of Wuhan. Using the Chinese Citizen Health Literacy Questionnaire (HLQ) (2018 edition), a face-to-face survey was conducted from November to December 2018. Risk factors that may affect health literacy were assessed using the Chi-square test and multivariate logistic regression models. RESULTS: The knowledge rate of health literacy was relatively low (19.3%). The knowledge rate of health-related behaviour and lifestyle (BAL, 17.3%) was the lowest of the three aspects of health literacy, and the knowledge rate of chronic diseases (CD, 19.0%) was the lowest of the six dimensions of health literacy. Respondents who lived in urban areas, had higher education levels, worked as medical staff, had a higher household income and did not suffer from chronic diseases were likely to have higher health literacy. CONCLUSIONS: The health literacy levels of citizens in Wuhan are insufficient and need to improve.


Asunto(s)
Alfabetización en Salud , Adolescente , Adulto , Anciano , China , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Encuestas y Cuestionarios , Adulto Joven
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