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High-quality, chromosome-scale genomes are essential for genomic analyses. Analyses, including 3D genomics, epigenetics, and comparative genomics rely on a high-quality genome assembly, which is often accomplished with the assistance of Hi-C data. Curation of genomes reveal that current Hi-C-assisted scaffolding algorithms either generate ordering and orientation errors or fail to assemble high-quality chromosome-level scaffolds. Here, we offer the software Puzzle Hi-C, which uses Hi-C reads to accurately assign contigs or scaffolds to chromosomes. Puzzle Hi-C uses the triangle region instead of the square region to count interactions in a Hi-C heatmap. This strategy dramatically diminishes scaffolding interference caused by long-range interactions. This software also introduces a dynamic, triangle window strategy during assembly. Initially small, the window expands with interactions to produce more effective clustering. Puzzle Hi-C outperforms available scaffolding tools.
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Algoritmos , Genómica , Programas Informáticos , Genómica/métodos , Cromosomas/genética , Humanos , GenomaRESUMEN
As one of the most important food crops in the world, rice yield is directly related to national food security. Lodging is one of the most important factors restricting rice production, and the cultivation of rice varieties with lodging resistance is of great significance in rice breeding. The lodging resistance of rice is directly related to the mechanical strength of the stalks. In this paper, we reviewed the cell wall structure, its components, and its genetic regulatory mechanism, which improved the regulatory network of rice stalk mechanical strength. Meanwhile, we analyzed the new progress in genetic breeding and put forward some scientific problems that need to be solved in this field in order to provide theoretical support for the improvement and application of rice breeding.
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Electrocatalytic water splitting shows great potential for producing clean and green hydrogen, but it is hindered by slow reaction kinetics. Advanced electrocatalysts are needed to lower the energy barriers. The establishment of built-in electric fields (BIEF) in heterointerfaces has been found to be beneficial for speeding up electron transfer, increasing electrical conductivity, adjusting the local reaction environment, and optimizing the chemisorption energy with intermediates. Engineering and modifying the BIEF in heterojunctions offer significant opportunities to enhance the electronic properties of catalysts, thus improving the reaction kinetics. This comprehensive review focuses on the latest advances in BIEF engineering in heterojunction catalysts for efficient water electrolysis. It highlights the fundamentals, engineering, modification, characterization, and application of BIEF in electrocatalytic water splitting. The review also discusses the challenges and future prospects of BIEF engineering. Overall, this review provides a thorough examination of BIEF engineering for the next generation of water electrolysis devices.
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Recently, polyurethane elastomer (TPU) has attracted more and more attention depending on its excellent optical, mechanical, and retreatment properties. The high strength of polyurethane has always been pursued, which can enable its application in more fields. In this work, an aliphatic polyurethane elastomer membrane (HRPU6) was successfully synthesized, and its strength was obviously improved by solvent annealing technology. The tensile strength and adhesion strength can reach 64.56 and 2.58 MPa, but 36.55 and 1.57 MPa only before solvent annealing, respectively. The impact strength of laminated glass based on HRPU has also been significantly improved after solvent annealing, confirmed through drop ball impact testing. It has been confirmed that the increase in strength of HRPU6 is attributed to the enhancement of hydrogen bonding and the improvement of the phase separation degree.
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Background: In recent years, the incidence of adenocarcinoma of the esophagogastric junction (AEG) has been rapidly increasing globally. Despite advances in the diagnosis and treatment of AEG, the overall prognosis for AEG patients remains concerning. Therefore, analyzing prognostic factors for AEG patients of Siewert type II and constructing a prognostic model for AEG patients is important. Methods: Data of primary Siewert type II AEG patients from the SEER database from 2004 to 2015 were obtained and randomly divided into training and internal validation cohort. Additionally, data of primary Siewert type II AEG patients from the China Medical University Dandong Central Hospital from 2012 to 2018 were collected for external validation. Each variable in the training set underwent univariate Cox analysis, and variables with statistical significance (p < 0.05) were added to the LASSO equation for feature selection. Multivariate Cox analysis was then conducted to determine the independent predictive factors. A nomogram for predicting overall survival (OS) was developed, and its performance was evaluated using ROC curves, calibration curves, and decision curves. NRI and IDI were calculated to assess the improvement of the new prediction model relative to TNM staging. Patients were stratified into high-risk and low-risk groups based on the risk scores from the nomogram. Results: Age, Differentiation grade, T stage, M stage, and LODDS (Log Odds of Positive Lymph Nodes)were independent prognostic factors for OS. The AUC values of the ROC curves for the nomogram in the training set, internal validation set, and external validation set were all greater than 0.7 and higher than those of TNM staging alone. Calibration curves indicated consistency between the predicted and actual outcomes. Decision curve analysis showed moderate net benefit. The NRI and IDI values of the nomogram were greater than 0 in the training, internal validation, and external validation sets. Risk stratification based on the nomogram's risk score demonstrated significant differences in survival rates between the high-risk and low-risk groups. Conclusion: We developed and validated a nomogram for predicting overall survival (OS) in patients with Siewert type II AEG, which assists clinicians in accurately predicting mortality risk and recommending personalized treatment strategies.
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NO2 is a hazardous gas extremely harmful to the ecosystem and human health, so effective detection of NO2 is critical. SnSe2 is a promising candidate for gas sensors owing to its unique layered configuration that facilitates the diffusion of gas molecules. Here, ultrathin self-assembled nanoflowers F-SnSe2 rich in defects were synthesized by a simple solvothermal method. It exhibits excellent gas sensing performances for NO2 at room temperature (25 °C), with a high gas sensing response of 8.6 for 1 ppm NO2 and a lower detection limit as low as 200 ppb, capable of sensitively detecting ppb-level NO2. DFT calculations revealed that the presence of Se vacancies assists the central Sn atoms to break through the shielding effect of the surface Se atoms and become exposed active sites. The higher reactivity leads to more charge transfer and higher adsorption energy, which strongly promoted the adsorption of NO2. This work verifies the important role of vacancies for the exposed active sites and provides new guidance for defect engineering to modulate the gas sensing performances of SnSe2.
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Liposomes, a nanoscale carrier, plays an important role in the delivery of drug, affects the in vivo efficacy of drugs. In this paper, silymarin(SM)-loaded liposomes was optimized using the response surface method (RSM), with entrapment efficiency (EE%) as an index. The formulation was optimized as follow: lecithin (7.8mg/mL), SM/lecithin (1/26) and lecithin/cholesterol (10/1). The optimized SM liposomes had a high EE (96.58 ±3.06%), with a particle size of 290.3 ±10.5nm and a zeta potential of +22.98 ±1.73mV. In vitro release tests revealed that SM was released in a sustained-release manner, primarily via diffusion mechanism. In vitro cytotoxicity studies demonstrated that the prepared SM liposomes had stronger inhibitory effects than the model drug. Overall, these results indicate that this liposome system is suitable for intravenous delivery to enhance the antitumor effects of SM.
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Lecitinas , Liposomas , Tamaño de la Partícula , Silimarina , Silimarina/farmacología , Silimarina/química , Silimarina/administración & dosificación , Humanos , Lecitinas/química , Antineoplásicos/farmacología , Antineoplásicos/química , Antineoplásicos/administración & dosificación , Liberación de Fármacos , Línea Celular Tumoral , Supervivencia Celular/efectos de los fármacos , Colesterol/química , Química Farmacéutica , Composición de MedicamentosRESUMEN
Fluorescent RNAs (FRs) provide an attractive approach to visualizing RNAs in live cells. Although the color palette of FRs has been greatly expanded recently, a green FR with high cellular brightness and photostability is still highly desired. Here we develop a fluorogenic RNA aptamer, termed Okra, that can bind and activate the fluorophore ligand ACE to emit bright green fluorescence. Okra has an order of magnitude enhanced cellular brightness than currently available green FRs, allowing the robust imaging of messenger RNA in both live bacterial and mammalian cells. We further demonstrate the usefulness of Okra for time-resolved measurements of ACTB mRNA trafficking to stress granules, as well as live-cell dual-color superresolution imaging of RNA in combination with Pepper620, revealing nonuniform and distinct distributions of different RNAs throughout the granules. The favorable properties of Okra make it a versatile tool for the study of RNA dynamics and subcellular localization.
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This study aimed to extract bamboo shoot protein (BSP) using different extraction approaches and compare their functional and physicochemical properties with commercial protein ingredients, including whey protein and soy protein isolates. The extraction methods including alkali extraction (AE), salt extraction (SE), and phosphate-aided ethanol precipitation (PE) were used. An enhanced solvent extraction method was utilized in combination, resulting in a significant improvement in the protein purity, which reached 81.59 %, 87.36 %, and 67.08 % respectively. The extraction methods had significant effects on the amino acid composition, molecular weight distribution, and functional properties of the proteins. SE exhibited the best solubility and emulsification properties. Its solubility reached up to 93.38 % under alkaline conditions, and the emulsion stabilized by SE with enhanced solvent extraction retained 60.95 % stability after 120 min, which could be attributed to its higher protein content, higher surface hydrophobicity, and relative more stable and organized protein structure. All three BSP samples demonstrated better oil holding capacity, while the SE sample showed comparable functional properties to soy protein such as foaming and emulsifying properties. These findings indicate the potential of BSP as an alternative plant protein ingredient in the food industry.
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Interacciones Hidrofóbicas e Hidrofílicas , Proteínas de Plantas , Brotes de la Planta , Solubilidad , Proteínas de Plantas/química , Proteínas de Plantas/aislamiento & purificación , Brotes de la Planta/química , Emulsiones/química , Aminoácidos/química , Aminoácidos/análisis , Peso Molecular , Proteína de Suero de Leche/química , Proteínas de Soja/química , Solventes/químicaRESUMEN
Bacterial blight, a major disease in rice, poses a serious impact on rice production. In this study, a doubled haploid (DH) population derived from a cross between the introduced japonica cultivar 'Maybelle' and the indica landrace 'Baiyeqiu' was used to investigate the pathogenicity of four pathogen races causing bacterial blight. The results showed that the pathogenicity of all the pathogen races exhibited continuous, transgressive distribution in the DH population. Moreover, strong correlations existed between every two pathogen races, with the correlation coefficients ranging from 0.3 to 0.6. A total of 12 quantitative trait loci (QTLs) distributed on chromosomes 1, 2, 3, 5, 6, 7, 9, and 12 were detected for rice bacterial blight, explaining 4.95% to 16.05% of the phenotype. Among these QTLs, a major QTL located in the interval RM6024-RM163 on chromosome 5 was detected in three pathogen races. In addition, the pyramiding of the positive alleles can apparently improve the rice resistance to bacterial blight. This study is of great significance for broadening the genetic resources with resistance to bacterial blight in China.
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Resistencia a la Enfermedad , Oryza , Enfermedades de las Plantas , Sitios de Carácter Cuantitativo , Oryza/genética , Oryza/microbiología , Enfermedades de las Plantas/microbiología , Enfermedades de las Plantas/genética , Resistencia a la Enfermedad/genética , Xanthomonas/genética , Xanthomonas/patogenicidad , Haploidia , Cromosomas de las Plantas/genéticaRESUMEN
Early mutation identification guides patients with colorectal cancer (CRC) toward targeted therapies. In the present study, 414 patients with CRC were enrolled, and amplicon-based targeted next-generation sequencing (NGS) was then performed to detect genomic alterations within the 73 cancer-related genes in the OncoAim panel. The overall mutation rate was 91.5 % (379/414). Gene mutations were detected in 38/73 genes tested. The most frequently mutated genes were TP53 (60.9 %), KRAS (46.6 %), APC (30.4 %), PIK3CA (15.9 %), FBXW7 (8.2 %), SMAD4 (6.8 %), BRAF (6.5 %), and NRAS (3.9 %). Compared with the wild type, TP53 mutations were associated with low microsatellite instability/microsatellite stability (MSI-L/MSS) (P = 0.007), tumor location (P = 0.043), and histological grade (P = 0.0009); KRAS mutations were associated with female gender (P = 0.026), distant metastasis (P = 0.023), TNM stage (P = 0.013), and histological grade (P = 0.004); APC mutations were associated with patients <64 years of age at diagnosis (P = 0.04); PIK3CA mutations were associated with tumor location (P = 4.97e-06) and female gender (P = 0.018); SMAD4 mutations were associated with tumor location (P = 0.033); BRAF mutations were associated with high MSI (MSI-H; P = 6.968e-07), tumor location (P = 1.58e-06), and histological grade (P = 0.04). Mutations in 164 individuals were found to be pathogenic or likely pathogenic. A total of 26 patients harbored MSI-H tumors and they all had at least one detected gene mutation. Mutated genes were enriched in signaling pathways associated with CRC. The present findings have important implications for improving the personalized treatment of patients with CRC in China.
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The topological properties of DNA have long been a focal point in biophysics. In the 1970s, White proposed that the topology of closed DNA double helix follows White's formula: Lk=Wr+Tw. However, there has been controversy in the calculation of DNA twisting number, partly due to discrepancies in the definition of torsion in differential geometry. In this paper, we delved into a detailed study of torsion, revealing that the calculation of DNA twisting number should use the curve's geodesic torsion. Furthermore, we found that the discrepancy in DNA twisting numbers calculated using different torsion is N. This study elucidated the impact of torsion on the calculation of DNA twisting numbers, aiming to resolve controversies in the calculation of DNA topology and provided accurate computational methods and theoretical foundations for related research.
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ADN , Conformación de Ácido Nucleico , ADN/genética , Matemática , BiofisicaRESUMEN
BACKGROUND: The labial salivary glands (LSGs) are important for the diagnosis, evaluation of therapeutic efficacy, and genetic analyses of primary Sjögren's syndrome (pSS). In autoimmune diseases, the recognition of self nucleic acids and viral RNA and DNA through endogenous Toll-like receptor(TLR) triggers the production of type I IFN and pro-inflammatory cytokines, leading to the occurrence and progression of the disease. Here, we detected the expression of TLR7 in LSGs and analyse its correlation with clinical features and serum cytokines in pSS patients. METHODS: LSGs and serum samples were obtained from 56 pSS patients and 19 non-SS patients (non-pSS patients). The expression of TLR7 in the LSGs was evaluated with immunohistochemistry. The serum levels of interferon-α (IFN-α) and interleukin-6 (IL-6) were quantified by ELISA. Laboratory parameters were measured by clinical standard laboratory techniques. RESULTS: TLR7-positive cells in pSS were localized in the ductal epithelial cells and lymphocytes of LSGs. The expression of TLR7 was upregulated in pSS patients compared with controls. Patients with anti-Ro52 antibody positivity showed higher TLR7 levels than those who were negative but not those with anti-Ro60 and anti-SSB. TLR7 levels were positively associated with the levels of IgG, IgA, ANA, IL-6, IFN-α and serum globulin but were not associated with IgM, C3, C4, or rheumatoid factor (RF) in serum. CONCLUSION: TLR7 may be involved in the inflammatory response and the production of antibodies in pSS and plays an important role in local and systemic pSS manifestations. This research showed that TLR7 is involved in pSS pathogenesis.
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Síndrome de Sjögren , Receptor Toll-Like 7 , Humanos , Anticuerpos , Citocinas , Interleucina-6RESUMEN
PURPOSE: To construct a clinical noncontrastive computed tomography (NCCT) deep learning joint model for predicting early hematoma expansion (HE) after cerebral hemorrhage (sICH) and evaluate its predictive performance. METHODS: All 254 patients with primary cerebral hemorrhage from January 2017 to December 2022 in the General Hospital of the Western Theater Command were included. According to the criteria of hematoma enlargement exceeding 33% or the volume exceeding 6 ml, the patients were divided into the HE group and the hematoma non-enlargement (NHE) group. Multiple models and the 10-fold cross-validation method were used to screen the most valuable features and model the probability of predicting HE. The area under the curve (AUC) was used to analyze the prediction efficiency of each model for HE. RESULTS: They were randomly divided into a training set of 204 cases in an 8:2 ratio and 50 cases of the test set. The clinical imaging deep feature joint model (22 features) predicted the area under the curve of HE as follows: clinical Navie Bayes model AUC 0.779, traditional radiology logistic regression (LR) model AUC 0.818, deep learning LR model AUC 0.873, and clinical NCCT deep learning multilayer perceptron model AUC 0.921. CONCLUSION: The combined clinical imaging deep learning model has a high predictive effect for early HE in sICH patients, which is helpful for clinical individualized assessment of the risk of early HE in sICH patients.
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Hemorragia Cerebral , Aprendizaje Profundo , Hematoma , Tomografía Computarizada por Rayos X , Humanos , Hemorragia Cerebral/diagnóstico por imagen , Masculino , Hematoma/diagnóstico por imagen , Femenino , Persona de Mediana Edad , Anciano , Valor Predictivo de las Pruebas , Modelos Logísticos , Progresión de la Enfermedad , Teorema de BayesRESUMEN
Chronic kidney disease (CKD) is the 16th leading cause of mortality worldwide. Clinical studies have raised that long-term use of omeprazole (OME) is associated with the morbidity of CKD. OME is commonly used in clinical practice to treat peptic ulcers and gastroesophageal reflux disease. However, the mechanism underlying renal failure following OME treatment remains mostly unknown and the rodent model of OME-induced CKD is yet to be established. We described the process of renal injury after exposure to OME in mice; the early renal injury markers were increased in renal tubular epithelial cells (RTECs). And after long-term OME treatment, the OME-induced CKD mice model was established. Herein, aryl hydrocarbon receptor (AHR) translocation appeared after exposure to OME in HK-2 cells. Then for both in vivo and in vitro, we found that Ahr-knockout (KO) and AHR small interfering RNA (siRNA) substantially alleviated the OME-induced renal function impairment and tubular cell damage. Furthermore, our data demonstrate that antagonists of AHR and CYP1A1 could attenuate OME-induced tubular cell impairment in HK-2 cells. Taken together, these data indicate that OME induces CKD through the activation of the AHR-CYP axis in RTECs. Our findings suggest that blocking the AHR-CYP1A1 pathway acts as a potential strategy for the treatment of CKD caused by OME. KEY MESSAGES: We provide an omeprazole-induced chronic kidney disease (CKD) mice model. AHR activation and translocation process was involved in renal tubular damage and promoted the occurrence of CKD. The process of omeprazole nephrotoxicity can be ameliorated by blockade of the AHR-CYP1A1 axis.
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Citocromo P-450 CYP1A1 , Ratones Endogámicos C57BL , Ratones Noqueados , Omeprazol , Receptores de Hidrocarburo de Aril , Insuficiencia Renal Crónica , Animales , Humanos , Masculino , Ratones , Factores de Transcripción con Motivo Hélice-Asa-Hélice Básico/metabolismo , Factores de Transcripción con Motivo Hélice-Asa-Hélice Básico/genética , Línea Celular , Citocromo P-450 CYP1A1/metabolismo , Citocromo P-450 CYP1A1/genética , Modelos Animales de Enfermedad , Células Epiteliales/metabolismo , Células Epiteliales/efectos de los fármacos , Túbulos Renales/patología , Túbulos Renales/metabolismo , Túbulos Renales/efectos de los fármacos , Omeprazol/farmacología , Receptores de Hidrocarburo de Aril/metabolismo , Receptores de Hidrocarburo de Aril/genética , Insuficiencia Renal Crónica/metabolismo , Insuficiencia Renal Crónica/tratamiento farmacológico , Insuficiencia Renal Crónica/etiología , Insuficiencia Renal Crónica/inducido químicamente , ARN Interferente Pequeño/metabolismo , ARN Interferente Pequeño/genéticaRESUMEN
OBJECTIVE: To investigate the correlations between multigene alterations and clinicopathological features in papillary thyroid carcinoma (PTC) samples. METHODS: In this retrospective study, 111 cytological specimens of thyroid nodules, including 74 PTC samples and 37 benign samples, were analyzed using a 22-gene mutation assay employing next-generation sequencing. Clinicopathological information was retrospectively collected and analyzed. RESULTS: Gene alterations were associated with a higher rate of lymph node metastasis (LNM) and thyroid capsular invasion, a lower rate of coexisting Hashimoto's thyroiditis, the classical PTC subtype, and younger age (<45 years). Among the 22 genes tested, the BRAF mutation rates showed a significant difference between the PTC and benign groups. In the subgroup analysis, younger age (odds ratio = 12.512, 95% confidence interval: 3.126-50.087) was an independent risk factor for LNM. In further analyses, BRAF mutation was significantly associated with LNM in the older subgroup (age ≥ 45 years), suggesting that the BRAF mutation test has greater value for determining PTC prognosis in the older age group. CONCLUSIONS: Our findings will provide a more comprehensive understanding of the relationship between gene mutations and PTC and may contribute to improved PTC management.
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Carcinoma Papilar , Neoplasias de la Tiroides , Humanos , Anciano , Persona de Mediana Edad , Cáncer Papilar Tiroideo/genética , Neoplasias de la Tiroides/patología , Estudios Retrospectivos , Proteínas Proto-Oncogénicas B-raf/genética , Carcinoma Papilar/genética , Carcinoma Papilar/patología , Mutación/genética , Metástasis Linfática/genéticaRESUMEN
Background: Primary Sjogren's syndrome (pSS) is a common autoimmune disorder that affects up to 0.3-3% of the global population. Ferroptosis has recently been identified to play a significant role in autoimmune diseases. However, the molecular mechanisms of ferroptosis in the initiation and progression of pSS remains unclear. Material and Methods: To investigate the molecular mechanisms underlying the occurrence and progression of pSS, we utilized a comprehensive approach by integrating data obtained from the Gene Expression Omnibus (GEO) database with data from the FerrDb database to identify the ferroptosis-related differentially expressed genes (DEGs). Furthermore, we implemented an innovative transcriptomic analysis method utilizing a computer-aided algorithm to establish a network between hub genes associated with ferroptosis and the immune microenvironment in pSS patients. Results: Our results revealed significant differences in the gene expression profiles of pSS samples compared to normal tissues, with 1,830 significantly up-regulated genes and 1,310 significantly down-regulated genes. In addition, our results showed a significant increase in the proportions of B cells and CD4+ T cells in pSS samples compared to normal tissues. AND then, our analysis revealed that a combination of six ferroptosis-related genes, including TBK1, SLC1A4, PIK3CA, ENO3, EGR1, and ATG5, could serve as optimal markers for the diagnosis of pSS. The combined analysis of these six genes accurately diagnosed the occurrence of pSS. Conclusions: This study offers valuable insights into the pathogenesis of pSS and highlights the importance of targeting ferroptosis-related DEGs, which suggests a novel treatment strategy for pSS.(AU)
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Humanos , Masculino , Femenino , Aprendizaje Automático , Síndrome de Sjögren/diagnóstico , Enfermedades Autoinmunes , Algoritmos , Salud Bucal , Medicina Oral , Patología BucalRESUMEN
Bergamot essential oil (BEO) is an extract of the bergamot fruit with significant neuroprotective effect. This study was to investigate the effects and the underlying mechanism of BEO in mitigating depression. GC-MS were used to identify its constituents. Antidepressive properties of BEO were evaluated by sucrose preference test (SPT), force swimming test (FST) and open field test (OFT). Nissl staining was used to determine the number of Nissl bodies in hippocampus (HIPP) of rats. Changes in HIPP dendritic length and dendritic spine density were detected by Golgi-Cox staining. Immunohistochemistry and Western blot were used to detect the postsynaptic density protein-95 (PSD-95) and synaptophysin (SYP) in the HIPP of rats. The enzyme-linked immunosorbent assay was used to determine the 5-hydroxytryptamine (5-HT), insulin-like growth factor 1 (IGF-1) and interleukin-1ß (IL-1ß) in the HIPP, serum and cerebrospinal fluid (CSF) of rats. Inhaled BEO significantly improved depressive behaviour in chronic unpredictable mild stress (CUMS) rats. BEO increased Nissl bodies, dendritic length and spine density, PSD-95 and SYP protein in the HIPP. Additionally, BEO upregulated serum 5-HT, serum and CSF IGF-1, while downregulating serum IL-1ß. Collectively, inhaled BEO mitigates depression by protecting the plasticity of hippocampal neurons, hence, providing novel insights into treatment of depression.
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Depresión , Aceites Volátiles , Ratas , Animales , Depresión/tratamiento farmacológico , Depresión/etiología , Depresión/metabolismo , Aceites Volátiles/farmacología , Aceites Volátiles/metabolismo , Factor I del Crecimiento Similar a la Insulina/metabolismo , Serotonina/metabolismo , Hipocampo/metabolismo , Homólogo 4 de la Proteína Discs Large/metabolismo , Neuronas/metabolismo , Estrés Psicológico/complicaciones , Estrés Psicológico/tratamiento farmacológico , Modelos Animales de Enfermedad , Conducta AnimalRESUMEN
Background and Aim: Patients suspected of Alpha 1-Antitrypsin (A1AT) abnormality based on low serum concentration are routinely confirmed through polymerase chain reaction (PCR) testing of peripheral blood. Genotyping formalin-fixed paraffin-embedded (FFPE) tissue is a novel approach that could aid in detecting variant A1AT. We performed qPCR on FFPE liver explants with Periodic Acid Schiff after Diastase (PASD)- and A1AT-positive globules to confirm and estimate the frequency of A1AT deficiency in transplant cases. Materials and Methods: Eighteen (12.68%) of 142 patients with end-stage liver disease showed PASD/A1AT positive globules. FFPE of the explants was tested through qPCR to detect S and Z alleles. A second age- and sex-matched control group consisting of five liver transplant patients with negative globules was included in the study. Results: qPCR assay was successful with all the samples meeting QC parameters. All patients included in the study elucidated Z allele variants; 2 homozygous (11.1%) and 16 heterozygous (88.9%). The control group demonstrated normal wild-type MM allele. Conclusion: Screening for A1AT deficiency using serum levels is not sufficiently sensitive to detect deficiency, especially in carriers. If A1AT testing was not performed preoperatively and the risk is high based on the PASD/A1AT-positive globules in the explants, then molecular testing of FFPE tissue can be a viable method for confirming the diagnosis.
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Fluorescent RNA is a kind of emerging RNA labeling technique that can be used for in situ labeling and imaging of RNA in live cells, which plays an important role in understanding the function and regulation mechanism of RNA. Biosensing technology based on fluorescent RNA can be applied in dynamic detection of small molecule metabolites and proteins in real time, offering valuable tools for basic life science research and biomedical sensing technology development. In this review, we introduce the development of genetically encoded fluorescent RNA, and the application of fluorescent RNA in RNA imaging and biosensing technology based on fluorescent RNA in biosensing in live cell. Meanwhile, we discuss the direction and challenge of future development of fluorescent RNA technology to provide valuable insights for further development and application of this technology in relevant fields.