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Acute myeloid leukemia (AML) can manifest as de novo AML (dn-AML) or secondary AML (s-AML), with s-AML being associated with inferior survival and distinct genomic characteristics. The underlying reasons for this disparity remain to be elucidated. In this multicenter study, next-generation sequencing (NGS) was employed to investigate the mutational landscape of AML in 721 patients from June 2020 to May 2023.Genetic mutations were observed in 93.34% of the individuals, with complex variations (more than three gene mutations) present in 63.10% of them. TET2, ASXL1, DNMT3A, TP53 and SRSF2 mutations showed a higher prevalence among older individuals, whereas WT1 and KIT mutations were more commonly observed in younger patients. BCOR, BCORL1, ZRSR2, ASXL1 and SRSF2 exhibited higher mutation frequencies in males. Additionally, ASXL1, NRAS, PPMID, SRSF2, TP53 and U2AF1 mutations were more common in patients with s-AML, which PPM1D was more frequently associated with therapy-related AML (t-AML). Advanced age and hyperleukocytosis independently served as adverse prognostic factors for both types of AML; however, s-AML patients demonstrated a greater number of monogenic adverse prognostic factors compared to dn-AML cases (ASXL1, PPM1D, TP53 and U2AF1 in s-AML vs. FLT3, TP53 and U2AF1 in dn-AML). Age and sex-related gene mutations suggest epigenetic changes may be key in AML pathogenesis. The worse prognosis of s-AML compared to dn-AML could be due to the older age of s-AML patients and more poor-prognosis gene mutations. These findings could improve AML diagnosis and treatment by identifying potential therapeutic targets and risk stratification biomarkers.
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CAR-T cell therapy has emerged as a significant approach for the management of hematological malignancies. Over the past few years, the utilization of CAR-T cells in the investigation and treatment of solid tumors has gained momentum, thereby establishing itself as a prominent area of research. This descriptive study involved the retrieval of articles about CAR-T cell therapy for solid tumors from the Web of Science Core Collection (WoSCC) database. Subsequently, bibliometric analysis and knowledge map analysis were conducted on these articles. The field under consideration is currently experiencing a period of swift advancement, as evidenced by the escalating number of publications in this domain each year. The United States holds an indisputable position as the foremost leader in this particular field, with the University of Pennsylvania emerging as the most active institution. The authors with the highest citation frequency and co-citation frequency are Carl H. June and Shannon L. Maude, respectively. The research hotspots in this field mainly focus on five aspects. Additionally, 10 emerging themes were identified. This study undertakes a comprehensive, systematic, and objective analysis and exploration of the field of CAR-T cell treatment for solid tumors, utilizing bibliometric methods. The findings of this study are expected to serve as a valuable reference and enlightenment for future research endeavors in this particular domain.
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Bibliometría , Inmunoterapia Adoptiva , Neoplasias , Humanos , Neoplasias/terapia , Inmunoterapia Adoptiva/métodos , Investigación Biomédica/tendencias , Receptores Quiméricos de Antígenos/inmunologíaRESUMEN
With the increasingly stringent control of NOx emissions, NH3-SCR, one of the most effective de-NOx technologies for removing NOx, has been widely employed to eliminate NOx from automobile exhaust and industrial production. Researchers have favored iron-based catalysts for their low cost, high activity, and excellent de-NOx performance. This paper takes a new perspective to review the research progress of iron-based catalysts. The influence of the chemical form of single iron-based catalysts on their performance was investigated. In the section on composite iron-based catalysts, detailed reviews were conducted on the effects of synergistic interactions between iron and other elements on catalytic performance. Regarding loaded iron-based catalysts, the catalytic performance of iron-based catalysts on different carriers was systematically examined. In the section on iron-based catalysts with novel structures, the effects of the morphology and crystallinity of nanomaterials on catalytic performance were analyzed. Additionally, the reaction mechanism and poisoning mechanism of iron-based catalysts were elucidated. In conclusion, the paper delved into the prospects and future directions of iron-based catalysts, aiming to provide ideas for the development of iron-based catalysts with better application prospects. The comprehensive review underscores the significance of iron-based catalysts in the realm of de-NOx technologies, shedding light on their diverse forms and applications. The hope is that this paper will serve as a valuable resource, guiding future endeavors in the development of advanced iron-based catalysts.
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Amoníaco , Frío , Temperatura , Oxidación-Reducción , Amoníaco/química , Hierro/química , CatálisisRESUMEN
With the global emphasis on environmental protection and the proposal of the climate goal of "carbon neutrality," countries around the world are calling for reductions in carbon dioxide, nitrogen oxide, and particulate matter pollution. These pollutants have severe impacts on human lives and should be effectively controlled. Engine exhaust is the most serious pollution source, and diesel engine is an important contributor to particulate matter. Diesel particulate filter (DPF) technology has proven to be an effective technology for soot control at the present and in the future. Firstly, the exacerbating effect of particulate matter on human infectious disease viruses is discussed. Then, the latest developments in the influence of key factors on DPF performance are reviewed at different observation scales (wall, channel, and entire filter). In addition, current soot catalytic oxidant schemes are presented in the review, and the significance of catalyst activity and soot oxidation kinetic models are highlighted. Finally, the areas that need further research are determined, which has important guiding significance for future research. Current catalytic technologies are focused on stable materials with high mobility of oxidizing substances and low cost. The challenge of DPF optimization design is to accurately calculate the balance between soot and ash load, DPF regeneration control strategy, and exhaust heat management strategy.
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Contaminantes Atmosféricos , Contaminación del Aire , Humanos , Hollín/análisis , Material Particulado/análisis , Contaminantes Atmosféricos/análisis , Emisiones de Vehículos/análisis , Contaminación del Aire/prevención & control , PolvoRESUMEN
As countries around the world pay more attention to environmental protection, the corresponding emission regulations have become more stringent. Exhaust pollutants cause great harm to the environment and people, and diesel engines are one of the most important sources of pollution. Diesel particulate filter (DPF) technology has proven to be the most effective way to control and treat soot. In this paper, we review the latest research progress on DPF regeneration and ash. Passive regeneration, active regeneration, non-thermal plasma-assisted DPF regeneration and regeneration mechanism, DPF regeneration control assisted by engine management, and uncontrolled DPF regeneration and its control strategy are mainly introduced. In addition, the source, composition, and deposition of ash are described in detail, as well as the effect of ash on the DPF pressure drop and catalytic performance. Finally, the issues that need to be further addressed in DPF regeneration research are presented, along with challenges and future work in ash research. Over all, composite regeneration is still the mainstream regeneration method. The formation of ash is complex and there are still many unanswered questions that require further in-depth research.
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Contaminantes Atmosféricos , Contaminación del Aire , Humanos , Material Particulado/análisis , Polvo , Contaminantes Atmosféricos/análisis , Emisiones de Vehículos/análisis , Contaminación del Aire/análisisRESUMEN
Fingerprints are of long-standing practical and cultural interest, but little is known about the mechanisms that underlie their variation. Using genome-wide scans in Han Chinese cohorts, we identified 18 loci associated with fingerprint type across the digits, including a genetic basis for the long-recognized "pattern-block" correlations among the middle three digits. In particular, we identified a variant near EVI1 that alters regulatory activity and established a role for EVI1 in dermatoglyph patterning in mice. Dynamic EVI1 expression during human development supports its role in shaping the limbs and digits, rather than influencing skin patterning directly. Trans-ethnic meta-analysis identified 43 fingerprint-associated loci, with nearby genes being strongly enriched for general limb development pathways. We also found that fingerprint patterns were genetically correlated with hand proportions. Taken together, these findings support the key role of limb development genes in influencing the outcome of fingerprint patterning.
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Dermatoglifia , Dedos/crecimiento & desarrollo , Organogénesis/genética , Polimorfismo de Nucleótido Simple , Dedos del Pie/crecimiento & desarrollo , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Animales , Pueblo Asiatico/genética , Tipificación del Cuerpo/genética , Niño , Estudios de Cohortes , Femenino , Miembro Anterior/crecimiento & desarrollo , Sitios Genéticos , Estudio de Asociación del Genoma Completo , Humanos , Proteína del Locus del Complejo MDS1 y EV11/genética , Masculino , Ratones , Persona de Mediana Edad , Adulto JovenRESUMEN
Palmprints are of long practical and cultural interest. Palmprint principal lines, also called primary palmar lines, are one of the most dominant palmprint features and do not change over the lifespan. The existing methods utilize filters and edge detection operators to get the principal lines from the palm region of interest (ROI), but can not distinguish the principal lines from fine wrinkles. This paper proposes a novel deep-learning architecture to extract palmprint principal lines, which could greatly reduce the influence of fine wrinkles, and classify palmprint phenotypes further from 2D palmprint images. This architecture includes three modules, ROI extraction module (REM) using pre-trained hand key point location model, principal line extraction module (PLEM) using deep edge detection model, and phenotype classifier (PC) based on ResNet34 network. Compared with the current ROI extraction method, our extraction is competitive with a success rate of 95.2%. For principal line extraction, the similarity score between our extracted lines and ground truth palmprint lines achieves 0.813. And the proposed architecture achieves a phenotype classification accuracy of 95.7% based on our self-built palmprint dataset CAS_Palm.
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BACKGROUND: The aim of this study is to find the potential survival related DNA methylation signature capable of predicting survival time for acute myelocytic leukemia (AML) patients. METHODS: DNA methylation data were downloaded. DNA methylation signature was identified in the training group, and subsequently validated in an independent validation group. The overall survival of DNA methylation signature was performed. Functional analysis was used to explore the function of corresponding genes of DNA methylation signature. Differentially methylated sites and CpG islands were also identified in poor-risk group. RESULTS: A DNA methylation signature involving 8 DNA methylation sites and 6 genes were identified. Functional analysis showed that protein binding and cytoplasm were the only two enriched Gene Ontology terms. A total of 70 differentially methylated sites and 6 differentially methylated CpG islands were identified in poor-risk group. CONCLUSIONS: The identified survival related DNA methylation signature adds to the prognostic value of AML.
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Metilación de ADN , ADN de Neoplasias/metabolismo , Leucemia Mieloide Aguda/metabolismo , Leucemia Mieloide Aguda/mortalidad , Adulto , Anciano , Supervivencia sin Enfermedad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Tasa de SupervivenciaRESUMEN
Acute myeloid leukemia (AML) is a common myelogenous malignancy in adults that is often characterized by disease relapse. The pathophysiological mechanism of AML has not yet been elucidated. The present study aimed to identify the crucial microRNAs (miRNAs/miRs) and target genes in AML, and to uncover the potential oncogenic mechanism of AML. miRNA and mRNA expression-profiling microarray datasets were downloaded from the Gene Expression Omnibus database. Differential expression analysis was performed and a regulatory network between miRNAs and target genes was constructed. Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analyses were used to predict the biological functions of the differentially expressed genes. Reverse transcription-quantitative polymerase chain reaction analysis was employed to verify the expression levels of miRNAs and target genes in AML patient samples. A total of 86 differentially expressed miRNAs and 468 differentially expressed mRNAs between AML and healthy blood samples were identified. In total, 47 miRNAs and 401 mRNAs were found to be upregulated, and 39 miRNAs and 67 mRNAs were found to be downregulated in AML. A total of 223 miRNA-target genes pairs were subjected to the construction of a regulatory network. Differentially expressed target genes were significantly enriched in the Wnt signaling pathway (hsa04310), melanogenesis (hsa04916) and pathways in cancer (hsa05200). Significantly differentially expressed miRNAs and genes, including hsa-miR-155, hsa-miR-192, annexin A2 (ANXA2), frizzled class receptor 3 (FZD3), and pleomorphic adenoma gene 1 (PLAG1), may serve essential roles in AML oncogenesis. Overall, hsa-miR-155, hsa-miR-192, ANXA2, FZD3 and PLAG1 may be associated with the development of AML via the involvement of the Wnt signaling pathway, melanogenesis and other cancer-associated signaling pathways.
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BACKGROUND: LncRNAs and miRNAs are found to play crucial roles in the tumorigenesis of acute myeloid leukemia (AML). We aimed to investigate the functions and mechanisms of lncRNA-CAT104 and miR-182 in AML. METHODS: Expression of CAT104, miR-182, and ZEB1 in K562 and HL60 cell lines was respectively or synchronously altered by transfection. Expressions of CAT104, miR-182 and ZEB1 in cell were then analyzed by qRT-PCR. Cell viability, migration, invasion and apoptosis were evaluated by MTT, transwell assays and flow cytometry, respectively. Protein expressions of ZEB1 and factors related with apoptosis and two signal pathways (Wnt/ß-catenin and JNK) were detected by western blot. RESULTS: CAT104 expressed highly in K562 and HL60 cells compared to embryonic kidney cell line HEK293 (P < 0.001). Knockdown of CAT104 inhibited cell viability, migration and invasion, but increased cell apoptosis of K562 and HL60 cells through inhibitionof miR-182 (P < 0.05). miR-182 promoted cell survival, migration and invasion through upregulatingthe expression of ZEB1 (P < 0.05). miR-182 silence deactivated Wnt/ß-catenin and JNK signal pathways by downregulating the expression of ZEB1 in K562 and HL60 cells. CONCLUSION: LncRNA-CAT104 expressed highly in leukemia cells and its silence inhibited cell survival, migration and invasion by downregulating miR-182 expression. miR-182 functioned as an oncogene by upregulating ZEB1 via which miR-182 silence deactivated Wnt/ß-catenin and JNK signal pathways in leukemia cells.
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BACKGROUND This study was designed to explore the molecular mechanism underlying the effect of cellular miRNAs and EBV miRNA upon the expression of targets such as PTEN, and their involvement in the pathogenesis of Burkitt lymphoma. MATERIAL AND METHODS In this study, we examined several differentially expressed cellular miRNAs in EBV-positive versus EBV-negative Burkett lymphoma tissue samples, and confirmed PTEN as targets of cellular miR-142 by using a bioinformatics tool, luciferase reporter system, oligo transfection, real-time PCR, and Western blot analysis. RESULTS We further confirmed the binding site of miR-142 in the 3'UTR of the target genes, and established the negative regulatory relationship between miRNA and mRNAs with luciferase activity assay. To verify the regulatory relationship between the miRNAs and PTEN, we evaluated the expression of PTEN in the tissue samples, and found that PTEN was downregulated in EBV- positive Burkett lymphoma. Additionally, lymphoma cells were transfected with EBV-BART-6-3p and miR-142 and we found that EBV-BART-6-3p and miR-142 synergistically reduced expression of IL-6R and PTEN. Furthermore, we also examined viability of the cells in each treatment group, and showed that EBV-BART-6-3p and miR-142 synergistically promoted proliferation of the cells. CONCLUSIONS These findings improve our knowledge about the role of miR-142/EBV-BART-6-3p and their target, PTEN, in the development of Burkett lymphoma; they could be novel therapeutic targets for the treatment of EBV-positive Burkett lymphoma.
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Linfoma de Burkitt/inmunología , Linfoma de Burkitt/virología , Infecciones por Virus de Epstein-Barr/inmunología , Herpesvirus Humano 4/inmunología , MicroARNs/inmunología , Regiones no Traducidas 3' , Linfoma de Burkitt/genética , Linfoma de Burkitt/patología , Línea Celular Tumoral , Proliferación Celular , Desoxirribonucleasa BamHI/genética , Desoxirribonucleasa BamHI/metabolismo , Regulación hacia Abajo , Infecciones por Virus de Epstein-Barr/genética , Infecciones por Virus de Epstein-Barr/patología , Infecciones por Virus de Epstein-Barr/virología , Perfilación de la Expresión Génica , Herpesvirus Humano 4/genética , Herpesvirus Humano 4/metabolismo , Humanos , MicroARNs/biosíntesis , MicroARNs/genética , MicroARNs/metabolismo , Fosfohidrolasa PTEN/genética , Fosfohidrolasa PTEN/metabolismo , ARN Viral/genética , Análisis de Secuencia de ARN , Proteínas Virales/genética , Proteínas Virales/metabolismoRESUMEN
OBJECTIVE: To study the prevalence of asthma in Qinghai Province between 2006 to 2007. METHODS: According to the geographical location and the altitude (1920 - 4500 m), stratified-cluster-random sampling was use for this study. A total of 27 851 individuals were investigated by household survey at 49 locations in 4 autonomous prefectures, Xining Municipal City and Haidong Administrative District. The questionnaire included respiratory symptoms, personal history, allergic history, and family medical history. Chest X-ray and pulmonary function tests (ventilation function and bronchodilatation test) were performed. Diagnosis of bronchial asthma was made according to the criteria in the Guidelines for Asthma Management by Chinese Respiratory Society. RESULTS: The overall prevalence of asthma was 0.38% (105/27 851). The prevalence of asthma in females was [0.45% (61/13 433)], which was higher than that in males [0.31% (44/14 418)]. The prevalence of asthma in children [0.85% (30/3510)] was higher than that in adults [0.31% (75/24 341)]. The prevalence of asthma in different occupational populations was as follows: farmers [0.61% (46/7524)], government officials and employees [0.23% (12/5252)], half farmers and half herdsmen [0.22% (4/1792)], inhabitants [0.20% (12/5865)], factory workers [0.06% (1/1808)] and herdsmen [0% (0/2100)]. The prevalence of asthma in farmers was higher than those in other occupations. The prevalence of asthma was also different in geographical locations and altitudes, 0.45% (91/20 314) in population living at 1920 - 3000 m above sea level, 0.29% (13/4462) at 3001 - 3500 m above sea level and 0.03% at greater than 3500 m above sea level. The prevalence of asthma in rural, urban, half farming and half herding areas and the pastoral areas was 0.64% (65/10 119), 0.27% (37/13 933), 0.15% (2/1310) and 0.04% (1/2489) respectively; the highest in rural areas and the lowest in the pastoral areas. CONCLUSIONS: The overall prevalence of asthma in Qinghai Province was lower than that in the nation as a whole. The prevalence of asthma in higher altitudes was lower than that in the lower altitudes, and was lower in herdsmen as compared to other occupational populations.
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Asma/epidemiología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Altitud , Niño , Preescolar , China/epidemiología , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Prevalencia , Adulto JovenRESUMEN
Completion of a survey of dermatoglyphic variables for all ethnic groups in an ethnically diverse country like China is a huge research project, and an achievement that anthropological and dermatoglyphic scholars in the country could once only dream of. However, through the endeavors of scientists in China over the last 30 years, the dream has become reality. This paper reports the results of a comprehensive analysis of dermatoglyphics from all ethnic groups in China. Using cluster analysis and principal component analysis of dermatoglyphics, it has been found that Chinese populations can be generally divided into a southern group and a northern group. Furthermore, there has been considerable debate about the origins of many Chinese populations and about proper assignment of these peoples to larger ethnic groups. In this paper, we suggest that dermatoglyphic data can inform these debates by helping to classify a Chinese population as a northern or southern group, using selected reference populations and quantitative methods. This study is the first to assemble and investigate dermatoglyphics from all 56 Chinese ethnic groups. It is fortunate that data on population dermatoglyphics, a field of physical anthropology, have now been collected for all 56 Chinese ethnic groups, because intermarriage between individuals from different Chinese ethnic groups occurs more frequently in recent times, making population dermatoglyphic research an ever more challenging field of inquiry.
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Dermatoglifia , Etnicidad , Geografía , China , HumanosRESUMEN
Fibroblast growth factors (FGFs) play diverse roles in several developmental processes. Mutations leading to deregulated FGF signaling can cause human skeletal dysplasias and cancer.(1,2) Here we report a missense mutation (Ser99Asp) in exon 2 of FGF9 in 12 patients with multiple synostoses syndrome (SYNS) in a large Chinese family. In vitro studies demonstrate that FGF9(S99N) is expressed and secreted as efficiently as wild-type FGF9 in transfected cells. However, FGF9(S99N) induces compromised chondrocyte proliferation and differentiation, which is accompanied by enhanced osteogenic differentiation and matrix mineralization of bone marrow-derived mesenchymal stem cells (BMSCs). Biochemical analysis reveals that S99N mutation in FGF9 leads to significantly impaired FGF signaling, as evidenced by diminished activity of Erk1/2 pathway and decreased beta-catenin and c-Myc expression when compared with wild-type FGF9. Importantly, the binding of FGF9(S99N) to its receptor is severely impaired although the dimerization ability of mutant FGF9 itself or with wild-type FGF9 is not detectably affected, providing a basis for the defective FGFR signaling. Collectively, our data demonstrate a previously uncharacterized mutation in FGF9 as one of the causes of SYNS, implicating an important role of FGF9 in normal joint development.
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Exones , Factor 9 de Crecimiento de Fibroblastos/genética , Mutación Missense , Sinostosis/genética , Adolescente , Adulto , Anciano , Secuencia de Aminoácidos , Animales , Niño , Preescolar , Análisis Mutacional de ADN , Femenino , Factor 9 de Crecimiento de Fibroblastos/química , Humanos , Masculino , Persona de Mediana Edad , Datos de Secuencia Molecular , Linaje , Transducción de SeñalRESUMEN
Amis is the largest aboriginal population in Taiwan. The previous dermatoglyphic studies of the Amis only reported limited data. In this study, we collected and analyzed the dermatoglyphs of 200 Amis individuals, and we reported a wide range of dermatoglyphic variables including total finger ridge count, a-b ridge count, atd angle, axial triradius percent distance, and frequencies of fingerprint pattern, palmar thenar pattern, palmar interdigital pattern, and simian line. This study is the first comprehensive dermatoglyphic research of Amis since 1960s, and its dermatoglyphic data will be useful for future research in anthropology, genetics and medicine.
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Dermatoglifia , Etnicidad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Taiwán/etnologíaRESUMEN
By the 1970s, a number of dermatoglyphic studies of Taiwan aborigines (Gaoshan nationality) had been published, however in each only a few dermatoglyphic variables were addressed. Since that time, little new research has been conducted. In this study, we collected and analyzed the dermatoglyphs of 100 individuals of Kavalan, a Taiwan aboriginal population, and we reported a wide range of dermatoglyphic variables including total finger ridge count (TFRC), a-b total ridge count (a-b RC), atd angle and axial triradius percent distance (tPD), and frequencies of fingerprint pattern, palmar thenar pattern, palmar interdigital pattern, palmar hypothenar pattern, and simian line. This study is the first comprehensive dermatoglyphic research of any Taiwan aboriginal population.