RESUMEN
CAPZA2 encodes the α2 subunit of CAPZA, which is vital for actin polymerization and depolymerization in humans. However, understanding of diseases associated with CAPZA2 remains limited. To date, only three cases have been documented with neurodevelopmental abnormalities such as delayed motor development, speech delay, intellectual disability, hypotonia, and a history of seizures. In this study, we document a patient who exhibited seizures, mild intellectual disability, and impaired motor development yet did not demonstrate speech delay or hypotonia. The patient also suffered from recurrent instances of respiratory infections, gastrointestinal and allergic diseases. A novel de novo splicing variant c.219+1 G > A was detected in the CAPZA2 gene through whole-exome sequencing. This variant led to exon 4 skipping in mRNA splicing, confirmed by RT-PCR and Sanger sequencing. To our knowledge, this is the third study on human CAPZA2 defects, documenting the fourth unambiguously diagnosed case. Furthermore, this splicing mutation type is reported here for the first time. Our research offers additional support for the existence of a CAPZA2-related non-syndromic neurodevelopmental disorder. Our findings augment our understanding of the phenotypic range associated with CAPZA2 deficiency and enrich the knowledge of the mutational spectrum of the CAPZA2 gene.
Asunto(s)
Proteína CapZ , Discapacidades del Desarrollo , Epilepsia , Heterocigoto , Hipotonía Muscular , Mutación , Preescolar , Femenino , Humanos , Masculino , Discapacidades del Desarrollo/genética , Discapacidades del Desarrollo/patología , Epilepsia/genética , Secuenciación del Exoma , Discapacidad Intelectual/genética , Discapacidad Intelectual/patología , Hipotonía Muscular/genética , Hipotonía Muscular/patología , Fenotipo , Empalme del ARN/genética , Proteína CapZ/genéticaRESUMEN
Mental load is a major cause of human-induced accidents. In this study, an explosive impact sensitivity experiment was used to induce mental load. A combination of subjective questionnaires and objective prospective time-distance tests were used to judge whether subjects experienced mental load. Four indicators, namely, ß, γ, mean pupil diameter, and fixation time were selected by statistical analysis and PCA for the construction of a mental load assessment model. The study found that the occipital lobe was the most sensitive to mental load, especially ß and γ bands. Lastly, it was found that subjects showed different degrees of mental load for the same mental load induction task. The results of the study are applicable to the evaluation and monitoring of the mental characteristics of workers and provide a scientific basis for adjusting the mental load of workers over time to reduce the rate of accidents and enhance production efficiency.
Mental load is the main cause of human-induced accidents. This study used an explosive impact sensitivity experiment to induce mental load in subjects. We found that the mean pupil diameter and fixation time, as well as the beta and gamma bands in the occipital lobe were most sensitive to mental load.
RESUMEN
OBJECTIVE: To explore the genetic basis for a child with Isolated sulfite oxidase deficiency (ISOD). METHODS: The child and her parents were subjected to targeted capture and next-generation sequencing. Pathogenicity of candidate variants was assessed based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). RESULTS: The child was found to harbor compound heterozygous variants of the SUOX gene, namely c.1200C>G (p.Tyr400*) and c.1406_1421delCCTGGCAGGTGGCTAA (p.Thr469Serfs*20), which were inherited from her mother and father, respectively. The c.1200C>G was a known pathogenic variant, while the c.1406_1421delCCTGGCAGGTGGCTAA was unreported previously and predicted to be a pathogenic variant (PVS1+PM2_Supporting +PM3) based on the guidelines from the American College of Medical Genetics and Genomics. CONCLUSION: The compound c.1200C>G and c.1406_1421delCCTGGCAGGTGGCTAA variants of the SUOX gene probably underlay the pathogenesis of ISOD in this child. Above finding has expanded the spectrum of SUOX gene variants and provided molecular evidence for the clinical diagnosis and genetic counseling for this pedigree.
Asunto(s)
Errores Innatos del Metabolismo de los Aminoácidos , Niño , Femenino , Humanos , Errores Innatos del Metabolismo de los Aminoácidos/genética , Asesoramiento Genético , Genómica , Secuenciación de Nucleótidos de Alto Rendimiento , MutaciónRESUMEN
Nitrogen loss during composting is closely related to NH4+-N conversion, and ammonia-oxidizing bacteria (AOB) are important microorganisms that promote NH4+-N conversion. Since the biological activity of conventional AOB agents used for compost inoculation declines rapidly during the thermophilic phase of composting, new compound inoculants should be developed that are active during that phase. In the current study, the effects of inoculating cattle manure compost with newly isolated AOB (5%, v/w) [thermotolerant AOB X-2 strain (T-AOB-2), mesophilic AOB X-4 strain (M-AOB-4), and AOB X-2 combined with AOB X-4 (MT-AOB-2-4)] on the conversion of nitrogen, compost maturity, and the resident microbial community were studied. During 35 days of composting, compared with the control, AOB inoculation reduced NH3 emissions by 29.98-46.94%, accelerated the conversion of NH4+-N to NO2--N, increased seed germination values by 13.00-25.90%, and increased the abundance of the microbial community at the thermophilic phase (16.38-68.81%). Network analysis revealed that Bacillaceae play a crucial role in the composting process, with the correlation coefficients: 0.83 (p < 0.05) with NH3, 0.64 (p < 0.05) with NH4+-N, and 0.81 (p < 0.05) with NO2--N. In addition, inoculation with MT-AOB-2-4 notably increased the total nitrogen content of compost, prolonged the sanitation stage, and promoted compost maturity. Hence, MT-AOB-2-4 may be used to increase the microbial community abundance and improve the efficiency of cattle manure composting.
Asunto(s)
Betaproteobacteria , Compostaje , Microbiota , Amoníaco , Animales , Bacterias , Bovinos , Estiércol/microbiología , Nitrógeno , Dióxido de Nitrógeno , Oxidación-Reducción , SueloRESUMEN
BACKGROUND: Biodegradation of antibiotics is a promising method for the large-scale removal of antibiotic residues in the environment. However, the enzyme that is involved in the biodegradation process is the key information to be revealed. RESULTS: In this study, the beta-lactamase from Ochrobactrum tritici that mediates the biodegradation of penicillin V was identified and characterized. When searching the proteins of Ochrobactrum tritici, the ß-lactamase (OtLac) was identified. OtLac consists of 347 amino acids, and predicted isoelectric point is 7.0. It is a class C ß-lactamase according to BLAST analysis. The coding gene of OtLac was amplified from the genomic DNA of Ochrobactrum tritici. The OtLac was overexpressed in E. coli BL21 (DE3) and purified with Ni2+ column affinity chromatography. The biodegradation ability of penicillin V by OtLac was identified in an in vitro study and analyzed by HPLC. The optimal temperature for OtLac is 32 â and the optimal pH is 7.0. Steady-state kinetics showed that OtLac was highly active against penicillin V with a Km value of 17.86 µM and a kcat value of 25.28 s-1 respectively. CONCLUSIONS: OtLac demonstrated biodegradation activity towards penicillin V potassium, indicating that OtLac is expected to degrade penicillin V in the future.
Asunto(s)
Ochrobactrum/enzimología , Ochrobactrum/genética , Penicilinas/metabolismo , beta-Lactamasas/genética , beta-Lactamasas/metabolismo , Antibacterianos/metabolismo , Biodegradación Ambiental , Catálisis , Clonación Molecular , ADN Bacteriano , Fermentación , Concentración de Iones de Hidrógeno , Cinética , Proteínas Recombinantes de Fusión/genética , Proteínas Recombinantes de Fusión/metabolismo , TemperaturaRESUMEN
BACKGROUND: Although hydraulic support can help enterprises in their production activities, it can also cause fatal accidents. METHODS: This study established a composite risk-assessment method for hydraulic support failure in the mining industry. The key basic event of hydraulic support failure was identified based on fault tree analysis and gray relational analysis, and the evolution mechanism of hydraulic support failure was investigated based on chaos theory, a synthetic theory model, and cause-and-effect-layer-of-protection analysis (LOPA). RESULTS: After the basic events of hydraulic support failure are identified based on fault tree analysis, structure importance (SI), probability importance (PI), critical importance (CI), and Fussell-Vesely importance (FVI) can be calculated. In this study, we proposed the Fussell-Vesely-Xu importance (FVXI) to reflect the comprehensive impact of basic event occurrence and nonoccurrence on the occurrence probability of the top event. Gray relational analysis was introduced to determine the integrated importance (II) of basic events and identify the key basic events. According to chaos theory, hydraulic support failure is the result of cross-coupling and infinite amplification of faults in the employee, object, environment, and management subsystems, and the evolutionary process has an obvious butterfly effect and inherent randomness. With the help of the synthetic theory model, we investigated the social and organizational factors that may lead to hydraulic support failure. The key basic event, jack leakage, was analyzed in depth based on cause-and-effect-LOPA, and corresponding independent protection layers (IPLs) were identified to prevent jack leakage. IMPLICATIONS: The implications of these findings with respect to hydraulic support failure can be regarded as the foundation for accident prevention in practice.
Asunto(s)
Salud Laboral , Accidentes , Probabilidad , Medición de RiesgoRESUMEN
The N6-methyladenosine (m6A) modification plays important regulatory roles in gene expression, cancer occurrence and metastasis. Herein, we aimed to explore the association between genetic variants in m6A modification genes and susceptibility to colorectal cancer. We used logistic regression models to investigate the associations between candidate single-nucleotide polymorphisms (SNPs) in 20 m6A modification genes and colorectal cancer risk. The false discovery rate (FDR) method was used for multiple comparisons. Dual luciferase assays and RNA m6A quantifications were applied to assess transcriptional activity and measure m6A levels, respectively. We found that SND1 rs118049207 was significantly associated with colorectal cancer risk in a Nanjing population (odds ratio (OR) = 1.69, 95% confidence interval (95% CI) = 1.31-2.18, P = 6.51 × 10-6). This finding was further replicated in an independent Beijing population (OR = 1.36, 95% CI = 1.04-1.79, P = 2.41 × 10-2) and in a combined analysis (OR = 1.52, 95% CI = 1.27-1.84, P = 8.75 × 10-6). Stratification and interaction analyses showed that SND1 rs118049207 multiplicatively interacted with the sex and drinking status of the patients to enhance their colorectal cancer risk (P = 1.56 × 10-3 and 1.41 × 10-2, respectively). Furthermore, rs118049207 served as an intronic enhancer on SND1 driven by DMRT3. SND1 mRNA expression was markedly increased in colorectal tumour tissues compared with adjacent normal tissues. The colorimetric m6A quantification strategy revealed that SND1 could alter m6A levels in colorectal cancer cell lines. Our findings indicated that genetic variants in m6A modification genes might be promising predictors of colorectal cancer risk.
Asunto(s)
Adenosina/análogos & derivados , Neoplasias Colorrectales/genética , Endonucleasas/genética , Predisposición Genética a la Enfermedad , Adenosina/metabolismo , Anciano , Estudios de Casos y Controles , Línea Celular Tumoral , Femenino , Regulación Neoplásica de la Expresión Génica , Humanos , Masculino , Metilación , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , Procesamiento Postranscripcional del ARN , ARN Mensajero/metabolismoRESUMEN
Thyroid hormones (THs) are vital for normal reproductive function and dysregulation of TH impairs follicular development. Although the functions of THs on female reproduction are of great interest, the mechanisms still remain unclear. Many studies have shown that NO plays important roles in female reproduction. In the present study, we investigate the effects of TH dysregulation on nitric oxide synthase types (NOS) expression in rats. Propylthiouracil (PTU) and L-thyroxine were administered to rats to induce hypo- and hyperthyroidism, respectively. Ovarian histology was detected by immunohistochemistry (IHC) and protein or mRNA content was analyzed by Western blotting or RT-PCR, respectively. The results showed that NOS1, NOS2 and NOS3 expressions were detected in the oocyte, granulosa cell and theca cell in all follicular stages, which were up-regulated by eCG treatment. NOS1 protein content was increased in both PTU and L-thyroxine treatments. There were no significant differences in NOS2 levels between the treatment and the control group. However, NOS3 was only increased in the hyperthyroid group. These results were consistent with the IHC staining. The present study provides evidence that TH dysregulation alters NOSs profiles, which suggests that NOSs/nitric oxide (NO) is possibly involved in the regulation of female reproduction.
Asunto(s)
Óxido Nítrico Sintasa/metabolismo , Glándula Tiroides/enzimología , Glándula Tiroides/fisiopatología , Animales , Gonadotropina Coriónica/farmacología , Femenino , Caballos , Hipertiroidismo/enzimología , Hipotiroidismo/enzimología , Isoenzimas/metabolismo , Folículo Ovárico/efectos de los fármacos , Folículo Ovárico/enzimología , Ratas Sprague-Dawley , Glándula Tiroides/efectos de los fármacos , Hormonas Tiroideas/metabolismoRESUMEN
Circular RNAs (circRNAs) are an intriguing class of regulatory RNAs involved in the tumorigenesis of many cancers, including colorectal cancer. Mechanistically, circRNAs sponge microRNAs (miRNAs) with specific miRNA response elements (MREs) and compete for regulatory target genes downstream. However, the genetic effects of MREs on colorectal cancer susceptibility remain unclear. The MREs of colorectal cancer-associated circRNAs (CRC-circRNAs) and corresponding single nucleotide polymorphisms (SNPs) were identified by the transcriptome of cancer cells and the 1000 Genomes Project. The association between candidate SNPs and colorectal cancer risk was evaluated in a Chinese population (1150 cases and 1342 controls) and two European populations (9023 cases and 386,896 controls) using logistic regression analysis. Among the 197 candidate SNPs within MREs of 186 CRC-circRNAs, rs25497 in circTUBB was significantly associated with colorectal cancer risk in a Chinese population after false discovery rate (FDR) correction [odds ratio (OR) = 1.78, 95% confidence interval (CI) = 1.44-2.21, P = 1.42 × 10-7, PFDR = 2.80 × 10-5] and even reached significance in a genome-wide association study (GWAS) under the dominant model (P = 1.28 × 10-8). Similar results were found in the European populations (ORmeta = 1.30, 95% CI = 1.10-1.53). Both stratification and interaction analyses revealed that rs25497 interacting with smoking affected the colorectal cancer risk (Pinteraction = 1.48 × 10-2). Here, we first comprehensively identified genetic variants in MREs of CRC-circRNAs and evaluated their effects on colorectal cancer risk in both Chinese and European populations. These findings provide basis for a comprehensive understanding of colorectal cancer etiology.
Asunto(s)
Neoplasias Colorrectales/genética , ARN Circular/genética , Fumar/genética , Anciano , Pueblo Asiatico/genética , Estudios de Casos y Controles , Femenino , Regulación Neoplásica de la Expresión Génica , Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo , Células HT29 , Humanos , Masculino , MicroARNs , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , Elementos de Respuesta , Fumar/efectos adversos , Población Blanca/genéticaRESUMEN
Single nucleotide polymorphisms (SNPs) within binding sites of microRNAs (miRNAs) could modify cancer susceptibility by changing the binding affinity of miRNAs on their target mRNA 3'-untranslated regions (UTRs). MicroRNA-21 (miR-21) is involved in the development of colorectal cancer. However, the relationship between SNPs within the binding sites of miR-21 and colorectal cancer risk has not been widely investigated. A case-control study including 1147 patients and 1203 controls was performed to evaluate the association of SNPs in miR-21 binding sites and colorectal cancer risk. Dual-luciferase reporter assays and functional assays were performed to evaluate the effects of miR-21. The SNP rs6504593 C allele conferred an increased risk of colorectal cancer compared with the T allele in an additive model (odds ratio [OR] = 1.19, 95% confidence interval [CI] = 1.04-1.36, P = 0.011). Dual-luciferase reporter assays demonstrated that the rs6504593 T allele negatively post-transcriptionally regulated IGF2BP1 by altering the binding affinity of miR-21. Additionally, colorectal cancer cells transiently transfected with miR-21 mimics promoted cell proliferation and suppressed apoptosis, whereas inhibition of miR-21 decreased cell growth. These data suggest that the miR-21 binding site SNP rs6504593 in the IGF2BP1 3'-UTR may alter IGF2BP1 expression and contribute to colorectal cancer risk.
Asunto(s)
Sitios de Unión/genética , Neoplasias Colorrectales/genética , MicroARNs/genética , Polimorfismo de Nucleótido Simple/genética , Regiones no Traducidas 3'/genética , Alelos , Estudios de Casos y Controles , Línea Celular Tumoral , Proliferación Celular/genética , Femenino , Regulación de la Expresión Génica/genética , Células HCT116 , Humanos , Masculino , ARN Mensajero/genética , RiesgoRESUMEN
The coal mine production industry is a complex sociotechnical system with interactive relationships among several risk factors. Currently, causation analysis of gas explosion accidents is mainly focused on the aspects of human error and equipment fault, while neglecting the interactive relationships among risk factors. A new method is proposed through risk coupling. First, the meaning of risk coupling of a gas explosion is defined, and types of risk coupling are classified. Next, the coupled relationship and coupled effects among risk factors are explored through combining the interpretative structural modeling (ISM) and the NK model. Twenty-eight representative risk factors and 16 coupled types of risk factors are obtained through analysis of 332 gas explosion accidents in coal mines in China. Through the application of the combined ISM-NK model, an eight-level hierarchical model of risk coupling of a gas explosion accident is established, and the coupled degrees of different types of risk coupling are assessed. The hierarchical model reveals that two of the 28 risk factors, such as state policies, laws, and regulations, are the root risk factors for gas explosions; nine of the 28 risk factors, such as flame from blasting, electric spark, and local gas accumulation, are direct causes of gas explosions; whereas 17 of the risk factors, such as three-violation actions, ventilation system, and safety management, are indirect ones. A quantitative analysis of the NK model shows that the probability of gas explosion increases with the increasing number of risk factors. Compared with subjective risk factors, objective risk factors have a higher probability of causing gas explosion because of risk coupling.
RESUMEN
Cytochrome P450 family 19 (CYP19) plays an important role in follicular development, which is regulated by FSH. Although 3,5,3'-tri-iodothyronine (T3) combines with FSH to induce preantral follicle growth and granulosa cell development, the mechanism involved remains unclear. The aim of the present study was to determine the cellular and molecular mechanisms by which thyroid hormone (TH) and FSH regulate CYP19 expression and sterol biosynthesis during preantral follicle growth. Mice were injected subcutaneously (s.c.) with eCG (Equine chorionic gonadotropin). The results showed that eCG increased CYP19 expression in ovarian cells. CYP19 expression in granulosa cells was increased after FSH treatment, and this response was enhanced by T3. Knockdown of CYP19 significantly decreased granulosa cell viability and hormone-stimulated proliferation. In addition, CYP19 knockdown also blocked T3- and FSH-induced oestradiol (E2) synthesis in granulosa cells. Furthermore, activation of the phosphatidylinositol 3-kinase (PI3K)/Akt pathway was required for T3 and FSH regulation of CYP19 expression. In conclusion, the results of the present study indicate that CYP19 is important for T3- and FSH-induced granulosa cell development in the early stages. CYP19 could be a downstream effector of the PI3K/Akt pathway in regulating TH and FSH during follicular development and sterol biosynthesis. The findings suggest that CYP19 is a novel mediator of T3- and FSH-induced follicular development.
Asunto(s)
Aromatasa/metabolismo , Hormona Folículo Estimulante/farmacología , Células de la Granulosa/efectos de los fármacos , Triyodotironina/farmacología , Animales , Aromatasa/genética , Gonadotropina Coriónica/farmacología , Estradiol/biosíntesis , Femenino , Técnicas de Silenciamiento del Gen , Gonadotropinas Equinas/farmacología , Células de la Granulosa/metabolismo , Ratones , Folículo Ovárico/efectos de los fármacos , Folículo Ovárico/metabolismoRESUMEN
Although studies have investigated the association of genetic variants and the abnormal expression of estrogen-related genes with colorectal cancer risk, the evidence remains inconsistent. We clarified the relationship of genetic variants in estrogen metabolic pathway genes with colorectal cancer risk and survival. A case-control study was performed to assess the association of single-nucleotide polymorphisms (SNPs) in ten candidate genes with colorectal cancer risk in a Chinese population. A logistic regression model and Cox regression model were used to calculate SNP effects on colorectal cancer susceptibility and survival, respectively. Expression quantitative trait loci (eQTL) analysis was conducted using the Genotype-Tissue Expression (GTEx) project dataset. The sequence kernel association test (SKAT) was used to perform gene-set analysis. Colorectal cancer risk and rs3760806 in SULT2B1 were significantly associated in both genders [male: OR = 1.38 (1.15-1.66); female: OR = 1.38 (1.13-1.68)]. Two SNPs in SULT1E1 were related to progression-free survival (PFS) [rs1238574: HR = 1.24 (1.02-1.50), P = 2.79 × 10-2; rs3822172: HR = 1.30 (1.07-1.57), P = 8.44 × 10-3] and overall survival (OS) [rs1238574: HR = 1.51 (1.16-1.97), P = 2.30 × 10-3; rs3822172: HR = 1.53 (1.67-2.00), P = 2.03 × 10-3]. Moreover, rs3760806 was an eQTL for SULT2B1 in colon samples (transverse: P = 3.6 × 10-3; sigmoid: P = 1.0 × 10-3). SULT2B1 expression was significantly higher in colorectal tumor tissues than in normal tissues in the Cancer Genome Atlas (TCGA) database (P < 1.0 × 10-4). Our results indicated that SNPs in estrogen metabolic pathway genes confer colorectal cancer susceptibility and survival.
Asunto(s)
Pueblo Asiatico/genética , Neoplasias Colorrectales/genética , Estrógenos/metabolismo , Polimorfismo de Nucleótido Simple , Sitios de Carácter Cuantitativo/genética , Sulfotransferasas/genética , Estudios de Casos y Controles , Neoplasias Colorrectales/mortalidad , Neoplasias Colorrectales/patología , Femenino , Humanos , Masculino , Modelos de Riesgos Proporcionales , Transducción de Señal/genética , Análisis de SupervivenciaRESUMEN
Thyroid hormones (THs) play a critical role in the development of ovarian cells. Although the effects of THs on female reproduction are of great interest, the mechanism remains unclear. We investigated the effects of TH dysregulation on reproductive hormones in rats. Propylthiouracil (PTU) and L-thyroxine were administered to rats to induce hypo- and hyperthyroidism, respectively, and the reproductive hormone profiles were analyzed by radioimmunoassay (RIA). Ovarian histology was evaluated with hematoxylin and eosin (H&E) staining, and gene protein level or mRNA content was analyzed by western blotting or reverse transcription polymerase chain reaction (RT-PCR). The serum levels of gonadotropin releasing hormone (GnRH) and follicle stimulating hormone (FSH) in both rat models were significantly decreased on day 21, although there were no significant changes at earlier time points. There were no significant differences in luteinizing hormone (LH) or progesterone (P4) levels between the treatment and the control groups. Both PTU and L-thyroxine treatments downregulated estradiol (E2) concentrations; however, the serum testosterone (T) level was increased only in hypothyroid rats at day 21. In addition, the expression levels of FSH receptor, cholesterol side-chain cleavage enzyme (P450scc), and steroidogenic acute regulatory protein (StAR) were decreased in both rat models. Moreover, the onset of puberty was significantly delayed in the hypothyroid group. These results provide evidence that TH dysregulation alters reproductive hormone profiles, and that the initiation of the estrous cycle is postponed in hypothyroidism.
Asunto(s)
Estradiol/sangre , Hormona Folículo Estimulante/sangre , Hormona Liberadora de Gonadotropina/sangre , Hipertiroidismo/sangre , Hipotiroidismo/sangre , Glándula Tiroides/fisiopatología , Animales , Biomarcadores/sangre , Enzima de Desdoblamiento de la Cadena Lateral del Colesterol/metabolismo , Modelos Animales de Enfermedad , Ciclo Estral , Femenino , Hipertiroidismo/inducido químicamente , Hipertiroidismo/fisiopatología , Hipotiroidismo/inducido químicamente , Hipotiroidismo/fisiopatología , Hormona Luteinizante/sangre , Ovario/metabolismo , Fosfoproteínas/metabolismo , Progesterona/sangre , Propiltiouracilo , Ratas Sprague-Dawley , Maduración Sexual , Testosterona/sangre , Glándula Tiroides/metabolismo , Hormonas Tiroideas/sangre , Tiroxina , Factores de TiempoRESUMEN
AIMS: To assess the language function of children with benign epilepsy with centrotemporal spikes (BECTS), and investigate associated risk factors. METHODS: The language function of 63 children with BECTS and 30 healthy controls was assessed using the language subtest of the Chinese version of the Wechsler Intelligence Scale for Children (C-WISC). Multiple linear regression analysis was applied to assess the risk factors of language dysfunction in children with BECTS. RESULTS: The total score of language test of C-WISC, and the individual scores, were significantly lower in children with BECTS compared with the scores attained by the healthy controls, and were also significantly lower in children with BECTS with onset earlier than 6 years of age compared with those whose disease onset occurred later. There were no significant correlations between language function and treatment, frequency of seizures, lateralization of centrotemporal spikes, or duration of seizures, but there was a positive correlation between language dysfunction and the age at disease onset. CONCLUSION: Children with BECTS have language difficulties, especially those with earlier disease onset. Early age at seizure onset is a risk factor for language dysfunction in children with BECTS.
Asunto(s)
Epilepsia Rolándica/complicaciones , Trastornos del Desarrollo del Lenguaje/etiología , Adolescente , Edad de Inicio , Niño , Preescolar , Femenino , Humanos , Pruebas del Lenguaje , Modelos Lineales , Masculino , Factores de Riesgo , Convulsiones/complicacionesRESUMEN
As a novel form of cell death, oxeiptosis is mainly caused by oxidative stress and has been defined to contribute to the cellular death program in cancer. However, the precise involvement of oxeiptosis-related long non-coding RNAs (lncRNAs) within gastric cancer (GC) remains elusive. Thus, our study was aimed to elucidate the pivotal effect of hub oxeiptosis-related lncRNAs on GC by comprehensively analyzing lncRNA and gene expression data obtained from The Cancer Genome Atlas (TCGA) database. Subsequently, we constructed a risk signature (risk-sig) using lncRNAs and further evaluated its prognostic significance. We successfully identified thirteen lncRNAs closely related with oxeiptosis that exhibited significant relevance to the prognosis of GC, forming the foundation of our meticulously constructed risk-sig. Notably, our clinical analyses unveiled a strong correlation between the risk-sig and crucial clinical parameters including overall survival (OS), gender, TNM stage, grade, M stage, and N stage among GC patients. Intriguingly, the diagnostic accuracy of this risk-sig surpassed that of conventional clinicopathological characteristics, underscoring its potential as a highly informative prognostic tool. In-depth mechanistic investigations further illuminated a robust association between this risk-sig and fundamental biological processes such as tumor stemness, immune cell infiltration, and immune subtypes. These findings provide valuable insights into the complex interplay between oxeiptosis-related lncRNAs and the intricate molecular landscape of GC. Ultimately, leveraging the risk scores derived from our comprehensive analysis, we successfully developed a nomogram that enables accurate prediction of GC prognosis. Collectively, our study established a solid foundation for the integration of thirteen hub oxeiptosis-related lncRNAs into a clinically applicable risk-sig, potentially revolutionizing prognostic assessment in GC and facilitating the development of innovative therapeutic strategies.
Asunto(s)
ARN Largo no Codificante , Neoplasias Gástricas , Humanos , Neoplasias Gástricas/genética , ARN Largo no Codificante/genética , Pronóstico , Nomogramas , Muerte CelularRESUMEN
Excessive cavity pressure may result in a sand casting explosion, and corresponding measures should be adopted to prevent these consequences. In this study, the pressure variations in the cavity were first investigated based upon on-site testing by taking the resin contents into consideration, and then the evolution characteristics of sand casting explosion accidents were analyzed in depth by system dynamics, chaos theory, and the bow-tie model. When the resin contents are 1.3 wt%, 1.4 wt%, and 1.5 wt%, the pressures of the gas vent increase by 27.0 Pa, 32.8 Pa, and 35.6 Pa, respectively. To reduce the pressure of the cavity, the resin content should be reduced. The evolutionary process of sand casting explosion accidents has a noticeable butterfly effect and randomness, whose occurrence is comprehensively affected by human, object, environment, management and emergency subsystems. The leading causes of sand casting explosion accidents mainly include the extensive gas evolution characteristics of foundry sand, cavity exhaust blockage, and inadequate safety monitoring. The leading consequences of sand casting explosion accidents mainly include casualties, secondary disasters, and social panic. The implications of these findings concerning sand casting explosion accidents can be regarded as the foundation for accident prevention in practice.
RESUMEN
Aluminumlithium (AlLi) alloy polishing and grinding processes in wet dust collector systems could cause hydrogen fire and explosion. From the fundamental perspective of preventing hydrogen explosions, a safe, nontoxic, and sustainable modified green hydrogen inhibitor based on chitosan (CS) and sodium alginate (SA) was developed in this study and was used as a hydrogen evolution inhibitor for the processing of waste dust from AlLi alloys. The structure and elemental distribution of the synthesized material were characterized through characterization experiments. Hydrogen evolution experiments and a hydrolysis kinetic model were used to explore the inhibitory effect of modified CS/SA on AlLi alloy dust, and the results revealed that the inhibitory concentration of the hydrogen explosion lower limit was 0.40 wt%, with an inhibition efficiency of 91.93 %, indicating an 11.88-61.44 % improvement over that of CS and SA. As the inhibitor concentration increased and the temperature decreased, the hydrogen inhibition effect increased. Characterization experiments and density functional theory showed that CS/SA primarily formed a dense physical protective barrier on the dust surface through chemical adsorption and complexation reactions, interrupting the hydrogen evolution reaction between the metal and water. This study introduces a novel green modified hydrogen inhibitor that fundamentally addresses hydrogen generation and explosion.
RESUMEN
The tolerance of Pseudomonas monteilii X1, isolated from pig manure compost, to Cd and Zn, as well as its capacity for biosorption, were investigated. The minimum inhibitory concentrations (MIC) of Cd and Zn for the strain were 550 mg/L and 800 mg/L, respectively. Untargeted metabolomics analysis revealed that organic acids and derivatives, lipids and lipid-like molecules, and organic heterocyclic compounds were the main metabolites. The glyoxylate and dicarboxylate metabolism pathway were significantly enriched under Cd2+ stress. The isothermal adsorption and adsorption kinetics experiments determined that the strain had adsorption capacities of 9.96 mg/g for Cd2+ and 23.4 mg/g for Zn2+. Active groups, such as hydroxyl, carboxyl, and amino groups on the cell surface, were found to participate in metal adsorption. The strain was able to convert Zn2+ into Zn3(PO4)2·4H2O crystal. Overall, this study suggested that Pseudomonas monteilii has potential as a remediation material for heavy metals.
Asunto(s)
Compostaje , Metales Pesados , Pseudomonas , Porcinos , Animales , Cadmio/química , Zinc/química , Estiércol , Metales Pesados/análisis , Cinética , Compuestos Orgánicos , AdsorciónRESUMEN
Bisphenol-A (BPA) is an emerging hazardous contaminant, which is ubiquitous in the environment and can cause endocrine disruptor and cancer risks. Therefore, biodegradation of BPA is an essential issue to mitigate the associated human health. In this work, a bacterial strain enables of degrading BPA, named BPA-LRH8 (identified as Xenophilus sp.), was newly isolated from activated sludge and embedded onto walnut shell biochar (WSBC) to form a bio-composite (BCM) for biodegradation of BPA in water. The Langmuir maximum adsorption capacity of BPA by WSBC was 21.7 mg g-1. The free bacteria of BPA-LRH8 showed high BPA degradation rate (â¼100 %) at pH 5-11, while it was lower (ï¼20 %) at pH 3. The BCM eliminated all BPA (â¼100 %) at pH 3-11 and 25-45 °C when the BPA level was ≤ 25 mg L-1. The spectrometry investigations suggested two possible degradation routes of BPA by Xenophilus sp. In one route, BPA (C15H16O3) was oxidized to C15H16O3, and then broken into C9H12O3 through chain scission. In another route, BPA was likely hydroxylated, oxidized, and cleaved into C9H10O4P4, which was further metabolized into CO2 and H2O in the TCA cycle. This study concluded that the novel isolated bacteria (BPA-LRH8) embedded onto WSBC is a promising and new method for the effective removal of BPA and similar hazardous substances from contaminated water under high concentrations and wide range of pH and temperature.