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Alpha-tubulin 4A encoding gene (TUBA4A) has been associated with familial amyotrophic lateral sclerosis (fALS) and fronto-temporal dementia (FTD), based on identification of likely pathogenic variants in patients from distinct ALS and FTD cohorts. By screening a multicentric French cohort of 448 unrelated probands presenting with cerebellar ataxia, we identified ultra-rare TUBA4A missense variants, all being absent from public databases and predicted pathogenic by multiple in-silico tools. In addition, gene burden analyses in the 100,000 genomes project (100KGP) showed enrichment of TUBA4A rare variants in the inherited ataxia group compared to controls (OR: 57.0847 [10.2- 576.7]; p = 4.02 x10-07). Altogether, we report 12 patients presenting with spasticity and/or cerebellar ataxia and harboring a predicted pathogenic TUBA4A missense mutation, including 5 confirmed de novo cases and a mutation previously reported in a large family presenting with spastic ataxia. Cultured fibroblasts from 3 patients harboring distinct TUBA4A missense showed significant alterations in microtubule organisation and dynamics, providing insight of TUBA4A variants pathogenicity. Our data confirm the identification of a hereditary spastic ataxia disease gene with variable age of onset, expanding the clinical spectrum of TUBA4A associated phenotypes.
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This paper specifically focuses on the absorber, the critical component responsible for the detector's response performance. The meta-surface absorber combines two resonant structures and achieves over 80% absorptance around 210â GHz, resulting in a broad operating frequency range. FR-4 is selected as the dielectric layer to be compatible with standard printed circuit board (PCB) technology, which reduces the overall fabrication time and cost. The absorbing unit and array layout are symmetrically designed, providing stable absorptance performance even under incident waves of different polarization angles. The polarization-insensitive absorptance characteristic further enhances the compatibility between the absorber and the detector in the application scenario. Furthermore, the thermal insulation performance of the absorber is ensured by introducing thermal insulation gaps. After completing fabrication through PCB technology, testing revealed that the absorber maintained excellent absorptance performance within its primary operating frequency range. This performance consistency closely matched the simulation results.
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Bi-allelic variants affecting one of the four genes encoding the AP4 subunits are responsible for the "AP4 deficiency syndrome." Core features include hypotonia that progresses to hypertonia and spastic paraplegia, intellectual disability, postnatal microcephaly, epilepsy, and neuroimaging features. Namely, AP4M1 (SPG50) is involved in autosomal recessive spastic paraplegia 50 (MIM#612936). We report on three patients with core features from three unrelated consanguineous families originating from the Middle East. Exome sequencing identified the same homozygous nonsense variant: NM_004722.4(AP4M1):c.1012C>T p.Arg338* (rs146262009). So far, four patients from three other families carrying this homozygous variant have been reported worldwide. We describe their phenotype and compare it to the phenotype of patients with other variants in AP4M1. We construct a shared single-nucleotide polymorphism (SNP) haplotype around AP4M1 in four families and suggest a probable founder effect of Arg338* AP4M1 variant with a common ancestor most likely of Turkish origin.
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Epilepsia , Discapacidad Intelectual , Paraplejía Espástica Hereditaria , Humanos , Discapacidad Intelectual/genética , Mutación/genética , Efecto Fundador , Paraplejía/genética , Paraplejía Espástica Hereditaria/genética , Epilepsia/genética , Linaje , FenotipoRESUMEN
In-band full duplex (IBFD) is regarded as one of the most significant technologies for addressing the issue of spectrum scarcity in 5G and beyond systems. In the realization of practical IBFD systems, self-interference, i.e., the interference that the transmitter causes to the collocated receiver, poses a major challenge to antenna designers; it is a prerequisite for applying other self-interference cancellation (SIC) techniques in the analog and digital domains. In this paper, a comprehensive survey on SIC techniques in the antenna/propagation (AP) domain is provided and the pros and cons of each technique are studied. Opportunities and challenges of employing IBFD antennas in future wireless communications networks are discussed.
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Redes de Comunicación de Computadores , Tecnología Inalámbrica , ComunicaciónRESUMEN
BACKGROUND: Severe congenital ophthalmological malformations and glaucoma might be an important occasional feature in patients with Coffin-Siris syndrome (CSS), especially Coffin-Siris syndrome 9 (CSS9, OMIM #615866) caused by SOX11 mutation. Recently, primary (open-angle) glaucoma was described in two children with the most common form of Coffin-Siris syndrome, CSS1 (OMIM #135900) by ARID1B (AT-rich interaction domain-containing protein 1B) gene mutation. In this article, we present the first report of glaucoma with Coffin-Siris syndrome 9 as well as the first report of secondary glaucoma with any form of Coffin-Siris syndrome. These findings indicate that secondary glaucoma is an occasional finding in patients with Coffin-Siris syndrome. CASE PRESENTATION: A child with secondary childhood glaucoma and additional ocular manifestations was evaluated and treated at the childhood glaucoma centre in Mainz, Germany. Examination under general anaesthesia revealed ocular anterior segment dysgenesis (ASD) (Peters type iridocorneal dysgenesis) in combination with congenital limbal stem cell deficiency (LSCD), aniridia, and cataract. The patient also had multiple other congenital anomalies and severe developmental delay. To explain his combination of anomalies, molecular genetic analysis from peripheral blood was performed in late 2018 and early 2019. Following normal findings with a panel diagnostic of 18 genes associated with congenital glaucoma, whole exome sequencing was performed and revealed a novel likely pathogenic heterozygous variant c.251G>T, p.(Gly84Val) in the SOX11 gene (SRY-related HMG-box gene 11). The variant had occurred de novo. Thus, the multiple congenital anomalies and developmental delay of the patient represented Coffin-Siris syndrome 9 (CSS9, OMIM #615866). CONCLUSIONS: When eye diseases occur in combination with other systemic features, genetic analysis can be seminal. Results indicate that glaucoma is an occasional feature of patients with Coffin-Siris syndrome. As early treatment may improve the visual outcome of patients with glaucoma, we suggest that patients with Coffin-Siris syndrome should receive specific ophthalmological screening.
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Anomalías Múltiples , Cara/anomalías , Deformidades Congénitas de la Mano , Hidroftalmía , Discapacidad Intelectual , Micrognatismo , Cuello/anomalías , Niño , Preescolar , Alemania , Humanos , Lactante , MasculinoRESUMEN
Recently, investigation of metasurfaces has been extended to wave control through exploiting nonlinearity. Among all of the ways to achieve tunable metasurfaces with multiplexed performances, nonlinearity is one of the promising choices. Although several proposals have been reported to obtain nonlinear architectures at visible frequencies, the area of incorporating nonlinearity in form of passive-designing at microwave metasurfaces is open for investigation. In this paper, a passive wideband nonlinear metasurface is manifested, which is composed of embedded L-shape and Γ -shape meta-atoms with PIN-diode elements. The proposed self-biased nonlinear metasurface has two operational states: at low power intensities, it acts as a Quarter Wave Plate (QWP) in the frequency range from 13.24 GHz to 16.38 GHz with an Axial Ratio (AR) of over 21.2%. In contrast, at high power intensities, by using the polarization conversion property of the proposed PIN-diode based meta-atoms, the metasurface can act as a digital metasurface. It means that by arranging the meta-atoms with a certain coding pattern, the metasurface can manipulate the scattered beams and synthesize well-known patterns such as diffusion-like and chessboard patterns at an ultra-wide frequency range from 8.12 GHz to 19.27 GHz (BW=81.4%). Full-wave and nonlinear simulations are carried out to justify the performance of the wideband nonlinear metasurface. We expect the proposed self-biased nonlinear metasurface at microwave frequencies reveals excellent opportunities to design limiter metasurfaces and compact reconfigurable imaging systems.
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There are two forms of diabetes insipidus, central (neurohypophyseal), and nephrogenic, caused by pathogenic variants in the AVP gene and the AVPR2 or AQP2 genes, respectively. We report on a four-generation family, seven individuals had central diabetes insipidus (CDI) and the female index patient seen from age 16 to 26 years had (mild) nephrogenic diabetes insipidus. In her father with CDI, a known pathogenic heterozygous AVP variant c.232_234del p.(Glu78del) was identified, confirming the diagnosis of CDI in him and the other affected family members. In the proband, molecular analysis disclosed a novel heterozygous AVPR2 gene variant, c.962A > T p.(Asn321Ile) and an extremely skewed X-inactivation, confirming X-linked nephrogenic diabetes insipidus (XL-NDI). Whole exome sequencing showed no further causative mutation. This is the first report on the co-existence of CDI and NDI in one family. Our review of symptomatic female AVPR2 heterozygotes includes 23 families with at least one affected female (including this study). There were 21 different causative mutations. Mutation types in females did not differ from those in males. Both severe XL-NDI and mild forms were reported in females. All six females with severe XL-NDI had complete loss-of-function (null) mutations. The remaining 17 female probands had milder XL-NDI caused by 14 missense variants and three null variants of the AVPR2 gene. X-inactivation was studied in nine of these females; all showed extreme or slight skewing. The review underlines that XL-NDI in female AVPR2 heterozygotes is always accompanied by skewed X-inactivation, emphasizing a need for X-inactivation studies in these females.
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Acuaporina 2/genética , Diabetes Insípida Nefrogénica/genética , Diabetes Insípida Neurogénica/genética , Neurofisinas/genética , Precursores de Proteínas/genética , Receptores de Vasopresinas/genética , Vasopresinas/genética , Adolescente , Adulto , Diabetes Insípida Nefrogénica/epidemiología , Diabetes Insípida Nefrogénica/fisiopatología , Diabetes Insípida Neurogénica/epidemiología , Diabetes Insípida Neurogénica/fisiopatología , Diabetes Mellitus/epidemiología , Diabetes Mellitus/genética , Diabetes Mellitus/fisiopatología , Femenino , Genes Ligados a X/genética , Humanos , Masculino , Mutación Missense/genética , Linaje , Secuenciación del Exoma , Inactivación del Cromosoma X/genética , Adulto JovenRESUMEN
This paper presents a novel single-layer dual band-rejection-filter based on Spoof Surface Plasmon Polaritons (SSPPs). The filter consists of an SSPP-based transmission line, as well as six coupled circular ring resonators (CCRRs) etched among ground planes of the center corrugated strip. These resonators are excited by electric-field of the SSPP structure. The added ground on both sides of the strip yields tighter electromagnetic fields and improves the filter performance at lower frequencies. By removing flaring ground in comparison to prevalent SSPP-based constructions, the total size of the filter is significantly decreased, and mode conversion efficiency at the transition from co-planar waveguide (CPW) to the SSPP line is increased. The proposed filter possesses tunable rejection bandwidth, wide stop bands, and a variety of different parameters to adjust the forbidden bands and the filter's cut-off frequency. To demonstrate the filter tunability, the effect of different elements like number (n), width (WR), radius (RR) of CCRRs, and their distance to the SSPP line (yR) are surveyed. Two forbidden bands, located in the X and K bands, are 8.6-11.2 GHz and 20-21.8 GHz. As the proof-of-concept, the proposed filter was fabricated, and a good agreement between the simulation and experiment results was achieved.
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Background: Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by α-galactosidase A deficiency leading to intracellular glycosphingolipid accumulation. FD manifestation is multisystem, and can differ depending on disease-related genetic variants. Currently, more than 700 different FD-causing mutations have been identified in the human GLA gene. We identified a novel mutation in a Lithuanian family with classical manifestations of Fabry disease, revealing severe effects to the cardiovascular systems of heterozygous women. Case presentation: A 49-year-old woman underwent echocardiography due to progressive dyspnea that lasted seven years, reduced physical activity, and periodic cardiac arrhythmia. Echocardiography revealed left ventricular hypertrophy with normal diastolic function. The patient had experienced acroparesthesia in her upper limbs and abdominal pain since childhood, and in the last decade had experienced mild proteinuria without renal failure. Her renal biopsy was typical for Fabry disease. The patient's brain magnetic resonance imaging (MRI) (T2 flair) showed white matter hyperintensities lesions. DNA sequencing of the proband, her mother and one of her sons showed a novel GLA gene exon 2 mutation, c.270C>G (p.Cys90Trp). All three patients had decreased α-galactosidase A activity and specific FD manifestations. Conclusion: A novel GLA mutation, c.270C>G (p.Cys90Trp), was found in a Lithuanian family with a classical form of Fabry disease in heterozygous women with predominant cardiac involvement. However, the exact manifestation of this mutation is still unclear as it is newly reported and further research must be done.
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Enfermedad de Fabry/genética , alfa-Galactosidasa/análisis , Disnea/etiología , Electrocardiografía/métodos , Enfermedad de Fabry/epidemiología , Femenino , Glucolípidos/análisis , Glucolípidos/sangre , Humanos , Lituania , Persona de Mediana Edad , Mutación/fisiología , Esfingolípidos/análisis , Esfingolípidos/sangre , alfa-Galactosidasa/sangreRESUMEN
-A novel photonic crystal fiber (PCF) design that yields very high birefringence is proposed and analyzed. Its significantly enhanced birefringence is achieved by filling selected air holes in the cladding with an epsilon-near-zero (ENZ) material. Extensive simulation results of this asymmetric material distribution in the lower THz range demonstrate that the reported PCF has a birefringence above 0.1 and a loss below 0.01 cm-1 over a wide band of frequencies. Moreover, it exhibits near zero dispersion at 0.75 THz for both the X- and Y-polarization modes and a birefringence equal to 0.28. This THz PCF is then scaled successfully to optical frequencies. While the high birefringence is maintained, this optical PCF has a very high loss in its Y-polarization mode and, consequently, yields single-polarization single-mode (SPSM) propagation, exhibiting near zero dispersion at the optical telecom wavelength of 1.55 µm. The ideal ENZ materials used for these conceptual models are replaced with realistic ones for both the THz and optical PCF designs. With the currently available ENZ materials, the realistic PCFs still have a high birefringence, but with higher losses compared to the idealized results. Future developments of ENZ materials that achieve lower loss properties will mitigate this issue in any frequency band of high interest.
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Arthrogryposis multiplex congenita (AMC) is caused by heterogeneous pathologies leading to multiple antenatal joint contractures through fetal akinesia. Understanding the pathophysiology of this disorder is important for clinical care of the affected individuals and genetic counseling of the families. We thus aimed to establish the genetic basis of an AMC subtype that is associated with multiple dysmorphic features and intellectual disability (ID). We used haplotype analysis, next-generation sequencing, array comparative genomic hybridization, and chromosome breakpoint mapping to identify the pathogenic mutations in families and simplex cases. Suspected disease variants were verified by cosegregation analysis. We identified disease-causing mutations in the zinc-finger gene ZC4H2 in four families affected by X-linked AMC plus ID and one family affected by cerebral palsy. Several heterozygous females were also affected, but to a lesser degree. Furthermore, we found two ZC4H2 deletions and one rearrangement in two female and one male unrelated simplex cases, respectively. In mouse primary hippocampal neurons, transiently produced ZC4H2 localized to the postsynaptic compartment of excitatory synapses, and the altered protein influenced dendritic spine density. In zebrafish, antisense-morpholino-mediated zc4h2 knockdown caused abnormal swimming and impaired α-motoneuron development. All missense mutations identified herein failed to rescue the swimming defect of zebrafish morphants. We conclude that ZC4H2 point mutations, rearrangements, and small deletions cause a clinically variable broad-spectrum neurodevelopmental disorder of the central and peripheral nervous systems in both familial and simplex cases of both sexes. Our results highlight the importance of ZC4H2 for genetic testing of individuals presenting with ID plus muscle weakness and minor or major forms of AMC.
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Anomalías Múltiples/genética , Artrogriposis/genética , Proteínas Portadoras/genética , Predisposición Genética a la Enfermedad/genética , Discapacidad Intelectual/genética , Plasticidad Neuronal/genética , Dedos de Zinc/genética , Anomalías Múltiples/patología , Animales , Artrogriposis/patología , Células Cultivadas , Puntos de Rotura del Cromosoma , Hibridación Genómica Comparativa , Femenino , Haplotipos/genética , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Immunoblotting , Hibridación in Situ , Discapacidad Intelectual/patología , Péptidos y Proteínas de Señalización Intracelular , Masculino , Ratones , Mutación/genética , Proteínas Nucleares , Linaje , Sinapsis/genética , Pez CebraRESUMEN
This paper summarizes the main achievements about the structure-activity relationships of anthocyanidin glycosylation. Anthocyanidin glycosylation is the essential step of anthocyanin biosynthesis and also the prerequisite of the further modifications of anthocyanins, which is jointly characterized by the glycosylation site, the type and number of the glycosyl as well as the glycosidic bond type. It generally enhances the stability, results in the hypsochromic effect and blueing, decreases the bioavailability and anticancer activity, and decreases, increases, or does not change the antioxidant activity of the anthocyanidins or anthocyanins, which is synergetically determined by the glycosylation site and the type and number of the glycosyl. Thereinto, in nature, the blue hues caused by the glycosylation may also be reinforced by the formation of the anthocyanic vacuolar inclusions. This review could provide a reference for the research of the structure-optimizing and function-exploiting of anthocyanins.
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Antocianinas/química , Antocianinas/metabolismo , Animales , Antocianinas/farmacocinética , Antocianinas/farmacología , Antineoplásicos/química , Antineoplásicos/metabolismo , Antineoplásicos/farmacocinética , Antineoplásicos/farmacología , Disponibilidad Biológica , Fenómenos Químicos , Glicosilación , Humanos , Relación Estructura-ActividadRESUMEN
PURPOSE: To investigate the role and mechanism of connexin 43ï¼Cx43ï¼in odontoblast differentiation of human dental pulp cells (hDPCs) induced by lipopolysaccharide (LPS). METHODS: The maxillary first molar injury model of SD rats was established. The expression pattern of Cx43 in dental pulp repair after injury was detected by immunofluorescence(IF) staining. hDPCs was respectively stimulated with 0, 1, 10, 100 and 1 000 ng/mL LPS for 6 h to screen the optimal concentration, and then the expression of Cx43 was inhibited and overexpressed in hDPCs. Quantitative real-time PCR(qRT-PCR) and Western blot(WB) were used to detect the expression of Cx43 and dentin sialophosphoprotein (DSPP), dental matrix protein-1 (DMP-1), osterix (Osx) and extracellular signal-regulated kinase (ERK) activity. Furthermore, hDPCs were treated with specific Cx43 channel inhibitors to investigate the effect of Cx43-mediated channel activity in odontoblast differentiation of hDPCs, and to explore the role and mechanism of Cx43 in regulating odontoblast differentiation of hDPCs induced by LPS. Statistical analysis was performed with SPSS 26.0 software package. RESULTS: IF results showed that Cx43 was mainly expressed in the odontoblast layer in healthy dental pulp tissues. At 3-24 h after tooth injury, the expression of Cx43 decreased and then gradually increased to the normal level; from 3 days to 2 weeks after injury, the expression of Cx43 tended to be down-regulated which was in the odontoblast layer and pulp proper. The expression of DSPP mRNA was significantly up-regulated in the hDPCs stimulated with 10 ng/mL LPS for 6 h(Pï¼0.01). Inhibition of Cx43 significantly up-regulated the expression of DSPP, DMP-1 and Osx mRNA induced by LPS in hDPCs(Pï¼0.05), while overexpression of Cx43 obviously inhibited the expression of factors related to LPS-induced odontoblast differentiation(Pï¼0.01) and the fluorescence intensity of DSPP. 10 ng/mL LPS activated ERK signal in hDPCs, and overexpression of Cx43 significantly attenuated the activity of ERK signal induced by LPS(Pï¼0.01). Inhibition of Cx43-mediated hemichannel (HC) promoted mRNA expression of factors related to odontoblast differentiation in hDPCs and the activity of ERK signal induced by LPS(Pï¼0.05), while blocking Cx43-mediated gap junction channel (GJC) inhibited odontoblast differentiation. CONCLUSIONS: Cx43 participates in the regulation of dental pulp repair after injury, and its expression shows a downward trend as a whole. Inhibition of Cx43 or blocking of HC promotes LPS-induced ERK signal activity and odontoblast differentiation of hDPCs.
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Conexina 43 , Lipopolisacáridos , Animales , Humanos , Ratas , Diferenciación Celular/fisiología , Células Cultivadas , Conexina 43/metabolismo , Pulpa Dental/metabolismo , Proteínas de la Matriz Extracelular/metabolismo , Lipopolisacáridos/farmacología , Lipopolisacáridos/metabolismo , Odontoblastos/metabolismo , Ratas Sprague-Dawley , ARN Mensajero/metabolismoRESUMEN
BACKGROUND: Mitochondrial dysfunction and metabolic reprogramming are key features of hepatocellular carcinoma (HCC). Despite its significance, the precise underlying mechanism behind these processes has not been fully elucidated. The latest investigations, along with our previous discoveries, have substantiated the significant role of mitochondrial ribosomal protein L12 (MRPL12), a newly identified gene involved in mitochondrial transcription regulation, in the modulation of mitochondrial metabolism. Nevertheless, the role of MRPL12 in tumorigenesis has yet to be investigated. METHODS: The expression of MRPL12 in HCC was assessed using an online database. Western blot, quantitative real-time polymerase chain reaction (qRT-PCR), and immunohistochemistry (IHC) were employed to determine the expression of MRPL12 in HCC tissues, patient-derived organoid (PDO), and cell lines. The correlation between MRPL12 expression and clinicopathological features, as well as prognosis, was examined using tissue microarray analysis. An in vivo subcutaneous tumor xenograft model, gene knockdown or overexpression assay, chromatin immunoprecipitation (ChIP) assay, Seahorse XF96 assay, and cell function assay were employed to investigate the biological function and potential molecular mechanism of MRPL12 in HCC. RESULTS: A significant upregulation of MRPL12 was observed in HCC cells, PDO and patient tissues, which correlated with advanced tumor stage, higher grade and poor prognosis. MRPL12 overexpression promoted cell proliferation, migration, and invasion in vitro, as well as tumorigenicity in vivo, whereas MRPL12 knockdown showed the opposite effect. MRPL12 knockdown also inhibited the capacity of organoids proliferation capacity. Furthermore, MRPL12 was found to be crucial for maintaining mitochondrial homeostasis. Both gain and loss-of-function experiments targeting MRPL12 in HCC cells altered oxidative phosphorylation (OXPHOS) and mitochondrial DNA content. Notably, suppression of OXPHOS effectively mitigates the tumor-promoting effect attributed to MRPL12 overexpression, implying the involvement of MRPL12 in HCC through the modulation of mitochondrial metabolism. Besides, Yin Yang 1 (YY1) was identified as a transcription factor responsible for regulating MRPL12, while the PI3K/mTOR pathway was found to act as an upstream regulator of YY1. MRPL12 knockdown attenuated the YY1 overexpression or PI3K/mTOR activation-induced malignant phenotype in HCC cells. CONCLUSION: Our findings provide compelling evidence that MRPL12 is implicated in driving the malignant phenotype of HCC via regulating mitochondrial metabolism. Moreover, the aberrant expression of MRPL12 in HCC is mediated by the upstream PI3K/mTOR/YY1 pathway. These results highlight the potential of targeting MRPL12 as a promising therapeutic strategy for the treatment of HCC.
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Carcinoma Hepatocelular , Neoplasias Hepáticas , Proteínas Ribosómicas , Humanos , Carcinoma Hepatocelular/metabolismo , Línea Celular Tumoral , Proliferación Celular , Regulación Neoplásica de la Expresión Génica , Neoplasias Hepáticas/metabolismo , Reprogramación Metabólica , Biogénesis de Organelos , Fosfatidilinositol 3-Quinasas/metabolismo , Serina-Treonina Quinasas TOR/metabolismoRESUMEN
To examine the effect of mixed-frequency excitation conditions on the hysteresis and loss characteristics of ferromagnetic materials, this paper shows how to construct magnetic property test equipment for electrical steel using Epstein's square circle. Experiments were carried out to assess the hysteresis and loss properties of oriented silicon steel wafers under mixed-frequency sinusoidal operating conditions with different occupancy ratios. It used heterodyne extraction to investigate the effect of different occupancy ratios of industry and magnetization frequency on the hysteresis and loss characteristics of oriented silicon steel sheets.
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Background: The genus of Polypedates Tschudi, 1838 currently comprises 25 recognised species with four of these species reported in Yunnan, China. Dubois (1987) speculated the distribution of P.teraiensis in China; however, there was no study carried out to confirm its distribution in the region. New information: We herein describe P.teraiensis as a new national record, based on a specimen collected from Yunnan border region. Phylogenetically, our sequence clustered with the sequences of recognised P.teraiensis specimens from Bangladesh, Myanmar and India. The uncorrected pairwise distances between the specimens from China and other P.teraiensis localities was small, ranging from 0.0-0.7%, based on 16S rRNA gene. Therefore, we report P.teraiensis as a new species record for China.
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INTRODUCTION: The aim was to develop and validate a nomogram for the prediction of brain metastases (BM) in small cell lung cancer (SCLC), to explore the risk factors and assist clinical decision-making. METHODS: We reviewed the clinical data of SCLC patients between 2015 and 2021. Patients between 2015 and 2019 were included to develop, whereas patients between 2020 and 2021 were used for external validation. Clinical indices were analysed by using the least absolute shrinkage and selection operator (LASSO) logistic regression analyses. The final nomogram was constructed and validated by bootstrap resampling. RESULTS: A total of 631 SCLC patients between 2015 and 2019 were included to construct model. Gender, T stage, N stage, Eastern Cooperative Oncology Group (ECOG), haemoglobin (HGB), the absolute value of lymphocyte (LYMPH #), platelet (PLT), retinol-binding protein (RBP), carcinoembryonic antigen (CEA) and neuron-specific enolase (NSE) were identified as risk factors and included into the model. The C-indices were 0.830 and 0.788 in the internal validation by 1000 bootstrap resamples. The calibration plot revealed excellent agreement between the predicted and the actual probability. Decision curve analysis (DCA) showed better net benefits with a wider range of threshold probability (net clinical benefit was 1%-58%). The model was further externally validated in patients between 2020 and 2021 with a C-index of 0.818. CONCLUSIONS: We developed and validated a nomogram to predict the risk of BM in SCLC patients, which could help clinicians to rationally schedule follow-ups and promptly implement interventions.
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Neoplasias Encefálicas , Neoplasias Pulmonares , Carcinoma Pulmonar de Células Pequeñas , Humanos , Plaquetas , NomogramasRESUMEN
Salinity stress (SS) is a serious abiotic stress and a major constraint to agricultural productivity across the globe. High SS negatively affects plant growth and yield by altering soil physio-chemical properties and plant physiological, biochemical, and molecular processes. The application of micronutrients is considered an important practice to mitigate the adverse effects of SS. Zinc (Zn) is an important nutrient that plays an imperative role in plant growth, and it could also help alleviate the effects of salt stress. Zn application improves seed germination, seedling growth, water uptake, plant water relations, nutrient uptake, and nutrient homeostasis, therefore improving plant performance and saline conditions. Zn application also protects the photosynthetic apparatus from salinity-induced oxidative stress and improves stomata movement, chlorophyll synthesis, carbon fixation, and osmolytes and hormone accumulation. Moreover, Zn application also increases the synthesis of secondary metabolites and the expression of stress responsive genes and stimulates antioxidant activities to counter the toxic effects of salt stress. Therefore, to better understand the role of Zn in plants under SS, we have discussed the various mechanisms by which Zn induces salinity tolerance in plants. We have also identified diverse research gaps that must be filled in future research programs. The present review article will fill the knowledge gaps on the role of Zn in mitigating salinity stress. This review will also help readers to learn more about the role of Zn and will provide new suggestions on how this knowledge can be used to develop salt tolerance in plants by using Zn.
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Zinc is an essential minor element for rice growth and human health, which can also change the structure of the microorganisms. However, it remains unclear for the effects of zinc fertilizer on microbiome function in agricultural soils and crops. To solve this research gap, we investigated the relationship between improving rice (Oryza sativa L.) yield, Zn concentration, soil microbial community diversity, and function by the application of Zn fertilizer. The field trials included three rice varieties (Huanghuazhan, Nanjing9108, and Nuodao-9925) and two soil Zn levels (0 and 30 kg ha-1) in Jiangsu province, China. As a test, we studied the variety of soil bacterial composition, diversity, and function using 16S rRNA gene sequencing. The results showed that soil Zn application reduced the diversity of microbial community, but the bacterial network was more closely linked, and the metabolic function of bacterial community was improved, which increased the grain yield (17.34-19.52%) and enriched the Zn content of polished rice (1.40-20.05%). Specifically, redundancy analysis (RDA) and Mantel's test results revealed soil total nitrogen (TN) was the primary driver that led to a community shift in the rice rhizosphere bacterial community, and soil organic carbon (SOC) was considered to have a strong influence on dominant phyla. Furthermore, network analysis indicated the most critical bacterial taxa were identified as Actinobacteria, Bacteroidetes, Proteobacteria, and Chloroflexi based on their topological roles of microorganisms. KEGG metabolic pathway prediction demonstrated that soil Zn application significantly (p < 0.05) improved lipid metabolism, amino acid metabolism, carbohydrate metabolism, and xenobiotic biodegradation. Overall, their positive effects were different among rice varieties, of which Nanjing-9108 (NJ9108) performed better. This study opens new avenues to deeply understand the plant and soil-microbe interactions by the application of fertilizer and further navigates the development of Zn-rich rice cultivation strategies.