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Whereas thermal comfort and healthcare management during long-term wear are essentially required for wearable system, simultaneously achieving them remains challenge. Herein, a highly comfortable and breathable smart textile for personal healthcare and thermal management is developed, via assembling stimuli-responsive core-sheath dual network that silver nanowires(AgNWs) core interlocked graphene sheath induced by MXene. Small MXene nanosheets with abundant groups is proposed as a novel "dispersant" to graphene according to "like dissolves like" theory, while simultaneously acting as "cross-linker" between AgNWs and graphene networks by filling the voids between them. The core-sheath heterogeneous interlocked conductive fiber induced by MXene "cross-linking" exhibits a reliable response to various mechanical/electrical/light stimuli, even under large mechanical deformations(100%). The core-sheath conductive fiber-enabled smart textile can adapt to movements of human body seamlessly, and convert these mechanical deformations into character signals for accurate healthcare monitoring with rapid response(440 ms). Moreover, smart textile with excellent Joule heating and photothermal effect exhibits instant thermal energy harvesting/storage during the stimuli-response process, which can be developed as self-powered thermal management and dynamic camouflage when integrated with phase change and thermochromic layer. The smart fibers/textiles with core-sheath heterogeneous interlocked structures hold great promise in personalized healthcare and thermal management.
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Conductividad Eléctrica , Textiles , Humanos , Nanocables/química , Plata/química , Medicina de Precisión/métodos , Dispositivos Electrónicos Vestibles , Temperatura , Grafito/químicaRESUMEN
Due to their highly exposed active sites and high aspect ratio caused by their substantial lateral dimension and thin thickness, two-dimensional (2D) metal-organic framework (MOF) nanosheets are currently considered a potential hybrid material for electrochemical sensing. Herein, we present a nickel-based porphyrinic MOF nanosheet as a versatile and robust platform with an enhanced electrochemical detection performance. It is important to note that the nickel porphyrin ligand reacted with Cu(NO3)2·3H2O in a solvothermal process, with polyvinylpyrrolidone (PVP) acting as the surfactant to control the anisotropic development of creating a 2D Cu-TCPP(Ni) MOF nanosheet structure. To realize the exceptional selectivity, sensitivity, and stability of the synthesized 2D Cu-TCPP(Ni) MOF nanosheet, a laser-induced graphene electrode was modified with the MOF nanosheet and employed as a sensor for the detection of p-nitrophenol (p-NP). With a detection range of 0.5-200 µM for differential pulse voltammetry (DPV) and 0.9-300 µM for cyclic voltammetry (CV), the proposed sensor demonstrated enhanced electrochemical performance, with the limit of detection (LOD) for DPV and CV as 0.1 and 0.3 µM, respectively. The outstanding outcome of the sensor is attributed to the 2D Cu-TCPP(Ni) MOF nanosheet's substantial active surface area, innate catalytic activity, and superior adsorption capacity. Furthermore, it is anticipated that the proposed electrode sensor will make it possible to create high-performance electrochemical sensors for environmental point-of-care testing since it successfully detected p-NP in real sample analysis.
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Visual interaction is a promising strategy for the externalized expression and transmission of information, having wide application prospects in wearable luminous textiles. Achieving an autonomous luminous display and dynamic light response to environmental stimuli is attractive but attracts little attention. Herein, we propose a liquid responsive structure based on alternating-current electroluminescent fibers and demonstrate conductive-liquid-bridging electroluminescent fabrics with high integration and personalized patterns. Impressively, our electroluminescent fibers and textiles could afford a sensitive response and high robustness to water, glycerol, ethanol, and sodium chloride solution. The final electroluminescent textiles show an excellent luminescence performance of 149.08 cd m-2. On the proof of concept, a rain-sensing umbrella, luminous sportswear, and liquid response glove are fabricated to demonstrate water detection, visual interaction, and environmental warning. The textile-type visualizing-responding strategy proposed in this work may open up new avenues for the application of ACEL devices in the field of visual interaction.
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OBJECTIVES: To investigate the clinical phenotypes and genotypes of children with congenital fibrinogen disorder (CFD). METHODS: A retrospective analysis was conducted on the clinical data of 16 children with CFD. Polymerase chain reaction was used to amplify all exons and flanking sequences of the FGA, FGB, and FGG genes, and sequencing was performed to analyze mutation characteristics. RESULTS: Among the 16 children, there were 9 boys (56%) and 7 girls (44%), with a median age of 4 years at the time of attending the hospital. Among these children, 9 (56%) attended the hospital due to bleeding events, and 7 (44%) were diagnosed based on preoperative examination. The children with bleeding events had a significantly lower fibrinogen activity than those without bleeding events (P<0.05). Genetic testing was conducted on 12 children and revealed a total of 12 mutations, among which there were 4 novel mutations, i.e., c.80T>C and c.1368delC in the FGA gene and c.1007T>A and C.1053C>A in the FGG gene. There were 2 cases of congenital afibrinogenemia caused by null mutations of the FGA gene, with relatively severe bleeding symptoms. There were 7 cases of congenital dysfibrinogenemia mainly caused by heterozygous missense mutations of the FGG and FGA genes, and their clinical phenotypes ranged from asymptomatic phenotype to varying degrees of bleeding. CONCLUSIONS: The clinical phenotypes of children with CFD are heterogeneous, and the severity of bleeding is associated with the level of fibrinogen activity, but there is a weak association between clinical phenotype and genotype.
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Afibrinogenemia , Fibrinógeno , Genotipo , Mutación , Fenotipo , Humanos , Masculino , Femenino , Afibrinogenemia/genética , Preescolar , Niño , Fibrinógeno/genética , Lactante , Estudios Retrospectivos , Adolescente , Hemorragia/genética , Hemorragia/etiologíaRESUMEN
To uncover the biological role of lncRNA DCST1-AS1 in the process of pediatric AML and its regulatory effect on p53 methylation. Serum level of DCST1-AS1 in AML children and healthy participants was detected by qRT-PCR. The role of DCST1-AS1 in mediating biological functions of AML193 and U937 cells was assessed by functional experiments. p53 methylation level was examined. Through BSP, MSP and dual-luciferase reporter assay, the regulatory effect of DCST1-AS1 on p53 methylation was explored. The correlation between DCST1-AS1 and p53 in the serum of AML children was assessed. Serum level of DCST1-AS1 was higher in AML children than in healthy subjects. Knockdown of DCST1-AS1 decreased proliferative and migratory rates in AML193 and U937 cells. DCST1-AS1 was able to induce methylation of p53 promoter. P53 was markedly upregulated by the knockdown of DCST1-AS1, presenting a negative correlation. LncRNA DCST1-AS1 drives the malignant progression of pediatric AML through inducing methylation of the p53 promoter.
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Leucemia Mieloide Aguda , MicroARNs , ARN Largo no Codificante , Niño , Humanos , Proliferación Celular/genética , Leucemia Mieloide Aguda/genética , MicroARNs/genética , ARN Largo no Codificante/genética , ARN Largo no Codificante/metabolismo , Proteína p53 Supresora de Tumor/genética , Proteína p53 Supresora de Tumor/metabolismo , Metilación de ADN/genéticaRESUMEN
Flexible transparent electrodes demand high transparency, low sheet resistance, as well as excellent mechanical flexibility simultaneously, however they still remain to be a great challenge due to"trade-off" effect. Herein, inspired by a hollow interconnected leaf vein, we developed robust transparent conductive mesh with biomimetic interwoven structure via hierarchically self-assembles silver nanowires interwoven metal carbide/nitride (MXene) sheets along directional microfibers. Strong interfacial interactions between plant fibers and conductive units facilitate hierarchically interwoven conductive mesh constructed orderly on flexible and lightweight veins while maintaining high transparency, effectively avoiding the trade-off effect between optoelectronic properties. The flexible transparent electrodes exhibit sheet resistance of 0.5 Ω sq-1 and transparency of 81.6%, with a remarkably high figure of merit of 3523. In addition, invisible camouflage sensors are further successfully developed as a proof of concept that could monitor human body motion signals in an imperceptible state. The flexible transparent conductive mesh holds great potential in high-performance wearable optoelectronics and camouflage electronics.
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Nanocables , Biomimética , Electrodos , Electrónica , Humanos , Nanocables/química , Plata/químicaRESUMEN
Organic pollutants (OPs) have garnered a considerable amount of attention in recent times due to their extreme toxicity toward humans and the ecosystem. The need for an inexpensive yet robust, sensitive, selective, and easy-to-operate method for detecting OPs remains a challenge. Herein, a portable electrochemical sensor is proposed based on manganese porphyrin-functionalized carbon cloth (CC). To explain the electrochemical performance of the sensor, cyclic voltammetry (CV) and differential pulse voltammetry (DPV) were employed. The presence of manganese(III) ion in the center of the porphyrin ligand acted as an agent for the transfer of electrons and enhanced sensitivity toward analyte-specific redox catalysis. Moreover, it allowed for the concurrent detection of multiple analytes in a complex environment. The modified CC electrode can selectively detect nitroaromatic and phenolic compounds with accessible data collected through wireless means onto a smartphone device. The as-synthesized electrode demonstrated a higher sensitivity toward the detection of nitrobenzene (NB) and aqueous phenol with a limit of detection (LOD) found to be 5.9268 × 10-10 M and 4.0178 × 10-10 M, respectively. Additionally, our proposed portable electrochemical sensor demonstrates a high selectivity and reproducibility toward nitroaromatic and phenolic compounds, which can be employed in real complex water samples. With regard to the sensor's remarkable electrochemical performance, it is envisaged that such a sensor could pave the way for environmental point of care (POC) testing.
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Contaminantes Ambientales , Porfirinas , Carbono , Ecosistema , Técnicas Electroquímicas , Electrodos , Gases , Humanos , Ligandos , Manganeso , Nitrobencenos , Fenol , Fenoles , Reproducibilidad de los Resultados , AguaRESUMEN
A magnetic zirconium hexacyanoferrate-based Prussian blue analog (MB@ZrHCF) nanozyme was synthesized using dopamine (DA) reduction-assisted method and employed for colorimetric PO43- sensing. The MB@ZrHCF exhibits enhanced peroxidase-mimicking activity and ultrafast catalytic rate via the color reaction of 3,3',5,5'-tetramethylbenzidine (TMB) oxidized by hydrogen peroxide (H2O2). The catalytic reaction mechanism of MB@ZrHCF catalyzing H2O2 to produce hydroxyl radical (âOH) was studied. Then, MB@ZrHCF was successfully applied to the detection of H2O2. Additionally, the catalytic activity of the nanocomposite is inhibited due to the steric hindrance effect from the coordination of PO43- and Zr(IV) node. Based on this, the MB@ZrHCF nanozyme can be used to detect PO43- in two linear ranges (10-100 µM and 100-200 µM) with a limit of detection of 2.25 µM. The proposed colorimetric sensor possesses excellent selectivity and reliability for PO43- sensing, which can be successfully applied to detect PO43- in sea and tap water samples.
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Colorimetría , Peroxidasa , Colorimetría/métodos , Colorantes , Ferrocianuros , Peróxido de Hidrógeno , Fenómenos Magnéticos , Peroxidasas , Fosfatos , Reproducibilidad de los Resultados , CirconioRESUMEN
Photothermal bimorph actuators have attracted considerable attention in intelligent devices because of their cordless control and lightweight and easy preparation. However, current photothermal bimorph actuators are mostly based on films or papers driven by near-infrared sources, which are deficient in flexibility and adaptability, restricting their potential in wearable applications. Herein, a bimorph textile actuator that can be scalably fabricated with a traditional textile route and autonomously triggered by sunlight is reported. The active layer and passive layer of the bimorph are constructed by polypropylene tape and a MXene-modified polyamide filament. Because of the opposite thermal expansion and MXene-enhanced photothermal efficiency (>260%) of the bimorph, the textile actuator presents effective deformation (1.38 cm-1) under low sunlight power (100 mW/cm2). This work provides a new pathway for wearable sunlight-triggered actuators and finds attractive applications for smart textiles.
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Dispositivos Electrónicos Vestibles , Nylons , Polipropilenos , Luz Solar , TextilesRESUMEN
Most of the current sensors cannot meet the needs for seamless integration into the textile substrates of smart clothing and require improvements in terms of comfort and durability. Herein, smart textile-based sensors that have different sensing properties with integrated electronic elements were fabricated by knitting graphene-based helical conductive core-spun yarns. Such graphene-modified core-spun yarns are employed as building blocks of textile strain sensors, which showed high elasticity (ε > 300%), fast response time (120 ms), excellent reproducibility (over 10â¯000 cycles), wide sensing range (up to 100% strain), and low detection limit (0.3% strain). Thus, resistance-type strain sensors and capacitance-type pressure sensors composed of graphene-based smart fabric could be used to monitor large-scale limb movement and subtle human physiological signals. Such seamless smart textile-based fabric composed of superelastic helical conductive core-spun yarns shows great potential for fabricating an intelligent device to achieve real-time precise medicine and healthcare.
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Flexible touch-sensing devices have attracted extensive attention in wearable electronics and human-machine interaction. The ionic touch-sensing hydrogels are ideal candidates for these scenarios, but the absorbed water evaporates easily from the hydrogel, reducing their working time and stability. Herein, we propose a touch-sensing fabric system composed of non-woven cellulose fabrics as a sheath shell layer encapsulated with a hydrogel filling layer. The resultant touch-sensing fabric has a super-thin structure (1 mm) and exhibits a low detecting threshold (50 Pa), high durability (100k times), strain/pressure insensitivity and extremely high touch positioning accuracy. In the proof of concept, a smart touch-sensing glove is equipped with our fabric, which can execute human-computer interaction as a flexible touch-sensing device.
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Tacto , Dispositivos Electrónicos Vestibles , Computadores , Humanos , Hidrogeles , TextilesRESUMEN
Wiskott-Aldrich syndrome (WAS) and osteopetrosis are 2 different, rare hereditary diseases. Here we report clinical and molecular genetics investigations on an infant patient with persistent thrombocytopenia and prolonged fever. He was clinical diagnosed as osteopetrosis according to clinical presentation, radiologic skeletal features, and bone biopsy results. Gene sequencing demonstrated a de novo homozygous mutation in 5'-untranslated region of TNFRSF11A, c.-45A>G, which is relating to osteopetrosis. Meanwhile, a hemizygous transition mutation in WAS gene, c.400G>A diagnosed the infant with WAS. This is the first clinical report for the diagnosis of osteopetrosis coinheritance with WAS in a single patient.
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Regiones no Traducidas 5' , Predisposición Genética a la Enfermedad , Homocigoto , Mutación , Osteopetrosis/diagnóstico , Receptor Activador del Factor Nuclear kappa-B/genética , Síndrome de Wiskott-Aldrich/diagnóstico , Humanos , Lactante , Masculino , Osteopetrosis/complicaciones , Osteopetrosis/genética , Pronóstico , Síndrome de Wiskott-Aldrich/complicaciones , Síndrome de Wiskott-Aldrich/genéticaRESUMEN
We propose a novel competitive mechanism involving the dissolved oxygen (O2) between zirconium-based porphyrinic metal-organic framework nanoparticles (NMOFs) and luminol into a ratiometric electrochemiluminescence (ECL) biosensing interface. Zinc tetrakis(carboxyphenyl)-porphyrin (ZnTCPP) in NMOFs as electron media reduce O2 into reactive oxygen species (ROS) and produce singlet oxygen (1O2), resulting in cathodic ECL. Meanwhile, ROS also react with the luminol anion radical and amplify the anodic ECL emission. Based on the competitive-mechanism-driven ECL process, taking the detection of polynucleotide kinase (PNK) as example, with assembling DNA-functionalized NMOFs on the sensing interface, a lower detection limit of 6.5 × 10-5 U mL-1 and broader linear relationship range from 0.0002 to 10 U mL-1 were obtained compared with that of single-signal-driven ECL sensors. This proposed MOFs-luminol competitive ECL mechanism involving dissolved O2 may provide a new pathway for further research of a green and highly sensitive ECL biosensing system.
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Estructuras Metalorgánicas/química , Polinucleótido 5'-Hidroxil-Quinasa/análisis , Técnicas Biosensibles , Técnicas Electroquímicas , Inhibidores Enzimáticos/farmacología , Células HeLa , Humanos , Mediciones Luminiscentes , Luminol , Estructuras Metalorgánicas/síntesis química , Metaloporfirinas , Estructura Molecular , Nanopartículas/química , Tamaño de la Partícula , Polinucleótido 5'-Hidroxil-Quinasa/antagonistas & inhibidores , Polinucleótido 5'-Hidroxil-Quinasa/metabolismo , Propiedades de Superficie , CirconioRESUMEN
Stretchable electrical conductors have demonstrated promising potentials in a wide range of wearable electronic devices, but the conductivity of most reported stretchable conductive fibers will be changed if be stretched or strained. Stable conductance is essential for wearable and stretchable devices, to ensure the performance is stable. Inspired by the peristaltic behavior of arthropods, we designed a graphene coating similar to the caterpillar structure on the polyurethane (PU) fiber surface, enabled by coating the worm-shaped graphene microlayer onto polyurethane filaments. Such worm-shaped filaments can be stretched up to 1010% with a wide reversible electroresponse range (0 < ε < 815%), long-term durability (>4000 stretching/releasing cycles), good initial conductivity (σ0 = 124 S m-1), and high quality factor (Q = 11.26). Remarkably, the worm-shaped filaments show distinctive strain-insensitive behavior (ΔR/R0 < 0.1) up to 220% strain. Furthermore, the filaments as electrical circuits of light emitting diodes (LEDs) to track signals from robust human joint movements are also demonstrated for practical application. Such worm-shaped filaments with distinctive strain-insensitive behavior provide a direct pathway for stretchy electronics.
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Conductividad Eléctrica , Grafito/química , Nanotubos de Carbono/química , Dispositivos Electrónicos Vestibles , HumanosRESUMEN
The recurrence and metastasis is one of the major reasons for malignant tumor treatment failure. Melatonin, a naturally occuring hormone, could reduce the recurrence and metastasis of various tumors. However, the underlying molecular mechanisms of melatonin on tumor metastasis inhibition have not been fully elucidated. In the present study, we explored the impact of melatonin on the migratory capability of human gastric carcinoma cells using wound healing assay, and further investigated if the inhibition on migration ability of melatonin was embodied by relocating tight junction proteins zo-1 and occludin onto the cells surface to remodel tight junction structure. Immunofluorescence assay and Western blot analysis were performed to detect the expression and cell location of the tight junction proteins. The migration distance was decreased as the cells were treated with melatonin. And melatonin increased the membrane location of tight junction proteins, zo-1 and occludin, showed by immunofluorescence staining and Western blot analysis. The results we got show that melatonin makes tight junction proteins anchored more on the cells membrane to remodel cells tight junction, which increase cells adhesion and decrease motility, resulting in the inhibition of gastric cancer cells migration and metastasis ability.
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Movimiento Celular/efectos de los fármacos , Melatonina/farmacología , Neoplasias Gástricas/metabolismo , Uniones Estrechas/metabolismo , Línea Celular Tumoral , Humanos , Neoplasias Gástricas/patología , Uniones Estrechas/patologíaRESUMEN
BACKGROUND/AIMS: Circular RNAs (circRNAs) are a class of non-coding RNAs. They have been proved to be critically involved in tumorigenesis and progression of malignancies through competing endogenous RNA (ceRNA) mechanism. Nevertheless, the exploration between circRNAs and pathogenesis of breast cancer (BC) is limited. Previously, circ_0005230 was identified upregulated in BC tissues screened by circRNA microarray. In the present study, we aimed to investigate the expression pattern, functional role, and mechanism of circ_0005230 in BC. METHODS: qRT-PCR was conducted to elucidate the expression levels of circ_0005230 in BC tissues and cells. Additionally, the clinical severity and prognostic value were investigated. CCK-8, colony-forming, flow cytometric assays were performed. Animal study was conducted to validate the in vitro data. What's more, Transwell assays were induced to detect the cell metastatic properties of circ_0005230 exerts in BC cells. Luciferase reporter assay was used to measure the mechanism of circ_0005230. RESULTS: circ_0005230 was overexpressed in BC tissue specimens and cell lines. The overexpression of circ_0005230 was related to adverse phenotypes in the patients with BC. In addition, circ_0005230 could be regarded as a prognostic predictor in BC patients. In vitro and in vivo data demonstrated the cell growth promoting role of circ_0005230. Moreover, circ_0005230 could also promote cell migratory and invasive capacities. For the mechanism investigation, circ_0005230 was proved to be a sponge of miR-618, and expression of miR-618 could regulate CBX8 expression via targeting the 3'UTR of CBX8. Rescue assays also illustrated an oncogenic function of circ_0005230 in BC via acting as a miR-618 sponge to promote CBX8 expression. CONCLUSION: circ_0005230/miR-618/CBX8 axis might play a key role in BC tumorigenesis and development.
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Neoplasias de la Mama/genética , Regulación Neoplásica de la Expresión Génica , MicroARNs/genética , Invasividad Neoplásica/genética , Complejo Represivo Polycomb 1/genética , ARN/genética , Regulación hacia Arriba , Animales , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/patología , Carcinogénesis/genética , Carcinogénesis/patología , Línea Celular Tumoral , Proliferación Celular , Progresión de la Enfermedad , Femenino , Humanos , Ratones Desnudos , Invasividad Neoplásica/diagnóstico , Invasividad Neoplásica/patología , Pronóstico , ARN CircularRESUMEN
Cholangiocarcinoma (CCA) is one of the most aggressive malignancies with increasing worldwide incidence and is characterized by unfavorable prognosis due to its early invasive characteristics and poor response to chemotherapy or radiotherapy. Accumulating evidence has indicated that aberrantly expressed circular RNAs (circRNAs) are involved in cancer development and progression. However, their clinical values and biological roles in CCA remain unclear. Hsa_circ_0001649, a novel cancer-related circRNA, has been previously reported to be downregulated in hepatocellular carcinoma and gastric cancer. In the present study, qRT-PCR was carried out to measure the expression of hsa_circ_0001649 in CCA tissue samples and cell lines, and the correlation between hsa_circ_0001649 expression and clinicopathologic features was analyzed. The biological functions of hsa_circ_0001649 in CCA cells were evaluated both in vitro and in vivo. As a result, hsa_circ_0001649 was aberrantly downregulated in CCA tissues and cells, and this downregulation was associated with tumor size and differentiation grade in CCA. In addition, hsa_circ_0001649 overexpression caused tumor suppressive effects via inhibiting cell proliferation, migration and invasion; inducing cell apoptosis in KMBC and Huh-28â¯cells. On the contrary, silencing of hsa_circ_0001649 caused the opposite phenotypes. Furthermore, tumor xenograft study confirmed the in vitro results. Collectively, our findings suggest that hsa_circ_0001649 might be a rational CCA-related therapeutic target.
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Neoplasias de los Conductos Biliares/genética , Conductos Biliares Intrahepáticos/metabolismo , Colangiocarcinoma/genética , Regulación Neoplásica de la Expresión Génica , ARN/genética , Adulto , Anciano , Animales , Neoplasias de los Conductos Biliares/metabolismo , Neoplasias de los Conductos Biliares/patología , Neoplasias de los Conductos Biliares/cirugía , Conductos Biliares Intrahepáticos/patología , Conductos Biliares Intrahepáticos/cirugía , Línea Celular Tumoral , Movimiento Celular , Proliferación Celular , Colangiocarcinoma/metabolismo , Colangiocarcinoma/patología , Colangiocarcinoma/cirugía , Regulación hacia Abajo , Femenino , Humanos , Masculino , Ratones Endogámicos C57BL , Ratones Desnudos , Persona de Mediana Edad , Clasificación del Tumor , Invasividad Neoplásica , Estadificación de Neoplasias , Trasplante de Neoplasias , ARN/metabolismo , ARN CircularRESUMEN
Water pollution is one of the most pervasive problems afflicting people. Therefore, seeking highly efficient, low-cost methods to decontaminate water is very much in demand. In this paper, chitosan/polyvinyl-alcohol composite sponges are synthesized via foamed cross-linking method while incorporating different amount of graphene oxide, the resultant graphene oxide/chitosan/polyvinyl-alcohol composite sponges (GCS) are characterized by scanning electron microscopy (SEM), transmission electron microscopy (TEM), and Fourier transform infrared (FTIR), indicating the reasonable dispersion of graphene oxide in the matrix. Furthermore, some physical properties (water absorption, water retention, apparent density, porosity) are also determined; water absorption is high up to 873%, apparent density is lower than 0.25 g/cm3, and porosity could reach 78%. The GCSs also manifest high adsorption ability, as effective adsorbent for Acid Red 37 (AR 37) solution. The relationship between adsorption capacity and independent variables (adsorbent mass, initial dye concentration, and contacting time) is obtained. The optimal adsorption capacity value of AR 37 on GCS could reach 421.5 mg/g.
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Quitosano/química , Grafito/química , Alcohol Polivinílico/química , Contaminantes Químicos del Agua/química , Adsorción , Colorantes , Microscopía Electrónica de Rastreo , Eliminación de Residuos Líquidos/métodos , Purificación del AguaRESUMEN
OBJECTIVE: To detect potential mutation of the TCIRG1 gene in a boy with infantile malignant osteopetrosis. METHODS: Target sequence capture and next-generation sequencing were applied for the proband and his parents to identify the causative mutation, and Sanger sequencing was used to verify the suspected mutation. RESULTS: The proband manifested at 4 months of age with symptoms including anemia, thrombocytopenia, hepatosplenomegaly, and cephalus quadratus. X-ray revealed generalized increased bone density. A novel compound heterozygous mutation, c.796G to T (p.E266X) and c.1372G to A (p.G458S), were identified in the boy. His father and grandmother also carried the c.796G to T (p.E266X) mutation, and his mother carried the c.1372G to A (p.G458S) mutation. Neither mutation was found in the PubMed and ClinVar databases. CONCLUSION: The novel compound heterozygous mutation c.796G to T (p.E266X) and c.1372G to A (p.G458S) probably underlies the disease in the proband. Above results may enrich the mutation spectrum of the TCIRG1 gene and provide new evidence for the molecular basis of infantile malignant osteopetrosis.
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Enfermedades del Recién Nacido/genética , Osteopetrosis/genética , ATPasas de Translocación de Protón Vacuolares/genética , Adulto , Pueblo Asiatico , Secuencia de Bases , Humanos , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Datos de Secuencia Molecular , Mutación , LinajeRESUMEN
Graphene oxide has been used as an adsorbent in wastewater treatment. However, the hydrophily and dispersibility in aqueous solution limit its practical application in environmental protection. In this paper, a novel, environmentally friendly adsorbent, chitosan and chitosan-graphene oxide aerogels with a diverse shape, large specific surface area, and unique porous structure were prepared by a freeze-drying method. The structure of the adsorbents was investigated using scanning electron microscopy, Fourier transform-infrared spectroscopy, and X-ray diffraction (XRD); the specific surface area and swelling capability were also characterized. In addition, removal of diesel oil from seawater by chitosan aerogel (CSAG) and chitosan-graphene oxide aerogel (AGGO-1 and AGGO-2) was studied and batch adsorption experiments were carried out as a function of different adsorbent dosages (0-6 g), contact time (0-120 minutes), pH (3-9), and initial concentrations of oil residue (3-30 g/L) to determine the optimum condition for the adsorption of residue oil from seawater. The results showed that the chitosan-graphene oxide aerogels were more effective to remove diesel oil from seawater compared with pure chitosan aerogel. A removal efficiency ≥ 95% of the chitosan-graphene oxide aerogels could be achieved easily at the initial concentrations of 20 g/L, which indicated that the chitosan-graphene oxide aerogels can be used to treat the industrial oil leakage or effluent in the natural water.