Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 70
Filtrar
Más filtros

Banco de datos
Tipo del documento
Intervalo de año de publicación
1.
Exp Cell Res ; 433(1): 113804, 2023 Oct 06.
Artículo en Inglés | MEDLINE | ID: mdl-37806378

RESUMEN

Alcohol dehydrogenase 1 (ADH1) is an alcohol-oxidizing enzyme with poorlydefined biology. Here we report that ADH1 is highly expressed in kidneys of mice with lethal endotoxemia and is transcriptionally upregulated in tubular cells by lipopolysaccharide (LPS) stimuli through TLR4/NF-κB cascade. The Adh1 knockout (Adh1KO) mice with lethal endotoxemia displayed increased susceptibility to acute kidney injury (AKI) but not systemic inflammatory response. Adh1KO mice develop more severe tubular cell apoptosis in comparison to Adh1 wild-type (Adh1WT) mice during course of lethal endotoxemia. ADH1 deficiency facilitates the LPS-induced tubular cell apoptosis in a caspase-dependent manner. Mechanistically, ADH1 deficiency dampens tubular mitophagy that relies on PINK1-Parkin pathway characterized by the reduced membrane potential, reactive oxygen species (ROS) and release of fragmented mtDNA to cytosol. Kidney-specific overexpression of PINK1 and Parkin by adeno-associated viral vector 9 (AAV9) delivery ameliorates AKI exacerbation in Adh1KO mice with lethal endotoxemia. Our study supports the notion that ADH1 is critical for blockade of tubular apoptosis mediated by mitophagy, allowing the rapid identification and targeting of alcohol-metabolic route applicable to septic AKI.

2.
BMC Infect Dis ; 23(1): 709, 2023 Oct 20.
Artículo en Inglés | MEDLINE | ID: mdl-37864200

RESUMEN

BACKGROUND: The rapid global emergence and spread of carbapenem-resistant Gram-negative bacilli (CR-GNB) is recognized as a major public health concern, and there are currently few effective treatments for CR-GNB infection. The aim of this study was to investigate the clinical characteristics and outcomes of patients with CR-GNB infections treated with ceftazidime/avibactam (CAZ/AVI) combined with colistin from October 2019 to February 2023 in China. METHODS: A total of 31 patients with CR-GNB infections were retrospectively identified using the electronic medical record system of Zhejiang Provincial People's Hospital. RESULTS: Thirty-one patients were treated with CAZ/AVI combined with colistin. Respiratory tract infections (87%) were most common. The common drug-resistant bacteria encompass Klebsiella pneumonia (54.8%), Acinetobacter baumannii (29.0%), and Pseudomonas aeruginosa (16.1%). The 30-day mortality rate was 29.0%, and the 7-day microbial clearance rate was 64.5%. The inflammatory marker CRP changes, but not PCT and WBC, were statistically significant on days 7 and 14 after combination therapy. There were seven patients developing acute renal injury (AKI) after combination therapy and treating with continuous renal replacement therapy (CRRT). Two patients developed diarrhea. CONCLUSION: The combination of CAZ/AVI and colistin has potential efficacy in patients with CR-GNB infection, but more studies are needed to determine whether it can reduce 30-day mortality rates and increase 7-day microbial clearance. At the same time, the adverse reactions of combination therapy should not be ignored.


Asunto(s)
Ceftazidima , Colistina , Humanos , Ceftazidima/uso terapéutico , Ceftazidima/farmacología , Colistina/uso terapéutico , Colistina/farmacología , Carbapenémicos/uso terapéutico , Carbapenémicos/farmacología , Antibacterianos/uso terapéutico , Antibacterianos/farmacología , Estudios Retrospectivos , Bacterias Gramnegativas
3.
Biomacromolecules ; 23(4): 1633-1642, 2022 04 11.
Artículo en Inglés | MEDLINE | ID: mdl-35352926

RESUMEN

The elastic tensors of chitin and chitosan allomorphs were calculated using density functional theory (DFT) with and without the dispersion correction and compared with experimental values. The longitudinal Young's moduli were 114.9 or 126.9 GPa for α-chitin depending on the hydrogen bond pattern: 129.0 GPa for ß-chitin and 191.5 GPa for chitosan. Furthermore, the moduli were found to vary between 17.0 and 52.8 GPa in the transverse directions and between 2.2 and 15.2 GPa in shear. Switching off the dispersion correction led to a decrease in modulus by up to 63%, depending on the direction. The transverse Young's moduli of α-chitin strongly depended on the hydroxylmethyl group conformation coupled with the dispersion correction, suggesting a synergy between hydrogen bonding and dispersion interactions. The calculated longitudinal Young's moduli were, in general, higher than experimental values obtained in static conditions, and the Poisson's ratios were lower than experimental values obtained in static conditions.


Asunto(s)
Quitina/química , Quitosano , Anisotropía , Módulo de Elasticidad , Enlace de Hidrógeno
4.
Nanotechnology ; 33(18)2022 Feb 10.
Artículo en Inglés | MEDLINE | ID: mdl-35078161

RESUMEN

At present, carbon materials derived from biomass precursors have many limitations in the field of energy storage. In this study, boron and nitrogen (B/N) co-doped carbon nanospheres are successfully prepared by emulsion crosslinking method using chitosan and boric acid as raw materials. After carbonization at high temperature, the carbon nanospheres can be facilely prepared with controllable particle size, showing excellent structural stability and sphericity. In addition, the heteroatoms co-doping endows the carbon nanospheres with large specific surface area, high graphitization degree and excellent electrochemical performance. Applying the carbon nanospheres for supercapacitors, the specific capacitance can reach up to 336.7 F g-1at a current density of 1 A g-1. Even after 10,000 cycles, the Coulomb efficiency and specific capacitance still remain at 98.61% and 96.8%, respectively, demonstrating the great promise of B/N co-doped carbon nanospheres for the state-of-the-art supercapacitor electrodes applications.

5.
BMC Infect Dis ; 22(1): 771, 2022 Oct 04.
Artículo en Inglés | MEDLINE | ID: mdl-36195855

RESUMEN

BACKGROUND AND OBJECTIVES: Bloodstream infection (BSI) is a life-threatening condition in critically ill patients, but pathogen quantification techniques during treatment are laborious. This study aimed to explore the impact of monitoring pathogen DNA load changes and polymicrobial infection in blood by droplet digital polymerase chain reaction (ddPCR) on the prognosis of patients with BSIs. METHODS: This prospective case series study was conducted in the general intensive care unit of the Zhejiang Provincial People's Hospital and included patients with BSIs from May 2020 to January 2021. Pathogens DNA load and presence of polymicrobial BSIs were dynamically monitored by ddPCR. RESULTS: Sixteen patients with BSIs proven by blood culture were recruited (87.5% men; mean age, 69.3 ± 13.7 years). All pathogens identified by blood culture were Gram-negative bacteria, among which seven were multidrug-resistant strains. The 28-day mortality rate was 62.5%. Compared to the 28-day survivors, the non-survivors were older (P = 0.04), had higher pathogen DNA load on the second (day 3-4) and third (day 6-7) ddPCR assay (P < 0.01 in both cases). In addition, the changes of pathogen DNA load in the 28-day survivors had a downward trend in the first three ddPCR assay, whereas stable load or an upward trend was observed in the 28-day non-survivors. Moreover, the number of pathogen species in patients with BSIs in the 28-day survivors decreased during the period of effective antibiotic treatment. CONCLUSION: The changes of pathogen DNA load and species monitored in blood by ddPCR may be used to determine antibiotic efficacy and make a more accurate prognostic assessment in patients with BSIs.


Asunto(s)
Bacteriemia , Sepsis , Anciano , Anciano de 80 o más Años , Antibacterianos/uso terapéutico , Bacteriemia/diagnóstico , Bacteriemia/tratamiento farmacológico , Bacteriemia/microbiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa/métodos , Estudios Prospectivos , Sepsis/tratamiento farmacológico
6.
Neuroimage ; 237: 118169, 2021 08 15.
Artículo en Inglés | MEDLINE | ID: mdl-34000396

RESUMEN

BACKGROUND: Loss of control over drug intake occurring in drug addiction is believed to result from disruption of reward circuits, including reduced responsiveness to natural rewards (e.g., monetary, sex) and heightened responsiveness to drug reward. Yet few studies have assessed reward deficiency and related brain responses in abstinent heroin users with opioid use disorder, and less is known whether the brain responses can predict cue-induced craving changes following by prolonged abstinence. METHOD: 31 heroin users (age: 44.13±7.68 years, male: 18 (58%), duration of abstinence: 85.2 ± 52.5 days) were enrolled at a mandatory detoxification center. By employing a cue-reactivity paradigm including three types of cues (drug, sexual, neutral), brain regional activations and circuit-level functional coupling were extracted. Among the 31 heroin users, 15 were followed up longitudinally to assess cue induced craving changes in the ensuing 6 months. RESULTS: One way analysis of variance results showed that heroin users have differential brain activations to the three cues (neutral, drug and sexual) in the left dorsolateral prefrontal cortex (DLPFC), insula, orbiotofrontal cortex (OFC) and the bilateral thalamus. Drug cue induced greater activations in left DLPFC, insula and OFC compared to sexual cue. The psychophysiological interactions (PPI) analysis revealed negative couplings of the left DLPFC and the left OFC, bilateral thalamus, putamen in heroin users during drug cue exposure. In the 6-month follow-up study, both drug cue induced activation of the left DLPFC and the functional coupling of the left DLPFC-bilateral thalamus at baseline was correlated with craving reductions, which were not found for sexual cues. CONCLUSION: Our preliminary study provided novel evidence for the reward deficiency theory of opioid use disorder. Our findings also have clinical implications, as drug cue induced activation of the left DLPFC and functional coupling of left DLPFC-bilateral thalamus may be potential neuroimaging markers for craving changes during prolonged abstinence. Evidently, the findings in the current preliminary study should be confirmed by large sample size in the future.


Asunto(s)
Conducta Adictiva/fisiopatología , Conectoma , Ansia/fisiología , Señales (Psicología) , Dependencia de Heroína/fisiopatología , Corteza Prefrontal/fisiopatología , Tálamo/fisiopatología , Adulto , Conducta Adictiva/diagnóstico por imagen , Femenino , Estudios de Seguimiento , Dependencia de Heroína/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Corteza Prefrontal/diagnóstico por imagen , Conducta Sexual/fisiología , Tálamo/diagnóstico por imagen
7.
Hum Brain Mapp ; 42(7): 2077-2088, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-33459459

RESUMEN

As a critical component of cortico-striato-thalamo-cortical loop in addiction, our understanding of the thalamus in impaired cognition of heroin users (HU) has been limited. Due to the complex thalamic connection with cortical and subcortical regions, thalamus was divided into prefrontal (PFC), occipital (OC), premotor, primary motor, sensory, temporal, and posterior parietal association subregions according to white matter tractography. We adopted seven subregions of bilateral thalamus as regions of interest to systematically study the implications of distinct thalamic nuclei in acute abstinent HU. The volume and resting-state functional connectivity (RSFC) differences of the thalamus were investigated between age-, gender-, and alcohol-matched 37 HU and 33 healthy controls (HCs). Trail making test-A (TMT-A) was adopted to assess cognitive function deficits, which were then correlated with neuroimaging findings. Although no significant different volumes were found, HU group showed decreased RSFC between left PFC_thalamus and middle temporal gyrus as well as between left OC_thalamus and inferior frontal gyrus and supplementary motor area relative to HCs. Meanwhile, the higher TMT-A scores in HU were negatively correlated with PFC_thalamic RSFC with inferior temporal gyrus, fusiform, and precuneus. Craving scores were negatively correlated with OC_thalamic RSFC with accumbens, hippocampus, and insula. Opiate Withdrawal Scale scores were negatively correlated with left PFC/OC_thalamic RSFC with orbitofrontal cortex and medial PFC. We indicated two thalamus subregions separately involvement in cognitive control and craving to reveal the implications of thalamic subnucleus in pathology of acute abstinent HU.


Asunto(s)
Corteza Cerebral/fisiopatología , Conectoma , Dependencia de Heroína/fisiopatología , Red Nerviosa/fisiopatología , Síndrome de Abstinencia a Sustancias/fisiopatología , Tálamo/fisiopatología , Enfermedad Aguda , Adulto , Corteza Cerebral/diagnóstico por imagen , Femenino , Dependencia de Heroína/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Red Nerviosa/diagnóstico por imagen , Síndrome de Abstinencia a Sustancias/diagnóstico por imagen , Tálamo/diagnóstico por imagen
8.
Biochem Biophys Res Commun ; 554: 158-165, 2021 05 21.
Artículo en Inglés | MEDLINE | ID: mdl-33798942

RESUMEN

Ascorbate (Vitamin C) has been proposed as a promising therapeutic agent against sepsis in clinical trials, but there is little experimental evidence on its anti-septic efficacy. We report that Toll-like receptor 4 (TLR4) activation by LPS stimuli augments ascorbate uptake in murine and human tubular cells through upregulation of two ascorbate transporters SVCT-1 and -2 mediated by Fn14/SCFFbxw7α cascade. Ascorbate restriction, or knockout of SVCT-1 and -2, the circumstance reminiscent to blockade of ascorbate uptake, endows tubular cells more vulnerable to the LPS-inducible apoptosis, whereas exogenous administration of ascorbate overrides the ruin execution, for which the PINK1-PARK2, rather than BNIP3-NIX axis is required. Ascorbate increases, while SVCT-1 and -2 knockout or ascorbate restriction dampens tubular mitophagy upon LPS stimuli. Treatment of endotoxemic mice with high-dose ascorbate confers mitophagy and substantial protection against mortality and septic acute kidney injury (AKI). Our work provides a rationale for clinical management of septic AKI with high doses of ascorbate.


Asunto(s)
Lesión Renal Aguda/tratamiento farmacológico , Ácido Ascórbico/farmacología , Túbulos Renales/efectos de los fármacos , Proteínas Quinasas/metabolismo , Sepsis/metabolismo , Ubiquitina-Proteína Ligasas/metabolismo , Lesión Renal Aguda/etiología , Lesión Renal Aguda/metabolismo , Lesión Renal Aguda/prevención & control , Animales , Línea Celular , Modelos Animales de Enfermedad , Humanos , Túbulos Renales/metabolismo , Túbulos Renales/patología , Lipopolisacáridos/toxicidad , Masculino , Ratones , Mitocondrias/efectos de los fármacos , Mitocondrias/metabolismo , Mitocondrias/patología , Mitofagia/efectos de los fármacos , Sepsis/complicaciones , Transducción de Señal , Vitaminas/farmacología
9.
Langmuir ; 37(28): 8486-8497, 2021 07 20.
Artículo en Inglés | MEDLINE | ID: mdl-34236199

RESUMEN

Recently, a burgeoning category of biocompatible botanically derived nanomaterial cellulose nanofibers (CNFs) has captured tremendous attention on account of its entangled nanostructured network, natural abundance, and outstanding mechanical properties. Biomimetically inspired by the superior properties of CNFs, this paper examined them as the coating material to cover cyclotrimethylenetrinitramine (RDX), cyclotetramethylenetetranitramine (HMX), and hexanitrohexaazaisowurtzitane (CL-20) via a facile water suspension method and the ultrasonic technology. The core-shell structure and the composition of energetic crystal@CNF were examined through scanning electron microscopy, X-ray diffraction, Fourier transform infrared spectroscopy, Raman spectroscopy, and X-ray photoelectron spectroscopy analyses. The obtained outcomes demonstrated that the dispersibility of the CNF enhanced favorably upon covering the surface of explosive crystals; the interfacial contact ability between CNFs and energetic crystals was also manifested to be increased, which could be ascribed to the interfacial interaction of hydrogen bonds and the electrostatic force of self-assembly. In addition, the stable crystalloid construction of ß-HMX and ε-CL-20 has been preserved positively in the preparation process. In comparison with raw explosives, the thermal stability and sensitivity performances of the core-shell structure composites were outstanding. Accordingly, this work demonstrated the rewarding application of coating CNFs uniformly on the surface of energetic crystals, ulteriorly offering a potential fabrication strategy for the embellishment of high-explosive crystals.


Asunto(s)
Sustancias Explosivas , Nanofibras , Compuestos de Anilina , Celulosa , Nitrobencenos
10.
Mediators Inflamm ; 2021: 7890288, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34539244

RESUMEN

lncRNAs play important roles in lipopolysaccharide- (LPS-) induced acute lung injury. But the mechanism still needs further research. In the present study, we investigate the functional role of the lncRNA-SNHG14/miR-223-3p/Foxo3a pathway in LPS-induced ALI and tried to confirm its regulatory effect on autophagy. Transcriptomic profile changes were identified by RNA-seq in LPS-treated alveolar type II epithelial cells. The expression changes of lncRNA-SNHG14/miR-223-3p/Foxo3a were confirmed using qRT-PCR and west blot. The binding relationship of lncRNA-SNHG14/miR-223-3p/and miR-223-3p/Foxo3a was verified using dual-luciferase reporter, RNA immunoprecipitation, and RNA pull-down assays. Using gain-of-function or loss-of-function approaches, the effect of lncRNA-SNHG14/miR-223-3p/Foxo3a was investigated in LPS-induced acute lung injury mice model and in vitro. Increasing of lncRNA-SNHG14 and Foxo3a with reducing miR-223-3p was found in LPS-treated A549 cells and lung tissue collected from the LPS-induced ALI model. lncRNA-SNHG14 inhibited miR-223-3p but promoted Foxo3a expression as a ceRNA. Artificially changes of lncRNA-SNHG14/miR-223-3p/Foxo3a pathway promoted or protected cell injury from LPS in vivo and in vitro. Autophagy activity could be influenced by lncRNA-SNHG14/miR-223-3p/Foxo3a pathway in cells with or without LPS treatment. In conclusion, aberrant expression changes of lncRNA-SNHG14 participated alveolar type II epithelial cell injury and acute lung injury induced by LPS through regulating autophagy. One underlying mechanism is that lncRNA-SNHG14 regulated autophagy by controlling miR-223-3p/Foxo3a as a ceRNA. It suggested that lncRNA-SNHG14 may serve as a potential therapeutic target for patients with sepsis-induced ALI.


Asunto(s)
Lesión Pulmonar Aguda/genética , Proteína Forkhead Box O3/genética , Lipopolisacáridos/metabolismo , MicroARNs/genética , ARN Largo no Codificante/genética , Células A549 , Lesión Pulmonar Aguda/metabolismo , Células Epiteliales Alveolares/metabolismo , Animales , Apoptosis , Autofagia , Línea Celular Tumoral , Supervivencia Celular , Proteína Forkhead Box O3/metabolismo , Humanos , Ratones , MicroARNs/metabolismo , Unión Proteica , Transducción de Señal/genética
11.
Nanotechnology ; 31(33): 335713, 2020 Aug 14.
Artículo en Inglés | MEDLINE | ID: mdl-32357349

RESUMEN

It is still a key challenge to find suitable materials and methods to obtain super capacitors (SCs) with high specific capacitance due to the difficulty of balancing low theoretical capacity of conventional carbon materials and the poor ion transportability of transition metal oxide. In this work, N Ni dual-doped porous carbon nanosheets (NiOx-NCNSs) are prepared through a novel way using original N-doped chitosan nanofibers and nickel nitrate to form honeycomb layered structure constructed by 2D fiber network as precursors. NiOx-NCNS exhibits a high specific surface area of 1847.4 m2 g-1 with a rich N content of up to 5.16 wt% and shows a higher specific capacitance of 614.6 F g-1 at a current density of 1 A g-1 than that of carbon nanosheets of undoped Ni (NCNS) (427.5 F g-1). More specifically, the SC assembled using NiOx-NCNS electrodes achieves a high energy density of 20.3 W h kg-1 at a power density of 240.9 W kg-1, which is superior to most of the CNS-based SCs that have been reported. After 10 000 cycles, the symmetric SC retains approximately 85.61% of the initial capacitance. The strategy provided in this work probes the feasibility of high-performance SCs.

12.
Nanotechnology ; 31(7): 075708, 2020 Feb 07.
Artículo en Inglés | MEDLINE | ID: mdl-31665701

RESUMEN

Perovskite nanocrystal embedded polymer nanofibers with polarized emissions are interesting materials for down-shifting applications. By using a folded aluminum foil as a collector, we fabricated inch-size aligned polymer nanofiber films with embedded CH3NH3PbBr3 nanocrystals by adapting an electrospinning technique. It was found that the addition of an appropriate amount of cyanoethyl cellulose (CEC) makes the dispersion of MAPbBr3 in the nanofibers more uniform. Using a precursor solution with MAPbBr3 of 10% and CEC of 1 wt%, the resulting nanofiber films show strong polarized emission with quantum yields up to 51%. The emission dichroic ratio and emission polarization ratio can reach 5.21 and 0.43, respectively. These polarized emissive films can be potentially applied as down converters for liquid crystal display backlights and other polarization selective photonic devices.

13.
J Nutr ; 149(12): 2110-2119, 2019 12 01.
Artículo en Inglés | MEDLINE | ID: mdl-31504723

RESUMEN

BACKGROUND: Selenium is prioritized to the brain mainly for selenoprotein expression. Selenoprotein T (SELENOT) protects dopaminergic, postmitotic neurons in a mouse model of Parkinson's disease (PD). OBJECTIVE: We hypothesized a proliferative role of SELENOT in neural cells. METHODS: To assess SELENOT status in PD, sedated male C57BL/6 mice at 10-12 wk of age were injected with 6-hydroxydopamine in neurons, and human peripheral blood mononuclear cells were isolated from 9 healthy subjects (56% men, 68-y-old) and 11 subjects with PD (64% men, 63-y-old). Dopaminergic neural progenitor-like SK-N-SH cells with transient SELENOT overexpression or knockdown were maintained in the presence or absence of the antioxidant N-acetyl-l-cysteine and the calcium channel blocker nimodipine. Cell cycle, proliferation, and signaling parameters were determined by immunoblotting, qPCR, and flow cytometry. RESULTS: SELENOT mRNA abundance was increased (P < 0.05) in SK-N-SH cells treated with 1-methyl-4-phenylpyridinium iodide (3.5-fold) and peripheral blood mononuclear cells from PD patients (1.6-fold). Likewise, SELENOT was expressed in tyrosine hydroxylase-positive dopaminergic neurons of 6-hydroxydopamine-injected mice. Knockdown of SELENOT in SK-N-SH cells suppressed (54%; P < 0.05) 5-ethynyl-2'-deoxyuridine incorporation but induced (17-47%; P < 0.05) annexin V-positive cells, CASPASE-3 cleavage, and G1/S cell cycle arrest. SELENOT knockdown and overexpression increased (88-120%; P < 0.05) and reduced (37-42%; P < 0.05) both forkhead box O3 and p27, but reduced (51%; P < 0.05) and increased (1.2-fold; P < 0.05) cyclin-dependent kinase 4 protein abundance, respectively. These protein changes were diminished by nimodipine or N-acetyl-l-cysteine treatment (24 h) at steady-state levels. While the N-acetyl-l-cysteine treatment did not influence the reduction in the amount of calcium (13%; P < 0.05) by SELENOT knockdown, the nimodipine treatment reversed the decreased amount of reactive oxygen species (33%; P < 0.05) by SELENOT overexpression. CONCLUSIONS: These cellular and mouse data link SELENOT to neural proliferation, expanding our understanding of selenium protection in PD.


Asunto(s)
Proliferación Celular/fisiología , Fase G1/fisiología , Enfermedad de Parkinson/patología , Fase S/fisiología , Selenoproteínas/fisiología , Anciano , Animales , Calcio/metabolismo , Línea Celular , Femenino , Humanos , Masculino , Ratones , Ratones Endogámicos C57BL , Persona de Mediana Edad , Enfermedad de Parkinson/metabolismo , Especies Reactivas de Oxígeno/metabolismo , Regulación hacia Arriba
14.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(6): 577-580, 2019 Jun 10.
Artículo en Zh | MEDLINE | ID: mdl-31055809

RESUMEN

OBJECTIVE: To explore the clinical, neuropathological and genetic characteristics of a patient with Perrault syndrome caused by TWNK mutation. METHODS: Potential variation of the TWNK gene was detected by next-generation sequencing (NGS) and verified by Sanger sequencing. RESULTS: The patient has featured primary amenorrhoea and progressive sensorineural hearing loss since childhood. She also had gait anormaly, distal limb atrophy and weakness, and nystagmus. Further study confirmed sensory neuronopathy accompanied with upper and lower motor neuron involvement as well as cerebellum atrophy. NGS has identified two heterozygous variants of the TWNK gene, namely c.794G>A (p.Arg265His) and c.1181G>A (p.Arg394His). Sanger sequencing confirmed that c.1181G>A (p.Arg394His), a known pathogenic variant, was derived from her farther, while c.794G>A(p.Arg265His), a novel variant, was derived from her mother and likely pathogenic according to the ACMG guidelines. CONCLUSION: Perrault syndrome is a group of disorders with a high phenotypic heterogeneity. The compound heterozygous variation of c.794G>A (p.Arg265His) and c.1181G>A(p.Arg394His) of the TWNK gene may underlie Perrault syndrome in the patient.


Asunto(s)
Disgenesia Gonadal 46 XX , Pérdida Auditiva Sensorineural , Niño , Femenino , Pruebas Genéticas , Humanos , Linaje
15.
Neurobiol Dis ; 114: 17-23, 2018 06.
Artículo en Inglés | MEDLINE | ID: mdl-29486294

RESUMEN

It is well recognized that mitochondrial dysfunction is involved in the pathogenesis of Parkinson's disease (PD). The mtDNA displacement loop (D-loop) region is known to accumulate structural alterations and mutations. To understand how mtDNA variants contribute to the susceptibility to sporadic PD in Chinese, a total of 500 PD patients and 505 controls were recruited from East China, and their D-loop regions were sequenced. A total of 389 variants were detected out of the 1005 subjects. There were 91 variants with frequencies >1%, which included 88 single nucleotide polymorphisms (SNPs), 2 deletions and 1 insertion. Amongst, 6 SNPs were significantly associated with sporadic PD. Specifically, the SNPs 151T/C, 189G/A, 16086C/T and 16271C/T contributed to increased susceptibility, while 318C/T and 16134T/C were associated with reduced risk for PD. Further analyses of mtDNA haplogroups and their risk for PD occurrence showed that subjects carrying haplogroup A5 were susceptible while haplogroup B5 carriers were more resistant to the disease. In summary, our study for the first time systematically analyzed mtDNA variants by sequencing the D-loop region in a Chinese population to understand their associations with PD. These results demonstrate that mtDNA variants modulate risk for sporadic PD.


Asunto(s)
Pueblo Asiatico/genética , ADN Mitocondrial/genética , Predisposición Genética a la Enfermedad/genética , Variación Genética/genética , Enfermedad de Parkinson/diagnóstico , Enfermedad de Parkinson/genética , Anciano , Pueblo Asiatico/etnología , Femenino , Predisposición Genética a la Enfermedad/etnología , Humanos , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/etnología
16.
Biomacromolecules ; 18(12): 4196-4205, 2017 Dec 11.
Artículo en Inglés | MEDLINE | ID: mdl-29039654

RESUMEN

Extracted nanocellulose from natural resources commonly requires modification before it is used as an effective nanofiller. In the present study, through an enzymatic polymerization of α-d-glucose 1-phosphate from the primer 2-(glucosyloxy)ethyl methacrylate (GEMA), a novel type of two-dimensional methacrylate-containing cellulose nanosheets (CNS) with a thickness of about 6 nm, named as GEMA-CNS, was directly synthesized under a mild condition by a "bottom-up" method. The structure and morphology of GEMA-CNS were characterized by 1H-nuclear magnetic resonance (NMR), matrix-assisted laser desorption/ionization time-of-flight mass spectra (MALDI-TOF MS), Fourier transform infrared (FTIR) spectroscopy, X-ray diffraction (XRD), transmission electron microscopy (TEM), and atomic force microscopy (AFM). Afterward, the obtained GEMA-CNS was covalently incorporated into poly(ethylene glycol) matrix through thiol-ene Michael addition, fabricating a series of GEMA-CNS-based nanocomposite hydrogels. The addition of GEMA-CNS effectively improved the mechanical strength and altered the internal network structures of hydrogels; additionally, the swelling/biodegradation behaviors of gels in phosphate buffer saline (pH 7.4) at 37 °C were affected to some degree. This species of property-tunable hydrogels with GEMA-CNS dosage demonstrates potential applications in tissue engineering. The current presentation opens a new road for direct enzymatic preparation of reactive nanocellulose and its novel applications in nanocomposite materials.


Asunto(s)
Celulosa/química , Hidrogeles/química , Nanocompuestos/química , Metacrilatos/química , Microscopía de Fuerza Atómica/métodos , Microscopía Electrónica de Rastreo , Polimerizacion , Espectroscopía Infrarroja por Transformada de Fourier/métodos , Difracción de Rayos X/métodos
17.
Int J Biol Macromol ; 261(Pt 2): 129770, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38302028

RESUMEN

Via rational molecular structure design and using gallic acid (GA) for hydrophobic modification of cellulose nanofibers (CNF), the "polymer dipole" CNF-GA with hydrophilic main chains and hydrophobic side chains was prepared, which improved the poor piezoelectric properties of CNF used for preparing pressure sensors. Due to the appearance of the side chains, the elongation at break of the CNF-GA-2, compared with CNF, was enhanced by 186 %, and the excellent tensile strength, puncture load, and tearing strength were displayed. Moreover, the significant glass transition temperature (Tg) near the human body temperature was exhibited for CNF-GA, making it possible to be applied in temperature sensing. Most importantly, the CNF-GA-2 showed the maximum hydrophobicity, with a contact angle of 76.77°. Finally, the CNF-GA-2/MXene nanocomposite film was prepared by the CNF-GA-2 with MXene through vacuum filtration. The results indicated that the film had excellent piezoelectric properties (d33 = 63.283), the generated stable induced voltage (125.6 mV), the preferable piezoresistive performance (ΔR/R0 = 2.15), the fast response/recovery time (48/61 ms), which could achieve dynamic and static responses. Moreover, this film could be used for real-time detection of limb movements (such as wrists).


Asunto(s)
Celulosa , Nanofibras , Nitritos , Elementos de Transición , Humanos , Celulosa/química , Nanofibras/química , Polímeros , Resistencia a la Tracción , Interacciones Hidrofóbicas e Hidrofílicas
18.
Artículo en Inglés | MEDLINE | ID: mdl-38662219

RESUMEN

The weak stiffness, huge thickness, and low specific capacitance of commonly utilized flexible supercapacitors hinder their great electrochemical performance. Learning from a biomimetic interface strategy, we design flexible film electrodes based on functional intercalated structures with excellent electrochemical properties and mechanical flexibility. A composite film with high strength and flexibility is created using graphene (reduced graphene oxide (rGO)) as the plane layer, layered double metal hydroxide (LDH) as the support layer, and cellulose nanofiber (CNF) as the connection agent and flexible agent. The interlayer height can be adjusted by the ion concentration. The highly interconnected network enables excellent electron and ion transport channels, facilitating rapid ion diffusion and redox reactions. Moreover, the high flexibility and mechanical properties of the film achieve multiple folding and bending. The CNF-rGO-NiCoLDH film electrode exhibits high capacitance performance (3620.5 mF cm-2 at 2 mA cm-2), excellent mechanical properties, and high flexibility. Notably, flexible all-solid assembled CNF-rGO-NiCoLDH//rGO has an extremely high area energy density of 53.5 mWh cm-2 at a power density of 1071.2 mW cm-2, along with cycling stability of 89.8% retention after 10 000 charge-discharge cycles. This work provides a perspective for designing high-performance energy storage materials for flexible electronics and wearable devices.

19.
Cellulose (Lond) ; 20(6): 3007-3024, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-26412950

RESUMEN

Photoluminiscent (PL) cellulose aerogels of variable shape containing homogeneously dispersed and surface-immobilized alloyed (ZnS)x(CuInS2)1-x/ZnS (core/shell) quantum dots (QD) have been obtained by (1) dissolution of hardwood prehydrolysis kraft pulp in the ionic liquid 1-hexyl-3-methyl-1H-imidazolium chloride, (2) addition of a homogenous dispersion of quantum dots in the same solvent, (3) molding, (4) coagulation of cellulose using ethanol as antisolvent, and (5) scCO2 drying of the resulting composite aerogels. Both compatibilization with the cellulose solvent and covalent attachment of the quantum dots onto the cellulose surface was achieved through replacement of 1-mercaptododecyl ligands typically used in synthesis of (ZnS)x(CuInS2)1-x/ZnS (core-shell) QDs by 1-mercapto-3-(trimethoxysilyl)-propyl ligands. The obtained cellulose-quantum dot hybrid aerogels have apparent densities of 37.9-57.2 mg cm-3. Their BET surface areas range from 296 to 686 m2 g-1 comparable with non-luminiscent cellulose aerogels obtained via the NMMO, TBAF/DMSO or Ca(SCN)2 route. Depending mainly on the ratio of QD core constituents and to a minor extent on the cellulose/QD ratio, the emission wavelength of the novel aerogels can be controlled within a wide range of the visible light spectrum. Whereas higher QD contents lead to bathochromic PL shifts, hypsochromism is observed when increasing the amount of cellulose at constant QD content. Reinforcement of the cellulose aerogels and hence significantly reduced shrinkage during scCO2 drying is a beneficial side effect when using α-mercapto-ω-(trialkoxysilyl) alkyl ligands for QD capping and covalent QD immobilization onto the cellulose surface.

20.
Carbohydr Polym ; 311: 120744, 2023 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-37028854

RESUMEN

The addition of urea in pre-cooled alkali aqueous solution is known to improve the dope stability of cellulose solution. However, its thermodynamic mechanism at a molecular level is not fully understood yet. By using molecular dynamics simulation of an aqueous NaOH/urea/cellulose system using an empirical force field, we found that urea was concentrated in the first solvation shell of the cellulose chain stabilized mainly by dispersion interaction. When adding a glucan chain into the solution, the total solvent entropy reduction is smaller if urea is present. Each urea molecule expelled an average of 2.3 water molecules away from the cellulose surface, releasing water entropy that over-compensates the entropy loss of urea and thus maximizing the total entropy. Scaling the Lennard-Jones parameter and atomistic partial charge of urea revealed that direct urea/cellulose interaction was also driven by dispersion energy. The mixing of urea solution and cellulose solution in the presence or absence of NaOH are both exothermic even after correcting for the contribution from dilution.

SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA