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2.
Bioelectrochemistry ; 156: 108628, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38104457

RESUMO

To enhance the sensitivity of flexible glucose sensors made with 3-aminophenylboronic acid and pyrrole as functional molecules and a carbon tri-electrode as substrate, graphene sponge (GS) and Prussian blue (PB) were used to enhance the charge transfer between the molecularly imprinted cavities and the electrodes. Electrochemical impedance spectroscopy and cyclic voltammetry showed that modifying the electrode with GS and PB significantly reduced the charge transfer impedance and increased the redox current of the sensor. The sensor has a sensitivity of up to 25.81 µA⋅loge (µM)-1⋅cm-2 for the detection of glucose using differential pulse voltammetry in the range of 7.78 to 600 µM, with a low detection limit of 1.08 µM (S/N = 3). When the pH varies in the range of 5.5 to 7.5, the sensor maintains a certain level of stability for glucose detection. The presence of lactic acid, urea, and ascorbic acid had minimal impact on glucose detection by the sensor. After 20 days of storage at room temperature, the sensor maintains 80 % efficiency. This study supports the development of wearable glucose sensors with high sensitivity, specificity, and stability through molecular imprinting.


Assuntos
Grafite , Impressão Molecular , Grafite/química , Carbono/química , Ferrocianetos/química , Impressão Molecular/métodos , Eletrodos , Glucose , Técnicas Eletroquímicas/métodos , Limite de Detecção
3.
Adv Sci (Weinh) ; 10(29): e2303407, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37525629

RESUMO

The main obstacle of ionic thermo-electrochemical cells (TECs) in continuous power supply lies in a low heat-to-electricity energy conversion efficiency because most TECs work in thermodiffusion mode in which the ions are confined in a liquid/electrolyte media. The introduction of the redox couple onto the electrode surface may overcome the obstacle by resolving the low mass transport rate of ions caused by the redox process occurring near but not on the electrode surface. Herein, the authors demonstrate enhancement of TECs by integrating the redox couple directly onto the electrode surface to maximize the mass transport efficiency. A discontinuous interfacial modification strategy is developed by using a carbon cloth/iron (II/III) phytate as the symmetric electrodes. The gelled electrolyte consisting of a polyacrylamide matrix and phytic acid is shown to promote selective ion diffusion. A synergistic combination consisting of the thermodiffusion effect and redox reactions on the electrode is established in a pre-treated layout. Such TEC affords a high output voltage of 0.4 V, an excellent instantaneous output power density (20.26 mW m-2 K-2 ) and a record-high 2 h output energy density (2451 J m-2 ) under TH = 30 °C with TC = 15 °C, with an ultrahigh Carnot-relative efficiency of 1.12%.

4.
Angew Chem Int Ed Engl ; 62(35): e202307947, 2023 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-37421169

RESUMO

Low-grade heat is ubiquitous in the environment and its thermoelectric conversion by the ionic conductors remains a challenge because of the low efficiency and poor sustainability. Here we demonstrate that the thermoelectric performances can be boosted by combining the Soret effect of protons and proton-coupled electron transfer (PCET) reaction of benzoquinone and hydroquinone in hydrogels. An overall enhancement of thermopower (25.9 mV K-1 ), power factor (5 mW m-1 K-2 ), figure of merit (>2.4) and continuity of power output is achieved. Moreover, an energy-storage function can be achieved by the redox couple, and a retained power output of 27.7 %, or 14 mW m-2 for more than 3 hours is obtained by the re-balance of PCET reactants in the hydrogel after the removal of the temperature gradient.

5.
Dalton Trans ; 51(31): 11665-11674, 2022 Aug 09.
Artigo em Inglês | MEDLINE | ID: mdl-35848432

RESUMO

Besides the adjustment of the active centres, the precisely designed microstructures of the carbon hosts also play a significant role in improving the battery performance. Herein, MOF-derived Fe3O4@NCs were prepared through a molten salt-assisted calcination method at different carbonization temperatures. Compared with the materials obtained at 700 °C, LK450 calcined at a lower temperature of 450 °C maintains suitable pore sizes and more N-doping and exhibits excellent Li-ion transport performance. Thus, the S/LK450 cathode can achieve an outstanding rate performance of up to 5 C (∼528 mA h g-1) and an extremely low capacity decay of 0.037% per cycle after 500 cycles at 1C. Notably, even with a high sulfur loading (4.0 mg cm-2), the S/LK450 cathode can still deliver a high capacity of 673 mA h g-1 at 0.2C after 100 cycles. Briefly, this work demonstrates the superiorities to prepare the samples at relatively low carbonization temperatures, which guarantee a better ion path structure and sufficient N-doping in the carbon skeleton.

6.
Front Neurosci ; 16: 854685, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35509450

RESUMO

High-dimensional biomedical data contained many irrelevant or weakly correlated features, which affected the efficiency of disease diagnosis. This manuscript presented a feature selection method for high-dimensional biomedical data based on the chemotaxis foraging-shuffled frog leaping algorithm (BF-SFLA). The performance of the BF-SFLA based feature selection method was further improved by introducing chemokine operation and balanced grouping strategies into the shuffled frog leaping algorithm, which maintained the balance between global optimization and local optimization and reduced the possibility of the algorithm falling into local optimization. To evaluate the proposed method's effectiveness, we employed the K-NN (k-nearest Neighbor) and C4.5 decision tree classification algorithm with a comparative analysis. We compared our proposed approach with improved genetic algorithms, particle swarm optimization, and the basic shuffled frog leaping algorithm. Experimental results showed that the feature selection method based on BF-SFLA obtained a better feature subset, improved classification accuracy, and shortened classification time.

7.
Nanotechnology ; 33(31)2022 May 11.
Artigo em Inglês | MEDLINE | ID: mdl-35453126

RESUMO

Dielectric loss is an important way to eliminate electromagnetic pollution. In order to achieve high dielectric loss, a graphene film reduced graphene oxide-N doped graphene (rGO-NG) was constructed from graphene oxide-Ni@polydopamine (GO-Ni@PDA) via thein situsynthesis of hollow graphene spheres between graphene sheets. Thisin situwas achieved by means of electrostatic self-assembly and metal-catalyzed crystallization. Owing to the synergetic effect of multi-nanocavities and multi-defects, the prepared rGO-NG film shows an average shielding effectiveness (SE) of 50.0 dB in the range of 8.2-12.4 GHz with a thickness of 12.2µm, and the SE reflection is only 7.3 dB on average. It also exhibits an average dielectric loss tangent (tanδ) of 23.1, which is 26 and 105 times higher than those of rGO and rGO-Ni, respectively. This work provides a simple but effective route to develop high performance graphene-based materials for application as an electromagnetic interference shielding film in today's electronic devices.

8.
ChemSusChem ; 15(1): e202101991, 2022 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-34664405

RESUMO

The chemisorption and catalysis of lithium polysulfides (LiPSs) are effective strategies to suppress the shuttle effect in lithium-sulfur (Li-S) batteries. Herein, multisize CoS2 particles intercalated/coated-montmorillonite (MMT) as an efficient sulfur host is synthesized. As expected, the obtained S/CoS2 @MMT cathode achieves an absorption-catalysis synergistic effect through the polar MMT aluminosilicate sheets and the well-dispersed nano-micron CoS2 particles. Furthermore, efficient interlamellar ion pathways and interconnected conductive network are constructed within the composite host due to the intercalation/coating of CoS2 in/on MMT. Therefore, the S/CoS2 @MMT cathode achieves an outstanding rate performance up to 5C (∼548 mAh g-1 ) and a high cycling stability with low capacity decay of 0.063 and 0.067 % per cycle for 500 cycles at 1C and 2C, respectively. With a higher sulfur loading of 4.0 mg cm-2 , the cathode still delivers satisfactory rate and cycling performance. It shows that the CoS2 @MMT host has great application prospects in Li-S batteries.

9.
Front Immunol ; 12: 630619, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33995352

RESUMO

Takayasu arteritis (TA) is a chronic inflammatory disease involving the aorta and its principal branches. Acute ischaemic stroke (AIS) as the initial manifestation of TA is uncommon. There is little evidence on the efficacy of bridging therapy for AIS induced by TA. A 23-year-old Chinese woman with a suspected stroke presented to our hospital with sudden onset of right-sided weakness, right facial palsy, and aphasia that occurred 1 hour ago. After physical and ancillary examinations, recombinant tissue plasminogen activator was administered to the patient, which led to partial recovery. Her neurological function deteriorated with a large salvageable ischaemic penumbra on computed tomography perfusion. Cerebrovascular angiography showed multiple stenoses in the brachiocephalic trunk, the beginning of the right common carotid artery (CCA), and the bilateral subclavian arteries, as well as occlusion of the left CCA and its branches. Mechanical thrombectomy of the left middle cerebral artery was performed immediately. Percutaneous transluminal balloon angioplasty of the left CCA followed by stent implantation of the proximal left CCA was then performed. A diagnosis of TA was made based on the findings. The patient's neurological deficit fully recovered with immunosuppressants at the 3 month-follow-up. We report a rare case of a patient with TA initially presenting with AIS treated with bridging therapy with full recovery of neurological function. Bridging therapy should be taken into consideration for AIS in patients with TA. Further study is needed in this regard.


Assuntos
AVC Isquêmico/terapia , Arterite de Takayasu/complicações , Trombectomia/métodos , Terapia Trombolítica/métodos , Adulto , Feminino , Humanos , Ativador de Plasminogênio Tecidual/uso terapêutico
10.
Ann Palliat Med ; 9(6): 3731-3741, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33302645

RESUMO

BACKGROUND: Patients with ischemic stroke who have H-type hypertension are at an increased risk of recurrent stroke. The relationship between risk perception and lifestyle in these patients has not been fully explored. The objective of this study is to investigate risk perceptions and lifestyles among H-type hypertensive ischemic stroke patients and explore their relationships. METHODS: A total of 314 hypertensive ischemic stroke patients were divided according to homocysteine (Hcy) level into the normal Hcy and high Hcy group using convenience sampling. The high Hcy group was further divided into the perceived or non-perceived group based on the patients' risk perceptions. The Essen Stroke Risk Score and the Health Behavior Scale were used to investigate the patients' risk perceptions and lifestyles. RESULTS: The perceived risk factors in the high Hcy group included hypertension, diabetes, alcohol consumption, hyperlipidemia, and smoking, which showed no significant difference with those in the normal Hcy group. The high Hcy group had a total lifestyle score of (2.54±0.42). The perceived group had a better lifestyle than the non-perceived group; however, only blood pressure monitoring compliance showed a significant difference between the groups (P<0.05). The lifestyles of subjects whose perceived risks included diabetes, hyperlipidemia, smoking, and alcohol consumption were not significantly different to those in the non-perceived group. CONCLUSIONS: Patients with H-type hypertensive ischemic stroke who perceive hypertension as a risk factor have relatively good lifestyles. Therefore, efforts should be made to strengthen risk education for these patients to help improve their risk perception and lifestyles.


Assuntos
Isquemia Encefálica , Hipertensão , AVC Isquêmico , Acidente Vascular Cerebral , Humanos , Estilo de Vida , Percepção , Fatores de Risco
11.
Mult Scler Relat Disord ; 39: 101888, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31869599

RESUMO

BACKGROUND: Neuromyelitis optica spectrum disorder (NMOSD) and MS are the most common autoimmune inflammatory demyelinating diseases of the CNS. However, the mechanisms of pathogenesis are still unclear. nucleotide-binding leucine-rich repeat (NLR) family pyrin domain containing 3 (NLRP3), an important protein of the innate immune system that is activated by mitochondrial DNA (mtDNA), has been reported to be associated with various autoimmune disorders. OBJECTIVE: To assess the levels of cerebrospinal fluid (CSF) NLRP3, mtDNA and inflammation-associated cytokines (IL-1ß, IL-6 and IL-17) in patients with NMOSD and MS, and to examine the correlations between these factors. METHODS: 28 NMOSD patients, 15 MS patients, and 16 controls with non-inflammatory neurological diseases were recruited. NLRP3 inflammasome, IL-1ß, IL-6 and IL-17 were measured by ELISA. CSF extracellular mtDNA was measured by qPCR. The severity of clinical presentation was evaluated by EDSS score. RESULTS: CSF levels of NLRP3, mtDNA, IL-1ß, IL-6 and IL-17 were higher in NMOSD patients than in controls. Elevated CSF NLRP3, mtDNA and IL-6 were found in MS patients compared with controls. CSF NLRP3 and IL-6 levels were significantly higher in NMOSD patients than in MS patients. The EDSS scores of NMOSD patients during relapse were positively correlated with CSF NLRP3 and mtDNA. CONCLUSION: Our findings suggest that CSF levels of the NLRP3 inflammasome may serve as a diagnostic biomarker for distinguishing NMOSD and MS. Pyroptosis mediated by the NLRP3 inflammasome following mitochondrial damage may play an important role in the pathogenesis of these neuroinflammatory disorders, especially NMOSD.

12.
Stroke ; 51(2): 637-640, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31795900

RESUMO

Background and Purpose- The relationship between infarct dimensions and neurological progression in patients with acute pontine infarctions remains unclear. This study aimed to investigate the morphometric predictive value of magnetic resonance imaging for early neurological deterioration (END) in acute pontine infarction. Methods- We included all patients admitted to our department having an acute ischemic stroke in the pons. The ventrodorsal length multiplied by thickness was measured as parameters of infarct size. END was defined as an incremental increase in the National Institutes of Health Stroke Scale score by ≥1 point in motor power, or ≥2 points in the total score within the first week after admission. Results- We enrolled 407 patients, and 114 (28.0%) patients were diagnosed with END. Adjusted logistic regression analyses showed the maximum length multiplied by thickness was independently associated with END (odds ratio, 4.580 [95% CI, 2.909-7.210]). The sensitivity, specificity, and area under the curve were 77.2%, 79.2%, and 0.843, respectively, in the receiver operating characteristic curve analysis of maximum length multiplied by thickness for predicting END. Conclusions- These results suggest that the maximum length multiplied by thickness may be a possible predictor in the evaluation of progression with isolated acute pontine infarction. The extent of the pontine infarction along the conduction tract may contribute to deterioration.


Assuntos
Isquemia Encefálica/diagnóstico , Infartos do Tronco Encefálico/diagnóstico , Diagnóstico Precoce , Valor Preditivo dos Testes , Acidente Vascular Cerebral/diagnóstico , Idoso , Isquemia Encefálica/fisiopatologia , Infartos do Tronco Encefálico/fisiopatologia , Angiografia Cerebral/métodos , Imagem de Difusão por Ressonância Magnética/métodos , Progressão da Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Curva ROC , Fatores de Risco , Acidente Vascular Cerebral/fisiopatologia
13.
Neural Plast ; 2019: 1247276, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31582965

RESUMO

Background: Wnt/ß-catenin signaling has been reported to exert cytoprotective effects in a cellular model of Parkinson's disease (PD). Glutamate excitotoxicity has been suggested to contribute to the pathogenesis of PD, and excitatory amino acid transporters (EAATs) play a predominant role in clearing excessive glutamate. EAAT2 is mainly expressed in astrocytes, which are an important source of Wnt signaling in the brain. Methods: Wnt1-overexpressing U251 astrocytes were indirectly cocultured with dopaminergic SH-SY5Y cells treated with 6-hydroxydopamine (6-OHDA). Cell toxicity was determined by cell viability and flow cytometric detection. Glutamate level in the culture medium was determined by enzyme-linked immunosorbent assay (ELISA). Western blot analysis was used to detect the expression of Wnt1, ß-catenin, and EAAT2. Immunofluorescence was used to display the expression and translocation of NF-κB p65. Results: 6-OHDA treatment significantly decreased cell viability in both U251 cells and SH-SY5Y cells, inhibited the expression of Wnt1, ß-catenin, and EAAT2 in U251 cells, and increased the glutamate level in the culture medium. Coculture with Wnt1-overexpressing U251 cells attenuated 6-OHDA-induced apoptosis in SH-SY5Y cells. Overexpression of Wnt1 decreased the glutamate level in the culture media, upregulated ß-catenin, EAAT2, and NF-κB levels, and promoted the translocation of NF-κB from the cytoplasm to the nucleus in U251 cells. Conclusion: Wnt1 promoted EAAT2 expression and mediated the cytoprotective effects of astrocytes on dopaminergic cells. NF-κB might be involved in the regulation of EAAT2 by Wnt1.


Assuntos
Apoptose/fisiologia , Astrócitos/metabolismo , Neurônios Dopaminérgicos/metabolismo , Transportador 2 de Aminoácido Excitatório/metabolismo , Oxidopamina/farmacologia , Proteína Wnt1/metabolismo , Apoptose/efeitos dos fármacos , Astrócitos/efeitos dos fármacos , Linhagem Celular , Técnicas de Cocultura , Neurônios Dopaminérgicos/efeitos dos fármacos , Ácido Glutâmico/metabolismo , Humanos , Doença de Parkinson/metabolismo , Via de Sinalização Wnt/efeitos dos fármacos , Via de Sinalização Wnt/fisiologia , Proteína Wnt1/genética , beta Catenina/metabolismo
15.
Entropy (Basel) ; 21(3)2019 Mar 08.
Artigo em Inglês | MEDLINE | ID: mdl-33266980

RESUMO

To further improve the cycle performance of gas turbines, a gas turbine cycle model based on interstage bleeding rotating detonation combustion was established using methane as fuel. Combined with a series of two-dimensional numerical simulations of a rotating detonation combustor (RDC) and calculations of cycle parameters, the pressure gain characteristics and cycle performance were investigated at different compressor pressure ratios in the study. The results showed that pressure gain characteristic of interstage bleeding RDC contributed to an obvious performance improvement in the rotating detonation gas turbine cycle compared with the conventional gas turbine cycle. The decrease of compressor pressure ratio had a positive influence on the performance improvement in the rotating detonation gas turbine cycle. With the decrease of compressor pressure ratio, the pressurization ratio of the RDC increased and finally made the power generation and cycle efficiency enhancement rates display uptrends. Under the calculated conditions, the pressurization ratios of RDC were all higher than 1.77, the decreases of turbine inlet total temperature were all more than 19 K, the power generation enhancements were all beyond 400 kW and the cycle efficiency enhancement rates were all greater than 6.72%.

16.
Brain Behav ; 8(4): e00946, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29670826

RESUMO

Objectives: The association of branch atherosclerotic disease (BAD) and diabetes mellitus (DM) in the territory of posterior circulation is rarely discussed. Intracranial BAD was divided into two different types: paramedian pontine arteries (PPA) disease (PPD) and lenticulostriate arteries (LSA) disease. The goal of the study was to evaluate the clinical characteristics of PPD and its association with hemoglobinA1c (HbA1c) in China. Materials and Methods: Radiologically confirmed PPD was defined as an isolated unilateral infarction extending to the ventral surface of the pons. Small deep cerebral infarctions are usually caused by two different pathological changes of arteries: BAD and lipohyalinotic degeneration (LD). We compared the vascular risk factors between BAD and LD in PPA territory. A total of 159 stroke patients were analyzed (PPD, n = 75; LD, n = 84). Patients with PPD were also categorized into two groups according to follow-up modified Rankin Scale (FmRS) scores. Logistic regression analyses were used for the evaluation of independent risk factors of PPD and prognosis. Results: Comparison between PPD and LD revealed statistical significance in fasting glucose, HbA1c, estimated glomerular filtration rate (eGFR), and uric acid (p = .011, p = .005, p = .027, p = .018, respectively). Compared with LD, PPD was only related to HbA1c (p = .011) in logistic regression analysis. There were statistically significant differences between the two groups based on the stratification of FmRS scores in fasting glucose, HbA1c, homocysteine, eGFR, and the occurrence of DM. After multivariate analysis, only HbA1c was related with poor prognosis of PPD (p = .002). Conclusions: The subtypes and prognosis of small deep brain infarcts are significantly influenced by elevated HbA1c level in PPA territory. DM might play an important role in the pathogenesis of PPD.


Assuntos
Artéria Basilar/diagnóstico por imagem , Infartos do Tronco Encefálico/diagnóstico por imagem , Diabetes Mellitus/metabolismo , Hemoglobinas Glicadas/metabolismo , Arteriosclerose Intracraniana/diagnóstico por imagem , Ponte/diagnóstico por imagem , Adulto , Idoso , Idoso de 80 Anos ou mais , Artérias/diagnóstico por imagem , Doença Cerebrovascular dos Gânglios da Base/diagnóstico por imagem , Doença Cerebrovascular dos Gânglios da Base/metabolismo , Glicemia/metabolismo , Infartos do Tronco Encefálico/metabolismo , China , Feminino , Humanos , Arteriosclerose Intracraniana/metabolismo , Modelos Logísticos , Angiografia por Ressonância Magnética , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Ponte/irrigação sanguínea , Prognóstico , Fatores de Risco , Acidente Vascular Cerebral/diagnóstico por imagem , Acidente Vascular Cerebral/metabolismo
17.
Mult Scler Relat Disord ; 22: 83-85, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29621743

RESUMO

Multiple sclerosis and neuromyelitis optica spectrum disorder are currently thought to be independent entities. Some patients display intermediate manifestations that fit the criteria for both diseases without positive relevant serobiomarkers. An overall standard and consensus for the diagnosis and treatment of these overlapping patients have not been reached. We describe a patient with frequently relapsing demyelinating episodes and repeatedly adjusted treatment regimens due to diagnostic difficulties. This case did not respond adequately to glucocorticoid plus azathioprine or to interferon. Benefits were finally obtained by using rituximab, an anti-CD20 specific monoclonal antibody targeting B cells. Treatments targeting B cell mediated humoral immunity such as rituximab, may be a safe and appropriate choice for these challenging demyelinating cases, especially in Asian population.


Assuntos
Depleção Linfocítica , Esclerose Múltipla/complicações , Esclerose Múltipla/terapia , Neuromielite Óptica/complicações , Neuromielite Óptica/terapia , Adulto , Linfócitos B , Encéfalo/diagnóstico por imagem , Feminino , Humanos , Esclerose Múltipla/diagnóstico por imagem , Neuromielite Óptica/diagnóstico por imagem , Período Pós-Parto , Medula Espinal/diagnóstico por imagem
18.
IEEE/ACM Trans Comput Biol Bioinform ; 15(6): 1765-1773, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-28113635

RESUMO

High dimensional biomedical datasets contain thousands of features which can be used in molecular diagnosis of disease, however, such datasets contain many irrelevant or weak correlation features which influence the predictive accuracy of diagnosis. Without a feature selection algorithm, it is difficult for the existing classification techniques to accurately identify patterns in the features. The purpose of feature selection is to not only identify a feature subset from an original set of features [without reducing the predictive accuracy of classification algorithm] but also reduce the computation overhead in data mining. In this paper, we present our improved shuffled frog leaping algorithm which introduces a chaos memory weight factor, an absolute balance group strategy, and an adaptive transfer factor. Our proposed approach explores the space of possible subsets to obtain the set of features that maximizes the predictive accuracy and minimizes irrelevant features in high-dimensional biomedical data. To evaluate the effectiveness of our proposed method, we have employed the K-nearest neighbor method with a comparative analysis in which we compare our proposed approach with genetic algorithms, particle swarm optimization, and the shuffled frog leaping algorithm. Experimental results show that our improved algorithm achieves improvements in the identification of relevant subsets and in classification accuracy.


Assuntos
Algoritmos , Biologia Computacional/métodos , Computação em Informática Médica , Mineração de Dados , Bases de Dados Factuais , Humanos , Neoplasias/genética , Neoplasias/metabolismo
19.
Parkinsonism Relat Disord ; 47: 76-79, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29174172

RESUMO

BACKGROUND: Juvenile-onset parkinsonism is often caused by genetic factors. Mutations in several autosomal genes, including the F-box only protein 7 (FBXO7) gene, have been found in patients suffering from juvenile-onset parkinsonism with pyramidal signs. Only five types of FBXO7 mutations have been described. Here, we present a case report about a Chinese patient presenting with juvenile-onset parkinsonism likely caused by FBXO7 mutations. METHODS: The patient was a 32-year-old Chinese male. DNA samples were extracted from the patient and his parents. Exons in parkinsonism-related genes were amplified and sequenced. RESULTS: The patient began experiencing a progressive involuntary tremor in his left hand at 16 years of age, which was followed by the development of gait dysfunction, dysarthria, and rapid eye movement sleep behavior disorder. A neurological examination of the patient revealed cogwheel rigidity, bradykinesia, static and postural tremor and bilateral Babinski signs. The patient responded to dopaminergic therapies but was affected by psychiatric side effects. Further genetic analysis of the patient and his parents revealed compound heterozygous mutations of the FBXO7 gene (NM_012179.3) in the patient (a nonsense c.1408G > T (p.E470X) mutation and a missense c.152A > G (p.N51S) mutation coming from the patient's mother and father, respectively). CONCLUSIONS: This is the first case harboring FBXO7 mutations that presented with juvenile-onset parkinsonism in the Chinese population.


Assuntos
Proteínas F-Box/genética , Mutação/genética , Transtornos Parkinsonianos/genética , Transtornos Parkinsonianos/fisiopatologia , Adulto , Humanos , Masculino , Exame Neurológico
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