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1.
Neural Regen Res ; 17(4): 875-880, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34472488

RESUMO

The neutrophil-to-lymphocyte ratio (NLR) is considered a robust prognostic biomarker for predicting patient survival outcomes in many diseases. However, it remains unclear whether it can be used as a biomarker for amyotrophic lateral sclerosis (ALS). To correlate NLR with disease progression and survival in sporadic ALS, 1030 patients with ALS between January 2012 and December 2018 were included in this study. These patients were assigned into three groups according to their NLR values: Group 1 (NLR < 2, n = 544 [52.8%]), Group 2 (NLR = 2-3, n = 314 [30.5%]), and Group 3 (NLR > 3, n = 172 [16.7%]). All patients were followed up until April 2020. Patients in Group 3 had a significantly older onset age, a lower score on the Revised ALS Functional Rating Scale, and rapidly progressing disease conditions. Furthermore, faster disease progression rates were associated with higher NLR values (odds ratio = 1.211, 95% confidence interval [CI]: 1.090-1.346, P < 0.001) after adjusting for other risk factors. Compared with Groups 1 and 2, the survival time in Group 3 was significantly shorter (log-rank P = 0.002). The NLR value was considered an independent parameter for the prediction of survival in ALS patients after normalizing for all other potential parameters (hazard ratio [HR] = 1.079, 95% CI: 1.016-1.146, P = 0.014). The effects on ALS survival remained significant when adjusted for treatment (HR = 1.074, 95% CI: 1.012-1.141, Ptrend = 0.019) or when considering the stratified NLR value (HR = 1.115, 95% CI: 1.009-1.232, Ptrend = 0.033). Thus, the NLR may help to predict the rate of disease progression and survival in patients with sporadic ALS. The study was approved by the Institutional Ethics Committee of West China Hospital of Sichuan University, China (approval No. 2015 (236)) on December 23, 2015.

2.
J Med Genet ; 2021 Sep 20.
Artigo em Inglês | MEDLINE | ID: mdl-34544842

RESUMO

BACKGROUND: A large number of new causative and risk genes for amyotrophic lateral sclerosis (ALS) have been identified mostly in patients of European ancestry. In contrast, we know relatively little regarding the genetics of ALS in other ethnic populations. This study aims to provide a comprehensive analysis of the genetics of ALS in an unprecedented large cohort of Chinese mainland population and correlate with the clinical features of rare variants carriers. METHODS: A total of 1587 patients, including 64 familial ALS (FALS) and 1523 sporadic ALS (SALS), and 1866 in-house controls were analysed by whole-exome sequencing and/or testing for G4C2 repeats in C9orf72. Forty-one ALS-associated genes were analysed. FINDINGS: 155 patients, including 26 (40.6%) FALS and 129 (8.5%) SALS, carrying rare pathogenic/likely pathogenic (P/LP) variants of ALS causative genes were identified. SOD1 was the most common mutated gene, followed by C9orf72, FUS, NEK1, TARDBP and TBK1. By burden analysis, rare variants in SOD1, FUS and TARDBP contributed to the collective risk for ALS (p<2.5e-6) at the gene level, but at the allelic level TARDBP p.Gly294Val and FUS p.Arg521Cys and p.Arg521His were the most important single variants causing ALS. Clinically, P/LP variants in TARDBP and C9orf72 were associated with poor prognosis, in FUS linked with younger age of onset, and C9orf72 repeats tended to affect cognition. CONCLUSIONS: Our data provide essential information for understanding the genetic and clinical features of ALS in China and for optimal design of genetic testing and evaluation of disease prognosis.

4.
J Parkinsons Dis ; 11(4): 1845-1855, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34250953

RESUMO

BACKGROUND: Genetic studies have indicated that variants in several lysosomal genes are risk factors for idiopathic Parkinson's disease (PD). However, the role of lysosomal genes in PD in Asian populations is largely unknown. OBJECTIVE: This study aimed to analyze rare variants in lysosomal related genes in Chinese population with early-onset and familial PD. METHODS: In total, 1,136 participants, including 536 and 600 patients with sporadic early-onset PD (SEOPD) and familial PD, respectively, underwent whole-exome sequencing to assess the genetic etiology. Rare variants in PD were investigated in 67 candidate lysosomal related genes (LRGs), including 15 lysosomal function-related genes and 52 lysosomal storage disorder genes. RESULTS: Compared with the autosomal dominant PD (ADPD) or SEOPD cohorts, a much higher proportion of patients with multiple rare damaging variants of LRGs were found in the autosomal recessive PD (ARPD) cohort. At a gene level, rare damaging variants in GBA and MAN2B1 were enriched in PD, but in SCARB2, MCOLN1, LYST, VPS16, and VPS13C were much less in patients. At an allele level, GBA p. Leu483Pro was found to increase the risk of PD. Genotype-phenotype correlation showed no significance in the clinical features among patients carrying a discrepant number of rare variants in LRGs. CONCLUSION: Our study suggests rare variants in LRGs might be more important in the pathogenicity of ARPD cases compared with ADPD or SEOPD. We further confirm rare variants in GBA are involve in PD pathogenecity and other genes associated with PD identified in this study should be supported with more evidence.

5.
Mol Neurobiol ; 58(7): 3435-3442, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33723766

RESUMO

Functional and genetic studies have identified association between several Zinc finger (ZNF) proteins and Parkinson's disease (PD). However, most of them were still awaiting further replications, especially in the Asian population. Here, we systematically selected PD-relevant ZNF genes and analyzed the genetic associations between these ZNFs and PD in a large Chinese PD cohort. We identified rare variants (minor allele frequency < 0.01) in 743 unrelated patients with early-onset PD (EOPD, age at onset < 50 years) using whole exome sequencing and evaluated the association between rare variants and EOPD at both allele and gene levels. Totally 91 rare variants were identified in ZNF746, ZNF646, ZNF184, ZNF165, ZND219, and GLIS1. One variant p.R373H in ZNF219 and two variants p.G161D and p.R158H in ZNF746 were significantly associated with EOPD, and gene-based burden analysis showed enrichment of rare variants of ZNF746 in EOPD. Our findings build up the connection between ZNF746 and PD from a genetic perspective for the first time, supplement current understanding for the genetic role of ZNFs in EOPD, and broaden the mutation spectrum in PD.

6.
Mol Neurobiol ; 58(4): 1583-1592, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33219486

RESUMO

Recent genetic studies clearly indicate that variants in several lysosomal genes act as risk factors for idiopathic Parkinson's disease (PD). Variants in the co-activator of glucocerebrosidase gene (GBA) and the four active saposins (Sap A-D) which are encoded by the prosaposin gene (PSAP) are of particular interest; however, their genetic roles in PD are unknown. Whole-exome sequencing and Sanger sequencing were used to assess the genetic etiology of 400 autosomal dominant inherited PD (ADPD) and 300 sporadic PD (SPD) patients. Variants from public databases, including Genome Aggregation Database-East Asian (GnomAD_EAS) and Chinese Millionome Database (CMDB), were used as control groups. Burden analysis based on gene and domains level were performed to investigate the role of rare PSAP variants in PD. Six rare and likely pathogenic variants, located in the Sap A-D domains, were identified and accounted for 0.75% (3/400) of ADPD and 1.33% (4/300) of SPD in the Chinese population. Based on the gene or domain, burden analysis showed that damaging missense variants in SapC had statistical significance on the risk of developing PD. Interestingly, rs4747203, an intronic variant potentially linked to PSAP expression, was associated with reduced risk for PD (p = 8.6e-7 in GnomAD EAS and p = 0.002 in Chinese). Clinically, patients carrying the likely pathogenic variants presented typical PD motor symptoms and responded well to levodopa treatment. Six out of seven patients carrying the likely pathogenic variants of PSAP presented slow disease progression, and none of the patients developed cognitive impairment. Our study expands the spectrum of mutations associated with the risk of developing PD and enhances the understanding of the relationship of the clinical phenotype of PD with PSAP variants.

7.
Neural Regen Res ; 16(3): 591-595, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32985493

RESUMO

Creatine kinase is a muscle enzyme that has been reported at various levels in different studies involving patients with amyotrophic lateral sclerosis. In the present retrospective case-control study, we included 582 patients with amyotrophic lateral sclerosis and 582 age- and sex-matched healthy controls. All amyotrophic lateral sclerosis participants received treatment in the Department of Neurology, West China Hospital, China, between May 2008 and December 2018. Serum creatine kinase levels in patients with amyotrophic lateral sclerosis were significantly higher than those in healthy controls. Subgroup analysis revealed that serum creatine kinase levels in men were higher than those in women in both amyotrophic lateral sclerosis patients and healthy controls. Compared with patients with bulbar-onset amyotrophic lateral sclerosis, patients with limb-onset amyotrophic lateral sclerosis had higher creatine kinase levels. Spearman's correlation analysis revealed that serum creatine kinase levels were not correlated with body mass index, Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised score, or progression rate. After adjusting for prognostic covariates, higher log creatine kinase values were correlated with higher overall survival in the amyotrophic lateral sclerosis patients. We also investigated the longitudinal changes in serum creatine kinase levels in 81 amyotrophic lateral sclerosis patients; serum creatine kinase levels were decreased at the second blood test, which was sampled at least 6 months after the first blood test. Together, our results suggest that serum creatine kinase levels can be used as an independent factor for predicting the prognosis of amyotrophic lateral sclerosis patients. This study received ethical approval from the Ethics Committee of West China Hospital, China (approval No. 2015(236)) on December 23, 2015.

8.
Chin Med J (Engl) ; 134(6): 690-698, 2020 Nov 23.
Artigo em Inglês | MEDLINE | ID: mdl-33234871

RESUMO

BACKGROUND: Sleep disorders are common but under-researched symptoms in patients with multiple system atrophy (MSA). We investigated the frequency and factors associated with sleep-related symptoms in patients with MSA and the impact of sleep disturbances on disease severity. METHODS: This cross-sectional study involved 165 patients with MSA. Three sleep-related symptoms, namely Parkinson's disease (PD)-related sleep problems (PD-SP), excessive daytime sleepiness (EDS), and rapid eye movement sleep behavior disorder (RBD), were evaluated using the PD Sleep Scale-2 (PDSS-2), Epworth Sleepiness Scale (ESS), and RBD Screening Questionnaire (RBDSQ), respectively. Disease severity was evaluated using the Unified MSA Rating Scale (UMSARS). RESULTS: The frequency of PD-SP (PDSS-2 score of ≥18), EDS (ESS score of ≥10), and RBD (RBDSQ score of ≥5) in patients with MSA was 18.8%, 27.3%, and 49.7%, respectively. The frequency of coexistence of all three sleep-related symptoms was 7.3%. Compared with the cerebellar subtype of MSA (MSA-C), the parkinsonism subtype of MSA (MSA-P) was associated with a higher frequency of PD-SP and EDS, but not of RBD. Binary logistic regression revealed that the MSA-P subtype, a higher total UMSARS score, and anxiety were associated with PD-SP; that male sex, a higher total UMSARS score, the MSA-P subtype, and fatigue were associated with EDS; and that male sex, a higher total UMSARS score, and autonomic onset were associated with RBD in patients with MSA. Stepwise linear regression showed that the number of sleep-related symptoms (PD-SP, EDS, and RBD), disease duration, depression, fatigue, and total Montreal Cognitive Assessment score were predictors of disease severity in patients with MSA. CONCLUSIONS: Sleep-related disorders were associated with both MSA subtypes and the severity of disease in patients with MSA, indicating that sleep disorders may reflect the distribution and degree of dopaminergic/non-dopaminergic neuron degeneration in MSA.


Assuntos
Atrofia de Múltiplos Sistemas , Transtorno do Comportamento do Sono REM , Estudos Transversais , Humanos , Masculino , Índice de Gravidade de Doença , Sono
9.
J Nanosci Nanotechnol ; 8(3): 1178-82, 2008 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-18468120

RESUMO

Water-soluble CdSe nanocrystals were synthesized in a new alkali system at lower temperatures by using L-cysteine hydrochloride as a stabilizer and Na2SeSO3 as a selenium source to enable the synthesis of CdSe nanocrystals in a wider range of pH values. The CdSe nanocrystal powder was characterized by X-ray powder diffraction, X-ray photoelectron spectroscopy, Fourier transform infrared spectroscopy, and transmission electron microscopy. We systematically investigated the effect of synthesis conditions on the optical properties of the L-cysteine hydrochloride-stabilized CdSe nanocrystals, and found that different sizes of CdSe nanocrystals can be obtained by changing the pH value, the molar ratio of L-cysteine hydrochloride to Cd2+, or the refluxing time. The emission maxima of the obtained CdSe nanocrystals can be tuned in a wider range from 477 to 575 nm by changing the pH value from 7 to 13. We observed an obvious blue-shift of the absorption and photoluminescence peak position by varying the molar ratio of L-Cys to Cd2+ from 3.5:1 to 2:1 at the same pH value. The size of the obtained nanocrystals increased and the full width at half maximum became narrower as reflux time increased. Transmission electron microscopy images indicate that the as-prepared CdSe nanocrystals have a good dispersion, which means that L-cysteine hydrochloride can control the grouping of CdSe nanocrystals excellently as a stabilizer in the new alkali system.

10.
Guang Pu Xue Yu Guang Pu Fen Xi ; 27(7): 1276-8, 2007 Jul.
Artigo em Chinês | MEDLINE | ID: mdl-17944393

RESUMO

Polymer light-emitting diodes(PLEDs) devices based on MEH-PPV were fabricated. The performance of PLEDs device with inserting insulating layer PEO nserted between the metal cathode and emissive polymer was enhanced. Furthermore, when cathode Al was modified by PEO/LiF, the threshold, the luminescence intensity, the efficiency and stability of the device were improved significantly. Experiment results show that the improvement of the device performance is caused by the introduction of PEO. The PEO between the metal cathode and emissive polymer works as the carrier barrier for carriers, and the injection of holes is restrained by the accumulation of holes on the surface. Meanwhile, electron injection is enhanced, and the dissociation of exciton is reduced.

11.
Guang Pu Xue Yu Guang Pu Fen Xi ; 27(3): 420-2, 2007 Mar.
Artigo em Chinês | MEDLINE | ID: mdl-17554888

RESUMO

In the present paper, polymer-based light-emitting diode employing N-vinylcarbazole (PVK) doped with dilute phosphorescent dye factris-(2-phenylpyridine) iridium [Ir(ppy)3] and fluorescent dye 4-(dicyanomethylene)-2-t-butyl-6-(1,1,7,7-tetramethyljulolidyl-9-enyl)-4H-pyran (DCJTB) as active layer was fabricated in order to compare the formation cross-sections of triplet exciton and singlet exciton. According to the changes in the electroluminescence (EL) spectrum and the relative intensity of photoluminescence (PL) spectrum, we deduce that the exciton formation cross-section of Ir(ppy)3 is larger than that of DCJTB.

12.
Guang Pu Xue Yu Guang Pu Fen Xi ; 26(4): 597-600, 2006 Apr.
Artigo em Chinês | MEDLINE | ID: mdl-16836117

RESUMO

A series of YLiF4: Er3+ , Tm3+ , Yb3+ samples were synthesized by hydrothermal method. The concentrations of Er+ and Yb3+ were 1 mol% and 1.5 mol%, respectively. Tm3+ concentration changed from 2 to 8 mol%. The absorption of Er3+, Tm3+ and Yb3+ were observed, and the absorption of Tm3+ increased along with the increase in Tm3+ concentration. The color of upconversion luminescence of YLiF4: Er3+, Tm3+ and Yb3+ excited by 980 nm was white when Tm3+ concentration was low. The blue light resulted from the transition of 1G4-->3H6 of Tm3+, the green light from the transition of 4S(3/2)(2H(11/2))-->4I(15/2) of Er3+, and the red light from the transitions 1G4-->3F4 of Tm3+ and 4F(9/2)-->4I(15/2) of Er3+. All the upconversion intensities decreased when Tm3+ concentration increased, but the relative intensity decrease was different due to the interaction between Er3+ and Tm3+.

13.
Guang Pu Xue Yu Guang Pu Fen Xi ; 25(6): 811-4, 2005 Jun.
Artigo em Chinês | MEDLINE | ID: mdl-16201346

RESUMO

The energy transfer between PVK and TPB in PVK:TPB thin film in different concentrations was studied by emission spectra, excitation spectra, and absorption spectra. It is proved that the energy can be transfered from PVK to TPB in a wide concentration range and the transfer is most efficient at the concentration of 5% wt. A model Hamitonian based on a single chain model including the dopant was proposed to simulate the experiment. This model can be used to explain the experimental results very well.

14.
Guang Pu Xue Yu Guang Pu Fen Xi ; 25(6): 819-23, 2005 Jun.
Artigo em Chinês | MEDLINE | ID: mdl-16201348

RESUMO

YLiF4 codoped with Er3+, Tm3+ and Yb3+ ions was synthesized by hydrothermal method. The absorption spectra and upconversion spectra excited at 980 nm were investigated. Under the excitation of infrared photons, strong white emission can be obtained. According to the value of n obtained from the power law, the 484 nm blue emission, 524 and 552 nm green emission, and 665 nm red emission are all due to two photon process, while the UV emission is attributed to three photon process. The authors also analyzed the upconversion mechanism and process.

15.
Guang Pu Xue Yu Guang Pu Fen Xi ; 25(7): 1030-3, 2005 Jul.
Artigo em Chinês | MEDLINE | ID: mdl-16241047

RESUMO

The photoluminescence of polyfluorene thin film modulated by an electric field are studied. The results show that the photoluminescence from polyfluorene film can obviously quenched by the extra electric field, which is attributed to the electric field-induced dissociation of photogeneration excitons. The dependence of the exciton dissociation rate constant on the intensity of electric filed is fitted. The average hopping distance of element charge is 0.68 nm in PFO. This volume is comparable with the reported results in Alq3 and polymers. The spectral dependence of the factor of EFIQP is given. The dissociation of hot-exciton is deduced, which influences on the spectral dependence of the EFIQP factor slightly.


Assuntos
Fluorenos/química , Luminescência , Polímeros/química , Espectrometria de Fluorescência/métodos , Algoritmos , Eletricidade , Técnicas Eletroquímicas/instrumentação , Técnicas Eletroquímicas/métodos , Espectrometria de Fluorescência/instrumentação , Temperatura
16.
Guang Pu Xue Yu Guang Pu Fen Xi ; 24(8): 918-21, 2004 Aug.
Artigo em Chinês | MEDLINE | ID: mdl-15766107

RESUMO

Photoconductive devices with organic (polyvinylcarbazole-PVK)/inorganic (zinc-sulfide--ZnS) thin-film heteropairing were fabricated. In external field, the excitation profile of the steady-state photoconductivity and the primary photoexcitation process of hybrid devices were presented and discussed. Comparison of photoconductivity of the devices and absorption spectra of PVK and ZnS implied that both layers absorption contributes to the photocurrent, but the effective part is at the interface of PVK and ZnS. The dependence of maximum photocurrent on the applied voltage and the dark and illuminated current spectra indicates the ultrafast charge transfer at the interface.


Assuntos
Eletroquímica/métodos , Nanotecnologia/métodos , Fotoquímica/educação , Sulfetos/química , Compostos de Zinco/química , Desenho de Equipamento/instrumentação , Modelos Químicos , Filmes Cinematográficos , Nanoestruturas , Fotoquímica/economia , Propriedades de Superfície
17.
Guang Pu Xue Yu Guang Pu Fen Xi ; 24(5): 519-23, 2004 May.
Artigo em Chinês | MEDLINE | ID: mdl-15769035

RESUMO

The luminescence properties of a new kind of rare earth complex Tb(m-benzoicacid)3 were studied. With the new complex as the dopant and PVK as the host, the film of the mixed system was made, from whose spectra the authors learned that a highly efficient energy transfer process exists. The energy transfer is related to the mass proportion, and the more the mass proportion of Tb in the doped system, the more the emission proportion, and at the same time the emission of PVK is relatively weak. When the mass proportion of Tb(m-benzoicacid)3:PVK is higher than 20%, the emission of Tb is stronger than that of PVK, and plays the main role, while the emission of PVK disappears. The authors used the PVK:Tb(m-benzoicacid)3 system as the emission layer and Alq as the electron-transfer layer, thus the device, whose structure is ITO/PVK:Tb(m-benzoicacid)3/Alq/LiF/Al was formed. From the spectrum of this device, the characteristic emission of Tb can be observed. At the bias voltage of 21 V, a brightness 311 cd x m(-2) was achieved.

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