Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 9 de 9
Filtrar
1.
Front Neurosci ; 15: 768427, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34938156

RESUMO

Background: While a cochlear implant (CI) can restore access to audibility in deaf children, implanted children may still have difficulty in concentrating. Previous studies have revealed a close relationship between sensory gating and attention. However, whether CI children have deficient auditory sensory gating remains unclear. Methods: To address this issue, we measured the event-related potentials (ERPs), including P50, N100, and P200, evoked by paired tone bursts (S1 and S2) in CI children and normal-hearing (NH) controls. Suppressed amplitudes for S2 compared with S1 in these three ERPs reflected sensory gating during early and later phases, respectively. A Swanson, Nolan, and Pelham IV (SNAP-IV) scale was performed to assess the attentional performance. Results: Significant amplitude differences between S1 and S2 in N100 and P200 were observed in both NH and CI children, indicating the presence of sensory gating in the two groups. However, the P50 suppression was only found in NH children and not in CI children. Furthermore, the duration of deafness was significantly positively correlated with the score of inattention in CI children. Conclusion: Auditory sensory gating can develop but is deficient during the early phase in CI children. Long-term auditory deprivation has a negative effect on sensory gating and attentional performance.

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.

3.
Chem Biodivers ; 18(2): e2000856, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33295037

RESUMO

Dioscorea polystachya, named Chinese yam, is widely cultivated as a functional food and natural medicine in China. There is currently little information about the chemical characteristics of Dioscorea polystachya in different organs (tuber cortex and tuber flesh) and at various ages. In this study, an ultra-high-performance liquid chromatography coupled to quadrupole time-of-flight mass spectrometry (UPLC-QTOF/MS) was used to profile chemical compounds in Dioscorea polystachya. As a result, thirty-eight compounds were detected in yam tuber cortex and tuber flesh. More compounds were detected in yam tuber cortex than in tuber flesh. Compounds such as dehydroepiandrosterone, allantoin and flavonoids were selected as biomarker candidates. Dehydroepiandrosterone was found more abundant in tuber flesh, while allantoin and flavonoids showed higher levels in tuber cortex. Furthermore, the levels of dioscin, malvalic acid and sucrose differed significantly among age groups and were highest in the tubers at 2 years. While the levels of allantoin, adenosine and glutamine increased with the growing years and were highest at 4 years. Thus, 2-year old Dioscorea polystachya tubers could be harvested to prepare dioscin, malvalic acid and sucrose supplements. The 4-year-old Dioscorea polystachya tubers would be the best choice for obtaining a large amount of allantoin and adenosine in industrial production.


Assuntos
Dioscorea/química , Tubérculos/química , Alantoína/análise , Cromatografia Líquida de Alta Pressão/métodos , Desidroepiandrosterona/análise , Dioscorea/crescimento & desenvolvimento , Flavonoides/análise , Espectrometria de Massas/métodos , Tubérculos/crescimento & desenvolvimento
4.
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
5.
Cancer Biomark ; 21(2): 471-477, 2018 Feb 06.
Artigo em Inglês | MEDLINE | ID: mdl-29226858

RESUMO

OBJECTIVE: This study aims to investigate the clinical significance of serum Smac, HE4 and CA125 alone or combined for detecting endometriosis-associated ovarian cancer (EAOC). METHODS: The level of serum Smac, HE4 and CA125 in 40 healthy controls, 40 cases of benign endometriosis ovarian tumor, and 60 cases of EAOC were detected by ELISA and electrochemical immune method. RESULTS: Serum Smac expression level was significantly lower in the EAOC group than in the control group and benign ovarian tumor group (P< 0.05), while HE4 and CA125 expression levels were significantly higher in the EAOC group than the other two groups. The sensitivity of Smac single detection was up to 91.67%, and the specificity of HE4 was up to 98.75%. Furthermore, the sensitivity of Smac + HE4 + CA125 combined was the highest, which reached up to 98.33%; but the specificity was low, which reached up to 75%. The serum expression level differences before and after surgery were statistically significant. As the number of chemotherapies increases, the Smac level increased, and HE4 and CA125 levels gradually decreased. Furthermore, Smac increased to normal at the end of the 2nd period of chemotherapy, while HE4 and CA125 decreased to normal in 2nd and 3rd period of chemotherapy, respectively. CONCLUSION: Serum Smac, HE4 and CA125 may play an important role in predicting EAOC and in monitoring the prognosis of postoperative EAOC.


Assuntos
Antígeno Ca-125/sangue , Endometriose/sangue , Peptídeos e Proteínas de Sinalização Intracelular/sangue , Proteínas Mitocondriais/sangue , Neoplasias Ovarianas/sangue , Proteínas/metabolismo , Adolescente , Adulto , Proteínas Reguladoras de Apoptose , Estudos de Casos e Controles , Endometriose/patologia , Feminino , Humanos , Pessoa de Meia-Idade , Neoplasias Ovarianas/patologia , Proteína 2 do Domínio Central WAP de Quatro Dissulfetos , Adulto Jovem
6.
Cancer Immunol Immunother ; 67(3): 471-481, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29214427

RESUMO

The goal of this study is to evaluate PD-L1 prevalence and its association with major clinical characteristics in Chinese non-small cell lung cancer (NSCLC) patients to inform the clinical development of anti-PD1/PD-L1 agents in this population. We used phosphatase and tensin homolog (PTEN) expression through IHC as a surrogate tissue quality marker to screen surgical NSCLC samples in tissue microarray (TMA; 172 cases) or whole-section (268 cases) format. The samples were then analyzed with a clinically validated PD-L1 IHC assay. The results were correlated with baseline characteristics and clinical outcomes. PTEN IHC showed that 108 TMA samples and 105 whole-section samples qualified for PD-L1 IHC. With a clinically relevant cutoff, 41.7% of the TMA samples were PD-L1 positive. PD-L1 level was much lower in EGFR-mutant patients and seemed to be a favorable prognostic factor for both overall survival (OS) and recurrence-free survival (RFS). These findings were confirmed in the whole-section samples except that their survival data were not mature enough for correlation analysis. In summary, PD-L1 expression was detected in approximately 40% of PTEN-qualified Chinese NSCLC samples, negatively correlated with EGFR mutation and seemed to be a favorable prognostic factor for both OS and RFS. Notably, the different results from PTEN-qualified and PTEN-disqualified samples underscore the importance of tissue quality control prior to biomarker testing.


Assuntos
Antígeno B7-H1/metabolismo , Biomarcadores Tumorais/análise , Carcinoma Pulmonar de Células não Pequenas/diagnóstico , Neoplasias Pulmonares/diagnóstico , Mutação , PTEN Fosfo-Hidrolase/genética , Análise Serial de Tecidos/normas , Idoso , Carcinoma Pulmonar de Células não Pequenas/genética , Carcinoma Pulmonar de Células não Pequenas/metabolismo , Estudos de Coortes , Detecção Precoce de Câncer , Feminino , Seguimentos , Humanos , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/metabolismo , Masculino , Pessoa de Meia-Idade , Prognóstico , Taxa de Sobrevida
7.
Zhong Yao Cai ; 39(8): 1692-5, 2016 Jul.
Artigo em Chinês | MEDLINE | ID: mdl-30204370

RESUMO

Objective: To explore the relationship between the laccase activity and growth of Ganoderma spp.,to screen the highproducing laccase strains. Methods: The mycelium was cultured in PDA solid medium,and the laccase activity was measured by ABTS+method. The content of polysaccharide was determined by phenol sulfuric acid method. Results: Ganoderma gibbosum grew more rapidly in the early stage,and the laccase activity reached maximum( 1 476. 64 U/g) in the 4th day,which was 11. 37 times larger than that of sweet Ganoderma lucidum. Ganoderma gibbosum had the significant advantage after a comprehensive analysis. The polysaccharide content of Ganoderma lucidum of Shinshu was lower; the growth rate of Ganoderma lucidum strain S3 was stable, and the content of polysaccharide was medium. Conclusion: There are some differences in the growth rate of Ganoderma spp., and there is a certain correlation between the laccase activity and growth. Ganoderma gibbosum is the highest-producing laccase strain among the screening strains.

8.
Int J Cardiol ; 168(3): 2109-19, 2013 Oct 03.
Artigo em Inglês | MEDLINE | ID: mdl-23410488

RESUMO

BACKGROUND: Heart failure (HF) is approaching an epidemic proportion and has become one of the leading causes of death. It imposes a great burden on the healthcare system and society. Remodeling of cardiomyocyte membranes has a profound role in the pathogenesis of HF. However, whether dynamin (DNM), a membrane-remodeling GTPase, is associated with HF remains unclear. METHODS AND RESULTS: Here, we identified that DNM2 is necessary for the maintenance of cardiac function. Endogenous DNM2 protein levels were gradually decreased in parallel with the progression of HF in different experimental animal models. Decreased DNM2 level was also observed in the end-stage failing human heart. DNM2-deficient zebrafish exhibited signs of notable cardiac apoptosis and eventually developed severe HF. Mechanistic study showed that DNM2 downregulation caused cardiomyocyte sarcoplasmic reticulum Ca(2+) overload and subsequent mitochondria-dependent apoptosis. These events were preceded by enhanced membrane translocation of the L-type Ca(2+) channel due to DNM2 deficiency-mediated membrane trafficking dysfunction. Furthermore, prevention of cardiomyocyte Ca(2+)-mishandling largely ameliorated the DNM2 deficiency-associated cardiomyocyte apoptosis and HF. CONCLUSIONS: DNM2 mediates HF by modulating Ca(2+)-dependent apoptotic death of cardiomyocyte. The finding may shed light on the new strategy of HF treatment.


Assuntos
Apoptose , Canais de Cálcio Tipo L/metabolismo , Cálcio/metabolismo , DNA/genética , Dinamina II/genética , Insuficiência Cardíaca/genética , Miócitos Cardíacos/ultraestrutura , Animais , Western Blotting , Modelos Animais de Doenças , Dinamina II/biossíntese , Insuficiência Cardíaca/metabolismo , Insuficiência Cardíaca/patologia , Humanos , Marcação In Situ das Extremidades Cortadas , Microscopia Eletrônica de Transmissão , Mitocôndrias Cardíacas/metabolismo , Mitocôndrias Cardíacas/ultraestrutura , Miócitos Cardíacos/metabolismo , Ratos , Ratos Sprague-Dawley , Reação em Cadeia da Polimerase em Tempo Real , Retículo Sarcoplasmático/metabolismo , Retículo Sarcoplasmático/ultraestrutura , Peixe-Zebra/embriologia
9.
Biochem Biophys Res Commun ; 427(1): 73-9, 2012 Oct 12.
Artigo em Inglês | MEDLINE | ID: mdl-22975349

RESUMO

Cyclic adenosine 3',5'-monophosphate (cAMP), which is synthesized by adenylyl cyclase (AC) and degraded by phosphodiesterase (PDE), plays crucial roles in the regulation of multiple cellular functions and physiological processes. Prolyl hydroxylase domain (PHD) proteins, which belong to a family of dioxygenases that function as oxygen sensors through their hydroxylation activity, have been implicated in multiple signaling pathways. Here, we aimed to determine whether PHD played a role in regulating intracellular cAMP level in cardiomyocytes. Through the overexpression/knockdown of the PHD gene and the measurement of the cAMP content, we found that PHD2, but not PHD1 or PHD3, acts as a regulator of intracellular cAMP. In neonatal rat cardiomyocytes and H9c2 cells, the overexpression of PHD2 increased the intracellular cAMP level, whereas the PHD2 knockdown reduced it. There was no alteration in the AC expression or activity in cells that overexpressed or downregulated PHD2. The overexpression of PHD2 decreased both the protein expression and the activity of phosphodiesterase 4D (PDE4D), whereas the PHD2 knockdown increased the PDE4D expression and activity. Co-immunoprecipitation experiments revealed a direct binding between PHD2 and PDE4D and liquid chromatography-tandem mass spectrometry analyses identified the specific hydroxylation sites on PDE4D. In conclusion, PHD2 may directly interact with PDE4D to function as a novel regulator of the intracellular cAMP levels in cardiomyocytes.


Assuntos
AMP Cíclico/metabolismo , Nucleotídeo Cíclico Fosfodiesterase do Tipo 4/metabolismo , Miócitos Cardíacos/metabolismo , Pró-Colágeno-Prolina Dioxigenase/metabolismo , Animais , Linhagem Celular , Regulação para Baixo , Humanos , Prolina Dioxigenases do Fator Induzível por Hipóxia , Miócitos Cardíacos/enzimologia , Complexo de Endopeptidases do Proteassoma/metabolismo , Ratos
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...