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1.
Int J Ophthalmol ; 13(7): 1054-1059, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32685391

RESUMO

AIM: To reveal a novel MITF gene mutation in Waardenburg syndrome (WS), which is an autosomal dominant inherited neurogenic disorder that consists of various degrees of sensorineural deafness and pigmentary abnormalities in the eyes, hair and skin. METHODS: The genetic analysis of the Chinese family was conducted by whole-exome sequencing, then the results were confirmed by Sanger sequencing. RESULTS: WS is classified into type I to IV, which are identified by the W index, clinical characteristics and additional features. The MITF gene mostly accounts for WS type II. In this study, a de novo heterozygous mutation in the MITF gene, c.638A>G in exon 7, was identified in the patient diagnosed with WS type I features, as the W index was 2.17 (over 2.10), with dystrophia canthorum, congenital bilateral profound hearing loss, bilateral heterochromia irides, premature greying of the hair, and excessive freckling on the face at birth. She also underwent refractive errors and esotropia, reduced pigmentation of the choroid and visible choroid vessels. The mutation was not found in previous studies or mutation databases. CONCLUSION: The novel mutation in the MITF gene, which altered the protein in amino acids 213 from the glutamic acid to glycine, is the genetic pathological cause for WS features in the patient. Those characteristics of this family revealed a novel genetic heterogeneity of MITF in WS, which expanded the database of MITF mutations and offered a possible in correcting the W index value of WS in distinct ethnicities. Moreover, ocular symptoms should be emphasized in all types of WS patients.

2.
Int J Ophthalmol ; 13(3): 374-381, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32309172

RESUMO

AIM: To explore the susceptible association between the insulin-like growth factor-1 receptor (IGF1R) single nucleotide polymorphism (SNP) and age-related cataract (ARC), and investigate the underlying mechanisms in human lens epithelium (HLE) cells. METHODS: Totally 1190 unrelated participants, comprising 690 ARC patients and 500 healthy individuals in Han Chinese population were recruited and genotyped for target SNP. The χ 2-test was used to detect genotypic distribution between the patient and control groups and the logistic regression was performed to adjust the age and gender. Meanwhile, different biological experimental methods, such as cell counting kit 8 (CCK-8) assay, flow cytometry, quantitative real time polymerase chain reaction (Q-PCR) and Western blot, were used to detect cell viability, cell cycle progression and apoptosis in HLE cells or IGF1R knockdown HLE cells. RESULTS: The rs1546713 in IGF1R gene was identified (P=0.046, OR: 1.606, 95%CI: 1.245-2.071), which shown a significant relevance with ARC risk under the dominant model. The results demonstrated that IGF1R knockdown inhibited cell proliferation by inducing cell cycle arrested at S phase and promoting apoptosis. Mechanistically, the cell cycle blocked at S phase was linked with the alterations of cyclin A, cyclin B, cyclin E and P21. The pro-apoptosis function of IGF1R may related with stimulating the activation of Caspase-3 and altering the expression levels of apoptotic proteins, including Bcl-2, Bax and Caspase-3. CONCLUSION: This study first report that IGF1R polymorphisms may affect susceptibility to ARCs in Han Chinese population and provide new clues to understand the pathogenic mechanism of ARCs. Notably, IGF1R is likely a potential target for ARC prevention and treatment.

3.
Int J Ophthalmol ; 12(6): 1008-1011, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31236361

RESUMO

AIM: To determine the association of gap junction protein alpha 3 (GJA3) gene tag single-nucleotide polymorphisms (SNPs) with susceptibility to age-related cataract (ARC). METHODS: In total, 486 ARC patients were matched with 500 healthy controls. All the participants underwent complete ophthalmic examinations. Haplotype-tagging SNPs of GJA3 gene were selected from the HapMap Beijing Han Chinese population. Genomic DNA was extracted from the peripheral blood leukocytes of all the subjects. Under three different genetic models: dominant, recessive, and additive, the association between SNPs and ARC was examined. After adjusting for age and sex, the genetic effects of the GJA3 SNPs were evaluated with logistic regression analysis. RESULTS: Four tag GJA3 SNPs (rs6490519, rs9506430, rs9509053, and rs9552089) were included in the present study. None of the SNPs showed a significant relationship with an altered risk of total ARC under the dominant, recessive, or additive models. In the subgroup analysis, rs9506430 had a significant effect on the formation of a posterior subcapsular cataract (P=0.002, OR: 0.227, 95%CI: 0.088-0.590) under the recessive model. CONCLUSION: Our study indicates that GJA3 variants may influence the development of posterior subcapsular cataracts. Further studies need to be designed to confirm this possibility.

4.
Brain Imaging Behav ; 13(4): 985-994, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29956102

RESUMO

Converging evidence has shown the link between benign epilepsy with centrotemporal spikes (BECTS) and abnormal functional connectivity among distant brain regions. However, prior research in BECTS has not examined the dynamic changes in functional connectivity as networks form. We combined functional connectivity density (FCD) mapping and sliding windows correlation analyses, to fully capture the functional dynamics in patients with respect to the presence of interictal epileptic discharges (IEDs). Resting-state fMRI was performed in 43 BECTS patients and 28 healthy controls (HC). Patients were further classified into two subgroups, namely, IED (n = 20) and non-IED (n = 23) depending on the simultaneous EEG-fMRI recordings. The global dynamic FCD (dFCD) was measured using sliding window correlation. Then we quantified dFCD variability using their standard deviation. Compared with HC, patients with and without IEDs both showed invariable dFCD (decreased) among the orbital fontal cortex, anterior cingulate cortex and striatum, as well as variable dFCD (increased) in the posterior default mode network (P < 0.05, AlphaSim corrected). Correlation analysis indicated that the variable dFCD in precuneus was related to seizure onset age (P < 0.05, uncorrected). BECTS with IEDs showed variable dFCD in regions related to the typical seizure semiology. The abnormal patterns of fluctuating FCD in BECTS suggest that both active and chronic epileptic state may contribute to altered dynamics of functional connectivity associated with cognitive disturbances and developmental alterations. These findings highlight the importance of considering fluctuating dynamic neural communication among brain systems to deepen our understanding of epilepsy diseases.


Assuntos
Epilepsia do Lobo Frontal/fisiopatologia , Epilepsia Rolândica/fisiopatologia , Vias Neurais/fisiopatologia , Encéfalo/fisiopatologia , Mapeamento Encefálico/métodos , Córtex Cerebral/fisiopatologia , Criança , Corpo Estriado/fisiopatologia , Eletroencefalografia/métodos , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Testes Neuropsicológicos , Descanso
5.
Int J Ophthalmol ; 11(1): 12-17, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29375984

RESUMO

AIM: To explore the effect of parthenolide on hydrogen peroxide (H2O2)-induced apoptosis in human lens epithelial (HLE) cells. METHODS: The morphology and number of apoptotic HLE cells were assessed using light microscopy and flow cytometry. Cell viability was tested by MTS assay. In addition, the expression of related proteins was measured by Western blot assay. RESULTS: Apoptosis of HLE cells was induced by 200 µmol/L H2O2, and the viability of these cells was similar to the half maximal inhibitory concentration (IC50), as examined by MTS assay. In addition, cells were treated with either different concentrations (6.25, 12.5, 25 and 50 µmol/L) of parthenolide along with 200 µmol/L H2O2 or only 50 µmol/L parthenolide or 200 µmol/L H2O2 for 24h. Following treatment with higher concentrations of parthenolide (50 µmol/L), fewer HLE cells underwent H2O2-induced apoptosis, and cell viability was increased. Further, Western blot assay showed that the parthenolide treatment reduced the expression of caspase-3 and caspase-9, which are considered core apoptotic proteins, and decreased the levels of phosphorylated nuclear factor-κB (NF-κB), ERK1/2 [a member of the mitogen-activated protein kinase (MAPK) family], and Akt proteins in HLE cells. CONCLUSION: Parthenolide may suppress H2O2-induced apoptosis in HLE cells by interfering with NF-κB, MAPKs, and Akt signaling.

6.
Hum Brain Mapp ; 39(3): 1207-1217, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29206330

RESUMO

Benign epilepsy with centrotemporal spikes (BECTS) is characterized by abnormal (static) functional interactions among cortical and subcortical regions, regardless of the active or chronic epileptic state. However, human brain connectivity is dynamic and associated with ongoing rhythmic activity. The dynamic functional connectivity (dFC) of the distinct striato-cortical circuitry associated with or without interictal epileptiform discharges (IEDs) are poorly understood in BECTS. Herein, we captured the pattern of dFC using sliding window correlation of putamen subregions in the BECTS (without IEDs, n = 23; with IEDs, n = 20) and sex- and age-matched healthy controls (HCs, n = 28) during rest. Furthermore, we quantified dFC variability using their standard deviation. Compared with HCs and patients without IEDs, patients with IEDs exhibited excessive variability in the dorsal striatal-sensorimotor circuitry related to typical seizure semiology. By contrast, excessive stability (decreased dFC variability) was found in the ventral striatal-cognitive circuitry (p < .05, GRF corrected). In addition, correlation analysis revealed that the excessive variability in the dorsal striatal-sensorimotor circuitry was related to highly frequent IEDs (p < .05, uncorrected). Our finding of excessive variability in the dorsal striatal-sensorimotor circuitry could be an indication of increased sensitivity to regional fluctuations in the epileptogenic zone, while excessive stability in the ventral striatal-cognitive circuitry could represent compensatory mechanisms that prevent or postpone cognitive impairments in BECTS. Overall, the differentiated dynamics of the striato-cortical circuitry extend our understanding of interactions among epileptic activity, striato-cortical functional architecture, and neurocognitive processes in BECTS.


Assuntos
Córtex Cerebral/fisiopatologia , Corpo Estriado/fisiopatologia , Epilepsia Rolândica/fisiopatologia , Mapeamento Encefálico , Córtex Cerebral/diagnóstico por imagem , Criança , Corpo Estriado/diagnóstico por imagem , Eletroencefalografia , Epilepsia Rolândica/diagnóstico por imagem , Epilepsia Rolândica/tratamento farmacológico , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Imagem Multimodal , Vias Neurais/diagnóstico por imagem , Vias Neurais/fisiopatologia
7.
Int J Neural Syst ; 27(7): 1750018, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28359223

RESUMO

Benign epilepsy with centrotemporal spikes (BECTS) is a common childhood epilepsy syndrome associated with abnormalities in neurocognitive domains, particularly during interictal epileptiform discharges (IEDs). Here, we investigated the effects of IEDs on brain's intrinsic connectivity networks in 43 BECTS patients and 28 matched healthy controls (HCs). Patients were further divided into IED and non-IED subgroups based on simultaneous EEG-fMRI recordings. Functional connectivity within and between five networks, corresponding to seizure origination and cognitive processes, were analyzed to measure IED effects. We found that patients exhibited increased connectivity within the auditory network (AN) and the somato-motor network (SMN), and decreased connectivity within the basal ganglia network and the dorsal attention network, suggesting that both transient and chronic seizure activity may disturb normal network organization. The IED group showed decreased functional connectivity within the default mode network (DMN) compared with the non-IED group and HCs, implying that the DMN was selectively impaired during epileptiform discharges associated with altered self-referential cognitive functions. Moreover, the IED group exhibited increased positive correlations between the AN and the SMN, which suggests a possible excessive influence of centrotemporal spiking on information processing in the auditory system. The association between epileptic activity and network dysfunctions highlights their importance in investigating the pathological mechanism underlying BECTS.


Assuntos
Mapeamento Encefálico , Ondas Encefálicas/fisiologia , Encéfalo/fisiopatologia , Epilepsia Rolândica/patologia , Epilepsia Rolândica/fisiopatologia , Vias Neurais/fisiopatologia , Adolescente , Anticonvulsivantes/uso terapêutico , Estudos de Casos e Controles , Criança , Simulação por Computador , Eletroencefalografia , Epilepsia Rolândica/diagnóstico por imagem , Epilepsia Rolândica/tratamento farmacológico , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Imageamento por Ressonância Magnética , Masculino , Modelos Neurológicos , Vias Neurais/diagnóstico por imagem , Testes Neuropsicológicos , Oxigênio/sangue , Estatísticas não Paramétricas
8.
Seizure ; 45: 102-106, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-27984807

RESUMO

PURPOSE: Glioneuronal tumors (GNTs) are the most common histological type of brain tumors in patients who received epilepsy surgery, and part of them presented with BRAF V600E mutation. We aimed to verify the presence of the BRAF V600E mutation in epilepsy-associated GNTs from Chinese population and evaluate the association with clinical features. METHODS: Data from 35 patients diagnosed with GNTs, including 24 gangliogliomas and 11 dysembryoplastic neuroepithelial tumors, were retrospectively collected. DNA was extracted from GNTs tissues and BRAF V600E mutation was examined by DNA sequencing. The correlations between BRAF V600E mutation and clinical features were analyzed. RESULTS: Totally, BRAF V600E mutations were detected in 11 patients with GNTs, the rate of mutation were 33.3% and 27.3% in GGs (8/24) and DNTs (3/11), respectively. The probability of BRAF V600E mutation in females (7/12, 58.3%) was significantly higher than that in males (4/23, 17.4%) (P=0.022). Moreover, patients with BRAF-mutated GNTs had a significantly wider variety of seizure types compared to GNTs with BRAF wild-type status (P=0.027). However, no significant correlation between the BRAF status and certain clinical features, such as age of seizure onset, duration of epilepsy, age at surgery, location of the tumor and postoperative seizure free, were observed. CONCLUSION: We demonstrated the presence of BRAF V600E mutation in Chinese epileptic patients with GNTs, which was significantly correlated with gender and multiple seizure types. Large sample studies and long-term follow-up are required for further confirmation.


Assuntos
Neoplasias Encefálicas , Epilepsia , Glioma , Polimorfismo de Nucleotídeo Único/genética , Proteínas Proto-Oncogênicas B-raf/genética , Adolescente , Adulto , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Neoplasias Encefálicas/complicações , Neoplasias Encefálicas/epidemiologia , Neoplasias Encefálicas/genética , Criança , Pré-Escolar , China/epidemiologia , Estudos de Coortes , Eletroencefalografia , Epilepsia/epidemiologia , Epilepsia/etiologia , Epilepsia/genética , Feminino , Glioma/complicações , Glioma/epidemiologia , Glioma/genética , Ácido Glutâmico/genética , Humanos , Masculino , Pessoa de Meia-Idade , Estatística como Assunto , Estatísticas não Paramétricas , Valina/genética , Adulto Jovem
9.
Radiology ; 283(1): 186-194, 2017 04.
Artigo em Inglês | MEDLINE | ID: mdl-27631414

RESUMO

Purpose To investigate the functional connectome alterations in benign epilepsy with centrotemporal spikes with respect to the occurrence of interictal epileptic discharges (IEDs) during functional magnetic resonance (MR) imaging. Materials and Methods This prospective study was approved by the local institutional review board and was HIPAA compliant. All participants were consecutively enrolled with written informed consent. Forty-three right-handed patients were classified into IED (n = 20, 13 girls and seven boys; mean age ± standard deviation, 9.00 years ± 1.95) and non-IED (n = 23, 11 girls and 12 boys; mean age, 10.22 years ± 2.13) groups on the basis of electroencephalographic data simultaneously recorded during resting-state functional MR imaging at 3.0 T. The functional connectome features (estimated with graph theoretical analysis) in patient groups and control subjects who were matched for sex, age, and education level (n = 28, all right-handed, 13 girls and 15 boys; mean age, 10.00 years ± 2.31) were compared by using one-way analysis of variance. Results Patients with IEDs and those without IEDs showed consistently abnormal global topology in their functional networks (ie, decreased global efficiency; P < .05) relative to that of control subjects, with no differences between the two patient groups (P > .05). Decreased regional efficiency and connectivity strength were observed in the patients with IEDs and those without (mainly in the perirolandic and frontal areas) relative to control subjects (P < .05). Moreover, the altered functional features significantly correlated with clinical characteristics (ie, disease duration and age at symptom onset, P < .05). Conclusion These findings suggest that decreased global and regional efficiency are prominent functional deficits in children with benign epilepsy with centrotemporal spikes and can be readily identified with resting-state functional MR imaging, irrespective of IEDs. © RSNA, 2016 Online supplemental material is available for this article.


Assuntos
Conectoma/métodos , Epilepsia Rolândica/fisiopatologia , Adolescente , Córtex Cerebral , Criança , Estudos Transversais , Eletroencefalografia/métodos , Epilepsia Rolândica/diagnóstico , Epilepsia Rolândica/diagnóstico por imagem , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Rede Nervosa/diagnóstico por imagem , Rede Nervosa/fisiopatologia , Estudos Prospectivos
10.
Epilepsy Res ; 127: 186-190, 2016 11.
Artigo em Inglês | MEDLINE | ID: mdl-27610747

RESUMO

PURPOSE: The pharmacokinetics of Lamotrigine (LTG) varies widely among patients with epilepsy. In this study, we are aiming to investigate the effects of OCT1, ABCG2, ABCC2 and HNF4α genetic polymorphisms on plasma LTG concentrations and therapeutic efficacy in Chinese patients with epilepsy. METHODS: The study cohort comprised 112 Han Chinese patients with epilepsy who were receiving LTG monotherapy. Blood samples were taken and LTG levels were measured. The polymorphisms of OCT1 rs2282143, rs628031, ABCG2 rs2231142, rs2231137, ABCC2 rs2273697 and HNF4α rs2071197, rs3212183 were determined. The therapeutic efficacy of LTG at the 1-year time-point was assessed. Data analysis was performed using IBM SPSS Statistics 22.0. RESULTS: There were significant associations between OCT1 rs628031, ABCG2 rs2231142 polymorphisms and normalized LTG concentrations in patients with epilepsy (P<0.05). On the other hand, polymorphisms of OCT1 rs2282143, ABCG2 rs2231137, ABCC2 rs2273697 and HNF4α rs2071197, rs3212183 exhibited no correlation with LTG concentrations. Additionally, no significant association existed between all the studied genotypes and LTG treatment response. CONCLUSIONS: These results suggested that the polymorphisms of OCT1 rs628031 and ABCG2 rs2231142 may affect LTG metabolism in Chinese patients with epilepsy. However, future studies are necessary to be investigated in a larger cohort of epileptic patients.


Assuntos
Membro 2 da Subfamília G de Transportadores de Cassetes de Ligação de ATP/genética , Anticonvulsivantes/uso terapêutico , Epilepsia/tratamento farmacológico , Epilepsia/genética , Proteínas de Neoplasias/genética , Fator 1 de Transcrição de Octâmero/genética , Triazinas/uso terapêutico , Adulto , Anticonvulsivantes/sangue , Povo Asiático/genética , Epilepsia/sangue , Feminino , Fator 4 Nuclear de Hepatócito/genética , Humanos , Lamotrigina , Masculino , Proteína 2 Associada à Farmacorresistência Múltipla , Proteínas Associadas à Resistência a Múltiplos Medicamentos/genética , Polimorfismo Genético , Resultado do Tratamento , Triazinas/sangue
11.
Int J Ophthalmol ; 9(7): 1038-45, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27500114

RESUMO

AIM: To explore the relationship between metabolic risk factors and dry eye syndrome (DES). METHODS: Retrieved studies on the association of metabolic syndrome risk factors (hypertension, hyperglycemia, obesity, and hyperlipidemia) and DES were collected from PubMed, Web of Science, and the Cochrane Library in December 2015. Odds ratio (OR) with 95% confidence interval (CI) were pooled to evaluate the final relationship. Subgroup analyses were conducted according to diagnostic criteria of DES. RESULTS: Nine cross-sectional studies and three case-control studies were included in this Meta-analysis. The pooled results showed that people with hypertension, hyperglycemia, and hyperlipidemia had a higher risk of suffering from DES (P<0.05), especially the typical DES symptoms. On the other hand, obesity did not increase the risk of DES. CONCLUSION: The present Meta-analysis suggests that all metabolic risk factors except obesity were risk factors for DES.

12.
Hum Brain Mapp ; 36(10): 3878-89, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26173095

RESUMO

Benign epilepsy with centrotemporal spikes (BECTS) is often associated with neural circuit dysfunction, particularly during the transient active state characterized by interictal epileptiform discharges (IEDs). Little is known, however, about the functional neural circuit abnormalities in BECTS without IEDs, or if such abnormalities could be used to differentiate BECTS patients without IEDs from healthy controls (HCs) for early diagnosis. To this end, we conducted resting-state functional magnetic resonance imaging (RS-fMRI) and simultaneous Electroencephalogram (EEG) in children with BECTS (n = 43) and age-matched HC (n = 28). The simultaneous EEG recordings distinguished BECTS with IEDs (n = 20) from without IEDs (n = 23). Intrinsic brain activity was measured in all three groups using the amplitude of low frequency fluctuation at rest. Compared to HC, BECTS patients with IEDs exhibited an intrinsic activity abnormality in the thalamus, suggesting that thalamic dysfunction could contribute to IED emergence while patients without IEDs exhibited intrinsic activity abnormalities in middle frontal gyrus and superior parietal gyrus. Using multivariate pattern classification analysis, we were able to differentiate BECTS without IEDs from HCs with 88.23% accuracy. BECTS without epileptic transients can be distinguished from HC and BECTS with IEDs by unique regional abnormalities in resting brain activity. Both transient abnormalities as reflected by IEDs and chronic abnormalities as reflected by RS-fMRI may contribute to BECTS development and expression. Intrinsic brain activity and multivariate pattern classification techniques are promising tools to diagnose and differentiate BECTS syndromes. Hum Brain Mapp 36:3878-3889, 2015. © 2015 Wiley Periodicals, Inc.


Assuntos
Encéfalo/fisiopatologia , Epilepsia Rolândica/diagnóstico , Biomarcadores , Criança , Eletroencefalografia , Epilepsia/fisiopatologia , Feminino , Lobo Frontal/fisiopatologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Rede Nervosa/fisiopatologia , Testes Neuropsicológicos , Lobo Parietal/fisiopatologia , Reprodutibilidade dos Testes , Tálamo/fisiopatologia
13.
Epilepsy Behav ; 50: 91-5, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26209942

RESUMO

OBJECTIVE: The aim of this study was to investigate the association of depression and anxiety with adherence to antiepileptic drugs (AEDs) in Chinese patients with epilepsy. METHODS: A total of 184 Chinese patients with epilepsy, and without cognitive impairment, underwent psychometric tests: the Beck Depression Inventory (BDI) and the Beck Anxiety Inventory (BAI). Adherence to antiepileptic drugs was measured by the eight-item Morisky Medication Adherence Scale (MMAS-8). Data on patients' demographic characteristics, disease characteristics, and treatment characteristics were also collected. RESULTS: The MMAS-8 indicated that 39.7% of the patients had low adherence, 34.2% had moderate adherence, and 26.1% had high adherence. Demographic, disease, and treatment characteristics were not significantly different between the low adherence group and the moderate-to-high adherence group. Thirty-six (19.6%) patients had moderate-to-severe depression according to the BDI, and 47 (25.5%) patients were considered anxious according to the BAI. A significant difference in depression scores was found between the low adherence group and the moderate-to-high adherence group (χ(2)=13.625, P<0.001). We also found a significant difference in anxiety scores between the two groups (χ(2)=8.331, P=0.004). Pearson's correlations indicated that depression scores (r=-0.281, P<0.001) and anxiety scores (r=-0.255, P<0.001) were negatively correlated with adherence. Negative correlations were found between BDI scores and items 2, 7, and 8 of the MMAS-8 (P<0.05); negative correlations were also found between BAI scores and items 3 and 6-8 (P<0.05). CONCLUSION: Depression and anxiety were associated with reduced antiepileptic drug adherence in Chinese patients. Addressing depression and anxiety among patients with epilepsy may help improve adherence to AEDs.


Assuntos
Anticonvulsivantes/uso terapêutico , Ansiedade/psicologia , Povo Asiático/psicologia , Depressão/psicologia , Epilepsia/psicologia , Adesão à Medicação/psicologia , Adulto , Ansiedade/tratamento farmacológico , Ansiedade/epidemiologia , Estudos Transversais , Depressão/tratamento farmacológico , Depressão/epidemiologia , Epilepsia/tratamento farmacológico , Epilepsia/epidemiologia , Feminino , Humanos , Masculino , Estudos Prospectivos , Escalas de Graduação Psiquiátrica , Adulto Jovem
14.
Epilepsy Behav ; 45: 225-8, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25825367

RESUMO

OBJECTIVE: The aim of this study was to evaluate the clinical reliability and validity of the Chinese version of the Neurological Disorders Depression Inventory for Epilepsy (C-NDDI-E). METHODS: A total of 248 Chinese patients with epilepsy underwent psychometric tests, including the Chinese version of the Mini International Neuropsychiatric Interview (C-MINI), the Chinese version of the Beck Depression Inventory - II (C-BDI-II), and the C-NDDI-E. RESULTS: None of the patients had difficulties understanding or completing the C-NDDI-E. Cronbach's α coefficient was 0.824. At a cutoff score of ≥14, the C-NDDI-E had a sensitivity of 0.854, a specificity of 0.899, a positive predictive value of 0.625, and a negative predictive value of 0.969. The scores for the C-NDDI-E were positively correlated with those for the C-BDI-II (P<0.001). CONCLUSION: The C-NDDI-E is a reliable and valid screening tool for the detection of major depression in Chinese patients with epilepsy.


Assuntos
Povo Asiático , Transtorno Depressivo Maior/diagnóstico , Epilepsia/diagnóstico , Doenças do Sistema Nervoso/diagnóstico , Escalas de Graduação Psiquiátrica/normas , Adulto , Povo Asiático/etnologia , Povo Asiático/psicologia , Transtorno Depressivo Maior/etnologia , Transtorno Depressivo Maior/psicologia , Epilepsia/etnologia , Epilepsia/psicologia , Feminino , Humanos , Masculino , Doenças do Sistema Nervoso/etnologia , Doenças do Sistema Nervoso/psicologia , Inventário de Personalidade/normas , Reprodutibilidade dos Testes , Tradução , Adulto Jovem
15.
Biomed Res Int ; 2014: 960395, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25247197

RESUMO

Children with rolandic epilepsy (RE) are often associated with cognitive deficits and behavioral problems. Findings from neurophysiological and neuroimaging studies in RE have now demonstrated dysfunction not only in rolandic focus, but also in distant neuronal circuits. Little is known, however, about whether there is distributed abnormal spontaneous brain activity in RE. Using resting-state functional magnetic resonance imaging (RS-fMRI), the present study aimed to determine whether children with RE show abnormal local synchronization during resting state and, if so, whether these changes could be associated with the behavioral/clinical characteristics of RE. Regional homogeneity (ReHo) in children with RE (n = 30) and healthy children (n = 20) was computed on resting-state functional MRI data. In comparison with healthy children, children with RE showed increased ReHo in the central, premotor, and prefrontal regions, while they showed decreased ReHo in bilateral orbitofrontal cortex and temporal pole. In addition, the ReHo value in the left orbitofrontal cortex negatively was corrected with performance intelligence quotient in the children with RE. The aberrant local synchronization, not strictly related to primary site of the typical rolandic focus, indicates the neuropathophysiological mechanism of RE. The study findings may shed new light on the understanding of neural correlation of neuropsychological deficiencies in the children with RE.


Assuntos
Relógios Biológicos , Mapeamento Encefálico/métodos , Sincronização Cortical , Epilepsia Rolândica/fisiopatologia , Imageamento por Ressonância Magnética/métodos , Rede Nervosa/fisiopatologia , Potenciais de Ação , Criança , Feminino , Humanos , Masculino , Neurônios , Descanso
16.
Int J Ophthalmol ; 7(3): 574-6, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24967210

RESUMO

We report a case of syndromic gingival fibromatosis with notable ocular lesions, bilateral congenital cataracts, esotropia, and high myopia of a 21-year-old male patient from China. The patient was diagnosed with gingival fibromatosis based on his massive gingival overgrowth and histological findings that were consistent with gingival fibromatosis through a gingival biopsy. Lens opacity features were presented and phacoemulsificaion with intraocular lens(IOL) implantation was performed to manage the cataracts in both eyes. Transmission electronic microscopy was used to investigate the ultrastructure of the removed lens tissue. We also review the literature on gingival fibromatosis and briefly summarize the ocular manifestations of this rare disease.

17.
Int J Ophthalmol ; 6(4): 553-6, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23991396

RESUMO

AIM: To determine the changes which occur in the anterior capsule in true exfoliation which is a very rare condition. METHODS: The anterior capsule from a 93 year-old patient and 6 other patients with age-related cataract during capsulorhexis was examined via transmission electron microscopy (TEM). RESULTS: TEM revealed apoptosis of lens epithelial cells in both two groups. Moreover, we observed lamellar delamination, granular belts in the anterior capsular zone and loss of the subcapsular epithelium cells in the posterior capsular zone, as well as abnormal fibrils located in the central capsular layer only in the sample from the patient with true exfoliation. CONCLUSION: We suggest that loss of lens epithelial cells and appearance of abnormal fibrils is important in disease developing, and our study supported age-related degeneration is one of causative factors in true exfoliation.

19.
Zhejiang Da Xue Xue Bao Yi Xue Ban ; 34(6): 529-33, 2005 11.
Artigo em Chinês | MEDLINE | ID: mdl-16331815

RESUMO

OBJECTIVE: To report a Chinese Charcot-Marie-Tooth disease type 2 (CMT2) family. METHODS: All the members in the family were studied clinically,and 6 patients were studied electrophysiologically. Sural nerve biopsy was performed in the proband. PMP22 gene duplications were detected by highly polymorphic short tandem repeat. Point mutation analysis of PMP22, MPZ and NEFL gene was screened by PCR-SSCP combined with DNA direct sequencing. A genome-wide screening was carried out to the family. RESULT: Except 2 who had weakness and atrophy in both proximal and distal muscles of the lower limbs, all patients presented muscle wasting and a predominating weakness of distal parts of the lower limbs, and mild to moderate sensory impairments. In 6 patients who were subjected to elctrophysiological examinations, median-nerve conduction velocity (NCV) of the median nerve was normal. Electromyograms (EMGs) revealed signs of denervation with large motor unit potentials, fibrillation potentials and positive sharp waves. Sural nerve biopsy of the proband confirmed the presence of axonal neuropathy with an important loss of large myelinating fibers and a large number of clusters with mostly thinly myelinated axons. PMP22, MPZ and NEFL gene mutations were not found. The results of genome-wide screening revealed a linkage of CMT2 to a locus at chromosome 12q24. CONCLUSION: The results are consistent with the diagnosis of CMT2. This family represents a rare genetic type of CMT2 which can be designated as CMT2L.


Assuntos
Doença de Charcot-Marie-Tooth/genética , Doença de Charcot-Marie-Tooth/patologia , Cromossomos Humanos Par 12/genética , Adolescente , Adulto , Povo Asiático , Eletromiografia , Feminino , Humanos , Masculino , Linhagem
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