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BACKGROUND: Although available literature indicates that the incidence of dementia in the epilepsy population and the risk of seizures in the Alzheimer's disease (AD) population are high, the specific genetic risk factors and the interaction mechanism are unclear, rendering rational genetic interpretation rather challenging. AIMS: Our work aims to identify the common core ion channel genes in epilepsy and AD. METHODS: In this study, we first integrated gene expression omnibus datasets (GSE48350 and GSE6834) on AD and epilepsy to identify differentially expressed genes (DEGs), performing Gene Ontology function and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis of DEGs. The related protein-protein interaction (PPI) network was constructed for DEGs, and the hub gene was evaluated. RESULTS: A total of 2800 and 35 genes were identified in GSE48350 and GSE6834, and 12 DEGs were significantly differentially expressed between the datasets. KEGG pathway analysis showed that DEGs were primarily enriched in glutamatergic synapse and dopaminergic synapse pathways. SCN2A, GRIA1, and KCNJ9 were the hub genes with high connectivity. CONCLUSIONS: The findings suggest that the three genes, SCN2A, GRIA1, and KCNJ9, may serve as potential targets for treating AD comorbid with epilepsy.
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Enfermedad de Alzheimer , Epilepsia , Humanos , Mapas de Interacción de Proteínas , Canales Iónicos/genética , Canales Iónicos/metabolismo , Perfilación de la Expresión Génica , Biología ComputacionalRESUMEN
Introduction: Magnetic resonance imaging (MRI) staging scans are critical for the diagnosis and treatment of patients with nasopharyngeal cancer (NPC). We aimed to evaluate the application value of LAVA-Flex and T1WI-IDEAL sequences in MRI staging scans. Methods: Eighty-four newly diagnosed NPC patients underwent both LAVA-Flex and T1WI-IDEAL sequences during MRI examinations. Two radiologists independently scored the acquisitions of image quality, fat suppression quality, artifacts, vascular and nerve display. The obtained scores were compared using the Wilcoxon signed rank test. According to the signal intensity (SI) measurements, the uniformity of fat suppression, contrast between tumor lesions and subcutaneous fat tissue, and signal-to-noise ratio (SNR) were compared by the paired t-test. Results: Compared to the T1WI-IDEAL sequence, LAVA-Flex exhibited fewer artifacts (P<0.05), better visualization of nerves and vessels (P<0.05), and performed superior in the fat contrast ratio of the primary lesion and metastatic lymph nodes (0.80 vs. 0.52, 0.81 vs. 0.56, separately, P<0.001). There was no statistically significant difference in overall image quality, tumor signal-to-noise ratio (SNR), muscle SNR, and the detection rate of lesions between the two sequences (P>0.05). T1WI-IDEAL was superior to LAVA-Flex in the evaluation of fat suppression uniformity (P<0.05). Discussion: LAVA-Flex sequence provides satisfactory image quality and better visualization of nerves and vessels for NPC with shorter scanning times.
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BACKGROUND: Facial emotion perception and recognition (FEPR) deficits are the sources of disability, impaired social relationship, and reduced quality of life. Studies of unilateral acute ischemic stroke (AIS) remain controversial about FEPR deficits. METHODS: Clinical and neurocognitive data were collected and analyzed among normal controls (NC) and AIS patients with left brain damage (LBD), right brain damage (RBD), and infratentorial brain damage (IBD). To assess FEPR, all participants completed a localization test (the Southeastern China Brief Affect Recognition Test). Correlation analyses were conducted between the FEPR deficits and cognitive functions. RESULTS: Compared with NC, all three groups of AIS patients reported significant FEPR deficits. Although no statistical difference in FEPR deficits were observed among the LBD, RBD and IBD patients, the deficit patterns were markedly different. FEPR deficits were positively correlated with cognitive impairment. CONCLUSIONS: FEPR deficits may occur in AIS patients and are associated with impaired cognitive functions, where the cerebral hemispheres and the infratentorial brain are jointly involved. Early recognition and early intervention of FEPR deficits in AIS patients are critical for post-stroke rehabilitation, reconstruction of social function and improvement in life quality.
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Reconocimiento Facial , Accidente Cerebrovascular Isquémico , Humanos , Calidad de Vida , Reconocimiento en Psicología , Emociones , Expresión Facial , Pruebas NeuropsicológicasRESUMEN
BACKGROUND: DNA methylation is expected to become a kind of new diagnosis and treatment method of Alzheimer's disease (AD). Neuroinflammation- and immune-related pathways represent one of the major genetic risk factors for AD. OBJECTIVE: We aimed to investigate DNA methylation levels of 7 key immunologic-related genes in peripheral blood and appraise their applicability in the diagnosis of AD. METHODS: Methylation levels were obtained from 222 participants (101 AD, 72 MCI, 49 non-cognitively impaired controls). Logistic regression models for diagnosing AD were established after least absolute shrinkage and selection operator (LASSO) and best subset selection (BSS), evaluated by respondent working curve and decision curve analysis for sensitivity. RESULTS: Six differentially methylated positions (DMPs) in the MCI group and 64 in the AD group were found, respectively. Among them, there were 2 DMPs in the MCI group and 30 DMPs in the AD group independent of age, gender, and APOE4 carriers (pâ< â0.05). AD diagnostic prediction models differentiated AD from normal controls both in a training dataset (LASSO: 8 markers, including methylation levels at ABCA7 1040077, CNR1 88166293, CX3CR1 39322324, LRRK2 40618505, LRRK2 40618493, NGFR 49496745, TARDBP 11070956, TARDBP 11070840 area under the curve [AUC]â=â0.81; BSS: 2 markers, including methylation levels at ABCA7 1040077 and CX3CR1 39322324, AUCâ=â0.80) and a testing dataset (AUCâ=â0.84, AUCâ=â0.82, respectively). CONCLUSION: Our work indicated that methylation levels of 7 key immunologic-related genes (ABCA7, CNR1, CX3CR1, CSF1R, LRRK2, NGFR, and TARDBP) in peripheral blood was altered in AD and the models including methylation of immunologic-related genes biomarkers improved prediction of AD.
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Enfermedad de Alzheimer , Disfunción Cognitiva , Humanos , Enfermedad de Alzheimer/diagnóstico , Enfermedad de Alzheimer/genética , Disfunción Cognitiva/diagnóstico , Apolipoproteína E4/genética , Biomarcadores , Metilación de ADN/genéticaRESUMEN
Aphasia shows high incidence in stroke patients and seriously impairs language comprehension, verbal communication, and social activities. Therefore, screening aphasic patients during the acute phase of stroke is crucial for language recovery and rehabilitation. The present study developed a Chinese version of the Language Screening Test (CLAST) and validated it in post-stroke patients.The CLAST was adapted from the Language Screening Test developed by Constance et al to incorporate Chinese cultural and linguistic specificities, and administered to 207 acute stroke patients and 89 stabilized aphasic or non-aphasic patients. Based on the Western Aphasia Battery (WAB) test, its reliability and validity were assessed. A cut-off for the CLAST in Chinese patients was determined by ROC curve analysis.The CLAST comprised 5 subtests and 15 items, including 2 subscores, namely expression (8 points, assessing naming, repetition, and automatic speech) and receptive (7 points maximum, evaluating picture recognition, and verbal instructions) indexes. Analysis of the alternate-form reliability of the questionnaire showed a retest correlation coefficient of 0.945 (Pâ<â.001). Intraclass correlation coefficients of three rating teams were >0.98 (Pâ<â.001). Internal consistency analysis showed a Cronbach's alpha coefficient of 0.909 (Pâ<â.001). The non-aphasia group showed higher scores than the aphasia group (14.2â±â1.3 vs 10.6â±â3.8) (Pâ<â.01). The questionnaire showed good construct validity by factor analysis. ROC curve analysis showed high sensitivity and specificity for the CLAST, with a cut-off of 13.5.The CLAST is suitable for Chinese post-stroke patients during the acute phase, with high reliability, validity, sensitivity, and specificity.
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Afasia/diagnóstico , Afasia/etiología , Pruebas del Lenguaje/normas , Accidente Cerebrovascular/complicaciones , Anciano , Anciano de 80 o más Años , China , Femenino , Humanos , Lenguaje , Masculino , Persona de Mediana Edad , Reproducibilidad de los Resultados , Sensibilidad y EspecificidadRESUMEN
OBJECTIVE: To investigate changes in the functional connectivity (FC) pattern in the posterior cingulate cortex (PCC) of Parkinson's disease (PD) patients with mild cognitive impairment and dementia by employing resting-state functional magnetic resonance imaging (RS-fMRI). METHODS: Twenty-seven PD patients with different cognitive status and 9 healthy control subjects (control group) were enrolled for RS-fMRI. The RS-fMRI data were analyzed with DPARSF and REST software. Regions with changed functional connectivity were determined by the seed-based voxelwise method and compared between groups. Correlation between the intensity of FC and the MoCA scores of PD group was analyzed. RESULTS: Parametric maps showed statistical increases in PCC functional connectivity in PD-MCI patients and decreases in PCC connectivity in PDD patients. The latter group of patients also showed evidence for increased connectivity between prefrontal cortices and posterior cerebellum. A significant positive correlation was found between the MoCA scores and the strength of PCC connectivity in the angular gyrus and posterior cerebellum and a negative correlation between MoCA scores and PCC connectivity in all other brain regions. CONCLUSION: When patients transition from PD-NCI to PD-MCI, there appears to be an increase in functional connectivity in the PCC, suggesting an expansion of the cortical network. Another new network (a compensatory prefrontal cortical-cerebellar loop) later develops during the transition from PD-MCI to PDD.