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The effectiveness of a neck fixation device to improve the image quality of DWIBS was investigated. Healthy volunteers were examined while chewing with and without a neck fixation device using a 3-T MRI system. Distance of mandibular movement was measured using true-fast imaging of steady-state precession (true FISP). Signal-to-noise ratio (SNR) and apparent diffusion coefficient (ADC) of DWIBS were measured. Image quality of DWIBS was scored by visual evaluation. These values were compared with and without a neck fixation device. Regarding results, the mandibular displacement and ADC were decreased, and the SNR and visual score were increased by the use of the fixation device. There is a significant difference between with and without a neck fixation device in each measurement. The technique using a neck fixation device helps improve image quality of DWIBS in the head and neck region.
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Imagen de Difusión por Resonancia Magnética , Imagen de Cuerpo Entero , Humanos , Imagen de Cuerpo Entero/métodos , Relación Señal-Ruido , Imagen de Difusión por Resonancia Magnética/métodos , Voluntarios SanosRESUMEN
INTRODUCTION: In patients with mild cognitive impairment, pathological changes begin in the amygdala (AMG) and hippocampus (HI), especially in the parahippocampal gyrus and entorhinal cortex (ENT). These areas play an important role in olfactory detection and recognition. It is important to understand how subtle signs of olfactory disability relate to the functions of the above-mentioned regions, as well as the orbitofrontal cortex (OFC). In this study, we evaluated brain activation using functional magnetic resonance imaging (fMRI), performed during the presentation of olfactory stimuli (classified as "normal odors" not inducing memory retrieval), and investigated the relationships of the blood oxygen level-dependent (BOLD) signal with olfactory detection and recognition abilities in healthy elderly subjects. METHODS: Twenty-four healthy elderly subjects underwent fMRI during olfaction, and raw mean BOLD signals were extracted from regions of interest, including bilateral regions (AMG, HI, parahippocampus, and ENT) and orbitofrontal subregions (frontal inferior OFC, frontal medial OFC, frontal middle OFC, and frontal superior OFC). Multiple regression and path analyses were conducted to understand the roles of these areas in olfactory detection and recognition. RESULTS: Activation of the left AMG had the greatest impact on olfactory detection and recognition, while the ENT, parahippocampus, and HI acted as a support system for AMG activation. Less activation of the right frontal medial OFC was associated with good olfactory recognition. These findings improve our understanding of the roles of limbic and prefrontal regions in olfactory awareness and identification in elderly individuals. CONCLUSION: Functional decline of the ENT and parahippocampus crucially impacts olfactory recognition. However, AMG function may compensate for deficits through connections with frontal regions.
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Amígdala del Cerebelo , Odorantes , Humanos , Anciano , Amígdala del Cerebelo/diagnóstico por imagen , Encéfalo/fisiología , Olfato/fisiología , Reconocimiento en Psicología , Imagen por Resonancia Magnética/métodosRESUMEN
PURPOSE: The effect of temporal sampling rate (TSR) on perfusion parameters has not been fully investigated in Moyamoya disease (MMD); therefore, this study evaluated the influence of different TSRs on perfusion parameters quantitatively and qualitatively by applying simultaneous multi-slice (SMS) dynamic susceptibility contrast-enhanced MR imaging (DSC-MRI). METHODS: DSC-MRI datasets were acquired from 28 patients with MMD with a TSR of 0.5 s. Cerebral blood flow (CBF), cerebral blood volume (CBV), mean transit time (MTT), time to peak (TTP), and time to maximum tissue residue function (Tmax) were calculated for eight TSRs ranging from 0.5 to 4.0 s in 0.5-s increments that were subsampled from a TSR of 0.5 s datasets. Perfusion measurements and volume for chronic ischemic (Tmax ≥ 2 s) and non-ischemic (Tmax < 2 s) areas for each TSR were compared to measurements with a TSR of 0.5 s, as was visual perfusion map analysis. RESULTS: CBF, CBV, and Tmax values tended to be underestimated, whereas MTT and TTP values were less influenced, with a longer TSR. Although Tmax values were overestimated in the TSR of 1.0 s in non-ischemic areas, differences in perfusion measurements between the TSRs of 0.5 and 1.0 s were generally minimal. The volumes of the chronic ischemic areas with a TSR ≥ 3.0 s were significantly underestimated. In CBF and CBV maps, no significant deterioration was noted in image quality up to 3.0 and 2.5 s, respectively. The image quality of MTT, TTP, and Tmax maps for the TSR of 1.0 s was similar to that for the TSR of 0.5 s but was significantly deteriorated for the TSRs of ≥ 1.5 s. CONCLUSION: In the assessment of MMD by SMS DSC-MRI, application of TSRs of ≥ 1.5 s may lead to deterioration of the perfusion measurements; however, that was less influenced in TSRs of ≤ 1.0 s.
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Enfermedad de Moyamoya , Humanos , Enfermedad de Moyamoya/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , Perfusión , Circulación CerebrovascularRESUMEN
BACKGROUND: Cognitive function declines with age and has been shown to be associated with atrophy in some brain regions, including the prefrontal cortex. However, the details of the relationship between aging and cognitive dysfunction are not well understood. METHODS: Across a wide range of ages (24- to 85-years-old), this research measured the gray matter volume of structural magnetic resonance imaging data in 39 participants, while some brain regions were set as mediator variables to assess the cascade process between aging and cognitive dysfunction in a path analysis. RESULTS: Path analysis showed that age affected the left hippocampus, thereby directly affecting the left superior frontal gyrus. Furthermore, the gyrus directly affected higher order flexibility and maintenance abilities calculated as in the Wisconsin card sorting test, and the two abilities affected the assessment of general cognitive function. CONCLUSION: Our finding suggests that a cascade process mediated by the left hippocampus and left superior frontal gyrus is involved in the relationship between aging and cognitive dysfunction.
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Cognición/fisiología , Disfunción Cognitiva/fisiopatología , Hipocampo/patología , Lóbulo Temporal/patología , Adulto , Anciano , Envejecimiento/fisiología , Corteza Cerebral/patología , Corteza Cerebral/fisiopatología , Disfunción Cognitiva/patología , Hipocampo/fisiopatología , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Persona de Mediana Edad , Lóbulo Temporal/fisiopatología , Adulto JovenRESUMEN
Specific odors can induce memories of the past, especially those associated with autobiographical and episodic memory. Odors associated with autobiographical memories have been found to elicit stronger activation in the orbitofrontal cortex, hippocampus, and parahippocampus compared with odors not linked to personal memories. Here, we examined whether continuous odor stimuli associated with autobiographical memories could activate the above olfactory areas in older adults and speculated regarding whether this odor stimulation could have a protective effect against age-related cognitive decline. Specifically, we used functional magnetic resonance imaging to investigate the relationship between blood oxygen levels in olfactory regions and odor-induced subjective memory retrieval and emotions associated with autobiographical memory in older adults. In our group of healthy older adults, the tested odors induced autobiographical memories that were accompanied by increasing levels of retrieval and the feeling of being "brought back in time." The strength of the subjective feelings, including vividness of the memory and degree of comfort, impacted activation of the left fusiform gyrus and left posterior orbitofrontal cortex. Further, our path model suggested that the strength of memory retrieval and of the emotions induced by odor-evoked autobiographical memories directly influenced neural changes in the left fusiform gyrus, and impacted left posterior orbitofrontal cortex activation through the left fusiform response.
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Emotion recognition is known to change with age, but associations between the change and brain atrophy are not well understood. In the current study atrophied brain regions associated with emotion recognition were investigated in elderly and younger participants. Group comparison showed no difference in emotion recognition score, while the score was associated with years of education, not age. We measured the gray matter volume of 18 regions of interest including the bilateral precuneus, supramarginal gyrus, orbital gyrus, straight gyrus, superior temporal sulcus, inferior frontal gyrus, insular cortex, amygdala, and hippocampus, which have been associated with social function and emotion recognition. Brain reductions were observed in elderly group except left inferior frontal gyrus, left straight gyrus, right orbital gyrus, right inferior frontal gyrus, and right supramarginal gyrus. Path analysis was performed using the following variables: age, years of education, emotion recognition score, and the 5 regions that were not different between the groups. The analysis revealed that years of education were associated with volumes of the right orbital gyrus, right inferior frontal gyrus, and right supramarginal gyrus. Furthermore, the right supramarginal gyrus volume was associated with the emotion recognition score. These results suggest that the amount of education received contributes to maintain the right supramarginal gyrus volume, and indirectly affects emotion recognition ability.
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Emociones/fisiología , Imagen por Resonancia Magnética , Lóbulo Parietal/diagnóstico por imagen , Lóbulo Parietal/fisiología , Adulto , Anciano , Anciano de 80 o más Años , Mapeo Encefálico , Femenino , Humanos , Masculino , Persona de Mediana EdadRESUMEN
INTRODUCTION: Pathological abnormalities first appear in the medial temporal regions including entorhinal cortex and parahippocampus in patients with Alzheimer's disease. Previous studies showed that olfactory decline in elderly subjects was associated with volume reductions in the left hippocampus and left parahippocampus without cognitive impairment. The aim of this study is to investigate the link between olfaction and volume reductions in the medial temporal regions including the parahippocampus, entorhinal cortex, and hippocampal subfields. METHOD: 27 elderly subjects and 27 young controls were measured olfaction acuity, cognitive function, and structural magnetic resonance imaging. Image processing and gray matter volumetric segmentation were performed with FreeSurfer. Volume data were analyzed with SPSS Statistics software. RESULTS: Interesting results of this study were that volume reduction in the entorhinal cortex was not directly linked with declining olfactory ability. Volume reduction in the left entorhinal cortex was correlated with volume reduction in the left parahippocampus and dentate gyrus. However, left parahippocampus volume reduction had the greatest impact on olfactory decline, and the entorhinal cortex and dentate gyrus might additionally contribute to olfactory decline. CONCLUSION: Our results indicate that olfactory decline may be directly reflected in the medial temporal regions as reduced parahippocampus volumes, rather than as morphological changes in the entorhinal cortex and hippocampus. The parahippocampus may play an important role in the association between memory retrieval and olfactory identification.
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Corteza Entorrinal , Olfato , Anciano , Hipocampo/diagnóstico por imagen , Humanos , Procesamiento de Imagen Asistido por Computador , Imagen por Resonancia MagnéticaRESUMEN
The degree to which glaucoma has effects in the brain beyond the eye and the visual pathways is unclear. To clarify this, we investigated white matter microstructure (WMM) in 37 tracts of patients with glaucoma, monocular blindness, and controls. We used brainlife.io for reproducibility. White matter tracts were subdivided into seven categories ranging from those primarily involved in vision (the visual white matter) to those primarily involved in cognition and motor control. In the vision tracts, WMM was decreased as measured by fractional anisotropy in both glaucoma and monocular blind subjects compared to controls, suggesting neurodegeneration due to reduced sensory inputs. A test-retest approach was used to validate these results. The pattern of results was different in monocular blind subjects, where WMM properties increased outside the visual white matter as compared to controls. This pattern of results suggests that whereas in the monocular blind loss of visual input might promote white matter reorganization outside of the early visual system, such reorganization might be reduced or absent in glaucoma. The results provide indirect evidence that in glaucoma unknown factors might limit the reorganization as seen in other patient groups following visual loss.
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Ceguera/fisiopatología , Glaucoma/fisiopatología , Sustancia Gris/patología , Tracto Óptico/patología , Vías Visuales/patología , Sustancia Blanca/patología , Anisotropía , Estudios de Casos y Controles , Imagen de Difusión Tensora , Femenino , Humanos , Masculino , Persona de Mediana EdadRESUMEN
The aim of this study was to investigate the relationship between olfactory recognition and morphological changes in olfactory brain regions including the amygdala, hippocampus, rectus, parahippocampus, orbitofrontal cortex, and medial frontal cortex in 27 elderly subjects and 27 younger healthy controls. The specific aim of the study was to determine which brain areas are associated with the initial decline of olfaction in elderly subjects, which occurs before the onset of dementia. All subjects underwent magnetic resonance imaging to measure anatomical brain volume and cortical thickness, and subjects were assessed using tests of olfactory acuity and cognitive function measured with the Montreal Cognitive Assessment. Overall brain volume reductions were observed in elderly subjects compared with young healthy controls, but only reduction in the volume of the left hippocampus was associated with decreased olfactory ability. The parahippocampus of elderly subjects was not different from that of controls; the extent of the reduction of parahippocampus volume varied among individuals, and reduction in this region was associated with olfactory decline. Similarly, parahippocampus thinning was associated with decreased olfactory function. The path analysis showed direct and indirect effects of hippocampus and parahippocampus volume on olfactory ability and that volume reductions in these areas were not associated with cognitive function. Parahippocampus volume reduction and thinning exhibited individual variation; this may be the first appearance of pathological changes and may lead to dysfunction in the connection of olfactory memory to the neocortex. Parahippocampus change may reflect the first sign of olfactory impairment prior to pathological changes in the hippocampus, amygdala and orbitofrontal cortex.
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A growing number of brain imaging studies show functional connectivity (FC) between regions during emotional and cognitive tasks in humans. However, emotions are accompanied by changes in physiological parameters such as heart rate and respiration. These changes may affect blood oxygen level-dependent signals, as well as connectivity between brain areas. This study aimed to clarify the effects of physiological noise on the connectivity between areas related to the default mode network using resting-state functional magnetic resonance imaging (rs-fMRI). Healthy adult volunteers (age range: 19-51 years, mean age: 26.9 ± 9.1 years, 8 males and 8 females) underwent rs-fMRI for 10 min using a clinical 3T scanner (MAGNETOM Trio A Tim System, Siemens) with simultaneously recorded respiration and cardiac output. Physiological noise signals were subsequently removed from the acquired fMRI data using the DRIFTER toolbox. Image processing and analysis of the FC between areas related to the default mode network were performed using DPARSF. Network-Based Statistic (NBS) analysis of the functional connectome of the DMN and DMN-related area was used to perform three groups of comparison: without physiological noise correction, with cardiac noise correction, and with cardiac and respiratory noise correction. NBS analysis identified 36 networks with significant differences in three conditions in FC matrices. Post hoc comparison showed no differences between the three conditions, indicating that all three had the same networks. Among the 36 networks, strength of FC of 8 networks was modified under physiological noise correction. Connectivity between left and right anterior medial frontal regions increased strength of connectivity. These areas are located on the medial cerebral hemisphere, close to the sagittal sinus and arteries in the cerebral hemispheres, suggesting that medial frontal areas may be sensitive to cardiac rhythm close to arteries. The other networks observed temporal regions and showed a decrease in their connectivity strength by removing physiological noise, indicating that physiological noise, especially respiration, may be sensitive to BOLD signal in the temporal regions during resting state. Temporal lobe was highly correlated with anxiety-related respiration changes (Masaoka and Homma, 2000), speech processing, and respiratory sensation. These factors may affect the rs-fMRI signaling sensitivity.
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PURPOSE: The purpose of this study was to investigate recent trends in work-style reform and the use of information and communication technology (ICT) among board-certified diagnostic radiologists in Japan. MATERIALS AND METHODS: We conducted online questionnaire surveys of board-certified radiologists of the Japan Radiological Society (JRS) and registered training institutions. Completed surveys were obtained from 1192 radiologists and 275 training institutions (response rates of 25.5% and 38.1%, respectively). Respondents were assured of confidentiality. RESULTS: 13.5% (134/991) of full-time radiologists and 56.7% (89/157) of part-time radiologists had shifted some of their work to teleradiology at home. In addition, 52.9% (83/157) of part-time radiologists and 27.3% (12/44) of board-certified individuals who had stopped working as radiologists responded that they would consider starting full-time work in hospitals, if teleradiology at home was permitted as part of full-time work. Furthermore, 16.7% of training institutions (46/275) had introduced teleradiology systems for radiologists, and 47.2% (108/229) of the remaining training institutions wanted to introduce teleradiology systems in the future. CONCLUSION: Teleradiology using ICT is already a part of Japanese radiologists' workload. Work-style reform may progress with the use of ICT, such as part-time radiologists, and board-certified individuals who stop working as radiologists, becoming full-time radiologists.
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Tecnología de la Información/estadística & datos numéricos , Radiólogos/estadística & datos numéricos , Radiología/métodos , Encuestas y Cuestionarios/estadística & datos numéricos , Telerradiología/estadística & datos numéricos , Femenino , Humanos , Japón , Masculino , Radiología/estadística & datos numéricos , Carga de Trabajo/estadística & datos numéricosRESUMEN
This study was designed to examine deviation of the bronchus by postural change from supine to lateral position during spontaneous respiration. Fifteen healthy volunteers [13 men and 2 women, mean age: 34 years (range 26-42)] participated. Chest radiograms (anterior-posterior) were acquired in the order of supine, left lateral, and right lateral position. The bilateral bronchus angles and secondary carina angles were measured in the acquired images, and the angles were compared between the supine and lateral positions to evaluate deviation of the bronchus in the lateral position. The left secondary carina angle in the supine position was 61.3° ± 4.0° and it significantly increased to 65.5° ± 6.0° in the left lateral position (P = 0.001), but no significant difference was noted in the left bronchus angle between the supine and left lateral positions (P = 0.158). The curvature of left main bronchus, which we defined more than 5° increase in secondary carina angle, was observed in a half of the male participants during left lateral position. We should be aware of these anatomical changes due to the surgical posture as a possible cause for ventilation failure during one-lung ventilation.
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Bronquios/fisiología , Postura/fisiología , Posición Supina , Tráquea/fisiología , Adulto , Femenino , Humanos , Masculino , Ventilación Unipulmonar , Radiografía , Insuficiencia RespiratoriaRESUMEN
Autobiographical odor memory (AM-odor) accompanied by a sense of realism of a specific memory elicits strong emotions. AM-odor differs from memory triggered by other sensory modalities, possibly because olfaction involves a unique sensory process. Here, we examined the orbitofrontal cortex (OFC), using functional magnetic resonance imaging (fMRI) to determine which OFC subregions are related to AM-odor. Both AM-odor and a control odor successively increased subjective ratings of comfortableness and pleasantness. Importantly, AM-odor also increased arousal levels and the vividness of memories, and was associated with a deep and slow breathing pattern. fMRI analysis indicated robust activation in the left posterior OFC (L-POFC). Connectivity between the POFC and whole brain regions was estimated using psychophysiological interaction analysis (PPI). We detected several trends in connectivity between L-POFC and bilateral precuneus, bilateral rostral dorsal anterior cingulate cortex (rdACC), and left parahippocampus, which will be useful for targeting our hypotheses for future investigations. The slow breathing observed in AM-odor was correlated with rdACC activation. Odor associated with emotionally significant autobiographical memories was accompanied by slow and deep breathing, possibly involving rdACC processing.
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PURPOSE: Glaucoma is the most common age-related neurodegenerative eye disease in western society. It is an insidious disease that, when untreated or detected too late, leads inevitably to blindness. An outstanding issue is whether glaucoma should be considered exclusively an eye disease or also a brain disease. To further examine it, we used Diffusion Tensor Imaging (DTI) to study white matter integrity in a Japanese glaucoma population. This population has a very high incidence of normal-pressure glaucoma, in which optic nerve damage occurs in the absence of the elevated eye pressure that characterises the more common form of glaucoma. METHODS: We performed DTI in 30 participants with normal-pressure glaucoma and 21 age-matched healthy controls. We used voxel-wise tract-based spatial statistics to compare fractional anisotropy and mean diffusivity of the white matter of the brain between patients and control group. Whole-brain and region of interest-based analyses served to find associations between diffusion indices and clinical measures of glaucomatous damage. RESULTS: Fractional Anisotropy was significantly lower in glaucoma patients in a cluster in the right occipital lobe (p < 0.05; family-wise error-corrected) comprising fibres of both the optic radiation and the forceps major. Additional analysis confirmed bilateral involvement of the optic radiations and forceps major and additionally revealed damage to the corpus callosum and parietal lobe (p < 0.09; family-wise error-corrected). The region of interest-based analysis revealed a positive association between Fractional Anisotropy of the optic radiation and optic nerve damage. CONCLUSIONS: In this specific population, glaucoma is associated with lower Fractional Anisotropy in the optic radiations, forceps major and corpus callosum. We interpret these reductions as evidence for white matter degeneration in these loci. In particular, the degeneration of the corpus callosum suggests the presence of neurodegeneration of the brain beyond what can be explained on the basis of propagated retinal and pre-geniculate damage. We discuss how this finding links to the emerging view that a brain component that is independent from the eye damage plays a role in the aetiology of glaucoma.
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Encéfalo/diagnóstico por imagen , Imagen de Difusión Tensora/métodos , Trastornos Heredodegenerativos del Sistema Nervioso/etiología , Presión Intraocular/fisiología , Glaucoma de Baja Tensión/complicaciones , Vías Visuales/diagnóstico por imagen , Femenino , Trastornos Heredodegenerativos del Sistema Nervioso/diagnóstico , Trastornos Heredodegenerativos del Sistema Nervioso/epidemiología , Humanos , Incidencia , Japón/epidemiología , Glaucoma de Baja Tensión/epidemiología , Glaucoma de Baja Tensión/fisiopatología , Masculino , Persona de Mediana EdadRESUMEN
PURPOSE: To compare the lesion contrast and signal to noise ratio (SNR) obtained with T1-weighted pointwise encoding time reduction with radial acquisition (PETRA) to those of Magnetization-Prepared RApid Gradient-Echo (MPRAGE) for contrast-enhanced imaging of primary and metastatic intracranial tumors, and to investigate whether PETRA is able to reduce acoustic noise for improved patient comfort. MATERIALS AND METHODS: Fifteen patients with intracranial tumors underwent 3 Tesla MRI including inversion-prepared PETRA and MPRAGE. The two sequences had comparable scan times, spatial resolution and spatial coverage. "Tumor conspicuity" was rated qualitatively by two radiologists, while enhancing lesion-to-white matter contrast to noise ratio (CNR) and white-matter SNR were analyzed quantitatively using paired t-tests. The acoustic noise generated by each sequence was measured. RESULTS: Qualitative rating of "tumor conspicuity" by two radiologists resulted in nearly identical average scores for the two sequences. Quantitative analyses revealed that (i) there was no significant difference between the mean CNR values of the two sequences (P = 0.57), (ii) the mean SNR of PETRA was significantly higher than that of MPRAGE (P < 0.01), and (iii) the mean sound level of PETRA was significantly lower than that of MPRAGE (P < 0.01). CONCLUSION: Inversion-prepared PETRA was found to be viable as a quiet alternative to MPRAGE for contrast-enhanced T1-weighted studies of intracranial tumors.
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Neoplasias Encefálicas/patología , Imagen por Resonancia Magnética/métodos , Adulto , Anciano , Anciano de 80 o más Años , Medios de Contraste , Femenino , Humanos , Interpretación de Imagen Asistida por Computador , Masculino , Persona de Mediana Edad , Relación Señal-RuidoRESUMEN
N-acetylaspartate (NAA) appears in a prominent peak in proton magnetic resonance spectroscopy ((1)H-MRS) of the brain. Exhibition by NAA of time-dependent attenuation that reflects energy metabolism during the acute stage of cerebral ischemia makes this metabolite a unique biomarker for assessing ischemic stroke. Although magnetic resonance (MR) imaging is a powerful technique for inspecting the pathological changes that occur during ischemic stroke, biomarkers that directly reflect the drastic metabolic changes associated with acute-stage ischemia are strongly warranted for appropriate therapeutic decision-making in daily clinical settings. In this review, we provide a brief overview of NAA metabolism and focus on the use of attenuation in NAA as a means for assessing the pathophysiological changes that occur during the acute stage of ischemic stroke.
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Ácido Aspártico/análogos & derivados , Isquemia Encefálica/metabolismo , Espectroscopía de Resonancia Magnética/métodos , Accidente Cerebrovascular/metabolismo , Enfermedad Aguda , Animales , Ácido Aspártico/metabolismo , Encéfalo/metabolismo , Humanos , RatasRESUMEN
We report on the case of a 77-year-old male with genetically proven spinocerebellar ataxia type 31 (SCA31) who had dystonia. He was referred to our hospital for evaluation following a 6-year history of slowly progressive unsteadiness of his left leg during walking and dysarthria at the age of 62 years old. On the basis of his symptoms, we diagnosed him as spinocerebellar degeneration (SCD), and prescribed taltirelin hydrate. However, his symptoms continued to worsen. He required a cane for walking at the age of 63 years, and a wheelchair at the age of 66 years. He was admitted to our hospital following acute cerebral infarction at the age of 77 years. On examination at admission, right hemiparesis and cerebellar ataxia were detected. And left hallux moved involuntarily toward the top surface of the foot at rest, that is dystonia. The dystonia was not associated with cerebral infarction, because it had been several years with dystonia that he got cerebral infarction. Genetic analysis revealed that this patient harbored a heterozygous SCA31 mutation. Previously there have been no reports of SCA31 associated with dystonia. Our case report support clinical heterogeneity of SCA31, and highlight the importance of considering this type in patients with dystonia and ataxia. Patients with the combination of dystonia and ataxia and a family history of a neurodegenerative disorder should be tested for SCA31.
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Distonía/etiología , Ataxias Espinocerebelosas/complicaciones , Ataxias Espinocerebelosas/genética , Anciano , Encéfalo/patología , Imagen de Difusión por Resonancia Magnética , Progresión de la Enfermedad , Electromiografía , Complejos de Clasificación Endosomal Requeridos para el Transporte/genética , Lateralidad Funcional/fisiología , Factores de Intercambio de Guanina Nucleótido/genética , Humanos , Masculino , Mutagénesis Insercional , Ubiquitina-Proteína Ligasas Nedd4 , Espectrina/genética , Ataxias Espinocerebelosas/diagnóstico , Ataxias Espinocerebelosas/patología , Timidina Quinasa/genética , Ubiquitina-Proteína Ligasas/genéticaRESUMEN
Olfaction is dependent on respiration for the delivery of odorants to the nasal cavity. Taking advantage of the time-locked nature of inspiration and olfactory processing, electroencephalogram dipole modeling (EEG/DT) has previously been used to identify a cascade of inspiration-triggered neural activity moving from primary limbic olfactory regions to frontal cortical areas during odor perception. In this study, we leverage the spatial resolution of functional magnetic resonance imaging (fMRI) alongside the temporal resolution of EEG to replicate and extend these findings. Brain activation identified by both modalities converged within association regions of the orbitofrontal cortex that were activated from approximately 150-300 ms after inspiration onset. EEG/DT was additionally sensitive to more transient activity in primary olfactory regions, including the parahippocampal gyrus and amygdala, occurring approximately 50 ms post-inspiration. These results provide a partial validation of the spatial profile of the olfactory cascade identified by EEG source modeling, and inform novel future directions in the investigation of human olfaction.