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Introduction: Low-grade epilepsy-associated tumors are the second most common histopathological diagnoses in cases of drug-resistant focal epilepsy. However, the connection between neuroimaging features and genetic alterations in these tumors is unclear, prompting an investigation into genotype-relevant neuroimaging characteristics. Methods: This study retrospectively analyzed neuroimaging and surgical specimens from 46 epilepsy patients with low-grade epilepsy-associated neuroepithelial tumors that had genetic mutations identified through panel sequencing to investigate their relationship to genotypes. Results: Three distinct neuroimaging groups were established: Group 1 had indistinct borders and iso T1-weighted and slightly high or high T2-weighted signal intensities without a diffuse mass effect, associated with 93.8% sensitivity and 100% specificity to BRAF V600E mutations; Group 2 exhibited sharp borders and very or slightly low T1-weighted and very high T2-weighted signal intensities with a diffuse mass effect and 100% sensitivity and specificity for FGFR1 mutations; and Group 3 displayed various characteristics. Histopathological diagnoses including diffuse low-grade glioma and ganglioglioma showed no clear association with genotypes. Notably, postoperative seizure-free rates were higher in Group 1 tumors (BRAF V600E) than in Group 2 tumors (FGFR1). Discussion: These findings suggest that tumor genotype may be predicted by neuroimaging before surgery, providing insights for personalized treatment approaches.
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BACKGROUND AND PURPOSE: Neuromyelitis optica spectrum disorder is a demyelinating and inflammatory affliction that often leads to visual disturbance. Various imaging techniques, including free-water imaging, have been used to determine neuroinflammation and degeneration. Therefore, this study aimed at determining multimodal imaging differences between patients with neuromyelitis optica spectrum disorder, especially those with visual disturbance, and healthy controls. MATERIALS AND METHODS: Eighty-five neuromyelitis optica spectrum disorder patients and 89 age- and sex-matched healthy controls underwent 3-T magnetic resonance imaging (MRI). We analyzed adjusted brain-predicted age difference, voxel-based morphometry, and free-water-corrected diffusion tensor imaging (DTI) by tract-based spatial statistics in each patient group (MRI-positive/negative neuromyelitis optica spectrum disorder patients with or without a history of visual disturbance) compared with the healthy control group. RESULTS: MRI-positive neuromyelitis optica spectrum disorder patients exhibited reduced volumes of the bilateral thalamus. Tract-based spatial statistics showed diffuse white matter abnormalities in all DTI metrics in MRI-positive neuromyelitis optica spectrum disorder patients with a history of visual disturbance. In MRI-negative neuromyelitis optica spectrum disorder patients with a history of visual disturbance, voxel-based morphometry showed volume reduction of bilateral thalami and optic radiations, and tract-based spatial statistics revealed significantly lower free-water-corrected fractional anisotropy and higher mean diffusivity in the posterior dominant distributions, including the optic nerve radiation. CONCLUSION: Free-water-corrected DTI and voxel-based morphometry analyses may reflect symptoms of visual disturbance in neuromyelitis optica spectrum disorder.
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Imagem de Tensor de Difusão , Imageamento por Ressonância Magnética , Imagem Multimodal , Neuromielite Óptica , Transtornos da Visão , Humanos , Neuromielite Óptica/diagnóstico por imagem , Feminino , Masculino , Adulto , Pessoa de Meia-Idade , Imagem de Tensor de Difusão/métodos , Transtornos da Visão/diagnóstico por imagem , Transtornos da Visão/etiologia , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Adulto Jovem , Substância Branca/diagnóstico por imagem , Substância Branca/patologiaRESUMO
PURPOSE: Burning mouth syndrome (BMS) is defined by a burning sensation or pain in the tongue or other oral sites despite the presence of normal mucosa on inspection. Both psychiatric and neuroimaging investigations have examined BMS; however, there have been no analyses using the neurite orientation dispersion and density imaging (NODDI) model, which provides detailed information of intra- and extracellular microstructures. Therefore, we performed voxel-wise analyses using both NODDI and diffusion tensor imaging (DTI) models and compared the results to better comprehend the pathology of BMS. METHODS: Fourteen patients with BMS and 11 age- and sex-matched healthy control subjects were prospectively scanned using a 3T-MRI machine using 2-shell diffusion imaging. Diffusion tensor metrics (fractional anisotropy [FA], mean diffusivity [MD], axial diffusivity [AD], and radial diffusivity [RD]) and neurite orientation and dispersion index metrics (intracellular volume fraction [ICVF], isotropic volume fraction [ISO], and orientation dispersion index [ODI]) were retrieved from diffusion MRI data. These data were analyzed using tract-based spatial statistics (TBSS) and gray matter-based spatial statistics (GBSS). RESULTS: TBSS analysis showed that patients with BMS had significantly higher FA and ICVF and lower MD and RD than the healthy control subjects (family-wise error [FWE] corrected P < 0.05). Changes in ICVF, MD, and RD were observed in widespread white matter areas. Fairly small areas with different FA were included. GBSS analysis showed that patients with BMS had significantly higher ISO and lower MD and RD than the healthy control subjects (FWE-corrected P < 0.05), mainly limited to the amygdala. CONCLUSION: The increased ICVF in the BMS group may represent myelination and/or astrocytic hypertrophy, and microstructural changes in the amygdala in GBSS analysis indicate the emotional-affective profile of BMS.
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Síndrome da Ardência Bucal , Sintase do Amido , Substância Branca , Humanos , Imagem de Tensor de Difusão/métodos , Substância Cinzenta/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Neuritos , Síndrome da Ardência Bucal/diagnóstico por imagem , Imagem de Difusão por Ressonância Magnética , Substância Branca/diagnóstico por imagemRESUMO
Myeloid sarcoma is a rare clinical entity that presents as an isolated proliferation of leukemic cells, concurrently with or at relapse of acute myeloid leukemia (AML), myelodysplastic syndromes/neoplasms (MDS), chronic myeloid leukemia (CML), and myeloproliferative neoplasm (MPN). Myeloid sarcoma disrupts the normal architecture of its surrounding tissues. When it forms in long bones, it can cause their pathological fracture. We recently experienced a rare case of MDS presenting with myeloid sarcoma in the femur that eventually resulted in its pathological fracture. Detailed chromosomal analysis of the bone marrow cells suggested emergence of myeloid sarcoma during the fast-paced progression of MDS just after acquiring trisomy 22. A comprehensive review of previous cases of myeloid sarcoma-associated pathological fracture indicated possible involvement of structural rearrangements of chromosomes 9 and 22. Management of myeloid sarcoma should continue to improve, and clinicians should note that myeloid sarcoma with specific chromosomal alterations needs extra medical attention to prevent pathological fracture.
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Fraturas Espontâneas , Leucemia Mieloide Aguda , Síndromes Mielodisplásicas , Transtornos Mieloproliferativos , Sarcoma Mieloide , Humanos , Sarcoma Mieloide/genética , Sarcoma Mieloide/patologia , Fraturas Espontâneas/etiologia , Transtornos Mieloproliferativos/genética , Síndromes Mielodisplásicas/genética , Leucemia Mieloide Aguda/genéticaRESUMO
OBJECTIVES: Post-operative urinary incontinence (PUI) after robotic-assisted radical prostatectomy (RARP) is an important complication; PUI occurs immediately after postoperative urethral catheter removal, and, although approximately 90% of patients improve within one year after surgery, it can significantly worsen their quality of life. However, information is lacking on its nature in community hospital settings, particularly in Asian countries. The purposes of this study were to investigate the time required to recover from PUI after RARP and to identify its associated factors in a Japanese community hospital. METHODS: Data were extracted from the medical records of 214 men with prostate cancer who underwent RARP from 2019 to 2021. We then calculated the number of days elapsed from the surgery to the initial outpatient visit confirming PUI recovery among the patients. We estimated the PUI recovery rate using the Kaplan-Meier product limit method and evaluated associated factors using the multivariable Cox proportional hazards model. RESULTS: The PUI recovery rates were 5.7%, 23.4%, 64.6%, and 93.3% at 30, 90, 180, and 365 days following RARP, respectively. After an adjustment, those with preoperative urinary incontinence experienced significantly slower PUI recovery than their counterparts, while those with bilateral nerve sparing experienced recovery significantly sooner than those with no nerve sparing. CONCLUSION: Most PUI improved within one year, but a proportion of those experiencing recovery before 90 days was smaller than previously reported.
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Neoplasias da Próstata , Procedimentos Cirúrgicos Robóticos , Robótica , Incontinência Urinária , Masculino , Humanos , Procedimentos Cirúrgicos Robóticos/métodos , Qualidade de Vida , Estudos Retrospectivos , População do Leste Asiático , Hospitais Comunitários , Resultado do Tratamento , Incontinência Urinária/etiologia , Prostatectomia/efeitos adversos , Neoplasias da Próstata/cirurgiaRESUMO
Intravascular lymphoma (IVL) is difficult to diagnose because its clinical presentation and laboratory and imaging findings are nonspecific. Herein, we report a case of IVL presenting as a lesion in the splenium of the corpus callosum. A 52-year-old man attended the emergency department with a 2-week history of progressively worsening abnormal behavior and gait disturbance. Magnetic resonance imaging on admission revealed an oval lesion in the splenium of the corpus callosum. The follow-up magnetic resonance imaging performed 2 months after disease onset revealed multiple high-signal areas in the bilateral cerebral white matter on T2-weighted images and diffusion-weighted images. The blood test results showed an elevated level of lactate dehydrogenase and serum-soluble interleukin-2 receptor. These findings were compatible with the diagnosis of IVL. IVL is often difficult to diagnose due to a wide variety of clinical presentations and imaging findings.
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BACKGROUND: Brain metastases (BMs) are the most common intracranial tumors causing neurological complications associated with significant morbidity and mortality. PURPOSE: To evaluate the effect of computer-aided detection (CAD) on the performance of observers in detecting BMs on non-enhanced computed tomography (NECT). MATERIAL AND METHODS: Three less experienced and three experienced radiologists interpreted 30 NECT scans with 89 BMs in 25 cases to detect BMs with and without the assistance of CAD. The observers' sensitivity, number of false positives (FPs), positive predictive value (PPV), and reading time with and without CAD were compared using paired t-tests. The sensitivity of CAD and the observers were compared using a one-sample t-test. RESULTS: With CAD, less experienced radiologists' sensitivity significantly increased from 27.7% ± 4.6% to 32.6% ± 4.8% (P = 0.007), while the experienced radiologists' sensitivity did not show a significant difference (from 33.3% ± 3.5% to 31.9% ± 3.7%; P = 0.54). There was no significant difference between conditions with CAD and without CAD for FPs (less experienced radiologists: 23.0 ± 10.4 and 25.0 ± 9.3; P = 0.32; experienced radiologists: 18.3 ± 7.4 and 17.3 ± 6.7; P = 0.76) and PPVs (less experienced radiologists: 57.9% ± 8.3% and 50.9% ± 7.0%; P = 0.14; experienced radiologists: 61.8% ± 12.7% and 64.0% ± 12.1%; P = 0.69). There were no significant differences in reading time with and without CAD (85.0 ± 45.6â s and 73.7 ± 36.7â s; P = 0.09). The sensitivity of CAD was 47.2% (with a PPV of 8.9%), which was significantly higher than that of any radiologist (P < 0.001). CONCLUSION: CAD improved BM detection sensitivity on NECT without increasing FPs or reading time among less experienced radiologists, but this was not the case among experienced radiologists.
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Neoplasias Encefálicas , Tomografia Computadorizada por Raios X , Humanos , Sensibilidade e Especificidade , Tomografia Computadorizada por Raios X/métodos , Radiologistas , Neoplasias Encefálicas/diagnóstico por imagem , ComputadoresRESUMO
BACKGROUND: Specific pacing methods to unmask the existence of the dual atrioventricular (AV) nodal pathway in patients with dual AV nodal non-reentrant tachycardia remain to be established. OBJECTIVE: This study aimed to determine the electrophysiological characteristics of dual AV nodal non-reentrant tachycardia by its responses to specific pacing methods. METHODS: Five patients diagnosed as having dual AV nodal non-reentrant tachycardia were retrospectively investigated. RESULTS: Atrial pacing could not induce the clinical tachycardia as continuous double firing in any of the 5 patients, but did induce sudden prolongation of the A-H interval as the linking phenomenon in 1 patient. A single atrial extrastimulation after sinus excitations was performed without interruption of double firing in 1 patient, and it induced the double ventricular response phenomenon within the limited range of the extrastimulus intervals. The pacing method of AV simultaneous basic pacing preceding atrial programmed extrastimulation did not allow interruptions of double firing during the basic drive trains and induced the double ventricular response phenomenon within the limited range of the extrastimulus intervals in all 5 patients, even in 1 patient without inducibility of the clinical tachycardia in the catheterization laboratory. The double ventricular response phenomenon within the limited range of the extrastimulus intervals may be based on the existence of the dual AV nodal pathway with concealed retrograde penetration. CONCLUSION: The AV simultaneous basic pacing preceding atrial programmed extrastimulation method consistently and reproducibly unmasked the existence of the dual AV nodal pathway as the double ventricular response phenomenon in patients with dual AV nodal non-reentrant tachycardia.
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Fibrilação Atrial , Taquicardia por Reentrada no Nó Atrioventricular , Humanos , Estudos Retrospectivos , Estimulação Cardíaca Artificial/métodos , Taquicardia por Reentrada no Nó Atrioventricular/diagnóstico , Taquicardia por Reentrada no Nó Atrioventricular/terapia , Nó Atrioventricular , EletrocardiografiaRESUMO
BACKGROUND: Meningiomas have vascular supply from the tumor attachment on the dura mater. Gamma Knife radiosurgery (GKS) is known to have a vascular obliterating effect. This study aims to determine the benefits of high-dose irradiation to the tumor attachment compared to conventional dose planning in the long-term control of tumor growth with GKS. METHODS: Two different dose plannings were retrospectively compared in 75 patients with meningioma treated with GKS as a primary treatment. Forty-three patients were irradiated over 20 Gy to the tumor attachment. The remaining 32 patients were treated with conventional-dose planning. Tumor growth control, reduction of enhancement on the gadolinium-enhanced magnetic resonance imaging (MRI), and neurological status were retrospectively assessed. RESULTS: The maximum dose on the tumor attachment was significantly higher in the high-dose group (23 Gy) than in the conventional group (16 Gy). The tumor margin was irradiated with the median of the 50% isodose line in both groups. The prescription doses resulted in 14 Gy and 12 Gy, respectively. The tumor control rate achieved 91% in both groups during the median follow-up period of 54 months. A decrease of enhancement on follow-up MRI was noted in one patient in each group. Kaplan-Meier analysis revealed no statistical difference in the progression-free survival between the two groups. The number of patients with improved neurological status showed no statistical difference. CONCLUSIONS: No obvious benefit of high-dose irradiation to the tumor attachment and margin was found in tumor control and neurological status in the long term.
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Neoplasias Meníngeas , Meningioma , Radiocirurgia , Seguimentos , Humanos , Neoplasias Meníngeas/diagnóstico por imagem , Neoplasias Meníngeas/radioterapia , Neoplasias Meníngeas/cirurgia , Meningioma/diagnóstico por imagem , Meningioma/radioterapia , Meningioma/cirurgia , Radiocirurgia/métodos , Estudos Retrospectivos , Resultado do TratamentoRESUMO
Post-traumatic facial nerve paralysis is a common disease, but intracranial facial nerve injury after blunt injury has rarely been reported. We report a case of facial nerve avulsion at the cerebellopontine angle. A 23-year-old female with incomplete right-sided facial nerve palsy and facial spasms presented to our hospital. She had a history of traumatic injury, having fallen off a table and hit her head at the age of 2 years. After the accident, she developed complete right-sided facial nerve palsy and underwent conservative treatment with steroids. A magnetic resonance imaging examination performed 21 years later showed avulsion of the facial nerve at the cerebellopontine angle. Magnetic resonance imaging targeting the facial nerves might provide additional information to computed tomography in cases with poor recovery with conservative treatment.
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Toxoplasma gondii can develop toxoplasmic encephalitis (TE) in immunodeficient conditions such as AIDS and after organ transplantation. While some cases of TE with malignant lymphoma were reported, these cases occurred immediately after chemotherapy or when their diseases were active. Here we report the first Case of TE that occurred in patient who was in partial remission (PR) of lymphoplasmacytic lymphoma (LPL) for two years. A 76-year-old man was referred to our institute because of disturbance of consciousness, right arm weakness and paresthesia. A computed tomography (CT) scan detected multiple nodules in his brain. Magnetic resonance imaging (MRI) of the head detected multiple gadolinium-enhancing parenchymal lesions with hyperintense signals on T2-and diffusion-weighted images, located in both cerebral and cerebellar hemispheres. Blood test and cerebrospinal fluid (CSF) findings were unremarkable. His rapidly deteriorating consciousness precluded a chance of brain biopsy. Considering the limited efficacy of antimicrobials and the imaging findings that could be compatible with the diagnosis of malignant lymphoma, we suspected central nerve system (CNS) recurrence of LPL. Although chemotherapy was initiated, he died of respiratory failure just after chemotherapy. A pathological autopsy showed his cause of death was TE. To our knowledge, this is the first case of TE in long-term PR of malignant lymphoma. TE should be suspected when patients with malignant lymphoma present unexplained neurologic symptoms regardless of their treatment efficacy of lymphoma. (226/250 words).
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Linfoma , Toxoplasma , Toxoplasmose Cerebral , Encéfalo/diagnóstico por imagem , Pré-Escolar , Humanos , Imageamento por Ressonância Magnética , Masculino , Toxoplasmose Cerebral/diagnóstico , Toxoplasmose Cerebral/tratamento farmacológicoRESUMO
OBJECTIVE: Previous studies have demonstrated structural brain network abnormalities in patients with temporal lobe epilepsy (TLE) using cortical thickness or gray matter (GM) volume. However, no studies have applied single-subject GM network analysis. Here, we first applied an analysis of similarity-based single-subject GM networks to individual patients with TLE. MATERIALS AND METHODS: We recruited 51 patients with TLE and unilateral hippocampal sclerosis (22 left, 29 right TLE) and 51 age- and gender- matched healthy controls. Single-subject structural networks were extracted from three-dimensional T1-weighted magnetic resonance images for each subject. In this method, nodes were defined as small cortical regions and edges representing connecting regions that have high statistical similarity. The constructed graphs were analyzed using the graph theoretical approach. The following global and local network properties were calculated: betweenness centrality, clustering coefficient, and characteristic path length. In addition, small world properties (normalized path length λ, normalized clustering coefficient γ, and small-world network value σ) were obtained and compared with those for the controls. RESULTS: Although the small-world configurations were retained, impaired global clustering coefficient was observed in left and right TLE. At a regional level, patients with left TLE showed a widespread decrease of the clustering coefficient beyond the ipsilateral temporal lobe and a decreased characteristic path length in the ipsilateral temporal pole. On the other hand, patients with right TLE showed a localized decrease of the clustering coefficient in the ipsilateral temporal lobe. CONCLUSIONS: Our findings suggest that global and local network properties disrupted and moved toward randomized networks in TLE patients in comparison to controls. This network alteration was more extensive in left TLE than in right TLE patients. Single-subject GM networks may contribute to a better understanding of the pathophysiology of TLE.
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Epilepsia do Lobo Temporal , Substância Cinzenta/patologia , Hipocampo/patologia , Humanos , Imageamento por Ressonância Magnética , Esclerose/patologia , Lobo TemporalRESUMO
PURPOSE: Burning mouth syndrome (BMS) is a chronic intraoral pain syndrome. Previous studies have attempted to determine the brain connectivity features in BMS using functional and structural magnetic resonance imaging. However, no study has investigated the structural connectivity using multi-shell, multi-tissue-constrained spherical deconvolution (MSMT-CSD), anatomically constrained tractography (ACT), and spherical deconvolution informed filtering of tractograms (SIFT). Therefore, this study aimed to assess the differences in brain structural connectivity of patients with BMS and healthy controls using probabilistic tractography with these methods, and graph analysis. METHODS: Fourteen patients with BMS and 11 age- and sex-matched healthy volunteers underwent 3-T magnetic resonance imaging. MSMT-CSD-based probabilistic structural connectivity was computed using the second-order integration over fiber orientation distributions algorithm based on nodes set in 84 anatomical cortical regions with ACT and SIFT. A t-test was performed for comparisons between the BMS and healthy control brain networks. RESULTS: The betweenness centrality was significantly higher in the left insula, right amygdala, and right lateral orbitofrontal cortex and significantly lower in the right inferotemporal cortex in the BMS group than that in healthy controls. However, no significant difference was found in the clustering coefficient, node degree, and small-worldness between the two groups. CONCLUSION: Graph analysis of brain probabilistic structural connectivity, based on diffusion imaging using an MSMT-CSD model with ACT and SIFT, revealed alterations in the regions comprising the pain matrix and medial pain ascending pathway. These results highlight the emotional-affective profile of BMS, which is a type of chronic pain syndrome.
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Síndrome da Ardência Bucal , Algoritmos , Encéfalo/diagnóstico por imagem , Síndrome da Ardência Bucal/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , DorRESUMO
OBJECTIVE: The aim of this study was to evaluate tau-related structural network metrics derived from gray matter magnetic resonance imaging (MRI) scans in cognitively normal (CN) older adults. METHODS: We recruited 47 amyloid-negative CN older adults (mean age ± standard deviation, 65.0 ± 7.9 years; 26 women). All participants underwent 3D T1-weighted MRI and 11C-Pittsburgh compound-B and 18F-THK5351 positron emission tomography scans. Four local network metrics (betweenness centrality, clustering coefficient, characteristic path length, and degree) were computed and rendered on individual brain images. We then evaluated the correlations between 18F-THK5351 positron emission tomography images and local network metric images at the voxel level. RESULTS: Significant positive correlations of the four local network metrics with 18F-THK5351 were detected in the bilateral caudate. CONCLUSION: Our findings suggest that tau and neuroinflammation in CN older adults may influence the gray matter structural network in the caudate.
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OBJECTIVE: This study aimed to examine the alterations in gray matter networks related to tau retention in Alzheimer's disease (AD) patients and cognitively normal (CN) older individuals. METHODS: Eighteen amyloid-positive AD patients and 30 age- and sex-matched amyloid-negative CN controls were enrolled. All underwent 3D T1-weighted MRI, amyloid positron-emission tomography imaging (PET) with 11C-Pittsburgh Compound B (PiB), and tau PET with 18F-THK5351. The structural networks extracted from the T1-weighted MRI data based on cortical similarities within single subjects were analyzed. Based on graph theoretical approach, global and local network properties across the whole brain were computed. Group comparisons of global and local network properties were evaluated between the groups. Then, we correlated the global and local network measures with total cerebral 18F-THK5351 retention. RESULTS: AD patients moved toward more randomized global network compared to controls and regional differences were observed in the default mode network (DMN) area. No significant correlations existed between global network properties and tau retention. On a local level, AD and controls showed opposite relationships between network properties and tau retention mainly in the DMN areas; CN controls showed positive correlations, whereas AD showed negative correlations. CONCLUSION: We found opposite relationships between local network properties and tau retention between amyloid-positive AD patients and amyloid-negative controls. Our findings suggest that the presence of amyloid and induced exacerbated tau retention alter the relationship of local network properties and tau retention.
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BACKGROUND AND PURPOSE: Chorea-acanthocytosis, a rare neurodegenerative disease, affects both the striatum and the medial temporal lobe which may cause involuntary movements and epilepsy, respectively. We examined the imaging changes of the hippocampus/amygdala and the striatum as well as clinical symptoms. MATERIALS AND METHODS: We retrospectively reviewed 29 MRI and 13 SPECT studies and the clinical findings of seven genetically confirmed chorea-acanthocytosis patients. We evaluated the time-dependent imaging changes of the hippocampus/amygdala and striatum and examined the relationships among these images and symptoms. RESULTS: The initial symptom was epilepsy in four patients and involuntary movements in three patients. These symptoms were eventually noted in five and all seven patients, respectively. On MRI, most patients showed striatum atrophy before a hippocampus/amygdala abnormality emerged, but one patient showed a hippocampus/amygdala abnormality before striatum atrophy. Abnormal MRI findings of hippocampus/amygdala were noted in five patients and atrophy of striatum in all seven patients. SPECT demonstrated hypoperfusion of hippocampus/amygdala in three patients and that of striatum in all five available patients. Four patients demonstrated hypoperfusion of striatum earlier than that of hippocampus/amygdala and one patient showed hypoperfusion of both simultaneously. Many imaging abnormal lesions were accompanied by their corresponding symptoms, but not always so. CONCLUSION: Striatum abnormalities were the initial imaging findings in many chorea-acanthocytosis patients, but epilepsy or hippocampus/amygdala imaging abnormalities may be the only findings at the early stage. It is important to understand the detailed clinical and imaging time courses for the diagnosis of chorea-acanthocytosis.
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Epilepsia do Lobo Temporal , Neuroacantocitose , Doenças Neurodegenerativas , Atrofia , Hipocampo , Humanos , Imageamento por Ressonância Magnética , Neuroacantocitose/diagnóstico por imagem , Estudos RetrospectivosRESUMO
BACKGROUND AND PURPOSE: Beta-propeller protein-associated neurodegeneration (BPAN) is one subtype of neurodegeneration with brain iron accumulation. It is difficult to diagnose BPAN due to the non-specificity of their clinical findings and neuroimaging in early childhood. We experienced four pediatric patients with serial brain MRI and evaluated the alteration of the findings through their course. METHODS: We retrospectively reviewed the clinical findings and 21 MRI findings of the four patients with genetically confirmed pediatric BPAN. We also performed a quantitative MR assessment using the quantitative susceptibility mapping (QSM) values of the globus pallidus (GP), substantia nigra (SN), and deep cerebellar nuclei (DCN) compared to 10 age-matched disease controls. RESULTS: Only one patient was suspected of BPAN based on imaging findings before the genetic diagnosis was made. The other three patients could not be suspected until their Whole-exome sequencings (WES) done. In all four cases, no abnormal signals were noted in the GP and SN at the initial brain MRI, but hypointensities were observed after the ages of 4-7 years on T2-weighted images and after the ages of 2-7 years on susceptibility-weighted images. In three patients, T2 hyperintensity in the bilateral DCN was persistently observed throughout the observational period. Three patients showed transient T2 hyperintensity and swelling in the GP, SN and/or DCN during the episodes of pyrexia and seizures. The other findings included cerebral and cerebellar atrophy, thinning of the corpus callosum, and delayed myelination. The QSM values of the GP and SN were significantly higher in the patients compared to the controls (P=0.005, respectively), but that of the DCN did not differ significantly (P=0.16). CONCLUSION: Brain MRI is a useful method to establish the early diagnosis of BPAN.
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Proteínas de Transporte , Doenças Neurodegenerativas , Criança , Pré-Escolar , Humanos , Imageamento por Ressonância Magnética , Doenças Neurodegenerativas/diagnóstico por imagem , Neuroimagem , Estudos RetrospectivosRESUMO
BACKGROUND AND PURPOSE: Recent studies suggest that the autoantibodies against adrenergic/muscarinic receptors might be one of the causes and potential markers of myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS). The purpose of this study was to investigate the structural network changes related to autoantibody titers against adrenergic/muscarinic receptors in ME/CFS by performing a single-subject gray matter similarity-based structural network analysis. METHODS: We prospectively examined 89 consecutive right-handed ME/CFS patients who underwent both brain MRI including 3D T1-wighted images and a blood analysis of autoantibodies titers against ß1 adrenergic receptor (ß1 AdR-Ab), ß2 AdR-Ab, M3 acetylcholine receptor (M3 AchR-Ab), and M4 AchR-Ab. Single-subject gray matter similarity-based structural networks were extracted from segmented gray matter images for each patient. We calculated local network properties (betweenness centrality, clustering coefficient, and characteristic path length) and global network properties (normalized path length λ, normalized clustering coefficient γ, and small-world network value δ). We investigated the correlations between the autoantibody titers and regional gray matter/white matter volumes, the local network properties, and the global network properties. RESULTS: Betweenness centrality showed a significant positive correlation with ß1-AdR-Ab in the right dorsolateral prefrontal cortex. The characteristic path length showed a significant negative correlation with ß2-AdR-Ab in the right precentral gyrus. There were no significant correlations between the antibody titers and the regional gray matter/white matter volumes, and the global network properties. CONCLUSIONS: Our findings suggest that ß1 AdR-Ab and ß2 AdR-Ab are potential markers of ME/CFS.