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The word “fixel” refers to the specific fiber population within each voxel, and fixel-based analysis (FBA) is a recently developed technique that facilitates fiber tract-specific statistical analysis. The aim of the paper is to apply FBA to detect impaired fibers for corticobasal syndrome (CBS) especially in regions that contain multiple crossed fibers. FBA was performed in cohorts of participants clinically diagnosed with CBS (n = 10) and Parkinson’s disease (n = 15) or in healthy controls (n = 9). The parameters of the diffusion weighted image were echo time, 83 ms; time, 8123.6 ms; flip angle, 90°; section thickness, 2 mm; b = 1000 s/mm2; and 32 axes. Diffusion tensor analysis was conducted using tract-based spatial statistics (TBSS), and white matter volume was estimated via voxel-based morphometry. A comparison of PD or HC to CBS revealed a significant difference in the dentatorubrothalamic tract of the brainstem in FBA in addition to the affected regions in voxel-based morphometry and TBSS (family-wise error-corrected p < 0.05). Reduction of the white matter fibers crossing the brainstem could not be detected via microstructural changes identified using TBSS, but it was detected using FBA. FBA has some advantages in determining the distribution of corticobasal syndrome lesions.

Muscle aging such as sarcopenia adversely affects motor activities. However, few studies have elucidated the aging physiological mechanism of tongue concerted with the changes muscle composition. The present study aimed to examine the tongue composition changes to detect the effect of tongue fat mass on tongue pressure and swallowing function with aging. Twenty community-dwelling elderly without head and neck cancer, stroke, or neuromuscular disease and 20 healthy young were included. Tongue volume, tongue fat mass, tongue lean muscle mass, and tongue fat percentage were evaluated with 3D magnetic resonance imaging (MRI) and Dixon MRI. Tongue pressure was also measured. Swallowing function among elderly individuals was assessed via videofluorography, which was evaluated using the penetration-aspiration scale (PAS) and normalized residue ratio scale (NRRS). Tongue fat mass and tongue fat percentage significantly increased with aging. The tongue fat percentage of elderly participants was 20%, which was two times greater than that of young participants. No significant difference was observed in tongue volume and tongue lean muscle mass. A significantly negative correlation was observed between tongue fat mass and tongue fat percentage as well as tongue pressure. Conversely, tongue volume was not significantly correlated with tongue pressure. Tongue muscle composition exhibited no effect in the PAS and NRRS. Increase of fat mass is a major change in tongue composition with aging, which is associated with low tongue pressure. Thus, attention must be paid not only to tongue quantity but also to the quality of tongue muscles.

In this study, we report the case of a 24-year-old man with intellectual disability and childhood-onset seizures. This patient had newly identified biallelic variants in the laminin subunit gamma 3 (Exome sequencing.Genetic analyses revealed new biallelic variants in thePatients with

To evaluate the frequency, characteristics, and clinical significance of transient hyperintensity foci on T1-weighted images (T1WI) in acute disseminated encephalomyelitis (ADEM). Patients diagnosed with ADEM underwent MR studies at the time of disease onset and every 3 months or more often thereafter. The frequency and appearance timing of abnormal signals including T1WI and their morphological characteristics were evaluated. Relations between patient symptoms and abnormal signals on MRI were also evaluated. Five ADEM patients were included in this study. Linear (n = 2) or nodular (n = 1) T1-hyperintensity foci appeared in 3 patients (60%, 3/5). Locations of T1-hyperintensity foci were both cortical/subcortical region and basal ganglia (n = 1), subcortical region alone (n = 1), and internal capsule (n = 1). Those T1-hyperintensity foci were located within the T2-weighted image (T2WI) and fluid-attenuated inversion recovery (FLAIR) hyperintensity foci on initial MRI. Some T1-hyperintensity foci also showed hyperintensity on diffusion-weighted image (DWI) and contrast enhancement. T1-hyperintensity appeared at 14–43 days (median, 28 days), and disappeared in 2 patients at 91 days and 627 days after disease onset. There were no neurological sequelae remained in any patients. T1-hyperintensity foci is not a rare finding (60%) and it can be observed after improvement in symptoms in ADEM.

ObjectiveIn this study, we report the case of a 24-year-old man with intellectual disability and childhood-onset seizures. This patient had newly identified biallelic variants in the laminin subunit gamma 3 (LAMC3) gene with unreported cortical malformation.MethodsExome sequencing.ResultsGenetic analyses revealed new biallelic variants in the LAMC3 gene. An MRI examination of the brain revealed cortical malformations predominantly in the temporal lobes and mildly in the occipital, frontal, and parietal lobes. In addition, our patient also exhibited mild midline malformation in the ventral pons, which is unique to LAMC3 variants.DiscussionPatients with LAMC3 variants have been reported to exhibit cortical malformation predominantly in the occipital lobes, but this patient exhibited cortical malformation predominantly in the temporal lobes and mildly in the occipital, frontal, and parietal lobes. In addition, this patient also exhibited mild midline malformation in the ventral pons. These unique findings cast new light on the role of LAMC3 in brain development.

Objective Changes in brain tissue can be detected sensitively using PRESTO (principles of echo-shifting with a train of observations) magnetic resonance imaging (MRI). The aim of this study was to evaluate the correlation between the proliferative ability of astrocytoma and intratumoral spotty signal voids seen as hypo-intense dots on PRESTO MRI. Patients and Methods Fifty-seven astrocytic tumors, comprising 14 astrocytomas, 12 anaplastic astrocytomas, and 31 glioblastomas, were included in this retrospective study. The tumors were classified independently by blinded radiologists according to the number of spotty signal voids detected on PRESTO-MRI as follows: spot-free (grade 0), less than 3 spots (grade 1), or more than 3 spots or a large spot (grade 2). Results Thirteen patients (92.9%) with astrocytoma were classified as PRESTO grade 0 and 1 patient (7.1%) was classified as grade 1. Seven patients (58.3%) with anaplastic astrocytoma were classified as PRESTO grade 0, 1 (8.3%) as grade 1, and 4 as grade 2 (33.3%). Three patients (9.7%) with glioblastoma were classified as grade 0, 6 (19.4%) as grade 1, and 22 (70.9%) as grade 2. There was a strong correlation between PRESTO tumor grade and the mean MIB-1 index. Conclusions These results indicate that a grading system based on the number of spotty signal voids detected on PRESTO images would be useful for the diagnosis of astrocytic tumors and predicting their proliferative ability.

The outcome of multimodal therapy for localized bladder rhabdomyosarcoma is quite good in terms of morbidity, and conservative surgery is generally recommended. However, in cases originating in the bladder neck, tumorectomy or partial cystectomy has adverse effects on bladder function. A 2-year-old girl underwent transurethral resection of a bladder tumor (TUR-BT), chemotherapy consisting of vincristine, actinomycin-D, and cyclophosphamide, and radiotherapy. She was in remission for 3 years when frequent urination became evident. Her bladder capacity and compliance were low; however, her urinary symptom was controlled using anticholinergic medication. Accordingly, TUR-BT could be an optional approach for bladder rhabdomyosarcoma. Keywords: Rhabdomyosarcoma, Transurethral resection, Conservative surgery

Background Meningovascular neurosyphilis, a form of early neurosyphilis, can cause infectious arteritis, which can be complicated by cerebral infarction. High-resolution vessel wall imaging (HR-VWI) is one of the techniques used to directly visualize the vessel wall. Herein, we present a rare case of meningovascular neurosyphilis, in which intracranial arterial vasculitis was evaluated using HR-VWI. Case presentation A 22-year-old man with no medical history of any condition was brought to the emergency room with one day history of right upper and lower extremity weakness. Diffusion-weighted magnetic resonance (MR) imaging showed a high signal from the left putamen to the corona radiata, and MR angiography showed stenosis of the right internal carotid artery (ICA) and the bilateral middle cerebral arteries (MCAs). HR-VWI showed thickening, along with smooth, intense, and concentric enhancement of the right ICA and the bilateral MCAs. The patient was diagnosed with neurosyphilis based on the findings of the blood tests and cerebrospinal fluid examination. The patient's symptoms gradually improved after treatment with intravenous penicillin G and oral antiplatelet agents. HR-VWI, performed approximately 6 months after the treatment, revealed improvement in the contrast enhancement of the vessel wall and the vascular stenosis. Conclusion To the best of our knowledge, this is the first report of meningovascular neurosyphilis that evaluated the course of treatment using HR-VWI. Our report highlights the effectiveness of HR-VWI to determine the effects of treatment on meningovascular neurosyphilis.

During the early developmental stage, the brain undergoes more changes in size, shape, and appearance than at any other stage in life. A better understanding of brain development can decrease the symptom of development disorder through very early detection and application of remedial education. In this paper, we present a computer-aided diagnosis (CAD) system, which estimates onset probability of brain development disorder using neonatal brain MR images. The CAD system first constructs spatiotemporal statistical shape model (stSSM) of neonatal brain, extracts static and dynamic morphological features, and estimates the probability using machine learning techniques. This paper proposes the stSSM construction method which produces temporally continuous Eigenvectors by extending previous EM-based-stSSM construction method. The method has been validated by applying it to 12 neonatal brains whose revised ages are between - 5 to 730 days.

Congenital leukemia is a rare subgroup of childhood leukemia. Lineage switches in leukemic cells are relatively rare events, which have been occasionally reported in congenital leukemia. To the best of our knowledge, the survival of congenital leukemia patients with lineage switch has not been previously documented. This lack of documentation may be attributable to extremely poor prognosis of these patients. We describe a case of a newborn female with initial diagnosis of MLL-AF4 positive B-precursor acute lymphoblastic leukemia, who developed lineage switch to acute monocytic leukemia following the induction therapy. Although morphological remission was temporary, she received an HLA-haploidentical bone marrow transplant from her father with non-remission status because of an early relapse at the age of 4 months. Despite many difficulties such as graft-versus-host disease, growth impairment, and psychomotor retardation, she remained in remission for 3 years and 7 months after the transplant. This successful outcome suggests that the graft-versus-leukemia effect was potentially accomplished in the patient. Taken together, early HLA-haploidentical stem cell transplant following remission is required for congenital leukemia patients with lineage switch, and it may be an effective alternative for refractory patients.

In the recent years in Japan, an increasing number of patients with neuroblastoma (NB) are being treated by the “delayed local treatment (DL)” policy, undergoing surgery after the completion of high-dose chemotherapy with hematopoietic stem cell rescue (HDC). We reviewed the histopathological findings of second-look operations, including those of patients treated with DL. From 1998 to 2013, 26 patients with high-risk NB underwent radical operation following chemotherapy. Surgery was performed after induction chemotherapy in 17 cases (standard; STD), whereas 9 cases completed induction chemotherapy and HDC before undergoing tumor resection (DL). The amount of necrosis and the degree of differentiation within the post-treatment tumor were assessed. Eighty-eight percent of the tumors showed necrosis in more than 1/3 of the specimen. Two DL cases showed complete disappearance of viable tumor cells. Amount of necrosis did not affect the prognosis of the patient. Tumors with immature, poorly differentiated phenotypes showed an extremely aggressive thereafter. Though not statistically proven, 123I-MIBG (metaiodobenzylguanidine) uptake may be correlated with the amount of viable cells remaining within the tumor, but not with the degree of differentiation. Our results support the previous reports advocating that tumors that sustain unfavorable histology after chemotherapy behave aggressively thereafter.

Introduction/Background The mechanism of oral sarcopenia concerned with tongue muscle atrophy is imperfectly understood. We must pay careful attention whether the pathology of tongue muscle affects dysphagia in the elderly. The purpose of this study was to investigate the relationship between the decrease in tongue muscle volume and tongue weakness with magnetic resonance imaging (MRI) examination. Material and method Eleven elderly patients without stroke or neuromuscular disease participated (mean age: 72.6 ± 6.5). Tongue pressure was measured using a device (TPM-01, JMS, Hiroshima) equipped with a balloon probe. Tongue volume was evaluated with T1-weighted MR imaging. Tongue lean muscle mass was evaluated with Dixon MRI. The Pearson analysis was used to calculate coefficients between tongue pressure and tongue volume/lean tongue muscle mass. Results The mean tongue pressure, tongue volume and lean tongue muscle mass were 29.9 ± 8.1 kPa, 66.8 ± 12.3 cm3 and 56.2 ± 10.4 cm3. Tongue pressure was significantly correlated with tongue volume and lean tongue muscle mass (r = 0.60, P = 0.049 and r = 0.64, P = 0.035). Conclusion To our knowledge, this is the first study to investigate tongue muscle mass, lean tongue muscle mass and tongue pressure using MRI images. Tongue muscle mass and lean tongue muscle mass was significantly associated with tongue pressure. Compared with previous studies for healthy young adults (Utanohara, 2008; Fabrice, 2010), tongue pressure was decrease in spite of tongue volume was similar. Bassler (1987) suggested that the tongue volume after muscular atrophy is compensated by metaplasia of fatty tissue. We speculated that adipose might be an important factor for reducing tongue pressure and dysphagia.

Introduction: The BRAF mutation V600E, the most common somatic mutation in Langerhans cell histiocytosis (LCH), has been reported in approximately 50% of LCH patients and is associated with certain high-risk clinical features. Precursors harboring this mutation can differentiate into Langerhans cells resulting in infiltrates in multiple organs under inflammatory conditions. However, BRAF status in the bone marrow of pediatric LCH patients is unclear. The present study examined somatic mutations in paired tumor and bone marrow samples, using a highly sensitive assay involving next-generation targeted sequencing and droplet digital polymerase chain reaction (PCR) for pediatric LCH patients. Methods: Between 1996 and 2019, in total of 17 Japanese pediatric patients with LCH were enrolled. The male/female ratio was 7/11. Ages of onset of LCH were median 13 months (range 5-193 months). At diagnosis of LCH, 2 patients were positive for risk organ involvement, 15 were negative. We retrospectively performed mutational analyses of 17 LCH cases using formalin-fixed paraffin-embedded LCH tumor specimens to provide templates for PCR-based targeted amplicon sequencing with customized primers to detect mutations in exons 12 and 15 in BRAF, and exons 2 and 3 in MAP2K1. Thereafter, we identified somatic mutations in the 17 paired bone marrow samples via droplet digital allele-specific PCR, targeting BRAF V600E and BRAF exon 12 in-frame deletion 496-500 (Ex12 in-del). Results: We detected BRAF V600E in 11 of 17 tumor samples (65%) and the BRAF Ex 12 in-del in 3 of 17 tumors (18%). We identified BRAF V600E in bone marrow samples in 10 of the 11 cases (90%) with the mutation in the tumor at low variant allele frequency (median 0.25%, range 0.14-7.0%). BRAF Ex 12 in-del was not detected in the bone marrow. Cases with detectable bone marrow involvement included eight patients with multi-system disease affecting multiple organs, one patient with multi-focal bone disease, and one patient with single-system disease. Clinical phenotypes including relapse did not correlate with BRAF V600E upon detection in the bone marrow. Conclusion: We established the sensitive assay based on PCR-based targeted NGS for detecting somatic mutations in LCH even accessible for formalin-fixed, paraffin-embedded clinical specimens. Bone marrow involvement is frequently detectable at the molecular level in pediatric LCH with the BRAF V600E mutation. A prospective study is warranted to evaluate the clinical impact of mutational burden in bone marrow. Disclosures Kudo: Unum Therapeutics: Patents & Royalties. Imai:Juno Therapeutics: Patents & Royalties.

Hypoxic-ischemic encephalopathy is a typical cerebral disorder of newborn babies. For diagnosis of the neonatal cerebral disorders, the measurement of cerebral volume and surface area is effective for quantitatively evaluating the morphological change. The measurement needs brain segmentation process in magnetic resonance (MR) images. However, there are few studies for newborn brain segmentation. This study proposes an automated brain segmentation method for the newborn brain in MR images. The automated method can improve the diagnosis of the newborn cerebral disorders with efficiency and high accuracy. The proposed method first constructs fuzzy models using learning dataset. The fuzzy models express brain features by fuzzy membership functions. Next, the proposed method applies the deformable surface model based on the fuzzy models to subject's head MR images, and estimates the subject's brain region. To validate the proposed method, it has been applied to 10 newborn subjects (revised ages are − 1 month ...

A series of benzo[b]furan derivatives having a five-membered heterocyclic substituent at the 2-position were prepared from 2-(1-chloro-2-formylvinyl)benzo[b]furans (2) and 2-(4-alkylcarbamoylbuta-1,3-dienyl)benzo[b]furans. These 2-heterocyclic benzo[b]furans were evaluated for their cysteinyl leukotriene receptor (cysLT1, cysLT2) inhibitory activity. Several compounds showed moderate inhibition of calcium mobilization in HEK 293T-cysLT2 or CHO-cysLT1 cells.

Background Sensori-perceptual processing of emotional stimuli under attentive conditions effectively prevents response disinhibition. This is observed saliently in low-impulsive people, because of their high sensitivity to warning signals, such as emotional faces. Results from human neurophysiological studies have been used to develop a dual detector model for early sensori-perceptual processing. A transient detector mechanism is related to automatic neurophysiological arousal in response to warning signals, which is reflected by early frontal event-related potential effects. The memory-based detector mechanism is associated with subsequent mismatch negativity (MMN), which reflects a short-term memory trace of signals. Based on previous findings, we predicted that impulsivity affects functional associations among the dual detector mechanisms, and modulates early frontal and/or MMN activities. In the present study, we recorded electroencephalograms for twenty-one healthy adults using a visual oddball paradigm with neutral faces as frequent stimuli, and angry and happy faces as infrequent stimuli. We measured the impulsivity traits by a self-report scale (the Barratt Impulsiveness Scale, 11th version). Results Main findings were that only happy faces increased early frontal negativity and subsequent occipital visual MMN (vMMN) for emotional change, and these neurophysiological effects positively correlated with each other in a temporally causal manner. However, an impulsivity sub-trait positively correlated selectively with vMMN for the happy faces. Conclusion These findings demonstrate that higher impulsivity is associated with attenuated vMMN for emotional change detection in healthy populations, potentially because of weakened fronto-occipital functional connection that is responsible for the dual detector mechanism. Electronic supplementary material The online version of this article (doi:10.1186/s12868-015-0223-x) contains supplementary material, which is available to authorized users.

Magnetic resonance imaging (MRI) is often used to detect and treat neonatal cerebral disorders. However, neonatal MR image interpretation is limited by intra- and inter-observer variability. To reduce such variability, a template-based computer-aided diagnosis system is being developed, and several methods for creating templates were evaluated.Spatial normalization for each individual's MR images is used to accommodate the individual variation in brain shape. Because the conventional normalization uses as adult brain template, it can be difficult to analyze the neonatal brain, as there are large difference between the adult brain and the neonatal brain. This article investigates three approaches for defining a neonatal template for 1-week-old newborns for diagnosing neonatal cerebral disorders. The first approach uses an individual neonatal head as the template. The second approach applies skull stripping to the first approach, and the third approach produces a template by averaging brain MR images of 7 neonates. To validate the approaches, the normalization accuracy was evaluated using mutual information and anatomical landmarks.The experimental results of 7 neonates (revised age 5.6 ± 17.6 days) showed that normalization accuracy was significantly higher with the third approach than with the conventional adult template and the other two approaches (P 0.01).Three approaches to neonatal brain template matching for spinal normalization of MRI scans were applied, demonstrating that a population average gave the best results.

Cerebral surface extraction from neonatal MR images is the basic work of quantifying the deformation of the cerebrum. Although there are many conventional methods of segmenting the cerebral region, only the rough area is given by counting the number of surface voxels in the segmented region. This article proposes a new method of extraction that is based on the particle method. The method introduces three kinds of particles that correspond to cerebrospinal fluid, gray matter, and white matter; it converts the brain MR images into the set of particles. The proposed method was applied to neonatal magnetic resonance images, and the experimental results showed that the cerebral contour was extracted with a root-mean-square-error of 0.51 mm compared with the ground truth contour given by a physician.

To evaluate the diagnostic accuracy of computed tomography (CT)-based imaging methods for assessing renal vascular anatomy, imaging studies, including standard axial CT, three-dimensional volume-rendered CT (3DVR-CT), and a 3DVR-CT movie, were performed on 30 patients who underwent laparoscopic donor nephrectomy (10 right side, 20 left side) for predicting the location of the renal arteries and renal, adrenal, gonadal, and lumbar veins. These findings were compared with videos obtained during the operation. Two of 37 renal arteries observed intraoperatively were missed by standard axial CT and 3DVR-CT, whereas all arteries were identified by the 3DVR-CT movie. Two of 36 renal veins were missed by standard axial CT and 3DVR-CT, whereas 1 was missed by the 3DVR-CT movie. In 20 left renal hilar anatomical structures, 20 adrenal, 20 gonadal, and 22 lumbar veins were observed during the operation. Preoperatively, the standard axial CT, 3DVR-CT, and 3DVR-CT movie detected 11, 19, and 20 adrenal veins; 13, 14, and 19 gonadal veins; and 6, 11, and 15 lumbar veins, respectively. Overall, of 135 renal vascular structures, the standard axial CT, 3DVR-CT, and 3DVR-CT movie accurately detected 99 (73.3%), 113 (83.7%), and 126 (93.3%) vessels, respectively, which indicated that the 3DVR-CT movie demonstrated a significantly higher detection rate than other CT-based imaging methods (P < 0.05). The 3DVR-CT movie accurately provides essential information about the renal vascular anatomy before laparoscopic donor nephrectomy.