Publications by authors named "Yabe I"

Background: Pose estimation algorithms applied to two-dimensional videos evaluate gait disturbances; however, a few studies have used this method to evaluate ataxic gait.

Objective: The aim was to assess whether a pose estimation algorithm can predict the severity of cerebellar ataxia by applying it to gait videos.

Methods: We video-recorded 66 patients with degenerative cerebellar diseases performing the timed up-and-go test.

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An 82-year-old man presented with acute progressive disturbance of consciousness. We suspected autoimmune limbic encephalitis because of abnormal magnetic resonance imaging findings in the bilateral temporal lobes and cerebrospinal fluid pleocytosis. The patient tested positive for anti-Tr/Delta/Notch-like epidermal growth factor-related receptor (DNER) antibodies, and a tissue biopsy revealed complications of anaplastic large cell lymphoma.

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  • - Polymyalgia rheumatica (PMR) is an inflammatory disorder marked by muscle pain and stiffness, mainly affecting the hip and shoulder areas, with high levels of CRP and ESR, but its exact causes are still unclear.
  • - The report discusses three PMR patients who didn't respond well to standard treatments, presenting common symptoms such as muscle pain and weakness, and elevated CRP levels without increased creatine kinase.
  • - Examination of muscle samples from these patients revealed signs of vasculitis, suggesting that muscular limited vasculitis (MLV) could be a potential underlying issue in these difficult-to-treat PMR cases.
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  • Most dementia with Lewy bodies (DLB) typically progresses slowly, but some cases can present as rapidly progressive dementia (RPD), making diagnosis challenging.
  • A 70-year-old man with RPD and psychiatric issues was suspected to have Creutzfeldt-Jakob disease, but tests were negative; instead, he was ultimately diagnosed with DLB post-mortem.
  • The autopsy revealed extensive Lewy body deposits and significant amyloid plaques, suggesting that amyloid deposition may play a role in the clinical progression of RPD in certain DLB cases.
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Introduction: Alzheimer disease (AD) is the most common type of dementia, affecting 70% of patients with dementia. In Japan, over 5 million people aged 65 years and older had dementia in 2018, and this figure is expected to rise to 25% to 30% of this age group by 2045. In Japan, lecanemab, which was approved in 2023, is expected to be a new treatment for AD.

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The Japanese Society of Neurology's Special Committee on Measures for Transition from Pediatric to Adult Health Care held a workshop to discuss the activities of the transitional care support centers (TCSCs). The following points were addressed: (1) from Kanagawa Prefecture, the activities of the TCSC, which is set up alongside the Intractable Disease Consultation Support Center and the Intractable Disease Information Coordination Center, separated from medical institutions, and the efforts addressing cases of difficult transitions and consultations where patients cannot transition from specific pediatric chronic diseases to designated intractable diseases; (2) from Nagano Prefecture, the supporting the health care transition undertaken by the neurologist as intractable disease medical coordinator, and (3) the efforts of the transitional health care support coordinator at the TCSC established at the university hospital in collaboration with the Nagano Children's Hospital and the government. For the creation of a seamless support system, we hope that the pioneering activities reported at this time will spread nationwide.

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Background/objectives: Sporadic Creutzfeldt-Jakob disease (sCJD) is a fatal neurodegenerative disorder traditionally diagnosed based on the World Health Organization (WHO) criteria in 1998. Recently, Hermann et al. proposed updated diagnostic criteria incorporating advanced biomarkers to enhance early detection of sCJD.

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Clinical diagnosis of progressive supranuclear palsy (PSP) is difficult due to various phenotypes. Neuropathologically, PSP is defined by neuronal loss in the basal ganglia and brainstem with widespread occurrence of neurofibrillary tangles (NFTs) and accumulation of phosphorylated tau protein in neurons and glial cells in the brain. We previously identified the point mutation p.

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  • Chronic lymphoproliferative disorder of natural killer cells (CLPD-NK) is a rare disease with high NK cell counts that is often asymptomatic, but can lead to symptoms like fatigue, fever, and autoimmune diseases.
  • A 61-year-old male patient diagnosed with CLPD-NK experienced numbness and elevated protein levels in cerebrospinal fluid, indicating potential immunological issues, which were treated with steroids and immunoglobulin therapy.
  • Despite treatment alleviating some symptoms, the patient developed significant autonomic dysfunction, leading to issues like diarrhea and orthostatic hypotension, while tests for specific antibodies were negative, and a nerve biopsy suggested lymphocytic infiltration.
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  • In 2022, a survey was conducted to understand how hospitals in Japan handle secondary findings from genetic tests, updating information from a 2020 survey.
  • About 82% of hospitals replied, and they mostly used a specific guideline (CTGPMRSF) for sharing secondary findings.
  • The results showed that many hospitals had challenges like insurance issues and different levels of understanding of secondary findings, but the rates for confirmatory tests (tests to double-check findings) were improving, especially in places with genetic experts.
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Tauopathy is known to be a major pathognomonic finding in important neurodegenerative diseases such as progressive supranuclear palsy (PSP) and corticobasal degeneration. However, the mechanism by which tauopathy is triggered remains to be elucidated. We previously identified the point mutation c.

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  • The study investigates the use of pose estimation algorithms to distinguish between Parkinson's disease (PD) and spinocerebellar degeneration (SCD) through video analysis of patient gait.
  • Researchers recorded 82 PD patients and 61 SCD patients during a mobility test and utilized a deep neural network model trained on gait data to make predictions on the neurological disorder.
  • Results indicated high accuracy (0.86), sensitivity (0.94), and specificity (0.75) for differentiating PD from SCD, suggesting this method could be valuable in clinical settings and telemedicine for improved patient assessment.
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  • POEMS syndrome is a serious condition often linked to a poor prognosis, and elevated serum vascular endothelial growth factor (sVEGF) is a key diagnostic marker for it.
  • The connection between sVEGF levels and polyneuropathy in POEMS syndrome is debated.
  • A case study highlights that a patient initially showed no sVEGF elevation despite polyneuropathy but later tested positive, suggesting the need for ongoing sVEGF testing in atypical cases.
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The quasi-stationary jet, a branch of the Kuroshio Extension, transports warm saline water in the mixed water region of the western North Pacific. Around the subarctic front between the quasi-stationary jet and Oyashio and its downstream area is a biologically productive area including small pelagic fishes. However, how nutrient is supplied to the euphotic zone in this region remains elusive, especially into the quasi-stationary jet.

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  • - The study investigates how well conventional MRI can differentiate corticobasal degeneration (CBD) from its mimics due to similar clinical features.
  • - Researchers analyzed the degree of brain atrophy and asymmetry in MRI images of 19 CBD patients and 16 patients with conditions that mimic CBD, like Alzheimer's and progressive supranuclear palsy.
  • - Findings suggest that specific patterns of atrophy and the presence of white matter hyperintensity can be used as imaging biomarkers to help diagnose CBD more accurately.
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Objective: Inflammatory pseudotumor (IPT) is a rare, locally aggressive, benign neoplasm of unknown etiology. Because of its aggressive clinical behavior and locally destructive or infiltrative features, it may be mistaken for a malignant tumor. Approximately 5%-44% of extrapulmonary IPT occur in the head and neck, primarily affecting the orbit.

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  • Paraneoplastic neurological syndromes (PNS) are disorders linked to tumors, where anti-neural antibodies may be present, and cerebellar ataxia is a common example in breast cancer patients.
  • Improvement in symptoms has typically been observed in patients with positive anti-neural antibodies, but this case highlights a 78-year-old woman whose neurological symptoms improved after surgery for breast cancer despite negative antibody tests.
  • The patient’s ataxia was quantitatively assessed using the Scale for the Assessment and Rating of Ataxia (SARA), showing significant improvement post-surgery, suggesting that breast cancer treatment could benefit patients who are negative for anti-neural antibodies.
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River discharge to the ocean influences the transport of salts and nutrients and is a source of variability in water mass distribution and the elemental cycle. Recently, using an underwater glider, we detected thick, low-salinity water offshore for the first time, probably derived from coastal waters, in the central-eastern Sea of Japan, whose primary productivity is comparable to that of the western North Pacific. Thereafter, we aimed to investigate the offshore advection and diffusion of coastal water and its variability and assess their impact.

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  • Spinocerebellar ataxia type 10 (SCA10) is a genetic disorder marked by an expansion of the (ATTCT)n repeat in the ATXN10 gene, primarily found in Native American and Asian populations.
  • Researchers discovered a common genetic marker (rs41524547-G) associated with SCA10, which is located near a miRNA gene and is largely limited to the Americas and East Asia.
  • The study suggests that this marker can help identify individuals at risk for SCA10 and supports the idea of a single ancestral origin for SCA10 expansions, possibly linked to migrations across the Bering Land Bridge.
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  • This study investigated repeat expansion in patients with adult-onset cerebellar ataxia, focusing on the differences between Japanese and non-Japanese populations.
  • The researchers used nanopore sequencing to analyze samples from 460 Japanese patients and various control groups, finding that different repeat motifs (GCA in Japanese vs. GGA in non-Japanese) affect pathogenicity.
  • Ultimately, the study highlights how unique features of repeat expansion and genetic background contribute to the prevalence of the disease in different ethnic groups.
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