A5022847993- Mitochondrial Function and Pathology
- Neurogenetic and Muscular Disorders Research
- Amyotrophic Lateral Sclerosis Research
- Metabolism and Genetic Disorders
- Glioma Diagnosis and Treatment
- GDF15 and Related Biomarkers
- Lysosomal Storage Disorders Research
- RNA modifications and cancer
- Plant Virus Research Studies
- Brain Metastases and Treatment
- Connective tissue disorders research
- Peripheral Neuropathies and Disorders
- Protein Tyrosine Phosphatases
- RNA regulation and disease
- Restless Legs Syndrome Research
- Dysphagia Assessment and Management
- Muscle Physiology and Disorders
- Vasculitis and related conditions
- Polyomavirus and related diseases
- Myasthenia Gravis and Thymoma
- Cerebrovascular and genetic disorders
- Intracerebral and Subarachnoid Hemorrhage Research
- Viral Infections and Immunology Research
- Biotin and Related Studies
- Neurological diseases and metabolism
Toneyama National Hospital
2015-2024
National Hospital Organization
2015-2024
National Defense Medical College
2024
Osaka University
2009-2022
Osaka Police Hospital
2019-2021
University of Yamanashi
2020
National Center of Neurology and Psychiatry
2020
Yamaguchi University
2020
Shizuoka Medical Center
2020
In amyotrophic lateral sclerosis (ALS) there is emerging evidence for vasculature disturbance. The aim of this study was to investigate the area predominant disturbance in ALS. We used immunohistochemistry quantitatively evaluate microvascular density (MVD) and pericyte coverage (PC) lumbar spinal cord 25 ALS patients six controls. controls, MVD almost equal ventral horn (VH) dorsal (DH). VH ALS, significantly increased, PC decreased compared with DH controls (p < 0.001), possibly reflecting...
To elucidate the prevalence of Japanese ADSSL1 myopathy and determine clinicopathologic features disease.We searched for variants in myopathic patients from January 1978 to March 2019 our repository assessed with variants.We identified 63 59 families biallelic ADSSL1. Among 7 distinct identified, c.781G>A c.919delA accounted 53.2% 40.5% alleles, respectively, suggesting presence common founders, while other 5 were novel. Most displayed more variable muscle symptoms, including symptoms...
Abstract Background Locally recurrent rectal cancer (LRRC) involving the upper sacrum is typically incurable, and palliative treatment only option for most patients, resulting in a poor prognosis reduced quality of life. Carbon ion radiotherapy (CIRT) has emerged as promising modality treating LRRC. This report presents case LRRC with sacral involvement that was managed via multidisciplinary therapy incorporating CIRT. Case presentation A 55-year-old male diagnosed an anastomotic recurrence...
We investigated two autopsy cases of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes (MELAS) using immunohistochemical staining with an anti‐mitochondrial antibody against translocase the outer membrane 20 (TOMM20). In case 1, patient was a 42‐year‐old man disease duration 53 days, in 2, 62‐year‐old woman 27 months. both revealed moderate atrophy cerebrum cerebellum multifocal necrotizing lesions, irrespective vascular territory. Case 1 showed multiple areas...
We report an autopsy case of amyotrophic lateral sclerosis with L126S mutation in the superoxide dismutase 1 (SOD1) gene ( SOD1 ). The patient was a 69‐year‐old Japanese man without relevant family history, who initially presented slow progressive muscle weakness lower extremities upper motor neuron signs, and died respiratory failure 6 years after onset. Neuropathological examination revealed loss neurons degeneration Clarke's column commensurate that posterior spinocerebellar tract middle...
Abstract A 54‐year‐old man with diabetes mellitus presented fever, pain, muscle weakness, and sensory disturbances in the lower limbs. His serum C‐reactive protein level was markedly increased; However, no autoantibodies, other than anti‐glutamic acid decarboxylase antibody, were detected. Nerve conduction studies revealed axonal polyneuropathy. 18 F‐fluorodeoxyglucose positron emission tomography/computed tomography patchy uptake patterns specific to restricted lower‐limb vasculitis. The...
Encephalitis is very rare, but often fatal immune-related adverse event (irAE) of immune checkpoint inhibitors (ICIs). A 65-year-old Japanese woman was admitted to our hospital because general fatigue, chillness and high-grade fever for 4 days, 8 months after the initiation first-line pembrolizumab monotherapy metastatic pulmonary adenocarcinoma. On day 3, she suddenly presented delirium uncontrollable impaired consciousness. Although magnetic resonance imaging (MRI) did not suggest a...
The leading cause of death for patients with Duchenne muscular dystrophy (DMD), a progressive muscle disease, is heart failure. Prostaglandin (PG) D2, physiologically active fatty acid, synthesized from the precursor PGH2 by hematopoietic prostaglandin D synthase (HPGDS). Using DMD animal model (mdx mice), we previously found that HPGDS expression increased not only in injured but also heart. Moreover, inhibitors can slow progression injury and cardiomyopathy. However, location still...
症例は85歳男性.2017年夏から関節リウマチに対しサラゾスルファピリジン(salazosulfapyridine,以下SASPと略記)が開始された.2018年12月に左手指の筋力低下を自覚し,2ヶ月後には左上肢重度麻痺に至った.頭部MRIで右中心前回近傍白質に異常信号を認め,進行性多巣性白質脳症(progressive multifocal leukoencephalopathy,以下PMLと略記)が疑われた.髄液JCV-DNA陽性と脳生検で抗VP-1抗体免疫染色陽性細胞を確認し診断を確定した.被疑薬としてSASPを中止したところ,左上肢麻痺は速やかに改善傾向に転じ,自然経過で約1年後には正常機能に回復し,白質病巣の縮小も認めた.SASPによるPMLの既報告はないが,経過よりSASPの関与が疑われた.
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness due to degeneration of lower motor neurons in the anterior horn spinal cord. We analyzed autopsy findings a male patient with SMA type 2 who survived until 61 years age. Genetic analysis revealed homozygous deletion survival neuron (SMN) gene 1 (SMN1) exon 7, confirming diagnosis SMA. Results further analyses indicated that had two copies genuine SMN (SMN2) and one copy...
Abstract FGF21 and GDF15 are known as useful biomarkers for diagnosis of mitochondrial disorders, though their efficacy evaluating disease severity is not well established. We determined levels in a patient with disorder report our findings. Both were elevated at the initial stage then greatly increased progression. Furthermore, those decreased along improved clinical symptoms response to pyruvate therapy.
要旨：【目的】大都市における急性虚血性脳卒中に対する経静脈血栓溶解療法（tPA 療法）の現状を評価する．【方法】tPA 療法が認可された2005 年10 月11 日から2010 月10 日の5 年間に大阪市湾岸地域の基幹病院である当院でtPA 療法を施行した全症例につき，背景因子・病型・転帰を検討した．大都市の特徴を考察するため，当院地域居住症例と地域外症例に分け比較検討した．【結果】対象は105 例（年齢69.2±14.4 歳）で全虚血性脳血管障害の7.0％であり，地域住民数と比較したtPA 施行率は0.0088％であった．地域外症例に若年者が多く（P=0.0011），解離を疑う症例（7 例/46 例）が多かった．一方，地域居住症例には塞栓症が多かった．【結論】地域住民数と比較したtPA 療法施行率は比較的高く，大都市の特徴と考えられた．地域居住者と地域外症例の差は，大都市への日中の流入人口などの要因があると思われた．
症例は67歳女性．30歳頃から打撲や捻挫した部位に限局した一過性の浮腫や，顔面全体の腫脹が出現するエピソードがあった．47歳時に兄や父とともにC1-inhibitorの活性低下を指摘され，遺伝性血管神経性浮腫と診断された．2002年6月某日（62歳時）に運動性失語および右上肢の脱力が出現．頭部MRIにて左放線冠および左頭頂葉皮質下に梗塞巣を認めた．経食道心エコーにて卵円孔開存を認め，また経過中に肺塞栓症および下肢深部静脈血栓症の合併を認めたため，奇異性脳塞栓症と考えられた．遺伝性血管神経性浮腫患者では，C1-inhibitor活性が低下しており，その結果線溶系が抑制されるため，塞栓症発症のリスクが高くなる可能性があり注意が必要と考えられる．