Tokushima University / Educator and Researcher Directory --- Yamazaki, Hiroki

Field of Study

Subject of Study

Book / Paper

Book:

1.	Hiroki Yamazaki : 神経疾患 6．その他の末梢神経障害, 医歯薬出版株式会社, Sep. 2021.
2.	Hiroki Yamazaki : 神経疾患 4．神経変性疾患, 医歯薬出版株式会社, Sep. 2021.
3.	高松直子 and Hiroki Yamazaki : 神経疾患 3．遺伝性ニューロパチー, 医歯薬出版株式会社, Sep. 2021.
4.	Hiroki Yamazaki and 高松直子 : 神経疾患 2．自己免疫性・炎症性ニューロパチー, 医歯薬出版株式会社, Sep. 2021.
5.	Hiroki Yamazaki : 神経疾患 1．絞扼性ニューロパチー, 医歯薬出版株式会社, Sep. 2021.
6.	Hiroki Yamazaki : 頸神経根と腕神経叢, 医歯薬出版株式会社, Sep. 2021.

Academic Paper (Judged Full Paper):

1.	Hiroki Yamazaki, R Sato, Tomoyasu Matsubara, N Takamatsu, Yusuke Osaki, T Kanda and Yuishin Izumi : Sarcoid Neuropathy Presenting with Two Novel Ultrasound Findings of Increased Intraneural Blood Flow and Small Saphenous Vein Wall Thickening: A Case Report, Internal Medicine, 2025.
2.	Yusuke Osaki, Hiroyuki Nodera, Ryota Sato, Shotaro Haji, Koji Fujita, Ryosuke Miyamoto, Kohei Muto, Hiroki Yamazaki, Hiroyuki Morino, Takashi Kanda, Shigeo Murayama, Ryuji Kaji and Yuishin Izumi : Peripheral nerve excitability abnormalities in Neuronal Intranuclear Inclusion Disease: Assessment with histopathological analysis, Clinical Neurophysiology, 170, 156-167, 2024. (Summary) Neuronal Intranuclear Inclusion Disease (NIID) is a neurodegenerative disease affecting the central and peripheral nerves. We aimed to assess the pathophysiological features of peripheral nerve dysfunction in NIID. We observed six unrelated NIID patients through clinical records, nerve conduction studies, and multiple measures of motor nerve excitability. Additionally, we reviewed one NIID patientt who underwent a nerve biopsy. Control measures were obtained from 22 age-matched normal subjects. The NIID patients exhibited mild conduction slowing and distinct nerve excitability abnormalities, including a significant decrease in excitability through hyperpolarizing threshold electrotonus (TE) and increased overshoots in both depolarizing and hyperpolarizing conditions. Histopathology revealed thinly myelinated fibers and axonal degeneration. Mathematical modeling suggested that reduced leak conductance was the key factor contributing to the observed excitability changes. The findings indicate that NIID involves a complex interplay of axonal degeneration and myelin dysfunction, leading to unique peripheral nerve excitability changes. These results provide new insights into the pathophysiology of NIID. Nerve excitability testing offers insight into particular axonal excitability abnormalities especially combined with histopathologic studies. (Keyword) Axonal excitability / Myelin dysfunction / Neurodegenerative disorders / Neuronal intranuclear inclusion disease / Threshold tracking (Link to Publication Site) ● Publication site (DOI): 10.1016/j.clinph.2024.12.013 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 39724790 ● Summary page in Scopus @ Elsevier: 2-s2.0-85213072049 (DOI: 10.1016/j.clinph.2024.12.013, PubMed: 39724790, Elsevier: Scopus)
3.	Shusuke Yagi, Ryosuke Miyamoto, Masayoshi Tasaki, Hiroyuki Morino, Ryuji Otani, Muneyuki Kadota, Takayuki Ise, Hiroki Yamazaki, Kenya Kusunose, Koji Yamaguchi, Hirotsugu Yamada, Takeshi Soeki, Tetsuzo Wakatsuki, Daiju Fukuda, Mitsuharu Ueda and Masataka Sata : The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis., Human Genome Variation, 11, 1, 2024. (Summary) ApoA-I amyloidosis is an extremely rare form of systemic amyloidosis that commonly involves the heart, kidneys, and liver. ApoA-I amyloidosis is caused by amyloidogenic variants of APOA1 that are inherited in an autosomal dominant manner. Here, we report a 69-year-old man with sporadic cardiac amyloidosis who was born to consanguineous parents and carried a homozygous variant of p.Leu202Arg in APOA1. (Tokushima University Institutional Repository) ● Metadata: 2012255 (Link to Publication Site) ● Publication site (DOI): 10.1038/s41439-024-00288-7 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 39152105 ● Summary page in Scopus @ Elsevier: 2-s2.0-85201547622 (Tokushima University Institutional Repository: 2012255, DOI: 10.1038/s41439-024-00288-7, PubMed: 39152105, Elsevier: Scopus)
4.	Koji Fukushima, T Yoshida, Hiroki Yamazaki, N Takamatsu, T Nagai, Yusuke Osaki, Masafumi Harada, I Nishino, N Okiyama, K Sugie and Yuishin Izumi : Anti-NXP2 Antibody-positive Juvenile Dermatomyositis with Characteristic Fascial Thickening on Muscle Ultrasound and Improvement with Immunotherapy, Internal Medicine, 63, 12, 1813-1817, 2024. (Summary) We herein report a 12-year-old boy who presented with a fever, erythematous rash on the cheeks, back pain, and dysphagia. Blood tests revealed increased creatine kinase levels, and muscle ultrasonography (MUS) revealed characteristic fascial thickening in the lumbar paraspinal muscles, where myalgia was prominent. Sarcoplasmic expression of myxovirus-resistant protein A on a muscle biopsy and the presence of anti-nuclear matrix protein 2 (NXP2) antibodies confirmed the diagnosis of dermatomyositis. Prednisolone and intravenous immunoglobulin therapy improved the clinical and laboratory parameters as well as fascial thickening. MUS is useful for evaluating fasciitis associated with anti-NXP2 autoantibodies and monitoring therapeutic efficacy. (Keyword) Humans / Male / Child / Dermatomyositis / Autoantibodies / Ultrasonography / Immunoglobulins, Intravenous / Prednisolone / Immunotherapy / RNA-Binding Proteins / Treatment Outcome / Adenosine Triphosphatases / DNA-Binding Proteins (Link to Publication Site) ● Publication site (DOI): 10.2169/internalmedicine.2720-23 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 37926535 ● Search Scopus @ Elsevier (PMID): 37926535 ● Search Scopus @ Elsevier (DOI): 10.2169/internalmedicine.2720-23 (DOI: 10.2169/internalmedicine.2720-23, PubMed: 37926535)
5.	Yuki Yamamoto, Koji Fujita, Hiroki Yamazaki, Shotaro Haji, Yusuke Osaki and Yuishin Izumi : Constipation in patients with motor neuron disease: A retrospective longitudinal study, Heliyon, 10, 6, e27951, 2024. (Keyword) Amyotrophic lateral sclerosis / Constipation / Enteral nutrition / Motor neuron disease (Link to Publication Site) ● Publication site (DOI): 10.1016/j.heliyon.2024.e27951 (Link to Search Site for Scientific Articles) ● Summary page in Scopus @ Elsevier: 2-s2.0-85188015432 (DOI: 10.1016/j.heliyon.2024.e27951, Elsevier: Scopus)
6.	Yoshiteru Tada, Toshitaka Fujihara, Izumi Yamaguchi, Masaaki Korai, Shu Sogabe, Mai Azumi, Eiji Shikata, Koji Bando, Kohhei Nakajima, Kenji Shimada, Nobuaki Yamamoto, Hiroki Yamazaki, Yuishin Izumi, Masafumi Harada, Yasuhisa Kanematsu and Yasushi Takagi : Nonconvulsive status epilepticus in patients with acute subarachnoid hemorrhage is associated with negative arterial spin labeling on peri-ictal magnetic resonance images, Heliyon, 10, 2, E24754, 2024. (Keyword) Arterial spin labeling / Nonconvulsive status epilepticus / Subarachnoid hemorrhage (Link to Publication Site) ● Publication site (DOI): 10.1016/j.heliyon.2024.e24754 (Link to Search Site for Scientific Articles) ● Summary page in Scopus @ Elsevier: 2-s2.0-85182583112 (DOI: 10.1016/j.heliyon.2024.e24754, Elsevier: Scopus)
7.	Yuishin Izumi, Tomoyasu Matsubara, Hiroki Yamazaki and Hiroyuki Morino : 筋萎縮性側索硬化症の核酸医薬, 脳神経内科, 101, 2, 164-169, 2024.
8.	Hiroki Yamazaki, 吉田剛, 髙松直子 and Yuishin Izumi : 筋疾患の診断における筋超音波検査, Neurosonology, 37, 1, 21-28, 2024.
9.	Koji Fukushima, T Yoshida, Hiroki Yamazaki, N Takamatsu, T Nagai, Yusuke Osaki, Masafumi Harada, I Nishino, N Okiyama, K Sugie and Yuishin Izumi : A Case of Anti-NXP2 Antibody-positive Juvenile Dermatomyositis with Characteristic Fascial Thickening on Muscle Ultrasound and Improvement with Immunotherapy, Internal Medicine, 2023. (Summary) We herein report a 12-year-old boy who presented with a fever, erythematous rash on the cheeks, back pain, and dysphagia. Blood tests revealed increased creatine kinase levels, and muscle ultrasonography (MUS) revealed characteristic fascial thickening in the lumbar paraspinal muscles, where myalgia was prominent. Sarcoplasmic expression of myxovirus-resistant protein A on a muscle biopsy and the presence of anti-nuclear matrix protein 2 (NXP2) antibodies confirmed the diagnosis of dermatomyositis. Prednisolone and intravenous immunoglobulin therapy improved the clinical and laboratory parameters as well as fascial thickening. MUS is useful for evaluating fasciitis associated with anti-NXP2 autoantibodies and monitoring therapeutic efficacy. (Tokushima University Institutional Repository) ● Metadata: 2012823 (Link to Publication Site) ● Publication site (DOI): 10.2169/internalmedicine.2720-23 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 37926535 ● Search Scopus @ Elsevier (PMID): 37926535 ● Search Scopus @ Elsevier (DOI): 10.2169/internalmedicine.2720-23 (Tokushima University Institutional Repository: 2012823, DOI: 10.2169/internalmedicine.2720-23, PubMed: 37926535)
10.	Takeshi Yoshida, Hiroki Yamazaki, Y Nishimori, Naoko Takamatsu, Koji Fukushima, Yusuke Osaki, Y Taniguchi, T Nozaki, Y Kumon, J Albayda, I Nishino and Yuishin Izumi : Correlation of muscle ultrasound with clinical and pathological findings in idiopathic inflammatory myopathies, Muscle & Nerve, 68, 1, 39-47, 2023. (Summary) In idiopathic inflammatory myopathies (IIMs), the change in muscle echogenicity and its histopathological basis are not well understood. We quantitatively measured muscle echogenicity in patients with IIMs and evaluated its correlation with disease activity and histopathological findings. This study involved patients with IIMs who underwent both ultrasonography (US) and muscle biopsy, as well as age- and sex-matched rheumatoid arthritis patients as inflammatory disease controls. On US, axial images of the right biceps brachii and vastus medialis were obtained. Standardized histopathological scoring was used to quantitatively measure each pathological domain. Forty-two patients (17 with inclusion body myositis [IBM] and 25 with IIMs other than IBM) and 25 controls were included. The muscle echo intensity (EI) of patients with IIMs was significantly higher than that of controls. Muscle EI showed significant correlations with creatine kinase (r = 0.66, p < .001) and muscle strength (r = -0.73, p < .0001) in patients with non-IBM IIMs. In patients with IBM, moderate correlation was found between muscle EI and quadriceps muscle strength (r = -0.53, p = .028). Histopathologically, the number of infiltrating CD3+ inflammatory cells correlated with muscle EI in the non-IBM group (r = 0.56, p = .017), but not in the IBM group. Muscle EI may be useful as a surrogate marker of muscle inflammation in non-IBM IIM. Increased muscle EI may be difficult to interpret in patients with long-standing IBM, which has advanced and complex histopathology. (Keyword) Humans / Myositis / Muscle, Skeletal / Myositis, Inclusion Body / Ultrasonography / Muscle Strength (Link to Publication Site) ● Publication site (DOI): 10.1002/mus.27833 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 37118940 ● Summary page in Scopus @ Elsevier: 2-s2.0-85158067048 (DOI: 10.1002/mus.27833, PubMed: 37118940, Elsevier: Scopus)
11.	M Higashihara, Hiroki Yamazaki, Yuishin Izumi, M Kobayashi, Hiroyuki Nodera, C Oishi, A Iwata, S Murayama, Ryuji Kaji and M Sonoo : Far-field potential of the compound muscle action potential as a reliable marker in amyotrophic lateral sclerosis, Muscle & Nerve, 68, 3, 257-263, 2023. (Summary) Reliable neurophysiological markers in amyotrophic lateral sclerosis (ALS) are of great interest. The compound muscle action potential (CMAP) amplitude has been a conventional marker, although it is greatly influenced by the electrode position. We propose the far-field potential of the CMAP (FFP-CMAP) as a new neurophysiological marker in ALS. Patients with ALS and age-matched healthy controls were enrolled. We used a proximal reference (pref) in addition to the conventional distal reference (dref). Routine CMAP was recorded from the belly-dref lead and FFP-CMAP from the dref-pref lead for the ulnar and tibial nerves. Multiple point stimulation motor unit number estimation (MUNE) was also examined in the ulnar nerve. Inter-rater reproducibility was evaluated by two examiners, and some patients were followed up every 3 mo for 1 y. We tested 17 patients with ALS and 10 controls. The amplitudes of routine CMAP and FFP-CMAP in the ulnar and tibial nerves, and hypothenar MUNE value in the ulnar nerve were significantly decreased in ALS compared to controls. Ulnar FFP-CMAP achieved the highest inter-rater intraclass correlation coefficient (ICC) value (0.942) when compared with routine CMAP (0.880) and MUNE (0.839). The tibial FFP-CMAP had a higher ICC value (0.986) than the routine CMAP (0.697). In this way, the FFP-CMAP showed high inter-rater reproducibility because its shape was not much influenced by the electrode position. During 1-y follow-up, decline of CMAP, FFP, and MUNE showed significant correlations with the Amyotrophic Lateral Sclerosis Functional Rating Scale - Revised (ALSFRS-R). The FFP-CMAP shows promise as a reliable marker for ALS. (Link to Publication Site) ● Publication site (DOI): 10.1002/mus.27829 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 37086196 ● Search Scopus @ Elsevier (PMID): 37086196 ● Search Scopus @ Elsevier (DOI): 10.1002/mus.27829 (DOI: 10.1002/mus.27829, PubMed: 37086196)
12.	Naoko Matsui, Mika Takahara, Hiroki Yamazaki, Naoko Takamatsu, Yusuke Osaki, Ryuji Kaji, Ichizo Nishino, Satoshi Yamashita and Yuishin Izumi : A case of anti-NT5c1A antibody-seropositive inclusion body myositis associated with severe dysphagia and prominent forearm weakness, Neurology and Clinical Neuroscience, 11, 1, 46-48, 2022. (Link to Publication Site) ● Publication site (DOI): 10.1111/ncn3.12678 (Link to Search Site for Scientific Articles) ● Search Scopus @ Elsevier (DOI): 10.1111/ncn3.12678 (DOI: 10.1111/ncn3.12678)
13.	Hiroki Yamazaki, Naoko Matsui, N Takamatsu, Takeshi Yoshida, Koji Fukushima, T Takata, Yusuke Osaki, K Tanaka, Y Kubo and Yuishin Izumi : Application of ultrasound in a case of eosinophilic fasciitis mimicking stiff-person syndrome, Neuromuscular Disorders, 32, 7, 590-593, 2022. (Summary) Eosinophilic fasciitis (EF) is a rare disorder characterized by muscle stiffness mimicking other neuromuscular diseases. The diagnosis of EF is made on the basis of typical skin lesions. We report a case of a 36-year-old male patient with suspected stiff-person syndrome (SPS), who presented with progressive limb muscle stiffness and limited mobility of both wrists without obvious skin changes. Ultrasound revealed fascial thickening of bilateral upper and lower limb muscles and enlargement of hypoechoic tissues around the flexor digitorum tendons of the wrist. Skin and fascia biopsy confirmed the diagnosis of EF. Prednisolone therapy resulted in the improvement of muscle stiffness and tightness. Our findings suggest the need to consider connective tissue diseases such as EF in a patient with atypical features of SPS. Ultrasound is helpful for visualizing the causes of muscle stiffness and joint contractures in EF patients. (Keyword) Adult / Eosinophilia / Fasciitis / Humans / Male / Prednisolone / Stiff-Person Syndrome (Link to Publication Site) ● Publication site (DOI): 10.1016/j.nmd.2022.05.009 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 35672204 ● Search Scopus @ Elsevier (PMID): 35672204 ● Search Scopus @ Elsevier (DOI): 10.1016/j.nmd.2022.05.009 (DOI: 10.1016/j.nmd.2022.05.009, PubMed: 35672204)
14.	Koji Fukushima, Naoko Takamatsu, Yuki Yamamoto, Hiroki Yamazaki, Takeshi Yoshida, Yusuke Osaki, Shotaro Haji, Koji Fujita, Kazuma Sugie and Yuishin Izumi : Early diagnosis of amyotrophic lateral sclerosis based on fasciculations in muscle ultrasonography: A machine learning approach., Clinical Neurophysiology, 140, 136-144, 2022. (Summary) Fasciculation detected in relevant muscles on MUS can contribute to the diagnosis of ALS from the early stage. (Link to Publication Site) ● Publication site (DOI): 10.1016/j.clinph.2022.06.005 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 35772191 ● Search Scopus @ Elsevier (PMID): 35772191 ● Search Scopus @ Elsevier (DOI): 10.1016/j.clinph.2022.06.005 (DOI: 10.1016/j.clinph.2022.06.005, PubMed: 35772191)
15.	Yoshiteru Tada, Toshitaka Fujihara, Kenji Shimada, Nobuaki Yamamoto, Hiroki Yamazaki, Yuishin Izumi, Masafumi Harada, Yasuhisa Kanematsu and Yasushi Takagi : Seizure types associated with negative arterial spin labeling and positive diffusion-weighted imaging on peri-ictal magnetic resonance imaging, Journal of the Neurological Sciences, 436, 1-8, 2022. (Summary) Arterial spin labeling (ASL) and diffusion-weighted imaging (DWI) are useful for assessing hyperperfusion and cytotoxic edema, respectively, caused by acute seizures. This study investigated the clinical characteristics associated with normal ASL findings and DWI abnormalities in patients with acute seizures. Overall, 41 patients with ASL and DWI images that were obtained within 48 h of focal onset seizure diagnosis, due to epilepsy or acute symptomatic seizures, were divided into groups based on initial ASL findings (ASL-negative vs. ASL-positive), and DWI abnormalities (DWI-negative vs. DWI-positive). The diagnosis was made based on seizure semiology, electroencephalography, and conventional imaging modalities. ASL and DWI abnormalities were based on visual assessment. Of the 41 patients, eight (19.5%) displayed normal ASL findings. The proportion of patients with focal aware seizures (FAS) was significantly higher among ASL-negative patients (62.5%) than that in ASL-positive patients (15.2%); the proportion of patients with focal impaired awareness seizures (FIAS) was significantly lower among ASL-negative patients (12.5%) than that among ASL-positive patients (57.6%). Hyperintensity findings on DWI were observed in 12 patients (29.3%, DWI-positive). The proportion of patients with FIAS was significantly higher among DWI-positive patients (75.0%) than that among DWI-negative patients (37.9%). Multivariate analysis revealed that FAS and FIAS were associated with normal ASL findings (odds ratio [OR]: 21.37, P = 0.010) and DWI abnormalities (OR = 6.11, P = 0.028). A diagnosis of seizures should not be excluded based on normal ASL findings, especially in patients with FAS. FIAS may be a risk factor for neuronal damage caused by seizure activity. (Link to Publication Site) ● Publication site (DOI): 10.1016/j.jns.2022.120223 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 35279594 ● Summary page in Scopus @ Elsevier: 2-s2.0-85126008460 (DOI: 10.1016/j.jns.2022.120223, PubMed: 35279594, Elsevier: Scopus)
16.	Yusuke Osaki, 島かさ音, Nobuaki Yamamoto, Hiroki Yamazaki, Kenta Sato and Yuishin Izumi : 血管炎性ニューロパチー様の臨床像で発症した抗Hu抗体陽性脳脊髄炎の1例, Peripheral Nerve, 33, 1, 136-143, 2022. (Keyword) 傍腫瘍性神経症候群 / 抗Hu抗体 / 非対称性ニューロパチー / paraneoplastic neurological syndrome / anti-Hu antibody / asymmetric neuropathy (Link to Search Site for Scientific Articles) ● CiNii @ National Institute of Informatics (CRID): 1520013010160046720 (CiNii: 1520013010160046720)
17.	CT Suratos, N Takamatsu, Hiroki Yamazaki, Yusuke Osaki, T Fukumoto, Hiroyuki Nodera and Yuishin Izumi : Utility of phrenic nerve ultrasound in amyotrophic lateral sclerosis, Acta Neurologica Belgica, 121, 1, 225-230, 2021. (Tokushima University Institutional Repository) ● Metadata: 2009186 (Link to Publication Site) ● Publication site (DOI): 10.1007/s13760-020-01531-y (Link to Search Site for Scientific Articles) ● Summary page in Scopus @ Elsevier: 2-s2.0-85094859144 (Tokushima University Institutional Repository: 2009186, DOI: 10.1007/s13760-020-01531-y, Elsevier: Scopus)
18.	Hiroki Yamazaki, 高松直子, Hiroyuki Nodera, Taku Matsuda, Hideo Mure, 安田宗義 and Yuishin Izumi : 神経超音波を用いた症状誘発肢位での動的評価が診断の一助となった真の神経原性胸部出口症候群の1例, Japanese Journal of Clinical Neurophysiology, 49, 6, 85-88, 2021.
19.	高松直子, Yusuke Osaki, Hiroki Yamazaki, Kazutaka Kuroda, Hirohisa Ogawa, Hisanori Uehara, Koichi Tsuneyama, Hiroyuki Nodera and Yuishin Izumi : A case of led to diagnosis of malignancy by brachial plexus ultrasonography, Neurosonology, 33, 2, 36-40, 2020. (Summary) A 72-year-old man admitted to our hospital due to severe pain and drop hand in the left arm. MRI and CT of the head and neck at an outside hospital showed no abnormality. Neurological findings revealed distal weakness in the left upper extremity, vague pain between the radial aspect of the left hand and the middle of the digits 1-3, as well as brisk reflexes in the left extremities. Small masses were palpable in the posterior neck, the lower jaw, and the left neck. Clinically, left radial neuropathy and cervical radiculopathy were suspected. We performed ultrasound of the nerve roots, brachial plexus, and the radial nerve. There was a mass compressing the left brachial plexus from the caudolateral direction. Additionally, nerve swelling in the left arm was identified. Skin biopsy over the mass suggested metastatic adenocarcinoma. Chest CT scan showed a mass in the upper right lobe suggestive of a lung cancer. We concluded that the pain was due to radial neuropathy and upper and middle trunk disturbance of the left brachial plexopathy, of which neuromuscular ultrasound was useful in diagnosis. (Keyword) upper limb pain / brachial plexus ultrasound / metastasis (Link to Publication Site) ● Publication site (DOI): 10.2301/neurosonology.33.36 (Link to Search Site for Scientific Articles) ● CiNii @ National Institute of Informatics (CRID): 1390567172576336384 ● Search Scopus @ Elsevier (DOI): 10.2301/neurosonology.33.36 (DOI: 10.2301/neurosonology.33.36, CiNii: 1390567172576336384)
20.	Toshitaka Kawarai, Hiroki Yamazaki, Ryosuke Miyamoto, Naoko Takamatsu, Atsuko Mori, Yusuke Osaki, Antonio Orlacchio, Hiroyuki Nodera, Akihiro Hashiguchi, Yujiro Higuchi, Akiko Yoshimura, Hiroshi Takashima and Ryuji Kaji : PMP22-related disease: A novel splice site acceptor variant and intrafamilial phenotype variability., Neuromuscular Disorders, 26, 6, 422-426, 2019. (Summary) PMP22 is the most frequent mutated gene in Charcot-Marie-Tooth disease (CMT) type 1A. Another phenotype, hereditary neuropathy with pressure palsies (HNPP), could be caused by PMP22 mutations. PMP22 encodes a peripheral myelin protein with molecular weight 22-kDa. Various pathomechanisms have been postulated in PMP22-related disease, including dysfunction due to missense mutations, and alteration of a gene dose due to duplication/deletion mutations. We identified a novel PMP22 splice site acceptor variant, c.179-1G>A, in a patient with adult-onset chronic generalized polyneuropathy and two asymptomatic family members. Pathophysiological features of the members mainly overlapped with those reported in HNPP, but broad intrafamilial clinical variations were observed. PMP22 transcripts lacking of exon 4 were produced by the variant, presumably leading to in-frame deletion of 47 amino acids. The variant was also shown to exert effect on dosage of PMP22 mRNA. The complex molecular pathology would lead to the unique clinical and pathophysiological conditions. (Keyword) Adult / family / female / Gene Dosage / Hereditary Sensory and Motor Neuropathy / Humans / male / Middle Aged / Mutation / Myelin Proteins / Pedigree / Phenotype / Polyneuropathies / RNA Splice Sites (Link to Publication Site) ● Publication site (DOI): 10.1016/j.nmd.2019.03.010 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 31122831 ● Summary page in Scopus @ Elsevier: 2-s2.0-85065707113 (DOI: 10.1016/j.nmd.2019.03.010, PubMed: 31122831, Elsevier: Scopus)

Review, Commentary:

1.	Hiroki Yamazaki, 髙松直子 and Yuishin Izumi : 検査から見る神経疾患横隔膜のエコー検査, Clinical Neuroscience, 41, 9, 1244-1246, Sep. 2023.
2.	Hiroki Yamazaki, 高松直子 and Yuishin Izumi : 圧迫性神経障害，慢性炎症性脱髄性多発神経炎, Clinical Neuroscience, 40, 2, 186-191, 2022.
3.	Hiroki Yamazaki, 高松直子 and Yuishin Izumi : 異常筋萎縮, Clinical Neuroscience, 38, 11, 1446-1448, 2020.

Proceeding of International Conference:

1.	Hiroki Yamazaki, N Takamatsu, Koji Fukushima, Takeshi Yoshida, Yusuke Osaki and Yuishin Izumi : Application of nerve ultrasound for early diagnosis of ALS focus on brachial plexus, Pan-Asia Consortium for Treatment and Research in ALS (PACTALS) 2021 NAGOYA, Nagoya, Sep. 2021.
2.	Koji Fukushima, N Takamatsu, Hiroki Yamazaki, Yusuke Osaki, Takeshi Yoshida, K Sugie and Yuishin Izumi : The specificity of faciculations in brainstem and thoracic region detected by muscle ultrasonography in ALS, A comparative muscle ultrasonographic investigation of 100 ALS patients and 100 non-ALS patients, Pan-Asia Consortium for Treatment and Research in ALS (PACTALS) 2021 NAGOYA, Nagoya, Sep. 2021.
3.	Yoshiteru Tada, Toshitaka Fujihara, Kenji Shimada, Nobuaki Yamamoto, Hiroki Yamazaki, Yuishin Izumi, Masafumi Harada, Yasuhisa Kanematsu and Yasushi Takagi : Peri-ictal normal arterial spin labeling imaging in patients with seizures, 13 回アジア・オセアニアてんかん学会(13th AOEC), Jun. 2021.

Proceeding of Domestic Conference:

1.	K Hanada, Shotaro Haji, Koji Fukushima, Hiroki Yamazaki, Yusuke Osaki, N Takamatsu, Koji Fujita and Yuishin Izumi : Aging of amyotrophic lateral sclerosis onset: analysis of cases originating in 2011-2020, 第66回日本神経学会学術大会, May 2025.
2.	Naoko Matsui, Tatsuya Fukumoto, Hiroki Yamazaki, Yusuke Osaki, 田中恵子 and Yuishin Izumi : スティッフパーソン症候群疑い症例に関する検討, 第66回日本神経学会学術大会, May 2025.
3.	Hiroki Yamazaki, Takeshi Yoshida, Yuki Matsumoto, 髙松直子, Yuki Kanazawa, 公文義雄, Yusuke Osaki, Hiroshi Kawano, 西野一三, Yasuhiko Nishioka, Masafumi Harada and Yuishin Izumi : 筋炎における超音波画像とMRI画像の同時定量分析, 第66回日本神経学会学術大会, May 2025.
4.	Naoko Matsui, 木原直輝, Hiroki Yamazaki, Yuki Yamamoto, Kenta Sato, Koji Fujita and Yuishin Izumi : 卵巣奇形種の診断までに時間を要した抗NMDA受容体脳炎の1例, 第36回日本神経免疫学会学術集会, Oct. 2024.
5.	YAMAKAMI Kei, Tomoyasu Matsubara, Hiroki Yamazaki, Koji Fujita, Masafumi Harada, 中道一生, 齋藤祐子, 村山繁雄 and Yuishin Izumi : 小脳・脳幹部優位のHIV関連進行性多巣性白質脳症を呈し呼吸不全で死亡した51歳男性の剖検例, 第65回日本神経病理学会総会学術研究会, May 2024.
6.	Hiroki Yamazaki, Tomoyasu Matsubara, 髙松直子, Yusuke Osaki, 佐藤亮太, 神田隆 and Yuishin Izumi : 超音波検査所見がきっかけで神経生検を行い診断に繋がった神経サルコイドーシスの1例, 第65回日本神経病理学会総会学術研究会, May 2024.
7.	Naoki Kihara, Hiroki Yamazaki, KURODA Kazutaka, Tatsuya Fukumoto, Tomoyasu Matsubara, Shotaro Haji, Ryosuke Miyamoto, Nobuaki Yamamoto, Koji Fujita, Naoko Matsui and Yuishin Izumi : 卵巣奇形腫の診断までに時間を要した抗 NMDA 受容体脳炎の1例, 第15回四国神経懇話会, Feb. 2024.
8.	Yoshiteru Tada, Toshitaka Fujihara, 泉千恵, 福田直也, Masahito Nakataki, Tatsuo Mori, Hiroki Yamazaki and Yasushi Takagi : 「誰も取り残さない」てんかんの医療費助成・福祉サービスの提供, 第56回日本てんかん学会学術集会, Oct. 2023.
9.	YAMAKAMI Kei, Tomoyasu Matsubara, Hiroki Yamazaki, Koji Fujita, Masafumi Harada, 中道一生, 齋藤祐子, 村山繁雄 and Yuishin Izumi : 小脳・脳幹部優位のHIV関連進行性多巣性白質脳症を呈し呼吸不全で死亡した51歳男性例, 第27回日本神経感染症学会総会・学術大会, Oct. 2023.
10.	Hiroki Yamazaki, 髙松直子 and Yuishin Izumi : 筋疾患に対する超音波検査のアプローチ, 第42回日本脳神経超音波学会総会, Jun. 2023.
11.	Hiroki Yamazaki, 髙松直子, Koji Fukushima, HANADA Kenta, Yusuke Osaki and Yuishin Izumi : 発症早期ALSの診断における神経超音波を用いた脳神経叢評価の有用性, 第64回日本神経学会学術大会, May 2023.
12.	Hiroki Yamazaki, 髙松直子, Yusuke Osaki and Yuishin Izumi : どこまで追うべき!? 神経超音波によるuncommon nerveの描出の有用性, 第64回日本神経学会学術大会, May 2023.
13.	Tatsuo Mori, Yoshiteru Tada, Masahito Nakataki, Takahiro Tayama, Aya Gohji, Yoshihiro Touda, Toshitaka Fujihara, Hiroki Yamazaki and Kenji Mori : 徳島大学病院てんかんセンターにおけるトランジションの現状と今後の課題, 第10回全国てんかんセンター協議会総会栃木大会 2023, Mar. 2023.
14.	Yoshiteru Tada, Masahito Nakataki, Tatsuo Mori, Toshitaka Fujihara, Aya Gohji, Hiroki Yamazaki, 泉千恵, 高尾里沙, 多田雅美, 阿部修司, Kenji Mori and Yasushi Takagi : 地方におけるてんかん支援拠点病院の役割, 第10回全国てんかんセンター協議会, Feb. 2023.
15.	YAMAKAMI Kei, HANADA Kenta, Yuki Yamamoto, Hiroki Yamazaki, Yusuke Osaki, Naoko Matsui, Koji Fujita and Yuishin Izumi : 尿閉・便秘を呈したフィッシャー症候群の34歳男性例, 第112回日本神経学会中国・四国地方会, Dec. 2022.
16.	東原真奈, Hiroki Yamazaki, Yuishin Izumi, 大石知瑞子, Hiroyuki Nodera, 村山繁雄, Ryuji Kaji and 園生雅弘 : 遠隔電場電位CMAPはALSにおける信頼性の高い電気生理マーカーである, 日本臨床神経生理学会第52回学術大会, Nov. 2022.
17.	谷美紀, Yusuke Osaki, Hiroki Yamazaki, Koji Fukushima and Yuishin Izumi : 3回目の筋電図検査で診断に至った抗MuSK抗体陽性重症筋無力症の一例, 日本臨床神経生理学会第52回学術大会, Nov. 2022.
18.	HANADA Kenta, Hiroki Yamazaki, 高松直子, Yusuke Osaki and Yuishin Izumi : 神経超音波検査で評価したneurolymphomatosisの1例,, 日本臨床神経生理学会第52回学術大会, Nov. 2022.
19.	Yusuke Osaki, Hiroyuki Nodera, Hiroki Yamazaki, 高松直子, Ryuji Kaji and Yuishin Izumi : 誤診から学ぶ筋電図検査筋電図検査前の診断が困難な神経筋疾患同疾患3症例の提示, 日本臨床神経生理学会第52回学術大会, Nov. 2022.
20.	Yusuke Osaki, Hiroyuki Nodera, Hiroki Yamazaki and Yuishin Izumi : 神経筋疾患の問題症例下肢近位筋・遠位筋筋力低下を来した脱髄性多発ニューロパチーの一例, 日本臨床神経生理学会第52回学術大会, Nov. 2022.
21.	Naoko Matsui, Hiroki Yamazaki, 高松直子, Takeshi Yoshida, Koji Fukushima, 高田忠幸, Yusuke Osaki, 田中惠子, 久保宣明 and Yuishin Izumi : Stiff-person症候群との鑑別に筋超音波検査が有用であった好酸球性筋膜炎の一例,, 日本臨床神経生理学会第52回学術大会, Nov. 2022.
22.	Naoko Matsui, Hiroki Yamazaki, 高松直子, Takeshi Yoshida, Koji Fukushima, 高田忠幸, Yusuke Osaki, 田中惠子, 久保宣明 and Yuishin Izumi : Stiff-person症候群との鑑別に筋超音波検査が有用であった好酸球性筋膜炎の一例, 第34回日本神経免疫学会学術集会, Oct. 2022.
23.	Hiroki Yamazaki, 高松直子, Koji Fukushima, Takeshi Yoshida, Yusuke Osaki and Yuishin Izumi : 脱髄性ニューロパチーの補助診断における神経超音波を用いた腕神経叢評価の有用性, 第63回日本神経学会学術大会, May 2022.
24.	Koji Fukushima, 高松直子, Yuki Yamamoto, Hiroki Yamazaki, Takeshi Yoshida, Shotaro Haji, Yusuke Osaki, Koji Fujita, 杉江和馬 and Yuishin Izumi : 筋超音波検査の線維束性収縮に基づく筋萎縮性側索硬化症の診断マーカー, 第63回日本神経学会学術大会, May 2022.
25.	M Higahibara, Hiroki Yamazaki, Yuishin Izumi, C Oishi, T Chiba, Hiroyuki Nodera, S Murayama, Ryuji Kaji and M Sonoo : Far-field potential of CMAP (FFP-CMAP) as a reliable neurophysiological marker in ALS, 第63回日本神経学会学術大会, May 2022.
26.	高尾里沙, 多田雅美, 安部修司, Masahito Nakataki, Tatsuo Mori, Toshitaka Fujihara, Yoshiteru Tada, Hiroki Yamazaki and Kenji Mori : てんかん相談における徳島県の現状の把握と今後の課題., 第9回全国てんかんセンター協議会総会鹿児島大会, Mar. 2022.
27.	Yoshiteru Tada, Masahito Nakataki, Tatsuo Mori, Toshitaka Fujihara, Aya Gohji, Hiroki Yamazaki, 高尾里沙, 泉千恵, 多田雅美, 安部修司 and Kenji Mori : 今後の徳島県におけるてんかん地域診療連携整備事業の展望について, 第9回全国てんかんセンター協議会総会, Mar. 2022.
28.	Hiroki Yamazaki : ALSへの神経筋エコー:文献レビューと腕神経叢に着目した臨床応用, 第12回神経筋超音波研究会特別講演, Dec. 2021.
29.	Yusuke Osaki, 島かさ音, Nobuaki Yamamoto, Hiroki Yamazaki, Kenta Sato and Yuishin Izumi : 非対称性ニューロパチー様の臨床像で発症した抗Hu抗体陽性脳脊髄炎の一例, 第32回日本末梢神経学会学術集会, Sep. 2021.
30.	Hiroki Yamazaki : 歩行可能にも関わらず呼吸不全に至った抗ミトコンドリアM2抗体陽性ミオパチーの1例, 第109回日本神経学会中国・四国地方会, Jun. 2021.
31.	Hiroki Yamazaki : 症状誘発条件下で行う神経エコー検査が責任部位と原因の同定に有用であった真の神経原性胸郭出口症候群の3例, 第40回日本脳神経超音波学会総会, Jun. 2021.
32.	松原知康, Yuishin Izumi, Shotaro Haji, Hiroki Yamazaki, Yusuke Osaki, Ryosuke Miyamoto, Koji Fujita, 齋藤祐子 and 村山繁雄 : Lewy小体型認知症と筋萎縮性側索硬化症を合併した1例, 第62回日本神経病理学会総会学術研究会, May 2021.
33.	Ai Miyashiro, Toshitaka Kawarai and Hiroki Yamazaki : AIFM1遺伝子変異により感音性難聴と感覚性末梢神経障害を認めた一例, 第107回日本神経学会中国・四国地方会, Dec. 2019.
34.	Naoko Matsui, Kazutaka Kuroda, Ryosuke Oki, Nagahisa Murakami, Hiroki Yamazaki, 梶龍兒 and Yuishin Izumi : Heat pack testで症状の改善を認めた全身型重症筋無力症の一例, 第31回日本神経免疫学会学術集会, Sep. 2019.
35.	高松直子, Hiroki Yamazaki, Hiroyuki Nodera and Yuishin Izumi : 脳神経超音波マニュアル(神経筋エコー), 第38回日本脳神経超音波学会総会, Jun. 2019.
36.	Hiroki Yamazaki, 高松直子, 福島功士, 三宅晶子, 垂髪祐樹, Takeshi Yoshida, Yusuke Osaki, 森敦子, Hiroyuki Nodera and Yuishin Izumi : 手指の痺れを主訴とした患者に対しどこまで対応するか, 第38回日本脳神経超音波学会総会, Jun. 2019.

Et cetera, Workshop:

1.	MUTO Kohei, 砂田陽二郎, Yuki Yamamoto, Hiroki Yamazaki, Yoshiteru Tada, 高橋幸利, Koji Fujita and Yuishin Izumi : 予後不良であったsubacute encephalopathy with seizures in alcoholics syndrome (SESA症候群)の1例, 第11回全国てんかんセンター協議会総会徳島大会2024, Mar. 2024.
2.	Naoko Matsui, Hiroki Yamazaki, 高松直子, Ryosuke Miyamoto, Hiroyuki Morino, 西野一三, Ryuji Kaji and Yuishin Izumi : 当院で経験したIBM兄弟例, 稀少難治性筋疾患に関する調査研究班「IBM分科会」(令和5年度), Feb. 2024.
3.	Ryuji Kaji, Naoko Matsui, Hiroki Yamazaki, 高松直子, 山下賢, 西野一三 and Yuishin Izumi : 当院におけるIBM患者のまとめ, 稀少難治性筋疾患に関する調査研究班「IBM分科会」(令和4年度), Feb. 2023.
4.	Ryuji Kaji, Hiroki Yamazaki, Koji Fukushima, Naoko Matsui, 高松直子, 西野一三 and Yuishin Izumi : 当院で診断したIBM患者における筋超音波所見の長期的追跡, 稀少難治性筋疾患に関する調査研究班「IBM分科会」(令和3年度), Feb. 2022.

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Designated Assistant Professor : Yamazaki, Hiroki

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