7 results on '"Numata-Uematsu Y"'
Search Results
2. A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor.
- Author
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Uneoka S, Kobayashi T, Numata-Uematsu Y, Oikawa Y, Katata Y, Okubo Y, Abe Y, Kikuchi A, Takayama J, Tamiya G, Kure S, Saito K, and Uematsu M
- Subjects
- Child, Preschool, Humans, Mutation genetics, Tongue metabolism, Muscular Atrophy, Spinal, Tremor
- Abstract
Myosin-binding protein C1 (MYBPC1) encodes myosin-binding protein C, slow type (sMyBP-C), an accessory protein that regulates actomyosin cross-linking, stabilizes thick filaments, and modulates contractility in muscle sarcomeres and has recently been linked to myopathy with tremor. The clinical features of MYBPC1 mutations manifesting in early childhood bear some similarities to those of spinal muscular atrophy (SMA), such as hypotonia, involuntary movement of the tongue and limbs, and delayed motor development. The development of novel therapies for SMA has necessitated the importance of differentiating SMA from other diseases in the early infancy period. We report the characteristic tongue movements of MYBPC1 mutations, along with other clinical findings, such as positive deep tendon reflexes and normal peripheral nerve conduction velocity testing, which could help in considering other diseases as differential diagnoses., (Copyright © 2023 Elsevier Inc. All rights reserved.) more...
- Published
- 2023
- Full Text
- View/download PDF
Catalog
3. A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy.
- Author
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Kuroda Y, Matsufuji M, Enomoto Y, Osaka H, Takanashi JI, Yamamoto T, Numata-Uematsu Y, Tabata K, Kurosawa K, and Inoue K
- Subjects
- Humans, Splicing Factor U2AF, Leukoencephalopathies diagnosis, Leukoencephalopathies genetics
- Published
- 2023
- Full Text
- View/download PDF
4. Comprehensive study of metabolic changes induced by a ketogenic diet therapy using GC/MS- and LC/MS-based metabolomics.
- Author
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Akiyama M, Akiyama T, Saigusa D, Hishinuma E, Matsukawa N, Shibata T, Tsuchiya H, Mori A, Fujii Y, Mogami Y, Tokorodani C, Kuwahara K, Numata-Uematsu Y, Inoue K, and Kobayashi K
- Subjects
- Humans, Tandem Mass Spectrometry, Gas Chromatography-Mass Spectrometry, Chromatography, Liquid, Ketone Bodies, Diet, Ketogenic methods, Drug Resistant Epilepsy
- Abstract
Objective: The ketogenic diet (KD), a high-fat and low-carbohydrate diet, is effective for a subset of patients with drug-resistant epilepsy, although the mechanisms of the KD have not been fully elucidated. The aims of this observational study were to investigate comprehensive short-term metabolic changes induced by the KD and to explore candidate metabolites or pathways for potential new therapeutic targets., Methods: Subjects included patients with intractable epilepsy who had undergone the KD therapy (the medium-chain triglyceride [MCT] KD or the modified Atkins diet using MCT oil). Plasma and urine samples were obtained before and at 2-4 weeks after initiation of the KD. Targeted metabolome analyses of these samples were performed using gas chromatography-tandem mass spectrometry (GC/MS/MS) and liquid chromatography-tandem mass spectrometry (LC/MS/MS)., Results: Samples from 10 and 11 patients were analysed using GC/MS/MS and LC/MS/MS, respectively. The KD increased ketone bodies, various fatty acids, lipids, and their conjugates. In addition, levels of metabolites located upstream of acetyl-CoA and propionyl-CoA, including catabolites of branched-chain amino acids and structural analogues of γ-aminobutyric acid and lactic acid, were elevated., Conclusions: The metabolites that were significantly changed after the initiation of the KD and related metabolites may be candidates for further studies for neuronal actions to develop new anti-seizure medications., Competing Interests: Declaration of Competing Interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Mari Akiyama reports financial support was provided by Public Interest Incorporated Foundation Japan Epilepsy Research Foundation. Daisuke Saigusa reports financial support was provided by Government of Japan Ministry of Education, Culture, Sports, Science, and Technology. Daisuke Saigusa reports financial support was provided by Japan Agency for Medical Research and Development. Daisuke Saigusa reports financial support was provided by Japan Society for the Promotion of Science., (Copyright © 2023 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.) more...
- Published
- 2023
- Full Text
- View/download PDF
5. Successful treatment with dimethyl fumarate in a child with relapsing-remitting multiple sclerosis.
- Author
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Saijo N, Abe Y, Oikawa Y, Okubo Y, Endo W, Numata-Uematsu Y, Takahashi T, and Uematsu M
- Subjects
- Adult, Child, Child, Preschool, Dimethyl Fumarate therapeutic use, Humans, Immunosuppressive Agents therapeutic use, Magnetic Resonance Imaging, Male, Multiple Sclerosis chemically induced, Multiple Sclerosis drug therapy, Multiple Sclerosis, Relapsing-Remitting chemically induced, Multiple Sclerosis, Relapsing-Remitting diagnostic imaging, Multiple Sclerosis, Relapsing-Remitting drug therapy
- Abstract
Introduction: Early disease control with disease-modifying drugs is important for improving the prognosis of multiple sclerosis (MS) in children. Dimethyl fumarate (DMF) is an oral disease-modifying drug for MS in adults with relatively stable disease; however, its use in young children has not been heavily documented in the current literature. We report the case of a pediatric patient with relapsing-remitting MS who was treated with DMF., Case Report: A 3-year-old boy with a history of common cold symptoms developed unsteadiness and somnolence. Magnetic resonance imaging revealed multiple white matter lesions. Symptoms were recurrent, and DMF was prescribed at 6 years of age due to a relapse episode with oculomotor disability and facial paralysis. However, disease progression continued, and new lesions were noted at age 7; thus, the dose of DMF was increased to 240 mg/day. No relapse has been observed for over three years; sequelae or severe side effects were absent., Conclusions: DMF may be a useful oral disease-modifying drug for preventing recurrence in young children with MS., Competing Interests: Conflict of interest The authors declare no competing interests., (Copyright © 2022 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.) more...
- Published
- 2022
- Full Text
- View/download PDF
6. The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant.
- Author
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Katata Y, Uneoka S, Saijyo N, Aihara Y, Miyazoe T, Koyamaishi S, Oikawa Y, Ito Y, Abe Y, Numata-Uematsu Y, Takayama J, Kikuchi A, Tamiya G, Uematsu M, and Kure S
- Subjects
- Exons, Humans, Mutation, Siblings, Survivors, Exome Sequencing, Myasthenic Syndromes, Congenital complications, Myasthenic Syndromes, Congenital diagnosis, Myasthenic Syndromes, Congenital genetics
- Abstract
Congenital myasthenic syndromes (CMS) is a group of diseases that causes abnormalities at the neuromuscular junction owing to genetic anomalies. The pathogenic variant in ALG14 results in a severe pathological form of CMS causing end-plate acetylcholine receptor deficiency. Here, we report the cases of two siblings with CMS associated with a novel variant in ALG14. Immediately after birth, they showed hypotonia and multiple joint contractures with low Apgar scores. Ptosis, low-set ears, and high-arched palate were noted. Deep tendon reflexes were symmetrical. They showed worsening swallowing and respiratory problems; hence, nasal feeding and tracheotomy were performed. Cranial magnetic resonance imaging scans revealed delayed myelination and cerebral atrophy. Exome sequencing indicated that the siblings had novel compound heterozygous missense variants, c.590T>G (p.Val197Gly) and c.433G>A (p.Gly145Arg), in exon 4 of ALG14. Repetitive nerve stimulation test showed an abnormal decrease in compound muscle action potential. After treatment with pyridostigmine, the time off the respirator increased. Their epileptic seizures were well controlled by anti-epileptic drugs. Their clinical course is stable even now at the ages of 5 and 2 years, making them the longest reported survivors of a severe form of CMS with the ALG14 variant thus far., (© 2021 Wiley Periodicals LLC.) more...
- Published
- 2022
- Full Text
- View/download PDF
7. Two types of early epileptic encephalopathy in a Pitt-Hopkins syndrome patient with a novel TCF4 mutation.
- Author
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Kirikae H, Uematsu M, Numata-Uematsu Y, Saijo N, Katata Y, Oikawa Y, Kikuchi A, Yanagi K, Kaname T, Haginoya K, and Kure S
- Subjects
- Anticonvulsants pharmacology, Humans, Infant, Male, Mutation, Missense, Topiramate pharmacology, Facies, Hyperventilation diagnosis, Hyperventilation drug therapy, Hyperventilation genetics, Hyperventilation physiopathology, Intellectual Disability diagnosis, Intellectual Disability drug therapy, Intellectual Disability genetics, Intellectual Disability physiopathology, Spasms, Infantile diagnosis, Spasms, Infantile drug therapy, Spasms, Infantile genetics, Spasms, Infantile physiopathology, Transcription Factor 4 genetics
- Abstract
Introduction: Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder caused by mutations in TCF4. Seizures have been found to vary among patients with PTHS. We report the case of a PTHS patient with a novel missense mutation in the gene TCF4, presenting with two types of early epileptic encephalopathy., Case Report: The patient was a Japanese boy. His first seizure was reported at 17 days of age, with twitching of the left eyelid and tonic-clonic seizures on either side of his body. An ictal electroencephalogram (EEG) showed epileptic discharges arising independently from both hemispheres, occasionally resembling migrating partial seizures of infancy (MPSI) that migrated from one side to the other. Brain magnetic resonance imaging revealed agenesis of the corpus callosum. His facial characteristics included a distinctive upper lip and thickened helices. His seizures were refractory, and psychomotor development was severely delayed. At the age of 10 months, he developed West syndrome with spasms and hypsarrhythmia. After being prescribed topiramate (TPM), his seizures and EEG abnormalities dramatically improved. Also, psychomotor development progressed. Whole-exome sequencing revealed a novel de novo missense mutation in exon 18 (NM_001083962.2:c.1718A > T, p.(Asn573Ile)), corresponding to the basic region of the basic helix-loop-helix domain, which may be a causative gene for epileptic encephalopathy., Conclusions: To our knowledge, this is the first report of a patient with PTHS treated with TPM, who presented with both MPSI as well as West syndrome. This may help provide new insights regarding the phenotypes caused by mutations in TCF4., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2021 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.) more...
- Published
- 2022
- Full Text
- View/download PDF
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