12 results on '"Mayumi Matsufuji"'
Search Results
2. A de novo <scp> U2AF2 </scp> heterozygous variant associated with hypomyelinating leukodystrophy
- Author
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Yukiko Kuroda, Mayumi Matsufuji, Yumi Enomoto, Hitoshi Osaka, Jun‐Ichi Takanashi, Toshiyuki Yamamoto, Yurika Numata‐Uematsu, Kenshiro Tabata, Kenji Kurosawa, and Ken Inoue
- Subjects
Genetics ,Genetics (clinical) - Published
- 2023
3. Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome
- Author
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Shin Nabatame, Junpei Tanigawa, Koji Tominaga, Kuriko Kagitani-Shimono, Keiko Yanagihara, Katsumi Imai, Toru Ando, Yu Tsuyusaki, Nami Araya, Mayumi Matsufuji, Jun Natsume, Kotaro Yuge, Drago Bratkovic, Hiroshi Arai, Takeshi Okinaga, Takeshi Matsushige, Yoshiteru Azuma, Naoko Ishihara, Satoko Miyatake, Mitsuhiro Kato, Naomichi Matsumoto, Nobuhiko Okamoto, Satoru Takahashi, Satoshi Hattori, and Keiichi Ozono
- Subjects
Neurology ,Neurology (clinical) - Published
- 2023
4. Sodium phenylbutyrate improved the clinical state in an adult patient with arginase 1 deficiency
- Author
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Eiko Takeshita, Sachio Takashima, Masayuki Nakashima, Hiromi Ishibashi, Yoriko Watanabe, Toshio Hanai, Mayumi Matsufuji, and Kaori Fukui
- Subjects
biology ,Arginine ,business.industry ,Serum albumin ,Hyperargininemia ,Hyperammonemia ,Sodium phenylbutyrate ,General Medicine ,Pharmacology ,medicine.disease ,Arginase ,03 medical and health sciences ,0302 clinical medicine ,Developmental Neuroscience ,Urea cycle ,Pediatrics, Perinatology and Child Health ,biology.protein ,medicine ,Neurology (clinical) ,business ,ARG1 ,030217 neurology & neurosurgery ,medicine.drug - Abstract
An adult female patient was diagnosed with arginase 1 deficiency (ARG1-D) at 4 years of age, and had been managed with protein restriction combined with sodium benzoate therapy. Though the treatment was successful in ameliorating hyperammonemia, hyperargininemia persisted. After being under control with a strict restriction of dietary protein, severe fall of serum albumin levels appeared and her condition became strikingly worsened. However, after sodium phenylbutyrate (NaPB) therapy was initiated, the clinical condition and metabolic stability was greatly improved. Current management of ARG1-D is aimed at lowering plasma arginine levels. The nitrogen scavengers, such as NaPB can excrete the waste nitrogen not through the urea cycle but via the alternative pathway. The removal of nitrogen via alternative pathway lowers the flux of arginine in the urea cycle. Thereby, the clinical complications due to insufficient amount of protein intake can be prevented. Thus, NaPB therapy can be expected as a useful therapeutic option, particularly in patients with ARG1-D.
- Published
- 2020
5. Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies
- Author
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Ryutaro Kira, Kozue Kobayashi, Kyoko Hoshino, Tadashi Shiohama, Sachiko Miyamoto, Akio Ebata, Akira Hojo, Masayuki Furuyama, Hirotomo Saitsu, Nobuko Moriyama, Mitsuko Nakashima, Pin Fee Chong, Manabu Suzuki, Tatsuya Yamamoto, Takuya Hiraide, Hiroko Matsushita, Tomohide Goto, Mitsuhiro Kato, Hiroko Ikeda, and Mayumi Matsufuji
- Subjects
0301 basic medicine ,Adult ,Male ,Adolescent ,DNA Copy Number Variations ,colpocephaly ,Motor Disorders ,030105 genetics & heredity ,Biology ,Corpus callosum ,Nervous System Malformations ,Genetic analysis ,whole exome sequencing ,Congenital Abnormalities ,Corpus Callosum ,03 medical and health sciences ,Lateral ventricles ,Colpocephaly ,Young Adult ,Japan ,Intellectual Disability ,Lateral Ventricles ,Intellectual disability ,Exome Sequencing ,Genetics ,medicine ,Humans ,Copy-number variation ,Child ,Genetics (clinical) ,Exome sequencing ,Brain Diseases ,Corpus callosum anomaly ,Brain ,medicine.disease ,030104 developmental biology ,somatic mosaicism ,Phenotype ,Child, Preschool ,Mutation ,Etiology ,Female ,Agenesis of Corpus Callosum ,copy number variants - Abstract
Corpus callosum anomalies (CCA) is a common congenital brain anomaly with various etiologies. Although one of the most important etiologies is genetic factors, the genetic background of CCA is heterogenous and diverse types of variants are likely to be causative. In this study, we analyzed 16 Japanese patients with corpus callosum anomalies to delineate clinical features and the genetic background of CCAs. We observed the common phenotypes accompanied by CCAs: intellectual disability (100%), motor developmental delay (93.8%), seizures (60%), and facial dysmorphisms (50%). Brain magnetic resonance imaging showed colpocephaly (enlarged posterior horn of the lateral ventricles, 84.6%) and enlarged supracerebellar cistern (41.7%). Whole exome sequencing revealed genetic alterations in 9 of the 16 patients (56.3%), including 8 de novo alterations (2 copy number variants and variants in ARID1B, CDK8, HIVEP2, and TCF4) and a recessive variant of TBCK. De novo ARID1B variants were identified in three unrelated individuals, suggesting that ARID1B variants are major genetic causes of CCAs. A de novo TCF4 variant and somatic mosaic deletion at 18q21.31-qter encompassing TCF4 suggest an association of TCF4 abnormalities with CCAs. This study, which analyzes CCA patients usung whole exome sequencing, demonstrates that comprehensive genetic analysis would be useful for investigating various causal variants of CCAs.
- Published
- 2021
6. A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl
- Author
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Toyojiro Matsuishi, Kotaro Yuge, Nozomi Sano, Yukako Yae, Chihiro Yonee, Tomoko Saikusa, Naomichi Matsumoto, Yushiro Yamashita, Takeshi Mizuguchi, Mayumi Matsufuji, and Kazuhiro Iwama
- Subjects
0301 basic medicine ,congenital, hereditary, and neonatal diseases and abnormalities ,Pediatrics ,medicine.medical_specialty ,Rett syndrome ,medicine.disease_cause ,MECP2 ,Frameshift mutation ,Diagnosis, Differential ,03 medical and health sciences ,Epilepsy ,Munc18 Proteins ,0302 clinical medicine ,Neurodevelopmental disorder ,Japan ,Developmental Neuroscience ,Rett Syndrome ,Humans ,Medicine ,STXBP1 ,Frameshift Mutation ,Mutation ,business.industry ,West Syndrome ,General Medicine ,medicine.disease ,Phenotype ,030104 developmental biology ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Female ,Neurology (clinical) ,business ,030217 neurology & neurosurgery - Abstract
Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by mutations in Methyl-CpG-binding protein 2 (MECP2); however, mutations in various other genes may lead to RTT-like phenotypes. Here, we report the first case of a Japanese girl with RTT caused by a novel syntaxin-binding protein 1 (STXBP1) frameshift mutation (c.60delG, p.Lys21Argfs*16). She showed epilepsy at one year of age, regression of acquired psychomotor abilities thereafter, and exhibited stereotypic hand and limb movements at 3 years of age. Her epilepsy onset was earlier than is typical for RTT patients. However, she fully met the 2010 diagnostic criteria of typical RTT. STXBP1 mutations cause early infantile epileptic encephalopathy (EIEE), various intractable epilepsies, and neurodevelopmental disorders. However, the case described here presented a unique clinical presentation of typical RTT without EIEE and a novel STXBP1 mutation.
- Published
- 2018
7. Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan
- Author
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Ryuichi Mashima, Torayuki Okuyama, Keiko Shimojima, Toshiyuki Yamamoto, Mayumi Matsufuji, and Eri Sakai
- Subjects
Male ,0301 basic medicine ,Adolescent ,Aspartylglucosaminuria ,Population ,Biology ,Bioinformatics ,03 medical and health sciences ,0302 clinical medicine ,Japan ,Thalamus ,Developmental Neuroscience ,medicine ,Humans ,Exome ,education ,Gene ,Exome sequencing ,education.field_of_study ,Aspartylglucosaminidase ,Aspartylglucosylaminase ,General Medicine ,medicine.disease ,Magnetic Resonance Imaging ,030104 developmental biology ,Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization ,Mutation ,Pediatrics, Perinatology and Child Health ,Mutation (genetic algorithm) ,Neurology (clinical) ,Developmental regression ,030217 neurology & neurosurgery - Abstract
Background Aspartylglucosaminuria (AGU) is an autosomal recessive lysosomal storage disorder caused by a deficiency of the lysosomal enzyme, aspartylglucosaminidase (AGA). This disorder is rare in the general population except in Finland. Since the most characteristic feature of this disorder is a progressive developmental regression, patients often show no specific symptoms in the initial stages, and thus early diagnosis is often challenging. Case report We encountered a 16-year-old boy who began to show difficulties in his speech at the age of 6years. Due to a mild regression in his development, he gradually lost common daily abilities. His diagnosis was first obtained through exome sequencing that identified a novel homozygous mutation in the AGA gene. This result was reasonable because of parental consanguinity. Reduced enzymatic activity of AGA was then confirmed. His urine was retrospectively screened by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS) and a specific pattern of abnormal metabolites was identified. Conclusions Because both exome sequencing and MALDI-TOF-MS screening are adaptable and comprehensive, future combinatory use of these methods would be useful for diagnosis of rare inborn errors of metabolism such as AGU.
- Published
- 2017
8. Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis
- Author
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Kazunori Arita, Toshiyuki Yamamoto, Nayuta Higa, Keiko Shimojima, Nozomi Sano, Tatsuki Oyoshi, Hisashi Tsuru, Hiroshi Tokimura, Mayumi Matsufuji, and Yumiko Ondo
- Subjects
Heart Defects, Congenital ,0301 basic medicine ,Pathology ,medicine.medical_specialty ,Prominent forehead ,Developmental Disabilities ,Karyotype ,MAP Kinase Kinase 2 ,MAP2K2 ,030105 genetics & heredity ,Biology ,Craniosynostosis ,Craniosynostoses ,03 medical and health sciences ,Ectodermal Dysplasia ,Chromosome Duplication ,Female patient ,Genetics ,medicine ,Humans ,Abnormalities, Multiple ,In patient ,Genetics (clinical) ,Facies ,Infant ,General Medicine ,Synostosis ,medicine.disease ,Failure to Thrive ,Phenotype ,Palpebral fissure ,Mutation ,Female ,CFC SYNDROME ,Chromosomes, Human, Pair 19 ,Chromosomes, Human, Pair 16 - Abstract
A female patient presented with developmental delay, distinctive facial features, and congenital anomalies, including a heart defect and premature lambdoid synostosis. The patient showed a paternally inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving the mitogen-activated protein kinase kinase 2 gene (MAP2K2), in which mutations cause the cardio-facio-cutaneous (CFC) syndrome. Reports of patients with overlapping 19p13.3 microdeletions of this region describe similar clinical manifestations including distinctive facial features: prominent forehead, horizontal/down-slanting palpebral fissures, long midface, pointed chin/angular jaw, sparse eyebrows, and underdeveloped cheekbones. Some of these findings overlapped to that of the patients with 16p13.11 microduplications and CFC syndrome. Although craniosynostosis was occasionally observed in patients with dominant-negative mutations in RAS/MAP kinase signaling genes (RASopathies) related to CFC syndrome, it was also reported in two patients with 16p13.11 microduplications. Genetic contributions of both chromosomal aberrations were discussed.
- Published
- 2016
9. Evaluation of Cognitive Function When Hearing One's Own Name in Patients With Brain Injuries in Early Developmental Stages
- Author
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Kaori Tamura, Keiji Iramina, Sachio Takashima, Mayumi Matsufuji, Tsuyoshi Okamoto, and Takaaki Mizuba
- Subjects
Adult ,Male ,medicine.medical_specialty ,Adolescent ,Physiology ,medicine.medical_treatment ,Leukomalacia, Periventricular ,Alpha (ethology) ,Audiology ,Electroencephalography ,050105 experimental psychology ,Infant, Newborn, Diseases ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,Physiology (medical) ,Intellectual disability ,medicine ,Humans ,0501 psychology and cognitive sciences ,Beta Rhythm ,Cognitive Dysfunction ,Young adult ,Cerebral Hemorrhage ,Rehabilitation ,Periventricular leukomalacia ,medicine.diagnostic_test ,business.industry ,05 social sciences ,Infant, Newborn ,Cognition ,medicine.disease ,Alpha Rhythm ,Neurology ,Brain Injuries ,Female ,Neurology (clinical) ,business ,030217 neurology & neurosurgery - Abstract
PURPOSE The level of residual cognitive function in patients with early brain injury is a key factor limiting rehabilitation and the quality of life. Although understanding residual function is necessary for appropriate rehabilitation, the extent of its effects on cognitive improvement remains unknown. This study evaluated cognitive function in patients with severe motor and intellectual disabilities after early brain injuries due to cerebral hemorrhage or periventricular leukomalacia. We focused on neural responses to hearing the subject's own name (SON). According to previous studies, differences in response to SON are associated with several types of cognitive dysfunction. METHODS We examined healthy subjects (aged 21.4 ± 1.10 years; control) and patients with a previous brain injury (aged 13-27 years at the time of our analysis) resulting in periventricular leukomalacia or a cerebral hemorrhage during the perinatal period or childhood. We recorded EEG responses to the SON and to other Japanese words, obtaining EEG-evoked potentials with wavelet transformations. RESULTS Compared with healthy controls, beta power (not alpha power) revealed differences in response to SON by patients with brain injury, especially those with cerebral hemorrhage. CONCLUSIONS We suggest that alpha and beta power differences reflect different cognitive functions and that the SON response reveals more than one process. Beta powers may reflect the intellectual disability of cognitive function in response to self-relevant stimuli, especially in patients with cerebral hemorrhage. Meanwhile, alpha powers did not differ from those of the healthy controls, suggesting that the patients perhaps paid attention to their own names.
- Published
- 2016
10. Neuroimaging and neuropathological characteristics of cerebellar injury in extremely low birth weight infants
- Author
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Mayumi Matsufuji, Hisashi Tsuru, Nozomi Sano, and Sachio Takashima
- Subjects
Male ,Pathology ,medicine.medical_specialty ,Cerebellum ,Gestational Age ,Neuropathology ,Fourth ventricle ,Lesion ,03 medical and health sciences ,0302 clinical medicine ,Atrophy ,Developmental Neuroscience ,Cerebellar Diseases ,030225 pediatrics ,medicine ,Image Processing, Computer-Assisted ,Humans ,Retrospective Studies ,Infant, Newborn ,Infant ,General Medicine ,medicine.disease ,Magnetic Resonance Imaging ,Hypoplasia ,medicine.anatomical_structure ,nervous system ,Infant, Extremely Low Birth Weight ,Hemosiderin ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Cerebellar atrophy ,Female ,Neurology (clinical) ,medicine.symptom ,Psychology ,030217 neurology & neurosurgery - Abstract
Objective To determine the morphological characteristics and pathogenic factors of cerebellar injury in extremely low birth weight infants (ELBWI). Subjects and methods Neuroimaging examination was performed on 17 eligible surviving ELBWI. Their MR images were assessed and classified its pattern of cerebellar injuries. Brain pathology was examined on 15 patients, who isolated this neuroimaging subjects. The trend of brain pathologies was revealed. Results Four types of morphological pattern were recognized: (i) the absence of major portions in the cerebellum (6/17 cases); (ii) focal cerebellar tissue loss (2/17); (iii) unilateral cerebellar atrophy/hypoplasia (3/17); (iv) small cerebellum with entrapped fourth ventricle (6/17). In cerebellar pathology, the most common findings were focal or widespread cerebellar subarachnoid hemorrhage (12/15) and olivocerebellar degeneration (12/15). In addition, one-third of the cases indicated remote cerebellar parenchymal hemorrhage. Conclusion In MRI-defined lesions, the absence of major portions or focal tissue loss was associated with cerebellar parenchymal hemorrhage and/or hemorrhagic infarction, that is destructive lesion. On the other hand, small cerebellum or unilateral atrophy/hypoplasia, that is impaired development, may be related to the cerebellar neuron loss due to hemosiderin deposits in the surface of the cerebellum. The cerebellar injury in ELBWI is probably caused by not only environmental factors such as hemorrhage, hypoxia-ischemia, or other deleterious effect, but also immaturity of the rapidly growing cerebellum in particular gestational age.
- Published
- 2016
11. Evaluation of Cognitive Function When Hearing One's Own Name in Patients With Brain Injuries in Early Developmental Stages.
- Author
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Kaori Tamura, Takaaki Mizuba, Tsuyoshi Okamoto, Mayumi Matsufuji, Sachio Takashima, Keiji Iramina, Tamura, Kaori, Mizuba, Takaaki, Okamoto, Tsuyoshi, Matsufuji, Mayumi, Takashima, Sachio, and Iramina, Keiji
- Published
- 2017
- Full Text
- View/download PDF
12. Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan.
- Author
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Toshiyuki Yamamoto, Keiko Shimojima, Mayumi Matsufuji, Ryuichi Mashima, Eri Sakai, and Torayuki Okuyama
- Subjects
- *
ASPARTYLGLUCOSAMINURIA , *GENETIC mutation , *EXOMES , *INBORN errors of metabolism - Abstract
Background Aspartylglucosaminuria (AGU) is an autosomal recessive lysosomal storage disorder caused by a deficiency of the lysosomal enzyme, aspartylglucosaminidase (AGA). This disorder is rare in the general population except in Finland. Since the most characteristic feature of this disorder is a progressive developmental regression, patients often show no specific symptoms in the initial stages, and thus early diagnosis is often challenging. Case report We encountered a 16-year-old boy who began to show difficulties in his speech at the age of 6 years. Due to a mild regression in his development, he gradually lost common daily abilities. His diagnosis was first obtained through exome sequencing that identified a novel homozygous mutation in the AGA gene. This result was reasonable because of parental consanguinity. Reduced enzymatic activity of AGA was then confirmed. His urine was retrospectively screened by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS) and a specific pattern of abnormal metabolites was identified. Conclusions Because both exome sequencing and MALDI-TOF-MS screening are adaptable and comprehensive, future combinatory use of these methods would be useful for diagnosis of rare inborn errors of metabolism such as AGU. [ABSTRACT FROM AUTHOR]
- Published
- 2017
- Full Text
- View/download PDF
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