start-ver=1.4
cd-journal=joma
no-vol=77
cd-vols=
no-issue=5
article-no=
start-page=561
end-page=566
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2023
dt-pub=202310
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Effective Epilepsy Surgery for Post-Traumatic West Syndrome Following Abusive Head Trauma
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=West syndrome, an infantile developmental and epileptic encephalopathy with a deleterious impact on long-term development, requires early treatment to minimize developmental abnormality; in such cases, epilepsy surgery should be considered a powerful therapeutic option. We describe a 10-month-old female admitted with West syndrome associated with a hemispheric lesion following abusive head trauma. Her seizures were suppressed by hemispherotomy at 12 months of age, leading to developmental improvement. Surgical treatment of West syndrome following traumatic brain injury has not been reported previously but is worth considering as a treatment option, depending on patient age and brain plasticity.
en-copyright=
kn-copyright=
en-aut-name=TsuchiyaHiroki
en-aut-sei=Tsuchiya
en-aut-mei=Hiroki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=
en-aut-name=ShibataTakashi
en-aut-sei=Shibata
en-aut-mei=Takashi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=
en-aut-name=SasakiTatsuya
en-aut-sei=Sasaki
en-aut-mei=Tatsuya
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=
en-aut-name=InoueTakushi
en-aut-sei=Inoue
en-aut-mei=Takushi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=
en-aut-name=DateIsao
en-aut-sei=Date
en-aut-mei=Isao
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=
en-aut-name=AkiyamaTomoyuki
en-aut-sei=Akiyama
en-aut-mei=Tomoyuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=
en-aut-name=KobayashiKatsuhiro
en-aut-sei=Kobayashi
en-aut-mei=Katsuhiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=
affil-num=1
en-affil=Department of Pediatrics (Child Neurology), Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences and Okayama University Hospital
kn-affil=
affil-num=2
en-affil=Department of Pediatrics (Child Neurology), Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences and Okayama University Hospital
kn-affil=
affil-num=3
en-affil=Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences and Okayama University Hospital
kn-affil=
affil-num=4
en-affil=Department of Pediatrics, National Hospital Organization Okayama Medical Center
kn-affil=
affil-num=5
en-affil=Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences and Okayama University Hospital
kn-affil=
affil-num=6
en-affil=Department of Pediatrics (Child Neurology), Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences and Okayama University Hospital
kn-affil=
affil-num=7
en-affil=Department of Pediatrics (Child Neurology), Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences and Okayama University Hospital
kn-affil=
en-keyword=abusive head trauma
kn-keyword=abusive head trauma
en-keyword=developmental and epileptic encephalopathy
kn-keyword=developmental and epileptic encephalopathy
en-keyword=epilepsy surgery
kn-keyword=epilepsy surgery
en-keyword=epileptic spasms
kn-keyword=epileptic spasms
en-keyword=hemispherotomy
kn-keyword=hemispherotomy
END
start-ver=1.4
cd-journal=joma
no-vol=107
cd-vols=
no-issue=
article-no=
start-page=52
end-page=59
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2023
dt-pub=202304
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Comprehensive study of metabolic changes induced by a ketogenic diet therapy using GC/MS- and LC/MS-based metabolomics
en-subtitle=
kn-subtitle=
en-abstract=
kn-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.
en-copyright=
kn-copyright=
en-aut-name=AkiyamaMari
en-aut-sei=Akiyama
en-aut-mei=Mari
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=
en-aut-name=AkiyamaTomoyuki
en-aut-sei=Akiyama
en-aut-mei=Tomoyuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=
en-aut-name=SaigusaDaisuke
en-aut-sei=Saigusa
en-aut-mei=Daisuke
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=
en-aut-name=HishinumaEiji
en-aut-sei=Hishinuma
en-aut-mei=Eiji
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=
en-aut-name=MatsukawaNaomi
en-aut-sei=Matsukawa
en-aut-mei=Naomi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=
en-aut-name=ShibataTakashi
en-aut-sei=Shibata
en-aut-mei=Takashi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=
en-aut-name=TsuchiyaHiroki
en-aut-sei=Tsuchiya
en-aut-mei=Hiroki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=
en-aut-name=MoriAtsushi
en-aut-sei=Mori
en-aut-mei=Atsushi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=
en-aut-name=FujiiYuji
en-aut-sei=Fujii
en-aut-mei=Yuji
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=9
ORCID=
en-aut-name=MogamiYukiko
en-aut-sei=Mogami
en-aut-mei=Yukiko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=10
ORCID=
en-aut-name=TokorodaniChiho
en-aut-sei=Tokorodani
en-aut-mei=Chiho
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=11
ORCID=
en-aut-name=KuwaharaKozue
en-aut-sei=Kuwahara
en-aut-mei=Kozue
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=12
ORCID=
en-aut-name=Numata-UematsuYurika
en-aut-sei=Numata-Uematsu
en-aut-mei=Yurika
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=13
ORCID=
en-aut-name=InoueKenji
en-aut-sei=Inoue
en-aut-mei=Kenji
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=14
ORCID=
en-aut-name=KobayashiKatsuhiro
en-aut-sei=Kobayashi
en-aut-mei=Katsuhiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=15
ORCID=
affil-num=1
en-affil=Department of Child Neurology, Okayama University Hospital
kn-affil=
affil-num=2
en-affil=Department of Paediatrics (Child Neurology), Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=
affil-num=3
en-affil=Tohoku Medical Megabank Organization, Tohoku University
kn-affil=
affil-num=4
en-affil=Tohoku Medical Megabank Organization, Tohoku University
kn-affil=
affil-num=5
en-affil=Tohoku Medical Megabank Organization, Tohoku University
kn-affil=
affil-num=6
en-affil=Department of Child Neurology, Okayama University Hospital
kn-affil=
affil-num=7
en-affil=Department of Child Neurology, Okayama University Hospital
kn-affil=
affil-num=8
en-affil=Department of Neurology, Shiga Medical Centre for Children
kn-affil=
affil-num=9
en-affil=Department of Paediatrics, Hiroshima City Funairi Citizens Hospital
kn-affil=
affil-num=10
en-affil=Department of Paediatric Neurology, Osaka Women's and Children's Hospital
kn-affil=
affil-num=11
en-affil=Department of Paediatrics, Kochi Health Sciences Centre
kn-affil=
affil-num=12
en-affil=Department of Paediatrics, Ehime Prefectural Central Hospital,
kn-affil=
affil-num=13
en-affil=Department of Paediatrics, Tohoku University School of Medicine
kn-affil=
affil-num=14
en-affil=Department of Neurology, Shiga Medical Centre for Children
kn-affil=
affil-num=15
en-affil=Department of Paediatrics (Child Neurology), Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=
en-keyword=Amino acids
kn-keyword=Amino acids
en-keyword=Biomarkers
kn-keyword=Biomarkers
en-keyword=Intractable epilepsy
kn-keyword=Intractable epilepsy
en-keyword=Ketone bodies
kn-keyword=Ketone bodies
en-keyword=Organic acids
kn-keyword=Organic acids
END
start-ver=1.4
cd-journal=joma
no-vol=15
cd-vols=
no-issue=
article-no=
start-page=696882
end-page=
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2021
dt-pub=20210615
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Exclusion of the Possibility of "False Ripples" From Ripple Band High-Frequency Oscillations Recorded From Scalp Electroencephalogram in Children With Epilepsy
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Aim Ripple-band epileptic high-frequency oscillations (HFOs) can be recorded by scalp electroencephalography (EEG), and tend to be associated with epileptic spikes. However, there is a concern that the filtration of steep waveforms such as spikes may cause spurious oscillations or "false ripples." We excluded such possibility from at least some ripples by EEG differentiation, which, in theory, enhances high-frequency signals and does not generate spurious oscillations or ringing. Methods The subjects were 50 pediatric patients, and ten consecutive spikes during sleep were selected for each patient. Five hundred spike data segments were initially reviewed by two experienced electroencephalographers using consensus to identify the presence or absence of ripples in the ordinary filtered EEG and an associated spectral blob in time-frequency analysis (Session A). These EEG data were subjected to numerical differentiation (the second derivative was denoted as EEG ''). The EEG '' trace of each spike data segment was shown to two other electroencephalographers who judged independently whether there were clear ripple oscillations or uncertain ripple oscillations or an absence of oscillations (Session B). Results In Session A, ripples were identified in 57 spike data segments (Group A-R), but not in the other 443 data segments (Group A-N). In Session B, both reviewers identified clear ripples (strict criterion) in 11 spike data segments, all of which were in Group A-R (p < 0.0001 by Fisher's exact test). When the extended criterion that included clear and/or uncertain ripples was used in Session B, both reviewers identified 25 spike data segments that fulfilled the criterion: 24 of these were in Group A-R (p < 0.0001). Discussion We have demonstrated that real ripples over scalp spikes exist in a certain proportion of patients. Ripples that were visualized consistently using both ordinary filters and the EEG '' method should be true, but failure to clarify ripples using the EEG '' method does not mean that true ripples are absent. Conclusion The numerical differentiation of EEG data provides convincing evidence that HFOs were detected in terms of the presence of such unusually fast oscillations over the scalp and the importance of this electrophysiological phenomenon.
en-copyright=
kn-copyright=
en-aut-name=KobayashiKatsuhiro
en-aut-sei=Kobayashi
en-aut-mei=Katsuhiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=
en-aut-name=ShibataTakashi
en-aut-sei=Shibata
en-aut-mei=Takashi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=
en-aut-name=TsuchiyaHiroki
en-aut-sei=Tsuchiya
en-aut-mei=Hiroki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=
en-aut-name=AkiyamaTomoyuki
en-aut-sei=Akiyama
en-aut-mei=Tomoyuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=
affil-num=1
en-affil=Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences and Okayama University Hospital
kn-affil=
affil-num=2
en-affil=Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences and Okayama University Hospital
kn-affil=
affil-num=3
en-affil=Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences and Okayama University Hospital
kn-affil=
affil-num=4
en-affil=Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences and Okayama University Hospital
kn-affil=
en-keyword=epilepsy
kn-keyword=epilepsy
en-keyword=child
kn-keyword=child
en-keyword=scalp EEG
kn-keyword=scalp EEG
en-keyword=false ripple
kn-keyword=false ripple
en-keyword=high-frequency oscillation (HFO)
kn-keyword=high-frequency oscillation (HFO)
en-keyword=fast oscillation (FO)
kn-keyword=fast oscillation (FO)
END
start-ver=1.4
cd-journal=joma
no-vol=25
cd-vols=
no-issue=
article-no=
start-page=100643
end-page=
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2020
dt-pub=202012
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dystrophy clinical trials
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Hypophosphatasia (HPP) is a rare disorder resulting from biallelic loss-of-function variants or monoallelic dominant negative variants in the ALPL gene. We herein describe the clinical outcome of a 32-year-old woman with childhood-onset HPP caused by compound heterozygous variants in ALPL. Her chief complaints were severe musculoskeletal pain, muscle weakness, and impaired daily activities necessitating assistance in housework and child-rearing in addition to a history of early tooth loss and mildly short stature. Asfotase alfa therapy produced a remarkable increase in muscle strength and daily activities and markedly reduced musculoskeletal pain. Drug efficacy was clearly demonstrated through multiple test batteries (muscle strength test using microFET®2, six-minute walking test, Stair Climb Test, rising-from-floor-time test, and number-of-steps test using Actigraph®) currently adopted as standardized evaluations in Duchenne muscular dystrophy clinical trials since no test batteries for HPP have been established to date. These tests may also be promising for the assessment of HPP.
en-copyright=
kn-copyright=
en-aut-name=NishizawaHitomi
en-aut-sei=Nishizawa
en-aut-mei=Hitomi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=
en-aut-name=SatoYoshihiko
en-aut-sei=Sato
en-aut-mei=Yoshihiko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=
en-aut-name=IshikawaMasumi
en-aut-sei=Ishikawa
en-aut-mei=Masumi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=
en-aut-name=ArakawaYuko
en-aut-sei=Arakawa
en-aut-mei=Yuko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=
en-aut-name=IijimaMari
en-aut-sei=Iijima
en-aut-mei=Mari
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=
en-aut-name=AkiyamaTomoyuki
en-aut-sei=Akiyama
en-aut-mei=Tomoyuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=
en-aut-name=TakanoKyoko
en-aut-sei=Takano
en-aut-mei=Kyoko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=
en-aut-name=WatanabeAtsushi
en-aut-sei=Watanabe
en-aut-mei=Atsushi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=
en-aut-name=KoshoTomoki
en-aut-sei=Kosho
en-aut-mei=Tomoki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=9
ORCID=
affil-num=1
en-affil=Faculty of Health Sciences, Department of Medicine, Shinshu University
kn-affil=
affil-num=2
en-affil=Department of Diabetes, Endocrinology and Metabolism, Division of Internal Medicine, Shinshu University School of Medicine, Matsumoto
kn-affil=
affil-num=3
en-affil=Center for Medical Genetics, Shinshu University Hospital
kn-affil=
affil-num=4
en-affil=Department of Dentistry and Oral Surgery, Shinshu University School of Medicine
kn-affil=
affil-num=5
en-affil=Department of Clinical Nutrition, Shinshu University Hospital
kn-affil=
affil-num=6
en-affil=Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Science
kn-affil=
affil-num=7
en-affil=Center for Medical Genetics, Shinshu University Hospital
kn-affil=
affil-num=8
en-affil=Division of Clinical Genetics, Kanazawa University Hospital
kn-affil=
affil-num=9
en-affil=Center for Medical Genetics, Shinshu University Hospital
kn-affil=
en-keyword=Hypophosphatasia
kn-keyword=Hypophosphatasia
en-keyword=Alkaline phosphatase
kn-keyword=Alkaline phosphatase
en-keyword=Genetic disease
kn-keyword=Genetic disease
en-keyword=Asfotase alfa
kn-keyword=Asfotase alfa
en-keyword=Recombinant gene therapy
kn-keyword=Recombinant gene therapy
en-keyword=Motor function
kn-keyword=Motor function
END
start-ver=1.4
cd-journal=joma
no-vol=113
cd-vols=
no-issue=
article-no=
start-page=33
end-page=41
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2020
dt-pub=202012
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Pyridoxal in the Cerebrospinal Fluid May Be a Better Indicator of Vitamin B6–dependent Epilepsy Than Pyridoxal 5′-Phosphate
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Background
We aimed to demonstrate the biochemical characteristics of vitamin B6–dependent epilepsy, with a particular focus on pyridoxal 5′-phosphate and pyridoxal in the cerebrospinal fluid.
Methods
Using our laboratory database, we identified patients with vitamin B6–dependent epilepsy and extracted their data on the concentrations of pyridoxal 5′-phosphate, pyridoxal, pipecolic acid, α-aminoadipic semialdehyde, and monoamine neurotransmitters. We compared the biochemical characteristics of these patients with those of other epilepsy patients with low pyridoxal 5′-phosphate concentrations.
Results
We identified seven patients with pyridoxine-dependent epilepsy caused by an ALDH7A1 gene abnormality, two patients with pyridoxal 5′-phosphate homeostasis protein deficiency, and 28 patients with other epilepsies with low cerebrospinal fluid pyridoxal 5′-phosphate concentrations. Cerebrospinal fluid pyridoxal and pyridoxal 5′-phosphate concentrations were low in patients with vitamin B6–dependent epilepsy but cerebrospinal fluid pyridoxal concentrations were not reduced in most patients with other epilepsies with low cerebrospinal fluid pyridoxal 5′-phosphate concentrations. Increase in 3-O-methyldopa and 5-hydroxytryptophan was demonstrated in some patients with vitamin B6–dependent epilepsy, suggestive of pyridoxal 5′-phosphate deficiency in the brain.
Conclusions
Low cerebrospinal fluid pyridoxal concentrations may be a better indicator of pyridoxal 5′-phosphate deficiency in the brain in vitamin B6–dependent epilepsy than low cerebrospinal fluid pyridoxal 5′-phosphate concentrations. This finding is especially helpful in individuals with suspected pyridoxal 5′-phosphate homeostasis protein deficiency, which does not have known biomarkers.
en-copyright=
kn-copyright=
en-aut-name=AkiyamaTomoyuki
en-aut-sei=Akiyama
en-aut-mei=Tomoyuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=
en-aut-name=HyodoYuki
en-aut-sei=Hyodo
en-aut-mei=Yuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=
en-aut-name=HasegawaKosei
en-aut-sei=Hasegawa
en-aut-mei=Kosei
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=
en-aut-name=OboshiTaikan
en-aut-sei=Oboshi
en-aut-mei=Taikan
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=
en-aut-name=ImaiKatsumi
en-aut-sei=Imai
en-aut-mei=Katsumi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=
en-aut-name=IshiharaNaoko
en-aut-sei=Ishihara
en-aut-mei=Naoko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=
en-aut-name=DowaYuri
en-aut-sei=Dowa
en-aut-mei=Yuri
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=
en-aut-name=KoikeTakayoshi
en-aut-sei=Koike
en-aut-mei=Takayoshi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=
en-aut-name=YamamotoToshiyuki
en-aut-sei=Yamamoto
en-aut-mei=Toshiyuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=9
ORCID=
en-aut-name=ShibasakiJun
en-aut-sei=Shibasaki
en-aut-mei=Jun
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=10
ORCID=
en-aut-name=ShimboHiroko
en-aut-sei=Shimbo
en-aut-mei=Hiroko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=11
ORCID=
en-aut-name=FukuyamaTetsuhiro
en-aut-sei=Fukuyama
en-aut-mei=Tetsuhiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=12
ORCID=
en-aut-name=TakanoKyoko
en-aut-sei=Takano
en-aut-mei=Kyoko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=13
ORCID=
en-aut-name=ShirakuHiroshi
en-aut-sei=Shiraku
en-aut-mei=Hiroshi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=14
ORCID=
en-aut-name=TakeshitaSaoko
en-aut-sei=Takeshita
en-aut-mei=Saoko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=15
ORCID=
en-aut-name=OkanishiTohru
en-aut-sei=Okanishi
en-aut-mei=Tohru
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=16
ORCID=
en-aut-name=BabaShimpei
en-aut-sei=Baba
en-aut-mei=Shimpei
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=17
ORCID=
en-aut-name=KubotaMasaya
en-aut-sei=Kubota
en-aut-mei=Masaya
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=18
ORCID=
en-aut-name=HamanoShin-ichiro
en-aut-sei=Hamano
en-aut-mei=Shin-ichiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=19
ORCID=
en-aut-name=KobayashiKatsuhiro
en-aut-sei=Kobayashi
en-aut-mei=Katsuhiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=20
ORCID=
affil-num=1
en-affil=Department of Child Neurology, Okayama University Hospital
kn-affil=
affil-num=2
en-affil=Department of Child Neurology, Okayama University Hospital
kn-affil=
affil-num=3
en-affil=Department of Pediatrics, Okayama University Hospital
kn-affil=
affil-num=4
en-affil=Department of Pediatric Neurology, Osaka Women’s and Children’s Hospital
kn-affil=
affil-num=5
en-affil=Department of Pediatrics, NHO Shizuoka Institute of Epilepsy and Neurological Disorders
kn-affil=
affil-num=6
en-affil=Department of Pediatrics, Fujita Health University School of Medicine
kn-affil=
affil-num=7
en-affil=Department of Neurology, Gunma Children’s Medical Center
kn-affil=
affil-num=8
en-affil=Department of Pediatrics, NHO Shizuoka Institute of Epilepsy and Neurological Disorders
kn-affil=
affil-num=9
en-affil=Institute of Clinical Genomics, Tokyo Women’s Medical University
kn-affil=
affil-num=10
en-affil=Department of Neonatology, Kanagawa Children’s Medical Center
kn-affil=
affil-num=11
en-affil=Clinical Institute, Kanagawa Children’s Medical Center
kn-affil=
affil-num=12
en-affil=Department of Pediatrics, Shinshu University
kn-affil=
affil-num=13
en-affil=Center for Medical Genetics, Shinshu University Hospital
kn-affil=
affil-num=14
en-affil=Department of Pediatrics, JA Toride Medical Center
kn-affil=
affil-num=15
en-affil=Department of Pediatrics, Yokohama City University Medical Center
kn-affil=
affil-num=16
en-affil=Department of Child Neurology, Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital
kn-affil=
affil-num=17
en-affil=Department of Child Neurology, Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital
kn-affil=
affil-num=18
en-affil=Division of Neurology, National Center for Child Health and Development
kn-affil=
affil-num=19
en-affil=Division of Neurology, Saitama Children’s Medical Center
kn-affil=
affil-num=20
en-affil=Department of Child Neurology, Okayama University Hospital
kn-affil=
en-keyword=ALDH7A1
kn-keyword=ALDH7A1
en-keyword=PLPBP
kn-keyword=PLPBP
en-keyword=PLPHP
kn-keyword=PLPHP
en-keyword=PROSC
kn-keyword=PROSC
en-keyword=Pyridoxal 5′-phosphate homeostasis protein deficiency
kn-keyword=Pyridoxal 5′-phosphate homeostasis protein deficiency
en-keyword=Pyridoxine-dependent epilepsy
kn-keyword=Pyridoxine-dependent epilepsy
END
start-ver=1.4
cd-journal=joma
no-vol=40
cd-vols=
no-issue=9
article-no=
start-page=781
end-page=785
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2018
dt-pub=20180114
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Differential diagnosis of nonepileptic twilight state with convulsive manifestations after febrile seizures
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Background
Nonepileptic twilight state with convulsive manifestations (NETC) is a nonepileptic state following a febrile seizure (FS), which may be misdiagnosed as a prolonged seizure and result in overtreatment. We aimed to describe clinical manifestations of NETC and to determine characteristics that are helpful to distinguish NETC from other pathological conditions.
Methods
We conducted a retrospective chart review from January 2010 to December 2016 and selected the patients who presented with symptoms resembling status epilepticus with fever and a confirmed diagnosis using an electroencephalogram (EEG). We compared the NETC clinical features and venous blood gas analysis results with those of other conditions that mimic NETC. We also compared the characteristics of NETC with past reports.
Results
Our NETC patients presented with short durations of the preceding generalized convulsions followed by tonic posturing, closed eyes, no cyanosis, responsiveness to painful stimulation, and no accumulation of CO2 in the venous blood gas. Most of these characteristics were consistent with past reports. Prolonged FS or acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) showed several of these features, but all the characteristics were not consistent with our study.
Conclusions
Prolonged FS and AESD need to be differentiated from NETC, and close clinical observation makes it possible to partially distinguish NETC from the other conditions. EEG is recommended for patients with symptoms that are inconsistent with these features.
en-copyright=
kn-copyright=
en-aut-name=MiyaharaHiroyuki
en-aut-sei=Miyahara
en-aut-mei=Hiroyuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=
en-aut-name=AkiyamaTomoyuki
en-aut-sei=Akiyama
en-aut-mei=Tomoyuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=
en-aut-name=WakiKenji
en-aut-sei=Waki
en-aut-mei=Kenji
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=
en-aut-name=ArakakiYoshio
en-aut-sei=Arakaki
en-aut-mei=Yoshio
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=
affil-num=1
en-affil=Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=
affil-num=2
en-affil=Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=
affil-num=3
en-affil=Department of Pediatrics, Kurashiki Central Hospital
kn-affil=
affil-num=4
en-affil=Department of Pediatrics, Kurashiki Central Hospital
kn-affil=
en-keyword=Prolonged febrile seizure
kn-keyword=Prolonged febrile seizure
en-keyword=Acute encephalopathy with biphasic seizures and late reduced diffusion
kn-keyword=Acute encephalopathy with biphasic seizures and late reduced diffusion
en-keyword=Venous blood gas analysis
kn-keyword=Venous blood gas analysis
en-keyword=Electroencephalogram
kn-keyword=Electroencephalogram
en-keyword=Clinical characteristics
kn-keyword=Clinical characteristics
en-keyword=Venous blood gas
kn-keyword=Venous blood gas
END
start-ver=1.4
cd-journal=joma
no-vol=62
cd-vols=
no-issue=5
article-no=
start-page=587
end-page=592
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2020
dt-pub=20200119
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Laboratory changes during adrenocorticotropic hormone therapy associated with renal calcified lesions
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Background
Renal calcified lesions are known as one of the complications during adrenocorticotropic hormone (ACTH) therapy for intractable epilepsy. However, laboratory changes during the therapy or laboratory features of high‐risk cases with renal calcified lesions are yet to be clarified.
Methods
In this study, 43 patients with West syndrome aged ≤2 years were included. We retrospectively reviewed age and body mass index at the beginning of ACTH therapy, as well as the amount of fluid intake, daily urinary volume, and laboratory data during therapy. In addition, we studied the urinary sediment of the cases with renal calcified lesions diagnosed by computed tomography.
Results
After initiating ACTH treatment, urinary calcium (Ca)/creatinine ratio and urinary pH increased within 2 weeks. Urinary crystals and renal tubular epithelial cells (RTECs) in urinary sediment were frequently found in most cases. Urinary Ca levels, proteinuria or frequency of urinary crystals, and number of RTECs in the urinary sediment were significantly higher in patients with epithelial casts (ECs) or hematuria than in patients without these findings. Among the seven patients who underwent abdominal CT, ECs or hematuria were found only in those with renal calcified lesions. These findings suggested that patients with ECs or hematuria were more likely to have calcified lesions.
Conclusions
The risk of renal calcified lesions increased after 2 weeks of ACTH treatment. Abnormal findings in urinary sediments might be an early sign of renal calcification during ACTH therapy.
en-copyright=
kn-copyright=
en-aut-name=MiyaharaHiroyuki
en-aut-sei=Miyahara
en-aut-mei=Hiroyuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=
en-aut-name=AkiyamaTomoyuki
en-aut-sei=Akiyama
en-aut-mei=Tomoyuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=
en-aut-name=HasegawaKosei
en-aut-sei=Hasegawa
en-aut-mei=Kosei
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=
en-aut-name=AkiyamaMari
en-aut-sei=Akiyama
en-aut-mei=Mari
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=
en-aut-name=OkaMakio
en-aut-sei=Oka
en-aut-mei=Makio
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=
en-aut-name=KobayashiKatsuhiro
en-aut-sei=Kobayashi
en-aut-mei=Katsuhiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=
en-aut-name=TsukaharaHirokazu
en-aut-sei=Tsukahara
en-aut-mei=Hirokazu
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=
affil-num=1
en-affil=Department of Pediatrics, Okayama University Hospital
kn-affil=
affil-num=2
en-affil=Department of Child Neurology, Okayama University Hospital
kn-affil=
affil-num=3
en-affil=Department of Pediatrics, Okayama University Hospital
kn-affil=
affil-num=4
en-affil=Department of Child Neurology, Dentistry and Pharmaceutical Sciences, Okayama University Graduate School of Medicine
kn-affil=
affil-num=5
en-affil=Department of Child Neurology, Dentistry and Pharmaceutical Sciences, Okayama University Graduate School of Medicine
kn-affil=
affil-num=6
en-affil=Department of Child Neurology, Okayama University Hospital
kn-affil=
affil-num=7
en-affil=Department of Dentistry and Pharmaceutical Sciences, Okayama University Graduate School of Medicine
kn-affil=
en-keyword=adrenocorticotropic hormone therapy
kn-keyword=adrenocorticotropic hormone therapy
en-keyword=calcium
kn-keyword=calcium
en-keyword=crystal
kn-keyword=crystal
en-keyword=renal tubular epithelial cell
kn-keyword=renal tubular epithelial cell
en-keyword=urinary sediment
kn-keyword=urinary sediment
END
start-ver=1.4
cd-journal=joma
no-vol=125
cd-vols=
no-issue=1-2
article-no=
start-page=174
end-page=180
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2018
dt-pub=20180717
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Pyridoxal 5′-phosphate and related metabolites in hypophosphatasia: Effects of enzyme replacement therapy
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Objective
To investigate the utility of serum pyridoxal 5′-phosphate (PLP), pyridoxal (PL), and 4-pyridoxic acid (PA) as a diagnostic marker of hypophosphatasia (HPP) and an indicator of the effect of, and patient compliance with, enzyme replacement therapy (ERT), we measured PLP, PL, and PA concentrations in serum samples from HPP patients with and without ERT.
Methods
Blood samples were collected from HPP patients and serum was frozen as soon as possible (mostly within one hour). PLP, PL, and PA concentrations were analyzed using high-performance liquid chromatography with fluorescence detection after pre-column derivatization by semicarbazide. We investigated which metabolites are associated with clinical phenotypes and how these metabolites change with ERT.
Results
Serum samples from 20 HPP patients were analyzed. The PLP-to-PL ratio and PLP concentration were elevated in all HPP patients. They correlated negatively with serum alkaline phosphatase (ALP) activity and showed higher values in more severe phenotypes (perinatal severe and infantile HPP) compared with other phenotypes. PL concentration was reduced only in perinatal severe HPP. ERT reduced the PLP-to-PL ratio to mildly reduced or low-normal levels and the PLP concentration was reduced to normal or mildly elevated levels. Urine phosphoethanolamine (PEA) concentration did not return to normal levels with ERT in most patients.
Conclusions
The serum PLP-to-PL ratio is a better indicator of the effect of ERT for HPP than serum PLP and urine PEA concentrations, and a PLP-to-PL ratio of <4.0 is a good indicator of the effect of, and patient compliance with, ERT.
en-copyright=
kn-copyright=
en-aut-name=AkiyamaTomoyuki
en-aut-sei=Akiyama
en-aut-mei=Tomoyuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=
en-aut-name=KubotaTakuo
en-aut-sei=Kubota
en-aut-mei=Takuo
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=
en-aut-name=OzonoKeiichi
en-aut-sei=Ozono
en-aut-mei=Keiichi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=
en-aut-name=MichigamiToshimi
en-aut-sei=Michigami
en-aut-mei=Toshimi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=
en-aut-name=KobayashiDaisuke
en-aut-sei=Kobayashi
en-aut-mei=Daisuke
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=
en-aut-name=TakeyariShinji
en-aut-sei=Takeyari
en-aut-mei=Shinji
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=
en-aut-name=SugiyamaYuichiro
en-aut-sei=Sugiyama
en-aut-mei=Yuichiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=
en-aut-name=NodaMasahiro
en-aut-sei=Noda
en-aut-mei=Masahiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=
en-aut-name=HaradaDaisuke
en-aut-sei=Harada
en-aut-mei=Daisuke
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=9
ORCID=
en-aut-name=NambaNoriyuki
en-aut-sei=Namba
en-aut-mei=Noriyuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=10
ORCID=
en-aut-name=SuzukiAtsushi
en-aut-sei=Suzuki
en-aut-mei=Atsushi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=11
ORCID=
en-aut-name=UtoyamaMaiko
en-aut-sei=Utoyama
en-aut-mei=Maiko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=12
ORCID=
en-aut-name=KitanakaSachiko
en-aut-sei=Kitanaka
en-aut-mei=Sachiko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=13
ORCID=
en-aut-name=UematsuMitsugu
en-aut-sei=Uematsu
en-aut-mei=Mitsugu
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=14
ORCID=
en-aut-name=MitaniYusuke
en-aut-sei=Mitani
en-aut-mei=Yusuke
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=15
ORCID=
en-aut-name=MatsunamiKunihiro
en-aut-sei=Matsunami
en-aut-mei=Kunihiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=16
ORCID=
en-aut-name=TakishimaShigeru
en-aut-sei=Takishima
en-aut-mei=Shigeru
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=17
ORCID=
en-aut-name=OgawaErika
en-aut-sei=Ogawa
en-aut-mei=Erika
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=18
ORCID=
en-aut-name=KobayashiKatsuhiro
en-aut-sei=Kobayashi
en-aut-mei=Katsuhiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=19
ORCID=
affil-num=1
en-affil=Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=
affil-num=2
en-affil=Department of Pediatrics, Osaka University Graduate School of Medicine
kn-affil=
affil-num=3
en-affil=Department of Pediatrics, Osaka University Graduate School of Medicine
kn-affil=
affil-num=4
en-affil=Department of Bone and Mineral Research, Osaka Women's and Children's Hospital
kn-affil=
affil-num=5
en-affil=Department of Food and Chemical Toxicology, School of Pharmaceutical Sciences, Health Sciences University of Hokkaido
kn-affil=
affil-num=6
en-affil=Department of Pediatrics, Osaka University Graduate School of Medicine
kn-affil=
affil-num=7
en-affil=Department of Pediatrics, Nagoya University Graduate School of Medicine
kn-affil=
affil-num=8
en-affil=Department of Pediatrics, Showa General Hospital
kn-affil=
affil-num=9
en-affil=Department of Pediatrics, Osaka Hospital, Japan Community Healthcare Organization
kn-affil=
affil-num=10
en-affil=Department of Pediatrics, Osaka Hospital, Japan Community Healthcare Organization
kn-affil=
affil-num=11
en-affil=Department of Neonatology and Pediatrics, Nagoya City University Graduate School of Medical Sciences
kn-affil=
affil-num=12
en-affil=Department of Pediatrics, Faculty of Medicine, University of Miyazaki
kn-affil=
affil-num=13
en-affil=Department of Pediatrics, Graduate School of Medicine, University of Tokyo
kn-affil=
affil-num=14
en-affil=Department of Pediatrics, Tohoku University Graduate School of Medicine
kn-affil=
affil-num=15
en-affil=Department of Pediatrics, Kanazawa University Hospital
kn-affil=
affil-num=16
en-affil=Department of Pediatrics, Gifu Prefectural General Medical Center
kn-affil=
affil-num=17
en-affil=Department of Pediatrics, Soka Municipal Hospital
kn-affil=
affil-num=18
en-affil=Department of Pediatrics and Child Health, Nihon University School of Medicine
kn-affil=
affil-num=19
en-affil=Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=
en-keyword=Asfotase alfa
kn-keyword=Asfotase alfa
en-keyword=Liquid chromatography
kn-keyword=Liquid chromatography
en-keyword=Vitamin B6
kn-keyword=Vitamin B6
en-keyword=Diagnostic marker
kn-keyword=Diagnostic marker
en-keyword=Therapeutic monitoring
kn-keyword=Therapeutic monitoring
END
start-ver=1.4
cd-journal=joma
no-vol=42
cd-vols=
no-issue=5
article-no=
start-page=402
end-page=407
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2020
dt-pub=202005
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Vitamin B6 in acute encephalopathy with biphasic seizures and late reduced diffusion
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Background
The initial presentation of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is indistinguishable from that of complex febrile seizures (FS), which poses a great diagnostic challenge for clinicians. Excitotoxicity is speculated to be the pathogenesis of AESD. Vitamin B6 (VB6) is essential for the biosynthesis of gamma-aminobutyric acid, an inhibitory neurotransmitter. The aim of this study is to investigate our hypothesis that VB6 deficiency in the brain may play a role in AESD.
Methods
We obtained cerebrospinal fluid (CSF) samples from pediatric patients with AESD after early seizures and those with FS. We measured pyridoxal 5′-phosphate (PLP) and pyridoxal (PL) concentrations in the CSF samples using high-performance liquid chromatography with fluorescence detection.
Results
The subjects were 5 patients with AESD and 17 patients with FS. Age did not differ significantly between AESD and FS. In AESD, CSF PLP concentration was marginally lower (p = 0.0999) and the PLP-to-PL ratio was significantly (p = 0.0417) reduced compared to those in FS.
Conclusions
Although it is impossible to conclude that low PLP concentration and PLP-to-PL ratio are causative of AESD, this may be a risk factor for developing AESD. When combined with other markers, this finding may be useful in distinguishing AESD from FS upon initial presentation.
en-copyright=
kn-copyright=
en-aut-name=AkiyamaTomoyuki
en-aut-sei=Akiyama
en-aut-mei=Tomoyuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=
en-aut-name=TodaSoichiro
en-aut-sei=Toda
en-aut-mei=Soichiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=
en-aut-name=KimuraNobusuke
en-aut-sei=Kimura
en-aut-mei=Nobusuke
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=
en-aut-name=MogamiYukiko
en-aut-sei=Mogami
en-aut-mei=Yukiko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=
en-aut-name=TokorodaniChiho
en-aut-sei=Tokorodani
en-aut-mei=Chiho
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=
en-aut-name=ItoTomoshiro
en-aut-sei=Ito
en-aut-mei=Tomoshiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=
en-aut-name=MiyaharaHiroyuki
en-aut-sei=Miyahara
en-aut-mei=Hiroyuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=
en-aut-name=HyodoYuki
en-aut-sei=Hyodo
en-aut-mei=Yuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=
en-aut-name=KobayashiKatsuhiro
en-aut-sei=Kobayashi
en-aut-mei=Katsuhiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=9
ORCID=
affil-num=1
en-affil=Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
kn-affil=
affil-num=2
en-affil=
kn-affil=
affil-num=3
en-affil=Department of Pediatrics, Japanese Red Cross Otsu Hospital
kn-affil=
affil-num=4
en-affil=Department of Pediatric Neurology, Osaka Women’s and Children’s Hospital
kn-affil=
affil-num=5
en-affil=Department of Pediatrics, Kochi Health Sciences Center
kn-affil=
affil-num=6
en-affil=Department of Pediatrics, Sapporo City General Hospital
kn-affil=
affil-num=7
en-affil=Department of Pediatrics, Kurashiki Central Hospital
kn-affil=
affil-num=8
en-affil=Department of Child Neurology, Okayama University Hospital
kn-affil=
affil-num=9
en-affil=Department of Child Neurology, Okayama University Hospital
kn-affil=
en-keyword=AESD
kn-keyword=AESD
en-keyword=Biomarker
kn-keyword=Biomarker
en-keyword=Febrile seizure
kn-keyword=Febrile seizure
en-keyword=Pyridoxal 5′-phosphate
kn-keyword=Pyridoxal 5′-phosphate
en-keyword=Pyridoxal kinase
kn-keyword=Pyridoxal kinase
en-keyword=Risk factor
kn-keyword=Risk factor
END
start-ver=1.4
cd-journal=joma
no-vol=74
cd-vols=
no-issue=1
article-no=
start-page=65
end-page=72
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2020
dt-pub=202002
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Metabolic Profiling of the Cerebrospinal Fluid in Pediatric Epilepsy
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract= To characterize metabolic profiles within the central nervous system in epilepsy, we performed gas chromatography-tandem mass spectrometry (GC-MS/MS)-based metabolome analysis of the cerebrospinal fluid (CSF) in pediatric patients with and without epilepsy. The CSF samples obtained from 64 patients were analyzed by GC-MS/MS. Multivariate analyses were performed for two age groups, 0-5 years of age and 6-17 years of age, to elucidate the effects of epilepsy and antiepileptic drugs on the metabolites. In patients aged 0-5 years (22 patients with epilepsy, 13 without epilepsy), epilepsy patients had reduced 2-ketoglutaric acid and elevated pyridoxamine and tyrosine. In patients aged 6-17 years (12 with epilepsy, 17 without epilepsy), epilepsy patients had reduced 1,5-anhydroglucitol. Valproic acid was associated with elevated 2-aminobutyric acid, 2-ketoisocaproic acid, 4-hydroxyproline, acetylglycine, methionine, N-acetylserine, and serine. Reduced energy metabolism and alteration of vitamin B6 metabolism may play a role in epilepsy in young children. The roles of 1,5-anhydroglucitol in epilepsy in older children and in levetiracetam and zonisamide treatment remain to be explained. Valproic acid influenced the levels of amino acids and related metabolites involved in the metabolism of serine, methionine, and leucine.
en-copyright=
kn-copyright=
en-aut-name=AkiyamaTomoyuki
en-aut-sei=Akiyama
en-aut-mei=Tomoyuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=
en-aut-name=SaigusaDaisuke
en-aut-sei=Saigusa
en-aut-mei=Daisuke
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=
en-aut-name=HyodoYuki
en-aut-sei=Hyodo
en-aut-mei=Yuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=
en-aut-name=UmedaKeiko
en-aut-sei=Umeda
en-aut-mei=Keiko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=
en-aut-name=SaijoReina
en-aut-sei=Saijo
en-aut-mei=Reina
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=
en-aut-name=KoshibaSeizo
en-aut-sei=Koshiba
en-aut-mei=Seizo
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=
en-aut-name=KobayashiKatsuhiro
en-aut-sei=Kobayashi
en-aut-mei=Katsuhiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=
affil-num=1
en-affil=Department of Child Neurology, Okayama University Hospital
kn-affil=
affil-num=2
en-affil=Tohoku Medical Megabank Organization, Tohoku University
kn-affil=
affil-num=3
en-affil=Department of Child Neurology, Okayama University Hospital
kn-affil=
affil-num=4
en-affil=Tohoku Medical Megabank Organization, Tohoku University
kn-affil=
affil-num=5
en-affil=Tohoku Medical Megabank Organization, Tohoku University
kn-affil=
affil-num=6
en-affil=Tohoku Medical Megabank Organization, Tohoku University
kn-affil=
affil-num=7
en-affil=Department of Child Neurology, Okayama University Hospital
kn-affil=
en-keyword=antiepileptic drugs
kn-keyword=antiepileptic drugs
en-keyword=gas chromatography-tandem mass spectrometry
kn-keyword=gas chromatography-tandem mass spectrometry
en-keyword=metabolome analysis
kn-keyword=metabolome analysis
en-keyword=metabolomics
kn-keyword=metabolomics
END
start-ver=1.4
cd-journal=joma
no-vol=21
cd-vols=
no-issue=
article-no=
start-page=100515
end-page=
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2019
dt-pub=20191231
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Clinical and genetic aspects of mild hypophosphatasia in Japanese patients
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Background: Hypophosphatasia (HPP) is a rare inborn error of metabolism that results from a dysfunctional tissue non-specific alkaline phosphatase enzyme (TNSALP). Although genotype-phenotype correlations have been described in HPP patients, only sparse information is currently available on the genetics of mild type HPP.
Methods: We investigated 5 Japanese patients from 3 families with mild HPP (patients 1 and 2 are siblings; patient 4 is a daughter of patient 5) who were referred to Fujita Health University due to the premature loss of deciduous teeth. Physical and dental examinations, and blood, urine and bone density tests were conducted. Genetic analysis of the ALPL gene was performed in all patients with their informed consent.
Results: After a detailed interview and examination, we found characteristic symptoms of HPP in some of the study cases. Mobile teeth or the loss of permanent teeth were observed in 2 patients, and 3 out of 5 patients had a history of asthma. The serum ALP levels of all patients were 30% below the lower limit of the age equivalent normal range. ALPL gene analysis revealed compound heterozygous mutations, including Ile395Val and Leu520Argfs in family 1, Val95Met and Gly491Arg in family 2, and a dominant missense mutation (Gly456Arg) in family 3. The 3D-modeling of human TNSALP revealed three mutations (Val95Met, Ile395Val and Gly456Arg) at the homodimer interface. Severe collisions between the side chains were predicted for the Gly456Arg variant.
Discussion: One of the characteristic findings of this present study was a high prevalence of coexisting asthma and a high level serum IgE level. These characteristics may account for the fragility of tracheal tissues and a predisposition to asthma in patients with mild HPP. The genotypes of the five mild HPP patients in our present study series included 1) compound heterozygous for severe and hypomorphic mutations, and 2) dominant-negative mutations. All of these mutations were at the homodimer interface, but only the dominant-negative mutation was predicted to cause a severe collision effect between the side chains. This may account for varying mechanisms leading to different effects on TNSALP function.
en-copyright=
kn-copyright=
en-aut-name=YokoiKatsuyuki
en-aut-sei=Yokoi
en-aut-mei=Katsuyuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=
en-aut-name=NakajimaYoko
en-aut-sei=Nakajima
en-aut-mei=Yoko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=
en-aut-name=ShinkaiYasuko
en-aut-sei=Shinkai
en-aut-mei=Yasuko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=
en-aut-name=SanoYoshimi
en-aut-sei=Sano
en-aut-mei=Yoshimi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=
en-aut-name=ImamuraMototaka
en-aut-sei=Imamura
en-aut-mei=Mototaka
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=
en-aut-name=AkiyamaTomoyuki
en-aut-sei=Akiyama
en-aut-mei=Tomoyuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=
en-aut-name=YoshikawaTetsushi
en-aut-sei=Yoshikawa
en-aut-mei=Tetsushi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=
en-aut-name=ItoTetsuya
en-aut-sei=Ito
en-aut-mei=Tetsuya
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=
en-aut-name=KurahashiHiroki
en-aut-sei=Kurahashi
en-aut-mei=Hiroki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=9
ORCID=
affil-num=1
en-affil=Department of Pediatrics, Fujita Health University School of Medicine
kn-affil=
affil-num=2
en-affil=Department of Pediatrics, Fujita Health University School of Medicine
kn-affil=
affil-num=3
en-affil=Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University
kn-affil=
affil-num=4
en-affil=Department of Plastic Surgery, Division of Pediatric Dentistry & Orthodontics, Fujita Health University of Medicine
kn-affil=
affil-num=5
en-affil=Department of Plastic Surgery, Division of Pediatric Dentistry & Orthodontics, Fujita Health University of Medicine
kn-affil=
affil-num=6
en-affil=Department of Child Neurology, Okayama University Hospital
kn-affil=
affil-num=7
en-affil=Department of Pediatrics, Fujita Health University School of Medicine
kn-affil=
affil-num=8
en-affil=Department of Pediatrics, Fujita Health University School of Medicine
kn-affil=
affil-num=9
en-affil=Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University
kn-affil=
en-keyword=ALPL
kn-keyword=ALPL
en-keyword=Dominant-negative mutations
kn-keyword=Dominant-negative mutations
en-keyword=Hypophosphatasia
kn-keyword=Hypophosphatasia
en-keyword=Premature loss of deciduous
kn-keyword=Premature loss of deciduous
END