start-ver=1.4 cd-journal=joma no-vol=135 cd-vols= no-issue=3 article-no= start-page=116 end-page=122 dt-received= dt-revised= dt-accepted= dt-pub-year=2023 dt-pub=20231201 dt-online= en-article= kn-article= en-subject= kn-subject= en-title=Child neurology and childhood-onset intractable diseases kn-title=小児神経学と小児期発症難病 en-subtitle= kn-subtitle= en-abstract= kn-abstract= en-copyright= kn-copyright= en-aut-name=KobayashiKatsuhiro en-aut-sei=Kobayashi en-aut-mei=Katsuhiro kn-aut-name=小林勝弘 kn-aut-sei=小林 kn-aut-mei=勝弘 aut-affil-num=1 ORCID= affil-num=1 en-affil=Department of Pediatrics (Child Neurology), Faculty of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University kn-affil=岡山大学学術研究院医歯薬学域 発達神経病態学 en-keyword=指定難病 kn-keyword=指定難病 en-keyword=小児慢性特定疾患 kn-keyword=小児慢性特定疾患 en-keyword=発達性てんかん性脳症 kn-keyword=発達性てんかん性脳症 en-keyword=先天性代謝異常症 kn-keyword=先天性代謝異常症 END 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=135 cd-vols= no-issue=2 article-no= start-page=98 end-page=99 dt-received= dt-revised= dt-accepted= dt-pub-year=2023 dt-pub=20230801 dt-online= en-article= kn-article= en-subject= kn-subject= en-title=The 65th Annual Meeting of the Japanese Society of Child Neurology kn-title=第65回日本小児神経学会学術集会の開催報告 en-subtitle= kn-subtitle= en-abstract= kn-abstract= en-copyright= kn-copyright= en-aut-name=KobayashiKatsuhiro en-aut-sei=Kobayashi en-aut-mei=Katsuhiro kn-aut-name=小林勝弘 kn-aut-sei=小林 kn-aut-mei=勝弘 aut-affil-num=1 ORCID= affil-num=1 en-affil=Department of Pediatrics (Child Neurology), Faculty of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University kn-affil=岡山大学学術研究院医歯薬学域 発達神経病態学 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=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=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=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=128 cd-vols= no-issue=3 article-no= start-page=183 end-page=189 dt-received= dt-revised= dt-accepted= dt-pub-year=2016 dt-pub=20161201 dt-online= en-article= kn-article= en-subject= kn-subject= en-title=Electroencephalography:an old examination tool with a new meaning for childhood epilepsy kn-title=脳波:小児てんかんにおける古くて新しい検査 en-subtitle= kn-subtitle= en-abstract= kn-abstract= en-copyright= kn-copyright= en-aut-name=KobayashiKatsuhiro en-aut-sei=Kobayashi en-aut-mei=Katsuhiro kn-aut-name=小林勝弘 kn-aut-sei=小林 kn-aut-mei=勝弘 aut-affil-num=1 ORCID= affil-num=1 en-affil=Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences kn-affil=岡山大学大学院医歯薬学総合研究科 発達神経病態学 en-keyword=頭皮脳波 kn-keyword=頭皮脳波 en-keyword=点頭てんかん kn-keyword=点頭てんかん en-keyword=てんかん外科 kn-keyword=てんかん外科 en-keyword=高周波振動 kn-keyword=高周波振動 en-keyword=時間・周波数分析 kn-keyword=時間・周波数分析 END start-ver=1.4 cd-journal=joma no-vol=66 cd-vols= no-issue=6 article-no= start-page=487 end-page=492 dt-received= dt-revised= dt-accepted= dt-pub-year=2012 dt-pub=201212 dt-online= en-article= kn-article= en-subject= kn-subject= en-title= kn-title=Successful Treatment of Epilepsy by Resection of Periventricular Nodular Heterotopia en-subtitle= kn-subtitle= en-abstract= kn-abstract=We report on a case of successful surgical treatment of drug-resistant epilepsy associated with a solitary lesion of periventricular nodular heterotopia (PNH). In the reported patient, intracranial ictal electroencephalography disclosed that seizures did not originate from the heterotopic nodules. However, the seizures were completely suppressed by lesionectomy of PNH alone. Epileptogenesis associated with PNH likely involves a very complex network between PNH and the surrounding cortex, and the disruption of this network may be an effective means of curing intractable, PNH-associated epilepsy. en-copyright= kn-copyright= en-aut-name=AgariTakashi en-aut-sei=Agari en-aut-mei=Takashi kn-aut-name= kn-aut-sei= kn-aut-mei= aut-affil-num=1 ORCID= en-aut-name=MiharaTadahiro en-aut-sei=Mihara en-aut-mei=Tadahiro kn-aut-name= kn-aut-sei= kn-aut-mei= aut-affil-num=2 ORCID= en-aut-name=BabaKoichi en-aut-sei=Baba en-aut-mei=Koichi kn-aut-name= kn-aut-sei= kn-aut-mei= aut-affil-num=3 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=4 ORCID= en-aut-name=UsuiNaotaka en-aut-sei=Usui en-aut-mei=Naotaka kn-aut-name= kn-aut-sei= kn-aut-mei= aut-affil-num=5 ORCID= en-aut-name=TeradaKiyohito en-aut-sei=Terada en-aut-mei=Kiyohito kn-aut-name= kn-aut-sei= kn-aut-mei= aut-affil-num=6 ORCID= en-aut-name=NakamuraFumihiro en-aut-sei=Nakamura en-aut-mei=Fumihiro kn-aut-name= kn-aut-sei= kn-aut-mei= aut-affil-num=7 ORCID= en-aut-name=MatsudaKazumi en-aut-sei=Matsuda en-aut-mei=Kazumi kn-aut-name= kn-aut-sei= kn-aut-mei= aut-affil-num=8 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=9 ORCID= affil-num=1 en-affil= kn-affil=Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences and Okayama University Hospital affil-num=2 en-affil= kn-affil=National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders affil-num=3 en-affil= kn-affil=National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders affil-num=4 en-affil= kn-affil=Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences and Okayama University Hospital affil-num=5 en-affil= kn-affil=National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders affil-num=6 en-affil= kn-affil=National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders affil-num=7 en-affil= kn-affil=National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders affil-num=8 en-affil= kn-affil=National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders affil-num=9 en-affil= kn-affil=Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences and Okayama University Hospital en-keyword=periventricular nodular heterotopia kn-keyword=periventricular nodular heterotopia en-keyword=epilepsy kn-keyword=epilepsy en-keyword=surgery kn-keyword=surgery en-keyword=ictal electroencephalography kn-keyword=ictal electroencephalography END start-ver=1.4 cd-journal=joma no-vol=66 cd-vols= no-issue=5 article-no= start-page=369 end-page=376 dt-received= dt-revised= dt-accepted= dt-pub-year=2012 dt-pub=201210 dt-online= en-article= kn-article= en-subject= kn-subject= en-title= kn-title=Dravet Syndrome : A Genetic Epileptic Disorder en-subtitle= kn-subtitle= en-abstract= kn-abstract=Dravet syndrome (DS), or severe myoclonic epilepsy in infancy, is one of the most severe types of genetic epilepsy. It is characterized by the initial occurrence of febrile or afebrile seizures that often evolve into status epilepticus in infants with normal development, and by the subsequent appearance of myoclonic and/or atypical absence seizures as well as complex partial seizures. The key feature that characterizes DS is fever sensitivity, although photosensitivity and pattern-sensitivity are also often seen. The prognosis is unfavorable in most cases. Seizures become drug-resistant and persist, with many patients suffering from motor and cognitive impairment. Mutations of SCN1A, which encodes the voltage-gated sodium channel NaV1.1, are the most frequent genetic cause of this syndrome. SCN1A mutations and/or microchromosomal rearrangements involving SCN1A are detected in about 85% of patients. Mutations of PCDH19 have also been reported in female patients with clinical findings compatible with DS. PCDH19 mutations might account for 5% of overall DS cases. Thirty years after its first description, DS is considered as a model of channelopathy. This survey reviews recent developments in the research literature on DS, focusing on the clinical course, as well as its genetic causes. 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=KobayashiKatsuhiro en-aut-sei=Kobayashi en-aut-mei=Katsuhiro kn-aut-name= kn-aut-sei= kn-aut-mei= aut-affil-num=2 ORCID= en-aut-name=OhtsukaYoko en-aut-sei=Ohtsuka en-aut-mei=Yoko kn-aut-name= kn-aut-sei= kn-aut-mei= aut-affil-num=3 ORCID= affil-num=1 en-affil= kn-affil=Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, and Okayama University Hospital affil-num=2 en-affil= kn-affil=Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, and Okayama University Hospital affil-num=3 en-affil= kn-affil=Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, and Okayama University Hospital en-keyword=Dravet syndrome kn-keyword=Dravet syndrome en-keyword=long-term outcome kn-keyword=long-term outcome en-keyword=SCN1A kn-keyword=SCN1A en-keyword=PCDH19 kn-keyword=PCDH19 END start-ver=1.4 cd-journal=joma no-vol=123 cd-vols= no-issue=2 article-no= start-page=91 end-page=95 dt-received= dt-revised= dt-accepted= dt-pub-year=2011 dt-pub=20110801 dt-online= en-article= kn-article= en-subject= kn-subject= en-title=A long-term follow-up study of Dravet syndrome up to adulthood kn-title=成人期に達したDravet症候群の長期経過に関する研究 en-subtitle= kn-subtitle= en-abstract= kn-abstract= en-copyright= kn-copyright= en-aut-name=AkiyamaMari en-aut-sei=Akiyama en-aut-mei=Mari kn-aut-name=秋山麻里 kn-aut-sei=秋山 kn-aut-mei=麻里 aut-affil-num=1 ORCID= en-aut-name=KobayashiKatsuhiro en-aut-sei=Kobayashi en-aut-mei=Katsuhiro kn-aut-name=小林勝弘 kn-aut-sei=小林 kn-aut-mei=勝弘 aut-affil-num=2 ORCID= en-aut-name=YoshinagaHarumi en-aut-sei=Yoshinaga en-aut-mei=Harumi kn-aut-name=吉永治美 kn-aut-sei=吉永 kn-aut-mei=治美 aut-affil-num=3 ORCID= en-aut-name=OhtsukaYoko en-aut-sei=Ohtsuka en-aut-mei=Yoko kn-aut-name=大塚頌子 kn-aut-sei=大塚 kn-aut-mei=頌子 aut-affil-num=4 ORCID= affil-num=1 en-affil= kn-affil=岡山大学大学院医歯薬学総合研究科 発達神経病態学 affil-num=2 en-affil= kn-affil=岡山大学大学院医歯薬学総合研究科 発達神経病態学 affil-num=3 en-affil= kn-affil=岡山大学大学院医歯薬学総合研究科 発達神経病態学 affil-num=4 en-affil= kn-affil=岡山大学大学院医歯薬学総合研究科 発達神経病態学 en-keyword=Dravet症候群 kn-keyword=Dravet症候群 en-keyword=乳児重症ミオクロニーてんかん kn-keyword=乳児重症ミオクロニーてんかん en-keyword=予後 kn-keyword=予後 en-keyword=けいれん性てんかん重積状態 kn-keyword=けいれん性てんかん重積状態 END start-ver=1.4 cd-journal=joma no-vol= cd-vols= no-issue= article-no= start-page= end-page= dt-received= dt-revised= dt-accepted= dt-pub-year=1987 dt-pub=19870331 dt-online= en-article= kn-article= en-subject= kn-subject= en-title= kn-title=大脳半球間脳波コヒーレンスの発達に関する研究 en-subtitle= kn-subtitle= en-abstract= kn-abstract= en-copyright= kn-copyright= en-aut-name= en-aut-sei= en-aut-mei= kn-aut-name=小林勝弘 kn-aut-sei=小林 kn-aut-mei=勝弘 aut-affil-num=1 ORCID= affil-num=1 en-affil= kn-affil=岡山大学 END