Brain & Development最新文献

{"title":"Cover","authors":"","doi":"10.1016/S0387-7604(24)00149-9","DOIUrl":"10.1016/S0387-7604(24)00149-9","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142554950","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-term observation of patients with advanced late-onset Pompe disease undergoing enzyme replacement therapy: A 15-year observation in a single center","authors":"Madoka Mori-Yoshimura ,&nbsp;Hotake Takizawa ,&nbsp;Atsushi Unuma ,&nbsp;Yasushi Oya ,&nbsp;Keisuke Yorimoto ,&nbsp;Wakana Katsuta ,&nbsp;Kenji Miyagi ,&nbsp;Noriko Sato ,&nbsp;Takatoshi Hara ,&nbsp;Yuji Takahashi","doi":"10.1016/j.braindev.2024.07.004","DOIUrl":"10.1016/j.braindev.2024.07.004","url":null,"abstract":"<div><h3>Background</h3><div>There have been few descriptions in the literature on long-term enzyme replacement therapy (ERT) in patients with advanced late-onset Pompe disease (LOPD).</div></div><div><h3>Objectives</h3><div>This study aimed to assess the efficacy and limitations of ERT in advanced LOPD patients.</div></div><div><h3>Methods</h3><div>We retrospectively reviewed the clinical courses of patients with advanced LOPD (two juvenile-onset and five adult-onset patients) who were treated with recombinant human alglucosidase alfa to examine improvements achieved with and limitations of ERT until their death or when switching to avalglucosidase alfa occurred.</div></div><div><h3>Results</h3><div>All patients were non-ambulant and ventilator dependent. The duration of follow-up ranged from 3.7 to 15.0 years (median 9.0 years). All patients reported improvements in their lives during the first two or three years of ERT. Vital capacity was clearly improved in patients with relatively spared respiratory function, although it deteriorated after respiratory complications such as pneumothorax. Pinch and grip power tended to be preserved during the treatment period. Muscle CT revealed progression of atrophy and fatty replacement predominantly in the proximal limb muscles without improvement after ERT. Four patients died due to aspergillosis, respiratory failure, ileus, and sudden death of unknown cause.</div></div><div><h3>Conclusions</h3><div>Our findings demonstrate that patients undergoing ERT show certain improvements, even in the advanced stage of Pompe disease. Respiratory complications are lethal even during ERT, and early diagnosis and induction of therapy are critical. Muscle wasting progressed more severely in the proximal limbs, even after ERT.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141984021","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Obituary Dr. Milivoj Velickovic Perat","authors":"","doi":"10.1016/j.braindev.2024.10.007","DOIUrl":"10.1016/j.braindev.2024.10.007","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142554949","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A nationwide survey of Vici syndrome in Japan","authors":"Ikumi Hori ,&nbsp;Toshihiko Iwaki ,&nbsp;Emi Sato ,&nbsp;Daisuke Ieda ,&nbsp;Yutaka Negishi ,&nbsp;Ayako Hattori ,&nbsp;Shinji Saitoh","doi":"10.1016/j.braindev.2024.08.001","DOIUrl":"10.1016/j.braindev.2024.08.001","url":null,"abstract":"<div><h3>Background</h3><div>Vici syndrome (VICIS) is a congenital disorder characterized by agenesis of the corpus callosum, cataracts, hypopigmentation, cardiomyopathy, combined immunodeficiency, microcephaly, and failure to thrive. This study aimed to elucidate the number of patients with VICIS, its clinical characteristics and relevant genetic information in Japan.</div></div><div><h3>Methods</h3><div>After developing diagnostic criteria for VICIS, we conducted a nationwide questionnaire-based survey of VICIS in Japan. In the initial survey, we investigated the number of VICIS patients who fulfilled definite or probable criteria. The second survey was used to obtain detailed clinical and genetic information of VICIS from institutions that responded to the initial survey.</div></div><div><h3>Results</h3><div>Clinical information was available for 15 patients (12 definite, three probable). As of October 2023, nine patients (60%) were alive and six (40%) had died. All patients presented with developmental delay, agenesis of the corpus callosum, elevated serum aspartate/alanine aminotransferase, hypopigmentation and hypotonia. Developmental delay was profound. Most patients developed recurrent infection, high-arched palate, epilepsy, failure to thrive, and microcephaly. Cardiomyopathy and cataracts, both initially described as principal features in VICIS, were notably uncommon in our study. Based on the information collected, all 14 patients for whom information was available received home medical care: 11 (79%) received tube feeding, three (21%) required noninvasive ventilation, four (29%) required tracheostomy, and four (29%) required home subcutaneous immunoglobulin administration.</div></div><div><h3>Conclusion</h3><div>This study revealed for the first time the nationwide status of patients with VICIS in Japan. The mortality rate of patients with VICIS is as high as 40%, and almost all VICIS patients require various forms of home medical care, necessitating comprehensive management. Additionally, we identified one adult patient, underscoring the need for comprehensive medical management extending into adulthood for patients with VICIS.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142010020","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Longitudinal study for the early detection of autism in children with very preterm birth","authors":"Marta Marín Soro ,&nbsp;Laura Gisbert Gustemps ,&nbsp;Héctor Boix Alonso ,&nbsp;Sergi Martínez-Maldonado ,&nbsp;Ricard Coronado Contreras","doi":"10.1016/j.braindev.2024.08.006","DOIUrl":"10.1016/j.braindev.2024.08.006","url":null,"abstract":"<div><h3>Introduction</h3><div>Very preterm birth is an important risk factor for autism spectrum disorder (ASD). The aim of this study is the early detection of ASD risk, using a follow-up protocol, in children weighing less than 1500 g at birth or born before 32 weeks of gestation.</div></div><div><h3>Methods</h3><div>This is a prospective longitudinal study in which a total of 133 very premature babies were monitored to the age of 2 years with the M-CHAT autism screening test and, in the event of a positive result, the Autism Diagnostic Observation Schedule (ADOS-2).</div></div><div><h3>Results</h3><div>53 cases (4 out of 10) screened positive, and the rest negative. Among the positives, the ADOS-2 was administered in 50 cases, of which 24 scored above the ASD cutoff point. The average age of detection was 25.39 months. The results suggest an estimated prevalence of ASD in the very premature population of 18.46 %.</div></div><div><h3>Conclusions</h3><div>The application of the follow-up protocol in the very premature population is effective for early detection of ASD.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142147013","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Myelin oligodendrocyte glycoprotein antibody-associated cerebral cortical encephalitis with super-refractory status epilepticus","authors":"Yayoi Shide-Moriguchi ,&nbsp;Naohiro Yamamoto ,&nbsp;Ichiro Kuki ,&nbsp;Hiroshi Sakuma ,&nbsp;Sayaka Yoshida","doi":"10.1016/j.braindev.2024.09.001","DOIUrl":"10.1016/j.braindev.2024.09.001","url":null,"abstract":"<div><div><em>Background:</em> Seizures are commonly reported in patients with myelin oligodendrocyte glycoprotein antibody-associated cerebral cortical encephalitis (MOG-CCE). However, seizure management during the acute phase has not been established. <em>Case Report:</em> A 9-year-old previously healthy boy presented with fever persisting for approximately 6 days, along with headache and altered consciousness. Plain T2-weighted and fluid-attenuated inversion recovery imaging showed swelling and abnormal hyperintense lesions in the bilateral frontal, parietal, temporal, and insular cortices with left hemisphere predominance. Consciousness disturbance persisted, and focal myoclonic seizures clustered hourly. Seizures were arrested by titrating the thiopental dose but recurred with dose reduction, and the patient exhibited super refractory status epilepticus. Adverse effects due to long-term use of thiopental became apparent. Hence, continuous infusion of ketamine and intrathecal dexamethasone therapy (IT-DEX) was started. After administration of ketamine and IT-DEX, his seizure was arrested promptly. The cerebrospinal fluid and serum at the time of transfer were clear positive for ani-MOG antibody; therefore, the patient was diagnosed with MOG-CCE. The patient received three courses of intravenous methylprednisolone pulse therapy, followed by oral prednisolone gradually tapered over 6 months. He did not experience any relapse for 6 months. <em>Conclusion:</em> In MOG-CCE, some cases may present with super-refractory status epilepticus (SRSE) in the acute phase and be refractory to anti-seizure medication, analogous to febrile infection-related epilepsy syndrome. IT-DEX and continuous infusion ketamine are useful for seizure control in MOG-CCE.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142301814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Letter to the editor: \"Levacetylleucine a game changer for Niemann pick disease type-C\".","authors":"Mobeen Abid, Shanzay Akhtar, Mirza Ahmed Baig","doi":"10.1016/j.braindev.2024.10.002","DOIUrl":"https://doi.org/10.1016/j.braindev.2024.10.002","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142513641","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gut microbiota as a potential therapeutic target for children with cerebral palsy and epilepsy.","authors":"Hui Wu, Congfu Huang, Shenghua Xiong","doi":"10.1016/j.braindev.2024.09.002","DOIUrl":"https://doi.org/10.1016/j.braindev.2024.09.002","url":null,"abstract":"<p><p>Gut microbiota (GM), the \"second genome,\" exerts influence on human health by impacting brain function through the gut-brain axis. This interaction involves various mechanisms, including immune regulation, metabolites, and neuronal pathways. The application of the next-generation sequencing technology provides a revolutionary tool for the study of GM, which contributes to a deeper comprehension of the GM-host relationship. Children with cerebral palsy (CP), a common neurological disorder in children, are more likely to develop epilepsy, which can exacerbate CP symptoms, particularly those related to cognitive impairment and gastrointestinal tract, such as constipation. The current study identified specific changes in the GM of children with CP accompanied by epilepsy. Furthermore, both diet and oral microbiota have the potential to influence the composition of the GM. Interventions with probiotics and dietary fiber based on GM can improve constipation and cognition, and this approach may be a potential therapeutic strategy.</p>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142481869","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cover","authors":"","doi":"10.1016/S0387-7604(24)00124-4","DOIUrl":"10.1016/S0387-7604(24)00124-4","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0387760424001244/pdfft?md5=0e1a04d25de716ed06544e1fae8b60a7&pid=1-s2.0-S0387760424001244-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142148137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Call for abstracts for oral and poster presentations","authors":"","doi":"10.1016/j.braindev.2024.08.004","DOIUrl":"10.1016/j.braindev.2024.08.004","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0387760424001190/pdfft?md5=fae0296b45ce6565a973a65dd20cc802&pid=1-s2.0-S0387760424001190-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142148136","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}