Brain & Development最新文献

{"title":"Cover","authors":"","doi":"10.1016/S0387-7604(24)00036-6","DOIUrl":"https://doi.org/10.1016/S0387-7604(24)00036-6","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 4","pages":"Page IBC"},"PeriodicalIF":1.7,"publicationDate":"2024-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0387760424000366/pdfft?md5=5cf6b3ee789ecd327213d8a9b32bb017&pid=1-s2.0-S0387760424000366-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140041956","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":"The muscle regeneration marker FOXP3 is associated with muscle injury in Duchenne muscular dystrophy","authors":"Sthephanie Yannin Hernández-de la Cruz ,&nbsp;Thania Ordaz-Robles (Methodology, Data curation, Validation, Writing – review & editing) ,&nbsp;Marco Antonio Villaldama-Soriano ,&nbsp;Cristian Emmanuel Luna-Guzmán ,&nbsp;Tomas Almeida-Becerril ,&nbsp;Judith Villa-Morales ,&nbsp;Alan Cárdenas-Conejo ,&nbsp;Eugenia Dolores Ruíz-Cruz ,&nbsp;Jorge Maldonado-Hernandez ,&nbsp;Mariela Bernabe-Garcia ,&nbsp;Lourdes Barbosa-Cortés ,&nbsp;Maricela Rodríguez-Cruz","doi":"10.1016/j.braindev.2024.02.001","DOIUrl":"10.1016/j.braindev.2024.02.001","url":null,"abstract":"<div><h3>Background</h3><p>In Duchenne muscular dystrophy (DMD), the immune system cells (ISC) synthesize molecules to regulate inflammation, a process needed to regenerate muscle. The relationship between those molecules and the muscle injury is unknown. Monocytes belonging to ISC are regulated by omega-3 fatty acids (ω-3 LCPUFAs) in DMD, but whether those fatty acids influence other ISC like T-cells is unknown.</p></div><div><h3>Objective</h3><p>We analyzed the expression of the muscle regeneration markers (<em>FOXP3</em> and <em>AREG</em>) in circulating leukocytes of DMD patients with different lower limb muscle functions and whether ω-3 LCPUFAs regulate the expression of those markers, and the populations of circulating T-cells, their intracellular cytokines, and disease progression (CD69 and CD49d) markers.</p></div><div><h3>Methods</h3><p>This placebo-controlled, double-blind, randomized study was conducted in DMD boys supplemented with ω-3 LCPUFAs (<em>n</em> = 18) or placebo (sunflower oil, <em>n</em> = 13) for six months. <em>FOXP3</em> and <em>AREG</em> mRNA expression in leukocytes, immunophenotyping of T-cell populations, CD49d and CD69 markers, and intracellular cytokines in blood samples were analyzed at baseline and months 1, 2, 3, and 6 of supplementation.</p></div><div><h3>Results</h3><p>Patients with assisted ambulation expressed higher (<em>P =</em> 0.015) <em>FOXP3</em> mRNA levels than ambulatory patients. The <em>FOXP3</em> mRNA expression correlated (<em>Rho</em> = -0.526, <em>P</em> = 0.03) with the Vignos scale score at month six of supplementation with ω-3 LCPUFAs. CD49d + CD8 + T-cells population was lower (<em>P =</em> 0.037) in the ω −3 LCPUFAs group than placebo at month six of supplementation.</p></div><div><h3>Conclusion</h3><p><em>FOXP3</em> is highly expressed in circulating leukocytes of DMD patients with the worst muscle function. Omega-3 LCPUFAs might modulate the synthesis of the adhesion marker CD49d + CD8 + T-cells, but their plausible impact on <em>FOXP3</em> needs more research.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 5","pages":"Pages 199-206"},"PeriodicalIF":1.7,"publicationDate":"2024-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139934470","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":"Acknowledgments to Anonymous Reviewers in 2023","authors":"","doi":"10.1016/S0387-7604(24)00011-1","DOIUrl":"https://doi.org/10.1016/S0387-7604(24)00011-1","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 3","pages":"Pages I-II"},"PeriodicalIF":1.7,"publicationDate":"2024-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0387760424000111/pdfft?md5=a425de4811acebb131f238882528c89a&pid=1-s2.0-S0387760424000111-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139749721","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":"Cover","authors":"","doi":"10.1016/S0387-7604(24)00012-3","DOIUrl":"https://doi.org/10.1016/S0387-7604(24)00012-3","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 3","pages":"Page IBC"},"PeriodicalIF":1.7,"publicationDate":"2024-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0387760424000123/pdfft?md5=6aa291008e6ec825068ab25df731d6ac&pid=1-s2.0-S0387760424000123-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139748285","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":"‘Reading the palm’ – A pilot study of grip and finger flexion strength as an outcome measure in 5q spinal muscular atrophy","authors":"Constanze Weber ,&nbsp;Anne Müller ,&nbsp;Maren Freigang ,&nbsp;Maja von der Hagen ,&nbsp;René Günther","doi":"10.1016/j.braindev.2024.01.001","DOIUrl":"10.1016/j.braindev.2024.01.001","url":null,"abstract":"<div><h3>Background</h3><p><span>Innovative RNA modifying and gene replacement therapies are currently revolutionizing the therapeutic landscape in 5q-associated </span>spinal muscular atrophy<span> (SMA). In order to provide individual recommendations for choice of treatment and therapy (dis-) continuation, objective outcome measures are needed. The purpose of this study was to determine whether maximum isometric voluntary grip and finger flexion strength is a useful sensitive outcome measure in children and adult patients with SMA.</span></p></div><div><h3>Methods</h3><p>In this non-interventional, longitudinal pilot study, we assessed grip and finger flexion strength on 39 patients with SMA II and III (n = 16 children, mean age = 10.0; n = 23 adults, mean age = 38.4) using the Weber hand and finger dynamometer HFD 200. Grip and finger flexion strength, clinical examinations and motor function scores (Revised Upper Limb Module, Hammersmith Functional Motor Scale Expanded) were assessed over a 12-month treatment period concurrent with the nusinersen treatment.</p></div><div><h3>Results</h3><p>Grip and finger flexion strength was highly associated with motor function and disease severity, SMA type and <em>SMN2</em><span> copy number. During nusinersen treatment, grip and finger flexion strength significantly increased in children and adults with SMA.</span></p></div><div><h3>Conclusion</h3><p>Grip and finger flexion strength measured with the HFD 200 is a promising sensitive outcome measure for SMA.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 5","pages":"Pages 189-198"},"PeriodicalIF":1.7,"publicationDate":"2024-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139708674","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":"Key considerations for the diagnosis of Guillain-Barré syndrome in pediatric populations","authors":"Tejas C. Sekhar","doi":"10.1016/j.braindev.2024.01.002","DOIUrl":"10.1016/j.braindev.2024.01.002","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 4","pages":"Page 187"},"PeriodicalIF":1.7,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139662326","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":"Exploration of urine metabolic biomarkers for new-onset, untreated pediatric epilepsy: A gas and liquid chromatography mass spectrometry-based metabolomics study","authors":"Tomoyuki Akiyama ,&nbsp;Daisuke Saigusa ,&nbsp;Takushi Inoue ,&nbsp;Chiho Tokorodani ,&nbsp;Mari Akiyama ,&nbsp;Rie Michiue ,&nbsp;Atsushi Mori ,&nbsp;Eiji Hishinuma ,&nbsp;Naomi Matsukawa ,&nbsp;Takashi Shibata ,&nbsp;Hiroki Tsuchiya ,&nbsp;Katsuhiro Kobayashi","doi":"10.1016/j.braindev.2023.12.004","DOIUrl":"10.1016/j.braindev.2023.12.004","url":null,"abstract":"<div><h3>Objective</h3><p><span>The discovery of objective indicators for recent epileptic seizures will help confirm the diagnosis of epilepsy and evaluate therapeutic effects. Past studies had shortcomings such as the inclusion of patients under </span>treatment<span><span> and those with various etiologies that could confound the analysis results significantly. We aimed to minimize such confounding effects and to explore the small molecule biomarkers associated with the recent occurrence of epileptic seizures using urine </span>metabolomics.</span></p></div><div><h3>Methods</h3><p>This is a multicenter prospective study. Subjects included pediatric patients aged 2 to 12 years old with new-onset, untreated epilepsy, who had had the last seizure within 1 month before urine collection. Controls included healthy children aged 2 to 12 years old. Those with underlying or chronic diseases, acute illnesses, or recent administration of medications or supplements were excluded. Targeted metabolome<span> analysis of spot urine samples was conducted using gas chromatography<span> (GC)- and liquid chromatography (LC)-tandem mass spectrometry (MS/MS).</span></span></p></div><div><h3>Results</h3><p>We enrolled 17 patients and 21 controls. Among 172 metabolites measured by GC/MS/MS and 41 metabolites measured by LC/MS/MS, only taurine was consistently reduced in the epilepsy group. This finding was subsequently confirmed by the absolute quantification of amino acids. No other metabolites were consistently altered between the two groups.</p></div><div><h3>Conclusions</h3><p>Urine metabolome analysis, which covers a larger number of metabolites than conventional biochemistry analyses, found no consistently altered small molecule metabolites except for reduced taurine in epilepsy patients compared to healthy controls. Further studies with larger samples, subjects with different ages, expanded target metabolites, and the investigation of plasma samples are required.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 4","pages":"Pages 180-186"},"PeriodicalIF":1.7,"publicationDate":"2024-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139089530","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(23)00207-3","DOIUrl":"10.1016/S0387-7604(23)00207-3","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 2","pages":"Page IBC"},"PeriodicalIF":1.7,"publicationDate":"2023-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0387760423002073/pdfft?md5=26ee7af9170becdf3f6cb96786f43459&pid=1-s2.0-S0387760423002073-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139063005","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":"A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies","authors":"Sareh Hosseinpour ,&nbsp;Ehsan Razmara ,&nbsp;Morteza Heidari ,&nbsp;Zahra Rezaei ,&nbsp;Mahmoud Reza Ashrafi ,&nbsp;Ali Zare Dehnavi ,&nbsp;Reyhaneh Kameli ,&nbsp;Ali Hosseini Bereshneh ,&nbsp;Hassan Vahidnezhad ,&nbsp;Reza Azizimalamiri ,&nbsp;Zahra Zamani ,&nbsp;Neda Pak ,&nbsp;Maryam Rasulinezhad ,&nbsp;Bahram Mohammadi ,&nbsp;Homa Ghabeli ,&nbsp;Mohammad Ghafouri ,&nbsp;Mahmoud Mohammadi ,&nbsp;Gholam Reza Zamani ,&nbsp;Reza Shervin Badv ,&nbsp;Sasan Saket ,&nbsp;Ali Reza Tavasoli","doi":"10.1016/j.braindev.2023.12.003","DOIUrl":"10.1016/j.braindev.2023.12.003","url":null,"abstract":"<div><h3>Objective</h3><p><span>Mitochondrial leukodystrophies (MLs) are mainly caused by impairments of the mitochondrial </span>respiratory chains<span>. This study reports the mutation and phenotypic spectrum of a cohort of 41 pediatric<span> patients from 39 distinct families with MLs among 320 patients with a molecular diagnosis<span> of leukodystrophies.</span></span></span></p></div><div><h3>Methods</h3><p>This study summarizes the clinical, imaging, and molecular data of these patients for five years.</p></div><div><h3>Results</h3><p><span>The three most common symptoms<span><span><span><span> were neurologic regression (58.5%), pyramidal signs (58.5%), and </span>extrapyramidal signs (43.9%). Because nuclear </span>DNA mutations<span> are responsible for a high percentage of pediatric MLs, whole exome sequencing<span> was performed on all patients. In total, 39 homozygous variants were detected. Additionally, two previously reported mtDNA variants were identified with different levels of heteroplasmy in two patients. Among 41 mutant alleles, 33 (80.4%) were missense, 4 (9.8%) were frameshift (including 3 deletions and one duplication), and 4 (9.8%) were splicing mutations. </span></span></span>Oxidative phosphorylation in 27 cases (65.8%) and mtDNA maintenance pathways in 8 patients (19.5%) were the most commonly affected mitochondrial pathways. In total, 5 novel variants in </span></span><em>PDSS1, NDUFB9, FXBL4, SURF1</em>, and <em>NDUSF1</em><span> were also detected. In silico analyses showed how each novel variant may contribute to ML pathogenesis.</span></p></div><div><h3>Conclusions</h3><p><span><span>The findings of this study suggest whole-exome sequencing as a strong diagnostic genetic tool to identify the causative variants in pediatric MLs. In comparison between oxidative phosphorylation (OXPHOS) and mtDNA maintenance groups, brain stem and </span>periaqueductal gray matter (PAGM) involvement were more commonly seen in OXPHOS group (P value of 0.002 and 0.009, respectively), and thinning of </span>corpus callosum was observed more frequently in mtDNA maintenance group (P value of 0.042).</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 4","pages":"Pages 167-179"},"PeriodicalIF":1.7,"publicationDate":"2023-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138823742","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":"Risk factors for post-encephalopathic epilepsy in patients with acute encephalopathy with biphasic seizures and late reduced diffusion","authors":"Makoto Nishioka ,&nbsp;Mitsuo Motobayashi ,&nbsp;Tetsuhiro Fukuyama ,&nbsp;Yuji Inaba","doi":"10.1016/j.braindev.2023.12.002","DOIUrl":"10.1016/j.braindev.2023.12.002","url":null,"abstract":"<div><h3>Background</h3><p><span>Post-encephalopathic epilepsy (PEE) is a serious complication of acute encephalopathy syndromes, and is more frequent </span>in patients<span> with acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) than in children with acute encephalopathy. However, a risk factor analysis using laboratory findings in the acute phase of AESD has not yet been performed. Therefore, the present study examined risk factors of AESD-related PEE using laboratory parameters in the acute phase of AESD.</span></p></div><div><h3>Methods</h3><p>We retrospectively screened 27 pediatric patients with AESD for inclusion, and enrolled 20 (“the PEE group”, n = 6; “the non-PEE group”, n = 14) according to inclusion criteria.</p></div><div><h3>Results</h3><p><span><span><span><span>The incidence of AESD-related PEE was 30 %, and the median duration from the onset of AESD to the development of PEE was 2.5 months (range, 1–32). The most common types of seizures were focal seizures, </span>epileptic spasms, and startle seizures: 4 out of 6 patients (66.7 %) had </span>intractable epilepsy. The median values of </span>alanine aminotransferase (ALT) in the 1st and 2nd seizure phases of AESD and aspartate aminotransferase (AST) in the 2nd seizure phase were significantly higher in the PEE group than in the non-PEE group (</span><em>p</em> &lt; 0.01).</p></div><div><h3>Conclusions</h3><p>This is the first study to report higher serum levels of ALT and AST at the onset of AESD as risk factors for AESD-related PEE. We also provided a detailed description on the clinical characteristics on AESD-related PEE, which are consistent with previous findings.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 4","pages":"Pages 161-166"},"PeriodicalIF":1.7,"publicationDate":"2023-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138818740","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}