Brain & Development最新文献

{"title":"A female case of L1 syndrome that may have developed due to skewed X inactivation","authors":"Tatsuo Mori ,&nbsp;Mutsuki Nakano ,&nbsp;Takahiro Tayama ,&nbsp;Aya Goji ,&nbsp;Yoshihiro Toda ,&nbsp;Shinichi Kameyama ,&nbsp;Takeshi Mizuguchi ,&nbsp;Maki Urushihara ,&nbsp;Naomichi Matsumoto","doi":"10.1016/j.braindev.2024.03.001","DOIUrl":"10.1016/j.braindev.2024.03.001","url":null,"abstract":"<div><h3>Background</h3><p>Heterozygous <em>L1CAM</em> variants cause L1 syndrome with hydrocephalus and aplasia/hypoplasia of the corpus callosum. L1 syndrome usually has an X-linked recessive inheritance pattern; however, we report a rare case occurring in a female child.</p></div><div><h3>Case presentation</h3><p>The patient’s family history was unremarkable. Fetal ultrasonography revealed enlarged bilateral ventricles of the brain and hypoplasia of the corpus callosum. The patient was born at 38 weeks and 4 days of gestation. Brain MRI performed on the 8th day of life revealed enlargement of the brain ventricles, marked in the lateral and third ventricles with irregular margins, and hypoplasia of the corpus callosum. Exome sequencing at the age of 2 years and 3 months revealed a de novo heterozygous <em>L1CAM</em> variant (NM_000425.5: c.2934_2935delp. (His978Glnfs * 25). X-chromosome inactivation using the human androgen receptor assay revealed that the pattern of X-chromosome inactivation in the patients was highly skewed (96.6 %). The patient is now 4 years and 11 months old and has a mild developmental delay (developmental quotient, 56) without significant progression of hydrocephalus.</p></div><div><h3>Conclusion</h3><p>In this case, we hypothesized that the dominant expression of the variant allele arising from skewed X inactivation likely caused L1 syndrome. Symptomatic female carriers may challenge the current policies of prenatal and preimplantation diagnoses.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140121454","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 efficacy of intrathecal cyclodextrin in patients with Niemann-Pick disease type C","authors":"Muneaki Matsuo ,&nbsp;Takafumi Sakakibara ,&nbsp;Yoshio Sakiyama ,&nbsp;Tetsumin So ,&nbsp;Motomichi Kosuga ,&nbsp;Toshihiko Kakiuchi ,&nbsp;Fumio Ichinose ,&nbsp;Takuji Nakamura ,&nbsp;Yoichi Ishitsuka ,&nbsp;Tetsumi Irie","doi":"10.1016/j.braindev.2024.03.002","DOIUrl":"10.1016/j.braindev.2024.03.002","url":null,"abstract":"<div><h3>Background and objectives</h3><p>Niemann–Pick type C (NPC) is a rare lysosomal storage disease characterized by hepatosplenomegaly and progressive neurological deterioration due to abnormal intracellular cholesterol transport. Cyclic oligosaccharide 2-hydroxypropyl-β-cyclodextrin (HPBCD) is an effective treatment for NPC; however, few reports have shown its long-term efficacy and safety. To demonstrate long-term efficacy and safety of intrathecal HPBCD (IT-HPBCD) treatment for NPC, we herein reports five patients with NPC treated using IT-HPBCD for 4–11 years.</p></div><div><h3>Cases and results</h3><p>Patients’ ages at the onset ranged from 1.5 to 20 years. Notably, all patients showed rapid disease progression despite treatment with miglustat before IT-HPBCD treatment. Similarly, some patients showed transient improvement; however, all patients’ conditions stabilized after long-term IT-HPBCD therapy. Mild-to-moderate hearing loss was observed in three patients. Furthermore, long-term treatment with IT-HPBCD may suppress neurological deterioration in patients with NPC; however, patients still experience some disease progression.</p></div><div><h3>Conclusions</h3><p>Long-term treatment with IT-HPBCD may suppress neurological deterioration in patients with NPC; however, the treatment outcome is dependent on the neurological status at the time of diagnosis, and disease progression is not completely inhibited. Awareness of the disease and newborn screening is needed for earlier disease detection. In addition, further optimization of the treatment protocol and additional treatments are needed to improve patient outcomes.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S038776042400041X/pdfft?md5=8e5bad62db3da27a2ad5f8a9e372a2f5&pid=1-s2.0-S038776042400041X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140051146","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)00036-6","DOIUrl":"https://doi.org/10.1016/S0387-7604(24)00036-6","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"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":null,"pages":null},"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":null,"pages":null},"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":null,"pages":null},"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":null,"pages":null},"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":null,"pages":null},"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":null,"pages":null},"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":null,"pages":null},"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}