Translational Neuroscience最新文献

筛选
英文 中文
Translation of surface electromyography to clinical and motor rehabilitation applications: The need for new clinical figures. 表面肌电图在临床和运动康复应用中的翻译:对新的临床数字的需求。
IF 2.1 4区 医学
Translational Neuroscience Pub Date : 2023-01-01 DOI: 10.1515/tnsci-2022-0279
Roberto Merletti, Federico Temporiti, Roberto Gatti, Sanjeev Gupta, Giorgio Sandrini, Mariano Serrao
{"title":"Translation of surface electromyography to clinical and motor rehabilitation applications: The need for new clinical figures.","authors":"Roberto Merletti,&nbsp;Federico Temporiti,&nbsp;Roberto Gatti,&nbsp;Sanjeev Gupta,&nbsp;Giorgio Sandrini,&nbsp;Mariano Serrao","doi":"10.1515/tnsci-2022-0279","DOIUrl":"https://doi.org/10.1515/tnsci-2022-0279","url":null,"abstract":"<p><p>Advanced sensors/electrodes and signal processing techniques provide powerful tools to analyze surface electromyographic signals (sEMG) and their features, to decompose sEMG into the constituent motor unit action potential trains, and to identify synergies, neural muscle drive, and EEG-sEMG coherence. However, despite thousands of articles, dozens of textbooks, tutorials, consensus papers, and European and International efforts, the translation of this knowledge into clinical activities and assessment procedures has been very slow, likely because of lack of clinical studies and competent operators in the field. Understanding and using sEMG-based hardware and software tools requires a level of knowledge of signal processing and interpretation concepts that is multidisciplinary and is not provided by most academic curricula in physiotherapy, movement sciences, neurophysiology, rehabilitation, sport, and occupational medicine. The chasm existing between the available knowledge and its clinical applications in this field is discussed as well as the need for new clinical figures. The need for updating the training of physiotherapists, neurophysiology technicians, and clinical technologists is discussed as well as the required competences of trainers and trainees. Indications and examples are suggested and provide a basis for addressing the problem. Two teaching examples are provided in the Supplementary Material.</p>","PeriodicalId":23227,"journal":{"name":"Translational Neuroscience","volume":"14 1","pages":"20220279"},"PeriodicalIF":2.1,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10024349/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9210017","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}
引用次数: 2
Effects of enriched environment on the expression of β-amyloid and transport-related proteins LRP1 and RAGE in chronic sleep-deprived mice. 富集环境对慢性睡眠剥夺小鼠β-淀粉样蛋白及转运相关蛋白LRP1和RAGE表达的影响。
IF 2.1 4区 医学
Translational Neuroscience Pub Date : 2023-01-01 DOI: 10.1515/tnsci-2022-0301
Ren Yuan, Zhang Yisen, Wang Xiu, Tang Wei, Wang Wei
{"title":"Effects of enriched environment on the expression of β-amyloid and transport-related proteins LRP1 and RAGE in chronic sleep-deprived mice.","authors":"Ren Yuan,&nbsp;Zhang Yisen,&nbsp;Wang Xiu,&nbsp;Tang Wei,&nbsp;Wang Wei","doi":"10.1515/tnsci-2022-0301","DOIUrl":"https://doi.org/10.1515/tnsci-2022-0301","url":null,"abstract":"<p><p>Sleep plays an important role in the learning process and memory consolidation, and sleep deprivation (SD) leads to inadequate memory consolidation and plays an important role in brain development and plasticity. SD increases β-amyloid levels while impairing cognitive function. We explored the effect of enriched environment (EE) on β-amyloid and transporter protein LRP1 and receptor for advanced glycosylation end-products (RAGE) expression in chronic sleep deprived mice. We randomly divided mice into four groups (<i>n</i> = 10), the standard environment group (Ctrl group), the sleep deprivation group (SD group), the enriched environment intervention group (EE group), and the sleep deprivation plus environmental enrichment intervention group (SD + EE group). A modified multi-platform SD model was used to sleep deprive the mice for 19 h per day. Five hours of EE intervention was performed daily in the EE group and the SD + EE group, respectively. The behavioral measurements of mice were performed by Y-maze method and new object recognition; the expression levels of Aβ1-42, LRP1, and RAGE in prefrontal cortex and hippocampus of mice were measured by immunofluorescence; the expression levels of LRP1 and RAGE in prefrontal cortex and hippocampus were detected by Western blot. The results showed that EE could effectively ameliorate the effects of SD on cognitive impairment, reduce SD induced Aβ deposition, and decrease the expression of RAGE, while increase the expression of LRP1.</p>","PeriodicalId":23227,"journal":{"name":"Translational Neuroscience","volume":"14 1","pages":"20220301"},"PeriodicalIF":2.1,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10487385/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10212133","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}
引用次数: 0
Brain functional connectivity and network characteristics changes after vagus nerve stimulation in patients with refractory epilepsy. 难治性癫痫迷走神经刺激后脑功能连通性和网络特征的改变。
IF 2.1 4区 医学
Translational Neuroscience Pub Date : 2023-01-01 DOI: 10.1515/tnsci-2022-0308
Yongqiang Ding, Kunlin Guo, Xinjun Wang, Mingming Chen, Xinxiao Li, Yuehui Wu
{"title":"Brain functional connectivity and network characteristics changes after vagus nerve stimulation in patients with refractory epilepsy.","authors":"Yongqiang Ding,&nbsp;Kunlin Guo,&nbsp;Xinjun Wang,&nbsp;Mingming Chen,&nbsp;Xinxiao Li,&nbsp;Yuehui Wu","doi":"10.1515/tnsci-2022-0308","DOIUrl":"https://doi.org/10.1515/tnsci-2022-0308","url":null,"abstract":"<p><strong>Objective: </strong>This study aims to investigate the impact of vagus nerve stimulation (VNS) on the connectivity and small-world metrics of brain functional networks during seizure periods.</p><p><strong>Methods: </strong>Ten refractory epilepsy patients underwent video encephalographic monitoring before and after VNS treatment. The 2-min electroencephalogram segment containing the ictal was selected for each participant, resulting in a total of 20 min of seizure data. The weighted phase lag index (wPLI) and small-world metrics were calculated for the whole frequency band and different frequency bands (delta, theta, alpha, beta, and gamma). Finally, the relevant metrics were statistically analyzed, and the false discovery rate was used to correct for differences after multiple comparisons.</p><p><strong>Results: </strong>In the whole band, the wPLI was notably enhanced, and the network metrics, including degree (D), clustering coefficient (CC), and global efficiency (GE), increased, while characteristic path length (CPL) decreased (<i>P</i> < 0.01). In different frequency bands, the wPLI between the parieto-occipital and frontal regions was significantly strengthened in the delta and beta bands, while the wPLI within the frontal region and between the frontal and parieto-occipital regions were significantly reduced in the beta and gamma bands (<i>P</i> < 0.01). In the low-frequency band (<13 Hz), the small-world metrics demonstrated significantly increased CC, D, and GE, with a significantly decreased CPL, indicating a more efficient network organization. In contrast, in the gamma band, the GE decreased, and the CPL increased, suggesting a shift toward less efficient network organization.</p><p><strong>Conclusion: </strong>VNS treatment can significantly change the wPLI and small-world metrics. These findings contribute to a deeper understanding of the impact of VNS therapy on brain networks and provide objective indicators for evaluating the efficacy of VNS.</p>","PeriodicalId":23227,"journal":{"name":"Translational Neuroscience","volume":"14 1","pages":"20220308"},"PeriodicalIF":2.1,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10500639/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10311466","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}
引用次数: 0
Incomplete circle of Willis as a risk factor for intraoperative ischemic events during carotid endarterectomies performed under regional anesthesia - A prospective case-series. 区域麻醉下颈动脉内膜切除术时,威利斯环不全是术中缺血性事件的危险因素-前瞻性病例系列。
IF 2.1 4区 医学
Translational Neuroscience Pub Date : 2023-01-01 DOI: 10.1515/tnsci-2022-0293
Zoltán Gyöngyösi, Ivett Belán, Edit Nagy, Zsófia Fülesdi, Orsolya Farkas, Tamás Végh, Arjan Willem Hoksbergen, Béla Fülesdi
{"title":"Incomplete circle of Willis as a risk factor for intraoperative ischemic events during carotid endarterectomies performed under regional anesthesia - A prospective case-series.","authors":"Zoltán Gyöngyösi,&nbsp;Ivett Belán,&nbsp;Edit Nagy,&nbsp;Zsófia Fülesdi,&nbsp;Orsolya Farkas,&nbsp;Tamás Végh,&nbsp;Arjan Willem Hoksbergen,&nbsp;Béla Fülesdi","doi":"10.1515/tnsci-2022-0293","DOIUrl":"https://doi.org/10.1515/tnsci-2022-0293","url":null,"abstract":"<p><strong>Background: </strong>The role of the willisian collaterals during carotid endarterectomies (CEAs) is a debated issue. The aim of the present work was to test whether an incomplete or non-functional circle of Willis (CoW) is a risk factor for ischemic events during CEA.</p><p><strong>Patients and methods: </strong>CEAs were performed under local anesthesia. Patients were considered symptomatic (SY) if neurological signs appeared after the cross-clamping phase. In SY patients shunt insertion was performed. CoW on CT angiograms (CTa) were analyzed offline and categorized as non-functional (missing or hypoplastic collaterals) or functional collaterals by three neuroradiologists. Near-infrared spectroscopy (NIRS) was performed throughout the procedure.</p><p><strong>Results: </strong>Based on CTa, 67 incomplete circles were found, 54 were asymptomatic (ASY) and 13 were SY. No complete CoW was found among the SY patients. Significant differences could be detected between incomplete and complete circles between ASY and SY groups (Chi-square: 6.08; <i>p</i> = 0.013). The anterior communicating artery was missing or hypoplastic in 5/13 SY cases. There were no cases of the non-functional anterior communicating arteries in the ASY group (Chi-square: 32.9; <i>p</i> = 10<sup>-8</sup>). A missing or non-functional bilateral posterior communicating artery was observed in 9/13 SY and in 9/81 ASY patients (Chi-square: 24.4; <i>p</i> = 10<sup>-7</sup>). NIRS had a sensitivity of 76.9% and a specificity of 74.5% in detecting neurological symptoms.</p><p><strong>Conclusions: </strong>Collateral ability of the CoW may be a risk factor for ischemic events during CEAs. Further studies should delineate whether the preoperative assessment of collateral capacity may be useful in decision-making about shunt use during CEA.</p>","PeriodicalId":23227,"journal":{"name":"Translational Neuroscience","volume":"14 1","pages":"20220293"},"PeriodicalIF":2.1,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10350890/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10213581","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}
引用次数: 0
Geniposide protected against cerebral ischemic injury through the anti-inflammatory effect via the NF-κB signaling pathway. 京尼平苷通过NF-κB信号通路抗炎保护脑缺血损伤。
IF 2.1 4区 医学
Translational Neuroscience Pub Date : 2023-01-01 DOI: 10.1515/tnsci-2022-0273
Qian Sun, Xiangjian Zhang, Jingyi Fan, Lan Zhang, Hui Ji, Jing Xue, Cong Zhang, Rong Chen, Jing Zhao, Junmin Chen, Xiaoxia Liu, Degang Song
{"title":"Geniposide protected against cerebral ischemic injury through the anti-inflammatory effect via the NF-κB signaling pathway.","authors":"Qian Sun,&nbsp;Xiangjian Zhang,&nbsp;Jingyi Fan,&nbsp;Lan Zhang,&nbsp;Hui Ji,&nbsp;Jing Xue,&nbsp;Cong Zhang,&nbsp;Rong Chen,&nbsp;Jing Zhao,&nbsp;Junmin Chen,&nbsp;Xiaoxia Liu,&nbsp;Degang Song","doi":"10.1515/tnsci-2022-0273","DOIUrl":"https://doi.org/10.1515/tnsci-2022-0273","url":null,"abstract":"<p><strong>Context: </strong>Accumulated evidence indicates that geniposide exhibits neuroprotective effects in ischemic stroke. However, the potential targets of geniposide remain unclear.</p><p><strong>Objective: </strong>We explore the potential targets of geniposide in ischemic stroke.</p><p><strong>Materials and methods: </strong>Adult male C57BL/6 mice were subjected to the middle cerebral artery occlusion (MCAO) model. Mice were randomly divided into five groups: Sham, MCAO, and geniposide-treated (i.p. twice daily for 3 days before MCAO) at doses of 25, 75, or 150 mg/kg. We first examined the neuroprotective effects of geniposide. Then, we further explored via biological information analysis and verified the underlying mechanism <i>in vivo</i> and <i>in vitro</i>.</p><p><strong>Results: </strong>In the current study, geniposide had no toxicity at concentrations of up to 150 mg/kg. Compared with the MCAO group, the 150 mg/kg group of geniposide significantly (<i>P</i> < 0.05) improved neurological deficits, brain edema (79.00 ± 0.57% vs 82.28 ± 0.53%), and infarct volume (45.10 ± 0.24% vs 54.73 ± 2.87%) at 24 h after MCAO. Biological information analysis showed that the protective effect was closely related to the inflammatory response. Geniposide suppressed interleukin-6 (IL-6) and inducible nitric oxide synthase (iNOS) expression in the brain homogenate, as measured by enzyme-linked immunosorbent assay (ELISA). Geniposide upregulated A20 and downregulated TNF receptor-associated factor-6 and nuclear factor kappa-B phosphorylation in the MCAO model and lipopolysaccharide-treated BV2 cells at 100 μM.</p><p><strong>Conclusions: </strong>Geniposide exhibited a neuroprotective effect via attenuating inflammatory response, as indicated by biological information analysis, <i>in vivo</i> and <i>in vitro</i> experiments, which may provide a potential direction for the application of geniposide in the treatment of ischemic stroke.</p>","PeriodicalId":23227,"journal":{"name":"Translational Neuroscience","volume":"14 1","pages":"20220273"},"PeriodicalIF":2.1,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10276575/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10018940","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}
引用次数: 0
Relationship between serum HIF-1α and VEGF levels and prognosis in patients with acute cerebral infarction combined with cerebral-cardiac syndrome. 急性脑梗死合并脑心综合征患者血清HIF-1α和VEGF水平与预后的关系
IF 2.1 4区 医学
Translational Neuroscience Pub Date : 2023-01-01 DOI: 10.1515/tnsci-2022-0295
Qing Chang, Hongna Liu, Ermiao Zhang, Qian Xue, Aixia Song
{"title":"Relationship between serum HIF-1α and VEGF levels and prognosis in patients with acute cerebral infarction combined with cerebral-cardiac syndrome.","authors":"Qing Chang,&nbsp;Hongna Liu,&nbsp;Ermiao Zhang,&nbsp;Qian Xue,&nbsp;Aixia Song","doi":"10.1515/tnsci-2022-0295","DOIUrl":"https://doi.org/10.1515/tnsci-2022-0295","url":null,"abstract":"<p><strong>Objective: </strong>This research was conducted to discuss the recent prognosis of patients with acute cerebral infarction (ACI) combined with cerebral-cardiac syndrome (CCS).</p><p><strong>Method: </strong>Eighty-seven patients with ACI were selected, which were divided into the ACI group (52 patients) and the CCS group (35 patients) according to whether the CCS was combined, and another 30 health controls were selected as the control group. Serum hypoxia-inducible factor (HIF)-1α and vascular endothelial growth factor (VEGF) levels of subjects in each group at the 1st day, the 3rd day, and the 7th day after admission were measured by enzyme-linked immunosorbent assay. After discharge for 30 days, the National Institutes of Health Stroke Scale (NIHSS) and the modified Rankin Scale (mRS) score were utilized to evaluate the prognosis of patients. The role of serum HIF-1α and VEGF levels in the prognosis of ACI combined with CCS patients was assessed by receiver operating characteristic curve and the binary logistic regression analysis.</p><p><strong>Results: </strong>Higher serum HIF-1α and VEGF levels were observed in the CCS and ACI groups versus the control group, and the levels of which were even higher in the CCS group in comparison to the ACI group. According to the prognosis of the NIHSS score, fasting blood glucose (FBG), Acute Physiology and Chronic Health Evaluation II score, creatine kinase-MB (CK-MB), and HIF-1α and VEGF levels at the 7th day of admission were higher while Glasgow coma scale (GCS) score was lower in the poor prognosis group than those in the good prognosis group, and the area under the curve (AUC) of serum HIF-1α and VEGF levels was 0.895 (95% confident interval [CI], 0.786-1.000), and 0.855 (95% CI, 0.731-0.980). According to the prognosis of the mRS score, FBG, CK-MB, and HIF-1α and VEGF levels at the 7th day of admission were higher while GCS score was lower in the poor prognosis group than those in the good prognosis group, and the AUC of serum HIF-1α and VEGF levels was 0.850 (95% CI, 0.722-0.979) and 0.901 (95% CI, 0.798-1.000). The results of the binary logistic regression analysis revealed that HIF-1α and VEGF levels may be independent risk factors influencing the prognosis of ACI combined with CCS.</p><p><strong>Conclusion: </strong>Serum HIF-1α and VEGF have a good predictive value for assessing the recent prognosis of patients with ACI combined with CCS, which could be independent risk factors influencing the prognosis of disease.</p>","PeriodicalId":23227,"journal":{"name":"Translational Neuroscience","volume":"14 1","pages":"20220295"},"PeriodicalIF":2.1,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10436777/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10048060","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}
引用次数: 0
Arterial spin labeling for moyamoya angiopathy: A preoperative and postoperative evaluation method. 烟雾病的动脉自旋标记:一种术前和术后评价方法。
IF 2.1 4区 医学
Translational Neuroscience Pub Date : 2023-01-01 DOI: 10.1515/tnsci-2022-0288
Sun Yuxue, Wang Yan, Xue Bingqian, Liang Hao, Li Chaoyue
{"title":"Arterial spin labeling for moyamoya angiopathy: A preoperative and postoperative evaluation method.","authors":"Sun Yuxue,&nbsp;Wang Yan,&nbsp;Xue Bingqian,&nbsp;Liang Hao,&nbsp;Li Chaoyue","doi":"10.1515/tnsci-2022-0288","DOIUrl":"https://doi.org/10.1515/tnsci-2022-0288","url":null,"abstract":"<p><strong>Objectives: </strong>Studies have shown that arterial spin labeling (ASL) effectively replaces traditional MRI perfusion imaging for detecting cerebral blood flow (CBF) in patients with Moyamoya angiopathy (MMA). However, there are few reports on the relationship between neovascularization and cerebral perfusion in patients with MMA. The aim of this study is to investigate the effects of neovascularization on cerebral perfusion with MMA after bypass surgery.</p><p><strong>Methods: </strong>We selected patients with MMA in the Department of Neurosurgery between September 2019 and August 2021 and enrolled them based on the inclusion and exclusion criteria. ASL imaging was used to monitor the baseline CBF level before surgery and determine the changes in cerebral vessels at postoperative 1 week and 6 months, respectively. The Alberta stroke grade, modified Rankin Scale (mRS), and digital subtraction angiography images were used to evaluate the effect of postoperative CBF status and prognosis. Ninety hemispheres from 51 patients were included in this study. There were no significant differences in the baseline data of the enrolled patients. At 1 week and 6 months post-surgery, the CBF state in the operation area was significantly changed compared with that at baseline (<i>P</i> < 0.05). The preoperative Alberta score (<i>t</i> = 2.714, <i>P</i> = 0.013) and preoperative mRS score (<i>t</i> = 6.678, <i>P</i> < 0.001) correlated with postoperative neovascularization.</p><p><strong>Conclusion: </strong>ASL is an effective method for detecting CBF and plays an important role in the long-term follow-up of patients with MMA. Combined cerebral revascularization significantly improves CBF in the operation area both in the short and long terms. Patients with lower preoperative Alberta scores and higher mRS scores were more likely to benefit from combined cerebral revascularization surgery. However, regardless of the type of patient, CBF reconstruction can effectively improve prognosis.</p>","PeriodicalId":23227,"journal":{"name":"Translational Neuroscience","volume":"14 1","pages":"20220288"},"PeriodicalIF":2.1,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10251162/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9974805","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}
引用次数: 0
Deletion as novel variants in VPS13B gene in Cohen syndrome: Case series. 科恩综合征中VPS13B基因缺失作为新变体:病例系列。
IF 2.1 4区 医学
Translational Neuroscience Pub Date : 2023-01-01 DOI: 10.1515/tnsci-2022-0304
Li Kang, Yixuan Ma, Peng Zhao
{"title":"Deletion as novel variants in VPS13B gene in Cohen syndrome: Case series.","authors":"Li Kang,&nbsp;Yixuan Ma,&nbsp;Peng Zhao","doi":"10.1515/tnsci-2022-0304","DOIUrl":"https://doi.org/10.1515/tnsci-2022-0304","url":null,"abstract":"<p><strong>Background: </strong>Cohen syndrome (OMIM No. # 216550) is a rare autosomal recessive disorder caused by homozygous mutation in the vacuolar protein sorting 13 homolog B (<i>VPS13B</i>) gene on chromosome 8q22.2. Clinical manifestations include hypermobile joints, microcephaly, intellectual disabilities, craniofacial and limb anomalies, and neutropenia. To date, more than 200 mutations of <i>VPS13B</i> have been reported in over 1,000 Cohen syndrome patients. This article reviews the clinical data of two cases of Cohen syndrome diagnosed by whole exome sequencing.</p><p><strong>Results: </strong>Both children visited for psychomotor retardation. Gene detection showed a mutation in 8q22.2, NM_017890.4 Intron38 c.6940+1G > T and heterozygotic deletion of exon 3-19 of the <i>VPS13B</i> gene (Case 1), and a mutation in 8q22.2, NM_017890.4 Intron38 c.6940+1G > T and 8q22, NM_017890.4 Exon56 c10334_10335del in the <i>VPS13B</i> gene (Case 2). The variation was predicted to be pathogenic by related software, and they have not been reported.</p><p><strong>Conclusion: </strong>Cohen syndrome should be considered in the differential diagnosis of any child with developmental retardation and neutropenia. The present study increases the mutation spectrum of the <i>VPS13B</i> gene and could be helpful in genetic diagnosis and genetic counseling in Cohen syndrome patients.</p>","PeriodicalId":23227,"journal":{"name":"Translational Neuroscience","volume":"14 1","pages":"20220304"},"PeriodicalIF":2.1,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10487392/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10212134","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}
引用次数: 0
Comprehensive behavioral study of C57BL/6.KOR-ApoEshl mice. C57BL/6的综合行为学研究KOR-ApoEshl老鼠。
IF 2.1 4区 医学
Translational Neuroscience Pub Date : 2023-01-01 DOI: 10.1515/tnsci-2022-0284
Hiroshi Ueno, Yu Takahashi, Shinji Murakami, Kenta Wani, Tetsuji Miyazaki, Yosuke Matsumoto, Motoi Okamoto, Takeshi Ishihara
{"title":"Comprehensive behavioral study of C57BL/6.KOR-ApoE<sup>shl</sup> mice.","authors":"Hiroshi Ueno,&nbsp;Yu Takahashi,&nbsp;Shinji Murakami,&nbsp;Kenta Wani,&nbsp;Tetsuji Miyazaki,&nbsp;Yosuke Matsumoto,&nbsp;Motoi Okamoto,&nbsp;Takeshi Ishihara","doi":"10.1515/tnsci-2022-0284","DOIUrl":"https://doi.org/10.1515/tnsci-2022-0284","url":null,"abstract":"<p><strong>Background: </strong>Apolipoprotein E (ApoE) is associated with Alzheimer's disease (AD) and cognitive dysfunction in elderly individuals. There have been extensive studies on behavioral abnormalities in ApoE-deficient (Apoe<sup>shl</sup>) mice, which have been described as AD mouse models. Spontaneously hyperlipidemic mice were discovered in 1999 as ApoE-deficient mice due to ApoE gene mutations. However, behavioral abnormalities in commercially available Apoe<sup>shl</sup> mice remain unclear. Accordingly, we aimed to investigate the behavioral abnormalities of Apoe<sup>shl</sup> mice.</p><p><strong>Results: </strong>Apoe<sup>shl</sup> mice showed decreased motor skill learning and increased anxiety-like behavior toward heights. Apoe<sup>shl</sup> mice did not show abnormal behavior in the Y-maze test, open-field test, light/dark transition test, and passive avoidance test.</p><p><strong>Conclusion: </strong>Our findings suggest the utility of Apoe<sup>shl</sup> mice in investigating the function of ApoE in the central nervous system.</p>","PeriodicalId":23227,"journal":{"name":"Translational Neuroscience","volume":"14 1","pages":"20220284"},"PeriodicalIF":2.1,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10314129/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9735968","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}
引用次数: 0
miR-101-3p improves neuronal morphology and attenuates neuronal apoptosis in ischemic stroke in young mice by downregulating HDAC9. miR-101-3p通过下调hdac - 9,改善缺血性脑卒中幼鼠神经元形态,减轻神经元凋亡。
IF 2.1 4区 医学
Translational Neuroscience Pub Date : 2023-01-01 DOI: 10.1515/tnsci-2022-0286
Mengru Zhang, Jianjun Wang, Jinfang Li, Fanxin Kong, Songjun Lin
{"title":"miR-101-3p improves neuronal morphology and attenuates neuronal apoptosis in ischemic stroke in young mice by downregulating HDAC9.","authors":"Mengru Zhang,&nbsp;Jianjun Wang,&nbsp;Jinfang Li,&nbsp;Fanxin Kong,&nbsp;Songjun Lin","doi":"10.1515/tnsci-2022-0286","DOIUrl":"https://doi.org/10.1515/tnsci-2022-0286","url":null,"abstract":"<p><strong>Objective: </strong>MiRNAs play a key role in ischemic stroke (IS). Although miR-101-3p can participate in multiple disease processes, its role and mechanism in IS are not clear. The aim of the present study was to observe the effect of miR-101-3p activation on IS in young mice and the role of HDAC9 in this effect.</p><p><strong>Methods: </strong>The young mice were first subjected to transient middle cerebral artery occlusion (tMCAO) or sham surgery, and the cerebral infarct area was assessed with 2,3,5-triphenyltetrazolium chloride staining. Meanwhile, the expressions of miR-101-3p and HDAC9 were tested using RT-qPCR or western blot. Besides, neuron morphology and apoptosis were confirmed using Nissl staining and TUNEL staining.</p><p><strong>Results: </strong>We first verified that miR-101-3p was downregulated and HDAC9 was upregulated in the brain tissue of tMCAO young mice. Moreover, we proved that overexpression of miR-101-3p could improve cerebral infarction, neuronal morphology, and neuronal apoptosis in tMCAO young mice by lowering the expression of HDAC9.</p><p><strong>Conclusions: </strong>Activation of miR-101-3p can protect against IS in young mice, and its mechanism is relevant to the inhibition of HDAC9. Therefore, miR-101-3p and HDAC9 might be the latent targets for IS therapy.</p>","PeriodicalId":23227,"journal":{"name":"Translational Neuroscience","volume":"14 1","pages":"20220286"},"PeriodicalIF":2.1,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10224617/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9549462","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}
引用次数: 2
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信