Annals of Neurosciences最新文献

{"title":"Lymphomatosis Cerebri: A diagnostic dilemma","authors":"Sibgha Khan, Fatima Mubarak, Khurram Minhas, Dureshahwar Kanwar, Robert Chun Chen","doi":"10.1177/09727531231203461","DOIUrl":"https://doi.org/10.1177/09727531231203461","url":null,"abstract":"Background Lymphomatosis cerebri (LC) is a rare manifestation of primary central nervous system lymphoma (PCNSL) with only a few cases reported in the literature, appearing as diffuse infiltrating process rather than a solitary mass. It is a non-Hodgkin’s type of lymphoma and is usually of the B-cell type origin. Purpose We intend to report this unique case of LC which came across as a diagnostic challenge. Methods A 53-year-old gentleman presented with complaints of two episodes of seizures 24 h apart followed by postictal confusion for 10–15 min. He underwent multiple MRI scans and underwent a biopsy of the lesion which reported infection, but he did not benefit from the treatment. Result The imaging was reviewed, suspicion of LC was raised and a review of histopathology was requested which later confirmed primary CNS lymphoma. Conclusion LC is a rare but established manifestation of PCNSL which mimics multiple other conditions. Understanding of the imaging pattern is important in making the diagnosis and differentiating it from other mimic conditions.","PeriodicalId":7921,"journal":{"name":"Annals of Neurosciences","volume":"187 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135778286","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Is Training Working Memory in Children with Learning Disabilities a Viable Solution? A Systematic Review","authors":"Priya Srikanth Rao, Manoj K. Pandey, Prabha Mishra, Seema Deshmukh, Masroor Jahan, Shivananda Manohar J","doi":"10.1177/09727531231198639","DOIUrl":"https://doi.org/10.1177/09727531231198639","url":null,"abstract":"Background Working memory (WM) is one of the most influential cognitive functions in encoding, registering, and retrieving information. It influences the learning process in children. Its role becomes essential, especially in a child with a learning disability (LD). Researchers worldwide are giving much prominence to WM, especially in devising cognitive retraining strategies for better cognitive functioning and academic attainment in these children. This current study aims to explore globally used instruments to measure this construct and review effective WM training models in the cognitive rehabilitation of children with LD. This study used a systematic review, availing the elaborate “Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA)” guidelines. Summary The databases of Google Scholar, PubMed, and Web of Science were searched thoroughly, and those studies, which met the inclusion criteria, were considered for this review. Out of 770 studies found with keywords, only six met the inclusion criteria and were selected for a detailed analysis. The outcome of the current review provides trustworthy evidence of poor performance, especially in tasks involving verbal and executive WM in children with all types of learning disabilities (LD) and difficulties. The studies reviewed support the hypothesis that WM can improve with training and significantly improve children’s academic attainment. Key Message Further this review recommends that research and efforts must go into devising these cognitive training techniques. Children have high cerebral plasticity; hence, using cognitive training (emphasizing WM training and other cognitive functions) with them would enhance their cognitive functioning and capacity, improving their academic performance.","PeriodicalId":7921,"journal":{"name":"Annals of Neurosciences","volume":"42 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135854773","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multiomics Approach Reveal Novel Insights in FUS Driven Juvenile Amyotrophic Lateral Sclerosis: A Family Quartet Analysis","authors":"Sagar Verma, Shiffali Khurana, Mandaville Gourie-Devi, Ish Anand, Yuvraj Vats, Arpita Singh, Manivannan Jothiramajayam, Pallavi Kshetrapal, Ankkita Sharma, Saima Wajid, Nirmal Kumar Ganguly, Pradip Chakraborti, Vibha Taneja","doi":"10.1177/09727531231194399","DOIUrl":"https://doi.org/10.1177/09727531231194399","url":null,"abstract":"Background Juvenile amyotrophic lateral sclerosis (JALS) is a rare and severe form of motor neuron disease characterized by progressive loss of upper and lower motor neurons with an early onset (<25 years). Purpose Due to complex etiology and clinical heterogeneity, it is indispensable to unravel molecular mechanisms underlying JALS pathology. The study aimed to identify disease-specific signatures in a 14-years-old sporadic JALS patient. Methods Genomic, transcriptomic, and metabolomic analysis of proband and first-degree relatives (FDR). Results Exome sequencing identified a novel de novo frameshift variation (c.1465dupG: p.D490Gfs*26) in the fused in sarcoma (FUS) gene in proband. Interestingly, rare and potentially deleterious, disease-modifying variations in DDHD domain containing 1 (DDHD1) and fibrillin 2 (FBN2) were observed. Differentially expressed genes (DGEs) enriched in neuromuscular transmission and inflammatory response were identified by RNA-sequencing. In addition, alterations in purine and pyrimidine, vitamin B6, and sphingolipid metabolism reflect the involvement of inflammatory process in disease pathobiology. Conclusion Our findings suggest the involvement of multiple genetic factors coupled with hampered neuromuscular transmission and systemic inflammation in the onset and disease course of JALS.","PeriodicalId":7921,"journal":{"name":"Annals of Neurosciences","volume":"8 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135899587","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unveiling the Neurobiology of Specific Learning Disorders: Insights from Cognitive Neuroscience.","authors":"Satvinder Singh Saini, Krishan Kumar, Akshay Anand","doi":"10.1177/09727531231211052","DOIUrl":"https://doi.org/10.1177/09727531231211052","url":null,"abstract":"","PeriodicalId":7921,"journal":{"name":"Annals of Neurosciences","volume":"30 4","pages":"217-218"},"PeriodicalIF":1.5,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10662270/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138457376","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Study of Clinical Phenotypes and Analysis of Mutations in L1 Syndrome","authors":"Madhan Shrinivasamurthy, Shreeshail V Benakanal, Nagaraj Kakanahalli","doi":"10.1177/09727531231185224","DOIUrl":"https://doi.org/10.1177/09727531231185224","url":null,"abstract":"Background L1CAM protein plays a crucial role during early development and mutations in L1CAM cause L1 syndrome. L1 syndrome demonstrates a highly variable presentation within and between families. The clinical symptoms of L1 syndrome include mental retardation, hydrocephalus, spasticity, aphasia, and adducted thumb. Mutations in L1CAM gene were found to affect structurally essential key residues in extracellular region of L1 leading to changes in protein binding properties. In most cases, these mutations create unexpected phenotypes which need to be understood thoroughly. Purpose The L1 syndrome patients were identified by various phenotypes like mental retardation, hydrocephalus, aphasia, spasticity, adducted thumb, etc., and the patients or mental retardation (MR) children who had more than three symptoms. This study aimed to screen mutations in multiple exons by Sanger sequencing. Methods The present study employed primers which are designed for specific exons of L1CAM gene to amplify and sequence the amplified product to detect the mutations in L1 syndrome patients by the Sanger sequencing. Chi-square test was used to determine the mutation detection rate with the number of L1 syndrome phenotypes and several i n silico programs were used to investigate potential effects of the variants. Results The nine different mutations in six patients. The mutation detection rate was high (83.33%) in patients with more than one L1 syndrome phenotype and in patients with more than one affected member in a family compared to patients with single phenotypes and negative family history (16.6%). Conclusion The mutation detection rate was related to the presence of typical L1 syndrome phenotypes and the family history. Screening of L1CAM gene mutations in the Indian population is much needed to analyze the mutations and understand the mechanism underlying L1 disease. The present study has identified some novel mutations which are implicated in alterations in various biological functions during development leading to pathogenesis of L1 syndrome.","PeriodicalId":7921,"journal":{"name":"Annals of Neurosciences","volume":"31 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135154137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Primary Spinal Intradural Extramedullary Ewing’s Sarcoma/Peripheral Neuroectodermal Tumour Masquerading Clinically as a Neurogenic Tumour: A Case Report and Review of Literature","authors":"B. K. Praveen, Saikat Das, Manish Gupta, Deepti Joshi, Hemlata Panwar","doi":"10.1177/09727531231190979","DOIUrl":"https://doi.org/10.1177/09727531231190979","url":null,"abstract":"Ewing’s Sarcomas (ES)/Peripheral neuroectodermal tumour (pPNET) are heterogenous group of rare, highly malignant, undifferentiated primitive round-cell neoplasms of neuroectodermal origin. pPNETs are seldom observed to involve the spine of which Spinal Intradural Extramedullary Extraosseous Primary ES/pPNET are extremely rare. We report a case of a 23-year-old male with complaints of low backache and hip pain radiating to the left inguinal region for four months. Radiology findings were suggestive of a neurogenic tumour. Cytomorphology, histomorphology and immunohistochemistry evaluation were done. Diagnosis was consistent with ES/pPNET. Careful correlation between clinical history, cytomorphology, histopathology, immunohistochemical and molecular analysis can help to distinguish primary spinal ES/PNET from other primary spinal tumours and will help clinicians to start treatment at the earliest.","PeriodicalId":7921,"journal":{"name":"Annals of Neurosciences","volume":"216 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134970526","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Augmenting Trait Meta-Mood: An Intervention to Enhance Psychological Well-being and Academic Achievement in Adolescents","authors":"Vijay Rana, Pragyan Dangwal, P. C. Mishra","doi":"10.1177/09727531231194898","DOIUrl":"https://doi.org/10.1177/09727531231194898","url":null,"abstract":"Background The period of adolescence is a crucial phase of development marked by significant transformations in emotional experiences, cognitive processes, and social interactions. Throughout this stage, individuals encounter diverse challenges that can influence their psychological well-being and academic performance. Existing research has highlighted the importance of trait meta-mood, which involves the ability to understand and regulate one’s own emotions, in shaping overall functioning during adolescence. However, there is a lack of comprehensive interventions specifically focusing on enhancing trait meta-mood in this population. Thus, this study aims to address this gap by investigating the effectiveness of an intervention program designed to improve trait meta-mood in adolescents. Purpose The purpose of this study is to evaluate the effects of the intervention program on academic achievement, psychological well-being, and trait meta-mood in adolescents. Methods The study employed a pre- and post-experimental design. Participants included adolescents aged 15–17 years. The intervention program consisted of a series of workshops and activities aimed at promoting self-awareness, emotional regulation, and positive cognitive strategies. Pre- and post-intervention measures were used to assess academic achievement, psychological well-being, and trait meta-mood. Results The findings of this study indicate that the intervention program significantly enhanced academic achievement, psychological well-being, and trait meta-mood of adolescents. Participants who underwent the intervention demonstrated improved self-awareness, emotional regulation skills, and positive cognitive strategies. Moreover, these improvements were associated with higher levels of psychological well-being and academic achievement. Conclusion The results suggest that the intervention program designed to enhance trait meta-mood in adolescents is effective in improving academic achievement, psychological well-being, and trait meta-mood. The findings highlight the importance of promoting self-awareness, emotional regulation, and positive cognitive strategies in interventions targeting adolescents, as they contribute to overall well-being and academic success.","PeriodicalId":7921,"journal":{"name":"Annals of Neurosciences","volume":"98 4 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135784731","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Graph Theoretical Measures for Alzheimer’s, MCI, and Normal Controls: A Comparative Study Using MRI Data","authors":"Rakhi Sharma, S. Joshi","doi":"10.1177/09727531231186503","DOIUrl":"https://doi.org/10.1177/09727531231186503","url":null,"abstract":"The Graph theory provides the platform that could be used to model complex brain networks mathematically, and it could play a significant role in the diagnosis of various neurodegenerative diseases such as Alzheimer’s. The main aim of our study is to perform a comparative analysis in terms of various graph theoretic measures of structural brain networks. In particular, the paper evaluates graph theoretical measures by first forming graphs using magnetic resonance imaging (MRI) data. In this paper, we study and evaluate graph theoretical measures using MRI data, namely characteristic path length, global efficiency, strength, and clustering coefficient, in a cohort of normal controls ( N = 30), a cohort of mild cognitive impairment (MCI) ( N = 30), and a cohort of Alzheimer’s disease (AD) ( N = 30). In our work, MRI data is preprocessed and cortical thickness is extracted for each brain region. The connectivity matrix is obtained, and thus a graph is formed. We have also performed receiver operating characteristic (ROC) and area under the ROC analyses of all graph theoretical measures to better elucidate and validate the results. It is observed that these measures may be used to differentiate Alzheimer’s from normal. In our study, we observed that a very random and disrupted network is obtained in the case of Alzheimer’s in comparison with the normal and MCI cases. The other observations in terms of graph theoretic measures are an increase in characteristic path length, a decrease in global efficiency, a decrease in strength, and a reduction in values of the clustering coefficient in the case of Alzheimer’s. The findings suggest that graph theoretical measures and alterations in network topology could be used as quantitative biomarkers of AD.","PeriodicalId":7921,"journal":{"name":"Annals of Neurosciences","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45032809","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of Resting-state functional Magnetic Resonance Imaging Connectivity Among Patients with Major Depressive Disorder: A Comparative Study","authors":"Paramdeep Singh, Jawahar Singh, S. Peer, Manav Jindal, S. Khokhar, Abhilash Ludhiadch, A. Munshi","doi":"10.1177/09727531231191889","DOIUrl":"https://doi.org/10.1177/09727531231191889","url":null,"abstract":"Resting-state functional connectivity analysis has a potential to unearth the putative neuronal underpinnings of various disorders of the brain. Major depressive disorder (MDD) is regarded as a disorder arising from alterations in functional networks of the brain. There is paucity of literature on resting-state functional magnetic resonance imaging (Rs-fMRI) in MDD, especially from the Indian subcontinent. The purpose of our study was to elucidate the differences in Rs-fMRI connectivity between MDD patients and age and gender matched healthy controls (HC). In this prospective single institute-based study, the patients were recruited consecutively based on Hamilton depression rating scale (HAM-D). Age and gender matched HC were also recruited. Rs-fMRI and anatomical MRI images were acquired for all the subjects (MDD and HC group) and subsequent analysis was done using the CONN toolbox. A total of 49 subjects were included in the final analysis (MDD = 28 patients, HC = 21). HAM-D score was noted to be 24.4 ± 4.8 in the MDD group. There was no significant difference between MDD and HC groups as far as age, gender, employment status, and level of education is concerned. Region-of-interest-based analysis of Rs-fMRI data showed a significantly lower connectivity between the left insula and left nucleus accumbens and between left paracingulate gyrus and bilateral posterior middle temporal gyri in MDD group as compared to HC group. There is reduced connectivity between certain key regions of the brain in MDD patients, that is, between the left insular cortex and the left nucleus accumbens and between the left paracingulate gyrus and the bilateral posterior middle temporal gyrus. These findings could explain the basis of clinical features of MDD such as anhedonia, rumination of thoughts, reduced visuo-spatial comprehension, reduced language function, and response to external stimuli.","PeriodicalId":7921,"journal":{"name":"Annals of Neurosciences","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2023-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43113605","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Modulation of Autophagy and Nitric Oxide Signaling via Glycyrrhizic Acid and 7-Nitroindazole in MPTP-induced Parkinson’s Disease Model","authors":"S. Kartik, Rishi Pal, M. Chaudhary, R. Nath, M. Kumar","doi":"10.1177/09727531231191661","DOIUrl":"https://doi.org/10.1177/09727531231191661","url":null,"abstract":"Parkinson’s disease (PD) is characterized by dopaminergic (DA) neuron loss, Lewy body build-up, and motor dysfunction. One of the primary pathogenic mechanisms of PD development is autophagy dysfunction and nitric oxide-mediated neurotoxicity. The current study focuses on autophagy and nitric oxide (NO) signaling roles in 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-intoxicated PD mice and their protection by their modulators. BALB/c mice were administered MPTP (30 mg/kg/i.p/day) for five consecutive days in order to create a PD model. Following MPTP poisoning, the doses of GA (16.8 mg/kg/day/i.p.), 7-nitroindazole (7-NI) (10 mg/kg/day/i.p.), and their combination were administered once daily for 14 days. Animals were observed for behavioral and locomotor changes, biochemical examination, inflammatory mediators, and analysis of molecular markers. GA, 7-NI alone significantly reduced MPTP-induced locomotor, behavioral, and oxidative damage. Additionally, in MPTP-intoxicated animals, 7-NI and GA had protective effects on dopamine levels, TH positive DA neurons, inflammatory cytokines interleukin 1β (IL-1β), tumor necrosis factor-alpha (TNF-α), nuclear factor-kappa B (NF-κB), and cyclooxygenase-2 (Cox-2) concentration. Furthermore, GA increases LC3BII expression, which in turn increases autophagy. It also decreases total NO content, and a significant response of 7-NI demonstrates their interaction, which is neuroprotective. Present research suggests that dysregulation of autophagy and NO-mediated neuroinflammation are involved in the pathogenesis and progression of MPTP-induced PD. The use of two pharmacotherapeutics, GA and 7-NI, respectively, significantly reduces MPTP-induced PD distortions and their interaction enhances the overall protective effect, suggesting that these pharmacological agents may be used for the treatment of PD.","PeriodicalId":7921,"journal":{"name":"Annals of Neurosciences","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2023-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47186748","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}