{"title":"Compound 350: A New Hope for Individuals with Drug-resistant Epilepsy","authors":"Hareer Fatima, Faiza Riaz, Muhammad Saqlain Mustafa, Burhanuddin Sohail Rangwala, Syed Raza Abbas, Hussain Sohail Rangwala","doi":"10.1177/09727531231192758","DOIUrl":"https://doi.org/10.1177/09727531231192758","url":null,"abstract":"","PeriodicalId":7921,"journal":{"name":"Annals of Neurosciences","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135868933","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}
Pub Date : 2023-11-02DOI: 10.1177/09727531231193242
Alok Singh, Madhusudan Prasad Singh, Nitin R. Gaikwad, and Pankaj Kumar Kannauje
Background A number of clinical trials have compared tenecteplase (TNK) and alteplase for the management of acute ischemic stroke (AIS) and the results are inconsistent. Purpose Present systematic review and meta-analysis is undertaken to analyse the efficacy and safety of TNK in AIS compared to alteplase. Summary A thorough literature search was performed through the databases Embase, Cochrane Library, PubMed, and clinicaltrials.gov, for a period from inception to September 2022, with the keywords i.e., “tenecteplase” and “alteplase” and “acute ischemic stroke.” Clinical trials published in English that compared the efficacy and safety of TNK to alteplase in AIS were included. The major outcomes of this meta-analysis were proportion of patients free from disability and functional independence at 90 days, early neurological improvement at 24 hours, all-cause mortality at 90 days, patients with intra cranial hemorrhage (ICH), and patients with severe disability at 90 days. A total of nine studies with 3,573 patients were included in the analysis. The proportion of patients with freedom from disability was comparable in both groups (relative risk [RR] = 1.04, 95 per cent CI = 0.92–1.17; p = .53). Similarly, proportion of patients with functional independence was comparable (RR = 1.12, 95 per cent CI = 0.96–1.31; p = .14). TNK group had a higher rate of early neurological recovery (RR = 1.56, 95 per cent CI = 0.96–2.54; p = .07). All-cause mortality at 90 days was comparable in both groups (RR = 0.97; 95 per cent CI = 0.72–1.29; p = .82). The proportion of patients with ICH was higher in TNK group (RR = 1.14, 95 per cent CI = 0.77–1.68; p = .52). The proportion of patients with severe disability was less in TNK group (RR =0.84, 95 per cent CI = 0.53–1.32; p = .44). Key Message TNK was similar to alteplase in terms of efficacy and safety. The patients in TNK group showed early neurological improvement but were simultaneously at higher risk of ICH. The TNK can be an alternative to alteplase if the benefits outweigh the risks.
许多临床试验比较了替奈普酶(TNK)和阿替普酶治疗急性缺血性卒中(AIS)的疗效，结果不一致。目的:通过系统回顾和荟萃分析，分析TNK与阿替普酶治疗AIS的疗效和安全性。通过Embase、Cochrane Library、PubMed和clinicaltrials.gov数据库进行了全面的文献检索，检索时间从成立到2022年9月，关键词为“tenecteplase”、“alteplase”和“急性缺血性卒中”。英文发表的临床试验比较了TNK和阿替普酶在AIS中的疗效和安全性。该荟萃分析的主要结果是90天无残疾和功能独立患者的比例、24小时早期神经系统改善、90天全因死亡率、90天颅内出血(ICH)患者和严重残疾患者。共有9项研究，共3573名患者被纳入分析。两组患者无残疾的比例具有可比性(相对危险度[RR] = 1.04, 95% CI = 0.92-1.17;P = .53)。同样，功能独立患者的比例也具有可比性(RR = 1.12, 95% CI = 0.96-1.31;P = .14)。TNK组早期神经系统恢复率较高(RR = 1.56, 95% CI = 0.96-2.54;P = .07)。两组90天全因死亡率具有可比性(RR = 0.97;95% CI = 0.72-1.29;P = .82)。TNK组脑出血患者比例较高(RR = 1.14, 95% CI = 0.77-1.68;P = .52)。TNK组重度残疾患者比例较低(RR =0.84, 95% CI = 0.53-1.32;P = .44)。TNK在疗效和安全性方面与阿替普酶相似。TNK组患者早期神经功能改善，但同时脑出血风险较高。如果益处大于风险，TNK可以作为阿替普酶的替代品。
{"title":"Tenecteplase versus Alteplase in Acute Ischemic Stroke: A Systematic Review and Meta-analysis","authors":"Alok Singh, Madhusudan Prasad Singh, Nitin R. Gaikwad, and Pankaj Kumar Kannauje","doi":"10.1177/09727531231193242","DOIUrl":"https://doi.org/10.1177/09727531231193242","url":null,"abstract":"Background A number of clinical trials have compared tenecteplase (TNK) and alteplase for the management of acute ischemic stroke (AIS) and the results are inconsistent. Purpose Present systematic review and meta-analysis is undertaken to analyse the efficacy and safety of TNK in AIS compared to alteplase. Summary A thorough literature search was performed through the databases Embase, Cochrane Library, PubMed, and clinicaltrials.gov, for a period from inception to September 2022, with the keywords i.e., “tenecteplase” and “alteplase” and “acute ischemic stroke.” Clinical trials published in English that compared the efficacy and safety of TNK to alteplase in AIS were included. The major outcomes of this meta-analysis were proportion of patients free from disability and functional independence at 90 days, early neurological improvement at 24 hours, all-cause mortality at 90 days, patients with intra cranial hemorrhage (ICH), and patients with severe disability at 90 days. A total of nine studies with 3,573 patients were included in the analysis. The proportion of patients with freedom from disability was comparable in both groups (relative risk [RR] = 1.04, 95 per cent CI = 0.92–1.17; p = .53). Similarly, proportion of patients with functional independence was comparable (RR = 1.12, 95 per cent CI = 0.96–1.31; p = .14). TNK group had a higher rate of early neurological recovery (RR = 1.56, 95 per cent CI = 0.96–2.54; p = .07). All-cause mortality at 90 days was comparable in both groups (RR = 0.97; 95 per cent CI = 0.72–1.29; p = .82). The proportion of patients with ICH was higher in TNK group (RR = 1.14, 95 per cent CI = 0.77–1.68; p = .52). The proportion of patients with severe disability was less in TNK group (RR =0.84, 95 per cent CI = 0.53–1.32; p = .44). Key Message TNK was similar to alteplase in terms of efficacy and safety. The patients in TNK group showed early neurological improvement but were simultaneously at higher risk of ICH. The TNK can be an alternative to alteplase if the benefits outweigh the risks.","PeriodicalId":7921,"journal":{"name":"Annals of Neurosciences","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135973675","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}
Background Naegleria fowleri, a “brain-eating” amoeba, is the cause of primary amoebic meningoencephalitis. It spreads through the nasal route via contaminated water sources and invades the central nervous system. Purpose The objective of our study was to assess the knowledge, attitude, and practices about N. fowleri among the general population of Karachi, Pakistan. Methods This study was conducted on the general population in Karachi to assess their knowledge, attitudes, and practices regarding N. fowleri. Data was collected using a questionnaire with four parts, covering demographics, N. fowleri knowledge, attitudes, and preventive practices. The sample size of 400 was determined using the Raosoft Survey Tool. Data analysis was performed using SPSS 25.0, including descriptive analysis and the Pearson chi-square test. Non-probability convenience sampling was used. The study period was June–December 2022. Results This study showed that around 80% of people had never heard about N. fowleri. Conclusion This study revealed the level of awareness of N. fowleri and measures to avoid its infection in Karachi is very low, where N. fowleri infections are reported every year. Hence, appropriate measures should be taken to increase knowledge and awareness to avoid the spread of N. fowleri infection among the population.
{"title":"Knowledge, Attitude, and Practices related to <i>Naegleria fowleri</i> Among General Population of Karachi, Pakistan: A Cross-Sectional Study","authors":"Shaheera Younus, Hareer Fatima, Burhanuddin Sohail Rangwala, Ashna Munir, Syed Muhammad Ahsan, Wania Naeem, Syed Raza Abbas, Hussain Sohail Rangwala","doi":"10.1177/09727531231196996","DOIUrl":"https://doi.org/10.1177/09727531231196996","url":null,"abstract":"Background Naegleria fowleri, a “brain-eating” amoeba, is the cause of primary amoebic meningoencephalitis. It spreads through the nasal route via contaminated water sources and invades the central nervous system. Purpose The objective of our study was to assess the knowledge, attitude, and practices about N. fowleri among the general population of Karachi, Pakistan. Methods This study was conducted on the general population in Karachi to assess their knowledge, attitudes, and practices regarding N. fowleri. Data was collected using a questionnaire with four parts, covering demographics, N. fowleri knowledge, attitudes, and preventive practices. The sample size of 400 was determined using the Raosoft Survey Tool. Data analysis was performed using SPSS 25.0, including descriptive analysis and the Pearson chi-square test. Non-probability convenience sampling was used. The study period was June–December 2022. Results This study showed that around 80% of people had never heard about N. fowleri. Conclusion This study revealed the level of awareness of N. fowleri and measures to avoid its infection in Karachi is very low, where N. fowleri infections are reported every year. Hence, appropriate measures should be taken to increase knowledge and awareness to avoid the spread of N. fowleri infection among the population.","PeriodicalId":7921,"journal":{"name":"Annals of Neurosciences","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135272710","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}
Background Parkinson’s disease (PD) is a progressive neurodegenerative disorder characterized by the loss of dopaminergic neurons, resulting in motor symptoms. Ongoing research shows promise for long-term solutions. Summary Studies highlight the dysregulation of Syt11 and α-synuclein (α-syn) in PD. Disrupted α-syn homeostasis due to palmitoylation of Syt11 contributes to its aggregation, potentially playing a role in PD pathology. α-synuclein aggregates in stool samples show promise as an early diagnostic biomarker. Vocal impairments in PD may be linked to α-syn-induced neuropathology. Irisin, produced after exercise, promotes the degradation of pathologic α-syn. Progress has been made in identifying PD biomarkers. Retinal thinning and abnormal protein aggregates in skin biopsies provide noninvasive diagnostic indicators. Blood-based biomarkers like α-syn, DJ-1, and LRRK2 hold promise but face limitations. Artificial intelligence (AI) models enhance mitophagy, detect PD through sleep-breathing signals, and improve survival. AI analysis aids noninvasive assessment and risk prediction. Further understanding of PD involves studying pathological seeds and genetic mutations. Adenosine receptor regulation relates to early-onset PD, and specific gene mutations impact patient survival. Differentiated-induced pluripotent stem cells offer the potential for cell replacement therapy. Autoimmune features and T-cell involvement suggest intervention targets. Stem cell-based therapies and neurostimulation strategies show promise for improving motor function. Imaging reveals increased central inflammation in PD, suggesting an inflammatory role. Machine learning algorithms and home gait speed monitoring aid in diagnosis and disease progression tracking. Abnormal putamen gradients reflect dopaminergic loss and motor dysfunction. Antiepileptic drug prescriptions are associated with an increased PD risk. Personalized medicine, gut–brain axis involvement, and vestibular stimulation therapy offer potential PD treatment avenues. Genetic engineering techniques and deep brain stimulation show promise for alleviating PD symptoms. Key Message Ongoing research and technological advancements promise to improve PD screening, diagnosis, and treatment, bringing hope to affected individuals.
{"title":"From Diagnosis to Treatment: A Comprehensive Review of Biomarkers and Therapeutic Advances in Parkinson’s Disease","authors":"Hussain Sohail Rangwala, Hareer Fatima, Aina Marzia Syed, Syed Raza Abbas, Burhanuddin Sohail Rangwala","doi":"10.1177/09727531231200733","DOIUrl":"https://doi.org/10.1177/09727531231200733","url":null,"abstract":"Background Parkinson’s disease (PD) is a progressive neurodegenerative disorder characterized by the loss of dopaminergic neurons, resulting in motor symptoms. Ongoing research shows promise for long-term solutions. Summary Studies highlight the dysregulation of Syt11 and α-synuclein (α-syn) in PD. Disrupted α-syn homeostasis due to palmitoylation of Syt11 contributes to its aggregation, potentially playing a role in PD pathology. α-synuclein aggregates in stool samples show promise as an early diagnostic biomarker. Vocal impairments in PD may be linked to α-syn-induced neuropathology. Irisin, produced after exercise, promotes the degradation of pathologic α-syn. Progress has been made in identifying PD biomarkers. Retinal thinning and abnormal protein aggregates in skin biopsies provide noninvasive diagnostic indicators. Blood-based biomarkers like α-syn, DJ-1, and LRRK2 hold promise but face limitations. Artificial intelligence (AI) models enhance mitophagy, detect PD through sleep-breathing signals, and improve survival. AI analysis aids noninvasive assessment and risk prediction. Further understanding of PD involves studying pathological seeds and genetic mutations. Adenosine receptor regulation relates to early-onset PD, and specific gene mutations impact patient survival. Differentiated-induced pluripotent stem cells offer the potential for cell replacement therapy. Autoimmune features and T-cell involvement suggest intervention targets. Stem cell-based therapies and neurostimulation strategies show promise for improving motor function. Imaging reveals increased central inflammation in PD, suggesting an inflammatory role. Machine learning algorithms and home gait speed monitoring aid in diagnosis and disease progression tracking. Abnormal putamen gradients reflect dopaminergic loss and motor dysfunction. Antiepileptic drug prescriptions are associated with an increased PD risk. Personalized medicine, gut–brain axis involvement, and vestibular stimulation therapy offer potential PD treatment avenues. Genetic engineering techniques and deep brain stimulation show promise for alleviating PD symptoms. Key Message Ongoing research and technological advancements promise to improve PD screening, diagnosis, and treatment, bringing hope to affected individuals.","PeriodicalId":7921,"journal":{"name":"Annals of Neurosciences","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135221534","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}
Pub Date : 2023-10-23DOI: 10.1177/09727531231203453
Maliha Edhi, Mishal Abid, Zoya Khemane, Maham Asif, Muhammad Saqlain Mustafa, Hussain Sohail Rangwala, Mohammad Arham Siddiq
{"title":"Postpartum Depression: Role of Therapy and Associated Stigmas in Developing Countries","authors":"Maliha Edhi, Mishal Abid, Zoya Khemane, Maham Asif, Muhammad Saqlain Mustafa, Hussain Sohail Rangwala, Mohammad Arham Siddiq","doi":"10.1177/09727531231203453","DOIUrl":"https://doi.org/10.1177/09727531231203453","url":null,"abstract":"","PeriodicalId":7921,"journal":{"name":"Annals of Neurosciences","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135367505","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}
Pub Date : 2023-10-23DOI: 10.1177/09727531231203452
Syeda Mahrukh Fatima Zaidi, Faizan ur Rehman
{"title":"Malaria-induced Coagulopathy: Complexities and Treatment Challenges in Intracranial Hemorrhage","authors":"Syeda Mahrukh Fatima Zaidi, Faizan ur Rehman","doi":"10.1177/09727531231203452","DOIUrl":"https://doi.org/10.1177/09727531231203452","url":null,"abstract":"","PeriodicalId":7921,"journal":{"name":"Annals of Neurosciences","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135405354","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}
Pub Date : 2023-10-19DOI: 10.1177/09727531231203461
Sibgha Khan, Fatima Mubarak, Khurram Minhas, Dureshahwar Kanwar, Robert Chun Chen
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.
{"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":null,"pages":null},"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}
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.
工作记忆(Working memory, WM)是对信息的编码、记忆和检索具有重要影响的认知功能之一。它影响儿童的学习过程。它的作用变得至关重要，特别是对于有学习障碍(LD)的儿童。世界各地的研究人员都非常重视WM，特别是在设计认知再训练策略以提高这些儿童的认知功能和学业成绩方面。本研究旨在探索全球使用的工具来测量这种结构，并审查有效的WM训练模型在残疾儿童的认知康复中。本研究采用了系统评价，利用了精心设计的“系统评价和荟萃分析的首选报告项目(PRISMA)”指南。对b谷歌Scholar、PubMed和Web of Science的数据库进行了全面检索，符合纳入标准的研究被纳入本综述。在770项有关键词的研究中，只有6项符合纳入标准，并被选中进行详细分析。本综述的结果提供了可靠的证据，证明具有各种学习障碍(LD)和困难的儿童表现不佳，特别是在涉及语言和执行WM的任务中。这些研究支持WM可以随着训练而改善的假设，并显著提高儿童的学业成绩。进一步，这篇综述建议研究和努力必须在设计这些认知训练技术。儿童大脑可塑性高;因此，对他们进行认知训练(强调WM训练和其他认知功能)可以增强他们的认知功能和能力，提高他们的学习成绩。
{"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":null,"pages":null},"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}
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.
{"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":null,"pages":null},"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}
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