Pub Date : 2018-01-01DOI: 10.21767/2171-6625.1000241
Ghani Haider, S. Akhtar, M. Waqas, W. Nizamani, A. Jasmine, S. Enam
Objective: ‘Neuro-robotic exoscope’ is a recent advance. Reports on the use of this operative visualization system are few. In this study we have described our initial experience with the use of Bright MatterTM system for various neurosurgical procedures. Methods: All patients who underwent neurosurgery using Bright MatterTM (Synapive Medical) at the Aga Khan University Hospital (AKUH) from April 2016 to October 2016 were included in this retrospective study. Data was collected from medical charts. Descriptive analysis was performed using SPSS v 21. Results: Bright MatterTM systems were used for a total of 71 cases. The exoscope was used with neuro-navigation and Diffusion Tractography Imaging (DTI) in 28 cases while in 7 cases it was used without navigation. During the same study period, neuro-navigation alone was performed for 36 additional cases but the exoscope was not used. The exoscope was used for a total of 53 hours while the Operating Microscope (OM) was used for 33.5 hours. A total of 12 cases were completed using the exoscope alone, without the need of the OM. Twenty-four lesions were found to be involving different white matter tracts of the brain. Gross Total Resection was done in 17 (of 30) patients. Perioperative mortality was 0%. Five patients had a new neurologic deficit postoperatively. Conclusion: Early experience with the use of exoscope is promising. Upcoming improvements in the exoscope such as three-dimensional stereoscopic system and angled lenses will further improve the functionality of this system.
目的:“神经机器人外窥镜”是一项最新进展。关于使用这种手术可视化系统的报道很少。在这项研究中,我们描述了我们在各种神经外科手术中使用Bright MatterTM系统的初步经验。方法:回顾性研究2016年4月至2016年10月在阿迦汗大学医院(AKUH)使用Bright MatterTM (Synapive Medical)进行神经外科手术的患者。数据收集自医学图表。采用SPSS v 21进行描述性分析。结果:共71例使用Bright MatterTM系统。28例外窥镜与神经导航和弥散束造影(DTI)联合使用,7例外窥镜不带导航。在同一研究期间,另外36例患者单独进行了神经导航,但未使用外窥镜。外窥镜共使用53小时,操作显微镜(OM)共使用33.5小时。总共有12例是单独使用外窥镜完成的,不需要OM。发现24个病变涉及不同的脑白质束。30例患者中有17例进行了全切除。围手术期死亡率为0%。5例患者术后出现新的神经功能缺损。结论:外窥镜的早期应用是有前景的。外窥镜即将进行的改进,如三维立体系统和角度透镜,将进一步提高该系统的功能。
{"title":"Use of Neuro-Robotic Exoscope for Neurosurgery in Pakistan: A Case Series","authors":"Ghani Haider, S. Akhtar, M. Waqas, W. Nizamani, A. Jasmine, S. Enam","doi":"10.21767/2171-6625.1000241","DOIUrl":"https://doi.org/10.21767/2171-6625.1000241","url":null,"abstract":"Objective: ‘Neuro-robotic exoscope’ is a recent advance. Reports on the use of this operative visualization system are few. In this study we have described our initial experience with the use of Bright MatterTM system for various neurosurgical procedures. Methods: All patients who underwent neurosurgery using Bright MatterTM (Synapive Medical) at the Aga Khan University Hospital (AKUH) from April 2016 to October 2016 were included in this retrospective study. Data was collected from medical charts. Descriptive analysis was performed using SPSS v 21. Results: Bright MatterTM systems were used for a total of 71 cases. The exoscope was used with neuro-navigation and Diffusion Tractography Imaging (DTI) in 28 cases while in 7 cases it was used without navigation. During the same study period, neuro-navigation alone was performed for 36 additional cases but the exoscope was not used. The exoscope was used for a total of 53 hours while the Operating Microscope (OM) was used for 33.5 hours. A total of 12 cases were completed using the exoscope alone, without the need of the OM. Twenty-four lesions were found to be involving different white matter tracts of the brain. Gross Total Resection was done in 17 (of 30) patients. Perioperative mortality was 0%. Five patients had a new neurologic deficit postoperatively. Conclusion: Early experience with the use of exoscope is promising. Upcoming improvements in the exoscope such as three-dimensional stereoscopic system and angled lenses will further improve the functionality of this system.","PeriodicalId":91329,"journal":{"name":"Journal of neurology and neuroscience","volume":"9 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.21767/2171-6625.1000241","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68066768","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 : 2018-01-01DOI: 10.21767/2171-6625.1000248
M. Laible, M. Andermann, C. Jansen, K. Hess, N. Alex, E. Geis, S. Pleger, S. Schüler, T. Rizos, Rol, R Veltkamp, S. Horstmann
Background: Cognitive dysfunction is a frequent phenomenon after surgical and cardiovascular interventions. No data on cognitive function after left atrial appendage occlusion (LAAO) are available so far. The aim of the present study was to evaluate the cognitive function after LAAO compared to before LAAO. Methods and findings: Patients who underwent LAAO for treatment of atrial fibrillation at the Heidelberg Department of Internal Medicine III were eligible for this observational, explorative, single-center, non-randomized cohort study, between July 2013 and January 2016. Neurological examination and neuropsychological assessments were conducted one day before LAAO and one month after LAAO, using a comprehensive neuropsychological test battery that included several cognitive domains including executive function, verbal fluency, verbal and non-verbal memory. Paired t-tests and correlation analyses were applied to compare test results pre- and post-intervention. In addition, we descriptively analyzed the number of relevant changes (± 1 standard deviation) over all cognitive domains for each patient. 20 patients completed the study. Mean age was 72.6 ± 6.8 years and 15 (75%) were male. There were no significant changes in any of the tested cognitive domains in group statistics. Descriptive single case analysis showed more deteriorations than improvements by one standard deviation over all cognitive domains in three patients, while in 11 patients the number of positive changes exceeded the number of negative changes. Conclusion: LAAO does not adversely affect cognitive function in the majority of cases.
{"title":"Changes in Cognitive Function after Left Atrial Appendage Occlusion","authors":"M. Laible, M. Andermann, C. Jansen, K. Hess, N. Alex, E. Geis, S. Pleger, S. Schüler, T. Rizos, Rol, R Veltkamp, S. Horstmann","doi":"10.21767/2171-6625.1000248","DOIUrl":"https://doi.org/10.21767/2171-6625.1000248","url":null,"abstract":"Background: Cognitive dysfunction is a frequent phenomenon after surgical and cardiovascular interventions. No data on cognitive function after left atrial appendage occlusion (LAAO) are available so far. The aim of the present study was to evaluate the cognitive function after LAAO compared to before LAAO. Methods and findings: Patients who underwent LAAO for treatment of atrial fibrillation at the Heidelberg Department of Internal Medicine III were eligible for this observational, explorative, single-center, non-randomized cohort study, between July 2013 and January 2016. Neurological examination and neuropsychological assessments were conducted one day before LAAO and one month after LAAO, using a comprehensive neuropsychological test battery that included several cognitive domains including executive function, verbal fluency, verbal and non-verbal memory. Paired t-tests and correlation analyses were applied to compare test results pre- and post-intervention. In addition, we descriptively analyzed the number of relevant changes (± 1 standard deviation) over all cognitive domains for each patient. 20 patients completed the study. Mean age was 72.6 ± 6.8 years and 15 (75%) were male. There were no significant changes in any of the tested cognitive domains in group statistics. Descriptive single case analysis showed more deteriorations than improvements by one standard deviation over all cognitive domains in three patients, while in 11 patients the number of positive changes exceeded the number of negative changes. Conclusion: LAAO does not adversely affect cognitive function in the majority of cases.","PeriodicalId":91329,"journal":{"name":"Journal of neurology and neuroscience","volume":"9 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.21767/2171-6625.1000248","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68067133","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 : 2018-01-01DOI: 10.21767/2171-6625.1000254
Atiyah Ali, T. Begum, F. Reza, Wan Rosalili Wan Rosli, W. Mohamad
Background: Although there is increasing research interest in auditory cognitive function among pregnant women, little is known about auditory cognitive function during the second (mid) and third trimesters of pregnancy. Therefore, we investigated auditory cognitive and behavioral functions during the mid- and third trimesters of pregnancy using event related potentials (ERPs) and neuropsychological tests, respectively. Methods: ERPs were examined using a 128-sensor net, and the PAS, WCST, ZCT, RAVLTIM, RAVLTDR, RAVLTTS were administered as neuropsychological assessment tools. Thirty-nine participants were recruited as a control group (G1, n=15, non-pregnant), mid trimester (G2, n=12, 13-26 weeks), and third trimester (G3, n=12, 26-40 weeks). The auditory oddball paradigm was used during the ERP examination. Subjects silently counted the number of occurrences of a target tone while ignoring the standard tone. Results: The value of mean differences of two stimuli were measured in case of amplitudes of P50, N100 and P300 ERP components. The highest (significantly) amplitudes were found in three, three and two sites in P50, N100 and P300 ERP components, respectively. Pregnant group (G2 and G3 both) evoked the highest (significantly) amplitudes in three, one and two sites in P50, N100 and P300 components, respectively, comparing with the control group (G1). Within pregnant group, G3 possesses the highest (significantly) amplitudes at 2 sites (out of 3) in P50, 1 site (out of 3) in N100 and 1 site (out of 2) in P300 components. The highest amplitude of P300 was observed in G2 comparing with the G3. G2 subjects achieved the highest (significantly/nearly significantly) scores on the WCST, RAVLTIM; where G1 subjects had the highest score in ZCT among groups. Conclusion: These findings indicate that pregnant women exhibit good auditory attention, memory and executive function. Pregnant women exhibited better auditory cognitive function in the second trimester compared with those in the third trimester of pregnancy.
{"title":"Neuro Cognitive Improvement During Pregnancy: An Auditory Event Related Potential (ERP) and Neuropsychological Study","authors":"Atiyah Ali, T. Begum, F. Reza, Wan Rosalili Wan Rosli, W. Mohamad","doi":"10.21767/2171-6625.1000254","DOIUrl":"https://doi.org/10.21767/2171-6625.1000254","url":null,"abstract":"Background: Although there is increasing research interest in auditory cognitive function among pregnant women, little is known about auditory cognitive function during the second (mid) and third trimesters of pregnancy. Therefore, we investigated auditory cognitive and behavioral functions during the mid- and third trimesters of pregnancy using event related potentials (ERPs) and neuropsychological tests, respectively. Methods: ERPs were examined using a 128-sensor net, and the PAS, WCST, ZCT, RAVLTIM, RAVLTDR, RAVLTTS were administered as neuropsychological assessment tools. Thirty-nine participants were recruited as a control group (G1, n=15, non-pregnant), mid trimester (G2, n=12, 13-26 weeks), and third trimester (G3, n=12, 26-40 weeks). The auditory oddball paradigm was used during the ERP examination. Subjects silently counted the number of occurrences of a target tone while ignoring the standard tone. Results: The value of mean differences of two stimuli were measured in case of amplitudes of P50, N100 and P300 ERP components. The highest (significantly) amplitudes were found in three, three and two sites in P50, N100 and P300 ERP components, respectively. Pregnant group (G2 and G3 both) evoked the highest (significantly) amplitudes in three, one and two sites in P50, N100 and P300 components, respectively, comparing with the control group (G1). Within pregnant group, G3 possesses the highest (significantly) amplitudes at 2 sites (out of 3) in P50, 1 site (out of 3) in N100 and 1 site (out of 2) in P300 components. The highest amplitude of P300 was observed in G2 comparing with the G3. G2 subjects achieved the highest (significantly/nearly significantly) scores on the WCST, RAVLTIM; where G1 subjects had the highest score in ZCT among groups. Conclusion: These findings indicate that pregnant women exhibit good auditory attention, memory and executive function. Pregnant women exhibited better auditory cognitive function in the second trimester compared with those in the third trimester of pregnancy.","PeriodicalId":91329,"journal":{"name":"Journal of neurology and neuroscience","volume":"9 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.21767/2171-6625.1000254","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68068101","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 : 2018-01-01DOI: 10.21767/2171-6625.1000260
Tomasz Siwek, M. Barczewska, Åukasz Grabarczyk, M. Sowa, Katarzyna Jezierska-Woźniak, Aleks, ra Habich, J. Wojtkiewicz, A. Badowska, W. Maksymowicz
Objective: To analyze the safety and clinical effect of stem cell therapy in ALS. Methods: In phase I of the trial, ALS subjects have been intrathecally transplanted with autologous bone marrowderived mesenchymal stem cells (MSCs) using a surgical procedure. Results: We present the results of a 6-month interim analysis of the ongoing study. Intrathecal administration of MSCs into ALS patients was feasible and safe. We showed a clinical benefit evident for the entire group of patients (n=25). The mean rate of ALSFRS-R score change (decrease) pre-transplant was 1.76 ± 1.36 points/period whereas the mean post-transplant rate was 1.06 ± 0.9 points/period (p=0.014). The key finding of our study is that there appears to be a group of patients, whom we call “responders” whose reaction to the treatment was different from the reaction of other patients we call “nonresponders”. Conclusion: In our study the “responders” progressed faster prior to the treatment than “non-responders”. Hence, we hypothesize that the pre-treatment progression rate may play a role as a predictive factor and a criterion for selecting ALS patients for cell-based therapies.
{"title":"Mesenchymal Stem Cell (MSC) Transplantation in Patients with Amyotrophic Lateral Sclerosis (ALS): Is there a âResponder Populationâ?","authors":"Tomasz Siwek, M. Barczewska, Åukasz Grabarczyk, M. Sowa, Katarzyna Jezierska-Woźniak, Aleks, ra Habich, J. Wojtkiewicz, A. Badowska, W. Maksymowicz","doi":"10.21767/2171-6625.1000260","DOIUrl":"https://doi.org/10.21767/2171-6625.1000260","url":null,"abstract":"Objective: To analyze the safety and clinical effect of stem cell therapy in ALS. Methods: In phase I of the trial, ALS subjects have been intrathecally transplanted with autologous bone marrowderived mesenchymal stem cells (MSCs) using a surgical procedure. Results: We present the results of a 6-month interim analysis of the ongoing study. Intrathecal administration of MSCs into ALS patients was feasible and safe. We showed a clinical benefit evident for the entire group of patients (n=25). The mean rate of ALSFRS-R score change (decrease) pre-transplant was 1.76 ± 1.36 points/period whereas the mean post-transplant rate was 1.06 ± 0.9 points/period (p=0.014). The key finding of our study is that there appears to be a group of patients, whom we call “responders” whose reaction to the treatment was different from the reaction of other patients we call “nonresponders”. Conclusion: In our study the “responders” progressed faster prior to the treatment than “non-responders”. Hence, we hypothesize that the pre-treatment progression rate may play a role as a predictive factor and a criterion for selecting ALS patients for cell-based therapies.","PeriodicalId":91329,"journal":{"name":"Journal of neurology and neuroscience","volume":"9 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.21767/2171-6625.1000260","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68068217","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 : 2018-01-01DOI: 10.21767/2171-6625.1000274
Rayya A. Almarwani, Fahad Alsayed, Ehab S. Showki, K. Alahmadi, H. Aldhalaan
Cavitating leukoencephalopathy is a group of disorders caused by multiple mitochondria dysfunction syndrome (MMDS). Multiple genetic mutations have been identified in its etiology including a mutation in the IBA57 gene on chromosome 1q42. We present the case of a 5-month-old boy who was diagnosed with progressive cavitating leukoencephalopathy at King Faisal specialist Hospital, Riyadh city, Saudi Arabia. The patient presented with frequent excessive crying since birth. He also had a history of abnormal movement described as tonic spasm of the upper limbs for few second, delayed developmental milestones, and regression of the achieved milestones. Neurological examination of the patient was positive for horizontal eye nystagmus and optic nerve atrophy, exaggerated gag response, spastic tone that was more prevalent in the upper limbs, and bilateral clonus. The patient showed abnormal findings on MRI including cavitation and cystic leukodystrophy, and homozygosity mapping showed the IBA57 gene mutation. The patient died at the age of 7 months from progressive respiratory failure. MMDS is a rare condition, and according to available data, this case of MMDS is the first to be reported in Saudi Arabia and in the Gulf region.
{"title":"Progressive Cavitating Leukoencephalopathy in an Infant Baby: A Case Report","authors":"Rayya A. Almarwani, Fahad Alsayed, Ehab S. Showki, K. Alahmadi, H. Aldhalaan","doi":"10.21767/2171-6625.1000274","DOIUrl":"https://doi.org/10.21767/2171-6625.1000274","url":null,"abstract":"Cavitating leukoencephalopathy is a group of disorders caused by multiple mitochondria dysfunction syndrome (MMDS). Multiple genetic mutations have been identified in its etiology including a mutation in the IBA57 gene on chromosome 1q42. We present the case of a 5-month-old boy who was diagnosed with progressive cavitating leukoencephalopathy at King Faisal specialist Hospital, Riyadh city, Saudi Arabia. The patient presented with frequent excessive crying since birth. He also had a history of abnormal movement described as tonic spasm of the upper limbs for few second, delayed developmental milestones, and regression of the achieved milestones. Neurological examination of the patient was positive for horizontal eye nystagmus and optic nerve atrophy, exaggerated gag response, spastic tone that was more prevalent in the upper limbs, and bilateral clonus. The patient showed abnormal findings on MRI including cavitation and cystic leukodystrophy, and homozygosity mapping showed the IBA57 gene mutation. The patient died at the age of 7 months from progressive respiratory failure. MMDS is a rare condition, and according to available data, this case of MMDS is the first to be reported in Saudi Arabia and in the Gulf region.","PeriodicalId":91329,"journal":{"name":"Journal of neurology and neuroscience","volume":"9 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.21767/2171-6625.1000274","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68070619","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 : 2018-01-01DOI: 10.21767/2171-6625.1000238
M. Bhat, S. Guru, R. Mir, A. Waza, M. Zuberi, M. Sumi, Shaam Bodeliwala, Amit Samadhiya, V. Puri, A. Saxena
Introduction: Epilepsy is the most common heterogeneous neurological disorder affecting approximately 42 million people worldwide. Juvenile myoclonic epilepsy (JME) is a common form of idiopathic generalized epilepsy representing 5-10% of all epilepsy cases. Lennox-Gastaut syndrome (LGS) is one of the most severe epileptic encephalopathies of childhood onset, the cause of which may be symptomatic, i.e., secondary to an underlying brain disorder or cryptogenic, i.e., with no known cause. Sodium channels are integral membrane proteins which play a central role in neuronal membrane excitability and action potential generation. Alpha subunit of voltage gated sodium channels encoded by SCN1A, SCN2A and other genes is pivotal for neuronal signalling. It was planned to analyse the roles of SCN1A Thr1067Ala and SCN2A Arg19Lys polymorphisms in the pathophysiology and risk JME and LGS in the Indian population. Methods: A total of 50 JME patients, 50 LGS Patients and 100 age and sex matched healthy volunteers were recruited in this study. The genotyping of SCN1A Thr1067Ala i.e., 3184 A>G (rs2298771) and SCN2A Arg19Lys i.e., 56 G>A (rs17183814) polymorphism was performed by polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) analysis. Results: The SCN1A Thr1067Ala polymorphism genotypic distribution in LGS was significantly different from the normal population (P=0.008), with mutant homozygous (GG) plus heterozygous (AG) genotypes’ percentage in LGS patients (16%) being lower than in healthy controls (24%). Frequency of the mutant ‘G’ allele of this SNP in LGS patients was 0.1, while it was 0.2 in control subjects (P=0.04). These observations which suggest a protective role of SCN1A Thr1067Ala polymorphism in LGS, were in sync with computation of an odds ratio of 0.21 (95% CI 0.07 to 0.66, p=0.005) for the GG genotype in LGS patients. Though no correlation of SCN1A Thr1067Ala SNP with the severity of disease phenotype in LGS viz. frequency/duration of seizures etc. was noted, a conflicting finding was the significant association of its mutant genotypes with an early age of onset of the syndrome (p=0.007). Contrary to the findings in SCN1A Thr1067Ala, in case of SCN2A Arg19Lys polymorphism, though a significantly different genotypic distribution was present in LGS, in comparison to normal population (p=0.03), the mutant homozygous (AA) and heterozygous (GA) combined percentage in LGS patients (16%) was greater than in healthy controls (11%). This was complemented by observation of an odds ratio of 4.24 (95% CI 1.15 to 15.55, p=0.029, in case of LGS patients with heterozygous (GA) genotype, indicative of an increased disease susceptibility. Unlike LGS, in JME patients no significant differences in genotypic/allelic frequencies of SCN1A Thr1067Ala and SCN2A Arg19Lys polymorphisms were noted and the associated odds ratios for mutant genotypes were also non-significant. Conclusion: The SCN1A Thr1067Ala and SCN2A Arg19Lys polymorphism
癫痫是最常见的异质性神经系统疾病,影响全世界约4200万人。青少年肌阵挛性癫痫(JME)是一种常见的特发性全身性癫痫,占所有癫痫病例的5-10%。Lennox-Gastaut综合征(LGS)是儿童期发病的最严重的癫痫性脑病之一,其原因可能是症状性的,即继发于潜在的脑部疾病或隐源性的,即没有已知的原因。钠通道是一种完整的膜蛋白,在神经元膜兴奋性和动作电位的产生中起着重要作用。由SCN1A、SCN2A等基因编码的电压门控钠通道α亚基是神经元信号传导的关键。计划分析SCN1A Thr1067Ala和SCN2A Arg19Lys多态性在印度人群中JME和LGS的病理生理和风险中的作用。方法:共招募JME患者50例,LGS患者50例,年龄和性别匹配的健康志愿者100例。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对SCN1A Thr1067Ala即3184 A> A (rs2298771)和SCN2A Arg19Lys即56 G>A (rs17183814)多态性进行基因分型。结果:SCN1A Thr1067Ala多态性在LGS人群中的基因型分布与正常人群有显著差异(P=0.008),突变纯合(GG)加杂合(AG)基因型在LGS患者中的比例(16%)低于健康对照组(24%)。该SNP的突变基因“G”在LGS患者中的频率为0.1,而在对照组中为0.2 (P=0.04)。这些观察结果表明SCN1A Thr1067Ala多态性在LGS中具有保护作用,与GG基因型在LGS患者中的比值比为0.21 (95% CI 0.07至0.66,p=0.005)的计算一致。虽然没有注意到SCN1A Thr1067Ala SNP与LGS疾病表型的严重程度,即癫痫发作的频率/持续时间等的相关性,但一个相互矛盾的发现是其突变基因型与早期发病年龄的显著关联(p=0.007)。与SCN1A Thr1067Ala的结果相反,在SCN2A Arg19Lys多态性的情况下,尽管在LGS中存在显著不同的基因型分布(p=0.03),但与正常人群相比,LGS患者的突变纯合子(AA)和杂合子(GA)组合百分比(16%)大于健康对照组(11%)。观察到杂合(GA)基因型LGS患者的优势比为4.24 (95% CI 1.15至15.55,p=0.029),这表明疾病易感性增加。与LGS不同的是,在JME患者中,SCN1A Thr1067Ala和SCN2A Arg19Lys多态性的基因型/等位基因频率没有显著差异,突变基因型的相关优势比也不显著。结论:SCN1A Thr1067Ala和SCN2A Arg19Lys多态性可能在LGS的病理生理中起相反的作用。SCN1A Thr1067Ala突变等位基因的遗传降低了LGS发生的易感性,并可能阻碍Na+通道的打开和神经元的兴奋性。另一方面,SCN2A Arg19Lys多态性突变等位基因增加了LGS发生的风险,这可能会促进神经元动作电位的产生和失放电。这两个snp似乎都不影响JME的发病机制/易感性。
{"title":"Role of SCN1A and SCN2A Gene Polymorphisms in Epilepsy Syndromes-A Study from India","authors":"M. Bhat, S. Guru, R. Mir, A. Waza, M. Zuberi, M. Sumi, Shaam Bodeliwala, Amit Samadhiya, V. Puri, A. Saxena","doi":"10.21767/2171-6625.1000238","DOIUrl":"https://doi.org/10.21767/2171-6625.1000238","url":null,"abstract":"Introduction: Epilepsy is the most common heterogeneous neurological disorder affecting approximately 42 million people worldwide. Juvenile myoclonic epilepsy (JME) is a common form of idiopathic generalized epilepsy representing 5-10% of all epilepsy cases. Lennox-Gastaut syndrome (LGS) is one of the most severe epileptic encephalopathies of childhood onset, the cause of which may be symptomatic, i.e., secondary to an underlying brain disorder or cryptogenic, i.e., with no known cause. Sodium channels are integral membrane proteins which play a central role in neuronal membrane excitability and action potential generation. Alpha subunit of voltage gated sodium channels encoded by SCN1A, SCN2A and other genes is pivotal for neuronal signalling. It was planned to analyse the roles of SCN1A Thr1067Ala and SCN2A Arg19Lys polymorphisms in the pathophysiology and risk JME and LGS in the Indian population. Methods: A total of 50 JME patients, 50 LGS Patients and 100 age and sex matched healthy volunteers were recruited in this study. The genotyping of SCN1A Thr1067Ala i.e., 3184 A>G (rs2298771) and SCN2A Arg19Lys i.e., 56 G>A (rs17183814) polymorphism was performed by polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) analysis. Results: The SCN1A Thr1067Ala polymorphism genotypic distribution in LGS was significantly different from the normal population (P=0.008), with mutant homozygous (GG) plus heterozygous (AG) genotypes’ percentage in LGS patients (16%) being lower than in healthy controls (24%). Frequency of the mutant ‘G’ allele of this SNP in LGS patients was 0.1, while it was 0.2 in control subjects (P=0.04). These observations which suggest a protective role of SCN1A Thr1067Ala polymorphism in LGS, were in sync with computation of an odds ratio of 0.21 (95% CI 0.07 to 0.66, p=0.005) for the GG genotype in LGS patients. Though no correlation of SCN1A Thr1067Ala SNP with the severity of disease phenotype in LGS viz. frequency/duration of seizures etc. was noted, a conflicting finding was the significant association of its mutant genotypes with an early age of onset of the syndrome (p=0.007). Contrary to the findings in SCN1A Thr1067Ala, in case of SCN2A Arg19Lys polymorphism, though a significantly different genotypic distribution was present in LGS, in comparison to normal population (p=0.03), the mutant homozygous (AA) and heterozygous (GA) combined percentage in LGS patients (16%) was greater than in healthy controls (11%). This was complemented by observation of an odds ratio of 4.24 (95% CI 1.15 to 15.55, p=0.029, in case of LGS patients with heterozygous (GA) genotype, indicative of an increased disease susceptibility. Unlike LGS, in JME patients no significant differences in genotypic/allelic frequencies of SCN1A Thr1067Ala and SCN2A Arg19Lys polymorphisms were noted and the associated odds ratios for mutant genotypes were also non-significant. Conclusion: The SCN1A Thr1067Ala and SCN2A Arg19Lys polymorphism","PeriodicalId":91329,"journal":{"name":"Journal of neurology and neuroscience","volume":"9 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.21767/2171-6625.1000238","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68065674","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 : 2018-01-01DOI: 10.21767/2171-6625.1000247
Garcia-Pardo Mp, Platero Armero Jl, D. Je
Mental disorders are serious neuropsychiatric diseases that affect the development of daily life of the person who suffers and during the last decades the number of affected has increased. In these cases, pharmacological treatment is an essential and necessary therapeutic tool. However, problems associated with these treatments, such as addiction, have been described after their use. Interestingly, these pharmacological treatments against mental disorders could improve other types of pathologies, as occurs in the mental illness of addiction. The objective of this work is to analyze the most recent scientific literature in relation to the problem of addiction to legal drugs, mainly anxiolytics and antidepressants, as well as the possible therapeutic use of these for the treatment of addictions. For this, an exhaustive search was carried out in the main scientific databases, selecting the most recent articles that use the keywords that interest us and that are published in the last 5 years. The data points to the great problem of consumption of legal drugs but also to a possible similarity in their mechanism of action between addiction to substances of abuse and mental problems, so that some drugs against mental problems could be used as a pharmacological tool in the addiction to substances.
{"title":"Anxiolytics and Antidepressants: Problem or Solution?","authors":"Garcia-Pardo Mp, Platero Armero Jl, D. Je","doi":"10.21767/2171-6625.1000247","DOIUrl":"https://doi.org/10.21767/2171-6625.1000247","url":null,"abstract":"Mental disorders are serious neuropsychiatric diseases that affect the development of daily life of the person who suffers and during the last decades the number of affected has increased. In these cases, pharmacological treatment is an essential and necessary therapeutic tool. However, problems associated with these treatments, such as addiction, have been described after their use. Interestingly, these pharmacological treatments against mental disorders could improve other types of pathologies, as occurs in the mental illness of addiction. The objective of this work is to analyze the most recent scientific literature in relation to the problem of addiction to legal drugs, mainly anxiolytics and antidepressants, as well as the possible therapeutic use of these for the treatment of addictions. For this, an exhaustive search was carried out in the main scientific databases, selecting the most recent articles that use the keywords that interest us and that are published in the last 5 years. The data points to the great problem of consumption of legal drugs but also to a possible similarity in their mechanism of action between addiction to substances of abuse and mental problems, so that some drugs against mental problems could be used as a pharmacological tool in the addiction to substances.","PeriodicalId":91329,"journal":{"name":"Journal of neurology and neuroscience","volume":"9 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.21767/2171-6625.1000247","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68067125","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 : 2018-01-01DOI: 10.21767/2171-6625.1000277
H. Mihara, Yasunori Tatara, Takanori Niimura, Yohei Ito
Background: About half a century ago, Crandall classified the pathology of cervical myelopathy into five types. Several further classification systems were subsequently proposed. However, many patients do not fit into any of the types described in these classification systems. Methods: This study included 315 consecutive patients who were diagnosed with cervical myelopathy, underwent surgical treatment, and were followed up for at least two years. In each case, the motor and sensory functions of each extremity were evaluated utilizing the Grip and Release Test (GRT), the Triangle Step Test (TST), and the sensory score. Then, spinal cord cross-sections were assessed for damage, and the cases were classified into the following five types: Type I (anterior lesion), which involved dysfunction of a unilateral upper extremity; Type II (central lesion), which involved dysfunction of the bilateral upper extremities; Type III (posterior lesion), which involved lower extremity dysfunction with deep sensory disturbance; Type IV (hemilateral lesion), which involved unilateral palsy; and Type V (transverse lesion), which involved the spreading of neurological symptoms to all extremities. Comparisons of pre- and postoperative neurological status were performed among the five types. Findings: All but two patients were successfully classified into the five types. The mean age at surgery was higher in Types III and V. As for the preoperative severity of myelopathy, the patients’ motor and sensory function scores decreased from Type I to Type V. Types I (67.0%) and II (65.6%) demonstrated significantly greater postoperative neurological improvement than Types III (42.5%) and V (50.8%), according to the Japanese Orthopaedic Association score recovery rate. Conclusion: Based on our classification system, Types I and II of cervical myelopathy, in which the cord damage was mainly located in the grey matter, exhibited greater postoperative neurological improvement than other types involving long tract symptoms.
{"title":"Novel Classification System of Cervical Myelopathy Based on Symptomatology","authors":"H. Mihara, Yasunori Tatara, Takanori Niimura, Yohei Ito","doi":"10.21767/2171-6625.1000277","DOIUrl":"https://doi.org/10.21767/2171-6625.1000277","url":null,"abstract":"Background: About half a century ago, Crandall classified the pathology of cervical myelopathy into five types. Several further classification systems were subsequently proposed. However, many patients do not fit into any of the types described in these classification systems. Methods: This study included 315 consecutive patients who were diagnosed with cervical myelopathy, underwent surgical treatment, and were followed up for at least two years. In each case, the motor and sensory functions of each extremity were evaluated utilizing the Grip and Release Test (GRT), the Triangle Step Test (TST), and the sensory score. Then, spinal cord cross-sections were assessed for damage, and the cases were classified into the following five types: Type I (anterior lesion), which involved dysfunction of a unilateral upper extremity; Type II (central lesion), which involved dysfunction of the bilateral upper extremities; Type III (posterior lesion), which involved lower extremity dysfunction with deep sensory disturbance; Type IV (hemilateral lesion), which involved unilateral palsy; and Type V (transverse lesion), which involved the spreading of neurological symptoms to all extremities. Comparisons of pre- and postoperative neurological status were performed among the five types. Findings: All but two patients were successfully classified into the five types. The mean age at surgery was higher in Types III and V. As for the preoperative severity of myelopathy, the patients’ motor and sensory function scores decreased from Type I to Type V. Types I (67.0%) and II (65.6%) demonstrated significantly greater postoperative neurological improvement than Types III (42.5%) and V (50.8%), according to the Japanese Orthopaedic Association score recovery rate. Conclusion: Based on our classification system, Types I and II of cervical myelopathy, in which the cord damage was mainly located in the grey matter, exhibited greater postoperative neurological improvement than other types involving long tract symptoms.","PeriodicalId":91329,"journal":{"name":"Journal of neurology and neuroscience","volume":"9 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.21767/2171-6625.1000277","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68072054","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 : 2018-01-01DOI: 10.21767/2171-6625.1000250
B. Forogh, S. P. Madani, M. Rafiei, M. Motamed, S. Sajadi
Background: Trans cranial direct current stimulation is a new treatment for neuromodulation and in several studies showed positive effect on Parkinson's disease especially motor symptoms. The aim of this study was to assess additive effects of consecutive sessions of tDCS on functional balance in patients with PD. Method: In this pilot randomized double blind parallel study, 23 patients with Parkinson’s disease (PD) divided in two groups of real Trans Cranial Direct Current Stimulation plus occupational therapy and sham Trans Cranial Direct Current Stimulation plus occupational therapy and the effects of therapeutic sessions (8 sessions Trans Cranial Direct Current Stimulation with 0.6 mA/cm2 current, 20 minute on dorsolateral prefrontal cortex ) were evaluated on balance just after therapeutic course and in 3 months follow-up. Results: There was no significant time-Group interaction in any time point showing that behavior of experimental and sham groups didn’t differ regarding changes in BBS (df=1.44, F=0.91, p=0.38). Conclusion: Based on the results of the present study there is no significant effect of tDCS on functional balance in patients with PD at any time point.
{"title":"Effect of Repeated Sessions of Transcranial Direct Current Stimulation on Functional Balance in Parkinsonâs Disease: A Pilot Randomized Controlled Study","authors":"B. Forogh, S. P. Madani, M. Rafiei, M. Motamed, S. Sajadi","doi":"10.21767/2171-6625.1000250","DOIUrl":"https://doi.org/10.21767/2171-6625.1000250","url":null,"abstract":"Background: Trans cranial direct current stimulation is a new treatment for neuromodulation and in several studies showed positive effect on Parkinson's disease especially motor symptoms. The aim of this study was to assess additive effects of consecutive sessions of tDCS on functional balance in patients with PD. Method: In this pilot randomized double blind parallel study, 23 patients with Parkinson’s disease (PD) divided in two groups of real Trans Cranial Direct Current Stimulation plus occupational therapy and sham Trans Cranial Direct Current Stimulation plus occupational therapy and the effects of therapeutic sessions (8 sessions Trans Cranial Direct Current Stimulation with 0.6 mA/cm2 current, 20 minute on dorsolateral prefrontal cortex ) were evaluated on balance just after therapeutic course and in 3 months follow-up. Results: There was no significant time-Group interaction in any time point showing that behavior of experimental and sham groups didn’t differ regarding changes in BBS (df=1.44, F=0.91, p=0.38). Conclusion: Based on the results of the present study there is no significant effect of tDCS on functional balance in patients with PD at any time point.","PeriodicalId":91329,"journal":{"name":"Journal of neurology and neuroscience","volume":"9 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.21767/2171-6625.1000250","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68066508","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 : 2018-01-01DOI: 10.21767/2171-6625.1000252
G. Mathilde, S. Charlotte, S. Jacobs, Ra, Lemiere Jurgen, Uyttebroeck Anne
Background: Posterior fossa tumors constitute 60-70% of central nerve system tumors in children. These are localized in the cerebellum and the brain stem. The most common tumor types are medulloblastoma, astrocytoma and ependymoma. Treatment for these life-threatening neoplasms is established mainly according to the tumor type and can consist of surgery, radiotherapy and chemotherapy. Since survival rates have significantly increased during the last decades, long-term therapyrelated effects have become more and more important. This study aims to give an extensive review of all treatment-related long-term sequelae in posterior fossa tumor survivors. Method: The PubMed/Medline database was screened for articles published in 1990-2017 using the following search algorithm: ("Infratentorial Neoplasms"(Mesh) OR cerebellar tumor OR brain stem tumor) AND ("Child"(Mesh) OR "Infant"(Mesh) OR "Adolescent"(Mesh)) AND treatment AND (long term sequelae OR outcome). Studies including only adult patients or patients currently in treatment, studies not covering long-term effects and non-original research articles were excluded. Findings: The search algorithm returned 1367 articles. After a full screening procedure, 66 studies were retained for the qualitative analysis. The most frequent long-term sequelae were neurological complications, endocrine deficits, speech problems and intellectual impairment. Medulloblastoma patients suffered the greatest therapyrelated morbidity. Other important risk factors for worse long-term outcome were radiation dose, radiation volume, preoperative hydrocephalus and younger age at diagnosis. Conclusion: Therapy-related long-term effects are very frequent in all posterior fossa tumor survivors and comprise a broad spectrum of somatic, neuropsychological and psychosocial issues. Therefore, allcaregivers involved should be aware of these sequelae, to maximally support vulnerable children who survived their cancer.
{"title":"Therapy-Related Long-Term Effects in Childhood Posterior Fossa Tumors","authors":"G. Mathilde, S. Charlotte, S. Jacobs, Ra, Lemiere Jurgen, Uyttebroeck Anne","doi":"10.21767/2171-6625.1000252","DOIUrl":"https://doi.org/10.21767/2171-6625.1000252","url":null,"abstract":"Background: Posterior fossa tumors constitute 60-70% of central nerve system tumors in children. These are localized in the cerebellum and the brain stem. The most common tumor types are medulloblastoma, astrocytoma and ependymoma. Treatment for these life-threatening neoplasms is established mainly according to the tumor type and can consist of surgery, radiotherapy and chemotherapy. Since survival rates have significantly increased during the last decades, long-term therapyrelated effects have become more and more important. This study aims to give an extensive review of all treatment-related long-term sequelae in posterior fossa tumor survivors. Method: The PubMed/Medline database was screened for articles published in 1990-2017 using the following search algorithm: (\"Infratentorial Neoplasms\"(Mesh) OR cerebellar tumor OR brain stem tumor) AND (\"Child\"(Mesh) OR \"Infant\"(Mesh) OR \"Adolescent\"(Mesh)) AND treatment AND (long term sequelae OR outcome). Studies including only adult patients or patients currently in treatment, studies not covering long-term effects and non-original research articles were excluded. Findings: The search algorithm returned 1367 articles. After a full screening procedure, 66 studies were retained for the qualitative analysis. The most frequent long-term sequelae were neurological complications, endocrine deficits, speech problems and intellectual impairment. Medulloblastoma patients suffered the greatest therapyrelated morbidity. Other important risk factors for worse long-term outcome were radiation dose, radiation volume, preoperative hydrocephalus and younger age at diagnosis. Conclusion: Therapy-related long-term effects are very frequent in all posterior fossa tumor survivors and comprise a broad spectrum of somatic, neuropsychological and psychosocial issues. Therefore, allcaregivers involved should be aware of these sequelae, to maximally support vulnerable children who survived their cancer.","PeriodicalId":91329,"journal":{"name":"Journal of neurology and neuroscience","volume":"9 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.21767/2171-6625.1000252","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68066596","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}