H. Abo-Elwafa, Hazem Ibrahim, H. Elnady, Asmaa H. Abbas
Background: acute ischemic stroke (AIS) remains the third cause of death and disability, and acute phase responses, both increasing international normalized ratio (INR) and activated partial thromboplastin time (APTT) are associated with worse outcome. Erythrocyte sedimentation rate (ESR) serves as severity marker, and non-fasting triglycerides (TG) indicates remnants of chylomicrons and very low density lipoproteins potentially pro-inflammatory. Aims: to design predictive economic panel evaluating AIS. Patients and methods: 100(AIS) patients were included, clinically evaluated by Scandinavian Stroke Scale (SSS) and Modified Rankin Score (MRS), subjected to complete blood count (CBC) on Cell-Dyne3700, manual ESR, INR and APTT on SYSMEX-CA1500, serum uric acid (SUA), serum albumin and non-fasting (TG) on Beckman Coulter AU480. Statistical analysis: STATA intercooled version 9.2. Results: odd ratio (OR), confidence interval (CI) of (MRS) in correlation to WBCs count in quartile (Q)3, 4 (OR 8.14, CI 2.29 - 8.90, significant P = 0.01; and OD13.5, CI 3.39 - 53.68, high significant P = 0.001 respectively), to APTT in Q3 (OD 4.15, CI 1.09 - 15.82, P = 0.04), SUA in Q3 (OD 0.19, CI 0.05 - 0.68, P = 0.01), TG in Q3,4 (OD 0.24 CI 0.06 - 0.88, P = 0.03; and OD 0.09, CI 0.02 - 0.34 P = 0.001 respectively) and serum albumin in Q3(OD 0.13, CI 0.04 - 0.51, P = 0.003), insignificant correlations to ESR, INR and platelets. Conclusion: according to (MRS), the economic predictive panel should be included WBCs, APTT, SUA, and non-fasting TG with serum albumin as prognostic tool evaluating functional disability in AIS.
背景:急性缺血性卒中(AIS)仍然是死亡和残疾的第三大原因,急性期反应,增加的国际标准化比率(INR)和激活的部分凝血活素时间(APTT)与较差的预后相关。红细胞沉降率(ESR)是严重程度的标志,非空腹甘油三酯(TG)表明乳糜微粒残留和极低密度脂蛋白可能促炎。目的:设计评估AIS的预测性经济面板。患者和方法:纳入100例AIS患者,采用斯堪的纳维亚卒中量表(SSS)和改良Rankin评分(MRS)进行临床评估,在Cell-Dyne3700上进行全血细胞计数(CBC),在SYSMEX-CA1500上进行手动ESR、INR和APTT,在Beckman Coulter AU480上进行血清尿酸(SUA)、血清白蛋白和非空腹(TG)检测。统计分析:STATA中冷版本9.2。结果:MRS的奇比(OR)、置信区间(CI)与白细胞计数四分位数相关(Q) 3,4 (OR 8.14, CI 2.29 ~ 8.90,显著P = 0.01;和OD13.5, CI 3.39 ~ 53.68,高显著性P = 0.001), Q3的APTT (OD 4.15, CI 1.09 ~ 15.82, P = 0.04), Q3的SUA (OD 0.19, CI 0.05 ~ 0.68, P = 0.01), q3,4的TG (OD 0.24, CI 0.06 ~ 0.88, P = 0.03;Q3血清白蛋白(OD 0.13, CI 0.04 ~ 0.51, P = 0.003)与ESR、INR、血小板的相关性不显著。结论:根据(MRS),经济预测面板应包括wbc、APTT、SUA、非空腹TG和血清白蛋白作为评估AIS功能障碍的预后工具。
{"title":"How to Design Economic Predictive Laboratory Panel Evaluating Acute Ischemic Stroke Outcome","authors":"H. Abo-Elwafa, Hazem Ibrahim, H. Elnady, Asmaa H. Abbas","doi":"10.4236/nm.2019.101001","DOIUrl":"https://doi.org/10.4236/nm.2019.101001","url":null,"abstract":"Background: acute ischemic stroke (AIS) remains the third cause of death and disability, and acute phase responses, both increasing international normalized ratio (INR) and activated partial thromboplastin time (APTT) are associated with worse outcome. Erythrocyte sedimentation rate (ESR) serves as severity marker, and non-fasting triglycerides (TG) indicates remnants of chylomicrons and very low density lipoproteins potentially pro-inflammatory. Aims: to design predictive economic panel evaluating AIS. Patients and methods: 100(AIS) patients were included, clinically evaluated by Scandinavian Stroke Scale (SSS) and Modified Rankin Score (MRS), subjected to complete blood count (CBC) on Cell-Dyne3700, manual ESR, INR and APTT on SYSMEX-CA1500, serum uric acid (SUA), serum albumin and non-fasting (TG) on Beckman Coulter AU480. Statistical analysis: STATA intercooled version 9.2. Results: odd ratio (OR), confidence interval (CI) of (MRS) in correlation to WBCs count in quartile (Q)3, 4 (OR 8.14, CI 2.29 - 8.90, significant P = 0.01; and OD13.5, CI 3.39 - 53.68, high significant P = 0.001 respectively), to APTT in Q3 (OD 4.15, CI 1.09 - 15.82, P = 0.04), SUA in Q3 (OD 0.19, CI 0.05 - 0.68, P = 0.01), TG in Q3,4 (OD 0.24 CI 0.06 - 0.88, P = 0.03; and OD 0.09, CI 0.02 - 0.34 P = 0.001 respectively) and serum albumin in Q3(OD 0.13, CI 0.04 - 0.51, P = 0.003), insignificant correlations to ESR, INR and platelets. Conclusion: according to (MRS), the economic predictive panel should be included WBCs, APTT, SUA, and non-fasting TG with serum albumin as prognostic tool evaluating functional disability in AIS.","PeriodicalId":19381,"journal":{"name":"Neuroscience and Medicine","volume":"15 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78476769","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}
Neurodegenerative diseases are collective diseases that affect different parts of the brain with common or distinct disease phenotype. In almost all of the Prion diseases, motor impairments that are characterized by motor derangement, apathy, ataxia, and myoclonus are documented and again are shared by motor neuron diseases (MND). Proteins such as; B-Cell lymphoma 2 (BCL2), Copper chaperone for superoxide dismutase (CCS), Amyloid beta precursor protein (APP), Amyloid Precursor-Like Protein1/2 (APLP1/2), Catalase (CAT), and Stress induced phosphoprotein 1 (STIP1), are common interactomes of Prion and superoxide dismutase 1 (SOD1). Although there is no strong evidence to show the interaction of SOD1 and Prion, the implicated common interacting proteins indicate the potential bilateral interaction of those proteins in health and disease. For example, down-regulation of Heat shock protein A (HSPA5), a Prion interactome, increases accumulation of misfolded SOD1 leading to MND. Loss of Cu uptake function disturbs normal function of CCS. Over-expressed proteasome subunit alpha 3 (PSMA3) could fatigue its normal function of removing misfolded proteins. Studies showed the increase in CAT and lipid oxidation both in Prion-knocked out animal and in catalase deficiency cases. Up regulation, down regulation or direct interaction with their interactomes are predicted molecular mechanisms by which Prion and SOD exert their effect. The loss of protective function or the gain of a novel toxic property by the principal proteins is shared in Prion and MND. Thus, it might be possible to conclude that the interplay of proteins displayed in both diseases could be a key phenomenon in motor dysfunction development.
{"title":"Amylotrophic Lateral Sclerosis-Like Motor Impairment in Prion Diseases","authors":"E. Teferedegn, D. Tesfaye, Eyualem Abebe, C. Ün","doi":"10.4236/NM.2019.101002","DOIUrl":"https://doi.org/10.4236/NM.2019.101002","url":null,"abstract":"Neurodegenerative diseases are collective diseases that affect different parts of the brain with common or distinct disease phenotype. In almost all of the Prion diseases, motor impairments that are characterized by motor derangement, apathy, ataxia, and myoclonus are documented and again are shared by motor neuron diseases (MND). Proteins such as; B-Cell lymphoma 2 (BCL2), Copper chaperone for superoxide dismutase (CCS), Amyloid beta precursor protein (APP), Amyloid Precursor-Like Protein1/2 (APLP1/2), Catalase (CAT), and Stress induced phosphoprotein 1 (STIP1), are common interactomes of Prion and superoxide dismutase 1 (SOD1). Although there is no strong evidence to show the interaction of SOD1 and Prion, the implicated common interacting proteins indicate the potential bilateral interaction of those proteins in health and disease. For example, down-regulation of Heat shock protein A (HSPA5), a Prion interactome, increases accumulation of misfolded SOD1 leading to MND. Loss of Cu uptake function disturbs normal function of CCS. Over-expressed proteasome subunit alpha 3 (PSMA3) could fatigue its normal function of removing misfolded proteins. Studies showed the increase in CAT and lipid oxidation both in Prion-knocked out animal and in catalase deficiency cases. Up regulation, down regulation or direct interaction with their interactomes are predicted molecular mechanisms by which Prion and SOD exert their effect. The loss of protective function or the gain of a novel toxic property by the principal proteins is shared in Prion and MND. Thus, it might be possible to conclude that the interplay of proteins displayed in both diseases could be a key phenomenon in motor dysfunction development.","PeriodicalId":19381,"journal":{"name":"Neuroscience and Medicine","volume":"2020 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87831552","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}
T. Deiss, R. Meyers, Jordan Whitney, C. Bell, Тatiana Tatarinova, Lorri Franckle, Susan Beaven
he physiological markers of 310 individuals aged 2 through 19 were evaluated for the effects of the Masgutova Neurosensorimotor Reflex Integration Method on their four body systems: respiratory, cardiovascular, digestive, and nervous systems of individuals with neurodevelopmental deficits—cerebral palsy (CP), seizures, traumatic and acute brain injury, attention deficit and hyperactive disorders (ADD, ADHD), autism spectrum disorders, anxiety, post-trauma and post-traumatic stress disorders. We found that 53.33% of physiological markers and 66.67% of reflex patterns on the pre-test demonstrated to be poorly functioning. Both evaluation results showed statistically significant improvements after 8-days of intensive training using the Masgutova Neurosensorimotor Reflex Integration Method. Improvements according to 60.0% of the physiological markers positively correlated with functionality gains in 77.5% of reflex patterns in all four study groups compared to the control group, which did not receive the Reflex Integration training program (p-value < 0.05). The magnitude of improvement depended upon the severity of symptoms indicating the essentiality for individualized training in accordance with the diagnosis and individual neurological deficits. Results of this study show that reflex integrative techniques can lead to a reduction of stress and other negative factors blocking health homeostasis, limiting perception, and causing dysregulation in behavior and emotions, especially following traumatic events. Positive changes in physiological markers and reflex pattern functions indicate potential benefits for survival and stress resiliency through supporting neuro-physiological and neuro-psychological aspects of overall health and well-being in individuals with neurological deficits.
{"title":"Physiological Markers and Reflex Pattern Progression in Individuals with Neurodevelopmental Deficits Utilizing the MNRI Method","authors":"T. Deiss, R. Meyers, Jordan Whitney, C. Bell, Тatiana Tatarinova, Lorri Franckle, Susan Beaven","doi":"10.4236/NM.2019.101003","DOIUrl":"https://doi.org/10.4236/NM.2019.101003","url":null,"abstract":"he physiological markers of 310 individuals aged 2 through 19 were evaluated for the effects of the Masgutova Neurosensorimotor Reflex Integration Method on their four body systems: respiratory, cardiovascular, digestive, and nervous systems of individuals with neurodevelopmental deficits—cerebral palsy (CP), seizures, traumatic and acute brain injury, attention deficit and hyperactive disorders (ADD, ADHD), autism spectrum disorders, anxiety, post-trauma and post-traumatic stress disorders. We found that 53.33% of physiological markers and 66.67% of reflex patterns on the pre-test demonstrated to be poorly functioning. Both evaluation results showed statistically significant improvements after 8-days of intensive training using the Masgutova Neurosensorimotor Reflex Integration Method. Improvements according to 60.0% of the physiological markers positively correlated with functionality gains in 77.5% of reflex patterns in all four study groups compared to the control group, which did not receive the Reflex Integration training program (p-value < 0.05). The magnitude of improvement depended upon the severity of symptoms indicating the essentiality for individualized training in accordance with the diagnosis and individual neurological deficits. Results of this study show that reflex integrative techniques can lead to a reduction of stress and other negative factors blocking health homeostasis, limiting perception, and causing dysregulation in behavior and emotions, especially following traumatic events. Positive changes in physiological markers and reflex pattern functions indicate potential benefits for survival and stress resiliency through supporting neuro-physiological and neuro-psychological aspects of overall health and well-being in individuals with neurological deficits.","PeriodicalId":19381,"journal":{"name":"Neuroscience and Medicine","volume":"45 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76714459","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}
Rationale: Epilepsy patients are known to have multiple comorbidities. Comorbid psychiatric diagnosis contributes to the poor outcome, especially undiagnosed psychiatric conditions. The goal of the study is to properly identify specific psychiatric diagnosis in this patient population, providing targeted treatment recommendation. Methods: All patients admitted to Epilepsy Monitoring Unit (EMU) from October 2016 to May 2017 are included in this analysis. Psychiatric evaluation was completed from all ninety-seven patients except one due to family refusal (N = 96). All patients have pre-existing epilepsy diagnosis or suspicion of epilepsy. Psychiatric evaluation includes patient interview, family interview, chart review, and discussion with neurology team. Results: Ninety-seven patients were admitted to the EMU between October 2016-November 2017; 96 of those patients received psychiatric intervention. There were 53 (55%) female participants and 43 (45%) male participants; mean age was 43 years old. Of ninety-six epilepsy and epilepsy suspect patients, 61 (64%) reported history of psychiatric illness; 34 (56%) of these patients were treated by their neurologist or primary care doctor for depression or anxiety. Four patients (4.2%) reported pre-existing Post-Trauma Stress Disorder (PTSD) with history of severe trauma. Four patients (4.2%) had autistic spectrum disorder diagnosed at young age; all related to early-onset epilepsy. Five patients (5.2%) had documented, pre-existing Psychogenic Non-Epileptic Seizure (PNES) or conversion disorder evidenced by negative EEG. A few other psychiatric diagnoses were unrelated to epilepsy. Thirty-five patients (36%) who reported no pre-existing psychiatric diagnosis had never had a psychiatric evaluation. After formal psychiatric screening at EMU, 56 out of 96 (58%) of patients’ psychiatric diagnosis has changed. Ten out of 41 (24%) of the patients with pre-existing diagnosis of depression or anxiety were found to have different types of somatic symptoms. With EEG correlation, 13 (14%) patients were confirmed to have PNES or conversion disorder with mixed symptoms during EMU admission from 5 (5%) diagnosed PNES cases before EMU admission. Nine patients met the criteria of somatic symptom disorder with chronic, non-neurological symptoms. Seven (7%) patients received a new diagnosis of adjustment disorder; four of them were due to uncontrolled epilepsy. Five patients received a new diagnosis of PTSD with severe early life trauma; among them, three patients also received another new diagnosis of chronic somatic symptom disorder. Conclusions: Proper diagnosis of psychiatric comorbidities is the first step in treatment. Inpatient psychiatric evaluation during EMU admission identifies more specific psychiatric diagnoses, leading to more targeted treatment recommendations. We strongly recommend integrated psychiatric evaluation for all EMU admissions. Psychiatric consultation with daily inpatient follow-up during EMU ad
{"title":"Psychiatric Evaluation during Epilepsy Monitoring Unit Admission Identifies Undiagnosed Psychiatric Co-Morbidities in Epilepsy Patients","authors":"D. Yu, M. Kurukumbi, Duaa Abdel Hameid","doi":"10.4236/NM.2018.94018","DOIUrl":"https://doi.org/10.4236/NM.2018.94018","url":null,"abstract":"Rationale: Epilepsy patients are known to have multiple comorbidities. Comorbid psychiatric diagnosis contributes to the poor outcome, especially undiagnosed psychiatric conditions. The goal of the study is to properly identify specific psychiatric diagnosis in this patient population, providing targeted treatment recommendation. Methods: All patients admitted to Epilepsy Monitoring Unit (EMU) from October 2016 to May 2017 are included in this analysis. Psychiatric evaluation was completed from all ninety-seven patients except one due to family refusal (N = 96). All patients have pre-existing epilepsy diagnosis or suspicion of epilepsy. Psychiatric evaluation includes patient interview, family interview, chart review, and discussion with neurology team. Results: Ninety-seven patients were admitted to the EMU between October 2016-November 2017; 96 of those patients received psychiatric intervention. There were 53 (55%) female participants and 43 (45%) male participants; mean age was 43 years old. Of ninety-six epilepsy and epilepsy suspect patients, 61 (64%) reported history of psychiatric illness; 34 (56%) of these patients were treated by their neurologist or primary care doctor for depression or anxiety. Four patients (4.2%) reported pre-existing Post-Trauma Stress Disorder (PTSD) with history of severe trauma. Four patients (4.2%) had autistic spectrum disorder diagnosed at young age; all related to early-onset epilepsy. Five patients (5.2%) had documented, pre-existing Psychogenic Non-Epileptic Seizure (PNES) or conversion disorder evidenced by negative EEG. A few other psychiatric diagnoses were unrelated to epilepsy. Thirty-five patients (36%) who reported no pre-existing psychiatric diagnosis had never had a psychiatric evaluation. After formal psychiatric screening at EMU, 56 out of 96 (58%) of patients’ psychiatric diagnosis has changed. Ten out of 41 (24%) of the patients with pre-existing diagnosis of depression or anxiety were found to have different types of somatic symptoms. With EEG correlation, 13 (14%) patients were confirmed to have PNES or conversion disorder with mixed symptoms during EMU admission from 5 (5%) diagnosed PNES cases before EMU admission. Nine patients met the criteria of somatic symptom disorder with chronic, non-neurological symptoms. Seven (7%) patients received a new diagnosis of adjustment disorder; four of them were due to uncontrolled epilepsy. Five patients received a new diagnosis of PTSD with severe early life trauma; among them, three patients also received another new diagnosis of chronic somatic symptom disorder. Conclusions: Proper diagnosis of psychiatric comorbidities is the first step in treatment. Inpatient psychiatric evaluation during EMU admission identifies more specific psychiatric diagnoses, leading to more targeted treatment recommendations. We strongly recommend integrated psychiatric evaluation for all EMU admissions. Psychiatric consultation with daily inpatient follow-up during EMU ad","PeriodicalId":19381,"journal":{"name":"Neuroscience and Medicine","volume":"59 1","pages":"180-186"},"PeriodicalIF":0.0,"publicationDate":"2018-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84852087","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}
P. M’belesso, E. Yangatimbi, Vincent de Paul Senekian
Stroke is a very common neurological condition that causes permanent disability in half of the cases, at least in sub-Saharan Africa. They represent the second most common cause of death in Africa. Objective of this study was to evaluate the prognostic value of the intake period of patients suffering from these conditions on the survival time of one month of hospitalization in hospitals in Bangui. We conducted a prospective study cross prognostic kind in the neurology departments, internal medicine and intensive care units of two large central hospitals from February to August 2017. Subject recruitment was complete with a made questionnaire based on the modified one of the World Health Organization on neurological disorders. A total of 154 patients were included, with a mean age of 63.15 years ± 10.98 and extremes ranging from 38 to 91 years. A male predominance was noted (60%) with a sex ratio (M/F) of 1.5. For 76 subjects (49.35%), care was taken with a hospital admission period of less than or equal to one day, while for 78 other 78 (50.65%) the admission period was higher to one day. Average admission time patients caught early was 1.00 day and the upper limit intake to one day was 4.59 ± 2.33 days with a statistically significant difference (p < 0.0001). Median admission delay for patients treated late was 4 days. Pre-hospital and hospital determinants by admission delay are presented in Table 1. The survival time was better in the group of patients who were treated early (p = 0.0039). This study shows the negative impact of late management on the survival time of patients.
{"title":"Prognostic Factors Associated with Mortality Related to Stroke in Bangui (Central African Republic)","authors":"P. M’belesso, E. Yangatimbi, Vincent de Paul Senekian","doi":"10.4236/nm.2018.94020","DOIUrl":"https://doi.org/10.4236/nm.2018.94020","url":null,"abstract":"Stroke is a very common neurological condition that causes permanent disability in half of the cases, at least in sub-Saharan Africa. They represent the second most common cause of death in Africa. Objective of this study was to evaluate the prognostic value of the intake period of patients suffering from these conditions on the survival time of one month of hospitalization in hospitals in Bangui. We conducted a prospective study cross prognostic kind in the neurology departments, internal medicine and intensive care units of two large central hospitals from February to August 2017. Subject recruitment was complete with a made questionnaire based on the modified one of the World Health Organization on neurological disorders. A total of 154 patients were included, with a mean age of 63.15 years ± 10.98 and extremes ranging from 38 to 91 years. A male predominance was noted (60%) with a sex ratio (M/F) of 1.5. For 76 subjects (49.35%), care was taken with a hospital admission period of less than or equal to one day, while for 78 other 78 (50.65%) the admission period was higher to one day. Average admission time patients caught early was 1.00 day and the upper limit intake to one day was 4.59 ± 2.33 days with a statistically significant difference (p < 0.0001). Median admission delay for patients treated late was 4 days. Pre-hospital and hospital determinants by admission delay are presented in Table 1. The survival time was better in the group of patients who were treated early (p = 0.0039). This study shows the negative impact of late management on the survival time of patients.","PeriodicalId":19381,"journal":{"name":"Neuroscience and Medicine","volume":"75 1","pages":"198-208"},"PeriodicalIF":0.0,"publicationDate":"2018-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86148191","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}
Horizontal Gaze Palsy with Progressive Scoliosis is a rare, congenital autosomal recessive disorder caused by mutations in the ROBO3 gene. It is characterized by the absence of conjugate horizontal eye movements with preserved vertical gaze, variable convergence, and progressive scoliosis, developing in childhood and adolescence. ROBO3 gene mutations are causative of the lack, or at least reduction, of crossing of the descending corticospinal and ascending lemniscal sensory tracts in the medulla. To date, 39 different mutations, including missense, nonsense, frameshift, and splice site mutations have been described in the ROBO3 gene and related to Horizontal Gaze Palsy With Progressive Scoliosis. In addition, a lot of variants of uncertain pathological significance have been reported for the first time by Illumina Clinical Services. Here we report an update on mutations of the ROBO3 gene and some information on the pathogenesis but much remains to be investigated on the consequences of mutations on ROBO3 expression and function. Therefore, further detailed functional analyses are necessary to clarify a possible role of the variants of uncertain pathological significance as the cause of the disease. In conclusion, we hope that this article will help in molecular screening for the ROBO3 gene and will contribute to enlargement of the ROBO3 gene variation database.
{"title":"The Spectrum of ROBO3 Mutations in Horizontal Gaze Palsy with Progressive Scoliosis: An Update","authors":"C. Ungaro, R. Mazzei, S. Cavallaro, T. Sprovieri","doi":"10.4236/NM.2018.94019","DOIUrl":"https://doi.org/10.4236/NM.2018.94019","url":null,"abstract":"Horizontal Gaze Palsy with Progressive Scoliosis is a rare, congenital autosomal recessive disorder caused by mutations in the ROBO3 gene. It is characterized by the absence of conjugate horizontal eye movements with preserved vertical gaze, variable convergence, and progressive scoliosis, developing in childhood and adolescence. ROBO3 gene mutations are causative of the lack, or at least reduction, of crossing of the descending corticospinal and ascending lemniscal sensory tracts in the medulla. To date, 39 different mutations, including missense, nonsense, frameshift, and splice site mutations have been described in the ROBO3 gene and related to Horizontal Gaze Palsy With Progressive Scoliosis. In addition, a lot of variants of uncertain pathological significance have been reported for the first time by Illumina Clinical Services. Here we report an update on mutations of the ROBO3 gene and some information on the pathogenesis but much remains to be investigated on the consequences of mutations on ROBO3 expression and function. Therefore, further detailed functional analyses are necessary to clarify a possible role of the variants of uncertain pathological significance as the cause of the disease. In conclusion, we hope that this article will help in molecular screening for the ROBO3 gene and will contribute to enlargement of the ROBO3 gene variation database.","PeriodicalId":19381,"journal":{"name":"Neuroscience and Medicine","volume":"73 1","pages":"187-197"},"PeriodicalIF":0.0,"publicationDate":"2018-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74136495","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}
C. Adjien, D. Gnonlonfoun, Cyriaque Dochamou, A. Donald, D. Houinato
Sciatica, mostly clinical-based diagnosis, is a potentially debilitating condition as a result of disco-radicular conflict between L4 and L5 or L5 and S1. This study aims at describing the epidemiological, clinical and etiological aspects of sciatica in Hubert Koutoukou Maga Teaching Hospital (CNHU-HKM) of Cotonou. It was a prospective, descriptive and analytical study conducted in CNHU-HKM Cotonou neurology department from 1st January to 30th June 2016. The study population comprised 115 low back pain patients seen in consultation. Data collection was carried out through a standard information sheet with socio-demographic, clinical, para-clinical, etiological and therapeutic data. Epi data 3.1 was used for data entry and Stata11 for processing. Frequency of sciatica was 18.6%, with 95% CI [11.5% - 25.7%]. The study population age ranged from 29 to 73 years, with 52 ± 16 as mean value, while sex ratio was estimated at 0.6. Bilateral sciatica representing 53% was present in L5 and S1 nerve roots in 44.4% of cases. It was exacerbated in prolonged standing (24.4%) and relieved in supine position (44.3%), with paresthesia (59.1%) and intermittent radicular claudication (40.9%). Spinal osteoarthritis was the most prevalent etiology (47%). Sciatica is becoming increasing prevalent and should be regarded as problem of health concern.
坐骨神经痛,大多是基于临床的诊断,是一种潜在的衰弱性疾病,是由于L4和L5或L5和S1之间的椎间盘神经根冲突的结果。本研究旨在描述科托努休伯特口口Maga教学医院(CNHU-HKM)坐骨神经痛的流行病学、临床和病因学方面的情况。这是一项前瞻性、描述性和分析性研究,于2016年1月1日至6月30日在CNHU-HKM科托努神经内科进行。研究人群包括115名就诊的腰痛患者。数据收集是通过包含社会人口、临床、准临床、病因学和治疗数据的标准信息表进行的。数据录入使用Epi data 3.1,处理使用Stata11。坐骨神经痛发生率为18.6%,95% CI[11.5% ~ 25.7%]。研究人群年龄29 ~ 73岁,平均年龄52±16岁,性别比估计为0.6。双侧坐骨神经痛53%发生于L5神经根,44.4%发生于S1神经根。长时间站立时加重(24.4%),仰卧位时减轻(44.3%),伴有感觉异常(59.1%)和间歇性神经根性跛行(40.9%)。脊柱骨关节炎是最常见的病因(47%)。坐骨神经痛正变得越来越普遍,应被视为健康问题。
{"title":"Epidemiological, Clinical and Etiological Aspects of Sciatica in Hospital Setting, CNHU-HKM Cotonou","authors":"C. Adjien, D. Gnonlonfoun, Cyriaque Dochamou, A. Donald, D. Houinato","doi":"10.4236/nm.2018.94017","DOIUrl":"https://doi.org/10.4236/nm.2018.94017","url":null,"abstract":"Sciatica, mostly clinical-based diagnosis, is a potentially debilitating condition as a result of disco-radicular conflict between L4 and L5 or L5 and S1. This study aims at describing the epidemiological, clinical and etiological aspects of sciatica in Hubert Koutoukou Maga Teaching Hospital (CNHU-HKM) of Cotonou. It was a prospective, descriptive and analytical study conducted in CNHU-HKM Cotonou neurology department from 1st January to 30th June 2016. The study population comprised 115 low back pain patients seen in consultation. Data collection was carried out through a standard information sheet with socio-demographic, clinical, para-clinical, etiological and therapeutic data. Epi data 3.1 was used for data entry and Stata11 for processing. Frequency of sciatica was 18.6%, with 95% CI [11.5% - 25.7%]. The study population age ranged from 29 to 73 years, with 52 ± 16 as mean value, while sex ratio was estimated at 0.6. Bilateral sciatica representing 53% was present in L5 and S1 nerve roots in 44.4% of cases. It was exacerbated in prolonged standing (24.4%) and relieved in supine position (44.3%), with paresthesia (59.1%) and intermittent radicular claudication (40.9%). Spinal osteoarthritis was the most prevalent etiology (47%). Sciatica is becoming increasing prevalent and should be regarded as problem of health concern.","PeriodicalId":19381,"journal":{"name":"Neuroscience and Medicine","volume":"27 3 1","pages":"171-179"},"PeriodicalIF":0.0,"publicationDate":"2018-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88888737","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}
Mateus Beck Fonseca, R. Andrades, S. Bach, C. Wiener, J. Oses
Motivation: Bipolar disorder (BD) and schizophrenia (SZ) has a difficult diagnosis, so the main objective of this article is to propose the use of Artificial Neural Networks (ANNs) to classify (diagnose) groups of patients with BD or SZ from a control group using sociodemographic and biochemical variables. Methods: Artificial neural networks are used as classifying tool. The data from this study were obtained from the array collection from Stanley Neuropathology Consortium databank. Inflammatory markers and characteristics of the sampled population were the inputs variables. Results: Our findings suggest that an artificial neural network could be trained with more than 90% accuracy, aiming the classification and diagnosis of bipolar, schizophrenia and control healthy group. Conclusion: Trained ANNs could be used to improve diagnosis in Schizophrenia and Bipolar disorders.
{"title":"Bipolar and Schizophrenia Disorders Diagnosis Using Artificial Neural Network","authors":"Mateus Beck Fonseca, R. Andrades, S. Bach, C. Wiener, J. Oses","doi":"10.4236/NM.2018.94021","DOIUrl":"https://doi.org/10.4236/NM.2018.94021","url":null,"abstract":"Motivation: Bipolar disorder (BD) and schizophrenia (SZ) has a difficult diagnosis, so the main objective of this article is to propose the use of Artificial Neural Networks (ANNs) to classify (diagnose) groups of patients with BD or SZ from a control group using sociodemographic and biochemical variables. Methods: Artificial neural networks are used as classifying tool. The data from this study were obtained from the array collection from Stanley Neuropathology Consortium databank. Inflammatory markers and characteristics of the sampled population were the inputs variables. Results: Our findings suggest that an artificial neural network could be trained with more than 90% accuracy, aiming the classification and diagnosis of bipolar, schizophrenia and control healthy group. Conclusion: Trained ANNs could be used to improve diagnosis in Schizophrenia and Bipolar disorders.","PeriodicalId":19381,"journal":{"name":"Neuroscience and Medicine","volume":"108 1","pages":"209-220"},"PeriodicalIF":0.0,"publicationDate":"2018-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80540008","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}
D. Kimura, Taro Ohtoshi, Hiro Bizen, A. Imai, M. Notoya, Kazumasa Yamada
The Trail Making Test A (TMT-A) is a task related to visual search. Therefore, performance in the TMT-A has a high possibility of being influenced by visual information, such as the arrangement of numbers. The purpose of this study was to measure eye movements during the TMT-A using an eye tracker, to analyze differences in enforcement and trace execution, and to examine appropriate inspection drawings as visual search tasks. Study 1 was performed in 14 young healthy subjects and Study 2 was performed in 6 young healthy subjects. The English and Japanese versions of the TMT-A were administered as usual and the subjects performed the traces in a sitting position. The eye movements of the subjects were measured during the task. We analyzed the combined motion angles of both eyes. We compared the average values (30 Hz/s) of movement in the horizontal (X-axis) and vertical (Y-axis) directions during the normal administration of the English and Japanese version of the TMT-A. We also compared the traces performed by the subjects. There were no differences in tracing or enforcement in the English version of the TMT-A. Especially in the vertical visualization operation, it was shown that the normal enforcement was fewer than the tracing, and almost no up-to-down search was performed. In contrast, the subjects performed visual searches in all directions during the Japanese version of the TMT-A.
{"title":"A Study on Visual Search during the Trail Making Test: Analysis Using an Eye Tracker","authors":"D. Kimura, Taro Ohtoshi, Hiro Bizen, A. Imai, M. Notoya, Kazumasa Yamada","doi":"10.4236/nm.2018.93012","DOIUrl":"https://doi.org/10.4236/nm.2018.93012","url":null,"abstract":"The Trail Making Test A (TMT-A) is a task related to visual search. Therefore, performance in the TMT-A has a high possibility of being influenced by visual information, such as the arrangement of numbers. The purpose of this study was to measure eye movements during the TMT-A using an eye tracker, to analyze differences in enforcement and trace execution, and to examine appropriate inspection drawings as visual search tasks. Study 1 was performed in 14 young healthy subjects and Study 2 was performed in 6 young healthy subjects. The English and Japanese versions of the TMT-A were administered as usual and the subjects performed the traces in a sitting position. The eye movements of the subjects were measured during the task. We analyzed the combined motion angles of both eyes. We compared the average values (30 Hz/s) of movement in the horizontal (X-axis) and vertical (Y-axis) directions during the normal administration of the English and Japanese version of the TMT-A. We also compared the traces performed by the subjects. There were no differences in tracing or enforcement in the English version of the TMT-A. Especially in the vertical visualization operation, it was shown that the normal enforcement was fewer than the tracing, and almost no up-to-down search was performed. In contrast, the subjects performed visual searches in all directions during the Japanese version of the TMT-A.","PeriodicalId":19381,"journal":{"name":"Neuroscience and Medicine","volume":"7 1","pages":"116-122"},"PeriodicalIF":0.0,"publicationDate":"2018-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81217616","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: Both sepsis associated encephalopathy (SAE) and supratentorial intracerebral hemorrhage (SICH) are a significant cause of coma and death throughout the world. The aim of this study was to investigate whether the presence of SAE among acute SICH with coma would predict a poor outcome. Methods: A retrospective of consecutive patients was selected for study. All registered an adult intensive care unit (ICU) of university teaching hospital between June, 2013 and July, 2015. Brain computed tomography (CT) scans were analyzed on admission and at coma onset or after coma onset. Univariate and Cox regression analyses were performed. Results: A total of 379 SICH with coma was studied. Among these, 245 (64.6%) SICH patients with coma due to SAE and 134 (35.4%) SICH with coma no SAE was compared. Our data showed that the frequency of the SAE in SICH patients increased at about double the proportion over the four SIRS criteria. The SICH patients with SAE were more likely to present with infection (100% vs 35.8%) and multiple organ failure (1.2 ± 0.9 vs 0.1 ± 0.3), especially nosocomal brain failure (60.4%). The 30 days mortality was significantly higher in the SAE group than those who did not (60.8% vs 11.2%). In Cox multivariate logistic analysis, the SAE (RR, 4.4; 95% CI, 2.296 - 8.422; P = 0.000) was more likely to related to risk on death in SICH patient with coma. Conclusions: SAE is a frequent complication of SICH, which greatly increased risk of death among SICH patients with coma.
背景:脓毒症相关脑病(SAE)和幕上脑出血(siich)是全世界昏迷和死亡的重要原因。本研究的目的是探讨急性siich伴昏迷患者中SAE的存在是否预示不良预后。方法:选取连续患者进行回顾性研究。均于2013年6月至2015年7月在大学教学医院成人重症监护病房(ICU)登记。分析入院时、昏迷时和昏迷后的脑CT扫描结果。进行单因素和Cox回归分析。结果:共对379例伴有昏迷的脑出血患者进行了研究。其中,245例(64.6%)SICH合并SAE昏迷患者与134例(35.4%)SICH合并无SAE昏迷患者进行了比较。我们的数据显示,siich患者的SAE发生率增加了四种SIRS标准的两倍。SICH合并SAE患者更容易出现感染(100% vs 35.8%)和多器官功能衰竭(1.2±0.9 vs 0.1±0.3),尤其是院内性脑衰竭(60.4%)。SAE组的30天死亡率明显高于非SAE组(60.8% vs 11.2%)。在Cox多因素logistic分析中,SAE (RR, 4.4;95% ci, 2.296 - 8.422;P = 0.000)更可能与昏迷的脑出血患者死亡风险相关。结论:SAE是SICH的常见并发症,在昏迷的SICH患者中,SAE大大增加了死亡风险。
{"title":"Sepsis Associated Encephalopathy Predicts Poor Outcome among Acute Supratentorial Intracerebral Hemorrhage with Coma","authors":"D. Tong, Ye-Ting. Zhou, Shao-Dan. Wang","doi":"10.4236/nm.2018.93013","DOIUrl":"https://doi.org/10.4236/nm.2018.93013","url":null,"abstract":"Background: Both sepsis associated encephalopathy (SAE) and supratentorial intracerebral hemorrhage (SICH) are a significant cause of coma and death throughout the world. The aim of this study was to investigate whether the presence of SAE among acute SICH with coma would predict a poor outcome. Methods: A retrospective of consecutive patients was selected for study. All registered an adult intensive care unit (ICU) of university teaching hospital between June, 2013 and July, 2015. Brain computed tomography (CT) scans were analyzed on admission and at coma onset or after coma onset. Univariate and Cox regression analyses were performed. Results: A total of 379 SICH with coma was studied. Among these, 245 (64.6%) SICH patients with coma due to SAE and 134 (35.4%) SICH with coma no SAE was compared. Our data showed that the frequency of the SAE in SICH patients increased at about double the proportion over the four SIRS criteria. The SICH patients with SAE were more likely to present with infection (100% vs 35.8%) and multiple organ failure (1.2 ± 0.9 vs 0.1 ± 0.3), especially nosocomal brain failure (60.4%). The 30 days mortality was significantly higher in the SAE group than those who did not (60.8% vs 11.2%). In Cox multivariate logistic analysis, the SAE (RR, 4.4; 95% CI, 2.296 - 8.422; P = 0.000) was more likely to related to risk on death in SICH patient with coma. Conclusions: SAE is a frequent complication of SICH, which greatly increased risk of death among SICH patients with coma.","PeriodicalId":19381,"journal":{"name":"Neuroscience and Medicine","volume":"31 1","pages":"123-134"},"PeriodicalIF":0.0,"publicationDate":"2018-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73713126","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}