K. H. Nguyen, Hailey B. Gaskamp, Michael E. Walston, Regina Zamacona, J. Stowers, A. Seifi
Background: Ventriculoperitoneal shunts (VPS) have been used to treat hydrocephalus for many years. This procedure has saved many lives, but it does not come without its complications. Considering the invasiveness of the procedure, we sought to investigate the mortality rate of VPS in children in the USA. Methods: This retrospective cohort study used the Nationwide Inpatient Sample database to examine patients from the ages of 0 17 years who underwent the procedures involving the insertion, replacement, or removal of VPS from 1997 to 2012. Z-test was used to analyze the statistical significance. Results: During the study period, we recorded a total number of 165,484 cases of VPS with 54.5% occurring in males. The mean age was 5.25 years old, and the average mortality rate was 1.03%. The annual number of patients receiving VPS at all institutions during the study period decreased significantly from 13,075 in 1997 to 8,499 in 2012 (P = 0.001). The rate of patients receiving VPS per 100,000 discharges at all institutions during the study period also decreased significantly from 18.4 in 1997 to 11.5 in 2012 (P = 0.0001). The number of in-hospital deaths significantly decreased from 150 in 1997 to 50 in 2012 (P = 0.001), and the main decrease in the mortality happened after 2009 (P = 0.001). Conclusions: Utilization of pediatric VPS decreased in the USA between 1997 and 2012, and the number of in-hospital deaths significantly decreased as well. This may be related to better healthcare services in recent years, especially with more emphasis on the inpatient quality indicators (IQIs). Future research should determine the cause of the significant decrease and use the information to continue bringing the mortality rate down.
{"title":"Trend of Death in Pediatric Ventriculoperitoneal Shunts in the USA","authors":"K. H. Nguyen, Hailey B. Gaskamp, Michael E. Walston, Regina Zamacona, J. Stowers, A. Seifi","doi":"10.14740/jnr573","DOIUrl":"https://doi.org/10.14740/jnr573","url":null,"abstract":"Background: Ventriculoperitoneal shunts (VPS) have been used to treat hydrocephalus for many years. This procedure has saved many lives, but it does not come without its complications. Considering the invasiveness of the procedure, we sought to investigate the mortality rate of VPS in children in the USA. Methods: This retrospective cohort study used the Nationwide Inpatient Sample database to examine patients from the ages of 0 17 years who underwent the procedures involving the insertion, replacement, or removal of VPS from 1997 to 2012. Z-test was used to analyze the statistical significance. Results: During the study period, we recorded a total number of 165,484 cases of VPS with 54.5% occurring in males. The mean age was 5.25 years old, and the average mortality rate was 1.03%. The annual number of patients receiving VPS at all institutions during the study period decreased significantly from 13,075 in 1997 to 8,499 in 2012 (P = 0.001). The rate of patients receiving VPS per 100,000 discharges at all institutions during the study period also decreased significantly from 18.4 in 1997 to 11.5 in 2012 (P = 0.0001). The number of in-hospital deaths significantly decreased from 150 in 1997 to 50 in 2012 (P = 0.001), and the main decrease in the mortality happened after 2009 (P = 0.001). Conclusions: Utilization of pediatric VPS decreased in the USA between 1997 and 2012, and the number of in-hospital deaths significantly decreased as well. This may be related to better healthcare services in recent years, especially with more emphasis on the inpatient quality indicators (IQIs). Future research should determine the cause of the significant decrease and use the information to continue bringing the mortality rate down.","PeriodicalId":16489,"journal":{"name":"Journal of Neurology Research","volume":"20 1","pages":"69-72"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78091162","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. Franco, Neelam Neupane, M. Riaz, Sanaz Mohammadzadeh, I. Sachmechi
A 57-year-old woman with history of prediabetes and dyslipidemia treated with PCSK9 inhibitors due to statin intolerance presented to the clinic with complaints of bilateral thigh pain, weakness and numbness. During the physical exam, the patient exhibited stocking loss of vibratory and cold temperature sensation in both legs, absent ankle reflexes and tandem imbalance with normal cranial nerve functions. After all the clinical studies, the patient was diagnosed with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) as an exclusion diagnosis. A link with medications (Praluent) was determined to be the most possible offending agent. With this case, we present a rare case of CIDP in the setting of low level of low-density lipoprotein cholesterol (LDL-C) due to PCSK9 inhibitors. This case opens the door to a new and unrecognized adverse effect of this type of medication. J Neurol Res. 2019;9(4-5):72-74 doi: https://doi.org/10.14740/jnr552
{"title":"Chronic Inflammatory Demyelinating Polyradiculoneuropathy Association With Low Cholesterol Levels: A Case Report in a Patient Taking PCSK9 Inhibitor","authors":"D. Franco, Neelam Neupane, M. Riaz, Sanaz Mohammadzadeh, I. Sachmechi","doi":"10.14740/JNR.V9I4-5.552","DOIUrl":"https://doi.org/10.14740/JNR.V9I4-5.552","url":null,"abstract":"A 57-year-old woman with history of prediabetes and dyslipidemia treated with PCSK9 inhibitors due to statin intolerance presented to the clinic with complaints of bilateral thigh pain, weakness and numbness. During the physical exam, the patient exhibited stocking loss of vibratory and cold temperature sensation in both legs, absent ankle reflexes and tandem imbalance with normal cranial nerve functions. After all the clinical studies, the patient was diagnosed with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) as an exclusion diagnosis. A link with medications (Praluent) was determined to be the most possible offending agent. With this case, we present a rare case of CIDP in the setting of low level of low-density lipoprotein cholesterol (LDL-C) due to PCSK9 inhibitors. This case opens the door to a new and unrecognized adverse effect of this type of medication. J Neurol Res. 2019;9(4-5):72-74 doi: https://doi.org/10.14740/jnr552","PeriodicalId":16489,"journal":{"name":"Journal of Neurology Research","volume":"253 1","pages":"72-74"},"PeriodicalIF":0.0,"publicationDate":"2019-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78388202","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: Recently, optical coherence tomography (OCT) has enhanced our understanding of visual disturbances in idiopathic intracranial hypertension (IIH). Its importance in the evaluation process of IIH has been established; however, there are many unknown aspects regarding the relationship of OCT measurements with several clinical features of IIH. Herein, we aimed to investigate the associations of OCT measurements with neuroimaging findings and some clinical parameters in our cohort with IIH. Methods: Patients over 18 years of age presenting to the neurology and neuro-ophthalmology outpatient clinics, between 2017 and 2019, who were diagnosed with IIH were included in the study. Cranial magnetic resonance imaging (MRI) recordings were retrospectively evaluated for the presence of neuroimaging signs of intracranial hypertension. Peripapillary retinal nerve fiber layer (RNFL) measurements and other clinical parameters were retrospectively evaluated from the hospital recoding system. SPSS Statistics (version 20) were used for statistical analyses. Results: We have included 18 patients of IIH with a mean age of 38.6 years (range: 19 - 69 years) and female/male ratio was 17:1. Mean body mass index (BMI) of the patients was 30.5 ± 5.7 and mean lumbar puncture (LP) opening pressure was 313.8 ± 66.6 mm H 2 O. Correlation analyses between LP opening pressure and average RNFL thickness of the right eye revealed a significant positive correlation. The results of the other correlation analyses were unremarkable. Conclusions: We have found a significant correlation between LP opening pressure and RNFL thickness of the right eye. No association between RNFL measurement and MRI signs of intracranial hypertension was found. Investigating the possible associations between RNFL measurements and the clinical and neuroimaging signs in future studies may provide crucial contributions regarding the unknown aspects of IIH pathophysiology. J Neurol Res. 2019;9(4-5):65-71 doi: https://doi.org/10.14740/jnr550
背景:最近，光学相干断层扫描(OCT)提高了我们对特发性颅内高压(IIH)视觉障碍的认识。其在IIH评价过程中的重要性已经确立;然而，关于OCT测量与IIH的一些临床特征的关系，还有许多未知的方面。在此，我们的目的是研究我们的IIH队列中OCT测量与神经影像学结果和一些临床参数的关系。方法:纳入2017年至2019年期间在神经病学和神经眼科门诊就诊的18岁以上诊断为IIH的患者。回顾性评估颅磁共振成像(MRI)记录是否存在颅内高压的神经影像学征象。通过医院记录系统对乳头周围视网膜神经纤维层(RNFL)测量和其他临床参数进行回顾性评估。采用SPSS统计软件(version 20)进行统计分析。结果:我们纳入了18例IIH患者，平均年龄38.6岁(范围:19 - 69岁)，男女比例为17:1。患者平均体重指数(BMI)为30.5±5.7，平均腰椎穿刺(LP)开孔压为313.8±66.6 mm H 2 o。腰椎穿刺开孔压与右眼RNFL平均厚度呈显著正相关。其他相关分析结果均不显著。结论:我们发现右眼前睑板开口压力与前睑板厚度有显著相关性。RNFL测量与颅内高压的MRI征象没有关联。在未来的研究中，调查RNFL测量与临床和神经影像学体征之间的可能关联，可能为IIH病理生理学的未知方面提供重要贡献。中华神经科学杂志，2019;9(4-5):65-71 doi: https://doi.org/10.14740/jnr550
{"title":"The Association of Optical Coherence Tomography Results With Neuroimaging Signs and Some Clinical Parameters in Idiopathic Intracranial Hypertension","authors":"H. Onder, Erol Erkan","doi":"10.14740/jnr550","DOIUrl":"https://doi.org/10.14740/jnr550","url":null,"abstract":"Background: Recently, optical coherence tomography (OCT) has enhanced our understanding of visual disturbances in idiopathic intracranial hypertension (IIH). Its importance in the evaluation process of IIH has been established; however, there are many unknown aspects regarding the relationship of OCT measurements with several clinical features of IIH. Herein, we aimed to investigate the associations of OCT measurements with neuroimaging findings and some clinical parameters in our cohort with IIH. Methods: Patients over 18 years of age presenting to the neurology and neuro-ophthalmology outpatient clinics, between 2017 and 2019, who were diagnosed with IIH were included in the study. Cranial magnetic resonance imaging (MRI) recordings were retrospectively evaluated for the presence of neuroimaging signs of intracranial hypertension. Peripapillary retinal nerve fiber layer (RNFL) measurements and other clinical parameters were retrospectively evaluated from the hospital recoding system. SPSS Statistics (version 20) were used for statistical analyses. Results: We have included 18 patients of IIH with a mean age of 38.6 years (range: 19 - 69 years) and female/male ratio was 17:1. Mean body mass index (BMI) of the patients was 30.5 ± 5.7 and mean lumbar puncture (LP) opening pressure was 313.8 ± 66.6 mm H 2 O. Correlation analyses between LP opening pressure and average RNFL thickness of the right eye revealed a significant positive correlation. The results of the other correlation analyses were unremarkable. Conclusions: We have found a significant correlation between LP opening pressure and RNFL thickness of the right eye. No association between RNFL measurement and MRI signs of intracranial hypertension was found. Investigating the possible associations between RNFL measurements and the clinical and neuroimaging signs in future studies may provide crucial contributions regarding the unknown aspects of IIH pathophysiology. J Neurol Res. 2019;9(4-5):65-71 doi: https://doi.org/10.14740/jnr550","PeriodicalId":16489,"journal":{"name":"Journal of Neurology Research","volume":"53 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78178489","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}
A 60-year-old male patient was admitted to our clinic with symptoms of gait difficulty, urinary incontinence, and cognitive impairment which had started over the last 5 years and gradually progressed. So he had to use unilateral support for outdoor activities over the last 1-year period. Besides, he had severe symptoms of urinary incontinence and had to use underpads for a long time. Upon interrogation of medical history, it was learned that he had been hospitalized in the intensive care unit for 1 month due to post-traumatic subarachnoid hemorrhage (SAH) and right frontal hemorrhage which had occurred due to motor vehicle accident 40 years ago. At admission to our clinic, he was orientated and cooperative. However, it was noticed that the patient was uninterested to the interview and slowing in the reaction time was apparent. He was not willing to state his symptoms and rather did not speak spontaneously which was compatible with apathetic state. Neurological examinations of the pyramidal, sensory and cerebellar functions were within normal limits. However, gait was evaluated as wide-based, short-stepped, slow and shuffling. He had difficulty particularly during turning, and episodes of freezing of gait were apparent (Video images are unavailable due to technical problems). Standardized mini-mental test (SMMT) score was evaluated as 19 points. Cranial magnetic resonance imaging (MRI) showed left frontal encephalomalacia and non-obstructive hydrocephalus (Fig. 1). Taken together, normal pressure hydrocephalus was considered at the forefront, and cerebrospinal fluid (CSF) tap test (TT) was suggested. CSF opening pressure was 10 cm H2O, and 40 mL CSF was drained which provided a temporary, significant improvement in the patient’s locomotion and symptoms of urinary incontinence. Taken together, the diagnosis of secondary normal pressure hydrocephalus (sNPH) was established. The patient and his relatives were informed about the disease, and ventriculoperitoneal shunt (VP) surgery was suggested. After taking informed consent, surgery was performed. Following VP shunt, a significant recovery in the gait and cognitive symptoms were achieved. Cranial computed tomography performed 1 week after shunt surgery, showed an intact shunt (Fig. 2). On the second month of follow-up after surgery, he had no longer need for support, and all the parameters of his gait improved dramatically (Supplementary video 1, www. neurores.org). Urinary continence symptoms were nearly over. His perception and communication, as well as interest had improved significantly and he got 24 points on SMMT. Approximately, 50% of the normal pressure hydrocephalus (NPH) cases occur in association with prior events that cause the development of this syndrome [1]. In the recent crucial report by Daou et al, it was concluded that sNPH should be differentiated from idiopathic NPH (iNPH) based on outcome and on clinical, pathophysiological, and epidemiological characteristics, but should not be
一位60岁男性患者因步态困难、尿失禁、认知障碍等症状于近5年开始并逐渐恶化而入院。所以在过去的一年里，他必须使用单边支持来进行户外活动。此外，他有严重的尿失禁症状，不得不长时间使用衬垫。经询问病史得知，40年前因机动车事故造成创伤后蛛网膜下腔出血(SAH)和右额出血，曾在重症监护室住过1个月。在我们的诊所，他是有方向的和合作。然而，我们注意到病人对面试不感兴趣，反应时间明显变慢。他不愿意陈述自己的症状，更不愿意自发地说话，这与冷漠状态相一致。神经学检查锥体、感觉和小脑功能均在正常范围内。然而，步态被评估为宽基，短步，缓慢和拖沓。他有困难，特别是在转身时，步态明显冻结(由于技术问题，无法获得视频图像)。标准迷你心理测验(SMMT)得分为19分。颅脑磁共振(MRI)显示左侧额叶性脑软化，非梗阻性脑积水(图1)。综合考虑常压脑积水，建议行脑脊液(CSF) tap test (TT)。脑脊液开口压力为10 cm H2O，排出40 mL脑脊液，可暂时显著改善患者的运动和尿失禁症状。综上所述，继发性常压脑积水(sNPH)的诊断得以确立。告知患者及其亲属病情，建议行脑室-腹膜分流术(VP)。在获得知情同意后，进行手术。在静脉静脉分流术后，步态和认知症状明显恢复。在分流手术后1周进行颅脑计算机断层扫描，显示一个完整的分流(图2)。在手术后第二个月的随访中，他不再需要支持，他的步态的所有参数显著改善(补充视频1,www。neurores.org)。尿失禁的症状差不多结束了他的感知、沟通和兴趣都有了明显的提高，在SMMT上得到了24分。大约50%的正常压力性脑积水(NPH)病例与导致该综合征发展的先前事件有关。在Daou等人最近的重要报告中，他们得出结论，sNPH应根据结果以及临床、病理生理和流行病学特征与特发性NPH (iNPH)区分开来，但不应将其视为一个单独的实体[10]。其他研究也强调了sNPH患者对分流手术的更好反应(与iNPH患者相比)。sNPH的诊断是基于临床病史、体格检查和影像学检查[b]。在我们的患者中，临床表现的特点是痴呆，步态障碍和尿失禁的经典三联征。头颅MRI显示脑积水，脑脊液TT明显改善(脑脊液开口压力正常)。值得注意的是，他在40年前有创伤性SAH和实质出血的病史，但临床症状在最近5年才得到确认。考虑到创伤事件与临床症状发作之间的时间间隔较长，我们认为在这两种事件之间得出明确的因果关系可能具有挑战性。有研究表明，对于sNPH的诊断，应该有一个确定的事件来诱发NPH，临床表现通常应该在事件发生后立即或几个月开始。然而，诱导剂事件(SAH、创伤、脑膜炎、中风、肿瘤等)发生后NPH发展所需的时间尚未得到适当的确定。结合临床表现，创伤性脑损伤的病史和明确的神经影像学证据，我们确定了sNPH的最终诊断。根据文献资料，在VP分流手术后获得了显着的改善，因此在随访的第二个月确定他的步态问题完全解决。在此，我们想说明的是，在我省人口约50万的情况下，我们的诊所是一个老年中心，疑似NPH患者的比例很高
{"title":"A Dramatic Improvement by Ventriculoperitoneal Shunt Surgery in a Patient With Secondary Normal Pressure Hydrocephalus","authors":"H. Onder, Umut Doğu Aktürk","doi":"10.14740/jnr545","DOIUrl":"https://doi.org/10.14740/jnr545","url":null,"abstract":"A 60-year-old male patient was admitted to our clinic with symptoms of gait difficulty, urinary incontinence, and cognitive impairment which had started over the last 5 years and gradually progressed. So he had to use unilateral support for outdoor activities over the last 1-year period. Besides, he had severe symptoms of urinary incontinence and had to use underpads for a long time. Upon interrogation of medical history, it was learned that he had been hospitalized in the intensive care unit for 1 month due to post-traumatic subarachnoid hemorrhage (SAH) and right frontal hemorrhage which had occurred due to motor vehicle accident 40 years ago. At admission to our clinic, he was orientated and cooperative. However, it was noticed that the patient was uninterested to the interview and slowing in the reaction time was apparent. He was not willing to state his symptoms and rather did not speak spontaneously which was compatible with apathetic state. Neurological examinations of the pyramidal, sensory and cerebellar functions were within normal limits. However, gait was evaluated as wide-based, short-stepped, slow and shuffling. He had difficulty particularly during turning, and episodes of freezing of gait were apparent (Video images are unavailable due to technical problems). Standardized mini-mental test (SMMT) score was evaluated as 19 points. Cranial magnetic resonance imaging (MRI) showed left frontal encephalomalacia and non-obstructive hydrocephalus (Fig. 1). Taken together, normal pressure hydrocephalus was considered at the forefront, and cerebrospinal fluid (CSF) tap test (TT) was suggested. CSF opening pressure was 10 cm H2O, and 40 mL CSF was drained which provided a temporary, significant improvement in the patient’s locomotion and symptoms of urinary incontinence. Taken together, the diagnosis of secondary normal pressure hydrocephalus (sNPH) was established. The patient and his relatives were informed about the disease, and ventriculoperitoneal shunt (VP) surgery was suggested. After taking informed consent, surgery was performed. Following VP shunt, a significant recovery in the gait and cognitive symptoms were achieved. Cranial computed tomography performed 1 week after shunt surgery, showed an intact shunt (Fig. 2). On the second month of follow-up after surgery, he had no longer need for support, and all the parameters of his gait improved dramatically (Supplementary video 1, www. neurores.org). Urinary continence symptoms were nearly over. His perception and communication, as well as interest had improved significantly and he got 24 points on SMMT. Approximately, 50% of the normal pressure hydrocephalus (NPH) cases occur in association with prior events that cause the development of this syndrome [1]. In the recent crucial report by Daou et al, it was concluded that sNPH should be differentiated from idiopathic NPH (iNPH) based on outcome and on clinical, pathophysiological, and epidemiological characteristics, but should not be","PeriodicalId":16489,"journal":{"name":"Journal of Neurology Research","volume":"35 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81100971","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: We described an Asian Indian family with a genetic neuropathy previously in the Journal of Neurology Research, 2012. In that publication, we speculated that a deletion mutation in the PRX gene may have contributed to the development of the neuropathy. In this family, there is significant phenotypic variability which created difficulties establishing the mode of transmission which appeared to be autosomal recessive. We now present our updated analysis with additional clinical and genetic data. Methods: We obtained clinical and phenotype data on additional members of this family. We performed whole exome sequencing on the index patient and targeted genotyping of other members of the family. Results: Our updated analysis establishes the pattern of inheritance of this neuropathy as autosomal dominant and caused by a mutation in the HSPB1 gene, R140G. The R140G mutation has been previously reported in a number of unrelated families originating from Gujarat, the same Indian state as the subjects of this study. Conclusions: The collective genetic analysis of this mutation in the Gujarati families suggests the presence of a founder effect of the R140G mutation in this population. Our investigation of this family demonstrates the capacity of next generation sequencing in facilitating the ability to make a specific genetic diagnosis. J Neurol Res. 2019;9(4-5):60-64 doi: https://doi.org/10.14740/jnr547
{"title":"Update on an Asian Indian Family With Apparent Autosomal Recessive Charcot-Marie-Tooth Disease Caused by a Mutation in the HSPB1 Gene","authors":"L. R. Peddareddygari, Kinsi Oberoi, R. Grewal","doi":"10.14740/jnr547","DOIUrl":"https://doi.org/10.14740/jnr547","url":null,"abstract":"Background: We described an Asian Indian family with a genetic neuropathy previously in the Journal of Neurology Research, 2012. In that publication, we speculated that a deletion mutation in the PRX gene may have contributed to the development of the neuropathy. In this family, there is significant phenotypic variability which created difficulties establishing the mode of transmission which appeared to be autosomal recessive. We now present our updated analysis with additional clinical and genetic data. Methods: We obtained clinical and phenotype data on additional members of this family. We performed whole exome sequencing on the index patient and targeted genotyping of other members of the family. Results: Our updated analysis establishes the pattern of inheritance of this neuropathy as autosomal dominant and caused by a mutation in the HSPB1 gene, R140G. The R140G mutation has been previously reported in a number of unrelated families originating from Gujarat, the same Indian state as the subjects of this study. Conclusions: The collective genetic analysis of this mutation in the Gujarati families suggests the presence of a founder effect of the R140G mutation in this population. Our investigation of this family demonstrates the capacity of next generation sequencing in facilitating the ability to make a specific genetic diagnosis. J Neurol Res. 2019;9(4-5):60-64 doi: https://doi.org/10.14740/jnr547","PeriodicalId":16489,"journal":{"name":"Journal of Neurology Research","volume":"383 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75522568","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}
Yi Bao, Wanjuan Tang, Siqin Zhou, Ying Wang, Jing Xiao, Lei Gao, Ran An, G. Liu
Spinocerebellar ataxia (SCA) is an autosomal dominant disease with high genetic heterogeneity, which cannot be cured until now. According to clinical manifestations or genetic pathology classification, SCA types 1 to 47 have been characterized so far, and the pathogenic genes of 28 SCA types have been identified. The clinical manifestations of the disease are diverse and easy to be misdiagnosed. This study aims to describe the family characteristics, specific clinical manifestations and genotyping of SCA patients. Magnetic resonance imaging (MRI) was used to check the atrophy of the brain and spinal cord. The lumbar spondylolisthesis was examined by computed tomography (CT). The possible influencing factors were analyzed by questioning each member of the patient’s family, especially the persons with the disease, to draw the genetic genealogy. Relevant literatures were searched to compare differences in genotypes between the patient and similar clinical manifestations. Craniocerebral MRI showed that cerebellar sulcus widened and deepened, vermis atrophy; enlargement of the cistern around the brainstem; cerebral cortex atrophy, furrow, fissure widen. Lumbar CT showed L3 spondylolisthesis slightly to the right. Genetic genealogy showed that the children of the patients still had the disease, and the children of the patients without the disease were all normal, which is consistent with the autosomal dominant genetic law. Compared with the literature, the patient had the same clinical manifestations as Machado’s disease: convex eyes, dysarthria, terminal muscles atrophy, ataxia gait, weakened tendon reflex, and arched foot. The same clinical manifestations of SCA40 included ataxia, wide-based gait, poor range discrimination and rotation movement disorder, but there were also many discrepancies. The patient’s lumbar spondylolisthesis and valvular prolapse were not present in any of the previous types. In conclusion, craniocerebral MRI and gene sequencing can help distinguish and diagnosis the subtypes of SCA; whether this patient is a new subtype with lumbar spondylolisthesis and heart valve prolapse needs further study; this genealogy supports that through eugenics dominant genetic diseases being passed on to the offspring can be avoided. J Neurol Res. 2019;9(4-5):81-88 doi: https://doi.org/10.14740/jnr544
{"title":"Characteristic Analysis and Literature Review of Hereditary Spinocerebellar Ataxia With Lumbar Spondylolisthesis and Valvular Prolapse","authors":"Yi Bao, Wanjuan Tang, Siqin Zhou, Ying Wang, Jing Xiao, Lei Gao, Ran An, G. Liu","doi":"10.14740/jnr544","DOIUrl":"https://doi.org/10.14740/jnr544","url":null,"abstract":"Spinocerebellar ataxia (SCA) is an autosomal dominant disease with high genetic heterogeneity, which cannot be cured until now. According to clinical manifestations or genetic pathology classification, SCA types 1 to 47 have been characterized so far, and the pathogenic genes of 28 SCA types have been identified. The clinical manifestations of the disease are diverse and easy to be misdiagnosed. This study aims to describe the family characteristics, specific clinical manifestations and genotyping of SCA patients. Magnetic resonance imaging (MRI) was used to check the atrophy of the brain and spinal cord. The lumbar spondylolisthesis was examined by computed tomography (CT). The possible influencing factors were analyzed by questioning each member of the patient’s family, especially the persons with the disease, to draw the genetic genealogy. Relevant literatures were searched to compare differences in genotypes between the patient and similar clinical manifestations. Craniocerebral MRI showed that cerebellar sulcus widened and deepened, vermis atrophy; enlargement of the cistern around the brainstem; cerebral cortex atrophy, furrow, fissure widen. Lumbar CT showed L3 spondylolisthesis slightly to the right. Genetic genealogy showed that the children of the patients still had the disease, and the children of the patients without the disease were all normal, which is consistent with the autosomal dominant genetic law. Compared with the literature, the patient had the same clinical manifestations as Machado’s disease: convex eyes, dysarthria, terminal muscles atrophy, ataxia gait, weakened tendon reflex, and arched foot. The same clinical manifestations of SCA40 included ataxia, wide-based gait, poor range discrimination and rotation movement disorder, but there were also many discrepancies. The patient’s lumbar spondylolisthesis and valvular prolapse were not present in any of the previous types. In conclusion, craniocerebral MRI and gene sequencing can help distinguish and diagnosis the subtypes of SCA; whether this patient is a new subtype with lumbar spondylolisthesis and heart valve prolapse needs further study; this genealogy supports that through eugenics dominant genetic diseases being passed on to the offspring can be avoided. J Neurol Res. 2019;9(4-5):81-88 doi: https://doi.org/10.14740/jnr544","PeriodicalId":16489,"journal":{"name":"Journal of Neurology Research","volume":"38 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79198092","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}
H. Yacoub, K. Sivakumar, M. El‐hunjul, Chun Chu, D. Mehta
Left ventricular noncompaction (LVNC) is a rare cause of cardiomyopathy that can lead to systemic embolism and ischemic stroke. LVNC results from the arrest of ventricular myocardium compaction during embryogenesis. Multiple other cardiac complications coexist with this cardiomyopathy, and one of the potential consequences is cardioembolic events causing ischemic stroke. This condition can be underdiagnosed or misdiagnosed as hypertrophic or dilated cardiomyopathy. We report a patient who presented with recurrent embolic ischemic stroke secondary to LVNC that was overlooked on initial transthoracic echocardiographic studies. After an unremarkable laboratory workup, transesophageal echocardiogram (TEE) revealed noncompaction of the myocardium within the apex of the left ventricle, confirmed by cardiac magnetic resonance imaging (MRI). The patient was anticoagulated with warfarin and discharged to a rehabilitation facility. Increased understanding and awareness of the diagnosis, clinical manifestations, and management of LVNC are advised, particularly in patients with recurrent embolic stroke of undetermined source. Screening of all first-degree relatives with this familial condition is recommended as well, as appropriate treatment can prevent cardiac complications and sudden death. J Neurol Res. 2019;9(4-5):75-80 doi: https://doi.org/10.14740/jnr553
{"title":"Ischemic Stroke Secondary to Left Ventricular Noncompaction","authors":"H. Yacoub, K. Sivakumar, M. El‐hunjul, Chun Chu, D. Mehta","doi":"10.14740/jnr553","DOIUrl":"https://doi.org/10.14740/jnr553","url":null,"abstract":"Left ventricular noncompaction (LVNC) is a rare cause of cardiomyopathy that can lead to systemic embolism and ischemic stroke. LVNC results from the arrest of ventricular myocardium compaction during embryogenesis. Multiple other cardiac complications coexist with this cardiomyopathy, and one of the potential consequences is cardioembolic events causing ischemic stroke. This condition can be underdiagnosed or misdiagnosed as hypertrophic or dilated cardiomyopathy. We report a patient who presented with recurrent embolic ischemic stroke secondary to LVNC that was overlooked on initial transthoracic echocardiographic studies. After an unremarkable laboratory workup, transesophageal echocardiogram (TEE) revealed noncompaction of the myocardium within the apex of the left ventricle, confirmed by cardiac magnetic resonance imaging (MRI). The patient was anticoagulated with warfarin and discharged to a rehabilitation facility. Increased understanding and awareness of the diagnosis, clinical manifestations, and management of LVNC are advised, particularly in patients with recurrent embolic stroke of undetermined source. Screening of all first-degree relatives with this familial condition is recommended as well, as appropriate treatment can prevent cardiac complications and sudden death. J Neurol Res. 2019;9(4-5):75-80 doi: https://doi.org/10.14740/jnr553","PeriodicalId":16489,"journal":{"name":"Journal of Neurology Research","volume":"14 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81047970","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}
Yi Bao, Xinyu Du, Miao Zhang, Ran An, Jing Xiao, Xiaodong Liu, G. Liu
Ischemic stroke often occurs in middle-aged and elderly people, leading to brain tissue ischemia, hypoxia and necrosis. The clinical manifestations are a series of neurological deficits, such as aphasia, hemiplegia and disturbance of consciousness, with high morbidity, mortality, disability rate, recurrence rate and multiple complications. This article aims to review current treatment advances, analyze current challenges and propose coping strategies. The literature on stroke treatment and the latest technological progress were reviewed. Combined with clinical and epidemiological to analyze the current challenges, the coping strategies were proposed before, during and after thrombolysis. Early intravenous thrombolysis and bridging treatment can restore blood perfusion in time and save the ischemic penumbra of brain tissue. However, the current proportion of patients receiving thrombolytic therapy is very low. The main challenges are as follows: easy to miss the time window, door-to-needle time is too long and there is a lack of understanding of the safety and efficacy of thrombolysis, especially the hemorrhagic transformation. A clinical decision-making system is established for stroke rescue by improving the popularization rate of stroke thrombolytic therapy, optimizing the green channel process of stroke and improving the executive ability of clinicians, to shorten the rescue time. Advanced imaging techniques are used to identify potential patients for thrombolysis. Acute intravascular bridge therapy is used to improve the efficacy of thrombolysis. Screening before thrombolysis, timely thrombolytic therapy, re-examination after thrombolysis and active response to hemorrhagic transformation can effectively improve the safety and acceptability of treatment. J Neurol Res. 2019;9(4-5):51-59 doi: https://doi.org/10.14740/jnr541
{"title":"Progress in the Treatment of Acute Ischemic Stroke, Current Challenges and the Establishment of Clinical Decision-Making System","authors":"Yi Bao, Xinyu Du, Miao Zhang, Ran An, Jing Xiao, Xiaodong Liu, G. Liu","doi":"10.14740/jnr541","DOIUrl":"https://doi.org/10.14740/jnr541","url":null,"abstract":"Ischemic stroke often occurs in middle-aged and elderly people, leading to brain tissue ischemia, hypoxia and necrosis. The clinical manifestations are a series of neurological deficits, such as aphasia, hemiplegia and disturbance of consciousness, with high morbidity, mortality, disability rate, recurrence rate and multiple complications. This article aims to review current treatment advances, analyze current challenges and propose coping strategies. The literature on stroke treatment and the latest technological progress were reviewed. Combined with clinical and epidemiological to analyze the current challenges, the coping strategies were proposed before, during and after thrombolysis. Early intravenous thrombolysis and bridging treatment can restore blood perfusion in time and save the ischemic penumbra of brain tissue. However, the current proportion of patients receiving thrombolytic therapy is very low. The main challenges are as follows: easy to miss the time window, door-to-needle time is too long and there is a lack of understanding of the safety and efficacy of thrombolysis, especially the hemorrhagic transformation. A clinical decision-making system is established for stroke rescue by improving the popularization rate of stroke thrombolytic therapy, optimizing the green channel process of stroke and improving the executive ability of clinicians, to shorten the rescue time. Advanced imaging techniques are used to identify potential patients for thrombolysis. Acute intravascular bridge therapy is used to improve the efficacy of thrombolysis. Screening before thrombolysis, timely thrombolytic therapy, re-examination after thrombolysis and active response to hemorrhagic transformation can effectively improve the safety and acceptability of treatment. J Neurol Res. 2019;9(4-5):51-59 doi: https://doi.org/10.14740/jnr541","PeriodicalId":16489,"journal":{"name":"Journal of Neurology Research","volume":"25 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82801762","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}
A 37-year-old male patient with a history of surgical resection of diffuse astrocytoma right frontoparietal lobe was admitted to our policlinic due to complex partial seizures characterized by focal convulsions on the right hand. Seizures were in the form of convulsions of right hand following a sensation-like ringing in the left ear and were generally lasting for a few minutes resulting in postictal confusion. His seizures had started a few months prior to the diagnosis of astrocytoma 4 months ago. Successful resective surgery was performed and postoperative radiotherapy (1 month after the diagnosis of tumor) was administered. However, he had been having seizures nearly twice a week despite taking the anti-epileptic medication of topiramate 300 mg daily. On neurological examination, he was fully orientated and cooperated. Motor, sensory and cerebellar examinations were within normal limits. Deep tendon reflexes were evaluated as moderately brisk on the left side. Routine electroencephalogram (EEG) showed right centro-parietal paroxysmal disturbances characterized by sharp and slow waves (Fig. 1). Imaging (Fig. 2a, b) and electrophysiological evidence remarked an underlying right hemisphere focus; however, in contrary to this, he suffered from motor seizures of right hand constantly. At this point, to evaluate a possible variation in corticospinal tracts, diffusion tensor imaging (DTI) was performed which demonstrated bilateral corticospinal tracts with normal crossing at the decussation (Fig. 2c). Carbamazepine 600 mg daily was added to the treatment regimen which provided a significant improvement in seizures and the patient was evaluated as seizure-free on the third month of follow-up. Ipsilateral seizures have been reported very rarely in the literature [1, 2]. In these reports, pathophysiological explanations such as possible anatomical variations in the crossing of pyramidal fibers, one dominant cerebral hemisphere taking over the function of both sides of the body and colosally mediated inhibitory system over the uncrossed pyramidal fibers have been suggested [1]. In our patient, EEG showed epileptiform discharges in the lesional hemisphere. On the other hand, DTI showed normal crossing of bilateral corticospinal tract at the decussation which suggested mechanisms other than variations in the crossing of pyramidal fibers. In the interesting report by Kim et al, the ipsilateral motor pathway from the unaffected motor cortex to the affected hand was demonstrated by transcranial magnetic stimulation (TMS) method [3]. They remarked the ipsilateral motor pathway as an important mechanism in terms of stroke rehabilitation. They also discussed the possible role of the ipsilateral corticospinal tract and non-corticospinal tract in this finding of ipsilateral motor responses determined in the TMS studies. However, the role of ipsilateral motor activity in the control of upper extremity movements remains controversial [4]. Although there are evidenc
{"title":"Detailed Illustration of a Patient With Ipsilateral Seizures","authors":"H. Onder, F. Tezer","doi":"10.14740/JNR.V9I3.526","DOIUrl":"https://doi.org/10.14740/JNR.V9I3.526","url":null,"abstract":"A 37-year-old male patient with a history of surgical resection of diffuse astrocytoma right frontoparietal lobe was admitted to our policlinic due to complex partial seizures characterized by focal convulsions on the right hand. Seizures were in the form of convulsions of right hand following a sensation-like ringing in the left ear and were generally lasting for a few minutes resulting in postictal confusion. His seizures had started a few months prior to the diagnosis of astrocytoma 4 months ago. Successful resective surgery was performed and postoperative radiotherapy (1 month after the diagnosis of tumor) was administered. However, he had been having seizures nearly twice a week despite taking the anti-epileptic medication of topiramate 300 mg daily. On neurological examination, he was fully orientated and cooperated. Motor, sensory and cerebellar examinations were within normal limits. Deep tendon reflexes were evaluated as moderately brisk on the left side. Routine electroencephalogram (EEG) showed right centro-parietal paroxysmal disturbances characterized by sharp and slow waves (Fig. 1). Imaging (Fig. 2a, b) and electrophysiological evidence remarked an underlying right hemisphere focus; however, in contrary to this, he suffered from motor seizures of right hand constantly. At this point, to evaluate a possible variation in corticospinal tracts, diffusion tensor imaging (DTI) was performed which demonstrated bilateral corticospinal tracts with normal crossing at the decussation (Fig. 2c). Carbamazepine 600 mg daily was added to the treatment regimen which provided a significant improvement in seizures and the patient was evaluated as seizure-free on the third month of follow-up. Ipsilateral seizures have been reported very rarely in the literature [1, 2]. In these reports, pathophysiological explanations such as possible anatomical variations in the crossing of pyramidal fibers, one dominant cerebral hemisphere taking over the function of both sides of the body and colosally mediated inhibitory system over the uncrossed pyramidal fibers have been suggested [1]. In our patient, EEG showed epileptiform discharges in the lesional hemisphere. On the other hand, DTI showed normal crossing of bilateral corticospinal tract at the decussation which suggested mechanisms other than variations in the crossing of pyramidal fibers. In the interesting report by Kim et al, the ipsilateral motor pathway from the unaffected motor cortex to the affected hand was demonstrated by transcranial magnetic stimulation (TMS) method [3]. They remarked the ipsilateral motor pathway as an important mechanism in terms of stroke rehabilitation. They also discussed the possible role of the ipsilateral corticospinal tract and non-corticospinal tract in this finding of ipsilateral motor responses determined in the TMS studies. However, the role of ipsilateral motor activity in the control of upper extremity movements remains controversial [4]. Although there are evidenc","PeriodicalId":16489,"journal":{"name":"Journal of Neurology Research","volume":"94 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82101954","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}
Idiopathic intracranial hypertension (IIH) is commonly seen related to iatrogenic causes such as excess retinol, tetracyclines, and amiodarone. We report a case of IIH likely related to mesalamine use. A 63-year-old woman presented with transient episodes of diplopia and headaches. She was diagnosed with irritable bowel syndrome and started on mesalamine 8 months prior. Her neurologic examination was significant for papilledema and bilateral partial abducens nerve palsies. Her opening pressure was 27 cm H 2 O. Discontinuation of mesalamine in conjunction with acetazolamide correlated with improvement of her papilledema and diplopia. At 6-month follow-up, she still remained asymptomatic. IIH is likely a rare side effect of mesalamine use likely related to 5-aminosalycilate use. This class of medication typically causes headache so this is likely a more complex version. The mechanism of how this occurs is largely unknown. Patients presenting with new onset headache or diplopia acutely or chronically on mesalamine should have ophthalmologic evaluation urgently to evaluate for IIH. J Neurol Res. 2019;9(3):39-40 doi: https://doi.org/10.14740/jnr537
{"title":"Idiopathic Intracranial Hypertension Related to Chronic Use of Mesalamine: A Case Report and Literature Review","authors":"D. Mehta, M. El‐hunjul, H. Yacoub","doi":"10.14740/JNR.V9I3.537","DOIUrl":"https://doi.org/10.14740/JNR.V9I3.537","url":null,"abstract":"Idiopathic intracranial hypertension (IIH) is commonly seen related to iatrogenic causes such as excess retinol, tetracyclines, and amiodarone. We report a case of IIH likely related to mesalamine use. A 63-year-old woman presented with transient episodes of diplopia and headaches. She was diagnosed with irritable bowel syndrome and started on mesalamine 8 months prior. Her neurologic examination was significant for papilledema and bilateral partial abducens nerve palsies. Her opening pressure was 27 cm H 2 O. Discontinuation of mesalamine in conjunction with acetazolamide correlated with improvement of her papilledema and diplopia. At 6-month follow-up, she still remained asymptomatic. IIH is likely a rare side effect of mesalamine use likely related to 5-aminosalycilate use. This class of medication typically causes headache so this is likely a more complex version. The mechanism of how this occurs is largely unknown. Patients presenting with new onset headache or diplopia acutely or chronically on mesalamine should have ophthalmologic evaluation urgently to evaluate for IIH. J Neurol Res. 2019;9(3):39-40 doi: https://doi.org/10.14740/jnr537","PeriodicalId":16489,"journal":{"name":"Journal of Neurology Research","volume":"8 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89775799","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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