Journal of neurological research and therapy最新文献

Tay-Sachs Disease: From Molecular Characterization to Ethical Quandaries and the Possibility of Genetic Medicine Tay-Sachs病：从分子表征到伦理量子和基因医学的可能性

Journal of neurological research and therapy Pub Date : 2022-06-09 DOI: 10.14302/issn.2470-5020.jnrt-22-4217

Jessica F. Smith, J. O. Henderson

{"title":"Tay-Sachs Disease: From Molecular Characterization to Ethical Quandaries and the Possibility of Genetic Medicine","authors":"Jessica F. Smith, J. O. Henderson","doi":"10.14302/issn.2470-5020.jnrt-22-4217","DOIUrl":"https://doi.org/10.14302/issn.2470-5020.jnrt-22-4217","url":null,"abstract":"Tay-Sachs disease (TSD) is a rare neurodegenerative disorder caused by mutations in the HEXA gene, which encodes the ɑ subunit of the enzyme β-hexosaminidase A. Lacking this key enzyme in GM2 ganglioside catabolism, individuals who are homozygous for HEXA mutations suffer from abnormal accumulation of GM2 ganglioside in brain and nerve cells, ultimately resulting in the progressive deterioration of the central nervous system. TSD is one of three disorders characterized by β-hexosaminidase deficiency; Sandhoff disease (SD) and the AB variant arise by mutations in the HEXB and GM2A genes respectively, which disrupt other points of GM2 ganglioside degradation. Characterized by developmental delay and stagnation, muscular weakness, coordination deficits, seizures, and eventual hearing and vision loss, these three disorders are clinically indistinguishable and occur in three forms defined by age of onset. While there is a much higher incidence of TSD in the Ashkenazi Jewish population, community carrier screening and counseling initiatives have reduced disease prevalence to about the equivalent of non-Jewish populations; however, such efforts have raised ethical concerns in the Jewish community that are increasingly relevant in light of scientific and medical advancements. Currently, treatments for TSD and its related disorders focus on symptom management, with gene therapies and the application of modified CRISPR-Cas-9 technology being explored.","PeriodicalId":91754,"journal":{"name":"Journal of neurological research and therapy","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44030291","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}

引用次数: 0

Fragiles but Resilient. The Key Strategies to Cope with Pandemic in Persons with Multiple Sclerosis. A Controlled Web Survey 脆弱但坚韧。应对多发性硬化症患者流行病的关键策略。一项受控的网络调查

Journal of neurological research and therapy Pub Date : 2022-06-01 DOI: 10.14302/issn.2470-5020.jnrt-22-4106

A. Sgoifo, Maria Raffaella Marazzi, Emanuela Laura Susani, L. Saraceno, M. G. Esposito, Concetta Campagna, E. Agostoni, A. Protti

{"title":"Fragiles but Resilient. The Key Strategies to Cope with Pandemic in Persons with Multiple Sclerosis. A Controlled Web Survey","authors":"A. Sgoifo, Maria Raffaella Marazzi, Emanuela Laura Susani, L. Saraceno, M. G. Esposito, Concetta Campagna, E. Agostoni, A. Protti","doi":"10.14302/issn.2470-5020.jnrt-22-4106","DOIUrl":"https://doi.org/10.14302/issn.2470-5020.jnrt-22-4106","url":null,"abstract":"Background\u0000SARS-CoV-2 pandemic represented an unexpected psychological stress, being a major threat to health and limiting daily’s life, especially for the fragile population. How could the people with (pw) Multiple Sclerosis (MS) cope with this emergency?\u0000\u0000Objective\u0000To observe the pwMS’s psychological reaction in comparison with non affected persons and to evaluate the impact of lifestyle changes on psychological symptoms, due to the pandemic.\u0000\u0000Methods\u0000The study was observational, retrospective, controlled, focused on good clinical practice and conducted at Niguarda Hospital. PwMS and controls filled a web survey containing anamnestic data, habits, depression and anxiety self-questionnaires. The primary outcome was the pwMS’s psychological anxiety and depression score compared with controls.\u0000\u0000Results\u0000On April, 10 2020, 88/165 pwMS and 187 controls joined the study. Unexpectedly, no significant differences between groups were observed for depression mean score: 6.6(5.2) in pwMS and 6.2(4.8) in controls and for anxiety: 5.9(4.8) and 5.0(4.2). PwMS focused on health concern more often than controls, but they respected the restrictions more easily and benefited from practical activities more than controls.\u0000\u0000Conclusion\u0000PwMS showed a proper psychological resilience in comparison with controls. These findings might guide the clinical interviews and suggest both the areas to be supported and the strengths to be promoted in pwMS.","PeriodicalId":91754,"journal":{"name":"Journal of neurological research and therapy","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47406965","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}

引用次数: 0

Post-Covid-19 Acute Disseminated Encephalomyelitis (ADEM) in a 27-year-old girl: Case Report 一例27岁女孩19岁后急性弥漫性脑脊髓炎（ADEM）病例报告

Journal of neurological research and therapy Pub Date : 2022-02-23 DOI: 10.14302/issn.2470-5020.jnrt-22-4092

Heinzlef Olivier, Yaïche Hugo, AWIDINA-AMA Awissoba, Soro Donissongui, Agba Léhleng, Agba Léhleng

{"title":"Post-Covid-19 Acute Disseminated Encephalomyelitis (ADEM) in a 27-year-old girl: Case Report","authors":"Heinzlef Olivier, Yaïche Hugo, AWIDINA-AMA Awissoba, Soro Donissongui, Agba Léhleng, Agba Léhleng","doi":"10.14302/issn.2470-5020.jnrt-22-4092","DOIUrl":"https://doi.org/10.14302/issn.2470-5020.jnrt-22-4092","url":null,"abstract":"Acute disseminated encephalomyelitis (ADEM) is a monophasic, multifocal, demyelinating, autoimmune disease that affects the central nervous system (CNS). It usually occurs after a systemic infection, usually viral, including certain coronavirus infections. A 27-year-old girl presented with complaints of left interscapular pain, paresthesias and weakness in the ipsilateral upper limb. These symptoms followed paresthesias on the fingertips of her right hand the day before her admission. she was treated two weeks earlier for pneumonia with COVID-19. Her clinical pattern resulted in a moderate weakness of the left limbs associated with tactil and algic hypoesthesia in the lower left limb ascending until the C4 level in the left side. Magnetic resonance imaging (MRI) of the brain and spinal cord showed diffuse spontaneous hypersignals on fluid-attenuated inversion recovery (FLAIR) images at the cerebral level and on T2-weighted images at the spinal level. These imaging lesions coupled with the medical history of a recent COVID-19 infection led to the diagnosis of acute disseminated encephalomyelitis (ADEM) post covid-19. The clinical condition improved rapidly with intravenous (IV) corticosteroid therapy and IV immunoglobulin combined with physiotherapy. ADEM is a demyelinating autoimmune disease which is increasingly reported during this current corona virus pandemic.","PeriodicalId":91754,"journal":{"name":"Journal of neurological research and therapy","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43810308","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}

引用次数: 0

Embolization for Perimedullary Arteriovenous Fistulae: Pioneering Experience in Peru 栓塞治疗髓周动静脉瘘：秘鲁的开创性经验

Journal of neurological research and therapy Pub Date : 2021-05-22 DOI: 10.14302/issn.2470-5020.jnrt-21-3843

A. Plasencia, Frank Solis, A. Santillan

引用次数: 0

A Summary of Circular RNAs in Alzheimer's Disease 阿尔茨海默病环状rna研究综述

Journal of neurological research and therapy Pub Date : 2021-01-15 DOI: 10.14302/issn.2470-5020.jnrt-20-3619

Rui Xiao, Hong Wu, Keping Chen

{"title":"A Summary of Circular RNAs in Alzheimer's Disease","authors":"Rui Xiao, Hong Wu, Keping Chen","doi":"10.14302/issn.2470-5020.jnrt-20-3619","DOIUrl":"https://doi.org/10.14302/issn.2470-5020.jnrt-20-3619","url":null,"abstract":"Circular RNAs (circRNAs) are recently rediscovered eukaryotic molecules that form a covalently closed-loop structure through a special type of alternative splicing known as backsplicing. These closed-loop structures are highly stable and resistant to RNase degradation, and are thereby expressed in a tissue-specific and evolutionarily conserved manner, which regulates the expression of proteins and mRNAs that are involved in the metabolic pathways associated with specific diseases. Recent evidence of the ubiquitous expression of circRNAs in cancer under physiological and pathophysiological conditions indicates that dysregulation of gene and protein expression might promote tumorigenesis and carcinogenesis, and that circRNAs have important clinical significance in the diagnosis, treatment, and prognosis of cancer and other diseases. This review provides a brief introduction to the characteristics, formation, and function of circRNAs. Some of circRNAs act as microRNA (miRNA) sponges to regulate the level of transcriptional splicing and the expression of parental genes through the circRNA-miRNA-mRNA regulation axis. We summarize recent progress in above-mentioned circRNAs associated with Alzheimer's disease (AD).","PeriodicalId":91754,"journal":{"name":"Journal of neurological research and therapy","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42256227","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}

引用次数: 0

Favourable Outcome in Pediatric Neurosurgery for Extra Dural Hematoma in Sub Sahara Africa: Report of Parakou University Hospital in the Benin Republic 撒哈拉以南非洲硬膜外血肿儿童神经外科治疗的有利结果:贝宁共和国Parakou大学医院的报告

Journal of neurological research and therapy Pub Date : 2020-12-19 DOI: 10.14302/ISSN.2470-5020.JNRT-20-3629

Quenum K, Fatigba Oh, Houndje Yp, Tchegnonsi C, Alihonou T, Guedjo Wa

{"title":"Favourable Outcome in Pediatric Neurosurgery for Extra Dural Hematoma in Sub Sahara Africa: Report of Parakou University Hospital in the Benin Republic","authors":"Quenum K, Fatigba Oh, Houndje Yp, Tchegnonsi C, Alihonou T, Guedjo Wa","doi":"10.14302/ISSN.2470-5020.JNRT-20-3629","DOIUrl":"https://doi.org/10.14302/ISSN.2470-5020.JNRT-20-3629","url":null,"abstract":"Introduction\u0000The extra dural hematoma is a blood collection between the cranial vault and the dura mater. It is a neurosurgical emergency whose statistical data are poorly known in the Republic of Benin.\u0000\u0000Objective\u0000The aims of this study are to assess epidemiology, therapeutic and outcome of traumatic extra dural hematomas for children admitted to the surgical department of CHUD-B/A from 2012 to 2017.\u0000\u0000Methods\u0000This was a cross-sectional, descriptive and retrospective study over a period from January 1st, 2012 to December 31st, 2017.\u0000\u0000Results\u0000One hundred and seventy-eight cases of children aged between 0-15 years were examined for brain traumatic injury. Twenty-seven 27 (15.2%) cases of extra dural hematomas were retained. The most represented age group was between 11-15 years with a frequency of 42.1%. The male sex was more represented (78.9%). Road traffic accidents were the main aetiology (57.9%). 52.6% had a mild head injury, 26.3% had a moderate head injury and 21.1% had a severe head injury. On brain scan the frequently observed location was temporo-parietal (31.6%). Acute anemia was observed in 16 children. Seventeen children were operated on. The operation involved evacuation of extra dural hematoma by cranial bone flap with suspension of the dura mater. There were no deaths.\u0000\u0000Conclusion\u0000The availability of brain CT makes the diagnosis of extra dural hematoma easier. Its management is neurosurgical with a favourable post-operative evolution in all cases in this series.","PeriodicalId":91754,"journal":{"name":"Journal of neurological research and therapy","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44147864","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}

引用次数: 0

Neuroscience Theories, Hypothesis and Approaches to ASD Physiopathology. A Review ASD生理病理学的神经科学理论、假设和方法。综述

Journal of neurological research and therapy Pub Date : 2019-08-29 DOI: 10.14302/issn.2470-5020.jnrt-19-2974

Castejón Oj

引用次数: 0

A Meningeal Syndrome Revealing A Tetanus in A Togolese: Case Report and Review of the Literature 一例多哥人患破伤风的脑膜综合征:病例报告及文献回顾

Journal of neurological research and therapy Pub Date : 2019-08-26 DOI: 10.14302/ISSN.2470-5020.JNRT-19-2983

Agba Léhleng, Anayo K Nyinèvi, Djalogue Lihanimpo, Guinhouya Kokou Mensah, AWIDINA-AMA Awissoba, Apetsè Kossivi, Kumako V. Kodzo, Kombate Damelan, Bélo Mofou, B. Agnon

{"title":"A Meningeal Syndrome Revealing A Tetanus in A Togolese: Case Report and Review of the Literature","authors":"Agba Léhleng, Anayo K Nyinèvi, Djalogue Lihanimpo, Guinhouya Kokou Mensah, AWIDINA-AMA Awissoba, Apetsè Kossivi, Kumako V. Kodzo, Kombate Damelan, Bélo Mofou, B. Agnon","doi":"10.14302/ISSN.2470-5020.JNRT-19-2983","DOIUrl":"https://doi.org/10.14302/ISSN.2470-5020.JNRT-19-2983","url":null,"abstract":"Although it is a vaccine-preventable disease, tetanus is frequently found in sub-Saharan Africa. Because of its rarity, this disease poses two problems for doctors of the 21st century: to make early diagnosis in order to refer patients to appropriate care structures, and to continue to ensure correct prevention of an affection that few current doctors have met. In it generalized form, the diagnosis of tetanus is easy, but when the beginning is localized, tetanus can be change with other diseases leading to a diagnostic wandering and a delay of adequate management. We report a case of tetanus in an 18-year-old male, who was received for neck pain and stiffness of the neck with a positive Kernig sign associated to fever since 48 hours. Initially treated for meningitis, the patient will develop at day 3 of hospitalization, the signs of generalized tetanus which led to evoked the diagnosis of tetanus. This diagnosis was reinforced by the notion of a rusty nail injury to the soles of the right foot 3 weeks before hospitalization and the absence of anti-tetanus vaccination. After using tetanus serum and vaccination with antibiotics (Metronidazole and Penicillin) and Diazepam in association with stripping of the wound under the foot, the patient was improved. This case illustrates that any neurological sign with the first trismus must evoke until proof of the contrary, a tetanus especially in case of association with a wound even if the immunization schedule is up to date.","PeriodicalId":91754,"journal":{"name":"Journal of neurological research and therapy","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67004993","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}

引用次数: 0

Ultraviolet B Phototherapy Intervention in Patients with Multiple Sclerosis: A Prospective, Randomized Pilot Trial 紫外线B光疗干预多发性硬化症患者:一项前瞻性，随机试点试验

Journal of neurological research and therapy Pub Date : 2019-08-12 DOI: 10.14302/ISSN.2470-5020.JNRT-19-2797

R. Motl, G. Niemiro, M. Lisio, Sarah K Sommer, Barry J. Riskin, C. Best-Popescu

{"title":"Ultraviolet B Phototherapy Intervention in Patients with Multiple Sclerosis: A Prospective, Randomized Pilot Trial","authors":"R. Motl, G. Niemiro, M. Lisio, Sarah K Sommer, Barry J. Riskin, C. Best-Popescu","doi":"10.14302/ISSN.2470-5020.JNRT-19-2797","DOIUrl":"https://doi.org/10.14302/ISSN.2470-5020.JNRT-19-2797","url":null,"abstract":"Background\u0000There is substantial evidence, from well-conducted epidemiological studies, that low vitamin D levels are correlated with increased risk for MS, and multiple case control studies have implicated the involvement of vitamin D deficiency in MS etiology. Narrow-band Ultraviolet B (NB-UVB; 300nm - 311 nm) induced vitamin D production has not previously been studied in a multiple sclerosis (MS) randomized placebo-controlled trial (RCT).\u0000\u0000Objectives\u0000To investigate NB-UVB induced vitamin D production, immunomodulation and MS symptomology following NB-UVB phototherapy in a MS cohort.\u0000\u0000Methods\u0000Using a blinded RCT study design, twelve individuals 18 years or older with MS were enrolled and assigned (1:1) into individualized NB-UVB dose (10-30kJ/m) phototherapy, or into placebo treatment, delivered 3 times per week, for 8-weeks. Serum vitamin D levels, walking performance, strength, cognitive function, mood and circulating progenitor cells (CPCs: CD34+CD45dim), monocyte populations (Intermediate CD14+CD16+, Classical CD14+CD16-), and T regulatory cell (CD4+/CD25+/FoxP3+Tregs) count were assesed. The data were analyzed by 2 x 3 mixed factor ANOVA. \u0000\u0000Results\u0000A statistically significant condition by time interaction on vitamin D levels (F=7.14, p<.005, partial η2=.42) was identified. NB-UVB phototherapy may provide immunomodulation in a select group of MS individuals.\u0000\u0000Conclusion\u0000UVB phototherapy corrects vitamin D deficiency. This study adds to the growing research investigating UVB treatment in MS.","PeriodicalId":91754,"journal":{"name":"Journal of neurological research and therapy","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43110519","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}

引用次数: 0

Reduction of Side Effects by Segmented Electrodes in Case of Subthalamic Nucleus Deep Brain Stimulation in Parkinson Disease: A Case Report. 节段电极减少帕金森病丘脑下核深部脑刺激的副作用:1例报告。

Journal of neurological research and therapy Pub Date : 2019-03-01 DOI: 10.14302/ISSN.2470-5020.JNRT-19-2630

F. Schwarm, I. Reuter, M. Swoboda, E. Uhl, M. Kolodziej

{"title":"Reduction of Side Effects by Segmented Electrodes in Case of Subthalamic Nucleus Deep Brain Stimulation in Parkinson Disease: A Case Report.","authors":"F. Schwarm, I. Reuter, M. Swoboda, E. Uhl, M. Kolodziej","doi":"10.14302/ISSN.2470-5020.JNRT-19-2630","DOIUrl":"https://doi.org/10.14302/ISSN.2470-5020.JNRT-19-2630","url":null,"abstract":"Patients suffering treatment resistant Parkinson´s disease (PD) are potential candidates for deep brain stimulation (DBS). Commonly most implanted electrodes have a cylindrical shape with quadripolar electrode contacts and generate a symmetrical stimulation field around the lead. To reduce side effects through activation of neighboring fibers a new electrode design with segmented contacts was developed and enables a better adaption of the field of stimulation as well as a multi-target stimulation to improve therapeutic benefits.\u0000\u0000We report about a 51-year-old male patient with a 15-year history of treatment-refractory PD, who was implanted with bilateral segmented electrodes in the subthalamic nucleus (STN) with St. Jude Medical Infinity™ DBS System (Abbott/St. Jude Medical, Saint Paul, Minnesota, USA). Despite a clear mood-enhancing effect, stimulation with ring electrodes caused motor side effects including rigor and speech disorder. With segmented electrodes an effective and gentle stimulation was achieved. The stimulation of the anterior segments in the central position of the electrode in the STN showed no side-effects and allowed a reduction of initial symptoms in an low stimulation amplitude.\u0000\u0000Despite precise preoperatively planning and intraoperative trial stimulation, side effects of STN stimulation are very common. The application of segmented electrodes permits more options to reduce side effects rather than using ring electrodes. Studies with larger samples sizes are needed to establish the optional DBS electrode.","PeriodicalId":91754,"journal":{"name":"Journal of neurological research and therapy","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41903758","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}

引用次数: 0