Austin Journal of Neurological Disorders & Epilepsy最新文献

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Identification of Novel UBE3A Mutation Causing Angelman Syndrome 致天使人综合征的新型UBE3A突变的鉴定

Austin Journal of Neurological Disorders & Epilepsy Pub Date : 2021-09-18 DOI: 10.26420/austinjneuroldisordepilepsy.2021.1047

Taghizadeh Ma, Anvari Sa, Eshaghkhani Ye, G. Za, Taheri Sr, Keramatipour Mo

{"title":"Identification of Novel UBE3A Mutation Causing Angelman Syndrome","authors":"Taghizadeh Ma, Anvari Sa, Eshaghkhani Ye, G. Za, Taheri Sr, Keramatipour Mo","doi":"10.26420/austinjneuroldisordepilepsy.2021.1047","DOIUrl":"https://doi.org/10.26420/austinjneuroldisordepilepsy.2021.1047","url":null,"abstract":"The Angelman Syndrome (AS) is neurodevelopmental disease associated with maternal disruption of the UBE3A gene and is mainly characterized by global developmental delay, sever mental retardation with absence of speech, seizures, dysmorphic facial features, and distinct behavioral profile. In this study a pedigree with one affected member with neurodevelopmental disease who was a result of an unconsanguineous marriage were investigated by Whole Exome Sequencing (WES). DNA was extracted from whole blood and library was prepared using Agilent V6 capturing system. WES was performed on Illumina HiSeq 4000 platform. Genome Analysis Toolkit (GATK) was used for variant calling. Classification of selected variants was done based on ACMG guideline for variant interpretation 2015. WES revealed that the proband has previously unreported nonsense variant (c.2459T>G) in UBE3A gene that causes the substitution of Leu (TTA) with stop codon (TGA), confirming the diagnosis of Angelman syndrome. The patient had delayed motor development, speech impairment, an attention deficit, and an abnormal electroencephalogram (EEG), but no seizures by the age of 2 years. This study emphasis the role of WES in the early diagnosis and better management for AS patient.","PeriodicalId":205607,"journal":{"name":"Austin Journal of Neurological Disorders & Epilepsy","volume":"21 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127294489","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

Neurological Manifestations of Patients Infected with COVID-19: A Systematic Review COVID-19感染患者的神经学表现:一项系统综述

Austin Journal of Neurological Disorders & Epilepsy Pub Date : 2021-07-16 DOI: 10.26420/austinjneuroldisordepilepsy.2021.1046

N. Jafari, N. Khoshghamat, Ghaderi Ms, S. Yazdani, A. Sepehrinezhad, E. Saburi, Hajali, S. SahabNegah

{"title":"Neurological Manifestations of Patients Infected with COVID-19: A Systematic Review","authors":"N. Jafari, N. Khoshghamat, Ghaderi Ms, S. Yazdani, A. Sepehrinezhad, E. Saburi, Hajali, S. SahabNegah","doi":"10.26420/austinjneuroldisordepilepsy.2021.1046","DOIUrl":"https://doi.org/10.26420/austinjneuroldisordepilepsy.2021.1046","url":null,"abstract":"In the light of the recent evidence, neurological manifestations have been reported in patients infected with Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2). To shed light on a clear-cut explanation of neurological complications followed by SARS-CoV-2, a systematic analysis was reviewed. To this point, general medical databases, such as PubMed, Scopus, and Google Scholar from January 1, 2020, to September 20, 2020, were systematically searched to find related published articles. Through the search strategy, 93 studies for qualitative synthesis were included. Finally, the available data of 8,753 hospitalized patients with coronavirus disease 2019 (COVID-19) showed that the most prevalent Central Nervous System (CNS) manifestations of COVID-19 were headache (1137 cases, 18%) and dizziness (142 cases, 2%). On the other hand, some peripheral nervous system (PNS) symptoms were muscle pain (3300 cases, 53%), hypogeusia (646 cases, 11%), anosmia (545 cases, 9%), and hyposmia (379 cases, 6%). Furthermore, a small proportion of patients had ageusia (74 cases, 1%), cerebrovascular disorders (66 cases, 0.75%), and impaired consciousness (21 cases, 0.2%). Besides, some neurological features, such as encephalitis, neuralgia, ataxia, Guillain- Barre syndrome, miller fisher syndrome, intracerebral hemorrhage, polyneuritis cranialis, and dystonic posture were reported in the literature as case reports and case series. Conclusion: Taken together, data from our systematic analysis indicated that neurological manifestations in both CNS and PNS were reported in COVID-19 patients. Further observational research in this field with more participants are needed to detect the specific risk concerning neurological complications in COVID-19 infection.","PeriodicalId":205607,"journal":{"name":"Austin Journal of Neurological Disorders & Epilepsy","volume":"9 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130922312","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

On the Relationship Between Placental Opioid-Enhancing Factor and Neuropeptide FF 胎盘阿片增强因子与神经肽FF关系的研究

Austin Journal of Neurological Disorders & Epilepsy Pub Date : 2021-07-12 DOI: 10.26420/austinjneuroldisordepilepsy.2021.1045

Corpening Jw

引用次数: 0