David Gibson, Anh Huan Vo, Hannah Lambing, Prithanjan Bhattacharya, Peggy Tahir, Farid F Chehab, Nicholas Butowski
BACKGROUND: MGMT (O 6 -methylguanine-DNA methyltransferase) promoter methylation is a commonly assessed prognostic marker in glioblastoma (GBM). Epigenetic silencing of the MGMT gene by promoter methylation is associated with greater overall and progression free survival with alkylating agent regimens. To date, there is marked heterogeneity in how MGMT promoter methylation is tested and which CpG sites are interrogated. METHODS: To further elucidate which MGMT promoter CpG sites are of greatest interest, we performed comprehensive searches in PubMed, Web of Science, and Embase and reviewed 2,925 article abstracts...
March 23, 2024: BMC Neurology
Abhinav Suri, Stephen Avila, Christina Tan, Huda Alalami, Jennifer Harris
BACKGROUND: Facial paralysis due to parotid sialolithiasis-induced parotitis is a unusual clinical phenomenon that has not been reported in prior literature. This scenario can present a diagnostic challenge due to its rarity and complex symptomatology, particularly if a patient has other potential contributing factors such as facial trauma or bilateral forehead botox injections as in this patient. This case report elucidates such a complex presentation, aiming to increase awareness and promote timely recognition among clinicians...
March 22, 2024: BMC Neurology
Narmin Farazi, Hanieh Salehi-Pourmehr, Fereshteh Farajdokht, Javad Mahmoudi, Saeed Sadigh-Eteghad
Preclinical and clinical studies have indicated that combining photobiomodulation (PBM) therapy with other therapeutic approaches may influence the treatment process in a variety of disorders. The purpose of this systematic review was to determine whether PBM-combined therapy provides additional benefits over monotherapies in neurologic and neuropsychiatric disorders. In addition, the review describes the most commonly used methods and PBM parameters in these conjunctional approaches.To accomplish this, a systematic search was conducted in Google Scholar, PubMed, and Scopus databases through January 2024...
March 19, 2024: BMC Neurology
Firdevs Ezgi Uçan Tokuç, Eylem Özaydın Göksu, Şennur Delibaş Katı
OBJECTIVES: Internalized stigma can have profound effects on how individuals with migraines and other primary headache disorders see themselves and their quality of life. We aimed to investigate internalized stigma in patients with chronic migraines and medication overuse headaches. METHODS: A total of 57 patients (52 women, 5 men) were included in the study, 26 of these patients were affected by chronic migraine, 31 of them were affected by medication overuse headache and chronic migraine...
March 19, 2024: BMC Neurology
Ali Khanafer, Hans Henkes, Philipp Bücke, Florian Hennersdorf, Hansjörg Bäzner, Michael Forsting, Philipp von Gottberg
BACKGROUND: Acute stroke treatment with intracranial thrombectomy and treatment of ipsilateral carotid artery stenosis/occlusion ("tandem lesion", TL) in one session is considered safe. However, the risk of stent restenosis after TL treatment is high, and antiplatelet therapy (APT) preventing restenosis must be well balanced to avoid intracranial hemorrhage. We investigated the safety and 90-day outcome of patients receiving TL treatment under triple-APT, focused on stent-patency and possible disadvantageous comorbidities...
March 18, 2024: BMC Neurology
Min Shen, Linlin Zhang, Chen Chen, Xiaocen Wei, Yuning Ma, Yuxia Ma
BACKGROUND: Complex interactions between the immune system and the brain may affect neural development, survival, and function, with etiological and therapeutic implications for neurodegenerative diseases. However, previous studies investigating the association between immune inflammation and Alzheimer's disease (AD) have yielded inconsistent results. METHODS: We applied Mendelian randomization (MR) to examine the causal relationship between immune cell traits and AD risk using genetic variants as instrumental variables...
March 18, 2024: BMC Neurology
Jing Tian, Kun Zhang, Junzhao Cui, Jin Qin, Binbin Wang, Lixia Zhou, Tong Li, Kailin Bu, Zhongzhong Li, Lin Liu, Qisong Wang, Si Yuan, Lina Ma, Ye Wang, Rui Wang, Chaoyue Meng, Biyi Zhou, Li Guo, Xiaoyun Liu
OBJECTIVE: To investigate the factors associated with brain frailty and the effect of brain frailty in patients with anterior circulation large artery occlusion (AC-LAO). METHODS: 1100 patients with AC-LVO consecutively admitted to the Second Hospital of Hebei Medical University, North China between June 2016 and April 2018 were retrospectively analyzed. The variables associated with brain frailty and stroke outcome were analyzed by ANOVA analysis, the Mann-Whitney U test and multiple linear regression...
March 18, 2024: BMC Neurology
Amy Doody, Lindsay Alfano, Jordi Diaz-Manera, Linda Lowes, Tahseen Mozaffar, Katherine D Mathews, Conrad C Weihl, Matthew Wicklund, Man Hung, Jeffrey Statland, Nicholas E Johnson
BACKGROUND: The Limb Girdle Muscular Dystrophies (LGMDs) are characterized by progressive weakness of the shoulder and hip girdle muscles as a result of over 30 different genetic mutations. This study is designed to develop clinical outcome assessments across the group of disorders. METHODS/DESIGN: The primary goal of this study is to evaluate the utility of a set of outcome measures on a wide range of LGMD phenotypes and ability levels to determine if it would be possible to use similar outcomes between individuals with different phenotypes...
March 15, 2024: BMC Neurology
Ruojing Bai, Yuanyuan Luo
BACKGROUND: Diabetic peripheral neuropathy (DPN) is a prevalent and serious complication of diabetes mellitus, impacting the nerves in the limbs and leading to symptoms like pain, numbness, and diminished function. While the exact molecular and immune mechanisms underlying DPN remain incompletely understood, recent findings indicate that mitochondrial dysfunction may play a role in the advancement of this diabetic condition. METHODS: Two RNA transcriptome datasets (codes: GSE185011 and GSE95849), comprising samples from diabetic peripheral neuropathy (DPN) patients and healthy controls (HC), were retrieved from the Gene Expression Omnibus (GEO) database hosted by the National Center for Biotechnology Information (NCBI)...
March 13, 2024: BMC Neurology
Hong Jin, Yiheng Du, Jiahui Yan, Jinru Zhang, Xiaoyu Cheng, Chengjie Mao, Jing Chen, Chun-Feng Liu
OBJECTIVES: Overactive bladder (OAB) and dyskinesia are frequent complications in patients with Parkinson's disease (PD). However, the correlation between OAB and dyskinesia has been insufficiently explored. The purpose of this study was to examine the relationship between dyskinesia, OAB, and clinical characteristics among individuals with PD. METHODS: 1338 PD patients were included in the present study. Demographic features were compared between patients with or without dyskinesia and OAB symptoms...
March 12, 2024: BMC Neurology
Toshiaki Nonaka, Yasushi Iwasaki, Hiroyuki Horiuchi, Katsuya Satoh
BACKGROUND: Human prion diseases (HPDs) are fatal neurodegenerative disorders characterized by abnormal prion proteins (PrPSc). However, the detection of prion seeding activity in patients with high sensitivity remains challenging. Even though real-time quaking-induced conversion (RT-QuIC) assay is suitable for detecting prion seeding activity in a variety of specimens, it shows lower accuracy when whole blood, blood plasma, and blood-contaminated tissue samples are used. In this study, we developed a novel technology for the in vitro amplification of abnormal prion proteins in HPD to the end of enabling their detection with high sensitivity known as the enhanced quaking-induced conversion (eQuIC) assay...
March 11, 2024: BMC Neurology
Mei Yao, Liya Jiang, Yicheng Yu, Yiqin Cui, Yuwei Chen, Dongming Zhou, Feng Gao, Shanshan Mao
BACKGROUND: Spinal muscular atrophy (SMA) is a rare autosomal recessive hereditary neuromuscular disease caused by survival motor neuron 1 (SMN1) gene deletion or mutation. Homozygous deletions of exon 7 in SMN1 result in 95% of SMA cases, while the remaining 5% are caused by other pathogenic variants of SMN1. METHODS: We analyzed two SMA-suspected cases that were collected, with no SMN1 gene deletion and point mutation in whole-exome sequencing. Exon 1 deletion of the SMN gene was detected using Multiplex ligation-dependent probe amplification (MLPA) P021...
March 11, 2024: BMC Neurology
Xufang Wei, Shengtong Sun, Manyu Zhang, Zhenqiang Zhao
INTRODUCTION: At present, stroke has become the first cause of death and disability among Chinese adults. With the coming of the aging population in China, the disease burden brought by stroke will be increasingly aggravated. And stroke is a leading cause of disability. There is a golden plastic period after stroke, during which timely and safe intervention and rehabilitation therapy can effectively improve the disability status. However, there is still controversy about the duration of interventional rehabilitation after stroke...
March 8, 2024: BMC Neurology
Tamanna Agarwal, Oana Madalina Mereuta, Sherief Ghozy, Jorge L Arturo Larco, Cem Bilgin, Ram Kadirvel, Waleed Brinjikji, David F Kallmes
BACKGROUND: The risk of acute ischemic stroke (AIS) associated with high estrogen states, including pregnant patients and those using oral contraceptives, has been well documented. We described the histological composition of thrombi collected in these cases. METHODS: From a prospective tissue registry (STRIP registry) of thrombi retrieved during mechanical thrombectomy for AIS, we identified 5 patients with high estrogen states: 1 post-partum patient, 1 undergoing hormone replacement therapy and 3 consuming oral contraceptive pills...
March 7, 2024: BMC Neurology
Seyul Kwak, Hairin Kim, Keun You Kim, Da Young Oh, Dasom Lee, Gieun Nam, Jun-Young Lee
BACKGROUND: Neuropsychiatric symptoms and delusions are highly prevalent among people with dementia. However, multiple roots of neurobiological bases and shared neural basis of delusion and cognitive function remain to be characterized. By utilizing a fine-grained multivariable approach, we investigated distinct neuroanatomical correlates of delusion symptoms across a large population of dementing illnesses. METHODS: In this study, 750 older adults with mild cognitive impairment and Alzheimer's disease completed brain structural imaging and neuropsychological assessment...
March 6, 2024: BMC Neurology
Naveed Akhtar, Rajvir Singh, Saadat Kamran, Sujatha Joseph, Deborah Morgan, Ryan Ty Uy, Sarah Treit, Ashfaq Shuaib
BACKGROUND AND OBJECTIVES: Hypertriglyceridemia (HT) may increase the risk of stroke. Limited studies have shown that stroke severity and infarction size are smaller in patients with HT. We explored the relationship between triglyceride levels and stroke risk factors, severity and outcome in a large prospective database. DESIGN: Prospective Cross-sectional study. SETTING: We retrospectively interrogated the Qatar Stroke Database in all patients admitted between 2014-2022 with acute ischemic stroke and evaluated the relationship between triglyceride, diabetes, stroke severity (measured on NIHSS), stroke type (TOAST classification) and the short- (mRS at 90 days) and long-term outcomes (MACE at 1 year) in patients with HT...
March 5, 2024: BMC Neurology
Ameya S Walimbe, Keren Machol, Stephen F Kralik, Elizabeth A Mizerik, Yoel Gofin, Mir Reza Bekheirnia, Charul Gijavanekar, Sarah H Elsea, Lisa T Emrick, Fernando Scaglia
BACKGROUND: RARS2-related mitochondrial disorder is an autosomal recessive mitochondrial encephalopathy caused by biallelic pathogenic variants in the gene encoding the mitochondrial arginyl-transfer RNA synthetase 2 (RARS2, MIM *611524, NM_020320.5). RARS2 catalyzes the transfer of L-arginine to its cognate tRNA during the translation of mitochondrially-encoded proteins. The classical presentation of RARS2-related mitochondrial disorder includes pontocerebellar hypoplasia (PCH), progressive microcephaly, profound developmental delay, feeding difficulties, and hypotonia...
March 4, 2024: BMC Neurology
Binghan Li, Zhengsheng Gu, Weisen Wang, Bingying Du, Chenghao Wu, Bin Li, Tianren Wang, Ge Yin, Xin Gao, Jingjing Chen, Xiaoying Bi, Hailing Zhang, Xu Sun
BACKGROUND: The global prevalence of VCI has increased steadily in recent years, but diagnostic biomarkers for VCI in patients with non-disabling ischemic cerebrovascular incidents (NICE) remain indefinite. The primary objective of this research was to investigate the relationship between peripheral serological markers, white matter damage, and cognitive function in individuals with NICE. METHODS: We collected clinical data, demographic information, and medical history from 257 patients with NICE...
March 4, 2024: BMC Neurology
Changchun Cao, Tony Bowei Wang, Haofei Hu, Yong Han, Xiaohua Zhang, Yulong Wang
OBJECTIVE: In patients experiencing acute ischemic stroke, there is ongoing debate surrounding the connection between chronic hyperglycemic status and their initial clinical outcomes. Our objective was to examine the connection between glycated hemoglobin (HbA1c) levels and adverse clinical outcomes at both 3-months adverse clinical outcomes in individuals with acute ischemic stroke (AIS) with and without diabetes. METHODS: The present prospective cohort study involved 896 AIS patients without diabetes and 628 with diabetes treated at a South Korean hospital from January 2010 to December 2016...
March 4, 2024: BMC Neurology
Qiao Zhou, Thomas Eggert, Ana Zhelyazkova, Alexander Choukér, Kristina Adorjan, Andreas Straube
BACKGROUND: The adverse events (AEs) after a Coronavirus disease 2019 (Covid-19) Pfizer-Biotech mRNA vaccination present a medical and epidemiological issue of increasing interest. Headache is the most frequent neurological adverse effect and generally the third most common adverse event after a Covid-19 vaccination, but only a few studies focus on the link between headache and other AEs after vaccination. This study aims to investigate the correlation between headaches and Covid-19 vaccination, as well as the possible links between headaches and other AEs after Covid-19 vaccination, thereby helping the management of AEs and avoiding further occurrences...
March 2, 2024: BMC Neurology
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