Neurology Asia最新文献_第7页

RNF213 p.R4810K variant in moyamoya disease in adults and children from a Malaysian tertiary center 马来西亚三级中心成人和儿童烟雾病的RNF213 p.R4810K变异

4区医学

Neurology Asia Pub Date : 2023-09-01 DOI: 10.54029/2023jsj

Jun Hui Ho, Kay Sin Tan, Wei Kang Lim, Choong Yi Fong, Tsun Haw Toh, Kar Foo Lau, Zhen Shun Chan, Sharon Mei Ling Tai, Kartini Rahmat, Farah Diana Tarmizi Thayaparan, Sumitha Murugesu, Ching Ching Ng

{"title":"RNF213 p.R4810K variant in moyamoya disease in adults and children from a Malaysian tertiary center","authors":"Jun Hui Ho, Kay Sin Tan, Wei Kang Lim, Choong Yi Fong, Tsun Haw Toh, Kar Foo Lau, Zhen Shun Chan, Sharon Mei Ling Tai, Kartini Rahmat, Farah Diana Tarmizi Thayaparan, Sumitha Murugesu, Ching Ching Ng","doi":"10.54029/2023jsj","DOIUrl":"https://doi.org/10.54029/2023jsj","url":null,"abstract":"Background: Ring finger protein 213 (RNF213) is a major susceptibility gene for moyamoya disease (MMD). A single nucleotide variant known as c.14429G>A (p.R4810K, rs112735431) is strongly associated with MMD, weakly associated with moyamoya syndrome (MMS) and intracranial atherosclerosis (ICAS) in East Asians. The percentage of patients carrying p.R4810K and the effect sizes vary between different racial backgrounds. We aimed to investigate the prevalence of p.R4810K in MMD, MMS, and ICAS patients in Malaysia. Methods: We genotyped p.R4810K in DNA extracted from 9 MMD, 13 MMS, 15 ICAS cases, and 45 controls using TaqMan SNP genotyping assay. Clinical and neuroradiological data was collected for each patient and the distribution of genotype frequencies compared between cases and controls and tested for association. Results: Two of seven (28.6%) Chinese MMD cases had heterozygous p.R4810K (GA) genotype. The remaining MMD cases (5 Chinese and 2 Malays), all 13 MMS, 15 ICAS cases and 45 controls had homozygous wild-type (GG) genotype. Higher frequency of GA genotype was observed in Chinese MMD patients compared with controls, indicating an association between p.R4810K and Chinese MMD subgroup under a dominant model (P=0.0398). Conclusion: This is the first study reporting p.R4810K in a multiracial Asian population. The p.R4810K missense mutation was detected in MMD cases of Chinese descent in Malaysia. Further studies are needed to identify other susceptibility variants and genes in Malaysian patients with moyamoya and ICAS.","PeriodicalId":49757,"journal":{"name":"Neurology Asia","volume":"44 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135637964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Effects of virtual balance training and conservative rehabilitation on balance in chronic stroke patients 虚拟平衡训练与保守性康复对慢性脑卒中患者平衡能力的影响

4区医学

Neurology Asia Pub Date : 2023-09-01 DOI: 10.54029/2023kcw

SERDAR KILINC, Chasan Mola ALİ, Isıl Doganer, Elif Yaksi, Ferda Ozdemir

{"title":"Effects of virtual balance training and conservative rehabilitation on balance in chronic stroke patients","authors":"SERDAR KILINC, Chasan Mola ALİ, Isıl Doganer, Elif Yaksi, Ferda Ozdemir","doi":"10.54029/2023kcw","DOIUrl":"https://doi.org/10.54029/2023kcw","url":null,"abstract":"Objective: This study aimed to test the comparative efficacy of virtual balance training (VBT) and conservative rehabilitation (CR) relative to CR alone on balance in chronic stroke patients. Methods: Thirty patients with chronic stroke (>6-months post-stroke) were allocated into 2 groups (n=15) as Group CR and Group VBT. CR was performed for 60 min, 4 times a week, for 8 weeks in both groups. VBT was applied for 20 min, 4 times a week, for 8 weeks along with the CR, in Group VBT. Brunnstrom motor recovery (BMR) stage, spasticity degrees, Functional Ambulation Scale (FAS), Short Form-36 (SF-36) scale, Berg Balance Scale (BBS) in both groups were assessed before and after treatment. Mann-Whitney U, Wilcoxon signed rank tests were used to evaluate BBS data (p<0.05). Results: Although, no significant difference was observed between groups in terms of BBS scores, BMR stages, FAS scores, SF-36 scale scores, and spasticity degrees before and after treatment; significant improvements were observed in BBS scores, BMR stages, and FAS scores after treatment in both groups (p<0.05). Comparing the SF-36 subscale scores before and after treatment, significant differences were noted in emotional role limitation scores for Group VBT (p=0.03) and in pain scores for Group CR (p=0.01). Conclusion: VBT along with the CR in chronic stroke patients was not superior to the CR alone, in terms of improving balance, motor recovery, ambulation level, and quality of life.","PeriodicalId":49757,"journal":{"name":"Neurology Asia","volume":"25 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135638080","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The effects of the COVID-19 pandemic on epilepsy patients 新冠肺炎疫情对癫痫患者的影响

4区医学

Neurology Asia Pub Date : 2023-09-01 DOI: 10.54029/2023wxm

Firdevs Ezgi Uçan Tokuç, Fatma Genç, Fatma Zehra Altunç, Yasemin Biçer Gömceli

{"title":"The effects of the COVID-19 pandemic on epilepsy patients","authors":"Firdevs Ezgi Uçan Tokuç, Fatma Genç, Fatma Zehra Altunç, Yasemin Biçer Gömceli","doi":"10.54029/2023wxm","DOIUrl":"https://doi.org/10.54029/2023wxm","url":null,"abstract":"Background: Pandemics like the coronavirus disease 2019 (COVID-19) bring along many individual and social problems. We aimed to investigate the impact of the COVID-19 pandemic on anxiety, depression, and quality of life in patients with epilepsy and if seizures worsened because of it. Methods: During their routine outpatient follow-up appointments, the patients were probed using questionnaires prepared in advance and we also administered Beck depression and Hamilton anxiety scales to the patients. Results: The mean age of the patients was 34.9 years and 39.5% of the patients were male. It was asked whether patients had problems accessing medications, hospitals, and doctors or whether they had difficulty receiving tests such as EEG-MRI, and 14.9 % of the patients said they had issues accessing them. About 6.8% of all patients and 5/17 patients with COVID-19 infection reported an increase in seizure frequency of more than 50%. While 49 (30.3%) of 161 patients stated they had insomnia during the pandemic period, 58 (36.02%) patients said they started to experience symptoms of anxiety and depression during the pandemic period. Depression was diagnosed in 71 (44.1%), and anxiety was observed in 34 (21.2%) of 161 patients. Conclusion: As a result of the COVID-19 pandemic and quarantine measures, epilepsy patients have been affected significantly. There was a considerable rise in the number of seizures in a large number of patients, and most of them expressed anxiety, depression symptoms, and insomnia. These rates were observed to be greater in individuals who had refractory epilepsy and a history of COVID infection.","PeriodicalId":49757,"journal":{"name":"Neurology Asia","volume":"28 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135637788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The association of vitamin D level with diabetic peripheral neuropathy: A comparative cross- sectional study 维生素D水平与糖尿病周围神经病变的关系:一项比较横断面研究

4区医学

Neurology Asia Pub Date : 2023-09-01 DOI: 10.54029/2023eww

Kazi Majidur Rahaman, Rabani Remli, Hui Jan Tan, Norlaila Mustafa, Mohd Rizal Abdul Manaf, Chen Fei Ng

{"title":"The association of vitamin D level with diabetic peripheral neuropathy: A comparative cross- sectional study","authors":"Kazi Majidur Rahaman, Rabani Remli, Hui Jan Tan, Norlaila Mustafa, Mohd Rizal Abdul Manaf, Chen Fei Ng","doi":"10.54029/2023eww","DOIUrl":"https://doi.org/10.54029/2023eww","url":null,"abstract":"Background & Objective: Diabetic peripheral neuropathy (DPN) is a common complication of type 2 diabetes mellitus (DM). Vitamin D deficiency has been shown to be prevalent among patients with type 2 DM, particularly in those with DPN. This study aimed to look at the association of serum vitamin D level with peripheral neuropathy in patients with type 2 DM. Methods: This was a comparative cross- sectional study conducted in a tertiary hospital in Malaysia. Fifty diabetic patients with DPN and fifty diabetic patients without DPN were recruited. Serum vitamin D level was determined by measuring 25-hydroxyvitamin D [25(OH)D] level. The patients were clinically assessed and screened with Diabetic Neuropathy Symptoms score. Nerve conduction study was performed for patients with DPN. Results: The serum 25(OH)D level was significantly lower in patients with DPN (11.81 [9.09-18.06] vs 18.63 [11.25-22.63] ng/ml; p=0.006). Multiple logistic regression analysis showed that DPN was significantly associated with higher BMI, longer duration of DM, insulin usage and serum 25(OH)D level. The usage of fibrates had negative association with DPN. Subgroup analysis of the DPN group showed that patients with painful DPN had significant lower serum 25(OH)D level (p<0.001) and the clinical severity of DPN negatively correlated with serum 25(OH)D level (p=0.015). Conclusion: Vitamin D deficiency is associated with DPN in patients with type 2 DM. In addition, patients with painful DPN tend to have significantly lower serum 25(OH)D level.","PeriodicalId":49757,"journal":{"name":"Neurology Asia","volume":"45 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135637960","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The role of red blood cell distribution width to platelet ratio in predicting hemorrhagic transformation after mechanical thrombectomy therapy in acute ischemic stroke patients 红细胞分布宽度与血小板比值在预测急性缺血性脑卒中患者机械取栓后出血转化中的作用

4区医学

Neurology Asia Pub Date : 2023-09-01 DOI: 10.54029/2023zhn

Weiwei Tao, Dan Yu, Gang Wu, Wanfen Wang, Xiaofei Hu

{"title":"The role of red blood cell distribution width to platelet ratio in predicting hemorrhagic transformation after mechanical thrombectomy therapy in acute ischemic stroke patients","authors":"Weiwei Tao, Dan Yu, Gang Wu, Wanfen Wang, Xiaofei Hu","doi":"10.54029/2023zhn","DOIUrl":"https://doi.org/10.54029/2023zhn","url":null,"abstract":"Objective: Hemorrhagic transformation (HT) is common complication after mechanical thrombectory (MT) for acute ischemic stroke (AIS). To our knowledge, there has been no study on the correlation between baseline red blood cell distribution width (RDW) to platelet ratio (RPR) and HT after MT. Methods: This study recruited 126 AIS patients with anterior or posterior circulation large-vessel occlusion who underwent MT therapy at the Department of Neurology, Taizhou Hospital, Zhejiang province between September 2019 and April 2021. Patients were divided into two groups: patients with HT and those without HT (wHT), and their laboratory and clinical data were compared. Results: We found no significant differences in sex, age, alcohol consumption, diabetes mellitus, atrial fibrillation, systolic blood pressure, diastolic blood pressure, triglycerides, total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, serum creatinine, blood urea nitrogen, fibrinogen, neutrophil count, lymphocyte count, neutrophil-to-lymphocyte ratio (NLR), National Institutes of Health Stroke Scale (NIHSS) score, Alberta Stroke Program Early Computed Tomography Score (ASPECTS), whether intravenous thrombolysis was accepted, and TOAST classification between the two groups. Compared with patients without HT, we found that the admission blood glucose, RDW and RPR levels were higher in patients with HT after MT in AIS patients, multivariate logistic regression analysis revealed that baseline RPR (odds ratio (OR), 1.290; 95% CI, 1.062–1.567; P=0.010) and glucose level (OR, 1.177; 95% CI, 1.013–1.369; P=0.034) are independent predictors for HT after MT. Conclusion: Higher baseline RPR and higher admission blood glucose levels might be related to HT in AIS patients who received MT therapy.","PeriodicalId":49757,"journal":{"name":"Neurology Asia","volume":"126 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135638082","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Translation and cross-cultural adaptation of the Malay version of the painDETECT Questionnaire 马来语版疼痛检测问卷的翻译与跨文化改编

4区医学

Neurology Asia Pub Date : 2023-09-01 DOI: 10.54029/2023zuj

Huai Heng Loh, Anne Yee, Shanty Velaiutham, Zanariah Hussein, Mohamad Zaki Haji Mohd Amin, Sharifah Aishah Wan, Chin Voon Tong, Chun Yang Sim, Linda Yee Yen Then, Mohamad Fairuz Ali, Mohammad Arif Shahar, Yueh Chien Kuan, Norhayati Yahaya, Florence Hui Sieng Tan, Mafauzy Mohamed

{"title":"Translation and cross-cultural adaptation of the Malay version of the painDETECT Questionnaire","authors":"Huai Heng Loh, Anne Yee, Shanty Velaiutham, Zanariah Hussein, Mohamad Zaki Haji Mohd Amin, Sharifah Aishah Wan, Chin Voon Tong, Chun Yang Sim, Linda Yee Yen Then, Mohamad Fairuz Ali, Mohammad Arif Shahar, Yueh Chien Kuan, Norhayati Yahaya, Florence Hui Sieng Tan, Mafauzy Mohamed","doi":"10.54029/2023zuj","DOIUrl":"https://doi.org/10.54029/2023zuj","url":null,"abstract":"Background: The painDETECT questionnaire (PDQ) is a useful tool for screening of patients with neuropathic pain. This study aimed to translate the PDQ into the Malay language (PDQ-M) and to achieve cross-cultural adaptation of the questionnaire for use in Malaysia. Methods: The translation and cultural adaptation process of the English version of PDQ was performed based on international guidelines. Subsequently, 97 patients with neuropathic and nociceptive pain based on clinician’s diagnoses were recruited to complete three-type numeric rating scale (NRS) of pain followed by PDQ-M. Results: On the basis of cognitive debriefing, several changes of the translated PDQ-M were made. A total of 53 patients with neuropathic pain and 44 with nociceptive pain (54.6% females, 45.4% males, mean age 52.4 years ± 14.2) were recruited into this study. The most common class of analgesia prescribed for patients with neuropathic pain was anti-convulsant, whereas co-analgesic therapy, which includes NSAID and COX-2 inhibitor, was the most prescribed for patients with nociceptive pain. Combination analgesia was used in 32.1% of those with neuropathic pain, and 11.4% of patients with nociceptive pain. The median time taken for respondents to complete the questionnaire was 420 seconds. In regression analysis, active smoking (beta 0.586, p<0.001) and female gender (beta -0.422, p=0.008) were associated with higher PDQ-M scores only among those with neuropathic pain. Conclusions: The Malay version of the painDETECT questionnaire was translated and cross-culturally adapted for ease of understanding among the local population via careful face-to-face interview.","PeriodicalId":49757,"journal":{"name":"Neurology Asia","volume":"52 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135638083","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Percutaneous balloon compression for trigeminal neuralgia due to the primitive trigeminal artery: A case report and review of the literature 经皮球囊压迫治疗三叉原始动脉引起的三叉神经痛:1例报告及文献复习

4区医学

Neurology Asia Pub Date : 2023-09-01 DOI: 10.54029/2023kpc

Runqi Cheng, Tiansheng Wang, Songshan Chai, Bo Yang, Nanxiang Xiong

{"title":"Percutaneous balloon compression for trigeminal neuralgia due to the primitive trigeminal artery: A case report and review of the literature","authors":"Runqi Cheng, Tiansheng Wang, Songshan Chai, Bo Yang, Nanxiang Xiong","doi":"10.54029/2023kpc","DOIUrl":"https://doi.org/10.54029/2023kpc","url":null,"abstract":"Trigeminal neuralgia (TN) is often caused by vascular compression of the trigeminal nerve cisternal segment. TN due to the primitive trigeminal artery formed by developmental variants of cerebral vessels is rare. We report here a 59-year-old male with TN whose preoperative MRI showed a primitive trigeminal artery that compressed the trigeminal nerve, and microvascular decompression (MVD) was performed to separate the vessel from the trigeminal nerve cisternal segment. The pain was relieved after MVD, but it recurred two months later. MRI reexamination showed that although MVD relieved the vascular compression of the trigeminal nerve cisternal segment, the nerve in the Meckel’s cave was still compressed by PTA, which was thought to be the cause of TN recurrence. Due to the limitations of the surgical microscope view, completing the vascular decompression at the Meckel’s cave is challenging. So percutaneous balloon compression was performed. After the procedure, the TN subsided. The patient remained pain free at one year follow-up. To our knowledge, this is the first case of primitive trigeminal artery-associated TN treated by percutaneous balloon compression. This case suggests that percutaneous balloon compression may be considered for TN caused by compression of the primitive trigeminal artery when MVD is difficult to perform.","PeriodicalId":49757,"journal":{"name":"Neurology Asia","volume":"16 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135638084","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The frequency of polyneuropathy according to dialysis type and its effect on quality of life in chronic renal failure 慢性肾衰竭患者多神经病变发生率与透析类型的关系及其对生活质量的影响

4区医学

Neurology Asia Pub Date : 2023-09-01 DOI: 10.54029/2023fma

Seher Kocaoğlu

引用次数: 0

A variant in SLC12A5 for a familial benign Rolandic epilepsy 家族性良性罗兰癫痫的SLC12A5变异

4区医学

Neurology Asia Pub Date : 2023-09-01 DOI: 10.54029/2023yzn

JONG HUN Kim, Hyoung Seop Kim

引用次数: 0

Expanding the genotypic and phenotypic spectrum of the SPTBN4 gene mutation: A new variant and dysmorphology 扩展SPTBN4基因突变的基因型和表型谱:一个新的变异和畸形