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.
{"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}
Kazi Majidur Rahaman, Rabani Remli, Hui Jan Tan, Norlaila Mustafa, Mohd Rizal Abdul Manaf, Chen Fei Ng
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.
{"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}
Weiwei Tao, Dan Yu, Gang Wu, Wanfen Wang, Xiaofei Hu
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.
{"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}
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
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.
{"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}
Runqi Cheng, Tiansheng Wang, Songshan Chai, Bo Yang, Nanxiang Xiong
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.
{"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}
Objective:This study aimed to evaluate patients with chronic renal failure who underwent peritoneal dialysis (PD) or hemodialysis (HD). We examined the association of dialysis type on the frequency of polyneuropathy and quality of life in these patients. Methods: A total of 61 patients, 41 of whom were PD and 20 HD patients, were included in the study. Neuropathy were evaluated with the Neuropathy Symptom Score (NSS), and quality of life was evaluated with the Short Form -36 (SF- 36). Electrophysiological examinations of all patients were performed.Chi-square test and Independent Samples t-test were used for comparisons between groups. A p value of <0.05 was considered statistically significant. Results: There was no statistically significant difference between the groups in terms of NSS values (p>0.05). In the evaluation of SF-36 parameters the values were significantly better in the HD group (p<0.05). In the electrophysiological examination, polyneuropathy was detected in 60% of the PD group vs 30% of the HD group. Conclusion: In patients with chronic kidney disease on dialysis treatment; HD appeared to have less neuropathy and better quality of life.
{"title":"The frequency of polyneuropathy according to dialysis type and its effect on quality of life in chronic renal failure","authors":"Seher Kocaoğlu","doi":"10.54029/2023fma","DOIUrl":"https://doi.org/10.54029/2023fma","url":null,"abstract":"Objective:This study aimed to evaluate patients with chronic renal failure who underwent peritoneal dialysis (PD) or hemodialysis (HD). We examined the association of dialysis type on the frequency of polyneuropathy and quality of life in these patients. Methods: A total of 61 patients, 41 of whom were PD and 20 HD patients, were included in the study. Neuropathy were evaluated with the Neuropathy Symptom Score (NSS), and quality of life was evaluated with the Short Form -36 (SF- 36). Electrophysiological examinations of all patients were performed.Chi-square test and Independent Samples t-test were used for comparisons between groups. A p value of <0.05 was considered statistically significant. Results: There was no statistically significant difference between the groups in terms of NSS values (p>0.05). In the evaluation of SF-36 parameters the values were significantly better in the HD group (p<0.05). In the electrophysiological examination, polyneuropathy was detected in 60% of the PD group vs 30% of the HD group. Conclusion: In patients with chronic kidney disease on dialysis treatment; HD appeared to have less neuropathy and better quality of life.","PeriodicalId":49757,"journal":{"name":"Neurology Asia","volume":"9 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":"135637557","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}
Benign Rolandic epilepsy (BRE) is the most common cause of epilepsy in childhood. Childhood epilepsies have high heritability, and many BRE cases show an autosomal dominant inheritance pattern. Thanks to the advancement of genomics, the causal genes of BRE were being elucidated. Although BRE is a genetic disorder, most BRE cases cannot be explained by known causal genes. Pleiotropy is a common phenomenon in genes related to epilepsy. For example, the same variant in a gene related to BRE can cause diverse epileptic syndromes from mild BRE to Landau-Kleffner syndrome, a severe form of epilepsy. Although BRE is classified as idiopathic focal epilepsy, BRE can be caused by the same genes or loci related to idiopathic generalized epilepsy (IGE). Using whole exome sequencing, we tried to find causal variants and copy number variations in the known genes for BRE and IGE. We found a novel missense variant in SLC12A5 as a cause of a familial BRE. Although SLC12A5 is a known causal gene for IGE, it may cause BRE, because many genes related to BRE can cause diverse epilepsy syndromes including IGE.
{"title":"A variant in SLC12A5 for a familial benign Rolandic epilepsy","authors":"JONG HUN Kim, Hyoung Seop Kim","doi":"10.54029/2023yzn","DOIUrl":"https://doi.org/10.54029/2023yzn","url":null,"abstract":"Benign Rolandic epilepsy (BRE) is the most common cause of epilepsy in childhood. Childhood epilepsies have high heritability, and many BRE cases show an autosomal dominant inheritance pattern. Thanks to the advancement of genomics, the causal genes of BRE were being elucidated. Although BRE is a genetic disorder, most BRE cases cannot be explained by known causal genes. Pleiotropy is a common phenomenon in genes related to epilepsy. For example, the same variant in a gene related to BRE can cause diverse epileptic syndromes from mild BRE to Landau-Kleffner syndrome, a severe form of epilepsy. Although BRE is classified as idiopathic focal epilepsy, BRE can be caused by the same genes or loci related to idiopathic generalized epilepsy (IGE). Using whole exome sequencing, we tried to find causal variants and copy number variations in the known genes for BRE and IGE. We found a novel missense variant in SLC12A5 as a cause of a familial BRE. Although SLC12A5 is a known causal gene for IGE, it may cause BRE, because many genes related to BRE can cause diverse epilepsy syndromes including IGE.","PeriodicalId":49757,"journal":{"name":"Neurology Asia","volume":"29 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":"135637769","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}
Çağatay Günay, Hüseyin Onay, Fikret Bademkıran, Semra Hız Kurul, Uluç Yiş
Congenital hypotonia and neuropathy caused by SPTBN4 mutation are the core findings of a newly defined rare syndrome: Neurodevelopmental disorder with hypotonia, neuropathy, and deafness. Although hearing loss secondary to auditory neuropathy, dysmorphic findings, and epilepsy are distinctive features, they are not present in every patient, leading to a wide range of phenotypic spectrum. We report here a male patient with the SPTBN4 gene mutation presenting with core symptoms but not hearing loss and epilepsy. There were also previously unreported dysmorphic findings such as prominent eyebrows, bilateral constant esotropia, microphthalmia, bitemporal narrowing, low hairline, low-set ears, broad nasal bridge, bulbous nose, anteverted nares, and high-arched palate, broadening the phenotypic spectrum even further. In conclusion, both genetic background and phenotypic features of the SPTBN4 mutations were expanded in our report. After exclusion of spinal muscular atrophy in patients with congenital hypotonia and areflexia, the SPTBN4 mutations should be considered.
{"title":"Expanding the genotypic and phenotypic spectrum of the SPTBN4 gene mutation: A new variant and dysmorphology","authors":"Çağatay Günay, Hüseyin Onay, Fikret Bademkıran, Semra Hız Kurul, Uluç Yiş","doi":"10.54029/2023unk","DOIUrl":"https://doi.org/10.54029/2023unk","url":null,"abstract":"Congenital hypotonia and neuropathy caused by SPTBN4 mutation are the core findings of a newly defined rare syndrome: Neurodevelopmental disorder with hypotonia, neuropathy, and deafness. Although hearing loss secondary to auditory neuropathy, dysmorphic findings, and epilepsy are distinctive features, they are not present in every patient, leading to a wide range of phenotypic spectrum. We report here a male patient with the SPTBN4 gene mutation presenting with core symptoms but not hearing loss and epilepsy. There were also previously unreported dysmorphic findings such as prominent eyebrows, bilateral constant esotropia, microphthalmia, bitemporal narrowing, low hairline, low-set ears, broad nasal bridge, bulbous nose, anteverted nares, and high-arched palate, broadening the phenotypic spectrum even further. In conclusion, both genetic background and phenotypic features of the SPTBN4 mutations were expanded in our report. After exclusion of spinal muscular atrophy in patients with congenital hypotonia and areflexia, the SPTBN4 mutations should be considered.","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":"135637957","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}
Norashikin Mohd Ranai, Kee Seang Chew, Wei Kang Lim, Choong Yi Fong, Limin Li, Ruey Terng Ng, Way Seah Lee
We describe two young children aged 2 and 5-year-old with very early onset inflammatory bowel disease (IBD), who developed focal seizures during an acute flare of disease. Cerebral venous sinus thrombosis (CVST) was confirmed with magnetic resonance imaging and magnetic resonance venography of the brain. CVST is a rare complication of paediatric IBD that can cause significant morbidity and mortality. The important risk factor for CVST in our children was active disease, which exposed them to an increased prothrombic state. Aggressive treatment of IBD resulted in full neurological recovery of our patients and resolution of the CVST. Our case report is the youngest reported age of CVST associated with IBD to date and highlights the need for clinicians to be vigilant for this rare complication, even in young children with IBD.
{"title":"Cerebral venous sinus thrombosis in young children with inflammatory bowel disease: A report of two cases","authors":"Norashikin Mohd Ranai, Kee Seang Chew, Wei Kang Lim, Choong Yi Fong, Limin Li, Ruey Terng Ng, Way Seah Lee","doi":"10.54029/2023nnk","DOIUrl":"https://doi.org/10.54029/2023nnk","url":null,"abstract":"We describe two young children aged 2 and 5-year-old with very early onset inflammatory bowel disease (IBD), who developed focal seizures during an acute flare of disease. Cerebral venous sinus thrombosis (CVST) was confirmed with magnetic resonance imaging and magnetic resonance venography of the brain. CVST is a rare complication of paediatric IBD that can cause significant morbidity and mortality. The important risk factor for CVST in our children was active disease, which exposed them to an increased prothrombic state. Aggressive treatment of IBD resulted in full neurological recovery of our patients and resolution of the CVST. Our case report is the youngest reported age of CVST associated with IBD to date and highlights the need for clinicians to be vigilant for this rare complication, even in young children with IBD.","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":"135638078","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}
Background & Objective: Screening for early diabetic peripheral neuropathy (DN) is essential for foot ulcer prevention. The Semmes–Weinstein monofilament (SWMF) is commonly used to detect DN in Thailand. However, SWMF interpretation requires patient participation, which is susceptible to risk of error in patients with impaired cognitive function or uncooperative patients. In contrast, stimulated skin wrinkling (SSW) can be interpreted by trained investigators, which is more appropriate. This study aimed to investigate the utility of SSW using a eutectic mixture of local anesthetic (SSW-EMLA) for early DN diagnosis. Methods: This cross-sectional study, recruited 102 patients with diabetes (DM group), 33 with diabetes with foot ulcer (DN control group), and 30 without diabetes (non-DN control group) from the Faculty of Medicine, Vajira Hospital, Navamindradhiraj University, Thailand, from February 3, 2021 to November 30, 2021. SSW was conducted by applying EMLA on the tips of the 2nd, 3rd, and 4th fingers of both hands. SWMF, sensory perception of pain (SPP), vibration perception threshold (VPT), joint position sense (JPS), and deep tendon reflexes (DTR) were also evaluated on the same day. Results: The Interrater agreement of two investigators for SSW-EMLA was high with intraclass correlation coefficients of 0.87 (0.824–0.904) for the right hand and 0.874 (0.830–0.907) for the left hand. The kappa coefficients of agreement of SSW-EMLA for SPP, SWMF, VPT, JPS, and DTR testing were 0.411, 0.478, 0.714, 0.444, and 0.681, respectively. The sensitivity and specificity of SSW-EMLA testing for DN detection were 83.3%, was 85.7%, respectively. Conclusion: The SSW-EMLA test can be considered as an alternative method for DN detection, due to its noninvasiveness, inexpensiveness (50THB), being a simple procedure, high sensitivity and specificity, and acceptable rater variation.
{"title":"Early detection of diabetic peripheral neuropathy using EMLA-induced skin wrinkling","authors":"Bennaree Chuesawai, None Suwat Srisuwannanukorn","doi":"10.54029/2023pxr","DOIUrl":"https://doi.org/10.54029/2023pxr","url":null,"abstract":"Background & Objective: Screening for early diabetic peripheral neuropathy (DN) is essential for foot ulcer prevention. The Semmes–Weinstein monofilament (SWMF) is commonly used to detect DN in Thailand. However, SWMF interpretation requires patient participation, which is susceptible to risk of error in patients with impaired cognitive function or uncooperative patients. In contrast, stimulated skin wrinkling (SSW) can be interpreted by trained investigators, which is more appropriate. This study aimed to investigate the utility of SSW using a eutectic mixture of local anesthetic (SSW-EMLA) for early DN diagnosis. Methods: This cross-sectional study, recruited 102 patients with diabetes (DM group), 33 with diabetes with foot ulcer (DN control group), and 30 without diabetes (non-DN control group) from the Faculty of Medicine, Vajira Hospital, Navamindradhiraj University, Thailand, from February 3, 2021 to November 30, 2021. SSW was conducted by applying EMLA on the tips of the 2nd, 3rd, and 4th fingers of both hands. SWMF, sensory perception of pain (SPP), vibration perception threshold (VPT), joint position sense (JPS), and deep tendon reflexes (DTR) were also evaluated on the same day. Results: The Interrater agreement of two investigators for SSW-EMLA was high with intraclass correlation coefficients of 0.87 (0.824–0.904) for the right hand and 0.874 (0.830–0.907) for the left hand. The kappa coefficients of agreement of SSW-EMLA for SPP, SWMF, VPT, JPS, and DTR testing were 0.411, 0.478, 0.714, 0.444, and 0.681, respectively. The sensitivity and specificity of SSW-EMLA testing for DN detection were 83.3%, was 85.7%, respectively. Conclusion: The SSW-EMLA test can be considered as an alternative method for DN detection, due to its noninvasiveness, inexpensiveness (50THB), being a simple procedure, high sensitivity and specificity, and acceptable rater variation.","PeriodicalId":49757,"journal":{"name":"Neurology Asia","volume":"59 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":"135638079","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}
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