A. ZenyrosFaith, Sabellano MD Mph, T. MarkTimothy, Steven G Cinco MD, Villaraza MD Fpna, Dr Zfa Sabellano, Neurology Asia
We describe a 24-year old man diagnosed with Down syndrome who developed intracranial germinona located at the pineal region who presented with no ophthalmologic signs on neurologic examination on admission. However, after external ventricular device (EVD) insertion, the patient developed upward gaze palsy and convergence retraction nystagmus.
{"title":"Not a usual sight: A rare case of pineal gland tumor associated with Down syndrome presenting with absence of ophthalmologic signs: A case report","authors":"A. ZenyrosFaith, Sabellano MD Mph, T. MarkTimothy, Steven G Cinco MD, Villaraza MD Fpna, Dr Zfa Sabellano, Neurology Asia","doi":"10.54029/2023ufj","DOIUrl":"https://doi.org/10.54029/2023ufj","url":null,"abstract":"We describe a 24-year old man diagnosed with Down syndrome who developed intracranial germinona located at the pineal region who presented with no ophthalmologic signs on neurologic examination on admission. However, after external ventricular device (EVD) insertion, the patient developed upward gaze palsy and convergence retraction nystagmus.","PeriodicalId":49757,"journal":{"name":"Neurology Asia","volume":"1 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70666876","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}
Anti-N-methyl-D-aspartate receptor antibody and myelin oligodendrocyte glycoprotein antibody can coexist. Some patients have NMDAR encephalitis and MOG antibody disease successively. We report a rare case of MOGAD following anti-NMDAR encephalitis. Three years ago, a female of 44 years, our patient developed headache, mental disorder, and epilepsy. Cerebrospinal fluid was positive for NMDAR antibodies, and the patient’s symptoms improved after immunomodulatory treatment. Three months ago, the patient had a sudden loss of vision in the left eye. Orbital magnetic resonance imaging was supportive of left optic neuritis. Cerebrospinal fluid was positive for NMDAR and MOG antibodies. She was then diagnosed with MOGAD with anti-NMDAR encephalitis. In conclusion, when patients with anti-NMDAR encephalitis have demyelinating symptoms such as decreased vision, numbness or weakness of the limbs, it is necessary to consider whether they are combined with MOGAD.
抗n -甲基- d -天冬氨酸受体抗体和髓鞘少突胶质细胞糖蛋白抗体可以共存。部分患者先后出现NMDAR脑炎和MOG抗体病。我们报告一例罕见的抗nmdar脑炎后MOGAD病例。三年前，一位44岁的女性，我们的病人出现了头痛，精神障碍和癫痫。脑脊液NMDAR抗体阳性，经免疫调节治疗后症状好转。三个月前，病人的左眼突然失明。眼眶磁共振成像支持左视神经炎。脑脊液NMDAR和MOG抗体阳性。随后，她被诊断为MOGAD伴抗nmdar脑炎。综上所述，当抗nmdar脑炎患者出现视力下降、四肢麻木或无力等脱髓鞘症状时，需要考虑是否联合MOGAD。
{"title":"MOGAD following anti-NMDAR encephalitis: A case report","authors":"Tian Nie, Wan Wei","doi":"10.54029/2023nap","DOIUrl":"https://doi.org/10.54029/2023nap","url":null,"abstract":"Anti-N-methyl-D-aspartate receptor antibody and myelin oligodendrocyte glycoprotein antibody can coexist. Some patients have NMDAR encephalitis and MOG antibody disease successively. We report a rare case of MOGAD following anti-NMDAR encephalitis. Three years ago, a female of 44 years, our patient developed headache, mental disorder, and epilepsy. Cerebrospinal fluid was positive for NMDAR antibodies, and the patient’s symptoms improved after immunomodulatory treatment. Three months ago, the patient had a sudden loss of vision in the left eye. Orbital magnetic resonance imaging was supportive of left optic neuritis. Cerebrospinal fluid was positive for NMDAR and MOG antibodies. She was then diagnosed with MOGAD with anti-NMDAR encephalitis. In conclusion, when patients with anti-NMDAR encephalitis have demyelinating symptoms such as decreased vision, numbness or weakness of the limbs, it is necessary to consider whether they are combined with MOGAD.","PeriodicalId":49757,"journal":{"name":"Neurology Asia","volume":" ","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45620849","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: Although studies on the safety and efficacy of endoscopic third ventriculostomy (ETV) and ventriculoperitoneal shunt (VPS) have been conducted, the safety and efficacy for treating post- infective hydrocephalus (PIH) in pediatric patients have not been investigated using meta-analysis and thus remain controversial. Therefore, we conducted a meta-analysis to assess the safety and efficacy of ETV and VPS for PIH treatment and determine whether ETV is more appropriate than VPS for treating PIH in PP. Methods: We searched Pubmed, Embase, Web of Science, and the Cochrane Library databases up to January 2022. The quality of studies was assessed using the Cochrane Collaboration’s tool for assessing the risk of bias in randomized trials. A fixed-effect model was used for pooling analysis, and heterogeneity was assessed using I2. Results: Three randomized controlled trials involving 200 patients out of a total 254 identified studies were included. No significant differences were found between ETV and VPS in postoperative success rate (risk ratio RR: 0.89; 95% confidence interval CI: 0.72–1.10; p = 0.27), postoperative infection rate (RR: 0.68; 95% CI: 0.21–2.22; p = 0.52), postoperative blockage rate (RR: 0.90; 95% CI: 0.40–2.00; p = 0.80), complication rates (RR: 1.29; 95% CI: 0.45–3.71; p = 0.63), or mortality (RR: 1.31; 95% CI: 0.47–3.65; p = 0.60). However, patients who underwent VPS showed lower postoperative cerebrospinal fluid leakage than those who underwent ETV (RR: 9.00; 95% CI: 1.18–68.45; p = 0.03). Conclusions: VPS may be more beneficial for the treatment of PIH in pediatric patients.
背景：尽管已经对内镜下第三脑室造瘘术（ETV）和脑室-腹腔分流术（VPS）的安全性和有效性进行了研究，但尚未使用荟萃分析对儿童感染后脑积水（PIH）的治疗安全性和疗效进行研究，因此仍存在争议。因此，我们进行了一项荟萃分析，以评估ETV和VPS治疗妊高征的安全性和有效性，并确定ETV是否比VPS更适合治疗PP中的妊高征。方法：我们搜索了截至2022年1月的Pubmed、Embase、Web of Science和Cochrane Library数据库。使用Cochrane Collaboration的随机试验中评估偏倚风险的工具来评估研究质量。使用固定效应模型进行合并分析，并使用I2评估异质性。结果：在总共254项已确定的研究中，包括三项随机对照试验，涉及200名患者。ETV和VPS在术后成功率（风险比RR:0.89；95%置信区间CI:0.72–1.10；p=0.27）、术后感染率（RR:0.68；95%CI:0.21–2.22；p=0.52）、术前堵塞率（RR=0.90；95%CI0.40–2.00；p=0.80）、并发症发生率（RR:1.29；95%CI0.45–3.71；p=0.63）方面无显著差异，或死亡率（RR:1.31；95%CI:0.47–3.65；p=0.60）。然而，接受VPS的患者比接受ETV的患者术后脑脊液渗漏更低（RR:9.00；95%CI:1.18–68.45；p=0.03）。结论：VPS可能对儿童PIH的治疗更有益。
{"title":"Endoscopic third ventriculostomy versus ventriculoperitoneal shunt in pediatric patients with post-infective hydrocephalus: A meta-analysis of randomized controlled trials","authors":"Fenjie Lin, Xun Zhang, Ying-hua Rao, Shuchang Zheng, B. Liang, Ming-jun Qin","doi":"10.54029/2023dhw","DOIUrl":"https://doi.org/10.54029/2023dhw","url":null,"abstract":"Background: Although studies on the safety and efficacy of endoscopic third ventriculostomy (ETV) and ventriculoperitoneal shunt (VPS) have been conducted, the safety and efficacy for treating post- infective hydrocephalus (PIH) in pediatric patients have not been investigated using meta-analysis and thus remain controversial. Therefore, we conducted a meta-analysis to assess the safety and efficacy of ETV and VPS for PIH treatment and determine whether ETV is more appropriate than VPS for treating PIH in PP.\u0000Methods: We searched Pubmed, Embase, Web of Science, and the Cochrane Library databases up to January 2022. The quality of studies was assessed using the Cochrane Collaboration’s tool for assessing the risk of bias in randomized trials. A fixed-effect model was used for pooling analysis, and heterogeneity was assessed using I2.\u0000Results: Three randomized controlled trials involving 200 patients out of a total 254 identified studies were included. No significant differences were found between ETV and VPS in postoperative success rate (risk ratio RR: 0.89; 95% confidence interval CI: 0.72–1.10; p = 0.27), postoperative infection rate (RR: 0.68; 95% CI: 0.21–2.22; p = 0.52), postoperative blockage rate (RR: 0.90; 95% CI: 0.40–2.00; p = 0.80), complication rates (RR: 1.29; 95% CI: 0.45–3.71; p = 0.63), or mortality (RR: 1.31; 95% CI: 0.47–3.65; p = 0.60). However, patients who underwent VPS showed lower postoperative cerebrospinal fluid leakage than those who underwent ETV (RR: 9.00; 95% CI: 1.18–68.45; p = 0.03).\u0000Conclusions: VPS may be more beneficial for the treatment of PIH in pediatric patients.","PeriodicalId":49757,"journal":{"name":"Neurology Asia","volume":" ","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41479030","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}
Saba Ahmadpour Nazm, Z. Jahanafrooz, M. Bonyadi, Noushin Masoudi, Z. Nouri, M. Barzegar
Rett syndrome is an X-linked dominant neurodevelopmental disorder that occurs mostly in females. De novo mutations in the MECP2 gene have an important role in the appearance of the features of this syndrome. We planned to study spectrum of MECP2 mutations in Rett syndrome patients and their clinical symptoms. A cohort of 29 patients referred by neurologists from Iranian Azeri Turks was screened. Then direct sequencing was utilized to characterize the spectrum of mutations in the MECP2 gene in Rett syndrome patients. A total of 10 different mutations on MECP2 gene were detected in 22 patients. We identified 2 (9%) frameshift, 10 (45.64%) nonsense, 8 (36.4%) missense mutations, and 2(9%) large deletions. In this cohort, one of the detected deletions was novel, namely 1023-1096del74nt. Random X chromosome inactivation in females’ cells and different MECP2 mutations can cause a phenotypic variability between patients. This is the first report regarding the spectrum of MECP2 mutation and phenotypic spectrum in Iranian Azeri Turks with Rett syndrome. Our finding confirms a high mutation frequency (75.8%) of MECP2 gene in Iranian Rett syndrome patients.
{"title":"Spectrum of MECP2 mutations in Iranian Azeri Turkish Rett syndrome patients","authors":"Saba Ahmadpour Nazm, Z. Jahanafrooz, M. Bonyadi, Noushin Masoudi, Z. Nouri, M. Barzegar","doi":"10.54029/2023xvm","DOIUrl":"https://doi.org/10.54029/2023xvm","url":null,"abstract":"Rett syndrome is an X-linked dominant neurodevelopmental disorder that occurs mostly in females. De novo mutations in the MECP2 gene have an important role in the appearance of the features of this syndrome. We planned to study spectrum of MECP2 mutations in Rett syndrome patients and their clinical symptoms. A cohort of 29 patients referred by neurologists from Iranian Azeri Turks was screened. Then direct sequencing was utilized to characterize the spectrum of mutations in the MECP2 gene in Rett syndrome patients. A total of 10 different mutations on MECP2 gene were detected in 22 patients. We identified 2 (9%) frameshift, 10 (45.64%) nonsense, 8 (36.4%) missense mutations, and 2(9%) large deletions. In this cohort, one of the detected deletions was novel, namely 1023-1096del74nt. Random X chromosome inactivation in females’ cells and different MECP2 mutations can cause a phenotypic variability between patients. This is the first report regarding the spectrum of MECP2 mutation and phenotypic spectrum in Iranian Azeri Turks with Rett syndrome. Our finding confirms a high mutation frequency (75.8%) of MECP2 gene in Iranian Rett syndrome patients.","PeriodicalId":49757,"journal":{"name":"Neurology Asia","volume":" ","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41710241","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}
H. Demir, E. S. Seyhanli, Tülin Gesoğlu Demir, I. Koyuncu
Background & Objective: Acute ischemic stroke leads to the increased production of free radicals and reactive oxygen species in the tissue and plasma via various mechanisms. We aimed to investigate thiol balance and subfatin impairment in patients with minor ischemic stroke (MIS) compared with stroke-free controls. Methods: A total of 70 participants (35 patients and 35 healthy controls) were enrolled in this study. The investigation includes serum subfatin levels, native thiol, total thiol, native thiol-to-total thiol ratio, disulfide, the disulfide-to-native thiol ratio, and the disulfide-to-total thiol ratio. The blood samples were collected at the time of admission to the emergency department. Results: A total of 35 patients with MIS and 35 healthy controls were enrolled in this study. Mean ages of patients and control subjects are 64.5±10.6 and 64.3±5.9, respectively. 20 (57.1%) of both groups were male. The two groups were similar in terms of age (p > 0.912) and did not differ in subfatin levels (p = 0.247). Native thiol, total thiol, and the native thiol-to-total thiol ratio were significantly lower in the patients than in the controls (p < 0.001), whereas disulfide, the disulfide-to-native thiol ratio, and the disulfide-to-total thiol ratio were significantly higher in the controls. Conclusion: Thiol balance is impaired in patients with ischemic stroke, but it was uncertain about subfatin. Additional research required for subfatin in acute ischemic stroke.
{"title":"Subfatin levels and thiol balance in patients with stroke","authors":"H. Demir, E. S. Seyhanli, Tülin Gesoğlu Demir, I. Koyuncu","doi":"10.54029/2023aus","DOIUrl":"https://doi.org/10.54029/2023aus","url":null,"abstract":"Background & Objective: Acute ischemic stroke leads to the increased production of free radicals and reactive oxygen species in the tissue and plasma via various mechanisms. We aimed to investigate thiol balance and subfatin impairment in patients with minor ischemic stroke (MIS) compared with stroke-free controls.\u0000Methods: A total of 70 participants (35 patients and 35 healthy controls) were enrolled in this study. The investigation includes serum subfatin levels, native thiol, total thiol, native thiol-to-total thiol ratio, disulfide, the disulfide-to-native thiol ratio, and the disulfide-to-total thiol ratio. The blood samples were collected at the time of admission to the emergency department.\u0000Results: A total of 35 patients with MIS and 35 healthy controls were enrolled in this study. Mean ages of patients and control subjects are 64.5±10.6 and 64.3±5.9, respectively. 20 (57.1%) of both groups were male. The two groups were similar in terms of age (p > 0.912) and did not differ in subfatin levels (p = 0.247). Native thiol, total thiol, and the native thiol-to-total thiol ratio were significantly lower in the patients than in the controls (p < 0.001), whereas disulfide, the disulfide-to-native thiol ratio, and the disulfide-to-total thiol ratio were significantly higher in the controls.\u0000Conclusion: Thiol balance is impaired in patients with ischemic stroke, but it was uncertain about subfatin. Additional research required for subfatin in acute ischemic stroke.","PeriodicalId":49757,"journal":{"name":"Neurology Asia","volume":" ","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48917653","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}
Mukesh Rathod, A. Qavi, V. Mittal, Ajai Kumar Singh, Pradeep Kumar Maurya, Ashutosh Kumar Singh, A. Thacker, D. Kulshreshtha
Early diagnosis and treatment of tubercular meningitis (TBM) is one of the best predictors of survival. The smear testing of the cerebrospinal fluid (CSF) has a low sensitivity and cultures, though having higher sensitivity, take a long time in TBM diagnosis. The present study was done to evaluate the proportion of positive Gene Xpert test, a rapid nucleic acid amplification test, in clinically suspected patients with TBM. The results of Gene Xpert tests were then compared with the culture results. One hundred and fifty prospective patients with a clinical suspicion of TBM were classified as probable or possible TBM and underwent CSF examination for culture and Gene Xpert assay. Out of 124 patients available for statistical evaluation, 52 were in the probable and 72 in possible TBM group. The proportion of patients with Gene Xpert positivity were significantly more in probable compared to possible TBM (63.15% vs 36.85%, p<0.001). Twenty-eight patients had a positive culture result. The sensitivity of Gene Xpert relative to culture testing was 68.42%, specificity of 97.61%, a positive predictive value of 92.85% and a negative predictive value of 87.23%. Gene Xpert testing provided a rapid diagnosis in patients suspected with TBM. The high sensitivity and specificity of this test relative to culture testing is a strong indication that it should be included as one of the gold standard tests in patients with suspected TBM.
{"title":"Gene Xpert MTB/RIF assay in patients with clinical suspicion of tuberculous meningitis","authors":"Mukesh Rathod, A. Qavi, V. Mittal, Ajai Kumar Singh, Pradeep Kumar Maurya, Ashutosh Kumar Singh, A. Thacker, D. Kulshreshtha","doi":"10.54029/2023ktz","DOIUrl":"https://doi.org/10.54029/2023ktz","url":null,"abstract":"Early diagnosis and treatment of tubercular meningitis (TBM) is one of the best predictors of survival. The smear testing of the cerebrospinal fluid (CSF) has a low sensitivity and cultures, though having higher sensitivity, take a long time in TBM diagnosis. The present study was done to evaluate the proportion of positive Gene Xpert test, a rapid nucleic acid amplification test, in clinically suspected patients with TBM. The results of Gene Xpert tests were then compared with the culture results. One hundred and fifty prospective patients with a clinical suspicion of TBM were classified as probable or possible TBM and underwent CSF examination for culture and Gene Xpert assay. Out of 124 patients available for statistical evaluation, 52 were in the probable and 72 in possible TBM group. The proportion of patients with Gene Xpert positivity were significantly more in probable compared to possible TBM (63.15% vs 36.85%, p<0.001). Twenty-eight patients had a positive culture result. The sensitivity of Gene Xpert relative to culture testing was 68.42%, specificity of 97.61%, a positive predictive value of 92.85% and a negative predictive value of 87.23%. Gene Xpert testing provided a rapid diagnosis in patients suspected with TBM. The high sensitivity and specificity of this test relative to culture testing is a strong indication that it should be included as one of the gold standard tests in patients with suspected TBM.","PeriodicalId":49757,"journal":{"name":"Neurology Asia","volume":" ","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47498277","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}
We report a case of a 59-year-old male who had acute, severe, rapidly progressive ascending weakness, which progressed to difficulty of breathing in a span of twelve hours. Neurophysiologic studies showed acute denervation compatible with acute motor axonal neuropathy. He was started on intravenous immunoglobulin therapy on the first day of hospitalization and completed five days of treatment but still developed decrease in sensorium and bilateral ophthalmoplegia. Imaging studies of the brain and cervical spinal cord showed findings that are non-contributory to the clinical presentation, leading to the consideration of Bickerstaff’s brainstem encephalitis. Pulse therapy with high dose methylprednisolone for five days was given however, despite maximal treatment, he expired on the 12th day of illness. Post-mortem immunohistochemical studies of the pons and sural nerve showed areas of inflammation and demyelination in both areas, suggesting combined central and peripheral demyelination in a single patient. Literature review shows that our patient presents with atypical clinical and diagnostic features, different from Bickerstaff’s brainstem encephalitis and combined central and peripheral demyelination, suggesting another disease entity presenting as acute fulminant neuropathy.
{"title":"Autopsy evidence of central and peripheral demyelination in a case of Guillain-Barré syndrome/ Bickerstaff brainstem encephalitis overlap syndrome","authors":"A. Cabungcal, Ma Luisa Gwenn Pabellano‐Tiongson","doi":"10.54029/2023wtv","DOIUrl":"https://doi.org/10.54029/2023wtv","url":null,"abstract":"We report a case of a 59-year-old male who had acute, severe, rapidly progressive ascending weakness, which progressed to difficulty of breathing in a span of twelve hours. Neurophysiologic studies showed acute denervation compatible with acute motor axonal neuropathy. He was started on intravenous immunoglobulin therapy on the first day of hospitalization and completed five days of treatment but still developed decrease in sensorium and bilateral ophthalmoplegia. Imaging studies of the brain and cervical spinal cord showed findings that are non-contributory to the clinical presentation, leading to the consideration of Bickerstaff’s brainstem encephalitis. Pulse therapy with high dose methylprednisolone for five days was given however, despite maximal treatment, he expired on the 12th day of illness. Post-mortem immunohistochemical studies of the pons and sural nerve showed areas of inflammation and demyelination in both areas, suggesting combined central and peripheral demyelination in a single patient. Literature review shows that our patient presents with atypical clinical and diagnostic features, different from Bickerstaff’s brainstem encephalitis and combined central and peripheral demyelination, suggesting another disease entity presenting as acute fulminant neuropathy.","PeriodicalId":49757,"journal":{"name":"Neurology Asia","volume":" ","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43008619","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}
Z. Bahtiyarca, Ö. Karaahmet, M. Panpallı Ateş, Ece Ünlü Akyüz
Background & Objective: This study aimed to determine the relationship between COVID-19 infection/ vaccination and Guillain-Barré syndrome (GBS) and to compare clinical characteristics and functional outcomes between COVID-19-related and non-COVID-19 GBS patients. Method: The medical files of the patients who sought treatment with the diagnosis of GBS between March 2020 and July 2022 were retrospectively analyzed. The patients were divided into groups as COVID-19-related GBS (C-GBS) and non-COVID-19 GBS (NC-GBS). Demographic and clinical characteristics, neurological examination findings, treatment protocols, and outcomes, including functional status, ambulation level, independence in daily living activities, and anxiety-depression levels of the patients with GBS, were recorded. Results: A total of 25 patients were included in the study. GBS was found to be associated with COVID-19 in 9 (36%) patients. Among them, 5 (20%) patients developed GBS after COVID-19 infection and 4 (16%) after the COVID-19 vaccine. The latency between COVID-19 infection and the onset of GBS ranged from 7 to 60 days, and the latency between vaccination and the onset of GBS ranged from 3 to 60 days. The clinical presentation and features, disease severity, and electrodiagnostic patterns of C-GBS patients were similar to NC-GBS patients. Also, there was no significant difference between patients with C-GBS and NC-GBS regarding functional status, ambulation level, functional independence in daily activities, and anxiety-depression levels. Conclusion: GBS is not uncommon in COVID-19. In this study, 20% of GBS cases admitted to our hospital during the pandemic seem to be associated with COVID-19 infection and 16% with COVID-19 vaccination. However, clinical features and functional outcomes of C-GBS and NC-GBS cases are similar.
{"title":"Assessment of the relationship between COVID -19 and Guillain Barre syndrome: a single center pandemic experience","authors":"Z. Bahtiyarca, Ö. Karaahmet, M. Panpallı Ateş, Ece Ünlü Akyüz","doi":"10.54029/2023fth","DOIUrl":"https://doi.org/10.54029/2023fth","url":null,"abstract":"Background & Objective: This study aimed to determine the relationship between COVID-19 infection/ vaccination and Guillain-Barré syndrome (GBS) and to compare clinical characteristics and functional outcomes between COVID-19-related and non-COVID-19 GBS patients.\u0000Method: The medical files of the patients who sought treatment with the diagnosis of GBS between March 2020 and July 2022 were retrospectively analyzed. The patients were divided into groups as COVID-19-related GBS (C-GBS) and non-COVID-19 GBS (NC-GBS). Demographic and clinical characteristics, neurological examination findings, treatment protocols, and outcomes, including functional status, ambulation level, independence in daily living activities, and anxiety-depression levels of the patients with GBS, were recorded.\u0000Results: A total of 25 patients were included in the study. GBS was found to be associated with COVID-19 in 9 (36%) patients. Among them, 5 (20%) patients developed GBS after COVID-19 infection and 4 (16%) after the COVID-19 vaccine. The latency between COVID-19 infection and the onset of GBS ranged from 7 to 60 days, and the latency between vaccination and the onset of GBS ranged from 3 to 60 days. The clinical presentation and features, disease severity, and electrodiagnostic patterns of C-GBS patients were similar to NC-GBS patients. Also, there was no significant difference between patients with C-GBS and NC-GBS regarding functional status, ambulation level, functional independence in daily activities, and anxiety-depression levels.\u0000Conclusion: GBS is not uncommon in COVID-19. In this study, 20% of GBS cases admitted to our hospital during the pandemic seem to be associated with COVID-19 infection and 16% with COVID-19 vaccination. However, clinical features and functional outcomes of C-GBS and NC-GBS cases are similar.","PeriodicalId":49757,"journal":{"name":"Neurology Asia","volume":" ","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41736541","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}
Syntaxin-binding protein 1, encoded by STXBP1, is widely expressed in the brain and plays a critical function in regulating neurotransmitter release and synaptic vesicle fusion by binding to and altering the conformation of syntaxin-1A (STX1A). According to the previous reports, pathogenic loss-of- function mutations in this gene cause a variety of different forms of epilepsies, the majority of which occur during childhood. There may also be spasticity, dystonia, tremors, choreiform and stereotyped movements, ataxia, and hypotonia. The disease’s phenotypical spectrum remains unknown. We report here a de novo mutation (c.1162C > T: p.R388X) in exon 14 of the STXBP1 gene that causes muscular hypotonia, speech and walking delays, intellectual disability, and tremors in a 5-year-old boy. Brain magnetic resonance imaging was normal. This variant was identified as de novo (maternal and paternal confirmed). This is the first Turkish report of a patient with a truncating mutation in STXBP1 that does not show epilepsy, thus expanding the clinical spectrum associated with STXBP1 gene disorders.
Syntaxin-binding protein 1由STXBP1编码，在大脑中广泛表达，通过结合并改变syntaxin-1A (STX1A)的构象，在调节神经递质释放和突触囊泡融合中起关键作用。根据先前的报道，该基因的致病性功能丧失突变可导致多种不同形式的癫痫，其中大多数发生在儿童时期。也可能出现痉挛、肌张力障碍、震颤、舞蹈样和刻板运动、共济失调和张力减退。这种疾病的表型谱尚不清楚。我们在此报告了STXBP1基因第14外显子的一个新突变(c.1162C > T: p.R388X)，该突变导致一名5岁男孩肌肉张力低下、语言和行走迟缓、智力残疾和震颤。脑磁共振成像正常。该变异被鉴定为从头发生(经母体和父亲确认)。这是土耳其首次报道STXBP1基因突变截断但不表现为癫痫的患者，从而扩大了与STXBP1基因疾病相关的临床谱。
{"title":"De novo STXBP1 mutation in a child with hypotonia, intellectual disability, tremor and without epilepsy","authors":"S. Yimenicioglu, Ayca Kocaaga","doi":"10.54029/2023mru","DOIUrl":"https://doi.org/10.54029/2023mru","url":null,"abstract":"Syntaxin-binding protein 1, encoded by STXBP1, is widely expressed in the brain and plays a critical function in regulating neurotransmitter release and synaptic vesicle fusion by binding to and altering the conformation of syntaxin-1A (STX1A). According to the previous reports, pathogenic loss-of- function mutations in this gene cause a variety of different forms of epilepsies, the majority of which occur during childhood. There may also be spasticity, dystonia, tremors, choreiform and stereotyped movements, ataxia, and hypotonia. The disease’s phenotypical spectrum remains unknown. We report here a de novo mutation (c.1162C > T: p.R388X) in exon 14 of the STXBP1 gene that causes muscular hypotonia, speech and walking delays, intellectual disability, and tremors in a 5-year-old boy. Brain magnetic resonance imaging was normal. This variant was identified as de novo (maternal and paternal confirmed). This is the first Turkish report of a patient with a truncating mutation in STXBP1 that does not show epilepsy, thus expanding the clinical spectrum associated with STXBP1 gene disorders.","PeriodicalId":49757,"journal":{"name":"Neurology Asia","volume":" ","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49011027","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: Treadmill training (TT) is used for several targets as in walking speed and endurance in rehabilitation programs of children with cerebral palsy (CP). However, its effects on postural stability have not been fully explored. The aim of this study was to investigate the effects of unsupported TT on postural control (PC) parameters and balance in children with spastic diplegic CP. Methods: Twelve children with CP, level I-II according to Gross-Motor-Function-Classification- System (GMFCS) were included. Participants were divided into two groups using randomized-sampling method. The study was designed as a cross-over study. In the first phase, the first group underwent routine physiotherapy-rehabilitation program (PTR) 3 sessions/week, 45 minutes per session, for 12 weeks. In the second group, 20 minutes of TT starting with 0.5 km/h speed, was added to the same PTR (n=6). At the end of 12 week, 4-week-long wash-out period was given. After this 4 weeks period, both groups crossed-over for another 12 weeks at the second phase of therapy. All tests was applied at baseline and at end of the first and second phases. PC was evaluated with Balance-Master computerized posturography (Neurocom Inc.) which consisted of tests of modified-clinical-sensory- balance-interaction (MCSBT), weight-shifting-in-standing (WSST), limits-of-stability (LoST) and rhythmic-weight-shifting (RWST). Results: The two groups were similar in age, body composition, GMFCS Levels and spasticity levels before the treatment and after the wash-period (p>0,05). After TT, there were significant improvements in PC parameters, MCSBT: composite-balance-score (p=0.02), center of gravity alignment (p=0.02); WSST: symmetry (p=0.03); LoST: backward weight-shifting (p=0,02), end point reaching (p=0.02-0.04), maximum-orientation (p=0.02-0.04); RWST: direction- control (p=0.02-0.04), on-axis-velocity (p=0.02-0.04). Conclusion: Including TT in PTR treatment program can enhance PC and balance in children with CP.
{"title":"The effects of treadmill training on postural control and balance in children with spastic diplegic cerebral palsy: A cross-over controlled study","authors":"Cemil Ozal, S. Aksoy, M. Kerem Gunel","doi":"10.54029/2023wye","DOIUrl":"https://doi.org/10.54029/2023wye","url":null,"abstract":"Background & Objective: Treadmill training (TT) is used for several targets as in walking speed and endurance in rehabilitation programs of children with cerebral palsy (CP). However, its effects on postural stability have not been fully explored. The aim of this study was to investigate the effects of unsupported TT on postural control (PC) parameters and balance in children with spastic diplegic CP.\u0000Methods: Twelve children with CP, level I-II according to Gross-Motor-Function-Classification- System (GMFCS) were included. Participants were divided into two groups using randomized-sampling method. The study was designed as a cross-over study. In the first phase, the first group underwent routine physiotherapy-rehabilitation program (PTR) 3 sessions/week, 45 minutes per session, for 12 weeks. In the second group, 20 minutes of TT starting with 0.5 km/h speed, was added to the same PTR (n=6). At the end of 12 week, 4-week-long wash-out period was given. After this 4 weeks period, both groups crossed-over for another 12 weeks at the second phase of therapy. All tests was applied at baseline and at end of the first and second phases. PC was evaluated with Balance-Master computerized posturography (Neurocom Inc.) which consisted of tests of modified-clinical-sensory- balance-interaction (MCSBT), weight-shifting-in-standing (WSST), limits-of-stability (LoST) and rhythmic-weight-shifting (RWST).\u0000Results: The two groups were similar in age, body composition, GMFCS Levels and spasticity levels before the treatment and after the wash-period (p>0,05). After TT, there were significant improvements in PC parameters, MCSBT: composite-balance-score (p=0.02), center of gravity alignment (p=0.02); WSST: symmetry (p=0.03); LoST: backward weight-shifting (p=0,02), end point reaching (p=0.02-0.04), maximum-orientation (p=0.02-0.04); RWST: direction- control (p=0.02-0.04), on-axis-velocity (p=0.02-0.04).\u0000Conclusion: Including TT in PTR treatment program can enhance PC and balance in children with CP.","PeriodicalId":49757,"journal":{"name":"Neurology Asia","volume":" ","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48869145","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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