首页 > 最新文献

Annals of Indian Academy of Neurology最新文献

英文 中文
Twist of Fate: Rare Vascular Pattern Behind Stroke in a Septuagenarian. 命运的转折:七旬老人中风背后的罕见血管模式
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-07-01 Epub Date: 2024-08-20 DOI: 10.4103/aian.aian_327_24
Archita Makharia, Savyasachi Jain, Shailesh Gaikwad, Awadh K Pandit, Ayush Agarwal, Divyani Garg, Achal K Srivastava, Divya M Radhakrishnan
{"title":"Twist of Fate: Rare Vascular Pattern Behind Stroke in a Septuagenarian.","authors":"Archita Makharia, Savyasachi Jain, Shailesh Gaikwad, Awadh K Pandit, Ayush Agarwal, Divyani Garg, Achal K Srivastava, Divya M Radhakrishnan","doi":"10.4103/aian.aian_327_24","DOIUrl":"10.4103/aian.aian_327_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":"27 4","pages":"413-415"},"PeriodicalIF":1.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11418787/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142085950","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Diagnostic Value of Serum Procalcitonin, CSF Neutrophil-to-lymphocyte Ratio, and CSF Lactate in Pediatric Bacterial Meningoencephalitis. 小儿细菌性脑膜脑炎中血清降钙素原、脑脊液中性粒细胞与淋巴细胞比率和脑脊液乳酸盐的诊断价值
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-07-01 Epub Date: 2024-08-16 DOI: 10.4103/aian.aian_384_24
Andika Priamas Nugrahanto, Agung Triono, Rais Aliffandy Damroni, Elisabeth Siti Herini

Background: Bacterial meningoencephalitis presents significant diagnostic and therapeutic challenges with high morbidity and mortality in pediatric populations worldwide. The early and precise identification of the etiology of these infections is essential for effective treatment and better patient results. Traditional diagnostic methods, while effective, can be time-consuming. This manuscript aims to evaluate the accuracy of serum procalcitonin (PCT), cerebrospinal fluid (CSF) neutrophil-to-lymphocyte ratio (NLR), and CSF lactate as biomarkers in pediatric bacterial meningoencephalitis.

Methods: From March 2021 to November 2023, a cross-sectional study was conducted at Dr. Sardjito General Hospital, a tertiary referral hospital in Yogyakarta, Indonesia. One hundred ninety-seven patients underwent complete clinical and laboratory examinations before being divided into bacterial and non-bacterial groups based on CSF culture results and cytochemical profiles. The diagnostic accuracy was evaluated by the receiver operating characteristic curve using Statistical Package for the Social Sciences.

Results: Serum PCT, CSF NLR, and CSF lactate levels showed a notable increase in the bacterial meningoencephalitis group (mean = 4.63 ± 5.52 ng/ml, 4.39 ± 6.68, and 3.59 ± 2.38 mmol/l, respectively) compared to the viral/aseptic group (mean = 0.51 ± 0.88 ng/ml, 0.33 ± 0.95, and 2.25 ± 2.33 mmol/l, respectively) ( P < 0.001). Serum PCT and CSF NLR combined measurement had high sensitivity (86.4%) and specificity (88.6%), with an area under the curve of 0.929 (95% confidence interval, 0.873-0.985), surpassing other tested biomarkers.

Conclusion: The findings suggest that combining serum PCT and CSF NLR could be beneficial for early diagnosis, potentially allowing timely, targeted treatment and differentiating between bacterial and non-bacterial infections, ultimately improving patient outcomes.

背景:细菌性脑膜脑炎给诊断和治疗带来了巨大挑战,在全球儿科人群中具有很高的发病率和死亡率。及早、准确地确定这些感染的病因对于有效治疗和改善患者疗效至关重要。传统的诊断方法虽然有效,但耗时较长。本稿件旨在评估血清降钙素原(PCT)、脑脊液(CSF)中性粒细胞与淋巴细胞比值(NLR)和脑脊液乳酸盐作为小儿细菌性脑膜脑炎生物标志物的准确性:2021年3月至2023年11月,印度尼西亚日惹的一家三级转诊医院--萨吉托博士综合医院开展了一项横断面研究。197名患者接受了完整的临床和实验室检查,然后根据脑脊液培养结果和细胞化学图谱分为细菌组和非细菌组。诊断准确性通过使用社会科学统计软件包(Statistical Package for the Social Sciences)的接收者操作特征曲线(receiver operating characteristic curve)进行评估:细菌性脑膜脑炎组(平均值分别为 4.63 ± 5.52 ng/ml、4.39 ± 6.68 和 3.59 ± 2.38 mmol/l)的血清 PCT、CSF NLR 和 CSF 乳酸水平与病毒性/化脓性脑膜脑炎组(平均值分别为 0.51 ± 0.88 ng/ml、0.33 ± 0.95 和 2.25 ± 2.33 mmol/l)相比明显升高(P < 0.001)。血清 PCT 和 CSF NLR 联合测量的灵敏度(86.4%)和特异性(88.6%)都很高,曲线下面积为 0.929(95% 置信区间,0.873-0.985),超过了其他测试的生物标志物:研究结果表明,将血清 PCT 和脑脊液 NLR 结合起来可用于早期诊断,及时进行有针对性的治疗,并区分细菌感染和非细菌感染,最终改善患者的预后。
{"title":"Diagnostic Value of Serum Procalcitonin, CSF Neutrophil-to-lymphocyte Ratio, and CSF Lactate in Pediatric Bacterial Meningoencephalitis.","authors":"Andika Priamas Nugrahanto, Agung Triono, Rais Aliffandy Damroni, Elisabeth Siti Herini","doi":"10.4103/aian.aian_384_24","DOIUrl":"10.4103/aian.aian_384_24","url":null,"abstract":"<p><strong>Background: </strong>Bacterial meningoencephalitis presents significant diagnostic and therapeutic challenges with high morbidity and mortality in pediatric populations worldwide. The early and precise identification of the etiology of these infections is essential for effective treatment and better patient results. Traditional diagnostic methods, while effective, can be time-consuming. This manuscript aims to evaluate the accuracy of serum procalcitonin (PCT), cerebrospinal fluid (CSF) neutrophil-to-lymphocyte ratio (NLR), and CSF lactate as biomarkers in pediatric bacterial meningoencephalitis.</p><p><strong>Methods: </strong>From March 2021 to November 2023, a cross-sectional study was conducted at Dr. Sardjito General Hospital, a tertiary referral hospital in Yogyakarta, Indonesia. One hundred ninety-seven patients underwent complete clinical and laboratory examinations before being divided into bacterial and non-bacterial groups based on CSF culture results and cytochemical profiles. The diagnostic accuracy was evaluated by the receiver operating characteristic curve using Statistical Package for the Social Sciences.</p><p><strong>Results: </strong>Serum PCT, CSF NLR, and CSF lactate levels showed a notable increase in the bacterial meningoencephalitis group (mean = 4.63 ± 5.52 ng/ml, 4.39 ± 6.68, and 3.59 ± 2.38 mmol/l, respectively) compared to the viral/aseptic group (mean = 0.51 ± 0.88 ng/ml, 0.33 ± 0.95, and 2.25 ± 2.33 mmol/l, respectively) ( P < 0.001). Serum PCT and CSF NLR combined measurement had high sensitivity (86.4%) and specificity (88.6%), with an area under the curve of 0.929 (95% confidence interval, 0.873-0.985), surpassing other tested biomarkers.</p><p><strong>Conclusion: </strong>The findings suggest that combining serum PCT and CSF NLR could be beneficial for early diagnosis, potentially allowing timely, targeted treatment and differentiating between bacterial and non-bacterial infections, ultimately improving patient outcomes.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"371-377"},"PeriodicalIF":1.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11418776/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141987263","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Navigating the Nexus: Acute Kidney Injury in Acute Stroke - A Prospective Cohort Study. 驾驭联系:急性中风的急性肾损伤--前瞻性队列研究。
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-07-01 Epub Date: 2024-08-22 DOI: 10.4103/aian.aian_177_24
Sameer Arora, Arpit Agrawal, Venugopalan Y Vishnu, Mamta B Singh, Vinay Goyal, Padma M V Srivastava

Background: Acute kidney injury (AKI) is prevalent in patients with acute stroke. Although AKI is linked to poor clinical outcomes, data about its incidence and effect on stroke outcomes is limited.

Methods: This was a prospective observational study carried out at a single tertiary care center that analyzed the data of 204 consecutive subjects with acute ischemic stroke and intracerebral hemorrhage. Considering serum creatinine at admission as the baseline, AKI was defined as a rise in serum creatinine value of 0.3 mg/dl over 48 h or a percentage increase of at least 50% from baseline over 7 days during hospitalization. The primary outcome was to measure the prevalence of AKI in patients with acute stroke. Secondary outcome measures were all-cause mortality, duration of hospital stay, need for dialysis, and comparison of outcomes in ischemic and hemorrhagic stroke. For both the stroke subtypes, we employed a multivariate logistic regression model, with AKI and hospital mortality being the outcomes. Covariates included gender, age, ventilatory requirement, duration of hospital stay, and National Institutes of Health Stroke Scale score at admission.

Results: There were 144 cases of ischemic stroke with 12 deaths (8.3%) and 60 cases of intracranial hemorrhage (ICH) with 22 deaths (36.7%). The mean age was 55 years, 72.6% were males, and AKI complicated 34% of ischemic stroke and 66.7% of ICH hospitalizations. AKI was linked to increased hospital mortality from ischemic stroke (odds ratio [OR] 27.21, 95% CI 3.39-218.13) and hemorrhagic stroke (OR 5.12, 95% CI 1.29-20.28) in multivariate analysis stratified by stroke type.

Conclusions: AKI complicates stroke frequently and increases hospital mortality. Additional studies are required to assess if the association is causal and if remedies to prevent AKI would decrease mortality.

背景:急性肾损伤(AKI)在急性卒中患者中很常见。虽然 AKI 与不良临床预后有关,但有关其发病率及其对中风预后影响的数据却很有限:这是一项前瞻性观察研究,在一家三级医疗中心进行,分析了 204 名急性缺血性卒中和脑出血患者的数据。以入院时的血清肌酐为基线,住院 7 天内血清肌酐值在 48 小时内上升 0.3 mg/dl,或比基线上升至少 50%,即定义为 AKI。主要结果是测量急性脑卒中患者中 AKI 的发生率。次要结果指标包括全因死亡率、住院时间、透析需求以及缺血性和出血性中风的结果比较。对于两种中风亚型,我们都采用了多变量逻辑回归模型,以 AKI 和住院死亡率为结果。协变量包括性别、年龄、呼吸机需求、住院时间和入院时美国国立卫生研究院卒中量表评分:结果:144 例缺血性中风患者中有 12 例死亡(8.3%),60 例颅内出血(ICH)患者中有 22 例死亡(36.7%)。平均年龄为 55 岁,72.6% 为男性,34% 的缺血性中风和 66.7% 的 ICH 住院病例合并有 AKI。在按卒中类型分层的多变量分析中,AKI 与缺血性卒中住院死亡率(几率比 [OR] 27.21,95% CI 3.39-218.13)和出血性卒中住院死亡率(OR 5.12,95% CI 1.29-20.28)的增加有关:结论:AKI 常常并发中风并增加住院死亡率。结论:AKI 常常并发中风并增加住院死亡率,需要更多的研究来评估两者之间是否存在因果关系,以及预防 AKI 的措施是否会降低死亡率。
{"title":"Navigating the Nexus: Acute Kidney Injury in Acute Stroke - A Prospective Cohort Study.","authors":"Sameer Arora, Arpit Agrawal, Venugopalan Y Vishnu, Mamta B Singh, Vinay Goyal, Padma M V Srivastava","doi":"10.4103/aian.aian_177_24","DOIUrl":"10.4103/aian.aian_177_24","url":null,"abstract":"<p><strong>Background: </strong>Acute kidney injury (AKI) is prevalent in patients with acute stroke. Although AKI is linked to poor clinical outcomes, data about its incidence and effect on stroke outcomes is limited.</p><p><strong>Methods: </strong>This was a prospective observational study carried out at a single tertiary care center that analyzed the data of 204 consecutive subjects with acute ischemic stroke and intracerebral hemorrhage. Considering serum creatinine at admission as the baseline, AKI was defined as a rise in serum creatinine value of 0.3 mg/dl over 48 h or a percentage increase of at least 50% from baseline over 7 days during hospitalization. The primary outcome was to measure the prevalence of AKI in patients with acute stroke. Secondary outcome measures were all-cause mortality, duration of hospital stay, need for dialysis, and comparison of outcomes in ischemic and hemorrhagic stroke. For both the stroke subtypes, we employed a multivariate logistic regression model, with AKI and hospital mortality being the outcomes. Covariates included gender, age, ventilatory requirement, duration of hospital stay, and National Institutes of Health Stroke Scale score at admission.</p><p><strong>Results: </strong>There were 144 cases of ischemic stroke with 12 deaths (8.3%) and 60 cases of intracranial hemorrhage (ICH) with 22 deaths (36.7%). The mean age was 55 years, 72.6% were males, and AKI complicated 34% of ischemic stroke and 66.7% of ICH hospitalizations. AKI was linked to increased hospital mortality from ischemic stroke (odds ratio [OR] 27.21, 95% CI 3.39-218.13) and hemorrhagic stroke (OR 5.12, 95% CI 1.29-20.28) in multivariate analysis stratified by stroke type.</p><p><strong>Conclusions: </strong>AKI complicates stroke frequently and increases hospital mortality. Additional studies are required to assess if the association is causal and if remedies to prevent AKI would decrease mortality.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"384-392"},"PeriodicalIF":1.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11418761/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142016137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Safety and Efficacy of Injection Tenecteplase in 4.5 to 24 Hours Imaging Eligible Window Patients with Acute Ischemic Stroke (EAST-AIS) - Study Protocol. 注射替奈普酶在 4.5 至 24 小时内成像符合条件的急性缺血性卒中窗口期患者的安全性和有效性(EAST-AIS)--研究协议。
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-07-01 Epub Date: 2024-08-01 DOI: 10.4103/aian.aian_23_24
Awadh Kishor Pandit, Arti Jatwani, Poorvi Tangri, Madakasira Vasantha Padma Srivastava, Rohit Bhatia, Shashank Sharad Kale, Shailesh Gaikwad, Achal Kumar Srivastava, Ajay Garg, Leve Sebastian Joseph, Deepti Vibha, Venugopalan Y Vishnu, Rajesh Kumar Singh, Divya M Radhakrishnan, Animesh Das, Ayush Agarwal

Background and aims: Tenecteplase is used as the standard of care treatment for thrombolysis in acute ischemic stroke (AIS) patients within 4.5 h of symptom onset. Documented reports were less certain to claim the benefits of it in an extended window period. EAST-AIS (CTRI/2022/03/040718) trial is designed to determine the success rate of thrombolysis in an extended window period for good clinical outcomes.

Study design: It is a randomized, placebo-controlled trial of tenecteplase administered within 4.5-24 h of stroke onset (with or without large vessel occlusion) based on evidence of salvageable tissue through baseline computed tomography perfusion (CTP) or magnetic resonance imaging (MRI) scan. Criteria of patient inclusion are as follows: patients of both genders (male and female), age >18 years, pre-stroke modified Ranking Scale (mRS) <2, baseline NIHSS >5, CTP showing penumbra-ischemic core ratio >1.8, absolute difference in volume >10 ml, and ischemic core volume <70 ml. The sample size for the study is 100 patients: 50 in the tenecteplase arm (0.25 mg/kg body weight; maximum- 25 mg) and 50 in the placebo arm (controls).

Study outcomes: The study's primary objective is safety endpoints along with the efficacy of tenecteplase assessed using the mRS score at 90 days of stroke onset.

Conclusion: The result obtained from EAST-AIS will determine the safety and efficacy of tenecteplase injection administered 4.5-24 h following the symptom onset for AIS patients within the territory of Internal Carotid Artery (ICA), Middle Cerebral Artery (MCA), or Anterior Cerebral Artery (ACA) occlusion.

背景和目的:特奈普酶是急性缺血性卒中(AIS)患者在症状出现后 4.5 小时内进行溶栓治疗的标准疗法。有文献报道不太确定在延长的窗口期内使用该疗法的益处。EAST-AIS(CTRI/2022/03/040718)试验旨在确定延长窗口期溶栓的成功率,以获得良好的临床效果:研究设计:这是一项随机、安慰剂对照试验,根据基线计算机断层扫描灌注(CTP)或磁共振成像(MRI)扫描显示的可挽救组织证据,在中风发作(伴有或不伴有大血管闭塞)后 4.5-24 小时内给予替奈普酶。纳入患者的标准如下:男女患者均可,年龄大于 18 岁,卒中前修正排名量表(mRS)为 5,CTP 显示半影-缺血核心比大于 1.8,体积绝对差值大于 10 毫升,缺血核心体积 研究结果:研究的首要目标是安全性终点,同时使用中风发作 90 天后的 mRS 评分评估替奈普酶的疗效:EAST-AIS的研究结果将确定颈内动脉(ICA)、大脑中动脉(MCA)或大脑前动脉(ACA)闭塞区域内的AIS患者在症状发作后4.5-24小时注射替奈普酶的安全性和有效性。
{"title":"Safety and Efficacy of Injection Tenecteplase in 4.5 to 24 Hours Imaging Eligible Window Patients with Acute Ischemic Stroke (EAST-AIS) - Study Protocol.","authors":"Awadh Kishor Pandit, Arti Jatwani, Poorvi Tangri, Madakasira Vasantha Padma Srivastava, Rohit Bhatia, Shashank Sharad Kale, Shailesh Gaikwad, Achal Kumar Srivastava, Ajay Garg, Leve Sebastian Joseph, Deepti Vibha, Venugopalan Y Vishnu, Rajesh Kumar Singh, Divya M Radhakrishnan, Animesh Das, Ayush Agarwal","doi":"10.4103/aian.aian_23_24","DOIUrl":"10.4103/aian.aian_23_24","url":null,"abstract":"<p><strong>Background and aims: </strong>Tenecteplase is used as the standard of care treatment for thrombolysis in acute ischemic stroke (AIS) patients within 4.5 h of symptom onset. Documented reports were less certain to claim the benefits of it in an extended window period. EAST-AIS (CTRI/2022/03/040718) trial is designed to determine the success rate of thrombolysis in an extended window period for good clinical outcomes.</p><p><strong>Study design: </strong>It is a randomized, placebo-controlled trial of tenecteplase administered within 4.5-24 h of stroke onset (with or without large vessel occlusion) based on evidence of salvageable tissue through baseline computed tomography perfusion (CTP) or magnetic resonance imaging (MRI) scan. Criteria of patient inclusion are as follows: patients of both genders (male and female), age >18 years, pre-stroke modified Ranking Scale (mRS) <2, baseline NIHSS >5, CTP showing penumbra-ischemic core ratio >1.8, absolute difference in volume >10 ml, and ischemic core volume <70 ml. The sample size for the study is 100 patients: 50 in the tenecteplase arm (0.25 mg/kg body weight; maximum- 25 mg) and 50 in the placebo arm (controls).</p><p><strong>Study outcomes: </strong>The study's primary objective is safety endpoints along with the efficacy of tenecteplase assessed using the mRS score at 90 days of stroke onset.</p><p><strong>Conclusion: </strong>The result obtained from EAST-AIS will determine the safety and efficacy of tenecteplase injection administered 4.5-24 h following the symptom onset for AIS patients within the territory of Internal Carotid Artery (ICA), Middle Cerebral Artery (MCA), or Anterior Cerebral Artery (ACA) occlusion.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":"27 4","pages":"408-412"},"PeriodicalIF":1.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11418772/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142085948","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Type 1 Renal Tubular Acidosis in Wilson's Disease. 威尔逊氏病的 1 型肾小管酸中毒
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-07-01 Epub Date: 2024-08-01 DOI: 10.4103/aian.aian_159_24
Abinash Swain, Sanjeev Kumar Bhoi, Menka Jha, Priyanka Samal, Suprava Naik, Biswamohan Mishra, Nikilesh Pradhan, Gautom Kumar Saharia
{"title":"Type 1 Renal Tubular Acidosis in Wilson's Disease.","authors":"Abinash Swain, Sanjeev Kumar Bhoi, Menka Jha, Priyanka Samal, Suprava Naik, Biswamohan Mishra, Nikilesh Pradhan, Gautom Kumar Saharia","doi":"10.4103/aian.aian_159_24","DOIUrl":"10.4103/aian.aian_159_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"460-462"},"PeriodicalIF":1.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11418773/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141858888","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Severe Developmental Delay and Behavior Abnormalities in a Patient with De Novo CAMK2B Mutation: A Case Report and Literature Review. 一名新CAMK2B突变患者的严重发育迟缓和行为异常:病例报告与文献综述
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-07-01 Epub Date: 2024-08-08 DOI: 10.4103/aian.aian_118_24
Katherynn K Zhang, Charles A Rupar, Chitra Prasad

The calcium/calmodulin-dependent protein kinase II-beta ( CAMK2B ) gene is important for calcium signaling and glutamatergic synapses, which impacts neuroplasticity and learning. Mutations in the CAMK2B gene, which cause autosomal dominant mental retardation 54 (Online Mendelian Inheritance in Man # 617799), can have multisystemic clinical impact. Due to the rarity of CAMK2B mutations at present, case reports about patients with CAMK2B mutations are limited. The present case report describes a patient with CAMK2B -related disorder confirmed by whole exome sequencing and adds to the current information in the literature. We review three case reports in literature with detailed descriptions of patients presenting with mutations in the CAMK2B gene. While there is a broad spectrum of phenotypic presentations, there appears to be an emerging neurobehavioral phenotype. Optimal management of patients will require attention to behavioral issues as well as involvement of neuropsychiatric expertise along with other supports for development and vision abnormalities.

摘要:钙/钙调蛋白依赖性蛋白激酶 II-β(CAMK2B)基因对钙信号转导和谷氨酸能突触非常重要,影响神经可塑性和学习。CAMK2B 基因突变会导致常染色体显性智力迟钝 54(Online Mendelian Inheritance in Man # 617799),可对临床产生多系统影响。由于 CAMK2B 基因突变目前还很罕见,有关 CAMK2B 基因突变患者的病例报告还很有限。本病例报告描述了一名经全外显子组测序证实的 CAMK2B 相关疾病患者,并补充了目前的文献信息。我们回顾了文献中详细描述 CAMK2B 基因突变患者的三篇病例报告。虽然表型表现的范围很广,但似乎有一种新出现的神经行为表型。患者的最佳治疗需要关注行为问题,并需要神经精神科专家的参与以及其他发育和视力异常方面的支持。
{"title":"Severe Developmental Delay and Behavior Abnormalities in a Patient with De Novo CAMK2B Mutation: A Case Report and Literature Review.","authors":"Katherynn K Zhang, Charles A Rupar, Chitra Prasad","doi":"10.4103/aian.aian_118_24","DOIUrl":"10.4103/aian.aian_118_24","url":null,"abstract":"<p><p>The calcium/calmodulin-dependent protein kinase II-beta ( CAMK2B ) gene is important for calcium signaling and glutamatergic synapses, which impacts neuroplasticity and learning. Mutations in the CAMK2B gene, which cause autosomal dominant mental retardation 54 (Online Mendelian Inheritance in Man # 617799), can have multisystemic clinical impact. Due to the rarity of CAMK2B mutations at present, case reports about patients with CAMK2B mutations are limited. The present case report describes a patient with CAMK2B -related disorder confirmed by whole exome sequencing and adds to the current information in the literature. We review three case reports in literature with detailed descriptions of patients presenting with mutations in the CAMK2B gene. While there is a broad spectrum of phenotypic presentations, there appears to be an emerging neurobehavioral phenotype. Optimal management of patients will require attention to behavioral issues as well as involvement of neuropsychiatric expertise along with other supports for development and vision abnormalities.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"430-434"},"PeriodicalIF":1.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11418780/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141900750","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy (IDDSAPN): A Mixed Phenotype. 智力发育障碍伴语言发育迟缓和轴突性周围神经病(IDSAPN):混合表型。
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-05-01 Epub Date: 2024-05-20 DOI: 10.4103/aian.aian_1017_23
Prateek Kumar Panda, Sharusa Mandal, Diksha Gupta, Aman Elwadhi, Indar Kumar Sharawat
{"title":"Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy (IDDSAPN): A Mixed Phenotype.","authors":"Prateek Kumar Panda, Sharusa Mandal, Diksha Gupta, Aman Elwadhi, Indar Kumar Sharawat","doi":"10.4103/aian.aian_1017_23","DOIUrl":"10.4103/aian.aian_1017_23","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"338-340"},"PeriodicalIF":1.9,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11232835/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141178685","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Occipital Localization of Electrocardiographic Artifacts in Pediatric Electroencephalograms: A Novel Observation and Implications. 小儿脑电图中心电图伪影的枕骨定位:新的观察结果和意义。
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-05-01 Epub Date: 2024-06-21 DOI: 10.4103/aian.aian_1116_23
Gosala R K Sarma, Sowmyashree M Kaku, Manjula W James, Ashok Mysore
{"title":"Occipital Localization of Electrocardiographic Artifacts in Pediatric Electroencephalograms: A Novel Observation and Implications.","authors":"Gosala R K Sarma, Sowmyashree M Kaku, Manjula W James, Ashok Mysore","doi":"10.4103/aian.aian_1116_23","DOIUrl":"10.4103/aian.aian_1116_23","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"321-324"},"PeriodicalIF":1.9,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11232837/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141431239","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prevalence and Severity of Central Sensitization in Post-Polio Syndrome: Associations with Clinical Measures and Quality of Life. 脊髓灰质炎后综合征中枢过敏的患病率和严重程度:与临床指标和生活质量的关系
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-05-01 Epub Date: 2024-06-22 DOI: 10.4103/aian.aian_1040_23
Arzu Y On, Emre Latifoglou, Ece Çınar, Göksel Tanıgör

Objectives: To investigate the presence and severity of central sensitization (CS) and its associations with clinical measures and quality of life (QoL) in individuals with a history of paralytic poliomyelitis with and without post-polio syndrome (PPS).

Methods: In this cross-sectional study, we included 98 individuals with a history of poliomyelitis, in whom 82 (83.6%) met the criteria of PPS. We used CS Inventory (CSI) to evaluate the presence and severity of CS. We evaluated the severity of fatigue, pain, polio-related impairments, and QoL using a Numerical Rating Scale in addition to Fatigue Severity Scale, Self-reported Impairments in Persons with late effects of Polio rating scale (SIPP), and Nottingham Health Profile (NHP).

Results: CS was present in 52.4% of patients with PPS, of which 63% are classified as severe to extreme. Those with CS reported more severe symptoms, more polio-related impairments, and worse QoL than those without CS. Severity of CS showed significant positive correlations with severity of fatigue, pain, SIPP, and NHP scales in those with PPS. CSI did not indicate CS in any of those without PPS.

Conclusion: CS was present in more than half of the individuals with PPS and correlated with more severe pain, fatigue, and more polio-related impairments, in addition to poorer QoL. These findings suggest that CS may contribute to the clinical picture in a subgroup of individuals with PPS. Thus, identification and appropriate management of CS patients may potentially help alleviate their symptoms and improve their QoL.

目的:研究中枢敏化(CS)的存在和严重程度及其与临床指标和生活质量(QoL)的关系:调查有脊髓灰质炎麻痹史且伴有或不伴有脊髓灰质炎后综合征(PPS)的患者是否存在中枢敏化(CS)及其严重程度,以及CS与临床指标和生活质量(QoL)之间的关系:在这项横断面研究中,我们纳入了 98 名有脊髓灰质炎病史的患者,其中 82 人(83.6%)符合 PPS 标准。我们使用 CS 量表(CSI)来评估 CS 的存在和严重程度。除了疲劳严重程度量表、脊髓灰质炎晚期患者自述损伤评分量表(SIPP)和诺丁汉健康档案(NHP)之外,我们还使用数字评分量表评估了疲劳、疼痛、脊髓灰质炎相关损伤和 QoL 的严重程度:52.4%的 PPS 患者存在 CS,其中 63% 被归类为严重至极度 CS。与无 CS 的患者相比,有 CS 的患者症状更严重,与小儿麻痹症相关的损伤更多,QoL 更差。CS 的严重程度与 PPS 患者的疲劳、疼痛、SIPP 和 NHP 量表的严重程度呈显著正相关。结论:半数以上的 PPS 患者存在 CS:结论:半数以上的 PPS 患者存在 CS,而且 CS 与更严重的疼痛、疲劳、更多脊髓灰质炎相关损伤以及更差的 QoL 相关。这些研究结果表明,CS 可能是 PPS 患者中一部分人的临床表现。因此,对 CS 患者进行识别和适当管理可能有助于减轻他们的症状,改善他们的 QoL。
{"title":"Prevalence and Severity of Central Sensitization in Post-Polio Syndrome: Associations with Clinical Measures and Quality of Life.","authors":"Arzu Y On, Emre Latifoglou, Ece Çınar, Göksel Tanıgör","doi":"10.4103/aian.aian_1040_23","DOIUrl":"10.4103/aian.aian_1040_23","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the presence and severity of central sensitization (CS) and its associations with clinical measures and quality of life (QoL) in individuals with a history of paralytic poliomyelitis with and without post-polio syndrome (PPS).</p><p><strong>Methods: </strong>In this cross-sectional study, we included 98 individuals with a history of poliomyelitis, in whom 82 (83.6%) met the criteria of PPS. We used CS Inventory (CSI) to evaluate the presence and severity of CS. We evaluated the severity of fatigue, pain, polio-related impairments, and QoL using a Numerical Rating Scale in addition to Fatigue Severity Scale, Self-reported Impairments in Persons with late effects of Polio rating scale (SIPP), and Nottingham Health Profile (NHP).</p><p><strong>Results: </strong>CS was present in 52.4% of patients with PPS, of which 63% are classified as severe to extreme. Those with CS reported more severe symptoms, more polio-related impairments, and worse QoL than those without CS. Severity of CS showed significant positive correlations with severity of fatigue, pain, SIPP, and NHP scales in those with PPS. CSI did not indicate CS in any of those without PPS.</p><p><strong>Conclusion: </strong>CS was present in more than half of the individuals with PPS and correlated with more severe pain, fatigue, and more polio-related impairments, in addition to poorer QoL. These findings suggest that CS may contribute to the clinical picture in a subgroup of individuals with PPS. Thus, identification and appropriate management of CS patients may potentially help alleviate their symptoms and improve their QoL.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"282-288"},"PeriodicalIF":1.9,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11232829/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141439996","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Serial MRI Changes in Febrile Infection-Related Epilepsy Syndrome (FIRES): A Clinical and Radiologic Exploration. 发热感染相关癫痫综合征(FIRES)的磁共振成像序列变化:临床与放射学探索。
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-05-01 Epub Date: 2024-06-20 DOI: 10.4103/aian.aian_823_23
Savith Kumar, Anvesh Apkari, Suryanarayan Sharma
{"title":"Serial MRI Changes in Febrile Infection-Related Epilepsy Syndrome (FIRES): A Clinical and Radiologic Exploration.","authors":"Savith Kumar, Anvesh Apkari, Suryanarayan Sharma","doi":"10.4103/aian.aian_823_23","DOIUrl":"10.4103/aian.aian_823_23","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":"27 3","pages":"311-312"},"PeriodicalIF":1.9,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11232830/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141442064","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
期刊
Annals of Indian Academy of Neurology
全部 Acc. Chem. Res. ACS Applied Bio Materials ACS Appl. Electron. Mater. ACS Appl. Energy Mater. ACS Appl. Mater. Interfaces ACS Appl. Nano Mater. ACS Appl. Polym. Mater. ACS BIOMATER-SCI ENG ACS Catal. ACS Cent. Sci. ACS Chem. Biol. ACS Chemical Health & Safety ACS Chem. Neurosci. ACS Comb. Sci. ACS Earth Space Chem. ACS Energy Lett. ACS Infect. Dis. ACS Macro Lett. ACS Mater. Lett. ACS Med. Chem. Lett. ACS Nano ACS Omega ACS Photonics ACS Sens. ACS Sustainable Chem. Eng. ACS Synth. Biol. Anal. Chem. BIOCHEMISTRY-US Bioconjugate Chem. BIOMACROMOLECULES Chem. Res. Toxicol. Chem. Rev. Chem. Mater. CRYST GROWTH DES ENERG FUEL Environ. Sci. Technol. Environ. Sci. Technol. Lett. Eur. J. Inorg. Chem. IND ENG CHEM RES Inorg. Chem. J. Agric. Food. Chem. J. Chem. Eng. Data J. Chem. Educ. J. Chem. Inf. Model. J. Chem. Theory Comput. J. Med. Chem. J. Nat. Prod. J PROTEOME RES J. Am. Chem. Soc. LANGMUIR MACROMOLECULES Mol. Pharmaceutics Nano Lett. Org. Lett. ORG PROCESS RES DEV ORGANOMETALLICS J. Org. Chem. J. Phys. Chem. J. Phys. Chem. A J. Phys. Chem. B J. Phys. Chem. C J. Phys. Chem. Lett. Analyst Anal. Methods Biomater. Sci. Catal. Sci. Technol. Chem. Commun. Chem. Soc. Rev. CHEM EDUC RES PRACT CRYSTENGCOMM Dalton Trans. Energy Environ. Sci. ENVIRON SCI-NANO ENVIRON SCI-PROC IMP ENVIRON SCI-WAT RES Faraday Discuss. Food Funct. Green Chem. Inorg. Chem. Front. Integr. Biol. J. Anal. At. Spectrom. J. Mater. Chem. A J. Mater. Chem. B J. Mater. Chem. C Lab Chip Mater. Chem. Front. Mater. Horiz. MEDCHEMCOMM Metallomics Mol. Biosyst. Mol. Syst. Des. Eng. Nanoscale Nanoscale Horiz. Nat. Prod. Rep. New J. Chem. Org. Biomol. Chem. Org. Chem. Front. PHOTOCH PHOTOBIO SCI PCCP Polym. Chem.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1