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Prevalence and associated factors of post-stroke depression in Africa: a systematic review and meta-analysis. 非洲卒中后抑郁症的患病率和相关因素:系统回顾和荟萃分析。
IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-09-28 DOI: 10.1186/s12883-024-03867-x
Bekalu Getachew, Abay Mulu

Background: Depressive disorder is considered the most frequent and burdensome mental health complication after stroke. Post-stroke depression is under-recognized in Africa and data remain scarce. These systematic reviews and meta-analyses were, therefore conducted to fill the gap.

Methods: An inclusive review of both published and unpublished articles was conducted. An initial search was conducted in PubMed, African Journal Online, EMBASE, SCOPUS and Google Scholar. Data were extracted using an Excel data format and the analysis was done using STATA version 14 statistical software. The heterogeneity of studies was determined using the Cochrane Q test statistic and I2 test statistics with forest plots. A random effects model was used to examine the pooled prevalence of post-stroke depression and subgroup analysis was conducted for those having significant heterogeneity. Sensitivity analysis and publication bias were also assessed. Pooled odds ratios (ORs) with a 95% confidence interval (CI) were calculated. Results were presented in narratives, tables and forest plots.

Result: A total of 25 Articles with 3098 stroke patients from African countries were included to pool the prevalence of post-stroke depression in the meta-analysis. The pooled prevalence of post-stroke depression in Africa at any time was 38.35% [95% CI, 34.07-42.63%]. The pooled estimate for post-stroke depression using clinical diagnostic tools was [38.53%, 95%CI: 34.07-42.63] and (36.81% [32.09-41.52%]) by rating scale. Subgroup analysis by region showed that Central Africa [50.92%, 95% CI: 45.94-55.90] had the highest pooled estimate of depression among stroke survivors with high heterogeneity (92.5%). Female gender, cognitive dysfunction and younger age were found associated in the primary studies but their pooled Odds ratio and overall effect were not significant in the meta-analysis. The pooled estimate of the Odds ratio of physical disability in Africa was 2.02[95% CI, 1.04-3.94] with no heterogeneity but the overall effect was significant (p = 0.038).

Conclusion: Post-stroke depression was relatively higher in Africa. Central Africa had the highest burden of post-stroke depression followed by West Africa. Physical disability was significantly associated with post-stroke depression in the current meta-analysis.

背景:抑郁症被认为是中风后最常见、负担最重的精神健康并发症。在非洲,人们对中风后抑郁症的认识不足,相关数据仍然稀缺。因此,我们开展了这些系统综述和荟萃分析,以填补这一空白:方法:对已发表和未发表的文章进行了全面回顾。初步搜索范围包括 PubMed、African Journal Online、EMBASE、SCOPUS 和 Google Scholar。使用 Excel 数据格式提取数据,并使用 STATA 14 版统计软件进行分析。使用 Cochrane Q 检验统计量和 I2 检验统计量以及森林图确定研究的异质性。采用随机效应模型检查卒中后抑郁症的总体患病率,并对具有显著异质性的研究进行亚组分析。此外,还对敏感性分析和发表偏倚进行了评估。计算了汇总的几率比(OR)和 95% 的置信区间(CI)。结果以叙述、表格和森林图的形式呈现:荟萃分析共纳入了 25 篇文章,3098 名来自非洲国家的中风患者。非洲任何时间的卒中后抑郁患病率合计为 38.35% [95% CI, 34.07-42.63%]。使用临床诊断工具对卒中后抑郁症的汇总估计值为[38.53%,95%CI:34.07-42.63%],使用评分量表对卒中后抑郁症的汇总估计值为(36.81% [32.09-41.52%])。按地区进行的分组分析表明,中非地区[50.92%,95%CI:45.94-55.90]的中风幸存者抑郁症汇总估计值最高,且异质性较高(92.5%)。在主要研究中发现,女性性别、认知功能障碍和年龄较小与抑郁相关,但在荟萃分析中,这些因素的合计奥德比和总体效应并不显著。非洲肢体残疾的集合估计奥德比为 2.02[95% CI, 1.04-3.94],无异质性,但总体效应显著(p = 0.038):结论:非洲的卒中后抑郁症发病率相对较高。结论:非洲的卒中后抑郁症发病率相对较高,中部非洲的卒中后抑郁症发病率最高,其次是西部非洲。在当前的荟萃分析中,肢体残疾与卒中后抑郁明显相关。
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引用次数: 0
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): a family with five affected sibs from Turkey. 小脑共济失调、神经病和前庭反射综合征(CANVAS):土耳其一个有五个兄弟姐妹患病的家庭。
IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-09-28 DOI: 10.1186/s12883-024-03782-1
Figen Gökçay, Gülcan Neşem Baskan, Irmak Şahbaz, Müge Kovancılar Koç, A Nazlı Başak, Nese Celebisoy

Background: Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS), a relatively common cause of late-onset progressive ataxia, is a genetic disease characterised by biallelic pentanucleotide AAGGG repeat expansion in intron 2 of the replication factor complex subunit 1 gene. Herein, we describe the first molecularly confirmed CANVAS family with five affected siblings from Turkey.

Case presentation: The family comprised seven siblings born from healthy non-consanguineous parents. CANVAS phenotype was present in five of them; two were healthy and asymptomatic. Chronic cough was the first symptom reported in all five siblings, followed by the development of sensory symptoms, oscillopsia and imbalance. Clinical head impulse test (HIT) was positive in all cases and video HIT performed on three patients revealed very low vestibulo-ocular reflex gains bilaterally. Magnetic resonance imaging and nerve conduction studies revealed cerebellar atrophy and sensory neuronopathy, respectively. RP-PCR confirmed the homozygous presence of the AAGGG repeat expansion in all five cases.

Conclusion: Genetic screening for CANVAS should be considered in all patients with late-onset ataxia, sensory disturbances and vestibular involvement, especially in the presence of chronic cough.

背景:小脑共济失调、神经病变和前庭反射综合征(CANVAS)是晚发进行性共济失调的一种相对常见的病因,是一种遗传性疾病,其特征是复制因子复合体亚基 1 基因内含子 2 中的双双偶五核苷酸 AAGGGG 重复扩增。在此,我们描述了第一个经分子确证的 CANVAS 家族,该家族有五个来自土耳其的患病兄弟姐妹:该家族由 7 个兄弟姐妹组成,他们的父母均为健康的非近亲结婚者。其中五人出现 CANVAS 表型,两人健康且无症状。慢性咳嗽是所有五个兄弟姐妹报告的第一个症状,随后出现感觉症状、震颤和失衡。所有病例的临床头部冲动试验(HIT)均呈阳性,对三名患者进行的视频头部冲动试验显示双侧前庭眼反射增益非常低。磁共振成像和神经传导检查分别显示小脑萎缩和感觉神经病变。RP-PCR证实所有五例病例均为AAGGGG重复扩增的同基因型:结论:对于所有晚发型共济失调、感觉障碍和前庭受累的患者,尤其是伴有慢性咳嗽的患者,应考虑进行CANVAS基因筛查。
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引用次数: 0
Criterion validity of a single-item measure of fear avoidance behavior following mild traumatic brain injury. 轻度脑外伤后恐惧回避行为单项测量的标准有效性。
IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-09-28 DOI: 10.1186/s12883-024-03861-3
Shahrazad Amin, Ana Mikolic, Noah D Silverberg

Maladaptive coping such as fear avoidance behavior can prolong recovery from mild traumatic brain injury (mTBI). Routine assessment of fear avoidance may improve management of mTBI. This study aimed to validate a single-item measure of fear avoidance to make its assessment more pragmatic. The present study is a secondary analysis of a clinical trial that involved adults with persistent post-concussion symptoms (N = 90, 63% female). Participants completed the single-item fear avoidance rating, a validated legacy measure of fear avoidance (Fear Avoidance Behavior after Traumatic Brain Injury; FAB-TBI), and measures of anxiety (General Anxiety Disorder-7), depression (Patient Health Questionnaire-9), post-concussion symptoms (Rivermead Postconcussion Symptoms Questionnaire), and disability (World Health Organization Disability Assessment Schedule 12.0). Questionnaires were completed twice, at baseline (mean 18.1 weeks post injury) and again 12-16 weeks later following study-delivered rehabilitation in addition to usual care. We analyzed the associations (Spearman's correlations) and agreement (weighted Kappa) between the single-item and FAB-TBI at baseline, posttreatment, individual FAB-TBI item scores, and the change in scores between baseline and posttreatment. In addition, we examined correlations between the single-item fear avoidance measure and related constructs, including anxiety, depression, post-concussion symptoms, and disability. The single-item fear avoidance measure correlated strongly with the FAB-TBI both at baseline and following treatment (ρ = 0.63 - 0.67, p < .001), and moderately with FAB-TBI item scores (ρ = 0.4 - 0.6). The correlation between the change in these scores from baseline to posttreatment was moderate (ρ = 0.45, p < .001). Agreement between the single-item fear avoidance measure and discretized FAB-TBI scores was moderate (κ = 0.45 - 0.51). Before and after treatment, the single-item fear avoidance measure correlated moderately with anxiety (ρ = 0.34), depression (ρ = 0.43), post-concussion symptoms (ρ = 0.50), and disability (ρ = 0.43). The FAB-TBI was more strongly correlated with these measures (ρ = 0.53 - 0.73). In summary, the present study supports the criterion validity of the single-item fear avoidance measure. This measure may be a useful screening and monitoring tool for patients with mTBI but is not a substitute for the FAB-TBI questionnaire.

回避恐惧行为等适应不良的应对方式会延长轻度脑外伤(mTBI)的恢复期。对恐惧回避行为进行常规评估可改善轻度脑损伤的管理。本研究旨在验证恐惧回避的单项测量方法,使其评估更加实用。本研究是对一项临床试验的二次分析,该临床试验涉及脑震荡后症状持续存在的成年人(N = 90,女性占 63%)。参与者填写了单项恐惧回避评级、经验证的恐惧回避遗留测量(创伤性脑损伤后的恐惧回避行为;FAB-TBI)、焦虑测量(一般焦虑症-7)、抑郁测量(患者健康问卷-9)、脑震荡后症状测量(Rivermead 脑震荡后症状问卷)和残疾测量(世界卫生组织残疾评估表 12.0)。问卷调查共完成两次,一次是在基线期(平均受伤后 18.1 周),另一次是在 12-16 周后,除常规护理外,在研究提供的康复治疗后。我们分析了单项和 FAB-TBI 在基线、治疗后、FAB-TBI 单项得分以及基线和治疗后得分变化之间的关联(斯皮尔曼相关性)和一致性(加权卡帕)。此外,我们还研究了单项恐惧回避测量与焦虑、抑郁、脑震荡后症状和残疾等相关结构之间的相关性。在基线和治疗后,单项恐惧回避测量与 FAB-TBI 都有很强的相关性(ρ = 0.63 - 0.67,p.
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引用次数: 0
Upper cervical epidural abscess with emphasis on diabetes as a risk factor: a case report. 以糖尿病为风险因素的上颈椎硬膜外脓肿:病例报告。
IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-09-28 DOI: 10.1186/s12883-024-03831-9
Nagi A Massoud, Abdulrahman H Alashkar, Mohammad A Aljawash, Elhaytham Mustafa

Background: An upper cervical spine epidural abscess (UCEA) is an epidural abscess that develops in the area between the occiput and the second cervical spine (axis). It is a rare diagnosis that carries the risk of instability of the atlantoaxial joint, and its management is not well-defined. It is known that the skin is the most common source of infection, and that diabetes mellitus (DM) is the most frequently reported risk factor. In this case, we present a patient diagnosed with UCEA, who achieved full neurological recovery postoperatively despite having neurological deficits for over five days prior to surgery.

Case presentation: We report the case of a 56-year-old male patient with no history of any prior medical conditions, who presented with headache, neck pain, and weakness of the left side. The weakness started approximately three days prior to his presentation. His initial work up revealed hyperglycemia and elevated HbA1c of 86 mmol/mol (10%). Magnetic resonance imaging (MRI) of the cervical spine revealed spondylitis of the C2 spine with an abscess at the craniocervical junction. He underwent a two-staged surgical approach: decompression and stabilisation. The patient achieved full motor recovery approximately three months postoperatively.

Conclusions: We recommend screening for DM when a spinal epidural abscess (SEA) is diagnosed without readily identifiable risk factors. The optimal management in most SEA cases is surgical, which is particularly true for UCEA because of the risk of atlantoaxial joint instability. Full neurological recovery is possible even when the patient has been having deficits for more than five days.

背景:上颈椎硬膜外脓肿(UCEA)是指发生在枕部和第二颈椎(轴)之间区域的硬膜外脓肿。这是一种罕见的诊断,有导致寰枢关节不稳定的风险,其治疗方法尚不明确。众所周知,皮肤是最常见的感染源,而糖尿病(DM)是最常见的风险因素。在本病例中,我们介绍了一名被诊断为 UCEA 的患者,尽管术前神经功能缺损超过五天,但术后神经功能完全恢复:我们报告的病例是一名 56 岁的男性患者,既往无任何病史,因头痛、颈部疼痛和左侧肢体无力而就诊。无力症状大约是在就诊前三天开始出现的。初步检查显示他患有高血糖症,HbA1c 升高至 86 mmol/mol(10%)。颈椎磁共振成像(MRI)显示,C2 脊柱患有脊柱炎,颅颈交界处有脓肿。他接受了两阶段手术治疗:减压和稳定。术后约三个月,患者的运动能力完全恢复:我们建议,在确诊脊髓硬膜外脓肿(SEA)时,如果没有容易识别的危险因素,应进行DM筛查。大多数脊髓硬膜外脓肿病例的最佳治疗方法是手术,尤其是对于寰枢关节不稳的 UCEA。即使患者的神经功能缺损超过五天,其神经功能也有可能完全恢复。
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引用次数: 0
Comorbidities associated with dysphagia after acute ischemic stroke. 急性缺血性脑卒中后与吞咽困难相关的合并症。
IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-09-28 DOI: 10.1186/s12883-024-03863-1
Anel Karisik, Vincent Bader, Kurt Moelgg, Lucie Buergi, Benjamin Dejakum, Silvia Komarek, Michael Thomas Eller, Thomas Toell, Lukas Mayer-Suess, Raimund Pechlaner, Julian Granna, Simon Sollereder, Sonja Rossi, Gudrun Schoenherr, Johann Willeit, Peter Willeit, Wilfried Lang, Stefan Kiechl, Michael Knoflach, Christian Boehme

Background: Pre-existing comorbidities increase the likelihood of post-stroke dysphagia. This study investigates comorbidity prevalence in patients with dysphagia after ischemic stroke.

Methods: The data of patients with acute ischemic stroke from two large representative cohorts (STROKE-CARD trial 2014-2019 and STROKE-CARD registry 2020-2022 - both study center Innsbruck, Austria) were analyzed for the presence of dysphagia at hospital admission (clinical swallowing examination). Comorbidities were assessed using the Charlson Comorbidity Index (CCI).

Results: Of 2054 patients with ischemic stroke, 17.2% showed dysphagia at hospital admission. Patients with dysphagia were older (77.8 ± 11.9 vs. 73.6 ± 14.3 years, p < 0.001), had more severe strokes (NIHSS 7(4-12) vs. 2(1-4), p < 0.001) and had higher CCI scores (4.7 ± 2.1 vs. 3.8 ± 2.0, p < 0.001) than those without swallowing impairment. Dysphagia correlated with hypertension (p = 0.034), atrial fibrillation (p < 0.001), diabetes (p = 0.002), non-smoking status (p = 0.014), myocardial infarction (p = 0.002), heart failure (p = 0.002), peripheral arterial disease (p < 0.001), severe chronic liver disease (p = 0.002) and kidney disease (p = 0.010). After adjusting for relevant factors, the associations with dysphagia remained significant for diabetes (p = 0.005), peripheral arterial disease (p = 0.007), kidney disease (p = 0.014), liver disease (p = 0.003) and overall CCI (p < 0.001).

Conclusions: Patients with multiple comorbidities have a higher risk of developing post-stroke dysphagia. Therefore, early and thorough screening for swallowing impairment after acute ischemic stroke is crucial especially in those with multiple concomitant diseases.

Trial registration: Stroke Card Registry (NCT04582825), Stroke Card Trial (NCT02156778).

背景:原有的合并症会增加卒中后吞咽困难的可能性。本研究调查了缺血性脑卒中后吞咽困难患者的合并症发生率:对两个大型代表性队列(2014-2019 年 STROKE-CARD 试验和 2020-2022 年 STROKE-CARD 登记,研究中心均为奥地利因斯布鲁克)中急性缺血性脑卒中患者的数据进行分析,以确定入院时是否存在吞咽困难(临床吞咽检查)。合并症采用夏尔森合并症指数(CCI)进行评估:结果:在 2054 名缺血性脑卒中患者中,17.2% 的患者在入院时出现吞咽困难。有吞咽困难的患者年龄更大(77.8±11.9 岁 vs. 73.6±14.3 岁,P 结论:有吞咽困难的患者年龄更大:患有多种并发症的患者卒中后出现吞咽困难的风险更高。因此,在急性缺血性脑卒中后及早全面筛查吞咽功能障碍至关重要,尤其是对合并多种疾病的患者:中风卡注册(NCT04582825)、中风卡试验(NCT02156778)。
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引用次数: 0
Delayed door to puncture time during off-duty hours is associated with unfavorable outcomes after mechanical thrombectomy in the early window of acute ischemic stroke. 在急性缺血性脑卒中的早期窗口期,下班时间内从门到穿刺时间的延迟与机械血栓切除术后的不良预后有关。
IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-09-28 DOI: 10.1186/s12883-024-03874-y
Hye-In Chung, Yoonkyung Lee, Byeol-A Yoon, Dae-Hyun Kim, Jae-Kwan Cha, Seungho Lee
<p><strong>Backgrounds: </strong>The impact of off-duty hours mechanical thrombectomy on outcomes remains a subject of controversy. The impacts of off-duty hours on procedures are influenced by various factors, but the most critical one is the time delay in initiating the procedure after the patient's arrival at the emergency room. Recently, a report suggested that the impact of time delay on post-procedural outcomes is evident in patients who arrive at the emergency room within 6 h of symptom onset, referred to as the "early window." We hypothesized that the impact of procedure delays on outcomes during off duty-hours would be most significant within this early window. This study aimed to investigate the impact of door-to-puncture time (DTPT) delays in patients who underwent mechanical thrombectomy for acute ischemic stroke (AIS) during off-duty hours in both the early and late time windows.</p><p><strong>Methods: </strong>We investigated patients who presented to the emergency center between 2014 and 2022. Among a total of 6,496 AIS patients, we selected those who underwent mechanical thrombectomy within 24 h of the onset of acute anterior circulation occlusion. The eligible patients were divided into two groups: those who arrived within 6 h of symptom onset and received the procedure within 8 h (early window), and those who received the procedure between 8 h and 24 h after symptom onset (late window). The study assessed the association between the onset to puncture time in each group and poor outcomes, measured by the modified Rankin scores(mRs) at 90 days. Furthermore, the study analyzed the impact of receiving the procedure during off-hours in both the early and late windows on outcomes. Specifically, the analysis focused on the impact of delayed DTPT in patients during off-duty hours on outcomes measured by the 90-days mRS.</p><p><strong>Results: </strong>Among the eligible patients, a total of 501 AIS patients underwent mechanical thrombectomy for acute anterior circulation occlusion within 24 h. Of these, 395 patients (78.8%) fell into the early window category, and 320 patients (63.9%) underwent the procedure during off-duty hours. In the early window, for every 60-minute increase in OTPT, the probability of occurrence a poor outcome at 90 days significantly increased in the fully adjusted model (OR = 1.21; 95% CI, 1.02 to 1.43; p = 0.03). In the early window, delayed procedures during off-duty hours (exceeding 103 min of DTPT) were identified as an independent predictor of poor outcomes (OR = 1.85; 95% CI, 1.05 to 3.24; p = 0.03). However, in the late window, there was no association between DTPT and outcomes at 90 days, and the impact of DTPT delays during off-hours was not observed.</p><p><strong>Conclusions: </strong>Through this study, it became evident that the impacts of off-duty hours in mechanical thrombectomy were most pronounced in the early window, where the impact of time delay was clear. Therefore, it is believed that impro
背景:非工作时间机械血栓切除术对治疗效果的影响仍存在争议。非工作时间对手术的影响受多种因素影响,但最关键的因素是患者到达急诊室后启动手术的时间延迟。最近,一份报告指出,时间延迟对手术后结果的影响在症状出现后 6 小时内到达急诊室的患者身上表现明显,这种情况被称为 "早期窗口"。我们假设,在这一早期窗口期内,非值班时间内手术延迟对预后的影响最为显著。本研究旨在调查在非值班时间的早期和晚期时间窗口中,门到穿刺时间(DTPT)延迟对因急性缺血性卒中(AIS)而接受机械血栓切除术的患者的影响:我们调查了 2014 年至 2022 年期间在急救中心就诊的患者。在总共 6496 名 AIS 患者中,我们选取了在急性前循环闭塞发生后 24 小时内接受机械性血栓切除术的患者。符合条件的患者被分为两组:在症状出现后 6 小时内到达并在 8 小时内接受手术的患者(早期窗口期)和在症状出现后 8 小时至 24 小时之间接受手术的患者(晚期窗口期)。该研究评估了每组患者发病到穿刺时间与不良预后之间的关系,不良预后以90天后的改良Rankin评分(mRs)来衡量。此外,该研究还分析了在非工作时间接受手术对早期和晚期治疗效果的影响。具体来说,分析的重点是在非工作时间接受延迟 DTPT 对 90 天 mRS 测量结果的影响:在符合条件的患者中,共有 501 名 AIS 患者在 24 小时内因急性前循环闭塞接受了机械血栓切除术,其中 395 名患者(78.8%)属于早期窗口期,320 名患者(63.9%)在下班时间接受了手术。在早期窗口期,OTPT 每增加 60 分钟,90 天后出现不良预后的概率在完全调整模型中显著增加(OR = 1.21;95% CI,1.02 至 1.43;P = 0.03)。在早期窗口期,非工作时间的延迟手术(超过 103 分钟的 DTPT)被认为是不良预后的独立预测因素(OR = 1.85;95% CI,1.05 至 3.24;P = 0.03)。然而,在晚期窗口期,DTPT与90天后的预后没有关联,也没有观察到非工作时间DTPT延迟的影响:通过这项研究,可以明显看出非工作时间对机械取栓术的影响在早期窗口期最为明显,时间延迟的影响是显而易见的。因此,有必要改进治疗系统以解决这一问题。
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引用次数: 0
Treatment of post-thalamic hemorrhage hydrocephalus: ventriculoperitoneal shunt or endoscopic third ventriculostomy? A retrospective observational study. 丘脑出血后脑积水的治疗:脑室腹腔分流术还是内镜下第三脑室造口术?一项回顾性观察研究。
IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-09-28 DOI: 10.1186/s12883-024-03880-0
Wenchao Lu, Andong Du, Xiaomin Zheng

Background: The aim of this study was to compare the efficacy of ventriculoperitoneal shunt (VPS) and endoscopic third ventriculostomy (ETV) for the treatment of hydrocephalus after thalamic hemorrhage (TH) where external ventricular drainage (EVD) could not be removed after hematoma absorption, and to provide a theoretical basis for the clinical treatment of hydrocephalus after TH.

Methods: The clinical data of patients with hydrocephalus after TH whose EVD could not be removed after hematoma absorption were retrospectively analyzed. According to the patients' surgical methods, the patients were divided into the VPS group and ETV group. The operative time, length of hospital stay, complications, and reoperation rates of the two groups were compared.

Results: There was no statistically significant difference in intraoperative bleeding, length of hospital stay between the two groups. The EVD tubes were successfully removed in all patients after surgery. There were 4 (9.5%) complications in the ETV group and 3 (6.7%) complications in the VPS group, with no statistically significant difference in postoperative complications between the two groups. During the 1-year follow-up, 7 patients (16.7%) in the ETV group and 3 patients (6.7%) in the VPS group required reoperation. In the subgroup analysis of TH combined with fourth ventricular hemorrhage, 6 patients (14.3%) in the ETV group and 1 patient (2.2%) in the VPS group required reoperation, and the difference between the two groups was statistically significant.

Conclusions: ETV had good efficacy in treating hydrocephalus caused by TH and TH that broke into the lateral ventricle and the third ventricle. However, if hydrocephalus was caused by TH with the fourth ventricular hematoma, VPS was a better surgical method because the recurrence rate of hydrocephalus in ETV was higher than that in VPS. Therefore, the choice of surgical method should be based on the patient's clinical features and hematoma location.

研究背景本研究旨在比较脑室腹腔分流术(VPS)和内镜下第三脑室造口术(ETV)治疗丘脑出血(TH)后脑室外引流(EVD)血肿吸收后无法清除的脑积水的疗效,为TH后脑积水的临床治疗提供理论依据:方法:回顾性分析血肿吸收后无法清除脑室外引流管(EVD)的TH术后脑积水患者的临床资料。根据患者的手术方式分为 VPS 组和 ETV 组。比较了两组患者的手术时间、住院时间、并发症和再手术率:结果:两组患者的术中出血量、住院时间差异无统计学意义。所有患者术后都成功拔除了 EVD 管。ETV 组有 4 例(9.5%)并发症,VPS 组有 3 例(6.7%)并发症,两组术后并发症差异无统计学意义。在一年的随访期间,ETV 组有 7 名患者(16.7%)需要再次手术,VPS 组有 3 名患者(6.7%)需要再次手术。在TH合并第四脑室出血的亚组分析中,ETV组有6名患者(14.3%)需要再次手术,VPS组有1名患者(2.2%)需要再次手术,两组之间的差异具有统计学意义:ETV对治疗TH和TH破入侧脑室和第三脑室引起的脑积水有很好的疗效。然而,如果脑积水是由第四脑室血肿的 TH 引起的,则 VPS 是更好的手术方法,因为 ETV 的脑积水复发率高于 VPS。因此,应根据患者的临床特征和血肿位置选择手术方法。
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引用次数: 0
Translational Connectomics: overview of machine learning in macroscale Connectomics for clinical insights. 转化连接组学:宏观连接组学中的机器学习概述,以获得临床见解。
IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-09-28 DOI: 10.1186/s12883-024-03864-0
Janova Anbarasi, Radha Kumari, Malvika Ganesh, Rimjhim Agrawal

Connectomics is a neuroscience paradigm focused on noninvasively mapping highly intricate and organized networks of neurons. The advent of neuroimaging has led to extensive mapping of the brain functional and structural connectome on a macroscale level through modalities such as functional and diffusion MRI. In parallel, the healthcare field has witnessed a surge in the application of machine learning and artificial intelligence for diagnostics, especially in imaging. While reviews covering machine learn ing and macroscale connectomics exist for specific disorders, none provide an overview that captures their evolving role, especially through the lens of clinical application and translation. The applications include understanding disorders, classification, identifying neuroimaging biomarkers, assessing severity, predicting outcomes and intervention response, identifying potential targets for brain stimulation, and evaluating the effects of stimulation intervention on the brain and connectome mapping in patients before neurosurgery. The covered studies span neurodegenerative, neurodevelopmental, neuropsychiatric, and neurological disorders. Along with applications, the review provides a brief of common ML methods to set context. Conjointly, limitations in ML studies within connectomics and strategies to mitigate them have been covered.

连接组学是一种神经科学范式,侧重于以非侵入方式绘制高度复杂和有组织的神经元网络图。神经成像技术的出现,通过功能和弥散核磁共振成像等模式,在宏观层面上对大脑功能和结构连接组进行了广泛的测绘。与此同时,在医疗保健领域,机器学习和人工智能在诊断方面的应用也在激增,尤其是在成像方面。虽然已有针对特定疾病的机器学习和宏观连接组学的综述,但没有一篇综述能概括它们不断发展的作用,特别是通过临床应用和转化的视角。这些应用包括了解疾病、分类、确定神经影像生物标志物、评估严重程度、预测结果和干预反应、确定脑刺激的潜在目标、评估刺激干预对大脑的影响以及神经外科手术前对患者进行连接组图谱绘制。所涉及的研究涵盖神经退行性疾病、神经发育疾病、神经精神疾病和神经系统疾病。在介绍应用的同时,综述还简要介绍了常用的 ML 方法,以确定研究背景。此外,还介绍了连接组学中 ML 研究的局限性以及缓解这些局限性的策略。
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引用次数: 0
Chronic lymphoproliferative disorder of natural killer cells-related neurolymphomatosis with severe autonomic dysfunction: a case report. 伴有严重自主神经功能障碍的自然杀伤细胞相关神经淋巴瘤病慢性淋巴组织增生性疾病:病例报告。
IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-09-28 DOI: 10.1186/s12883-024-03879-7
Kazuki Yamada, Takashi Inoue, Shuntaro Nakamura, Kazuhiro Horiuchi, Yutaka Tsutsumi, Satoru Munakata, Satoru Yagi, Yuki Fukami, Masahisa Katsuno, Ichiro Yabe

Background: Chronic lymphoproliferative disorder of natural killer cells (CLPD-NK) is a rare disease characterized by a persistent increase in NK cells in peripheral blood and is generally asymptomatic. If present, symptoms may include fatigue, B symptoms (fever, night sweats, and unintentional weight loss), autoimmune-associated diseases, splenomegaly, and infection due to neutropenia. Peripheral neuropathy, however, is uncommon with an incidence of 3%. Neurolymphomatosis is a neurological manifestation of non-Hodgkin lymphoma and leukemia in which neurotropic neoplastic cells infiltrate the nerves. Moreover, neurolymphomatosis caused by CLPD-NK is extremely rare, with even fewer cases of autonomic dysfunction. We report a case of neurolymphomatosis associated with CLPD-NK and developed autonomic dysfunction, including orthostatic hypotension and gastrointestinal symptoms.

Case presentation: The patient was a 61-year-old male who was referred to our hospital for leukocytosis. He was diagnosed with CLPD-NK; however, was untreated since he had no hepatosplenomegaly, and other systemic symptoms. He later developed numbness in his lower extremities. Cerebral spinal fluid examination revealed a markedly elevated protein level of 140 mg/dL, and contrast-enhanced magnetic resonance imaging showed bilateral L4 and 5 nerve roots with enlargement and contrast effect. An immune-mediated polyradiculoneuropathy was suspected, and he was treated with intravenous methylprednisolone and immunoglobulin followed by oral prednisolone and cyclosporine. Although his symptoms were relieved by the immunotherapy, significant autonomic dysfunction, including intractable diarrhea, decreased sweating, and orthostatic hypotension, appeared. Additionally, tests for onconeuronal antibodies, ganglionic nicotinic acetylcholine receptor (gAChR) antibody, NF155, CNTN1, Caspr1 antibody, and anti-ganglioside antibodies were all negative. A sural nerve biopsy revealed lymphocytic infiltration, and immunohistochemical staining of lymphocytes confirmed the infiltration of NK and T cells. Therefore, a diagnosis of neurolymphomatosis caused by CLPD-NK was made, and chemotherapy led to partial symptom improvement.

Conclusions: We experienced a case of pathologically diagnosed neurolymphomatosis with autonomic dysfunction associated with CLPD-NK. In cases of subacute to chronic autonomic dysfunction, paraneoplastic neuropathy, amyloidosis, and autoimmune autonomic ganglionopathy are considered; however neurolymphomatosis caused by CLPD-NK, an important cause of autonomic dysfunction, is not. In difficult to make diagnosis, aggressive nerve biopsy is required.

背景:自然杀伤细胞慢性淋巴细胞增生性疾病(CLPD-NK)是一种罕见疾病,其特征是外周血中的NK细胞持续增多,一般无症状。如果出现,症状可能包括疲劳、B 族症状(发热、盗汗和无意中的体重减轻)、自身免疫相关疾病、脾肿大以及中性粒细胞减少引起的感染。然而,周围神经病变并不常见,发病率仅为 3%。神经淋巴瘤病是非霍奇金淋巴瘤和白血病的一种神经系统表现,神经肿瘤细胞会浸润神经。此外,由 CLPD-NK 引起的神经淋巴瘤病极为罕见,出现自主神经功能障碍的病例更少。我们报告了一例伴有CLPD-NK的神经淋巴瘤病,并出现了自主神经功能障碍,包括正性低血压和胃肠道症状:患者是一名61岁的男性,因白细胞增多转诊至我院。他被诊断为 CLPD-NK,但由于没有肝脾肿大和其他全身症状,因此未接受治疗。后来,他出现了下肢麻木。脑脊液检查显示蛋白质水平明显升高,达到 140 毫克/分升,造影剂增强磁共振成像显示双侧 L4 和 5 神经根肿大并伴有造影剂效应。他被怀疑患有免疫介导的多发性神经元病变,并接受了静脉甲基强的松龙和免疫球蛋白治疗,随后又口服了强的松龙和环孢素。虽然免疫疗法缓解了他的症状,但他出现了明显的自主神经功能障碍,包括难治性腹泻、出汗减少和正性低血压。此外,肿瘤神经元抗体、神经节烟碱乙酰胆碱受体(gAChR)抗体、NF155、CNTN1、Caspr1 抗体和抗神经节苷脂抗体的检测结果均为阴性。鞍神经活检显示有淋巴细胞浸润,淋巴细胞免疫组化染色证实有 NK 和 T 细胞浸润。因此,诊断为由 CLPD-NK 引起的神经淋巴瘤病,化疗后症状得到部分改善:我们经历了一例经病理诊断为神经淋巴瘤病并伴有自主神经功能障碍的CLPD-NK病例。在亚急性至慢性自主神经功能障碍的病例中,可考虑副肿瘤性神经病、淀粉样变性和自身免疫性自主神经节病;但由 CLPD-NK 引起的神经淋巴瘤病作为自主神经功能障碍的重要病因,却不在考虑之列。在难以确诊的情况下,需要进行积极的神经活检。
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引用次数: 0
Woodhouse-sakati syndrome with no reportable MRI findings: a case report. 未报告磁共振成像结果的伍德豪斯-萨卡蒂综合征:病例报告。
IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-09-28 DOI: 10.1186/s12883-024-03865-z
Rebecca Eilish Irvine, Arshia Ahmad

Background: Woodhouse-Sakati Syndrome (WSS) is a rare autosomal recessive condition caused by biallelic pathogenic variants in the DCAF17 gene, with fewer than 200 cases reported in the literature. Symptoms first emerge in middle-late adolescence with a spectrum of hypogonadal and progressive neurological features.

Case presentation: We present a case of WSS with no reportable T2-weighted, apparent diffusion coefficient mapping and susceptibility weighted MRI findings. This differs from cases reported in the current literature. Our patient developed abnormal movements in both legs, clumsiness of the hands, dysarthria, and swallowing difficulties. Moreover, she presented with alopecia manifesting as frontal and temporal balding, severe dystonia with painful dystonic spasms primarily in the left upper limb, as well as primary amenorrhea. She was not independently ambulatory on presentation, requiring wheelchair assistance. Genetic testing, the crucial test for a definitive diagnosis, was undertaken in Qatar and confirmed WSS. Treatment provided includes botulinum toxin injections and deep brain stimulation, providing better dystonia control, with progress in walking and strength exercises, and overall remarkable improvement. Intensive neurorehabilitation regimes were also deployed from admission, including physiotherapy, occupational therapy and speech and language therapy.

Conclusion: This case adds to the current literature on WSS manifestations, with all previously reported cases having positive MRI findings, unlike our case.

背景:伍德豪斯-萨卡蒂综合征(Woodhouse-Sakati Syndrome,WSS)是一种罕见的常染色体隐性遗传病,由 DCAF17 基因的双倍致病变体引起,文献报道的病例不到 200 例。症状最初出现于青春期中后期,具有一系列性腺功能低下和进行性神经系统特征:我们介绍了一例 WSS 病例,其 T2 加权、表观弥散系数图谱和感性加权磁共振成像结果均未见报道。这与现有文献报道的病例有所不同。我们的患者出现双腿运动异常、双手笨拙、构音障碍和吞咽困难。此外,她还伴有脱发,表现为额部和颞部秃发,严重肌张力障碍,主要表现为左上肢疼痛性肌张力痉挛,以及原发性闭经。她发病时不能独立行走,需要轮椅辅助。在卡塔尔进行了基因检测,这是确诊的关键检测,结果证实了 WSS。所提供的治疗包括肉毒杆菌毒素注射和脑深部刺激,从而更好地控制了肌张力障碍,并在行走和力量练习方面取得了进展,总体情况有了显著改善。入院后还进行了强化神经康复治疗,包括物理治疗、职业治疗以及言语和语言治疗:本病例为目前有关 WSS 表现的文献提供了新的资料。
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