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White matter brain age as a biomarker of cerebrovascular burden in the ageing brain. 脑白质年龄作为老龄化大脑中脑血管负担的生物标志物。
IF 3.7 3区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2025-12-01 Epub Date: 2024-02-29 DOI: 10.1007/s00406-024-01758-3
Jing Du, Yuangang Pan, Jiyang Jiang, Ben C P Lam, Anbupalam Thalamuthu, Rory Chen, Ivor W Tsang, Perminder S Sachdev, Wei Wen

As the brain ages, it almost invariably accumulates vascular pathology, which differentially affects the cerebral white matter. A rich body of research has investigated the link between vascular risk factors and the brain. One of the less studied questions is that among various modifiable vascular risk factors, which is the most debilitating one for white matter health? A white matter specific brain age was developed to evaluate the overall white matter health from diffusion weighted imaging, using a three-dimensional convolutional neural network deep learning model in both cross-sectional UK biobank participants (n = 37,327) and a longitudinal subset (n = 1409). White matter brain age gap (WMBAG) was the difference between the white matter age and the chronological age. Participants with one, two, and three or more vascular risk factors, compared to those without any, showed an elevated WMBAG of 0.54, 1.23, and 1.94 years, respectively. Diabetes was most strongly associated with an increased WMBAG (1.39 years, p < 0.001) among all risk factors followed by hypertension (0.87 years, p < 0.001) and smoking (0.69 years, p < 0.001). Baseline WMBAG was associated significantly with processing speed, executive and global cognition. Significant associations of diabetes and hypertension with poor processing speed and executive function were found to be mediated through the WMBAG. White matter specific brain age can be successfully targeted for the examination of the most relevant risk factors and cognition, and for tracking an individual's cerebrovascular ageing process. It also provides clinical basis for the better management of specific risk factors.

随着年龄的增长,大脑几乎不可避免地会积累血管病变,并对脑白质产生不同程度的影响。已有大量研究探讨了血管风险因素与大脑之间的联系。其中一个研究较少的问题是,在各种可改变的血管风险因素中,哪一个对脑白质健康的影响最大?利用三维卷积神经网络深度学习模型,在英国生物库参与者(n = 37,327)和纵向子集(n = 1409)中开发了白质特定脑年龄,以评估弥散加权成像得出的整体白质健康状况。白质脑年龄差距(WMBAG)是白质年龄与年代年龄之间的差值。与没有任何血管风险因素的人相比,有一个、两个和三个或更多血管风险因素的参与者的脑白质年龄差距分别增加了0.54岁、1.23岁和1.94岁。糖尿病与 WMBAG 的增加关系最为密切(1.39 岁,p
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引用次数: 0
Salience Network in Autism: preliminary results on functional connectivity analysis in resting state. 自闭症患者的显著性网络:静息状态下功能连接分析的初步结果。
IF 3.7 3区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2025-12-01 Epub Date: 2024-12-14 DOI: 10.1007/s00406-024-01949-y
Margherita Attanasio, Monica Mazza, Ilenia Le Donne, Anna Nigri, Marco Valenti

The literature suggests that alterations in functional connectivity (FC) of the Salience Network (SN) may contribute to the manifestation of some clinical features of Autism Spectrum Disorder (ASD). The SN plays a key role in integrating external sensory information with internal emotional and bodily information. An atypical FC of this network could explain some symptomatic features of ASD such as difficulties in self-awareness and emotion processing and provide new insights into the neurobiological basis of autism. Using the Autism Brain Imaging Data Exchange II we investigated the resting-state FC of core regions of SN and its association with autism symptomatology in 29 individuals with ASD compared with 29 typically developing (TD) individuals. In ASD compared to TD individuals, seed-based connectivity analysis showed a reduced FC between the rostral prefrontal cortex and left cerebellum and an increased FC between the right supramarginal gyrus and the regions of the middle temporal gyrus and angular gyrus. Finally, we found that the clinical features of ASD are mainly associated with an atypical FC of the anterior insula and the involvement of dysfunctional mechanisms for emotional and social information processing. These findings expand the knowledge about the differences in the FC of SN between ASD and TD, highlighting atypical FC between structures that play key roles in social cognition and complex cognitive processes. Such anomalies could explain difficulties in processing salient stimuli, especially those of a socio-affective nature, with an impact on emotional and behavioral regulation.

文献表明,自闭症谱系障碍(ASD)的某些临床特征可能与 "愉悦网络"(SN)功能连接(FC)的改变有关。SN在整合外部感官信息与内部情绪和身体信息方面发挥着关键作用。该网络的非典型功能可以解释自闭症的一些症状特征,如自我意识和情绪处理方面的困难,并为自闭症的神经生物学基础提供新的见解。我们利用自闭症脑成像数据交换 II 研究了 29 名 ASD 患者与 29 名发育典型(TD)患者的自闭症核心区域静息态功能及其与自闭症症状的关系。与 TD 患者相比,ASD 患者基于种子的连接分析表明,喙前额叶皮层与左侧小脑之间的 FC 值降低,而右侧边际上回与颞中回和角回区域之间的 FC 值升高。最后,我们发现 ASD 的临床特征主要与前脑岛的非典型 FC 以及情绪和社会信息处理机制失调有关。这些发现拓展了人们对ASD和TD之间SN功能差异的认识,突出了在社会认知和复杂认知过程中发挥关键作用的结构之间的非典型功能。这种反常现象可以解释在处理显著刺激,尤其是社会情感性刺激时遇到的困难,从而对情绪和行为调节产生影响。
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引用次数: 0
Biased AI generated images of mental illness: does AI adopt our stigma? 有偏见的人工智能生成的精神疾病图像:人工智能会接受我们的耻辱吗?
IF 3.7 3区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2025-12-01 Epub Date: 2025-04-09 DOI: 10.1007/s00406-025-01998-x
Irina Papazova, Alkomiet Hasan, Naiiri Khorikian-Ghazari
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引用次数: 0
Obsessive-compulsive and catatonic symptoms in the early stages of psychosis: Are they related? 精神病早期阶段的强迫症和紧张性症状:它们是否相关?
IF 3.7 3区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2025-12-01 Epub Date: 2025-10-06 DOI: 10.1007/s00406-025-02080-2
Sergio Sanchez-Alonso, Manuel Canal-Rivero, Nathalia Garrido-Torres, Enrique Baca-Garcia, Benedicto Crespo-Facorro, Maria Luisa Barrigon, Miguel Ruiz-Veguilla
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引用次数: 0
Intranasal esketamine significantly alleviates depression severity and suicidal ideations in electroconvulsive therapy (ECT) non-responders. 鼻内艾氯胺酮可显著减轻电休克治疗无反应患者的抑郁严重程度和自杀意念。
IF 3.7 3区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2025-12-01 Epub Date: 2025-07-01 DOI: 10.1007/s00406-025-02041-9
Erhan Kavakbasi, Kevin Rosemann, Mert Yilmaz, Helmut Berndt, Bernhard T Baune

Introduction: Intranasal esketamine (ESK) is a novel therapy option in patients with treatment-resistant depression (TRD). Patients with a history of electroconvulsive therapy (ECT) non-response (ECT+) in the current episode have usually been excluded from previous studies. Data on the effectiveness of ESK in ECT non-responders are sparse.

Methods: In this retrospective study, we investigated the effectiveness of intranasal ESK in real-world inpatients with (ECT+, n = 39) history of ECT non-response compared to patients who have not received an adequate course of ECT in their current episode (ECT-, n = 57). A factorial analysis of variance (ANOVA) has been used to determine the impact of ECT non-response on treatment outcome.

Results: A total of n = 96 patients (mean age 47.0; 52.1% women) with TRD were included in this study. There was a significant main effect of history of ECT non-response on MADRS score in the ANOVA (F = 10.386, p = 0.002). However, there was no significant interaction effect of time (pre-treatment, post-treatment)*history of ECT non-response in current episode (F = 2.166, p = 0.143). The response (34.9% vs. 21.9%, χ2 = 1.498, p = 0.167) and remission rates (24.4% vs. 12.1%, χ2 = 1.861, p = 0.141) were none significantly lower in the ECT + group than in the ECT- group. There was significant improvement in MADRS and BDI-II in the ECT + group. No major safety concerns occurred during the study.

Conclusion: There was no significant impact of ECT non-response on esketamine treatment outcome. Our results support the approach to offer esketamine to ECT non-responders given that the array of treatment alternatives is limited for these patients.

鼻内艾氯胺酮(ESK)是治疗难治性抑郁症(TRD)患者的一种新的治疗选择。既往有电痉挛治疗(ECT)无反应(ECT+)病史的患者通常被排除在既往研究之外。关于ESK在ECT无应答者中的有效性的数据很少。方法:在这项回顾性研究中,我们调查了鼻内ESK在现实世界中有ECT+无反应住院患者(n = 39)与在当前发作中未接受足够ECT疗程的患者(n = 57)的有效性。方差的因子分析(ANOVA)已被用于确定电痉挛治疗无反应对治疗结果的影响。结果:共n = 96例患者(平均年龄47.0;52.1%的女性TRD患者被纳入本研究。方差分析显示,电痉挛无反应史对MADRS评分有显著的主影响(F = 10.386, p = 0.002)。然而,时间(治疗前、治疗后)与当前发作ECT无反应史的交互作用不显著(F = 2.166, p = 0.143)。ECT +组的缓解率(34.9%比21.9%,χ2 = 1.498, p = 0.167)和缓解率(24.4%比12.1%,χ2 = 1.861, p = 0.141)均低于ECT-组。ECT +组的MADRS和BDI-II有显著改善。研究期间未发生重大安全问题。结论:电痉挛无反应对艾氯胺酮治疗效果无显著影响。我们的研究结果支持为ECT无反应患者提供艾氯胺酮的方法,因为这些患者的治疗选择有限。
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引用次数: 0
Facial emotion recognition function and white matter microstructural alterations in drug-naive, comorbidity-free autism. 未服药、无合并症的自闭症患者的面部情绪识别功能和白质微结构改变。
IF 3.7 3区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2025-12-01 Epub Date: 2024-05-22 DOI: 10.1007/s00406-024-01814-y
Xing Su, Siuching Kat, Hui Wang, Zenghui Ma, Tingni Yin, Liyang Zhao, Shuchen Peng, Xiaoyun Gong, Qinyi Liu, Gangqiang Han, Xue Li, Yanqing Guo, Jing Liu

Individuals with autism spectrum disorder have deficits in facial emotion recognition and white matter microstructural alterations. Nonetheless, most previous studies were confounded by different variables, such as psychiatric comorbidities and psychotropic medications used by ASD participants. Also, it remains unclear how exactly FER deficits are related to white matter microstructural alterations in ASD. Accordingly, we aimed to investigate the FER functions, white matter microstructure, and their relationship in drug-naive and comorbidity-free ASD individuals. 59 ASD individuals and 59 typically developed individuals were included, where 46 ASD and 50 TD individuals completed FER tasks. Covariance analysis showed scores were lower in both basic and complex FER tasks in the ASD group. Tract-Based Spatial Statistics showed FA values in widespread white matter fibers were lower in the ASD group than in the TD group, including forceps major and forceps minor of the corpus callosum, anterior thalamic radiation, corticospinal tract, cingulum, inferior frontal-occipital fasciculus, inferior longitudinal fasciculus, superior longitudinal fasciculus. Moreover, in the TD group but not the ASD group, the performance in the complex FER task was negatively correlated with the FA value in some white matter fibers, including forceps major of the corpus callosum, ATR, CT, cingulum, IFOF, ILF, SLF. Our study suggests children with ASD may experience deficits in facial emotion recognition and exhibit alterations in white matter microstructure. More importantly, our study indicates that white matter microstructural alterations may be involved in FER deficits in children with ASD.

自闭症谱系障碍患者在面部情绪识别和白质微结构改变方面存在缺陷。然而,之前的大多数研究都受到了不同变量的干扰,如自闭症参与者的精神并发症和精神药物使用。此外,FER缺陷与ASD患者白质微结构改变之间的确切关系仍不清楚。因此,我们旨在研究未服药和无合并症的 ASD 患者的 FER 功能、白质微结构及其关系。我们共纳入了59名ASD患者和59名典型发育患者,其中46名ASD患者和50名TD患者完成了FER任务。协方差分析表明,ASD 组在基本和复杂 FER 任务中的得分都较低。基于簇的空间统计显示,ASD组广泛白质纤维的FA值低于TD组,包括胼胝体的大镊和小镊,丘脑前辐射,皮质脊髓束,齿状突,下额枕筋束,下纵筋束,上纵筋束。此外,在TD组(而非ASD组)中,复杂FER任务的表现与一些白质纤维的FA值呈负相关,包括胼胝体的镊子大体、ATR、CT、钟状体、IFOF、ILF、SLF。我们的研究表明,患有 ASD 的儿童可能在面部情绪识别方面存在缺陷,并表现出白质微结构的改变。更重要的是,我们的研究表明,白质微结构的改变可能与 ASD 儿童的 FER 缺陷有关。
{"title":"Facial emotion recognition function and white matter microstructural alterations in drug-naive, comorbidity-free autism.","authors":"Xing Su, Siuching Kat, Hui Wang, Zenghui Ma, Tingni Yin, Liyang Zhao, Shuchen Peng, Xiaoyun Gong, Qinyi Liu, Gangqiang Han, Xue Li, Yanqing Guo, Jing Liu","doi":"10.1007/s00406-024-01814-y","DOIUrl":"10.1007/s00406-024-01814-y","url":null,"abstract":"<p><p>Individuals with autism spectrum disorder have deficits in facial emotion recognition and white matter microstructural alterations. Nonetheless, most previous studies were confounded by different variables, such as psychiatric comorbidities and psychotropic medications used by ASD participants. Also, it remains unclear how exactly FER deficits are related to white matter microstructural alterations in ASD. Accordingly, we aimed to investigate the FER functions, white matter microstructure, and their relationship in drug-naive and comorbidity-free ASD individuals. 59 ASD individuals and 59 typically developed individuals were included, where 46 ASD and 50 TD individuals completed FER tasks. Covariance analysis showed scores were lower in both basic and complex FER tasks in the ASD group. Tract-Based Spatial Statistics showed FA values in widespread white matter fibers were lower in the ASD group than in the TD group, including forceps major and forceps minor of the corpus callosum, anterior thalamic radiation, corticospinal tract, cingulum, inferior frontal-occipital fasciculus, inferior longitudinal fasciculus, superior longitudinal fasciculus. Moreover, in the TD group but not the ASD group, the performance in the complex FER task was negatively correlated with the FA value in some white matter fibers, including forceps major of the corpus callosum, ATR, CT, cingulum, IFOF, ILF, SLF. Our study suggests children with ASD may experience deficits in facial emotion recognition and exhibit alterations in white matter microstructure. More importantly, our study indicates that white matter microstructural alterations may be involved in FER deficits in children with ASD.</p>","PeriodicalId":11822,"journal":{"name":"European Archives of Psychiatry and Clinical Neuroscience","volume":" ","pages":"2417-2427"},"PeriodicalIF":3.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141075188","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Patterns and characteristics of visits to psychiatric emergency departments: a three-year data study in China. 中国精神科急诊就诊模式和特点:一项为期三年的数据研究。
IF 3.7 3区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2025-12-01 Epub Date: 2024-09-01 DOI: 10.1007/s00406-024-01881-1
Youping Wang, Xida Wang, Mingfeng Bi, Penglin Mou, Ruizhi Zhang, Cuiling Zhang, Shuyun Li, Miaoling Jiang, Lin Mi, Zezhi Li

The composition and characteristics of emergency patients in the Affiliated Brain Hospital, Guangzhou Medical University during 2020-2022 were retrospectively analyzed to provide data support for the optimization of the process of psychiatric emergency and the elastic allocation of emergency medical staff. This study collected data from patients who sought medical attention at the emergency department of the Affiliated Brain Hospital, Guangzhou Medical University between January 1, 2020, and December 31, 2022. The fundamental information of these patients was statistically analyzed using descriptive analytic methods. In addition, a comprehensive statistical analysis was performed on the data of patient visits, which included precise triage time points, months, and seasons, in order to evaluate the temporal distribution of patient visits. The patient population had an average age of 36.4 years and was slightly more female (54.08%). The mean age of the male and female patients was 36.4 ± 18.91 and 36.4 ± 16.80 years, respectively. There was no statistically significant age difference between the male and female patients (p > 0.05). The top five diseases were mental disorder (6,483 cases), bipolar disorder (3,017 cases), depressive episode (2522 cases), schizophrenia (1778 cases) and anxiety state (1097 cases), accounting for 35.63%, 16.58%, 13.86%, 9.77% and 6.03% of the total, respectively. Additionally, a notable record of psychiatric drug intoxication was noted. Significant comorbidity with physical disorders, such as hypertension (9.36%), hypokalemia (3.41%), diabetes (2.83%), and cerebral infarction (2.79%), was also seen. The results of seasonal and monthly analysis indicated that emergency attendance patterns fluctuated, peaking in the spring and fall. The patterns of daily visits also revealed two peak times. The first peak occurs from 8:00 to 10:00, and the second peak occurs from 14:00 to 16:00. This study emphasizes the increasing occurrence of mental problems in psychiatric crises, particularly among younger populations, underscoring the necessity for comprehensive care methods. Specialized treatment methods and collaborative networks are required to address the substantial prevalence of psychiatric medication poisoning. Efficient allocation of resources and heightened security protocols are vital in emergency departments, particularly during periods of high demand and in handling instances of patient hostility.

回顾性分析广州医科大学附属脑科医院2020-2022年间急诊患者的构成和特点,为优化精神科急诊流程和急诊医护人员的弹性配置提供数据支持。本研究收集了 2020 年 1 月 1 日至 2022 年 12 月 31 日期间在广州医科大学附属脑科医院急诊科就诊的患者数据。采用描述性分析方法对这些患者的基本信息进行了统计分析。此外,还对患者就诊数据进行了综合统计分析,包括精确的分诊时间点、月份和季节,以评估患者就诊的时间分布。患者的平均年龄为 36.4 岁,女性略多(54.08%)。男性和女性患者的平均年龄分别为(36.4 ± 18.91)岁和(36.4 ± 16.80)岁。男女患者的年龄差异无统计学意义(P > 0.05)。排在前五位的疾病分别是精神障碍(6483 例)、双相情感障碍(3017 例)、抑郁发作(2522 例)、精神分裂症(1778 例)和焦虑状态(1097 例),分别占总数的 35.63%、16.58%、13.86%、9.77% 和 6.03%。此外,精神科药物中毒的记录也很显著。此外,高血压(9.36%)、低钾血症(3.41%)、糖尿病(2.83%)和脑梗塞(2.79%)等躯体疾病也有显著的合并症。季节和月度分析结果表明,急诊就诊模式起伏不定,在春季和秋季达到高峰。每日就诊模式还显示出两个高峰期。第一个高峰出现在 8:00 至 10:00,第二个高峰出现在 14:00 至 16:00。这项研究强调,精神危机中的精神问题发生率越来越高,尤其是在年轻人群中,这凸显了综合护理方法的必要性。要解决精神科药物中毒的大量流行问题,就需要专业化的治疗方法和协作网络。在急诊科,有效分配资源和加强安全协议至关重要,尤其是在需求量大的时期和处理病人敌意的情况下。
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引用次数: 0
What autism features in first episode psychosis? Results from a 2-year follow-up study. 首发精神病的自闭症特征是什么?这是一项为期2年的随访研究。
IF 3.7 3区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2025-12-01 Epub Date: 2025-03-05 DOI: 10.1007/s00406-025-01986-1
Lorenzo Pelizza, Antonio Federico, Emanuela Leuci, Emanuela Quattrone, Derna Palmisano, Simona Pupo, Giuseppina Paulillo, Clara Pellegrini, Pietro Pellegrini, Marco Menchetti

The PANSS Autism Severity Score (PAUSS) is a popular measure of autistic features in First Episode Psychosis (FEP) samples. However, evidence on its longitudinal stability, course and treatment response is poor. Therefore, the main aim of this research was to compare clinical outcomes between FEP individuals with or without "autistic features" enrolled within an "Early Intervention in Psychosis" (EIP) service across 2 years of follow-up, as well as any significant association with EIP treatment components. FEP subjects completed the Positive And Negative Syndrome Scale (PANSS), the Global Assessment of Functioning (GAF), and the Health of the Nation Outcome Scale (HoNOS) at entry and across the follow-up. Statistical tests included Kaplan-Meyer survival analysis, mixed-design ANOVA, and multiple linear logistic regression analysis. 301 FEP subjects were enrolled (85 [28.0%] scored above the PAUSS cut-off score). Across the follow-up, the PAUSS + subgroup showed lower incidence rates of both symptomatic and functional remission. No PAUSS long-term stability was observed, but a statistically significant reduction in its values. This longitudinal change was mainly predicted by the total number of case management sessions offered within the EIP program. Our results suggest that the PAUSS could not represent a valid instrument to assess "trait-like" autistic features in FEP subjects. On contrary, it seems to capture a FEP subgroup characterized by higher severity levels in psychopathology and poorer outcomes and prognosis.

PANSS自闭症严重程度评分(PAUSS)是一种流行的测量首次发作精神病(FEP)样本中自闭症特征的方法。然而,关于其纵向稳定性、病程和治疗反应的证据不足。因此,本研究的主要目的是比较在“精神病早期干预”(EIP)服务中登记的有或没有“自闭症特征”的FEP个体在2年随访中的临床结果,以及与EIP治疗成分的任何显著关联。FEP受试者在开始和随访期间完成了阳性和阴性综合征量表(PANSS)、整体功能评估(GAF)和国家健康结局量表(HoNOS)。统计检验包括Kaplan-Meyer生存分析、混合设计方差分析和多元线性logistic回归分析。301名FEP受试者入组(85名[28.0%]得分高于PAUSS分值)。在整个随访过程中,PAUSS +亚组的症状和功能缓解发生率均较低。没有观察到PAUSS的长期稳定性,但其值在统计学上显著降低。这种纵向变化主要是由EIP项目提供的病例管理会议的总数预测的。我们的研究结果表明,PAUSS不能作为一种有效的工具来评估FEP受试者的“特质样”自闭症特征。相反,它似乎捕获了一个FEP亚组,其特征是精神病理学上的严重程度较高,预后和预后较差。
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引用次数: 0
Genetic polymorphism in β-site amyloid precursor protein-cleaving enzyme 1 affects the structure of medial temporal lobe and cognition in Alzheimer's disease: an exploratory study. β-位点淀粉样蛋白前体切割酶1基因多态性影响阿尔茨海默病内侧颞叶结构和认知的探索性研究
IF 3.7 3区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2025-12-01 Epub Date: 2024-12-28 DOI: 10.1007/s00406-024-01953-2
Wenwen Yin, Zhiwei Li, Wenhui Zheng, Xia Zhou, Ke Wan, Yating Tang, Jing Cao, Han Zhao, Xiaoqun Zhu, Zhongwu Sun

The β-site amyloid precursor protein-cleaving enzyme 1 (BACE1) gene polymorphism (rs638405) has been widely reported to be associated with Alzheimer's disease (AD) risk. However, studies on the relationship between BACE1 gene polymorphism (rs638405), brain volume, and cognition in AD patients remain scarce. To investigate the effect of genetic polymorphism in BACE1 on gray matter volume (GMV) and cognition in AD, this study recruited 111 cognitively unimpaired (CU) controls and 144 AD patients. The effect of BACE1 rs638405 polymorphism on cognition was explored in CU and AD groups. Then the interaction effect of the diagnosis and BACE1 rs638405 polymorphism on GMV was performed, following the post-hoc analysis of regions of interest (ROIs) in interaction analysis. Mediation analysis was used to elucidate the relationship among genotypes, ROIs and cognition. BACE1 rs638405 G carriers (BACE1 G+) showed significantly lower scores in global cognition and memory function than noncarriers (BACE1 G-) in AD group. Genotypes (G+/G-) and diagnosis (CU/AD) have interaction on GMV of medial temporal lobe (MTL) including the left parahippocampus and right hippocampus. Post-hoc analysis revealed that BACE1 G+ exhibited significantly lower GMV in ROIs compared to BACE1 G- in AD. Finally, mediation analysis further demonstrated that the GMV of ROIs mediated the effect of BACE1 rs638405 polymorphism on cognition in AD. Our results emphasize the BACE1 rs638405 gene polymorphisms may affect the GMV of MTL and cognition in AD, deepening the understanding of AD pathogenesis.

β-位点淀粉样蛋白前体蛋白切割酶1 (BACE1)基因多态性(rs638405)已被广泛报道与阿尔茨海默病(AD)风险相关。然而,关于BACE1基因多态性(rs638405)与AD患者脑容量和认知之间关系的研究仍然很少。为了研究BACE1基因多态性对AD患者灰质体积(GMV)和认知的影响,本研究招募了111名认知未受损(CU)对照组和144名AD患者。探讨BACE1 rs638405多态性对CU组和AD组认知的影响。然后在互作分析中对感兴趣区域(roi)进行事后分析,分析诊断与BACE1 rs638405多态性对GMV的互作效应。采用中介分析分析基因型、roi与认知之间的关系。BACE1 rs638405 G携带者(BACE1 G+)在AD组整体认知和记忆功能评分显著低于非携带者(BACE1 G-)。基因型(G+/G-)和诊断(CU/AD)对包括左副海马和右海马在内的内侧颞叶(MTL) GMV有交互作用。事后分析显示,与BACE1 G-在AD中的表现相比,BACE1 G+在roi中的GMV显著降低。最后,通过中介分析进一步证明,roi的GMV介导BACE1 rs638405多态性对AD认知的影响。我们的研究结果强调BACE1 rs638405基因多态性可能影响AD患者MTL的GMV和认知,加深了对AD发病机制的认识。
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引用次数: 0
Deciphering causality between social/physical activity and suicide attempt: evidence from Mendelian randomization. 解读社会/身体活动与自杀企图之间的因果关系:来自孟德尔随机化的证据。
IF 3.7 3区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2025-12-01 Epub Date: 2025-06-26 DOI: 10.1007/s00406-025-02048-2
Haiqi Li, Feixue Yue, Xuan Gu, Haijing Guan, Kaili Chen, Jiao Zhang, Hengyu Ji, Jinting He

Background: Previous research has indicated a link between social or physical activity and suicide attempt (SA), yet the causal relationship remains unclear, and the role of psychiatric disorders has not been elucidated.

Method: In this study, we used genetic variants of social or physical activity to examine the causal associations with SA based on iPSYCH database, and then replicate the results using FinnGen database.

Results: We found that sports clubs or gyms, walking for pleasure, light DIY and other exercises (e.g. bowling, swimming, cycling, and keep fit) may be protective factors for SA, while leisure/social inactivity may be risk factors. After FDR correction of P value, it was revealed that the OR [95%CI] of SA decreased per SD increase in walking for pleasure (0.23[0.07-0.73]), light DIY (0.21[0.07-0.59]), and other exercise (0.22[0.09-0.58]). Within the replication phase, genetic prediction analyses revealed that walking for pleasure, light DIY, and other exercises were associated with reduced susceptibility to SA (PFDR < 0.05). Given the high comorbidity between psychiatric disorders and SA, we employed two-step MR and multivariate MR (MVMR) to evaluate the proportions the effect of the mediator. We found that Attention Deficit Hyperactivity Disorder (ADHD) explained 24.48% of the total effect of light DIY on SA, 33.52% of the total effect of other exercises.

Conclusion: Our research findings highlight the protective effect of social/physical activity in SA, and elucidated that increasing light DIY and other exercise can be used as a prevention strategy of SA, particularly for individuals who have ADHD.

背景:先前的研究表明社交或体育活动与自杀企图(SA)之间存在联系,但因果关系尚不清楚,精神疾病的作用尚未阐明。方法:基于iPSYCH数据库,利用社会活动或体育活动的遗传变异来检验SA的因果关系,并利用FinnGen数据库复制结果。结果:我们发现体育俱乐部或健身房、散步、轻DIY和其他运动(如保龄球、游泳、骑自行车、健身)可能是SA的保护因素,而休闲/社交活动不足可能是SA的危险因素。经FDR校正P值后发现,每增加SD,散步(0.23[0.07-0.73])、轻度DIY(0.21[0.07-0.59])和其他运动(0.22[0.09-0.58])的SA的OR [95%CI]降低。在复制阶段,遗传预测分析显示,散步、轻DIY和其他运动与SA易感性降低相关(PFDR < 0.05)。鉴于精神疾病和SA之间的高合并症,我们采用两步磁共振和多变量磁共振(MVMR)来评估中介的比例影响。我们发现注意缺陷多动障碍(ADHD)解释了轻DIY对SA的总影响的24.48%,其他运动的总影响的33.52%。结论:我们的研究结果强调了社会/身体活动对SA的保护作用,并阐明了增加轻度DIY和其他运动可以作为SA的预防策略,特别是对于患有ADHD的个体。
{"title":"Deciphering causality between social/physical activity and suicide attempt: evidence from Mendelian randomization.","authors":"Haiqi Li, Feixue Yue, Xuan Gu, Haijing Guan, Kaili Chen, Jiao Zhang, Hengyu Ji, Jinting He","doi":"10.1007/s00406-025-02048-2","DOIUrl":"10.1007/s00406-025-02048-2","url":null,"abstract":"<p><strong>Background: </strong>Previous research has indicated a link between social or physical activity and suicide attempt (SA), yet the causal relationship remains unclear, and the role of psychiatric disorders has not been elucidated.</p><p><strong>Method: </strong>In this study, we used genetic variants of social or physical activity to examine the causal associations with SA based on iPSYCH database, and then replicate the results using FinnGen database.</p><p><strong>Results: </strong>We found that sports clubs or gyms, walking for pleasure, light DIY and other exercises (e.g. bowling, swimming, cycling, and keep fit) may be protective factors for SA, while leisure/social inactivity may be risk factors. After FDR correction of P value, it was revealed that the OR [95%CI] of SA decreased per SD increase in walking for pleasure (0.23[0.07-0.73]), light DIY (0.21[0.07-0.59]), and other exercise (0.22[0.09-0.58]). Within the replication phase, genetic prediction analyses revealed that walking for pleasure, light DIY, and other exercises were associated with reduced susceptibility to SA (P<sub>FDR</sub> < 0.05). Given the high comorbidity between psychiatric disorders and SA, we employed two-step MR and multivariate MR (MVMR) to evaluate the proportions the effect of the mediator. We found that Attention Deficit Hyperactivity Disorder (ADHD) explained 24.48% of the total effect of light DIY on SA, 33.52% of the total effect of other exercises.</p><p><strong>Conclusion: </strong>Our research findings highlight the protective effect of social/physical activity in SA, and elucidated that increasing light DIY and other exercise can be used as a prevention strategy of SA, particularly for individuals who have ADHD.</p>","PeriodicalId":11822,"journal":{"name":"European Archives of Psychiatry and Clinical Neuroscience","volume":" ","pages":"2367-2378"},"PeriodicalIF":3.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144495328","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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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European Archives of Psychiatry and Clinical Neuroscience
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