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Reduction in hippocampal GABAergic transmission in a low birth weight rat model of depression. 低出生体重抑郁症大鼠模型的海马 GABA 能传导减少。
IF 3.8 4区 医学 Q1 Medicine Pub Date : 2023-12-01 Epub Date: 2023-03-10 DOI: 10.1017/neu.2023.18
Zita Dósa, Jose Luis Nieto-Gonzalez, Betina Elfving, Karin Sørig Hougaard, Mai Marie Holm, Gregers Wegener, Kimmo Jensen

Prenatal stress is believed to increase the risk of developing neuropsychiatric disorders, including major depression. Adverse genetic and environmental impacts during early development, such as glucocorticoid hyper-exposure, can lead to changes in the foetal brain, linked to mental illnesses developed in later life. Dysfunction in the GABAergic inhibitory system is associated with depressive disorders. However, the pathophysiology of GABAergic signalling is poorly understood in mood disorders. Here, we investigated GABAergic neurotransmission in the low birth weight (LBW) rat model of depression. Pregnant rats, exposed to dexamethasone, a synthetic glucocorticoid, during the last week of gestation, yielded LBW offspring showing anxiety- and depressive-like behaviour in adulthood. Patch-clamp recordings from dentate gyrus granule cells in brain slices were used to examine phasic and tonic GABAA receptor-mediated currents. The transcriptional levels of selected genes associated with synaptic vesicle proteins and GABAergic neurotransmission were investigated. The frequency of spontaneous inhibitory postsynaptic currents (sIPSC) was similar in control and LBW rats. Using a paired-pulse protocol to stimulate GABAergic fibres impinging onto granule cells, we found indications of decreased probability of GABA release in LBW rats. However, tonic GABAergic currents and miniature IPSCs, reflecting quantal vesicle release, appeared normal. Additionally, we found elevated expression levels of two presynaptic proteins, Snap-25 and Scamp2, components of the vesicle release machinery. The results suggest that altered GABA release may be an essential feature in the depressive-like phenotype of LBW rats.

产前压力被认为会增加罹患神经精神疾病(包括重度抑郁症)的风险。早期发育过程中的不良遗传和环境影响,如糖皮质激素暴露过多,可导致胎儿大脑发生变化,并与日后的精神疾病有关。GABA 能抑制系统的功能障碍与抑郁症有关。然而,人们对情绪障碍中 GABA 能信号的病理生理学还知之甚少。在此,我们研究了低出生体重(LBW)抑郁模型大鼠的 GABA 能神经传递。妊娠大鼠在妊娠最后一周暴露于地塞米松(一种合成糖皮质激素),所产的低出生体重后代在成年后表现出焦虑和抑郁样行为。研究人员利用对大脑切片中齿状回颗粒细胞的膜片钳记录来检测相性和强直性 GABAA 受体介导的电流。研究还调查了与突触小泡蛋白和GABA能神经递质相关的部分基因的转录水平。对照组大鼠和 LBW 大鼠的自发抑制性突触后电流(sIPSC)频率相似。使用成对脉冲方案刺激冲击颗粒细胞的 GABA 能纤维,我们发现 LBW 大鼠释放 GABA 的几率有所下降。然而,反映量子囊泡释放的强直性 GABA 能电流和微型 IPSC 似乎正常。此外,我们还发现两种突触前蛋白 Snap-25 和 Scamp2 的表达水平升高,它们是囊泡释放机制的组成部分。这些结果表明,GABA释放的改变可能是LBW大鼠抑郁样表型的一个基本特征。
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引用次数: 0
Pharmacogenetics of angiotensin modulators according to APOE-ϵ4 alleles and the ACE insertion/deletion polymorphism in Alzheimer's disease. 根据阿尔茨海默病中 APOE-ϵ4 等位基因和 ACE 插入/缺失多态性确定血管紧张素调节剂的药物遗传学。
IF 3.8 4区 医学 Q1 Medicine Pub Date : 2023-12-01 Epub Date: 2023-08-22 DOI: 10.1017/neu.2023.38
Fabricio Ferreira de Oliveira, Sandro Soares de Almeida, Elizabeth Suchi Chen, Marilia Cardoso Smith, Paulo Henrique Ferreira Bertolucci

Objective: In Alzheimer's disease (AD), angiotensin II receptor blockers (ARBs) could reduce cerebrovascular dysfunction, while angiotensin-converting enzyme inhibitors (ACEis) might increase brain amyloid-β by suppressing effects of the angiotensin-converting enzyme 1, an amyloid-β-degrading enzyme. However, ACEis could benefit patients with AD by reducing the amyloidogenic processing of the amyloid precursor protein, by central cholinergic and anti-inflammatory mechanisms, and by peripheral modulation of glucose homeostasis. We aimed to investigate whether the ACE insertion/deletion polymorphism is associated with clinical changes in patients with AD, while considering apolipoprotein E (APOE)-ϵ4 carrier status and blood pressure response to angiotensin modulators.

Methods: Consecutive outpatients with late-onset AD were screened with cognitive tests and anthropometric measurements, while their caregivers were queried for functional and caregiver burden scores. Prospective pharmacogenetic associations were estimated for 1 year, taking APOE-ϵ4 carrier status and genotypes of the ACE insertion/deletion polymorphism into account, along with treatment with ACEis or ARBs.

Results: For 193 patients (67.4% women, 53.4% APOE-ϵ4 carriers), the ACE insertion/deletion polymorphism was in Hardy-Weinberg equilibrium (p = 0.281), while arterial hypertension was prevalent in 80.3% (n = 124 used an ACEi, n = 21 used an ARB). ARBs benefitted mostly APOE-ϵ4 carriers concerning caregiver burden variations, cognitive and functional decline. ACEis benefitted APOE-ϵ4 non-carriers concerning cognitive and functional decline due to improved blood pressure control in addition to possible central mechanisms. The ACE insertion/deletion polymorphism led to variable response to angiotensin modulators concerning neurological outcomes and blood pressure variations.

Conclusion: Angiotensin modulators may be disease-modifiers in AD, while genetic stratification of samples is recommended in clinical studies.

目的:在阿尔茨海默病(AD)患者中,血管紧张素II受体阻滞剂(ARBs)可减轻脑血管功能障碍,而血管紧张素转换酶抑制剂(ACEis)可能会通过抑制血管紧张素转换酶1(一种淀粉样蛋白-β降解酶)的作用而增加脑淀粉样蛋白-β。然而,血管紧张素转换酶抑制剂可通过减少淀粉样前体蛋白的淀粉样蛋白生成过程、中枢胆碱能和抗炎机制以及外周葡萄糖稳态调节,使 AD 患者受益。我们的目的是研究ACE插入/缺失多态性是否与AD患者的临床变化有关,同时考虑载脂蛋白E(APOE)-ϵ4携带者状态和血压对血管紧张素调节剂的反应:通过认知测试和人体测量对连续门诊的晚发性AD患者进行筛查,同时询问其照顾者的功能和照顾者负担评分。考虑到 APOE-ϵ4 携带者身份和 ACE 插入/缺失多态性基因型,以及 ACEis 或 ARBs 治疗情况,对一年的前瞻性药物遗传学关联进行了估算:在 193 名患者(67.4% 为女性,53.4% 为 APOE-ϵ4 携带者)中,ACE 插入/缺失多态性处于哈代-温伯格平衡状态(p = 0.281),80.3% 的患者患有动脉高血压(n = 124 使用 ACEi,n = 21 使用 ARB)。在照顾者负担变化、认知和功能衰退方面,ARBs 主要使 APOE-ϵ4 携带者受益。由于改善了血压控制以及可能的中枢机制,ACE 类药物使 APOE-ϵ4 非携带者在认知和功能衰退方面受益。ACE插入/缺失多态性导致神经系统结果和血压变化对血管紧张素调节剂的不同反应:结论:血管紧张素调节剂可能是AD的疾病调节剂,建议在临床研究中对样本进行基因分层。
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引用次数: 1
The COVID-19 pandemic and obsessive-compulsive disorder: a systematic review of comparisons between males and females. COVID-19大流行与强迫症:对男性和女性比较的系统回顾。
IF 3.8 4区 医学 Q1 Medicine Pub Date : 2023-10-01 Epub Date: 2023-03-02 DOI: 10.1017/neu.2023.15
Erfan Jalalifar, Amirreza Arad, Mohsen Rastkar, Rasa Beheshti

Coronavirus disease, one of the most disastrous epidemics, has caused a worldwide crisis, and the containment measures applied to decelerate the progression of the pandemic can increase the risk of obsessive-compulsive disorder (OCD). Identifying vulnerable groups in this area can lead us to better resource expenditure, and therefore, this systematic review aims to make a comparison between males and females to determine which of the two groups was most affected by the COVID-19 pandemic regarding OCD. Also, a meta-analysis was designed to investigate the prevalence of OCD during the COVID-19 pandemic. A comprehensive search was conducted among three databases (Medline, Scopus, Web of Science) until August 2021 which resulted in 197 articles, and 24 articles met our inclusion criteria. Overall, more than half of the articles stated the role of gender in OCD during the COVID-19 pandemic. Several articles emphasized the role of the female gender, and some others the role of the male gender. The meta-analysis revealed a 41.2% overall prevalence of OCD during the COVID pandemic and 47.1% and 39.1% OCD prevalence for female and male genders respectively. However, the difference between the two genders was not statistically significant. Generally, it seems that females are at greater risk of OCD during the COVID-19 pandemic. In the following groups, the female gender may have acted as a risk factor: under-18 years students, hospital staff, and the studies in the Middle East. In none of the categories, male gender was clearly identified as a risk factor.

冠状病毒病是最具灾难性的流行病之一,已经引发了一场全球性危机,为减缓疫情发展而采取的遏制措施可能会增加患强迫症的风险。确定这一领域的弱势群体可以帮助我们更好地使用资源,因此,本系统综述旨在对男性和女性进行比较,以确定哪一个群体受COVID-19大流行的影响最大。此外,还设计了一项荟萃分析,以调查COVID-19大流行期间强迫症的患病率。综合检索三个数据库(Medline、Scopus、Web of Science)至2021年8月,共检索到197篇文章,其中24篇符合我们的纳入标准。总体而言,超过一半的文章阐述了在COVID-19大流行期间性别在强迫症中的作用。有几篇文章强调了女性的作用,还有一些则强调了男性的作用。meta分析显示,COVID大流行期间强迫症的总体患病率为41.2%,女性和男性的强迫症患病率分别为47.1%和39.1%。然而,两性之间的差异没有统计学意义。一般来说,在COVID-19大流行期间,女性患强迫症的风险似乎更大。在以下群体中,女性可能是一个风险因素:18岁以下的学生、医院工作人员和中东的研究人员。在所有类别中,男性性别都没有被明确认定为风险因素。
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引用次数: 2
COVID-19 as a polymorphic inflammatory spectrum of diseases: a review with focus on the brain. COVID-19是一种多态炎症谱疾病:以大脑为重点的综述
IF 3.8 4区 医学 Q1 Medicine Pub Date : 2023-10-01 Epub Date: 2023-03-02 DOI: 10.1017/neu.2023.17
Siu Wa Tang, Daiga Maret Helmeste, Brian E Leonard

There appear to be huge variations and aberrations in the reported data in COVID-19 2 years now into the pandemic. Conflicting data exist at almost every level and also in the reported epidemiological statistics across different regions. It is becoming clear that COVID-19 is a polymorphic inflammatory spectrum of diseases, and there is a wide range of inflammation-related pathology and symptoms in those infected with the virus. The host's inflammatory response to COVID-19 appears to be determined by genetics, age, immune status, health status and stage of disease. The interplay of these factors may decide the magnitude, duration, types of pathology, symptoms and prognosis in the spectrum of COVID-19 disorders, and whether neuropsychiatric disorders continue to be significant. Early and successful management of inflammation reduces morbidity and mortality in all stages of COVID-19.

在COVID-19大流行两年后,报告的数据似乎存在巨大差异和偏差。几乎在每一级都存在相互矛盾的数据,在不同区域报告的流行病学统计数据中也是如此。越来越清楚的是,COVID-19是一种多态炎症谱疾病,感染该病毒的人存在广泛的炎症相关病理和症状。宿主对COVID-19的炎症反应似乎由遗传、年龄、免疫状态、健康状况和疾病阶段决定。这些因素的相互作用可能决定COVID-19疾病谱系中的程度、持续时间、病理类型、症状和预后,以及神经精神疾病是否继续显著。早期和成功的炎症管理可降低COVID-19各阶段的发病率和死亡率。
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引用次数: 2
Prevalence of fear of COVID-19, depression, and anxiety among undergraduate students during remote classes. 远程授课大学生对COVID-19的恐惧、抑郁和焦虑的患病率
IF 3.8 4区 医学 Q1 Medicine Pub Date : 2023-10-01 Epub Date: 2023-01-12 DOI: 10.1017/neu.2023.4
Rizia Rocha Silva, Douglas Assis Teles Santos, Bagnólia Araújo Costa, Nelson Carvalho Farias Júnior, Allison Gustavo Braz, Gustavo De Conti Teixeira Costa, Marilia Santos Andrade, Rodrigo Luiz Vancini, Katja Weiss, Beat Knechtle, Claudio Andre Barbosa de Lira

Background: During the coronavirus disease 2019 (COVID-19) pandemic, undergraduate students were exposed to symptoms of psychological suffering during remote classes. Therefore, it is important to investigate the factors that may be generated and be related to such outcomes.

Objective: To investigate the association between fear of COVID-19, depression, anxiety, and related factors in undergraduate students during remote classes.

Methods: This cross-sectional study included 218 undergraduate students (60.6% women and 39.4% men). Students answered a self-administered online questionnaire designed to gather personal information, pandemic exposure, physical activity level, fear of COVID-19 using the 'Fear of COVID-19 Scale', symptoms of depression using the Patient Health Questionnaire-9, and anxiety using General Anxiety Disorder-7.

Results: Undergraduate students had a high prevalence of depression and anxiety (83.0% and 76.1%, respectively) but a low prevalence of fear of COVID-19 (28.9%) during remote classes. Multivariate analysis revealed that women who reported health status as neither good nor bad and who had lost a family member from COVID-19 had the highest levels of fear. For depression and anxiety, the main related factors found were female gender, bad health status, insufficiently active, and complete adherence to the restriction measures.

Conclusion: These findings may be used to develop actions to manage symptoms of anxiety and depression among students, with interventions through physical activity programmes to improve mental health.

背景:在2019冠状病毒病(COVID-19)大流行期间,大学生在远程课堂上接触到心理痛苦的症状。因此,重要的是要调查可能产生的因素和相关的这些结果。目的:探讨远程授课大学生新冠肺炎恐惧与抑郁、焦虑及相关因素的关系。方法:本横断面研究纳入218名本科生(女性60.6%,男性39.4%)。学生们回答了一份自我管理的在线问卷,旨在收集个人信息、大流行暴露、身体活动水平、使用“COVID-19恐惧量表”对COVID-19的恐惧、使用患者健康问卷-9的抑郁症状和使用一般焦虑障碍-7的焦虑。结果:远程授课的大学生抑郁和焦虑的患病率较高(分别为83.0%和76.1%),对新冠肺炎的恐惧患病率较低(28.9%)。多变量分析显示,报告健康状况不佳也不差以及因COVID-19失去家庭成员的女性的恐惧程度最高。抑郁和焦虑的主要相关因素为女性、健康状况不佳、运动不足和完全遵守限制措施。结论:这些发现可用于制定措施来管理学生的焦虑和抑郁症状,并通过体育活动计划进行干预,以改善心理健康。
{"title":"Prevalence of fear of COVID-19, depression, and anxiety among undergraduate students during remote classes.","authors":"Rizia Rocha Silva, Douglas Assis Teles Santos, Bagnólia Araújo Costa, Nelson Carvalho Farias Júnior, Allison Gustavo Braz, Gustavo De Conti Teixeira Costa, Marilia Santos Andrade, Rodrigo Luiz Vancini, Katja Weiss, Beat Knechtle, Claudio Andre Barbosa de Lira","doi":"10.1017/neu.2023.4","DOIUrl":"10.1017/neu.2023.4","url":null,"abstract":"<p><strong>Background: </strong>During the coronavirus disease 2019 (COVID-19) pandemic, undergraduate students were exposed to symptoms of psychological suffering during remote classes. Therefore, it is important to investigate the factors that may be generated and be related to such outcomes.</p><p><strong>Objective: </strong>To investigate the association between fear of COVID-19, depression, anxiety, and related factors in undergraduate students during remote classes.</p><p><strong>Methods: </strong>This cross-sectional study included 218 undergraduate students (60.6% women and 39.4% men). Students answered a self-administered online questionnaire designed to gather personal information, pandemic exposure, physical activity level, fear of COVID-19 using the 'Fear of COVID-19 Scale', symptoms of depression using the Patient Health Questionnaire-9, and anxiety using General Anxiety Disorder-7.</p><p><strong>Results: </strong>Undergraduate students had a high prevalence of depression and anxiety (83.0% and 76.1%, respectively) but a low prevalence of fear of COVID-19 (28.9%) during remote classes. Multivariate analysis revealed that women who reported health status as neither good nor bad and who had lost a family member from COVID-19 had the highest levels of fear. For depression and anxiety, the main related factors found were female gender, bad health status, insufficiently active, and complete adherence to the restriction measures.</p><p><strong>Conclusion: </strong>These findings may be used to develop actions to manage symptoms of anxiety and depression among students, with interventions through physical activity programmes to improve mental health.</p>","PeriodicalId":7066,"journal":{"name":"Acta Neuropsychiatrica","volume":" ","pages":"303-313"},"PeriodicalIF":3.8,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9188484","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Psychomotor and neurofunctional aspects after COVID-19. COVID-19后的精神运动和神经功能方面。
IF 3.8 4区 医学 Q1 Medicine Pub Date : 2023-10-01 Epub Date: 2023-01-06 DOI: 10.1017/neu.2023.2
Lara L W Chiminazzo, Thiago Berti Kirsten

Objective: The pandemic caused by the coronavirus disease 2019 (COVID-19, SARS-CoV-2 virus) has infected more than 646 million people and caused more than 6.6 million deaths worldwide (December/2022). It is surprising that a virus that affects airways can trigger neurological manifestations. The aim of this study was to create and apply specific questionnaires/evaluations for post-COVID-19 patients to profile any neurofunctional sequelae.

Methods: Epidemiological and psychomotor aspects as well as the intensity of cognitive, memory, attention, and concentration impairment were assessed. A total of 184 subjects post-COVID-19 and a control group (n = 30) were evaluated.

Results: The most prevalent blood types in the COVID-19 group were the same as those from control group and in Brazilian population (no influence). Loss of smell/taste and headache were the most common reported symptoms. Talking about psychomotor and neurofunctional aspects, COVID-19 induced marked impairments in the tests: fine motor development (diadochokinesis, puppets, fan, and knead paper); balance (immobility, static balance, feet in line, and persistence); episodic memory after distractors; verbal fluency; and clock, compared to the control group data. There was also marked increase of synkinesis. Therefore, COVID-19 induced impairments in psychomotor assessments and in different cognitive aspects of the Mini-Mental State Examination. These results are more surprising considering that most participants did not report pre-existing disease and did not require hospitalisation.

Conclusion: COVID-19 induced psychomotor, neurofunctional, and memory impairments, including in young and healthy subjects. The present study revealed neurological impairments, which should be considered in the development of rehabilitation protocols for patients affected by COVID-19.

目的:由2019冠状病毒病(COVID-19, SARS-CoV-2病毒)引起的大流行已导致全球超过6.46亿人感染,660多万人死亡(12月/2022)。令人惊讶的是,一种影响呼吸道的病毒可以引发神经系统症状。本研究的目的是为covid -19后患者创建和应用特定的问卷/评估,以描述任何神经功能后遗症。方法:从流行病学和精神运动学角度,以及认知、记忆、注意力和注意力障碍的程度进行评估。共对184名新冠肺炎后患者和30名对照组进行评估。结果:COVID-19组中最流行的血型与对照组和巴西人群相同(无影响)。嗅觉/味觉丧失和头痛是最常见的报告症状。在精神运动和神经功能方面,COVID-19在测试中引起了明显的损伤:精细运动发育(运动、木偶、扇子和揉纸);平衡(不动,静态平衡,双脚成直线,坚持);干扰后情景记忆;语言流畅;与对照组的数据相比。联胞现象也明显增加。因此,COVID-19导致的精神运动评估和不同认知方面的精神状态检查障碍。考虑到大多数参与者没有报告先前存在的疾病,也不需要住院治疗,这些结果更令人惊讶。结论:COVID-19诱导精神运动、神经功能和记忆障碍,包括年轻和健康受试者。本研究揭示了神经损伤,在制定COVID-19患者康复方案时应考虑到这一点。
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引用次数: 0
Structural impairment in superficial and deep white matter in schizophrenia. 精神分裂症患者浅层和深层白质结构损伤。
IF 3.8 4区 医学 Q1 Medicine Pub Date : 2023-08-25 DOI: 10.1017/neu.2023.44
Sung Woo Joo, Young Tak Jo, Soojin Ahn, Young Jae Choi, Woohyeok Choi, Sang Kyoung Kim, Soohyun Joe, Jungsun Lee

Objective: Although disconnectivity among brain regions has been one of the main hypotheses for schizophrenia, the superficial white matter (SWM) has received less attention in schizophrenia research than the deep white matter (DWM) owing to the challenge of consistent reconstruction across subjects.

Methods: We obtained the diffusion magnetic resonance imaging (dMRI) data of 223 healthy controls and 143 patients with schizophrenia. After harmonising the raw dMRIs from three different studies, we performed whole-brain two-tensor tractography and fibre clustering on the tractography data. We compared the fractional anisotropy (FA) of white matter tracts between healthy controls and patients with schizophrenia. Spearman's rho was adopted for the associations with clinical symptoms measured by the Positive and Negative Syndrome Scale (PANSS). The Bonferroni correction was used to adjust multiple testing.

Results: Among the 33 DWM and 8 SWM tracts, patients with schizophrenia had a lower FA in 14 DWM and 4 SWM tracts than healthy controls, with small effect sizes. In the patient group, the FA deviations of the corticospinal and superficial-occipital tracts were negatively correlated with the PANSS negative score; however, this correlation was not evident after adjusting for multiple testing.

Conclusion: We observed the structural impairments of both the DWM and SWM tracts in patients with schizophrenia. The SWM could be a potential target of interest in future research on neural biomarkers for schizophrenia.

目的:虽然脑区域之间的不连接一直是精神分裂症的主要假设之一,但由于跨受试者一致性重建的挑战,在精神分裂症研究中,浅表白质(SWM)受到的关注比深层白质(DWM)少。方法:获取223名健康对照和143名精神分裂症患者的弥散磁共振成像(dMRI)资料。在对来自三个不同研究的原始dmri进行协调后,我们对神经束造影数据进行了全脑双张量神经束造影和纤维聚类。我们比较了健康对照者和精神分裂症患者白质束的分数各向异性(FA)。阳性和阴性症状量表(PANSS)与临床症状的相关性采用Spearman's rho。采用Bonferroni校正对多重检验进行校正。结果:在33个DWM束和8个SWM束中,精神分裂症患者在14个DWM束和4个SWM束中的FA低于健康对照组,但效应量较小。患者组皮质脊髓束和枕浅束FA偏差与PANSS负评分呈负相关;然而,在调整多重检验后,这种相关性并不明显。结论:我们在精神分裂症患者中观察到DWM束和SWM束的结构损伤。SWM可能是未来精神分裂症神经生物标志物研究的潜在目标。
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引用次数: 0
Lexical stability of psychiatric clinical notes from electronic health records over a decade. 十多年来电子健康记录中精神病临床记录的词汇稳定性
IF 3.8 4区 医学 Q1 Medicine Pub Date : 2023-08-25 DOI: 10.1017/neu.2023.46
Lasse Hansen, Kenneth Enevoldsen, Martin Bernstorff, Erik Perfalk, Andreas A Danielsen, Kristoffer L Nielbo, Søren D Østergaard

Objective: Natural language processing (NLP) methods hold promise for improving clinical prediction by utilising information otherwise hidden in the clinical notes of electronic health records. However, clinical practice - as well as the systems and databases in which clinical notes are recorded and stored - change over time. As a consequence, the content of clinical notes may also change over time, which could degrade the performance of prediction models. Despite its importance, the stability of clinical notes over time has rarely been tested.

Methods: The lexical stability of clinical notes from the Psychiatric Services of the Central Denmark Region in the period from January 1, 2011, to November 22, 2021 (a total of 14,811,551 clinical notes describing 129,570 patients) was assessed by quantifying sentence length, readability, syntactic complexity and clinical content. Changepoint detection models were used to estimate potential changes in these metrics.

Results: We find lexical stability of the clinical notes over time, with minor deviations during the COVID-19 pandemic. Out of 2988 data points, 17 possible changepoints (corresponding to 0.6%) were detected. The majority of these were related to the discontinuation of a specific note type.

Conclusion: We find lexical and syntactic stability of clinical notes from psychiatric services over time, which bodes well for the use of NLP for predictive modelling in clinical psychiatry.

目的:自然语言处理(NLP)方法有望通过利用电子健康记录临床记录中隐藏的信息来改进临床预测。然而,临床实践——以及记录和存储临床记录的系统和数据库——随着时间的推移而变化。因此,临床记录的内容也可能随着时间的推移而改变,这可能会降低预测模型的性能。尽管它很重要,但临床记录随时间的稳定性很少得到测试。方法:对2011年1月1日至2021年11月22日期间(共14811551份临床记录,共129570例患者)的临床记录,通过量化句子长度、可读性、句法复杂性和临床内容,对临床记录的词汇稳定性进行评估。变更点检测模型用于估计这些度量中的潜在变更。结果:我们发现临床笔记的词汇稳定性随时间而变化,在COVID-19大流行期间有轻微的偏差。在2988个数据点中,检测到17个可能的变化点(对应0.6%)。其中大多数与某种特定类型的纸币的停止使用有关。结论:我们发现精神病服务的临床笔记的词汇和句法随时间的变化具有稳定性,这预示着在临床精神病学中使用NLP进行预测建模是一个好兆头。
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引用次数: 0
Midline brain structures in adult Niemann-Pick type C disease: a cross-sectional study. 成人Niemann-Pick C型疾病的中线脑结构:一项横断面研究。
IF 3.8 4区 医学 Q1 Medicine Pub Date : 2023-08-24 DOI: 10.1017/neu.2023.43
Mark Walterfang, Tsutomu Takahashi, Maria A Di Biase, Vanessa L Cropley, Daiki Sasabayashi, Michio Suzuki, Dennis Velakoulis, Christos Pantelis

Objective: A range of neuropathological changes occur in the brains of individuals with adult Niemann-Pick type C disease (NPC), a recessive disorder of cholesterol trafficking that results in accumulation of cholesterol and gangliosides in lysosomes, particularly in neurons. One of the most significant regions of grey matter loss occurs in the thalami, which abut the midline. What is not known is whether these are neurodevelopmental in origin well prior to symptomatic onset. We aimed to examine other markers of midline developmental anomalies in adults with NPC.

Method: We examined the size of adhesio interthalamica (AI) and cavum septum pellucidum (CSP) (if present) in nine individuals diagnosed with NPC and nine healthy comparison subjects, matched for age and gender, using a 3T magnetic resonance volumetric sequence and measured the length of the AI and CSP in mm.

Results: We found that 5/9 NPC patients and 0/9 controls had a missing AI. AI length was significantly shorter in the patient group. No subject in other group had a large CSP, and CSP length did not differ. Duration of illness showed a trend to a negative correlation with AI length in patients.

Conclusions: Our findings suggest that adult NPC patients show some markers of early neurodevelopmental disturbance, matching findings seen in psychotic disorders. The differences in AI, but not CSP, suggest neurodevelopmental change may occur early in gestation rather than post-partum. The relationship with duration of illness suggests that there may be atrophy over time in these structures, consistent with prior analyses of grey matter regions in NPC.

目的:成年尼曼-匹克C型病(NPC)患者的大脑发生一系列神经病理学变化,这是一种隐性的胆固醇运输障碍,导致胆固醇和神经节苷脂在溶酶体中积累,尤其是在神经元中。灰质损失最显著的区域之一发生在丘脑,它靠近中线。目前尚不清楚的是,这些症状是否早在症状出现之前就已经起源于神经发育。我们旨在检测成人NPC中线发育异常的其他标志物。方法:我们检测了9名诊断为NPC的个体和9名年龄和性别匹配的健康对照受试者的丘脑间粘连(AI)和透明隔腔(CSP)(如果存在)的大小,使用3T磁共振体积序列,测量AI和CSP的长度,单位为mm。结果:我们发现5/9名NPC患者和0/9名对照组的AI缺失。患者组的AI长度明显更短。另一组受试者均无大的CSP,CSP长度无差异。患者的病程与AI长度呈负相关。结论:我们的研究结果表明,成年NPC患者表现出一些早期神经发育障碍的标志物,与精神病患者的研究结果相匹配。AI(而非CSP)的差异表明,神经发育变化可能发生在妊娠早期,而不是产后。与疾病持续时间的关系表明,随着时间的推移,这些结构可能会萎缩,这与之前对NPC灰质区域的分析一致。
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引用次数: 0
Distributed genetic effects of the corpus callosum subregions suggest links to neuropsychiatric disorders and related traits. 胼胝体亚区的分布遗传效应表明与神经精神障碍和相关特征有关。
IF 3.8 4区 医学 Q1 Medicine Pub Date : 2023-08-24 DOI: 10.1017/neu.2023.32
Megan L Campbell, Shareefa Dalvie, Alexey Shadrin, Dennis van der Meer, Kevin O'Connell, Oleksander Frei, Ole A Andreassen, Dan J Stein, Jaroslav Rokicki

Background: The corpus callosum (CC) is a brain structure with a high heritability and potential role in psychiatric disorders. However, the genetic architecture of the CC and the genetic link with psychiatric disorders remain largely unclear. We investigated the genetic architectures of the volume of the CC and its subregions and the genetic overlap with psychiatric disorders.

Methods: We applied multivariate genome-wide association study (GWAS) to genetic and T1-weighted magnetic resonance imaging (MRI) data of 40,894 individuals from the UK Biobank, aiming to boost genetic discovery and to assess the pleiotropic effects across volumes of the five subregions of the CC (posterior, mid-posterior, central, mid-anterior and anterior) obtained by FreeSurfer 7.1. Multivariate GWAS was run combining all subregions, co-varying for relevant variables. Gene-set enrichment analyses were performed using MAGMA. Linkage disequilibrium score regression (LDSC) was used to determine Single nucleotide polymorphism (SNP)-based heritability of total CC volume and volumes of its subregions as well as their genetic correlations with relevant psychiatric traits.

Results: We identified 70 independent loci with distributed effects across the five subregions of the CC (p < 5 × 10-8). Additionally, we identified 33 significant loci in the anterior subregion, 23 in the mid-anterior, 29 in the central, 7 in the mid-posterior and 56 in the posterior subregion. Gene-set analysis revealed 156 significant genes contributing to volume of the CC subregions (p < 2.6 × 10-6). LDSC estimated the heritability of CC to (h2SNP = 0.38, SE = 0.03) and subregions ranging from 0.22 (SE = 0.02) to 0.37 (SE = 0.03). We found significant genetic correlations of total CC volume with bipolar disorder (BD, rg = -0.09, SE = 0.03; p = 5.9 × 10-3) and drinks consumed per week (rg = -0.09, SE = 0.02; p = 4.8 × 10-4), and volume of the mid-anterior subregion with BD (rg = -0.12, SE = 0.02; p = 2.5 × 10-4), major depressive disorder (MDD) (rg = -0.12, SE = 0.04; p = 3.6 × 10-3), drinks consumed per week (rg = -0.13, SE = 0.04; p = 1.8 × 10-3) and cannabis use (rg = -0.09, SE = 0.03; p = 8.4 × 10-3).

Conclusions: Our results demonstrate that the CC has a polygenic architecture implicating multiple genes and show that CC subregion volumes are heritable. We found that distinct genetic factors are involved in the development of anterior and posterior subregions, consistent with their divergent functional specialisation. Significant genetic correlation between volumes of the CC and BD, drinks per week, MDD and cannabis consumption subregion v

背景:胼胝体(CC)是一种具有高遗传性的大脑结构,在精神疾病中具有潜在作用。然而,CC的遗传结构以及与精神疾病的遗传联系在很大程度上仍不清楚。我们研究了CC及其亚区体积的遗传结构,以及与精神疾病的遗传重叠。方法:我们将多变量全基因组关联研究(GWAS)应用于英国生物库40894名个体的遗传和T1加权磁共振成像(MRI)数据,旨在促进基因发现,并评估FreeSurfer 7.1获得的CC五个亚区(后部、中后部、中央、中前部和前部)体积的多效性效应。多变量GWAS结合所有子区域运行,相关变量共同变化。使用MAGMA进行基因集富集分析。采用连锁不平衡评分回归法(LDSC)测定了基于单核苷酸多态性(SNP)的CC总体积及其亚区体积的遗传力及其与相关精神特征的遗传相关性。结果:我们鉴定了70个独立的基因座,这些基因座在CC的五个亚区具有分布效应(p<5×10-8)。此外,我们在前部亚区确定了33个重要位点,23个在前部中部,29个在中部,7个在后部,56个在后部亚区。基因集分析显示156个显著基因对CC亚区的体积有贡献(p<2.6×10-6)。LDSC估计CC的遗传力为(h2SNP=0.38,SE=0.03),亚区范围为0.22(SE=0.02)至0.37(SE=0.03),BD的中前部亚区体积(rg=0.12,SE=0.02;p=2.5×10-4)、重度抑郁障碍(MDD)(rg=0.12中,SE=0.04;p=3.6×10-3),每周饮酒量(rg=0.13,SE=0.04;p=1.8×10-3)和大麻使用量(rg=0.09,SE=0.03;p=8.4×10-3。我们发现,不同的遗传因素参与了前部和后部亚区的发育,这与它们不同的功能专长一致。CC和BD量、每周饮酒量、MDD和大麻消费亚区域量与精神特征之间存在显著的遗传相关性,值得进一步研究。
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引用次数: 0
期刊
Acta Neuropsychiatrica
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