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Construction of a Diagnostic Model and a lncRNA-Associated ceRNA Network Based on Apoptosis-Related Genes for Schizophrenia. 基于凋亡相关基因的精神分裂症诊断模型及lncrna相关ceRNA网络构建
IF 2.8 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2023-01-01 DOI: 10.1155/2023/7017106
Zi-Long Ma, Run-Lan Wang, Lili Meng

Methods: Gene expression profiles and apoptosis-related data were downloaded from the Gene Expression Omnibus and Molecular Signature databases, respectively. Apoptosis-related differentially expressed mRNAs (DEGs) and miRNAs (DEMs) from blood samples between the schizophrenia and healthy control individuals were screened. A diagnostic model was developed using the data from univariate and least absolute shrinkage and selection operator (LASSO) regression analyses, followed by validation using the GSE38485 dataset. Cases were divided into low-risk (LR) and high-risk (HR) groups based on the risk score of the model, and differences in immune gene sets and pathways between these two groups were compared. Finally, a ceRNA network was constructed by integrating long non-coding RNAs (lncRNAs), DEMs, and DEGs.

Results: A diagnostic model containing 15 apoptosis-related genes was developed and its diagnostic efficiency was found to be robust. The HR group was correlated with higher immune scores of chemokines, cytokines, and interleukins; it was also significantly involved in pathways such as pancreatic beta cells and early estrogen response. A ceRNA network composed of 2 lncRNAs, 14 miRNAs, and 5 mRNAs was established.

Conclusions: The established model is a potential tool to improve the diagnostic efficiency of patients with schizophrenia, and the nodes included in the ceRNA network might serve as biomarkers and therapeutic targets for schizophrenia.

方法:分别从Gene expression Omnibus和Molecular Signature数据库下载基因表达谱和细胞凋亡相关数据。从精神分裂症患者和健康对照者的血液样本中筛选与细胞凋亡相关的差异表达mrna (DEGs)和miRNAs (dem)。使用单变量和最小绝对收缩和选择算子(LASSO)回归分析的数据建立诊断模型,然后使用GSE38485数据集进行验证。根据模型的风险评分将病例分为低危组(LR)和高危组(HR),比较两组免疫基因集和通路的差异。最后,通过整合长链非编码rna (lncrna)、dem和deg构建了ceRNA网络。结果:建立了包含15个凋亡相关基因的诊断模型,诊断效果良好。HR组与趋化因子、细胞因子和白细胞介素免疫评分较高相关;它还显著参与胰腺β细胞和早期雌激素反应等途径。建立了由2个lncrna、14个mirna和5个mrna组成的ceRNA网络。结论:所建立的模型是提高精神分裂症患者诊断效率的潜在工具,ceRNA网络中包含的节点可能作为精神分裂症的生物标志物和治疗靶点。
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引用次数: 0
Attenuation of Strychnine-Induced Epilepsy Employing Amaranthus viridis L. Leaves Extract in Experimental Rats. 苋菜叶提取物对士的宁致痫的抑制作用。
IF 2.8 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2023-01-01 DOI: 10.1155/2023/6684781
Aashish Bharadwaj, Ashwani Sharma, Talever Singh, Devender Pathak, Tarun Virmani, Girish Kumar, Anjali Sharma, Abdulsalam Alhalmi

Objective: Epilepsy is one of the most prevalent neurological illnesses defined by periodic seizures with or without loss of consciousness caused by aberrant neural activity. There are many allopathic medications available for the treatment of epilepsy such as phenytoin (PHY), but the side effects are a major concern. Therefore, the present study involved the evaluation of the pharmacological significance of Amaranthus viridis L. extract (EAV) in the management of strychnine (STR)-induced epilepsy.

Method: STR (3.5 mg/kg, i.p.) was injected into male rats 30 minutes after the pre-treatment of a standard drug (PHY: 20 mg/kg) and the two doses of EAV (EAV-200 and EAV-400 mg/kg, p.o.) to the respective groups to cause the convulsions. The anti-convulsant effect of EAV-200 and EAV-400 against STR-induced convulsion in rats was investigated in terms of convulsion onset, duration of convulsions, number of convulsions, and convulsion score. Furthermore, the mitochondrial function and integrity in the brain's prefrontal cortex (PFC) were also estimated.

Results: EAV-400 significantly increased the onset of convulsion from 61.67 ± 3.051 to 119.2 ± 2.738 and reduced the STR-induced duration of convulsions from 144.8 ± 3.582 to 69.17 ± 3.736, number of convulsions from 4.000 ± 0.1592 to 1.533 ± 0.1542, and convulsion score from 5.000 ± 0.3651 to 2.833 ± 0.3073 in rats. EAV-400 significantly attenuated the STR-induced decrease in the mitochondrial function and integrity of the rat PFC. In rats, EAV-400 significantly accelerated the onset of convulsions while decreasing the STR-induced duration, frequency, and score.

Conclusion: Based on investigational findings, EAV-400 could be inferred to be a possible anti-epileptic option for the treatment of epilepsy of this plan in preclinical research.

目的:癫痫是最常见的神经系统疾病之一,由异常神经活动引起的伴有或不伴有意识丧失的周期性发作。有许多对抗疗法药物可用于治疗癫痫,如苯妥英(PHY),但其副作用是一个主要问题。因此,本研究探讨了苋菜提取物(EAV)治疗士的宁(STR)诱发癫痫的药理意义。方法:在标准药物(PHY: 20 mg/kg)和EAV (EAV-200和EAV-400 mg/kg,口服)预处理后30 min,分别给雄性大鼠注射STR (3.5 mg/kg, ig),引起各组大鼠惊厥。从惊厥发作、惊厥持续时间、惊厥次数、惊厥评分等方面观察EAV-200和EAV-400对str致惊厥大鼠的抗惊厥作用。此外,还估计了大脑前额叶皮层(PFC)的线粒体功能和完整性。结果:EAV-400可使大鼠惊厥发作次数由61.67±3.051次显著增加至119.2±2.738次,惊厥持续时间由144.8±3.582次显著减少至69.17±3.736次,惊厥次数由4.000±0.1592次显著减少至1.533±0.1542次,惊厥评分由5.000±0.3651次显著减少至2.833±0.3073次。EAV-400显著减轻了str诱导的大鼠pfc线粒体功能和完整性的下降。在大鼠中,EAV-400显著加速了惊厥的发生,同时减少了str诱导的持续时间、频率和评分。结论:根据研究结果,EAV-400在临床前研究中可能是该方案治疗癫痫的抗癫痫选择。
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引用次数: 1
Retracted: The Impact of Online Learning System on Students Affected with Stroke Disease. 撤下:在线学习系统对中风学生的影响。
IF 2.8 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2023-01-01 DOI: 10.1155/2023/9802476
Behavioural Neurology

[This retracts the article DOI: 10.1155/2022/4847066.].

[本文撤回文章DOI: 10.1155/2022/4847066.]。
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引用次数: 0
The Orthographic Ambiguity of the Arabic Graphic System: Evidence from a Case of Central Agraphia Affecting the Two Routes of Spelling. 阿拉伯文文字系统的正字法歧义:来自影响两种拼写路线的中心失写症的证据。
IF 2.8 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2022-11-16 eCollection Date: 2022-01-01 DOI: 10.1155/2022/8078607
Assia Boumaraf, Sonia Bekal, Joël Macoir

The Arabic writing system includes ambiguities that create difficulties in spelling. These ambiguities relate mainly to the long vowels, some phoneme-grapheme conversions, lexical particularities, and the connectivity of letters. In this article, the first to specifically explore acquired spelling impairments in an Arabic-speaking individual, we report the case of CHS, who presented with agraphia following a stroke. Initial testing indicated substantial impairment of CHS's spelling abilities in the form of mixed agraphia. The experimental study was specifically designed to explore the influence of the orthographic ambiguity of the Arabic graphemic system on CHS's spelling performance. The results revealed that CHS had substantial difficulties with orthographic ambiguity and tended to omit ambiguous graphemes. Some of the errors she produced suggested reliance on the sublexical route of spelling, while others rather reflected the adoption of the lexical-semantic route. These findings from a case involving a non-Western, non-Indo-European language contribute to discussions of theoretical models of spelling. They show that CHS's pattern of impairment is consistent with the summation hypothesis, according to which the lexical-semantic and the sublexical routes interactively contribute to spelling.

阿拉伯语的书写系统包含了歧义,这给拼写带来了困难。这些歧义主要与长元音、一些音素转换、词汇的特殊性和字母的连通性有关。在这篇文章中,我们首次专门探讨了阿拉伯语个体的获得性拼写障碍,我们报告了一个CHS的病例,他在中风后表现为失写症。最初的测试表明,CHS的拼写能力严重受损,表现为混合性失写症。本实验旨在探讨阿拉伯语字母系统的正字法歧义对幼儿拼写表现的影响。结果显示,CHS在正字法歧义上有很大的困难,并且倾向于省略歧义字素。她产生的一些错误表明了对亚词汇拼写路线的依赖,而另一些则反映了对词汇-语义路线的采用。这些发现来自一个涉及非西方、非印欧语言的案例,有助于讨论拼写的理论模型。结果表明,CHS的拼写障碍模式符合词汇-语义和亚词汇路径相互作用的求和假设。
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引用次数: 0
Postpandemic Stress Disorder among Health Care Personnel: A Cross-Sectional Study (Silesia, Poland). 卫生保健人员的大流行后应激障碍:一项横断面研究(西里西亚,波兰)。
IF 2.8 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2022-11-14 eCollection Date: 2022-01-01 DOI: 10.1155/2022/1816537
Mateusz Grajek, Patryk Szlacheta, Karolina Sobczyk, Karolina Krupa-Kotara, Beata Łabuz-Roszak, Ilona Korzonek-Szlacheta

Background: Postpandemic stress disorder (PPSD) is an unofficial term that refers to posttraumatic stress disorder (PTSD), a mental disorder resulting from increased stress, anxiety, and trauma associated with unpleasant life experiences. Many scientific studies indicate that symptoms of increased stress, job burnout, anxiety, and depressive disorders are associated with medical personnel performing their professional duties around COVID-19 patients.

Objective: The purpose of this study was to assess the prevalence of symptoms that may indicate the presence of PPSD symptoms-depression, anxiety, and stress-in medical personnel. Material and Methods. The survey included 300 people, representatives of medical personnel. The group was divided into two sections. The first section numbered 150 and consisted of personnel in direct contact with COVID-19 patients (FR); the second group also consisted of 150 medical professionals, who but no longer directly involved in helping with COVID-19 cases (SR). The survey was conducted by indirect survey method using CAWI (computer-assisted web interview). The survey used a questionnaire technique. A proprietary tool enriched with standardized psychometric scales: BDI, GAD-7, FCV-19S, and PSS-10 was used. Kruskal-Wallis and Mann-Whitney U statistical tests were used in the statistical processing of the data. The probability level was 0.05.

Results: Statistical inference made it clear that mental health problems that may indicate trauma are mainly present in the FR group. These symptoms decreased slightly in comparison between periods 2020 and 2021 (p < 0.05).

Conclusions: The COVID-19 pandemic significantly increased the prevalence of depression, anxiety, and stress among first responders. To ensure the psychological well-being of first responders, early assessment and care of mild depression, anxiety, and stress should be promoted to prevent the development of moderate and severe forms.

背景:大流行后应激障碍(PPSD)是一个非官方术语,指的是创伤后应激障碍(PTSD),一种由不愉快的生活经历引起的压力、焦虑和创伤增加而导致的精神障碍。许多科学研究表明,压力增加、工作倦怠、焦虑和抑郁症的症状与医务人员在COVID-19患者周围履行专业职责有关。目的:本研究的目的是评估医务人员中可能表明PPSD症状-抑郁,焦虑和压力-存在的症状的患病率。材料和方法。调查对象包括300名医务人员代表。这群人被分成两部分。第一个组有150人,由与COVID-19患者直接接触的人员组成(FR);第二组还包括150名医疗专业人员,他们不再直接参与帮助处理COVID-19病例(SR)。本研究采用计算机辅助网络访谈法(CAWI)进行间接调查。这项调查采用了问卷调查的方法。采用专有工具,丰富了标准化的心理测量量表:BDI, GAD-7, FCV-19S和PSS-10。数据的统计处理采用Kruskal-Wallis和Mann-Whitney U统计检验。概率水平为0.05。结果:统计推断表明,可能表明创伤的心理健康问题主要存在于FR组。与2020年和2021年相比,这些症状略有下降(p < 0.05)。结论:COVID-19大流行显著增加了急救人员抑郁、焦虑和压力的患病率。为了确保急救人员的心理健康,应促进对轻度抑郁、焦虑和压力的早期评估和护理,以防止发展为中度和重度形式。
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引用次数: 1
Clinical Features and Risk Factors of Mortality in Patients with Posterior Reversible Encephalopathy Syndrome. 后部可逆性脑病综合征患者的临床特征及死亡危险因素。
IF 2.8 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2022-11-14 eCollection Date: 2022-01-01 DOI: 10.1155/2022/9401661
Hong-Wei Cui, Ru-Yi Lei, Bo-Ai Zhang

Objective: Although the prognosis of posterior reversible encephalopathy syndrome (PRES) is usually favourable and most patients wholly recover, the disorder can result in death in some patients. To date, the data on clinical features and risk factors for death are still lacking; therefore, we aim to investigate the clinical features and long-term prognostic risk factors of PRES in the present study.

Methods: The patients with PRES were identified from the First Affiliated Hospital of Zhengzhou University from June 2011 to June 2020. Clinical characteristics, laboratory tests, magnetic resonance imaging examinations, and treatment of all patients were analyzed retrospectively. All patients were followed up by telephone. Finally, the patients were divided into the survival group and death group for prognosis analysis.

Results: A total of 92 patients with PRES were included; 84.8% of whom were female, with an average age of 25.4 (5-66) years at the onset of PRES. Epilepsy was the main clinical manifestation (72.8%). The in-hospital mortality rate was 2.17%. The 3-year all-cause survival rate for PRES patients was 86%. In univariate analysis, patients with systemic lupus erythematosus (P = 0.027) and blood transfusion history within 1 month before onset (P = 0.027), need for dialysis (P ≤ 0.001), nephritis (P = 0.010), stroke (P = 0.016), and heart failure (P = 0.016) were associated with death. In multivariate analysis, we found that heart failure (OR = 0.095, 95% CI 0.020 to 0.441) and stroke (OR = 0.033, 95% CI 0.002 to 0.467) were independent risk factors for death in PRES patients, while pregnancy was a protective factor for death in PRES patients (OR = 7.978, 95% CI 1.446 to 44.006).

Conclusions: Our results indicate that PRES could be considered as a sign of a very high-risk patient. We also demonstrated that heart failure and stroke were independent risk factors for death in patients with PRES; moreover, pregnancy was a protective factor.

目的:虽然后可逆性脑病综合征(PRES)的预后通常良好,大多数患者完全康复,但该疾病可导致部分患者死亡。迄今为止,关于临床特征和死亡危险因素的数据仍然缺乏;因此,我们在本研究中旨在探讨PRES的临床特征和长期预后危险因素。方法:选取2011年6月至2020年6月郑州大学第一附属医院的PRES患者。回顾性分析所有患者的临床特点、实验室检查、磁共振成像检查和治疗方法。所有患者均通过电话随访。最后将患者分为生存组和死亡组进行预后分析。结果:共纳入92例PRES患者;其中女性占84.8%,发病年龄平均25.4(5 ~ 66)岁,以癫痫为主要临床表现(72.8%)。住院死亡率为2.17%。PRES患者的3年全因生存率为86%。在单因素分析中,有系统性红斑狼疮(P = 0.027)、发病前1个月内有输血史(P = 0.027)、需要透析(P≤0.001)、肾炎(P = 0.010)、中风(P = 0.016)和心力衰竭(P = 0.016)的患者与死亡相关。在多因素分析中,我们发现心力衰竭(OR = 0.095, 95% CI 0.020 ~ 0.441)和中风(OR = 0.033, 95% CI 0.002 ~ 0.467)是PRES患者死亡的独立危险因素,而妊娠是PRES患者死亡的保护因素(OR = 7.978, 95% CI 1.446 ~ 44.006)。结论:我们的结果表明,PRES可以被认为是高危患者的标志。我们还证明心力衰竭和中风是PRES患者死亡的独立危险因素;此外,怀孕是一个保护因素。
{"title":"Clinical Features and Risk Factors of Mortality in Patients with Posterior Reversible Encephalopathy Syndrome.","authors":"Hong-Wei Cui,&nbsp;Ru-Yi Lei,&nbsp;Bo-Ai Zhang","doi":"10.1155/2022/9401661","DOIUrl":"https://doi.org/10.1155/2022/9401661","url":null,"abstract":"<p><strong>Objective: </strong>Although the prognosis of posterior reversible encephalopathy syndrome (PRES) is usually favourable and most patients wholly recover, the disorder can result in death in some patients. To date, the data on clinical features and risk factors for death are still lacking; therefore, we aim to investigate the clinical features and long-term prognostic risk factors of PRES in the present study.</p><p><strong>Methods: </strong>The patients with PRES were identified from the First Affiliated Hospital of Zhengzhou University from June 2011 to June 2020. Clinical characteristics, laboratory tests, magnetic resonance imaging examinations, and treatment of all patients were analyzed retrospectively. All patients were followed up by telephone. Finally, the patients were divided into the survival group and death group for prognosis analysis.</p><p><strong>Results: </strong>A total of 92 patients with PRES were included; 84.8% of whom were female, with an average age of 25.4 (5-66) years at the onset of PRES. Epilepsy was the main clinical manifestation (72.8%). The in-hospital mortality rate was 2.17%. The 3-year all-cause survival rate for PRES patients was 86%. In univariate analysis, patients with systemic lupus erythematosus (<i>P</i> = 0.027) and blood transfusion history within 1 month before onset (<i>P</i> = 0.027), need for dialysis (<i>P</i> ≤ 0.001), nephritis (<i>P</i> = 0.010), stroke (<i>P</i> = 0.016), and heart failure (<i>P</i> = 0.016) were associated with death. In multivariate analysis, we found that heart failure (OR = 0.095, 95% CI 0.020 to 0.441) and stroke (OR = 0.033, 95% CI 0.002 to 0.467) were independent risk factors for death in PRES patients, while pregnancy was a protective factor for death in PRES patients (OR = 7.978, 95% CI 1.446 to 44.006).</p><p><strong>Conclusions: </strong>Our results indicate that PRES could be considered as a sign of a very high-risk patient. We also demonstrated that heart failure and stroke were independent risk factors for death in patients with PRES; moreover, pregnancy was a protective factor.</p>","PeriodicalId":50733,"journal":{"name":"Behavioural Neurology","volume":" ","pages":"9401661"},"PeriodicalIF":2.8,"publicationDate":"2022-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9678458/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40491301","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: 1
Association between Twenty-Four-Hour Ambulatory Blood Pressure Variability and Cerebral Small Vessel Disease Burden in Acute Ischemic Stroke. 急性缺血性卒中患者24小时动态血压变异性与脑血管疾病负担的关系
IF 2.8 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2022-10-18 eCollection Date: 2022-01-01 DOI: 10.1155/2022/3769577
Jun Shen, Lu Yang, Ziwei Xu, Wenshi Wei

Objective: This study is aimed at investigating the association between the twenty-four-hour ambulatory blood pressure variability monitoring (ABPM) and cerebral small vessel disease (cSVD) burden in acute ischemic stroke (AIS) patients.

Methods: 115 AIS patients with demographics, vascular risk factors, 24 h ABPM, and brain magnetic resonance imaging (MRI) were retrospectively enrolled. 3.0 T MRI was used to assess cSVD burden by combining four MRI markers including white matter hyperintensities (WMHs), cerebral microbleeds (CMBs), perivascular spaces (PVS), and lacunes. Correlation analysis was conducted to detect whether ABPM was associated with cSVD burden in AIS patients.

Results: 115 AIS patients with mean age 68.77 ± 10.26 years and 75.7% male were enrolled in this study. 112 AIS patients (97.4%) had at least one cSVD marker. Spearman correlation analysis indicated that hypertension was positively correlated with cSVD burden (ρ = 0.21, P = 0.07). High-density lipoprotein (HDL) was negatively correlated with cSVD burden (ρ = -0.21, P = 0.02). Blood pressure variability such as 24 h mean SBP (ρ = 0.23, P = 0.01), day mean SBP (ρ = 0.23, P = 0.01), and night mean SBP (ρ = 0.20, P = 0.04) was positively correlated with higher cSVD burden. Ordinal logistic regression analysis demonstrated that higher 24 h SBP SD and day mean SBP were independent risk factors for cSVD after controlling for other confounders.

Conclusions: Higher BPV was significantly related to total cSVD burden in AIS patients. 24 h SBP SD and day mean SBP were independent risk factors for cSVD burden in AIS patients but not DBP or DBP variability.

目的:探讨急性缺血性脑卒中(AIS)患者24小时动态血压变异性监测(ABPM)与脑血管病(cSVD)负担的关系。方法:回顾性分析115例AIS患者的人口统计学特征、血管危险因素、24 h ABPM和脑磁共振成像(MRI)。3.0 T MRI通过结合白质高信号(WMHs)、脑微出血(CMBs)、血管周围间隙(PVS)和腔隙(lacunes)四种MRI标记来评估cSVD负担。通过相关分析检测ABPM是否与AIS患者的cSVD负担相关。结果:115例AIS患者入组,平均年龄68.77±10.26岁,男性75.7%。112例AIS患者(97.4%)至少有一种cSVD标志物。Spearman相关分析显示高血压与cSVD负担呈正相关(ρ = 0.21, P = 0.07)。高密度脂蛋白(HDL)与cSVD负荷呈负相关(ρ = -0.21, P = 0.02)。血压变异性如24 h平均收缩压(ρ = 0.23, P = 0.01)、白天平均收缩压(ρ = 0.23, P = 0.01)和夜间平均收缩压(ρ = 0.20, P = 0.04)与较高的cSVD负担呈正相关。有序逻辑回归分析表明,在控制其他混杂因素后,较高的24小时收缩压SD和日平均收缩压是cSVD的独立危险因素。结论:高BPV与AIS患者总cSVD负担显著相关。24 h收缩压、SD和日均收缩压是AIS患者心血管疾病负担的独立危险因素,而不是舒张压或舒张压变异性。
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引用次数: 0
Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic Review. 芳香l -氨基酸脱羧酶(AADC)缺乏的临床特征:系统综述。
IF 2.7 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2022-10-11 eCollection Date: 2022-01-01 DOI: 10.1155/2022/2210555
Susanna Rizzi, Carlotta Spagnoli, Daniele Frattini, Francesco Pisani, Carlo Fusco

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare congenital autosomal recessive metabolic disorder caused by pathogenic homozygous or compound heterozygous variants in the dopa decarboxylase (DDC) gene. Adeno-associated viral vector-mediated gene transfer of the human AADC gene into the putamina has become available. This systematic review on PubMed, Scopus databases, and other sources is aimed at describing the AADC whole phenotypic spectrum in order to facilitate its early diagnosis. Literature reviews, original articles, retrospective and comparative studies, large case series, case reports, and short communications were considered. A database was set up using Microsoft Excel to collect clinical, molecular, biochemical, and therapeutic data. By analysing 261 patients from 41 papers with molecular and/or biochemical diagnosis of AADC deficiency for which individuality could be determined with certainty, we found symptom onset to occur in the first 6 months of life in 93% of cases. Hypotonia and developmental delay are cardinal signs, reported as present in 73.9% and 72% of cases, respectively. Oculogyric crises were seen in 67% of patients while hypokinesia in 42% and ptosis in 26%. Dysautonomic features have been revealed in 53% and gastrointestinal symptoms in 19% of cases. With 37% and 30% of patients reported being affected by sleep and behavioural disorders, it seems to be commoner than previously acknowledged. Although reporting bias cannot be excluded, there is still a need for comprehensive clinical descriptions of symptoms at onset and during follow-up. In fact, our review suggests that most of the neurological and extraneurological symptoms and signs reported, although quite frequent in this condition, are not pathognomonic, and therefore, ADCC deficiency can remain an underdiscovered disorder.

芳香l -氨基酸脱羧酶(AADC)缺乏症是一种罕见的先天性常染色体隐性代谢疾病,由多巴脱羧酶(DDC)基因的致病性纯合或复合杂合变异引起。腺相关病毒载体介导的人类AADC基因进入壳层的基因转移已经成为可能。本文对PubMed、Scopus等数据库进行系统综述,旨在描述AADC的整个表型谱,以促进其早期诊断。文献综述、原创文章、回顾性和比较研究、大型病例系列、病例报告和简短通讯均被考虑在内。使用Microsoft Excel建立数据库,收集临床、分子、生化和治疗数据。通过分析41篇论文中的261例AADC缺乏分子和/或生化诊断的患者,我们发现93%的病例在出生后的前6个月出现症状。张力不足和发育迟缓是主要的症状,分别在73.9%和72%的病例中出现。67%的患者出现眼部危像,42%的患者出现运动障碍,26%的患者出现上睑下垂。53%的病例有自主神经异常特征,19%的病例有胃肠道症状。37%和30%的患者报告受到睡眠和行为障碍的影响,这似乎比以前认为的要普遍。虽然不能排除报告偏倚,但仍需要对发病和随访期间的症状进行全面的临床描述。事实上,我们的回顾表明,尽管在这种情况下很常见,但大多数报告的神经和神经外症状和体征都不是病理性的,因此,ADCC缺乏症可能仍然是一种未被发现的疾病。
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引用次数: 0
On the Relationship between Speech Intelligibility and Fluency Indicators among English-Speaking Individuals with Parkinson's Diseases. 以英语为母语的帕金森病患者言语清晰度与流利度指标的关系
IF 2.8 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2022-10-03 eCollection Date: 2022-01-01 DOI: 10.1155/2022/1224680
Chin-Ting Liu, Shiao-Wei Chu, Yuan-Shan Chen

The purpose of the study is to investigate how much of variance in Parkinson's Disease (PD) individuals' speech intelligibility could be predicted by seven speech fluency indicators (i.e., repetition, omission, distortion, correction, unfilled pauses, filled pauses, and speaking rate). Speech data were retrieved from a database containing a reading task produced by a group of 16 English-speaking individuals with PD (Jaeger, Trivedi & Stadtchnitzer, 2019). The results from a multiple regression indicated that an addition of 54% of variance in the speech intelligibility scores among individuals with PD could be accounted for after the speakers' PD severity level measured based on Hoehn and Yahr's (1967) disease stage was included as a covariate. In addition, omission and correction were the two fluency indicators that contributed to the general intelligibility score in a statistically significant way. Specifically, for every one-unit gain in the number of correction and omission, speech intelligibility scores would decline by 0.687 and 0.131 point (out of a 7-point scale), respectively. The current study hence supported Magee, Copland, and Vogel's (2019) view that the language production abilities and quantified dysarthria measures among individuals with PD should be explored together. Additionally, the clinical implications based on the current findings were discussed.

本研究旨在探讨通过重复、遗漏、失真、纠正、未填充停顿、填充停顿和说话率等7个言语流畅性指标,预测帕金森病(PD)个体言语可理解性的变异程度。语音数据从包含阅读任务的数据库中检索,该阅读任务由16名说英语的PD患者组成(Jaeger, Trivedi & Stadtchnitzer, 2019)。多元回归结果表明,将基于Hoehn and Yahr(1967)疾病分期测量的说话者PD严重程度作为协变量,PD个体的言语清晰度得分增加了54%的方差。此外,省略和更正是两个流畅性指标,对一般可理解性得分有显著的统计意义。具体来说,每增加一个单位的纠正和遗漏,语音可理解性分数将分别下降0.687和0.131分(满分为7分)。因此,目前的研究支持了Magee, Copland和Vogel(2019)的观点,即PD患者的语言产生能力和量化构音障碍测量应该一起探讨。此外,本文还讨论了基于当前研究结果的临床意义。
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引用次数: 1
Exercise on Striatal Dopamine Level and Anxiety-Like Behavior in Male Rats after 2-VO Cerebral Ischemia. 运动对雄性大鼠2-VO脑缺血后纹状体多巴胺水平和焦虑样行为的影响。
IF 2.8 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2022-09-13 eCollection Date: 2022-01-01 DOI: 10.1155/2022/2243717
Yongzhao Fan, Xiaoyang Kong, Kun Liu, Hao Wu

The purpose of this study was to discuss the effect of voluntary wheel running on striatal dopamine levels and anxiety-like behavior in rats with global cerebral ischemia. The male Sprague-Dawley rats were signed on in this study and randomly divided into following 4 groups: Control group (C group), Sham group (S group), ischemia group (I group), and 3 weeks physical exercise before ischemia group (3RI group). The rats in the 3RI group were placed in a voluntary running wheel for three weeks to exercise. Then, the rats in I and 3RI groups received bilateral carotid artery ligation (2-VO) operation. The C and S group did not perform voluntary running exercise and the bilateral common carotid arteries of S group were exposed without ligation. In vivo microdialysis was used in conjunction with high performance liquid chromatography (HPLC) and electrochemical detection to ascertain the level of dopamine in the striatum. Elevated plus maze (EPM) and open field (OF) were used to test anxiety status at 24 hours and 7days after 2-VO cerebral ischemia. Meanwhile, gait and motor coordination evaluations were carried out to eliminate the influence of non-specific motor problems. The results indicated that cerebral ischemia instigate the increase of striatal dopamine in I group rats during acute cerebral ischemia. A 3-week voluntary wheel running significantly enhances the striatal dopamine before ischemia and obstructs a further increase of dopamine during acute cerebral ischemia in 3RI group rats. At 24 hours after ischemia, striatal dopamine returned to pre-ischemic levels in 3RI group. Striatal dopamine in I group were less than pre-ischemic levels at 7 days. Behavioral data indicated that 3-week voluntary wheel running promoted recovery of anxiety-like behavior and gait were not affected by 2-VO cerebral ischemia at 24 hours post-ischemia rats. Therefore, it can be concluded that 3-week physical exercise significantly increased the striatal dopamine and improved anxiety-like behavior by inhibiting the increase of dopamine during acute cerebral ischemia and suppressing the decrease of dopamine after 24 hours and 7 days cerebral ischemia.

本研究旨在探讨自主跑轮运动对全脑缺血大鼠纹状体多巴胺水平和焦虑样行为的影响。选取雄性sd大鼠,随机分为4组:对照组(C组)、假手术组(S组)、缺血组(I组)、缺血前3周运动组(3RI组)。3RI组的大鼠被放置在一个自愿的跑步轮中三周进行锻炼。I、3RI组大鼠行双侧颈动脉结扎术(2-VO)。C组和S组不进行自主跑步运动,S组双侧颈总动脉暴露,不结扎。采用体内微透析、高效液相色谱(HPLC)和电化学检测相结合的方法测定纹状体多巴胺水平。采用升高+迷宫法(EPM)和开放场法(OF)检测大鼠在2-VO脑缺血后24小时和7天的焦虑状态。同时,进行步态和运动协调评估,以消除非特异性运动问题的影响。结果表明,脑缺血引起I组大鼠急性脑缺血时纹状体多巴胺升高。3RI组大鼠缺血前纹状体多巴胺水平明显升高,且明显抑制急性脑缺血时纹状体多巴胺水平的进一步升高。缺血后24小时,3RI组纹状体多巴胺恢复到缺血前水平。1组纹状体多巴胺在第7天低于缺血前水平。行为学数据显示,2-VO脑缺血后24小时,3周的自主跑轮运动促进了焦虑样行为的恢复,步态不受影响。由此可见,3周的体育锻炼通过抑制急性脑缺血时多巴胺的增加,抑制脑缺血24小时和7天后多巴胺的减少,显著增加纹状体多巴胺,改善焦虑样行为。
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Behavioural Neurology
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