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Parkin and <i>LRRK2</i>/Dardarin Mutations in Early Onset Parkinson’s Disease in the Basque Country (Spain)
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作者 J. F. Martí Massó J. Ruiz-Martínez +5 位作者 C. Paisán-Ruiz A. Gorostidi A. Bergareche A. Lopez de Munain A. Alzualde J. Pérez-Tur 《Journal of Behavioral and Brain Science》 2015年第3期101-108,共8页
We have performed a complete screening of the Parkin gene (PRKN2) and looked for p.Gly2019Ser (G2019S) and p.Arg1441Gly (R1441G) LRRK2/dardarin gene mutations in twenty seven patients with Parkinson’s disease (PD) wi... We have performed a complete screening of the Parkin gene (PRKN2) and looked for p.Gly2019Ser (G2019S) and p.Arg1441Gly (R1441G) LRRK2/dardarin gene mutations in twenty seven patients with Parkinson’s disease (PD) with an age at onset younger than 50 years (EOPD), living in Gipuzkoa (Basque Country, Spain). Thirteen of them (48%) were PRKN2 mutation carriers. The c.255-256DelA mutation was the most frequent, followed by a deletion involving exons 3 and 4. A deletion involving exons 3 and 12 of the PRKN2 gene and R1441G LRRK2 mutation was found together in one PD patient. Four out of fourteen PRKN2 negative patients carried the p.G2019S mutation. Both PRKN2 mutation carriers and non-carriers presented frequently with family history (10 PRKN2 mutation carriers and 8 PRKN2 non-carriers);in fact, five patients without a known gene mutation had a first degree relative affected, suggesting another monogenic disease. PRKN2 carriers presented with a younger age at onset (36.7 vs. 41.7) and more benign disease progression. Indeed, those PD patients younger than forty who initially presented with unilateral tremor became shortly bilateral. Relatively, symmetric parkinsonism and slow disease progression carried more frequently PRKN2 mutations than patients with unilateral akinetic rigid parkinsonism and age at onset later than 40 years. As expected in a recessive disease, PRKN2 patients present more often with affected siblings and unaffected patients. The G2019S LRRK2 mutation, less prevalent than R1441G in our area, may be also a frequent cause of PD in EOPD (4 patients). 展开更多
关键词 PARKIN early onset parkinsonIsM parkinsons disease LRRK2 Dardarin
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Classification of Short Time Series in Early Parkinson’s Disease With Deep Learning of Fuzzy Recurrence Plots 被引量:9
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作者 Tuan D.Pham Karin Wardell +1 位作者 Anders Eklund Goran Salerud 《IEEE/CAA Journal of Automatica Sinica》 EI CSCD 2019年第6期1306-1317,共12页
There are many techniques using sensors and wearable devices for detecting and monitoring patients with Parkinson’s disease(PD).A recent development is the utilization of human interaction with computer keyboards for... There are many techniques using sensors and wearable devices for detecting and monitoring patients with Parkinson’s disease(PD).A recent development is the utilization of human interaction with computer keyboards for analyzing and identifying motor signs in the early stages of the disease.Current designs for classification of time series of computer-key hold durations recorded from healthy control and PD subjects require the time series of length to be considerably long.With an attempt to avoid discomfort to participants in performing long physical tasks for data recording,this paper introduces the use of fuzzy recurrence plots of very short time series as input data for the machine training and classification with long short-term memory(LSTM)neural networks.Being an original approach that is able to both significantly increase the feature dimensions and provides the property of deterministic dynamical systems of very short time series for information processing carried out by an LSTM layer architecture,fuzzy recurrence plots provide promising results and outperform the direct input of the time series for the classification of healthy control and early PD subjects. 展开更多
关键词 Deep learning early parkinsons disease(PD) fuzzy recurrence plots long short-term memory(LsTM) neural networks pattern classification short time series
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Bioinformatics Analysis Raises Candidate Genes in Blood for Early Screening of Parkinson's Disease 被引量:1
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作者 ZHANG Yi YAO Li +4 位作者 LIU Wei LI Wei TIAN Chan WANG Zhao Yang LIU Di 《Biomedical and Environmental Sciences》 SCIE CAS CSCD 2014年第6期462-465,共4页
Parkinson's disease (PD) is a typical degenerative disease, which is characterized by the most obvious symptoms of movement dysfunction, including shaking, rigidity, slowness of movement and difficulty in walking a... Parkinson's disease (PD) is a typical degenerative disease, which is characterized by the most obvious symptoms of movement dysfunction, including shaking, rigidity, slowness of movement and difficulty in walking and gait. This disease can not be clearly identified through laboratory tests at present, thus application of high-throughput technique in studying the expression profiles of PD helps to find the genetic markers for its early diagnosis. Studies on expression profiles of neurodegenerative diseases have revealed the novel genes and pathways involved in the progress of illness. In this study, the expression profiles of PD in blood were compared, showing that 181 differentially expressed genes (DEG) exhibit a similar expression trend both in patients and in normal controls. 展开更多
关键词 GENE Bioinformatics Analysis Raises Candidate Genes in Blood for early screening of parkinsons disease GFAP PD sLC BCAM
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Magnetic resonance imaging markers for early diagnosis of Parkinson's disease
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作者 Silvia Marino Rosella Ciurleo +6 位作者 Giuseppe Di Lorenzo Marina Barresi Simona De Salvo Sabrina Giacoppo Alessia Bramanti Pietro Lanzafame Placido Bramanti 《Neural Regeneration Research》 SCIE CAS CSCD 2012年第8期611-619,共9页
Parkinson's disease (PD) is a neurodegenerative disorder characterized by selective and progressive degeneration, as well as loss of dopaminergic neurons in the substantia nigra. In PD, approximately 60-70% of nigr... Parkinson's disease (PD) is a neurodegenerative disorder characterized by selective and progressive degeneration, as well as loss of dopaminergic neurons in the substantia nigra. In PD, approximately 60-70% of nigrostriatal neurons are degenerated and 80% of content of the striatal dopamine is reduced before the diagnosis can be established according to widely accepted clinical diagnostic criteria. This condition describes a stage of disease called "prodromal", where non-motor symptoms, such as olfactory dysfunction, constipation, rapid eye movement behaviour disorder, depression, precede motor sign of PD. Detection of prodromal phase of PD is becoming an important goal for determining the prognosis and choosing a suitable treatment strategy. In this review, we present some non-invasive instrumental approaches that could be useful to identify patients in the prodromal phase of PD or in an early clinical phase, when the first motor symptoms begin to be apparent. Conventional magnetic resonance imaging (MRI) and advanced MRI techniques, such as magnetic resonance spectroscopy imaging, diffusion-weighted and diffusion tensor imaging and functional MRI, are useful to differentiate early PD with initial motor symptoms from atypical parkinsonian disorders, thus, making easier early diagnosis. Functional MRI and diffusion tensor imaging techniques can show abnormalities in the olfactory system in prodromal PD. 展开更多
关键词 parkinsons disease early diagnosis conventional magnetic resonance imaging magnetic resonance spectroscopy diffusion-weighted imaging diffusion tensor imaging functional magnetic resonance imaging olfactory dysfunction
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Enhancing Parkinson’s Disease Diagnosis Accuracy Through Speech Signal Algorithm Modeling 被引量:1
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作者 Omar M.El-Habbak Abdelrahman M.Abdelalim +5 位作者 Nour H.Mohamed Habiba M.Abd-Elaty Mostafa A.Hammouda Yasmeen Y.Mohamed Mohanad A.Taifor Ali W.Mohamed 《Computers, Materials & Continua》 SCIE EI 2022年第2期2953-2969,共17页
Parkinson’s disease(PD),one of whose symptoms is dysphonia,is a prevalent neurodegenerative disease.The use of outdated diagnosis techniques,which yield inaccurate and unreliable results,continues to represent an obs... Parkinson’s disease(PD),one of whose symptoms is dysphonia,is a prevalent neurodegenerative disease.The use of outdated diagnosis techniques,which yield inaccurate and unreliable results,continues to represent an obstacle in early-stage detection and diagnosis for clinical professionals in the medical field.To solve this issue,the study proposes using machine learning and deep learning models to analyze processed speech signals of patients’voice recordings.Datasets of these processed speech signals were obtained and experimented on by random forest and logistic regression classifiers.Results were highly successful,with 90%accuracy produced by the random forest classifier and 81.5%by the logistic regression classifier.Furthermore,a deep neural network was implemented to investigate if such variation in method could add to the findings.It proved to be effective,as the neural network yielded an accuracy of nearly 92%.Such results suggest that it is possible to accurately diagnose early-stage PD through merely testing patients’voices.This research calls for a revolutionary diagnostic approach in decision support systems,and is the first step in a market-wide implementation of healthcare software dedicated to the aid of clinicians in early diagnosis of PD. 展开更多
关键词 early diagnosis logistic regression neural network parkinsons disease random forest speech signal processing algorithms
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Mitochondrial sensitive probe with aggregation-induced emission characteristics for early brain diagnosis of Parkinson’s disease
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作者 Liwen Huang Yutong Zhou +6 位作者 Di Jiao Jing Ren Yilin Qi Heping Wang Yang Shi Dan Ding Xue Xue 《Aggregate》 EI CAS 2024年第1期216-227,共12页
The early diagnosis of Parkinson’s disease(PD)provides opportunities for early intervention to slow the progression of neurological degeneration in patients,particularly as the aging population increases in our socie... The early diagnosis of Parkinson’s disease(PD)provides opportunities for early intervention to slow the progression of neurological degeneration in patients,particularly as the aging population increases in our society.Among a series of pathological features of PD,mitochondria abnormalities have been identified as central event that occurs at the early stage of PD.However,the method for detecting mitochondrial abnormalities-associated early PD has not been fully developed.We herein report a specifically mitochondrial targeting probe(named TPA-BT-SCP)that is able to characterize mitochondria abnormalities for early diagnosis of PD and monitor PD neurodegenerative progress.The probe is an aggregation-induced emission(AIE)probe with a strong positive charge,a 3D distorted molecular structure,and a separated HOMO-LUMO distribution,designed with unique molecular design guidelines.Our research demonstrated that TPA-BT-SCP could emit stable and strong fluorescence,and rapidly accumulate in mitochondria due to the negative charge.After intranasal administration of 1-methy-4-phenyl-1,2,3,6-tetrahydropyridine(MPTP)-induced PD mice,TPA-BT-SCP successfully bypassed the blood−brain barrier to light up the brain,allowing the grading of PD severity based on its high sensitivity.Taken together,this work develops a novel AIE probe that exhibits dramatically high sensitivity to mitochondrial changes and enables noninvasive diagnosis of early PD in the brain. 展开更多
关键词 aggregation-induced emission early diagnosis parkinsons disease
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探究早期帕金森病Thy 1-SNCA模型小鼠运动学习障碍的时间特征
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作者 付文欣 王铁 +4 位作者 杨汝宁 曲明芹 高歌 杨慧 贾军 《首都医科大学学报》 CAS 北大核心 2024年第5期881-890,共10页
目的本实验通过建立早期帕金森病(Parkinson s disease,PD)小鼠模型,以探究PD模型出现运动学习障碍的时间特征。方法选用6月龄Thy 1-SNC A转基因(transgenic,TG)小鼠作为早期PD模型,与同龄野生型(wild type,WT)小鼠进行对比分析。通过... 目的本实验通过建立早期帕金森病(Parkinson s disease,PD)小鼠模型,以探究PD模型出现运动学习障碍的时间特征。方法选用6月龄Thy 1-SNC A转基因(transgenic,TG)小鼠作为早期PD模型,与同龄野生型(wild type,WT)小鼠进行对比分析。通过旷场实验、爬杆实验和Y迷宫等行为学手段来评估小鼠的运动功能和空间工作记忆能力,并以经典的匀加速转棒实验作为运动学习的行为学范式,来评估其运动学习能力。结果6月龄的Thy 1-SNC A TG小鼠在运动功能和空间记忆能力方面并未显示出异常,却呈现出明显的运动学习障碍。结论在早期PD模型小鼠上存在着特定的运动学习障碍,可作为早期PD的一个重要诊断指标;同时匀加速转棒测试可作为检测PD运动学习障碍的一种重要的行为学手段。 展开更多
关键词 帕金森病 早期帕金森病模型 运动学习障碍 运动症状
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Increased Serum Cystatin C in Early Parkinson’s Disease with Objective Sleep Disturbances 被引量:17
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作者 Kang-Ping Xiong Yong-Ping Dai +5 位作者 Jing Chen Jin-Min Xu Yi Wang Ping Feng Shou-Jiang You Chun-Feng Liu 《Chinese Medical Journal》 SCIE CAS CSCD 2018年第8期907-911,共5页
Background:Sleep disturbance is one of the major non-motor symptoms which cause the disability of Parkinson’s disease (PD) patients. Cystatin C (CysC) is a more sensitive biomarker than serum creatinine or estim... Background:Sleep disturbance is one of the major non-motor symptoms which cause the disability of Parkinson’s disease (PD) patients. Cystatin C (CysC) is a more sensitive biomarker than serum creatinine or estimated glomerular filtration rate. Previous studies have reported altered CysC levels in neurodegenerative disorders and sleep disorders. This study aimed to explore the correlations of serum CysC levels and objective sleep disturbances in early PD.Methods:We recruited 106 early PD patients and 146 age- and sex-matched controls. All participants underwent clinical investigation and video-polysomnography. Sleep parameters and serum levels of CysC were measured. Then, we investigated the relationships between CysC and clinical variables and objective sleep disturbances in early PD patients.Results:The mean serum level of CysC was significantly higher in patients with early PD (1.03 ± 0.19 mg/L) compared to controls (0.96 ± 0.15 mg/L, P = 0.009). There were significantly positive correlations between serum CysC levels and age (r = 0.334, P 〈 0.001), gender (r = 0.264, P = 0.013), and creatinine levels (r = 0.302, P = 0.018) in early PD patients. Increased serum CysC levels in early PD patients were significantly associated with higher apnea and hypopnea index (AHI) (r = 0.231, P = 0.017), especially hypopnea index (r = 0.333, P 〈 0.001). In early PD patients, elevated serum CysC levels were positively correlated with oxygen desaturation index (r = 0.223, P = 0.021), percentage of time spent at oxygen saturation (SaO2) 〈90% (r = 0.644, P 〈 0.001), arousal with respiratory event during sleep (r = 0.247, P = 0.013). On the contrary, the elevated serum CysC levels were negatively correlated with mean and minimal SaO2 (r = ?0.323, ?0.315, both P = 0.001) in PD patients.Conclusions:The level of serum CysC was higher in early PD patients. PD patients with elevated serum CysC levels had more respiratory events and more severe oxygen desaturation. Therefore, the serum CysC levels may predict the severities of sleep-disordered breathing problems in early PD patients. 展开更多
关键词 Cystatin C early parkinson's disease Objective sleep Disturbance
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Can Biomarkers Help the Early Diagnosis of Parkinson's Disease? 被引量:2
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作者 Weidong Le Jie Dong +1 位作者 Song Li Amos D. Korczyn 《Neuroscience Bulletin》 SCIE CAS CSCD 2017年第5期535-542,共8页
Parkinson's disease (PD) is a complex neurode- generative disease with progressive loss of dopamine neurons. PD patients usually manifest a series of motor and non-motor symptoms. In order to provide better early d... Parkinson's disease (PD) is a complex neurode- generative disease with progressive loss of dopamine neurons. PD patients usually manifest a series of motor and non-motor symptoms. In order to provide better early diagnosis and subsequent disease-modifying therapies for PD patients, there is an urgent need to identify sensitive and specific biomarkers. Biomarkers can be divided into four categories: clinical, imaging, biochemical, and genetic. Ideal biomarkers not only improve our under- standing of PD pathogenesis and progression, but also provide benefits for early risk evaluation and clinical diagnosis of PD. Although many efforts have been made and several biomarkers have been extensively investigated, few if any have been found useful for early diagnosis. Here, we summarize recent developments in the discovered biomarkers of PD and discuss their merits and limitations for the early diagnosis of PD. 展开更多
关键词 parkinson's disease· Biomarker early diag-nosis - Molecular imaging Biochemical markers
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行为疗法联合普拉克索对早发型帕金森病合并抑郁症患者HAMD评分、Zung评分和UPDRS Ⅱ、Ⅲ评分的影响 被引量:21
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作者 李杨 谢宇宽 +1 位作者 邱华艳 王秀丽 《中国健康心理学杂志》 2018年第1期10-13,共4页
目的:探讨行为疗法联合普拉克索对早发型帕金森病合并抑郁症患者汉密尔顿抑郁量表(HAMD)评分、Zung评分和帕金森综合评分量表(UPDRS)Ⅱ、Ⅲ评分的影响。方法:选择2015年2月-2016年11月于我院就诊的早发型帕金森病合并抑郁症患者... 目的:探讨行为疗法联合普拉克索对早发型帕金森病合并抑郁症患者汉密尔顿抑郁量表(HAMD)评分、Zung评分和帕金森综合评分量表(UPDRS)Ⅱ、Ⅲ评分的影响。方法:选择2015年2月-2016年11月于我院就诊的早发型帕金森病合并抑郁症患者共94例,随机分为联合组和对照组,对照组给予普拉克索治疗,联合组在普拉克索的基础上联合行为疗法,对比两组患者治疗前后的HAMD评分、Zung评分和UPDRS Ⅱ、Ⅲ评分。结果:两组患者的Hoehn-Yahr评分和改良Webster评分比较差异无统计学意义,两组患者治疗前的HAMD和Zung评分比较差异无统计学意义,治疗1个月和治疗3个月联合组的HAMD和Zung评分显著低于对照组,差异具有统计学意义(t=-6.666,-12.615,-3.321,-5.319;P〈0.001),两组患者治疗前的UPDRS Ⅱ和UPDRS Ⅲ评分比较差异无统计学意义(t=-0.175,P=0.861;t=0.263,P=0.793),治疗1个月和治疗3个月联合组的UPDRS Ⅱ和UPDRS Ⅲ评分显著低于对照组,差异具有统计学意义(t=-9.718,-4.887,-3.188,-4.549;P〈0.001)。结论:行为疗法联合普拉克索能显著改善早发型帕金森病合并抑郁症患者的HAMD评分、Zung评分和UPDRS Ⅱ、Ⅲ评分,以促进其抑郁症状的改善和日常活动能力的提高。 展开更多
关键词 行为疗法 普拉克索 帕金森病 早发型 抑郁
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早期帕金森病患者胃排空障碍在胃肠超声造影中的表现 被引量:1
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作者 董晓梦 李斌 +3 位作者 陈连祥 宋晓文 王洪财 苏毅鹏 《广东医学》 CAS 2024年第4期510-515,共6页
目的研究早期帕金森病患者的非运动症状—胃排空障碍在胃肠超声造影中的表现。方法对32例门诊及住院的、诊断为早期帕金森病(HY分级Ⅰ~Ⅱ期)并存在胃排空障碍(包括恶心呕吐、早饱、餐后持续性上腹胀满等症状)的患者(PD组)和同期30例健... 目的研究早期帕金森病患者的非运动症状—胃排空障碍在胃肠超声造影中的表现。方法对32例门诊及住院的、诊断为早期帕金森病(HY分级Ⅰ~Ⅱ期)并存在胃排空障碍(包括恶心呕吐、早饱、餐后持续性上腹胀满等症状)的患者(PD组)和同期30例健康体检者(对照组)进行胃肠超声造影检查,记录并测量两组入组者在饮入胃肠造影剂后的不同时间点(0~120 min)的胃窦收缩幅度(ACA)、胃窦收缩频率(ACF)、胃动力指数(GMI)、胃排空率(GER)、胃排空时间(GET)、胃壁增厚率、胃蠕动波速度等胃动力参数。结果PD组患者在各时间点的ACA、ACF、GMI及GER值均低于对照组(P<0.01,P<0.05);胃窦排空时间大于对照组(P均<0.01);30 min时PD组胃壁增厚率及胃蠕动波速度均低于对照组(均P<0.01)。结论早期帕金森病患者的胃排空障碍可借助胃肠超声造影得到有效评估。 展开更多
关键词 早期帕金森病 胃排空障碍 胃肠超声造影
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早发型帕金森病家系相关基因的筛查和危险度分析
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作者 许茜 范丽华 +7 位作者 林昆明 吴方真 周美 倪慧心 刘海鑫 范自立 高正涛 林瑶 《海南医学院学报》 CAS 北大核心 2024年第12期888-896,共9页
目的:通过早发型帕金森病(early‑onset Parkinson’s disease,EOPD)遗传家系成员的高通量基因筛查,发现疾病相关突变位点并检测其在人群中对疾病的影响。方法:本研究对早发型PD遗传家系中19名成员进行单核苷酸多态性芯片检测和全外显子... 目的:通过早发型帕金森病(early‑onset Parkinson’s disease,EOPD)遗传家系成员的高通量基因筛查,发现疾病相关突变位点并检测其在人群中对疾病的影响。方法:本研究对早发型PD遗传家系中19名成员进行单核苷酸多态性芯片检测和全外显子基因分型,并通过对家系外散发人群58人进行测序验证,筛选具有较高风险的突变位点。结果:芯片连锁分析发现3个染色体区段、全外显子测序和共表达分析筛选出24个可能与疾病关联的基因。其中5个位点基因型与患病结局之间的Spearman相关系数r>0.6且P<0.05,表示具有关联。通过家系外散发患者测序验证,Ddx56基因(OR=10.923)和Aspn基因(OR=8.198)的突变对患病结局产生显著影响(P<0.05)。结论:本研究通过临床患者进行多层次突变位点筛查分析,发现外显子区域的5个突变基因Pdxdc1、Ddx56、Aspn、Rbm28和Shisa9可能与帕金森病密切相关。 展开更多
关键词 早发型帕金森病 全外显子测序 连锁分析
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PRKN基因合并APOB基因突变的早发型帕金森病1例
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作者 邴诗佳 易霞 唐湘祁 《中南大学学报(医学版)》 CAS CSCD 北大核心 2024年第4期637-642,共6页
帕金森病的发病率位居神经系统退行性疾病的第二,仅次于阿尔茨海默病。早发型帕金森病(early-onset Parkinson’s disease,EOPD)指50岁前出现首发症状的帕金森病。EOPD与基因突变有一定的关系,并有独特的临床特征。本文报告1例PRKN基因... 帕金森病的发病率位居神经系统退行性疾病的第二,仅次于阿尔茨海默病。早发型帕金森病(early-onset Parkinson’s disease,EOPD)指50岁前出现首发症状的帕金森病。EOPD与基因突变有一定的关系,并有独特的临床特征。本文报告1例PRKN基因合并APOB基因突变的EOPD,该患者于28岁时出现行走不稳的首发症状,后续出现动作迟缓、四肢震颤等症状。体格检查示:面具脸,慌张步态,双上肢肌张力齿轮样增高。总胆固醇6.48 mmol/L,低密度脂蛋白胆固醇4.13 mmol/L。PRKN基因外显子5缺失,外显子7点突变[c.850G>C(p.Gly284Arg)];APOB基因外显子26点突变[c.10579C>T(p.Arg3527Trp)]。根据上述临床表现及检查结果,该患者被诊断为EOPD。PRKN基因的复合杂合突变及PRKN基因合并APOB基因突变均为首次报道,这丰富了EOPD的基因突变类型谱。 展开更多
关键词 早发型帕金森病 四肢震颤 PRKN基因 APOB基因
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Defective lysosomal acidification:a new prognostic marker and therapeutic target for neurodegenerative diseases 被引量:5
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作者 Chih Hung Lo Jialiu Zeng 《Translational Neurodegeneration》 CSCD 2023年第1期500-510,共11页
Lysosomal acidification dysfunction has been implicated as a key driving factor in the pathogenesis of neurodegenerative diseases,including Alzheimer’s disease and Parkinson’s disease.Multiple genetic factors have b... Lysosomal acidification dysfunction has been implicated as a key driving factor in the pathogenesis of neurodegenerative diseases,including Alzheimer’s disease and Parkinson’s disease.Multiple genetic factors have been linked to lysosomal de-acidification through impairing the vacuolar-type ATPase and ion channels on the organelle membrane.Similar lysosomal abnormalities are also present in sporadic forms of neurodegeneration,although the underlying pathogenic mechanisms are unclear and remain to be investigated.Importantly,recent studies have revealed early occurrence of lysosomal acidification impairment before the onset of neurodegeneration and late-stage pathology.However,there is a lack of methods for organelle pH monitoring in vivo and a dearth of lysosome-acidifying therapeutic agents.Here,we summarize and present evidence for the notion of defective lysosomal acidification as an early indicator of neurodegeneration and urge the critical need for technological advancement in developing tools for lysosomal pH monitoring and detection both in vivo and for clinical applications.We further discuss current preclinical pharmacological agents that modulate lysosomal acidification,including small molecules and nanomedicine,and their potential clinical translation into lysosome-targeting therapies.Both timely detection of lysosomal dysfunction and development of therapeutics that restore lysosomal function represent paradigm shifts in targeting neurodegenerative diseases. 展开更多
关键词 Neurodegenerative diseases Alzheimer’s disease parkinsons disease Lysosomal de-acidification Autophagy dysfunction early detection Prognostic marker small molecules NANOMEDICINE Nanoparticles
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基于问题解决模式的中医护理干预对早期帕金森病患者生活质量的效果观察
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作者 李慧芳 杨锦湄 +2 位作者 刘雨丹 罗丽 杨玲玲 《现代医药卫生》 2024年第19期3315-3319,共5页
目的探讨以问题解决(ADOPT)模式为导向的中医护理干预对早期帕金森病患者生活质量的影响。方法选取2023年3-11月昆明市中医医院老年病科满足纳排标准的86例早期帕金森病患者,采用随机数字表法将其分为对照组与观察组,2组分别选择该科室... 目的探讨以问题解决(ADOPT)模式为导向的中医护理干预对早期帕金森病患者生活质量的影响。方法选取2023年3-11月昆明市中医医院老年病科满足纳排标准的86例早期帕金森病患者,采用随机数字表法将其分为对照组与观察组,2组分别选择该科室的2个病区纳入,一病区为对照组(43例),二病区为观察组(43例)。对照组采取常规中医护理干预,观察组实施基于ADOPT模式的中医护理干预方案。结果干预前2组患者的自我管理能力得分、改良Hoehn-Yahr(H-Y)分级、生活质量评分比较,差异无统计学意义(P>0.05)。干预后,观察组患者的自我管理能力得分、Hoehn-Yahr(H-Y)分级、生活质量评分均优于对照组,差异有统计学意义(P<0.05)。结论ADOPT模式指导下早期帕金森病患者的中医护理干预方案可以提高患者自我管理能力、延缓疾病进展,进而改善患者的生活质量。 展开更多
关键词 问题解决模式 中医护理 早期帕金森病 生活质量
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帕金森病非运动症状临床特点研究 被引量:14
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作者 张树山 朱陶 +2 位作者 李程旭 余巨明 李健 《川北医学院学报》 CAS 2016年第4期520-524,共5页
目的:全面评估帕金森病(Parkinson disease,PD)患者非运动症状,总结男性和女性PD患者、青年型和老年型PD患者非运动症状临床特征的异同。方法:应用统一PD评定量表第三部分和H-Y分级评估PD患者的运动功能和疾病严重程度;应用非运动症状... 目的:全面评估帕金森病(Parkinson disease,PD)患者非运动症状,总结男性和女性PD患者、青年型和老年型PD患者非运动症状临床特征的异同。方法:应用统一PD评定量表第三部分和H-Y分级评估PD患者的运动功能和疾病严重程度;应用非运动症状评定量表全面评估PD患者各项非运动症状的发生率。结果:本研究纳入38例为青年型PD,62例为老年型PD。女性PD患者更易出现紧张、疼痛等症状,而男性更易出现注意力缺乏及忘记做事情等症状;泌尿系统症状等非运动症状在男性PD患者更常见。老年型PD患者胃肠道症状及泌尿系统症状发生率明显高于青年型PD患者,且吞咽困难、便秘、夜尿增多、嗅觉减退等症状在老年型PD患者更常见。结论:非运动症状在PD患者中十分常见,男女PD患者合并不同的非运动症状,老年型PD患者合并更多的非运动症状。 展开更多
关键词 帕金森病 非运动症状量表 青年型帕金森病 老年型帕金森病
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早发型与晚发型帕金森病患者临床异质性的研究 被引量:11
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作者 万志荣 商梦晴 +1 位作者 冯涛 李继来 《临床神经病学杂志》 CAS 北大核心 2016年第3期178-181,共4页
目的通过横断面调查,研究早发型帕金森病(PD)(EOP)与晚发型PD(LOP)患者的临床异质性。方法连续选取自2013年10月~2015年8月我院门诊及天坛医院帕金森专病门诊的PD患者455例,以50岁发病年龄为界分为EOP组217例和LOP组238例,记录起... 目的通过横断面调查,研究早发型帕金森病(PD)(EOP)与晚发型PD(LOP)患者的临床异质性。方法连续选取自2013年10月~2015年8月我院门诊及天坛医院帕金森专病门诊的PD患者455例,以50岁发病年龄为界分为EOP组217例和LOP组238例,记录起病年龄、首发症状、病程时间、初始药物的选择、出现症状到临床诊断的时间间隔、诊断后与启动药物治疗的时间间隔等数据并进行对比。结果 EOP组平均发病年龄为(40.3±7.1)岁,以非震颤型起病最多见(占55.8%),开期平均改良Hoehn-Yahr(H-Y)分级为2.4级,平均病程为(7.84±5.71)年;LOP组平均发病年龄为(60.4±7.7)岁,以震颤型方式起病最多见(占52.5%),开期平均改良H-Y分级为2.6级,平均病程为(5.51±3.73)年。左旋多巴是二组最主要的起始药物选择。二组在性别、出现症状到临床诊断时间间隔、诊断后开始服药的时间间隔、H-Y分级等方面的比较无显著性差异。结论 EOP与LOP在首发症状、病程进展及起始药物选择方面存在明显的异质性,需提高PD的早期诊治率。 展开更多
关键词 帕金森病 早发型 晚发型 异质性
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晚发型帕金森病经颅超声的表现 被引量:10
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作者 陈静 孙相如 黄一宁 《中风与神经疾病杂志》 CAS CSCD 北大核心 2009年第3期343-346,共4页
目的研究晚发型帕金森病(LOPD)患者经颅超声(transcranial sonography,TCS)的表现。方法招募符合入选标准的LOPD患者和年龄匹配的正常对照者,分别进行TCS检测。对于检测成功的受试者的黑质异常信号进行半定量分级测评,同时测定第三脑室... 目的研究晚发型帕金森病(LOPD)患者经颅超声(transcranial sonography,TCS)的表现。方法招募符合入选标准的LOPD患者和年龄匹配的正常对照者,分别进行TCS检测。对于检测成功的受试者的黑质异常信号进行半定量分级测评,同时测定第三脑室的宽度。结果TCS检查在老年女性中成功率很低。两组间黑质强回声分级有极强的显著性差异。黑质强回声分级与患者的年龄、发病年龄、病程及病情严重程度不相关。两组间第三脑室宽度无显著性差异。结论TCS检查在老年女性中应用受限制。明显的黑质异常强回声可能是LOPD患者的特征性表现。其强回声分级与患者年龄、发病年龄、病程及病情严重程度不相关。晚发型帕金森病患者组无明显第三脑室增宽。 展开更多
关键词 经颅超声 晚发型帕金森病
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早发性帕金森病患者经颅超声的表现 被引量:4
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作者 陈静 黄一宁 孙相如 《中风与神经疾病杂志》 CAS CSCD 北大核心 2013年第3期211-214,共4页
目的研究早发性帕金森病(EOPD)患者经颅超声(transcranial sonography,TCS)的表现。方法招募符合入选标准的EOPD患者和性别、年龄匹配的正常对照者,分别进行TCS检测。对受试者的黑质信号进行半定量分级测评,同时测定第三脑室的宽度。结... 目的研究早发性帕金森病(EOPD)患者经颅超声(transcranial sonography,TCS)的表现。方法招募符合入选标准的EOPD患者和性别、年龄匹配的正常对照者,分别进行TCS检测。对受试者的黑质信号进行半定量分级测评,同时测定第三脑室的宽度。结果两组间黑质强回声分级有极强的显著性差异。黑质强回声分级与患者的年龄、发病年龄、病程及病情严重程度不相关。两组间第三脑室宽度无显著性差异。结论和以往关于LOPD患者的研究结果类似,EOPD患者也能发现明显的黑质异常强回声。其强回声分级与患者年龄、发病年龄、病程及病情严重程度不相关。EOPD患者组无明显第三脑室增宽。 展开更多
关键词 经颅超声 早发性帕金森病
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帕金森病与ATP13A2基因 被引量:3
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作者 梁卉 郑文 邓昊 《基础医学与临床》 CSCD 北大核心 2011年第10期1161-1164,共4页
ATP13A2基因是帕金森病(PD)的致病基因,早发型帕金森病(EOPD)和Kufor-Rakeb综合征(KRS)患者中均发现ATP13A2基因突变。基因突变类型与疾病的严重程度和发病年龄相关,PD患者中黑质多巴胺能神经元也存在ATP13A2基因mRNA表达升高。因此,对A... ATP13A2基因是帕金森病(PD)的致病基因,早发型帕金森病(EOPD)和Kufor-Rakeb综合征(KRS)患者中均发现ATP13A2基因突变。基因突变类型与疾病的严重程度和发病年龄相关,PD患者中黑质多巴胺能神经元也存在ATP13A2基因mRNA表达升高。因此,对ATP13A2基因的研究将有助于该病的基因诊断、病理生理学机制的阐明和治疗。 展开更多
关键词 帕金森病 ATP13A2基因 早发型帕金森病 Kufor-Rakeb综合征
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