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Toll-like receptors (TLRs) are important mediators of inflammatory responses by recognition of many pathogen-related molecules and endogenous proteins related to immune activation. Accumulating data have recently pointed out the role of neuroinflammation in Parkinson's disease (PD) pathogenesis. In the present study, we investigated the potential role of the TLR9 -1237 T/C and TLR2 -194 to -174 del polymorphisms in PD. We studied a total of 333 individuals, 215 Greek patients with sporadic PD and 118 control subjects, using a polymerase chain reaction-restriction fragment length polymorphism method. No statistically significant differences were found between PD patients and control subjects for the TLR9 -1237 T/C genotypes or alleles. Regarding the TLR2 -196 to -174 del polymorphism, the del/del genotype and the del allele were overrepresented in the PD group compared to controls, however, this result did not reach statistical significance (P = 0.087). Further studies investigating the TLR-inflammatory background of PD are awaited to provide important insight into the aetiology of the disease. [ABSTRACT FROM AUTHOR]

Toll-like receptors (TLRs) are important mediators of inflammatory responses by recognition of many pathogen-related molecules and endogenous proteins related to immune activation. Accumulating data have recently pointed out the role of neuroinflammation in Parkinson's disease (PD) pathogenesis. In the present study, we investigated the potential role of the TLR9 − 1237 T/C and TLR2 − 194 to − 174 del polymorphisms in PD. We studied a total of 333 individuals, 215 Greek patients with sporadic PD and 118 control subjects, using a polymerase chain reaction-restriction fragment length polymorphism method. No statistically significant differences were found between PD patients and control subjects for the TLR9 − 1237 T/C genotypes or alleles. Regarding the TLR2 − 196 to − 174 del polymorphism, the del/del genotype and the del allele were overrepresented in the PD group compared to controls, however, this result did not reach statistical significance ( P = 0.087). Further studies investigating the TLR-inflammatory background of PD are awaited to provide important insight into the aetiology of the disease. [ABSTRACT FROM AUTHOR]

Parkinson's disease (PD) is a complex, heterogeneous neurodegenerative disorder, affecting approximately 1% of the population over 60 years of age. The molecular and cellular mechanisms underlying PD pathogenesis are still unknown. Clathrin-mediated endocytosis (CME) is a procedure closely related to the intracellular trafficking of multiple molecules in the cell, including proteins, lipids, and neurotransmitters. Recently, variations in the gene encoding the phosphatidylinositol binding clathrin assembly protein (PICALM) has been associated with Alzheimer's disease (AD), suggesting a possible role of CME in the pathogenesis of neurodegenerative diseases. In this study, we examined for the first time the potential role of the PICALM rs3851179 polymorphism in PD. We studied the PICALM rs3851179 polymorphism in 191 Greek patients with sporadic PD and 118 control subjects, using a PCR-RFLP method. Our results do not provide evidence that the PICALM rs3851179 polymorphism increase susceptibility of PD, in the Greek population. [ABSTRACT FROM AUTHOR]

The purpose of this study was the evaluation of pupil light reflex (PLR) in patients with Parkinson's disease (PD) by using a modern pupillometry system and the investigation of its potential relationship with dopamine transporter imaging (DaTSCAN), which is an objective method for the evaluation of presynaptic dopaminergic system. PLR was evaluated using pupillometry in 35 patients with PD without clinical evidence of autonomic dysfunction and 44 healthy matched controls. PLR was elicited using a fully automated pupillometry system and six parameters were measured. Dopamine transporter imaging was performed using radioactive ioflupane 123I-FP-CIT [[123I-N-ω-fluoropropyl-2β-carbomethoxy-3β-(4-iodophenyl)-nortropane]]. A significant increase in latency and a significant decrease in amplitude, maximum constriction velocity, as well as maximum acceleration were observed in PD patients. There was no significant difference in initial radius and minimum radius values. Investigating the relationship between pupillometry parameters and 123I-FP-CIT binding values, we correlated values from the semiquantitative analysis of radioligand uptake with pupillometry parameters, but we found no significant correlation. This study demonstrates PLR impairment in patients with PD without overt autonomic dysfunction. This impairment does not seem to correspond to the reduction of radioligand binding in the striatum as the result of presynaptic dopaminergic dysfunction, suggesting a different deterioration rate of these systems. [ABSTRACT FROM AUTHOR]

BACKGROUND: Chronic obstructive pulmonary disease (COPD) profoundly impacts patients' functional status, especially in the advanced stages, when long-term oxygen therapy (LTOT) is implemented. OBJECTIVE: To determine the health-related quality of life (HRQOL) in patients with COPD and using LTOT, and assess the relationship of socioeconomic characteristics and pulmonary function test results to HRQOL scores. METHODS: We studied a group of 85 patients with COPD and hypoxemia who were on LTOT, and a control group of 48 patients with stable COPD but without hypoxemia. All subjects were asked to rate their dyspnea on the Modified Medical Research Council dyspnea scale, and to take the Medical Outcomes Study Short Form (SF-36), the General Health Questionnaire (30 questions), and a questionnaire (which we developed for this study) to measure their independence in activities of daily living (ADL). We also conducted pulmonary function tests and arterial blood gas analyses, and recorded socioeconomic characteristics. RESULTS: The subjects' socioeconomic status was moderate to low. HRQOL was impaired in patients on LTOT, especially in the physical function domain, and most of the examined dimensions correlated with the severity of dyspnea and psychological status. There was a significant association between ADL score and SF-36 score in the vitality and physical domains, but there was no significant association between HRQOL score and spirometry or blood gas values. CONCLUSIONS: HRQOL in patients with COPD and on LTOT is low and is influenced by dyspnea, mental status, and incapacity, rather than by physiological variables. We recommend a multidimensional therapeutic approach that targets symptom-control and ADL support to improve the patient's overall HRQOL. [ABSTRACT FROM AUTHOR]

The article investigates the prevalence of sleep-disordered breathing (SDB) among railway drivers in Greece, and correlates it with daytime sleepiness, quality of life, and symptoms. Data suggests that most of the Greek railway drivers are overweight and smokers. The most frequently reported symptom in the questionnaires is snoring, without significant daytime impairment, while sleep studies reveal a potentially higher prevalence of OSA.

Parkinson's Disease (PD) is the second most common neurodegenerative disorder with the non-motor symptoms preceding the motor impairment that is needed for clinical diagnosis. In the current study, an angle-based analysis that processes activity data during sleep from a smartwatch for quantification of sleep quality, when applied on controls and PD patients, is proposed. Initially, changes in their arm angle due to activity are captured from the smartwatch triaxial accelerometry data and used for the estimation of the corresponding binary state (awake/sleep). Then, sleep metrics (i.e., sleep efficiency index, total sleep time, sleep fragmentation index, sleep onset latency, and wake after sleep onset) are computed and used for the discrimination between controls and PD patients. A process of validation of the proposed approach when compared with the PSG-based ground truth in an in-the-clinic setting, resulted in comparable state estimation. Moreover, data from 15 early PD patients and 11 healthy controls were used as a test set, including 1,376 valid sleep recordings in-the-wild setting. The univariate analysis of the extracted sleep metrics achieved up to 0.77 AUC in early PD patients vs. healthy controls classification and exhibited a statistically significant correlation (up to 0.46) with the clinical PD Sleep Scale 2 counterpart Items. The findings of the proposed method show the potentiality to capture non-motor behavior from users' nocturnal activity to detect PD in the early stage.

Parkinson's Disease (PD) is the second most common neurodegenerative disorder worldwide, causing both motor and non-motor symptoms. In the early stages, symptoms are mild and patients may ignore their existence. As a result, they do not undergo any related clinical examination; hence delaying their PD diagnosis. In an effort to remedy such delay, analysis of data passively captured from user's interaction with consumer technologies has been recently explored towards remote screening of early PD motor signs. In the current study, a smartphone-based method analyzing subjects' finger interaction with the smartphone screen is developed for the quantification of fine-motor skills decline in early PD using Convolutional Neural Networks. Experimental results from the analysis of keystroke typing in-the-clinic data from 18 early PD patients and 15 healthy controls have shown a classification performance of 0.89 Area Under the Curve (AUC) with 0.79/0.79 sensitivity/specificity, respectively. Evaluation of the generalization ability of the proposed approach was made by its application on typing data arising from a separate self-reported cohort of 27 PD patients' and 84 healthy controls' daily usage with their personal smartphones (data in-the-wild), achieving 0.79 AUC with 0.74/0.78 sensitivity/specificity, respectively. The results show the potentiality of the proposed approach to process keystroke dynamics arising from users' natural typing activity to detect PD, which contributes to the development of digital tools for remote pathological symptom screening.

The purpose of this study was the evaluation of pupil light reflex (PLR) in patients with Parkinson's disease (PD) by using a modern pupillometry system and the investigation of its potential relationship with dopamine transporter imaging (DaTSCAN), which is an objective method for the evaluation of presynaptic dopaminergic system. PLR was evaluated using pupillometry in 35 patients with PD without clinical evidence of autonomic dysfunction and 44 healthy matched controls. PLR was elicited using a fully automated pupillometry system and six parameters were measured. Dopamine transporter imaging was performed using radioactive ioflupane (123)I-FP-CIT [(123)I-N-ω-fluoropropyl-2β-carbomethoxy-3β-(4-iodophenyl)-nortropane]. A significant increase in latency and a significant decrease in amplitude, maximum constriction velocity, as well as maximum acceleration were observed in PD patients. There was no significant difference in initial radius and minimum radius values. Investigating the relationship between pupillometry parameters and (123)I-FP-CIT binding values, we correlated values from the semiquantitative analysis of radioligand uptake with pupillometry parameters, but we found no significant correlation. This study demonstrates PLR impairment in patients with PD without overt autonomic dysfunction. This impairment does not seem to correspond to the reduction of radioligand binding in the striatum as the result of presynaptic dopaminergic dysfunction, suggesting a different deterioration rate of these systems.

Autosomal dominant familial Parkinson's disease (PD) due to the alpha-synuclein (G209A) mutation shares similar clinical characteristics with sporadic PD. Pathological studies however indicate more widespread neuronal degeneration in the familial form. We performed (123)I-FP-CIT SPET (DaTSCAN) study in nine patients with familial PD carrying the alpha-synuclein (G209A) mutation and fifteen matched patients with sporadic disease. Both groups had equal radioligand reduction uptake in the striatum but the alpha-synuclein patients showed less asymmetry and increased putamen to caudate ratio. Our findings indicate that there are minor differences in DAT SPET parameters between alpha-synuclein and sporadic PD patients insufficient to provide differential diagnosis.

The aim of the present study was to evaluate the use of the radiopharmaceutical 123I-ioflupane in the diagnosis and differential diagnosis of Parkinsonism (P) and essential tremor (ET). Forty-three consecutive patients, aged 35-72 years, presenting symptoms and signs compatible with P, plus 11 normal volunteers, aged 40-60 years, were enrolled for the study. The radiopharmaceutical was injected iv in a dose of 185 MBq and tomographic acquisition in a single-headed Pegasys gamma-camera (ADAC, USA), 3-4 hours post injection was performed in order to evaluate the activity of the presynaptic nigro-striatal dopaminergic transporter. After reconstruction and reorientation, semiquantitative analysis was performed evaluating counts/pixel: a) in the striatum and its parts (caudate nucleus and putamen) of both hemispheres and b) in the visual cortex representing non specific binding. According to our results, all 21 individuals with ET were correctly evaluated with this method, whilst 21/22 patients were diagnosed as having P. No statistical difference concerning the binding of the radioligand to the striatum and its parts was found between normal volunteers and patients with ET. Based on the present results in 21 of our patients, the diagnosis and treatment procedure were changed, while in the remaining 22 patients diagnosis and treatment were confirmed. According to our data, as well as to the data from others, molecular imaging (SPET) with 123I-ioflupane can properly differentiate individuals with ET from those having P, in order to avoid an unnecessary use of drugs that may even cause side effects. All our patients were re-examined after eight months. At that time the above results and the treatment that was given to them meanwhile, were positively evaluated.

We studied the effects of higher mental activity on the EEG, i.e., neuropsychological EEG activation (NPA), in patients with juvenile myoclonic epilepsy (JME). Thirty patients with JME underwent a conventional EEG recording and EEG recording during performance of a battery of twelve neuropsychological tasks, which involved decision making, reading, calculations, constructive activities and drawing. Twenty-three JME patients (76.6%) responded (i.e., showed EEG activation) to at least one neuropsychological task (p = 0.003). Four neuropsychological tasks, two involving the use of the hands and two without manual involvement, were associated with a high frequency of EEG activation (40-60% of JME patients), although statistical analysis did not reveal any one test as the most significant for NPA activation. Neuropsychological EEG activation, using a variety of tasks both manual and non-manual, is a useful tool in evaluating patients with JME.

Various instruments with good psychometric properties have been developed for the assessment of health-related quality of life (HRQoL) in Parkinson's disease, (PD); however, in everyday practice a brief questionnaire is needed for quick screening of patients. We present the process of development and validation of the Greek version of PD questionnaire-8 (PDQ-8(GrV)), which is an 8-item scale derived from a well-known measure for the evaluation of HRQoL in PD, the PD questionnaire (PDQ-39). PDQ-8 (GrV) was applied to 228 nondemented Greek PD patients. Data from PDQ-39 were also collected from these patients for comparisons between the total scores of the two scales. Detailed statistical analysis showed that PD-8(GrV) has psychometric properties analogous to its parent questionnaire., (Copyright 2003 Movement Disorder Society)