18 research outputs found
Automatic quantification of REM sleep without atonia reliably identifies patients with REM sleep behavior disorder: a possible screening tool?
Background: REM Sleep Behavior Disorder (RBD) is characterized by absence of physiological muscle atonia during REM sleep (REM sleep without atonia, RWA). Nigro-striatal dopaminergic impairment is a feature of Parkinson disease (PD) and can be identified in prodromal stages as well, such as idiopathic RBD (iRBD). Aims of this study are to explore the efficacy of an automatic RWA quantification in identifying RBD patients and the correlation between RWA and nigro-striatal dopaminergic function. Methods: Forty-five iRBD, 46 PD with RBD, 24 PD without RBD patients and 11 healthy controls were enrolled in the Genoa Center (group A) and 25 patients with iRBD (group B) were enrolled in the Danish Center. Group A underwent brain [123I]FP-CIT-SPECT and group B underwent brain [18F]PE2I-PET as measures of nigro-striatal dopaminergic function. Chin muscle activity was recorded in all subjects and analyzed by applying a published automatic algorithm. Correlations between RWA and nigro-striatal dopaminergic function were explored. Results: The automatic quantification of RWA significantly differentiated RBD from non-RBD subjects (AUC = 0.86), although with lower accuracy compared with conventional visual scoring (AUC = 0.99). No significant correlation was found between RWA and nigro-striatal dopaminergic function. Conclusion: The automatic quantification of RWA is a reliable tool to identify subjects with RBD and may be used as a first-line screening tool, but without correlations with nigro-striatal dopaminergic functioning
Assessment of QT variability in Parkinson's disease and REM sleep behaviour disorder during REM phase
QT interval variability (QTV) is a marker of ventricular repolarization variability, frequently associated with sympathetic outflow and cardiovascular risk. This study explores QTV in drug-naϊve ten Parkison's disease (PD), ten PD with Rapid Eye Movement (REM) Sleep Behavior Disorder (PD-RBD) subjects, and ten control (CG) participants. Five minutes of ECG data from polysomnographic recordings during REM sleep were used for analysis. To assess QTV, both time domain and frequency domain indexes were calculated. The results indicated higher QTV in PD groups compared to both CG and RBDpd, suggesting significant cardiac autonomic dysregulation in PD patients
Molecular and morphological diversity of on-farm hazelnut (Corylus avellana L.) landraces from southern Europe and their role in the origin and diffusion of cultivated germplasm
Hazelnut (Corylus avellana L.) is a traditional nut crop in southern Europe. Germplasm exploration conducted on-farm in five countries (Portugal, Spain, Italy, Slovenia, and Greece) identified 77 landraces. The present work describes phenotypic variation in nut and husk traits and investigates genetic relationships using ten simple sequence repeat (SSR) markers among these landraces, 57 well-known references cultivars, and 19 wild accessions. Among the 77 landraces, 42 had unique fingerprints while 35 showed a SSR profile identical to a known cultivar. Among the 42 unique landraces, morphological observations revealed high phenotypic diversity, and some had characteristics appreciated by
the market such as nut round and caliber. Analysis of genetic relationships and population structure allowed investigation of the origin and spread of the cultivated germplasm in southern Europe. Our results indicate the existence of three primary centers of diversity in the Mediterranean basin: northwestern Spain (Tarragona) and southern Italy (Campania) in the West and Black Sea (Turkey) in the East. Moreover, the data suggest the existence of secondary gene pools in the Iberian (Asturias) and Italian (Liguria and Latium) Peninsulas, where
local varieties were recently domesticated from wild forms and/or from introduced ancient domesticated varieties
Characterization of Sleep Structure and Autonomic Dysfunction in REM Sleep Behavior Disorder
Goal: REM Sleep Behavior Disorder (RBD) is a REM parasomnia that is associated to high risk of developing ⍺-synucleinopathies, as Parkinson's disease (PD) or dementia with Lewy bodies, over time. This study aims at investigating the presence of autonomic dysfunctions in RBD subjects, with and without PD, by assessing their sleep structure and autonomous nervous system activity along the different sleep stages. Methods: To this aim, an innovative framework combining a sleep transition model, by Markov chains, with an instantaneous assessment of autonomic state dynamics by statistical modeling of heart rate variability (HRV) dynamics through a point-process approach, was introduced. Results: In general, RBD groups showed lower HRV than controls across all sleep stages, as well as higher probabilities of transitioning towards lighter sleep stages. Subjects also affected by PD present an even lower HRV, but better sleep continuity. Conclusions: RBD patients suffer from sleep fragmentation and overall autonomic dysfunction, mainly due to lower autonomic activation across all sleep stages. Coexistence of PD seems to improve sleep quality, possibly due to a sleep-related relief of their symptoms
Autonomic dysfunction in REM sleep disorder: the role of respiration in HRV analysis
Autonomic nervous system (ANS) has been suggested often associated with the isolated rapid eye movement (REM) sleep behavior disorder (iRBD), with iRBD, and heart rate variability (HRV) is a commonly used tool to assess it. However, the accuracy of HRV is heavily influenced by respiratory rate (RespR), potentially causing misinterpretation of frequency domain HRV indices. This study compares sleep-related ANS function between iRBD patients and a control group (CG) using respiratory-adjusted HRV spectral analysis. It involves 20 iRBD and 20 CG participants in each group, from which five-minute ECG signal epochs during N2, N3, and REM sleep phases are analyzed. RespR were estimated from ECG-derived respiratory signals. Both low and high frequency bands definition for HRV analysis were redefined using the RespR. The results indicate significant differences in HRV parameters between iRBD and CG subjects during REM sleep, highlighting disrupted autonomic regulation in iRBD. This finding is also evident in non-REM phases, thus emphasizing the need to incorporate RespR in HRV analysis, especially in sleep-related studies, for a comprehensive understanding of autonomic dysfunction
Magnetic susceptibility components reveal different aspects of neurodegeneration in alpha-synucleinopathies
Nigrostriatal dopaminergic degeneration in alpha-synucleinopathies is indirectly reflected by low dopamine transporter (DaT) uptake through [123I]FP-CIT-SPECT. Bulk magnetic susceptibility () in the substantia nigra, from MRI-based quantitative susceptibility mapping (QSM), is a potential biomarker of nigrostriatal degeneration, however, QSM cannot disentangle paramagnetic (e.g. iron) and diamagnetic (e.g. myelin) sources. Using the susceptibility source-separation technique DECOMPOSE, paramagnetic component susceptibility (PCS) and diamagnetic component susceptibility (DCS) were studied in prodromal and overt alpha-synucleinopathies, and their relationships with DaT-SPECT specific binding ratio (SBR) and clinical scores. 78 participants were included (23 controls, 30 prodromal and 25 overt alpha-synucleinopathies). Prodromal patients were subdivided into groups with positive or negative DaT-SPECT (SBR Z-scores below or above -1, respectively). Correlations of putamen and caudate SBR Z-scores with PCS and DCS in the substantia nigra, putamen, and caudate were investigated. Increased PCS was observed in the substantia nigra of prodromal alpha-synucleinopathy patients with positive DaT-SPECT compared to controls and prodromal patients with negative DaT-SPECT. SBR Z-scores in the putamen correlated with increased PCS in the substantia nigra and reduced |DCS| in the putamen, which may reflect dopaminergic degeneration ascribable to iron accumulation and nigrostriatal neuron axonal loss, respectively
Cognitive and Brain Metabolism Profiles of Mild Cognitive Impairment in Prodromal Alpha-Synucleinopathy
Background: Mild cognitive impairment (MCI) is a heterogeneous condition. Idiopathic REM sleep behavior disorder (iRBD) can be associated with MCI (MCI-RBD).Objective: To investigate neuropsychological and brain metabolism features of patients with MCI-RBD by comparison with matched MCI-AD patients. To explore their predictive value toward conversion to a full-blown neurodegenerative disease.Methods: Seventeen MCI-RBD patients (73.6 +/- 6.5 years) were enrolled. Thirty-four patients with MCI-AD were matched for age (74.8 +/- 4.4 years), Mini-Mental State Exam score and education with a case-control criterion. All patients underwent a neuropsychological assessment and brain F-18-FDG-PET. Images were compared between groups to identify hypometabolic volumes of interest (MCI-RBD-VOI and MCI-AD-VOI). The dependency of whole-brain scaled metabolism levels in MCI-RBD-VOI and MCI-AD-VOI on neuropsychological test scores was explored with linear regression analyses in both groups, adjusting for age and education. Survival analysis was performed to investigate VOIs phenoconversion prediction power.Results: MCI-RBD group scored lower in executive functions and higher in verbal memory compared to MCI-AD group. Also, compared with MCI-AD, MCI-RBD group showed relative hypometabolism in a posterior brain area including cuneus, precuneus, and occipital regions while the inverse comparison revealed relative hypometabolism in the hippocampus/parahippocampal areas in MCI-AD group. MCI-RBD-VOI metabolism directly correlated with executive functions in MCI-RBD (p = 0.04). MCI-AD-VOI metabolism directly correlated with verbal memory in MCI-AD (p = 0.001). MCIRBD-VOI metabolism predicted (p = 0.03) phenoconversion to an alpha-synucleinopathy. MCI-AD-VOI metabolism showed a trend (p = 0.07) in predicting phenoconversion to dementia.Conclusion: MCI-RBD and MCI-AD showed distinct neuropsychological and brain metabolism profiles, that may be helpful for both diagnosis and prognosis purposes
Clinical and metabolic profiles in behavioural frontotemporal dementia: Impact of age at onset
Aim: Frontotemporal dementia (FTD) is a heterogeneous neurodegenerative disorder, with considerable variability of age-at-onset. We explored clinical and metabolic differences between early- and late-onset behavioural FTD (bvFTD), assuming that they might represent different disease phenotypes. Materials and methods: We retrospectively studied consecutive patients diagnosed with prodromal or overt bvFTD with [18F]FDG PET scan, neuropsychological assessment (NPS), and Neuropsychiatric Inventory (NPI) available at baseline. Patients were divided into three groups based on age-at-onset: early onset-bvFTD (EO-bvFTD, age<70), late onset-bvFTD (LO-bvFTD, age 70–75) and very late onset-bvFTD (vLO-bvFTD, age>75). NPS and NPI were compared between groups and in the subset of prodromal patients, to study different syndromic phenotypes. Voxel-based analysis compared brain [18F]FDG PET of EO-bvFTD, LO-bvFTD and vLO-bvFTD independently, with respect to healthy controls, to explore metabolic differences. An inter-regional metabolic covariance analysis was performed in frontal lobe subregions, to explore differences in brain connectivity. Moreover, we supported our result using a correlation-based approach on clinical and metabolic variables. Results: 101 bvFTD (62 prodromal bvFTD) were enrolled (EO-bvFTD: n = 36, prodromal n = 21; LO-bvFTD: n = 36, prodromal: n = 22; vLO-bvFTD: n = 29, prodromal: n = 19). Greater verbal memory deficit was evident in LO-bvFTD and vLO-bvFTD compared to EO-bvFTD (immediate recall: p = .018; p = .024; delayed recall: both p = .001, respectively), with similar results in the subset of prodromal patients. EO-bvFTD and LO-bvFTD had a higher behavioural severity than vLO-bvFTD. LO-bvFTD and vLO-bvFTD showed more widespread relative hypometabolism, with a greater involvement of posterior, subcortical and temporo-limbic regions compared with EO-bvFTD. Moreover, vLO-bvFTD showed a different pattern of intrafrontal metabolic covariance compared to EO-bvFTD and LO-bvFTD. Discussion: The cognitive–behavioural profile of bvFTD differs between early- and late-onset, already from the prodromal stage of the disease. Both metabolic pattern and functional connectivity vary based on age-at-onset. Understanding these differences could contribute to improve diagnostic accuracy and understanding the underling pathological heterogeneity
Suboptimal performance of cardiovascular magnetic resonance imaging for the assessment of myocardial viability at the early phase of an acute coronary syndrome: Usefulness of SPECT myocardial perfusion imaging
International audienceno abstrac
Diagnostic value of stress thallium-201/rest technetium-99m-sestamibi sequential dual isotope high-speed myocardial perfusion imaging for the detection of haemodynamically relevant coronary artery stenosis
International audienceBACKGROUND:The aim of this study was to determine the diagnostic accuracy of stress thallium-201/rest technetium-99m-sestamibi sequential dual-isotope high-speed myocardial perfusion imaging (DI-HS-MPI) against invasively determined fractional flow reserve (FFR).METHODS:Fifty-four consecutive patients prospectively underwent DI-HS-MPI before invasive coronary angiography. Perfusion was scored visually by summed stress score on a patient and coronary territory basis. Significant coronary artery disease (CAD) was defined by the presence of ≥ 90% stenosis/occlusion or fractional flow reserve ≤ 0.80 for coronary stenosis ≥ 50%.RESULTS:FFR was measured in 69 of 162 coronary vessels, with 1.28 ± 0.56 vessels assessed/patient. Sensitivity, specificity, and diagnostic accuracy of MPI for the detection of significant CAD were 92.8%, 69.2%, and 81.4%, on a patient basis, and 83.7%, 90.4%, and 88.8% by coronary territory.CONCLUSIONS:DI-HS-MPI accurately detects functionally significant CAD as defined by using FFR
