1. |
- Akkoyun, S., et al.
(author)
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AGATA - Advanced GAmma Tracking Array
- 2012
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In: Nuclear Instruments and Methods in Physics Research, Section A: Accelerators, Spectrometers, Detectors and Associated Equipment. - : Elsevier BV. - 0168-9002 .- 0167-5087 .- 1872-9576. ; 668, s. 26-58
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Journal article (peer-reviewed)abstract
- The Advanced GAmma Tracking Array (AGATA) is a European project to develop and operate the next generation γ-ray spectrometer. AGATA is based on the technique of γ-ray energy tracking in electrically segmented high-purity germanium crystals. This technique requires the accurate determination of the energy, time and position of every interaction as a γ ray deposits its energy within the detector volume. Reconstruction of the full interaction path results in a detector with very high efficiency and excellent spectral response. The realisation of γ-ray tracking and AGATA is a result of many technical advances. These include the development of encapsulated highly segmented germanium detectors assembled in a triple cluster detector cryostat, an electronics system with fast digital sampling and a data acquisition system to process the data at a high rate. The full characterisation of the crystals was measured and compared with detector- response simulations. This enabled pulse-shape analysis algorithms, to extract energy, time and position, to be employed. In addition, tracking algorithms for event reconstruction were developed. The first phase of AGATA is now complete and operational in its first physics campaign. In the future AGATA will be moved between laboratories in Europe and operated in a series of campaigns to take advantage of the different beams and facilities available to maximise its science output. The paper reviews all the achievements made in the AGATA project including all the necessary infrastructure to operate and support the spectrometer. © 2011 Elsevier B.V. All rights reserved.
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2. |
- Smol, T., et al.
(author)
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MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype
- 2018
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In: Neurogenetics. - : SPRINGER. - 1364-6745 .- 1364-6753. ; 19:2, s. 93-103
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Journal article (peer-reviewed)abstract
- Molecular anomalies in MED13L, leading to haploinsufficiency, have been reported in patients with moderate to severe intellectual disability (ID) and distinct facial features, with or without congenital heart defects. Phenotype of the patients was referred to "MED13L haploinsufficiency syndrome." Missense variants in MED13L were already previously described to cause the MED13L-related syndrome, but only in a limited number of patients. Here we report 36 patients with MED13L molecular anomaly, recruited through an international collaboration between centers of expertise for developmental anomalies. All patients presented with intellectual disability and severe language impairment. Hypotonia, ataxia, and recognizable facial gestalt were frequent findings, but not congenital heart defects. We identified seven de novo missense variations, in addition to protein-truncating variants and intragenic deletions. Missense variants clustered in two mutation hot-spots, i.e., exons 15-17 and 25-31. We found that patients carrying missense mutations had more frequently epilepsy and showed a more severe phenotype. This study ascertains missense variations in MED13L as a cause for MED13L-related intellectual disability and improves the clinical delineation of the condition.
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3. |
- Schiller, D, et al.
(author)
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The Human Affectome
- 2024
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In: Neuroscience and biobehavioral reviews. - 1873-7528. ; 158, s. 105450-
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Journal article (peer-reviewed)
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4. |
- Journeau, C., et al.
(author)
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European Research on the Corium issues within the SARNET network of excellence
- 2008
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In: International Conference on Advances in Nuclear Power Plants, ICAPP 2008. - 9781605607870 ; , s. 1172-1181
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Conference paper (peer-reviewed)abstract
- Within SARNET, the corium topic covers all the behaviors of corium from early phase of core degradation to in or ex-vessel corium recovery with the exception of corium interaction with water, direct containment heating and fission product release. The corium topic regroups in three work packages the critical mass of competence required to improve significantly the corium behavior knowledge. The spirit of the SARNET networking is to share the knowledge, the facilities and the simulation tools for severe accidents, so to reach a better efficiency and to rationalize the R&D effort at European level. Extensive benchmarking has been launched in most of the areas of research. These benchmarks were mainly dedicated to the recalculation of experiments, while, in the next periods, a larger focus will be given to integral experiments or reactor applications. Eventually, all the knowledge will be accumulated in the ASTEC severe accident simulation code through physical model improvements and extension of validation database. This paper summarizes the progress that has been achieved in the frame of the networking activities. A special focus is placed on the melt pool and debris coolability and corium-concrete interaction, in which, the effects due to multidimensional geometries and heterogeneities has been shown, during SARNET, to play a crucial role and for which further research is still needed.
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6. |
- Gürdal, G., et al.
(author)
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Measurements of g(41+,22+) in 70,72,74 ,76Ge: Systematics of low-lying structures in 30≤Z≤40 and 30≤N≤50 nuclei
- 2013
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In: Physical Review C - Nuclear Physics. - 2469-9985 .- 2469-9993. ; 88:1
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Journal article (peer-reviewed)abstract
- Background: The interplay between single-particle and collective excitations in the 30 ≤Z≤ 40 and 30 ≤N≤ 50 even-even isotopes has been examined in light of recent new measurements of magnetic moments of 41+, 22+, and 21+ states. Purpose: The g factors of the 41+ and 22+ states in the 72,74,76Ge isotopes have been measured for the first time and the g(21+) values have been remeasured. Methods: The transient field (TF) technique in inverse kinematics with a variety of targets has been applied, following Coulomb excitation of the relevant states. The data have been analyzed within the framework of the IBA-II model. Large-scale shell-model calculations have been performed within the p3/2,p1/2,f 5/2,g9/2 orbital space for both protons and neutrons with the JUN45 and JJ4B interactions. Results: The measured Ge g factors were compared to the g factors of the low-lying states of the neighboring Zn, Ge, Se, Kr, and Sr isotopes. The results were evaluated in the context of the systematics of g factors in the A∼80 region. Conclusions: The predictions based on the classic collective model and the interacting boson model IBA-II agree with the experimental results. No evidence for shell closure was found for neutrons at N=38 or N=40. © 2013 American Physical Society.
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10. |
- Logroscino, G, et al.
(author)
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Incidence of Syndromes Associated With Frontotemporal Lobar Degeneration in 9 European Countries
- 2023
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In: JAMA neurology. - : American Medical Association (AMA). - 2168-6157 .- 2168-6149. ; 80:3, s. 279-286
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Journal article (peer-reviewed)abstract
- Diagnostic incidence data for syndromes associated with frontotemporal lobar degeneration (FTLD) in multinational studies are urgent in light of upcoming therapeutic approaches.ObjectiveTo assess the incidence of FTLD across Europe.Design, Setting, and ParticipantsThe Frontotemporal Dementia Incidence European Research Study (FRONTIERS) was a retrospective cohort study conducted from June 1, 2018, to May 31, 2019, using a population-based registry from 13 tertiary FTLD research clinics from the UK, the Netherlands, Finland, Sweden, Spain, Bulgaria, Serbia, Germany, and Italy and including all new FTLD-associated cases during the study period, with a combined catchment population of 11 023 643 person-years. Included patients fulfilled criteria for the behavioral variant of frontotemporal dementia (BVFTD), the nonfluent variant or semantic variant of primary progressive aphasia (PPA), unspecified PPA, progressive supranuclear palsy, corticobasal syndrome, or frontotemporal dementia with amyotrophic lateral sclerosis (FTD-ALS). Data were analyzed from July 19 to December 7, 2021.Main Outcomes and MeasuresRandom-intercept Poisson models were used to obtain estimates of the European FTLD incidence rate accounting for geographic heterogeneity.ResultsBased on 267 identified cases (mean [SD] patient age, 66.70 [9.02] years; 156 males [58.43%]), the estimated annual incidence rate for FTLD in Europe was 2.36 cases per 100 000 person-years (95% CI, 1.59-3.51 cases per 100 000 person-years). There was a progressive increase in FTLD incidence across age, reaching its peak at the age of 71 years, with 13.09 cases per 100 000 person-years (95% CI, 8.46-18.93 cases per 100 000 person-years) among men and 7.88 cases per 100 000 person-years (95% CI, 5.39-11.60 cases per 100 000 person-years) among women. Overall, the incidence was higher among men (2.84 cases per 100 000 person-years; 95% CI, 1.88-4.27 cases per 100 000 person-years) than among women (1.91 cases per 100 000 person-years; 95% CI, 1.26-2.91 cases per 100 000 person-years). BVFTD was the most common phenotype (107 cases [40.07%]), followed by PPA (76 [28.46%]) and extrapyramidal phenotypes (69 [25.84%]). FTD-ALS was the rarest phenotype (15 cases [5.62%]). A total of 95 patients with FTLD (35.58%) had a family history of dementia. The estimated number of new FTLD cases per year in Europe was 12 057.Conclusions and RelevanceThe findings suggest that FTLD-associated syndromes are more common than previously recognized, and diagnosis should be considered at any age. Improved knowledge of FTLD incidence may contribute to appropriate health and social care planning and in the design of future clinical trials.
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11. |
- Stefanova, E. A., et al.
(author)
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Four-quasiparticle alignments in Ge-66
- 2003
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In: Acta Physica Polonica B. - 0587-4254 .- 1509-5770. ; 34:4, s. 2237-2240
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Journal article (peer-reviewed)abstract
- Above angular momentum 10(+), we found two positive-parity sequences, connected by energetically staggered DeltaI = 1 M1 transitions. The total Routhian surface calculations predict a strong triaxial deformation for them. To our knowledge, this is the first observation of staggered M1 transitions in a deformed four-quasiparticle pi(g(9/2)(2))v(g(9/2)(2)) regime.
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12. |
- Stefanova, E. A., et al.
(author)
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Four-quasiparticle alignments in Ge-66
- 2003
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In: Physical Review C. Nuclear Physics. - 0556-2813 .- 1089-490X. ; 67:5
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Journal article (peer-reviewed)abstract
- The neutron-deficient nucleus Ge-66 was populated at high spin in two experiments using the reaction Ca-40(S-32,alpha2p) at beam energies of 105 and 95 MeV. In the first experiment, a self-supporting Ca-40 target was used, while a gold-backed target of similar thickness was used in the second experiment. gamma rays were detected with the EUROBALL array, combined with the charged-particle detector array EUCLIDES and the Neutron Wall. The level scheme of Ge-66 was extended up to Eapproximate to18 MeV and I-pi=(23(-)). Above angular momentum 10(+), we found two sequences, connected by energetically staggered DeltaI=1 M1 transitions. The total Routhian surface calculations describe Ge-66 at lower spins as a gamma-soft nucleus having a moderate deformation of beta(2)approximate to0.23, while a triaxial deformation is predicted for the band structures above I-pi=10(+). To our knowledge, this is the first observation of staggered M1 transitions in a deformed four-quasiparticle pi(g(9/2)(2))nu(g(9/2)(2)) structure.
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13. |
- Stefanova, E. A., et al.
(author)
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Observation of negative-parity high-spin states of As-68
- 2005
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In: European Physical Journal A. - : Springer Science and Business Media LLC. - 1434-6001 .- 1434-601X. ; 24:1, s. 1-4
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Journal article (peer-reviewed)abstract
- The neutron-deficient nucleus As-68 was populated at high spin in two experiments using the reaction Ca-40(S-32, 3pn) at beam energies of 105 and 95 MeV. A self-supporting and a gold-backed, highly enriched Ca-40 target were used. Gamma rays were detected with the EUROBALL array, combined with the charged-particle detector array EUCLIDES and the Neutron Wall. The As-68 level scheme was considerably extended, especially at negative parity and many previous spin-parity assignments were confirmed or rejected. The total-Routhian-surface (TRS) calculations find shape coexistence and γ softness for the negative- and positive-parity states, respectively.
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18. |
- Frederiksen, K. S., et al.
(author)
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A European Academy of Neurology guideline on medical management issues in dementia
- 2020
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In: European Journal of Neurology. - : Wiley. - 1351-5101 .- 1468-1331. ; 27:10, s. 1805-1820
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Journal article (peer-reviewed)abstract
- Background and purpose: Dementia is one of the most common disorders and is associated with increased morbidity, mortality and decreased quality of life. The present guideline addresses important medical management issues including systematic medical follow-up, vascular risk factors in dementia, pain in dementia, use of antipsychotics in dementia and epilepsy in dementia. Methods: A systematic review of the literature was carried out. Based on the Grading of Recommendations, Assessment, Development and Evaluations (GRADE) framework, we developed a guideline. Where recommendations based on GRADE were not possible, a good practice statement was formulated. Results: Systematic management of vascular risk factors should be performed in patients with mild to moderate dementia as prevention of cerebrovascular pathology may impact on the progression of dementia (Good Practice statement). Individuals with dementia (without previous stroke) and atrial fibrillation should be treated with anticoagulants (weak recommendation). Discontinuation of opioids should be considered in certain individuals with dementia (e.g. for whom there are no signs or symptoms of pain or no clear indication, or suspicion of side effects; Good Practice statement). Behavioral symptoms in persons with dementia should not be treated with mild analgesics (weak recommendation). In all patients with dementia treated with opioids, assessment of the individual risk–benefit ratio should be performed at regular intervals. Regular, preplanned medical follow-up should be offered to all patients with dementia. The setting will depend on the organization of local health services and should, as a minimum, include general practitioners with easy access to dementia specialists (Good Practice statement). Individuals with dementia and agitation and/or aggression should be treated with atypical antipsychotics only after all non-pharmacological measures have been proven to be without benefit or in the case of severe self-harm or harm to others (weak recommendation). Antipsychotics should be discontinued after cessation of behavioral disturbances and in patients in whom there are side effects (Good Practice statement). For treatment of epilepsy in individuals with dementia, newer anticonvulsants should be considered as first-line therapy (Good Practice statement). Conclusion: This GRADE-based guideline offers recommendations on several important medical issues in patients with dementia, and thus adds important guidance for clinicians. For some issues, very little or no evidence was identified, highlighting the importance of further studies within these areas.
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19. |
- Minkova, V., et al.
(author)
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Thermochemical treatment of biomass in a flow of steam or in a mixture of steam and carbon dioxide
- 2000
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In: Fuel processing technology. - 0378-3820 .- 1873-7188. ; 62:1, s. 45-52
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Journal article (peer-reviewed)abstract
- Simultaneous pyrolysis and gasification of biomass samples of different origin is performed in a flow of steam or in a mixture of steam and carbon dioxide. Wastes from birch wood, olive stones, bagasse, and pellets from straw and Miscanthus are used as feedstock. The raw materials are heated with 10 degrees C/min to 750 degrees C at atmospheric pressure and kept for a period of 2 h at this temperature, Laboratory experimental equipment with a horizontal rotating stainless steel reactor is used. The oxygen-containing functional groups in the solid products (-COOH, =CO and -OH) are determined using the method of Boehm. The results are compared with those obtained in treatment in inert atmosphere as well as with those obtained in a stationary reactor. The rotating pyrolysis reactor seems suitable for production of energy-rich gaseous products and activated carbons.
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21. |
- Muelbert, Jose H., et al.
(author)
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ILTER : The International Long-Term Ecological Research Network as a Platform for Global Coastal and Ocean Observation
- 2019
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In: Frontiers in Marine Science. - : Frontiers Media S.A.. - 2296-7745. ; 6
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Research review (peer-reviewed)abstract
- Understanding the threats to global biodiversity and ecosystem services posed by human impacts on coastal and marine environments requires the establishment and maintenance of ecological observatories that integrate the biological, physical, geological, and biogeochemical aspects of ecosystems. This is crucial to provide scientists and stakeholders with the support and knowledge necessary to quantify environmental change and its impact on the sustainable use of the seas and coasts. In this paper, we explore the potential for the coastal and marine components of the International Long-Term Ecological Research Network (ILTER) to fill this need for integrated global observation, and highlight how ecological observations are necessary to address the challenges posed by climate change and evolving human needs and stressors within the coastal zone. The ILTER is a global network encompassing 44 countries and 700 research sites in a variety of ecosystems across the planet, more than 100 of which are located in coastal and marine environments (ILTER-CMS). While most of the ILTER-CMS were established after the year 2000, in some cases they date back to the early 1900s. At ILTER sites, a broad variety of abiotic and biotic variables are measured, which may feed into other global initiatives. The ILTER community has produced tools to harmonize and compare measurements and methods, allowing for data integration workflows and analyses between and within individual ILTER sites. After a brief historical overview of ILTER, with emphasis on the marine component, we analyze the potential contribution of the ILTER-CMS to global coastal and ocean observation, adopting the "Strength, Weakness, Opportunity and Threats (SWOT)" approach. We also identify ways in which the in situ parameters collected at ILTER sites currently fit within the Essential Ocean Variables framework (as proposed by the Framework for Ocean Observation recommendations) and provide insights on the use of new technology in long-term studies. Final recommendations point at the need to further develop observational activities at LTER sites and improve coordination among them and with external related initiatives in order to maximize their exploitation and address present and future challenges in ocean observations.
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22. |
- Nag, Somnath, et al.
(author)
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Observation of high-spin bands with large moments of inertia in Xe 124
- 2016
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In: Physical Review C - Nuclear Physics. - 0556-2813. ; 94:3
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Journal article (peer-reviewed)abstract
- High-spin states in Xe124 have been populated using the Se80(Ca48,4n) reaction at a beam energy of 207 MeV and high-multiplicity, γ-ray coincidence events were measured using the Gammasphere spectrometer. Six high-spin bands with large moments of inertia, similar to those observed in neighboring nuclei, have been observed. The experimental results are compared with calculations within the framework of the cranked Nilsson-Strutinsky model. It is suggested that the configurations of the bands involve excitations of protons across the Z=50 shell gap coupled to neutrons within the N=50-82 shell or excited across the N=82 shell closure.
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25. |
- Parenti, I., et al.
(author)
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Expanding the clinical spectrum of the "HDAC8-phenotype - implications for molecular diagnostics, counseling and risk prediction
- 2016
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In: Clinical Genetics. - : WILEY-BLACKWELL. - 0009-9163 .- 1399-0004. ; 89:5, s. 564-573
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Journal article (peer-reviewed)abstract
- Cornelia de Lange syndrome (CdLS) is a clinically heterogeneous disorder characterized by typical facial dysmorphism, cognitive impairment and multiple congenital anomalies. Approximately 75% of patients carry a variant in one of the five cohesin-related genes NIPBL, SMC1A, SMC3, RAD21 and HDAC8. Herein we report on the clinical and molecular characterization of 11 patients carrying 10 distinct variants in HDAC8. Given the high number of variants identified so far, we advise sequencing of HDAC8 as an indispensable part of the routine molecular diagnostic for patients with CdLS or CdLS-overlapping features. The phenotype of our patients is very broad, whereas males tend to be more severely affected than females, who instead often present with less canonical CdLS features. The extensive clinical variability observed in the heterozygous females might be at least partially associated with a completely skewed X-inactivation, observed in seven out of eight female patients. Our cohort also includes two affected siblings whose unaffected mother was found to be mosaic for the causative mutation inherited to both affected children. This further supports the urgent need for an integration of highly sensitive sequencing technology to allow an appropriate molecular diagnostic, genetic counseling and risk prediction.
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29. |
- Stefanova, E, et al.
(author)
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Longitudinal PET evaluation of cerebral glucose metabolism in rivastigmine treated patients with mild Alzheimer’s disease.
- 2006
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In: Journal of Neural Transmission. - : Springer Science and Business Media LLC. - 0300-9564 .- 1435-1463. ; 113:2, s. 205-218
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Journal article (peer-reviewed)abstract
- In this study 11 patients with mild Alzheimer’s disease (AD) were treated with the cholinesterase inhibitor rivastigmine (mean dose 8.6 ± 1.3’mg) for 12 months and underwent positron emission tomography (PET) studies of cerebral glucose metabolism (CMRglc) and neuropsychological testing at baseline and after 12 months. An untreated group of 10 AD patients served as control group. While the untreated AD patients showed a significant decline of CMRglc in the temporo-parietal and frontal cortical regions after 12 months follow-up the rivastigmine-treated patients showed no decline in CMRglc in corresponding cortical brain regions. Furthermore, a significant dose-related increase in CMRglc was recorded in the right frontal association region after 12 months rivastigmine treatment. A positive correlation was observed between changes in CMRglc and several cognitive tests in patients receiving higher doses (10.5–12’mg) of rivastigmine. These results suggest a stabilization effect of rivastigmine on CMRglc in mild AD patients receiving long-term rivastigmine treatment.
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