| 1. |
- Tabiri, S, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 2. |
- Bravo, L, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 13. |
- Gretarsdottir, Solveig, et al.
(författare)
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Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 42:8, s. 71-692
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Tidskriftsartikel (refereegranskat)abstract
- We performed a genome-wide association study on 1,292 individuals with abdominal aortic aneurysms (AAAs) and 30,503 controls from Iceland and The Netherlands, with a follow-up of top markers in up to 3,267 individuals with AAAs and 7,451 controls. The A allele of rs7025486 on 9q33 was found to associate with AAA, with an odds ratio (OR) of 1.21 and P = 4.6 x 10(-10). In tests for association with other vascular diseases, we found that rs7025486[A] is associated with early onset myocardial infarction (OR = 1.18, P = 3.1 x 10(-5)), peripheral arterial disease (OR = 1.14, P = 3.9 x 10(-5)) and pulmonary embolism (OR = 1.20, P = 0.00030), but not with intracranial aneurysm or ischemic stroke. No association was observed between rs7025486[A] and common risk factors for arterial and venous diseases-that is, smoking, lipid levels, obesity, type 2 diabetes and hypertension. Rs7025486 is located within DAB2IP, which encodes an inhibitor of cell growth and survival.
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| 14. |
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| 15. |
- Hauptman, P. J., et al.
(författare)
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Clinical course of patients with hyponatremia and decompensated systolic heart failure and the effect of vasopressin receptor antagonism with tolvaptan
- 2013
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Ingår i: Journal of Cardiac Failure. - : Elsevier BV. - 1071-9164 .- 1532-8414. ; 19:6, s. 390-7
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Patients with decompensated heart failure, volume overload, and hyponatremia are challenging to manage. Relatively little has been documented regarding the clinical course of these patients during standard in-hospital management or with vasopressin antagonism. METHODS AND RESULTS: The Efficacy of Vasopressin Antagonism in Heart Failure Outcome Study With Tolvaptan database was examined to assess the short-term clinical course of patients hospitalized with heart failure and hyponatremia and the effect of tolvaptan on outcomes. In the placebo group, patients with hyponatremia (serum Na(+) <135mEq/L; n = 232), compared with those with normonatremia at baseline (n = 1785), had less relief of dyspnea despite receiving higher doses of diuretics (59.2% vs 69.2% improved; P < .01) and worse long-term outcomes. In the hyponatremia subgroup from the entire trial cohort (n = 475), tolvaptan was associated with greater likelihood of normalization of serum sodium than placebo (58% vs 20% and 64% vs 29% for day 1 and discharge, respectively; P < .001 for both comparisons), greater weight reduction at day 1 and discharge (0.7 kg and 0.8 kg differences, respectively; P < .001 and P = .008), and greater relief of dyspnea (P = .03). Among all hyponatremic patients, there was no effect of tolvaptan on long-term outcomes compared with placebo. In patients with pronounced hyponatremia (<130 mEq/L; n = 92), tolvaptan was associated with reduced cardiovascular morbidity and mortality after discharge (P = .04). CONCLUSIONS: In patients with decompensated heart failure and hyponatremia, standard therapy is associated with less weight loss and dyspnea relief, and unfavorable longer-term outcomes compared to those with normonatremia. Tolvaptan is associated with more favorable in-hospital effects and, possibly, long-term outcomes in patients with severe hyponatremia.
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| 16. |
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| 17. |
- Valadas, A., et al.
(författare)
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Management of dystonia in Europe : a survey of the European network for the study of the dystonia syndromes
- 2016
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Ingår i: European Journal of Neurology. - : Wiley-Blackwell. - 1351-5101 .- 1468-1331. ; 23:4, s. 772-779
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Tidskriftsartikel (refereegranskat)abstract
- Background and purposeDystonia is difficult to recognize due to its large phenomenological complexity. Thus, the use of experts in dystonia is essential for better recognition and management of dystonia syndromes (DS). Our aim was to document managing strategies, facilities and expertise available in various European countries in order to identify which measures should be implemented to improve the management of DS. MethodsA survey was conducted, funded by the Cooperation in Science and Technology, via the management committee of the European network for the study of DS, which is formed from representatives of the 24 countries involved. ResultsLack of specific training in dystonia by general neurologists, general practitioners as well as other allied health professionals was universal in all countries surveyed. Genetic testing for rare dystonia mutations is not readily available in a significant number of countries and neurophysiological studies are difficult to perform due to a lack of experts in this field of movement disorders. Tetrabenazine is only readily available for treatment of dystonia in half of the surveyed countries. Deep brain stimulation is available in three-quarters of the countries, but other surgical procedures are only available in one-quarter of countries. ConclusionsInternationally, collaboration in training, advanced diagnosis, treatment and research of DS and, locally, in each country the creation of multidisciplinary teams for the management of dystonia patients could provide the basis for improving all aspects of dystonia management across Europe.
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| 18. |
- Kiemeney, Lambertus A, et al.
(författare)
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A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer.
- 2010
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 42:5, s. 415-9
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Tidskriftsartikel (refereegranskat)abstract
- Previously, we reported germline DNA variants associated with risk of urinary bladder cancer (UBC) in Dutch and Icelandic subjects. Here we expanded the Icelandic sample set and tested the top 20 markers from the combined analysis in several European case-control sample sets, with a total of 4,739 cases and 45,549 controls. The T allele of rs798766 on 4p16.3 was found to associate with UBC (odds ratio = 1.24, P = 9.9 x 10(-12)). rs798766 is located in an intron of TACC3, 70 kb from FGFR3, which often harbors activating somatic mutations in low-grade, noninvasive UBC. Notably, rs798766[T] shows stronger association with low-grade and low-stage UBC than with more aggressive forms of the disease and is associated with higher risk of recurrence in low-grade stage Ta tumors. The frequency of rs798766[T] is higher in Ta tumors that carry an activating mutation in FGFR3 than in Ta tumors with wild-type FGFR3. Our results show a link between germline variants, somatic mutations of FGFR3 and risk of UBC.
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| 19. |
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| 20. |
- Balestrino, R, et al.
(författare)
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Applications of the European Parkinson's Disease Association sponsored Parkinson's Disease Composite Scale (PDCS)
- 2019
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Ingår i: NPJ Parkinson's disease. - : Springer Science and Business Media LLC. - 2373-8057. ; 5, s. 26-
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Tidskriftsartikel (refereegranskat)abstract
- This study was addressed to determine the presence of Parkinson disease (PD) manifestations, their distribution according to motor subtypes, and the relationships with health-related quality of life (QoL) using the recently validated European Parkinson’s Disease Association sponsored Parkinson’s Disease Composite Scale (PDCS). Frequency of symptoms was determined by the scores of items (present if >0). Using ROC analysis and Youden method, MDS-UPDRS motor subtypes were projected on the PDCS to achieve a comparable classification based on the PDCS scores. The same method was used to estimate severity levels from other measures in the study. The association between the PDCS and QoL (PDQ-39) was analyzed by correlation and multiple linear regression. The sample consisted of 776 PD patients. We found that the frequency of PD manifestations with PDCS and MDS-UPDRS were overlapping, the average difference between scales being 5.5% only. Using the MDS-UPDRS subtyping, 215 patients (27.7%) were assigned as Tremor Dominant (TD), 60 (7.7%) Indeterminate, and 501 (64.6%) Postural Instability and Gait Difficulty (PIGD) in this cohort. With this classification as criterion, the analogous PDCS-based ratio provided these cut-off values: TD subtype, ≥1.06; Indeterminate, <1.06 but >0.65; and PIGD, <0.65. The agreement between the two scales on this classification was substantial (87.6%; kappa = 0.69). PDCS total score cut-offs for PD severity were: 23/24 for mild/moderate and 41/42 for moderate/severe. Moderate to high correlations (r = 0.35–0.80) between PDCS and PDQ-39 were obtained, and the four PDCS domains showed a significant independent influence on QoL. The conclusions are: (1) the PDCS assessed the frequency of PD symptoms analogous to the MDS-UPDRS; (2) motor subtypes and severity levels can be determined with the PDCS; (3) a significant association between PDCS and QoL scores exists.
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| 21. |
- Ferreira, J. J., et al.
(författare)
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Summary of the recommendations of the EFNS/MDS-ES review on therapeutic management of Parkinson's disease
- 2013
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Ingår i: European Journal of Neurology. - : Wiley. - 1351-5101. ; 20:1, s. 5-15
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To summarize the 2010 EFNS/MDS-ES evidence-based treatment recommendations for the management of Parkinson's disease (PD). This summary includes the treatment recommendations for early and late PD. Methods: For the 2010 publication, a literature search was undertaken for articles published up to September 2009. For this summary, an additional literature search was undertaken up to December 2010. Classification of scientific evidence and the rating of recommendations were made according to the EFNS guidance. In cases where there was insufficient scientific evidence, a consensus statement ('good practice point') is made. Results and Conclusions:: For each clinical indication, a list of therapeutic interventions is provided, including classification of evidence.
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| 22. |
- Keller, Annika, et al.
(författare)
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Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:9, s. 1077-
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Tidskriftsartikel (refereegranskat)abstract
- Calcifications in the basal ganglia are a common incidental finding and are sometimes inherited as an autosomal dominant trait ( idiopathic basal ganglia calcification (IBGC)). Recently, mutations in the PDGFRB gene coding for the platelet-derived growth factor receptor beta (PDGF-R beta) were linked to IBGC. Here we identify six families of different ancestry with nonsense and missense mutations in the gene encoding PDGF-B, the main ligand for PDGF-R beta. We also show that mice carrying hypomorphic Pdgfb alleles develop brain calcifications that show age-related expansion. The occurrence of these calcium depositions depends on the loss of endothelial PDGF-B and correlates with the degree of pericyte and blood-brain barrier deficiency. Thus, our data present a clear link between Pdgfb mutations and brain calcifications in mice, as well as between PDGFB mutations and IBGC in humans.
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| 23. |
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| 24. |
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| 25. |
- Amundadottir, Laufey T., et al.
(författare)
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A common variant associated with prostate cancer in European and African populations
- 2006
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Ingår i: Nature Genetics. - DeCODE Genet, IS-101 Reykjavik, Iceland. Univ Iceland, Landspitali Hosp, Dept Pathol, IS-101 Reykjavik, Iceland. Univ Iceland, Landspitali Hosp, Dept Urol, IS-101 Reykjavik, Iceland. Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA. Orebro Univ Hosp, Dept Urol & Clin Med, Orebro, Sweden. Karolinska Inst, Dept Med Epidemiol & Biostat, SE-17177 Stockholm, Sweden. Univ Michigan, Dept Urol, Ann Arbor, MI 48109 USA. Northwestern Univ, Feinberg Sch Med, Dept Urol, Chicago, IL 60611 USA. Washington Univ, Sch Med, Dept Psychiat, St Louis, MO 63110 USA. Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA. Univ Michigan, Dept Internal Med, Ann Arbor, MI 48109 USA. : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 38:6, s. 652-658
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Tidskriftsartikel (refereegranskat)abstract
- With the increasing incidence of prostate cancer, identifying common genetic variants that confer risk of the disease is important. Here we report such a variant on chromosome 8q24, a region initially identified through a study of Icelandic families. Allele -8 of the microsatellite DG8S737 was associated with prostate cancer in three case-control series of European ancestry from Iceland, Sweden and the US. The estimated odds ratio (OR) of the allele is 1.62 (P = 2.7 x 10(-11)). About 19% of affected men and 13% of the general population carry at least one copy, yielding a population attributable risk (PAR) of approximately 8%. The association was also replicated in an African American case-control group with a similar OR, in which 41% of affected individuals and 30% of the population are carriers. This leads to a greater estimated PAR (16%) that may contribute to higher incidence of prostate cancer in African American men than in men of European ancestry.
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| 26. |
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| 27. |
- Bartlett, D. J., et al.
(författare)
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Constraints on dark matter annihilation and decay from the large-scale structure of the nearby Universe
- 2022
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Ingår i: Physical Review D. - 2470-0010 .- 2470-0029. ; 106:10
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Tidskriftsartikel (refereegranskat)abstract
- Decaying or annihilating dark matter particles could be detected through gamma-ray emission from the species they decay or annihilate into. This is usually done by modeling the flux from specific dark matter–rich objects such as the Milky Way halo, Local Group dwarfs, and nearby groups. However, these objects are expected to have significant emission from baryonic processes as well, and the analyses discard gamma-ray data over most of the sky. Here we construct full-sky templates for gamma-ray flux from the large-scale structure within ∼200 Mpc by means of a suite of constrained N-body simulations (csiborg) produced using the Bayesian Origin Reconstruction from Galaxies algorithm. Marginalizing over uncertainties in this reconstruction, small-scale structure, and parameters describing astrophysical contributions to the observed gamma-ray sky, we compare to observations from the Fermi Large Area Telescope to constrain dark matter annihilation cross sections and decay rates through a Markov chain Monte Carlo analysis. We rule out the thermal relic cross section for s-wave annihilation for all mχ≲7 GeV/c2 at 95% confidence if the annihilation produces gluons or quarks less massive than the bottom quark. We infer a contribution to the gamma-ray sky with the same spatial distribution as dark matter decay at 3.3σ. Although this could be due to dark matter decay via these channels with a decay rate Γ≈6×10−28 s−1, we find that a power-law spectrum of index p=−2.75+0.71−0.46, likely of baryonic origin, is preferred by the data.
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| 28. |
- Dragasevic, N T, et al.
(författare)
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Cortical excitability revealed by motor evoked potential, cortical silent period and conduction time in spinocerebellar ataxias type 1, type 2 and idiopathic sporadic cerebellar ataxia : a transcranial magnetic stimulation study
- 2006
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Ingår i: The Movement Disorder Society’s 10th International Congress of Parkinson’s Disease and Movement.
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Konferensbidrag (populärvet., debatt m.m.)abstract
- Autosomal dominant cerebellar ataxias are characterized by their underlying genetic defect and are referred to as spinocerebellar ataxias (SCAs 1-23). The clinical classification of the SCA has been difficult owing to variations and overlapping of the clinical signs. The aim of this study was to compare cortical motor evoked potential (MEP), central motor conduction time (CMCT) and cortical silent period (CSP) duration in SCA patients in Serbia, namely in genetically homogenous groups of ataxia patients with type 1, type 2 and IDCA (idiopathic sporadic cerebellar ataxia). We examined 29 patients, 16 with the diagnosis of SCA 1, 6 SCA 2 and 7 IDCA patients. Eight healthy control subjects were gender and age matched. Transcranial magnetic stimulation (TMS) was used to investigate parameters of cortical excitability such as: motor threshold (MT) and MEP, CSP and CMCT. MT was established at rest, MEP was calculated as the area in the rectified EMG recording. CSP was evoked by 30% suprathreshold stimulation while subjects activated FDI muscle with contraction of 30% of their MVC. CMCT was calculated as a difference between the shortest MEP latency after cortical and after cervical stimulation (in the region of C5-C6). Results show that MT was increased in all ataxia patient groups, compared to control subjects. CMCT has significant increase in SCA 1 patients. CSP in IDCA patients is significantly longer then in SCA 1, SCA 2 and control subjects, while no difference was found between SCA 1, SCA 2 and control. MEP duration was significantly increased in all ataxia groups compared to control in relaxed muscle. Due to the cerebellar influence on the cortico-spinal system through control of inhibitory cortical interneurons, could be assumed that different categories of ataxia patients have disturbed cerebellar inhibitory influence to the various degrees. It might be possible that SCA 1 prominent abnormalities in cortical excitability originate from expansion of damage from cerebellum to some other cerebellar and brain structures.
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| 29. |
- Dunagan, John, et al.
(författare)
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FUSE:Lightweight Guaranteed Distributed Failure Notification
- 2004
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Ingår i: Proceedings of the 6th Symposium on Operating Systems Design and Implementation (OSDI). - : Association for Computing Machinery (ACM).
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Konferensbidrag (refereegranskat)abstract
- FUSE is a lightweight failure notification service for building distributed systems. Distributed systems built with FUSE are guaranteed that failure notifications never fail. Whenever a failure notification is triggered, all live members of the FUSE group will hear a notification within a bounded period of time, irrespective of node or communication failures. In contrast to previous work on failure detection, the responsibility for deciding that afailure has occurred is shared between the FUSE service and the distributed application. This allows applications to implement their own definitions of failure. Our experience building a scalable distributed event delivery system on an overlay network has convinced us of the usefulness of this service. Our results demonstrate that the network costs of each FUSE group can be small; in particular, our overlay network implementation requires no additional liveness-verifying ping traffic beyond that already needed to maintain the overlay, making the steady state network load independent of the number of active FUSE groups.
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| 30. |
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| 32. |
- Guisado-Clavero, M., et al.
(författare)
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The role of primary health care in long-term care facilities during the COVID-19 pandemic in 30 European countries: a retrospective descriptive study (Eurodata study)
- 2023
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Ingår i: Primary Health Care Research and Development. - 1463-4236. ; 24
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Tidskriftsartikel (refereegranskat)abstract
- Background and aim:Primary health care (PHC) supported long-term care facilities (LTCFs) in attending COVID-19 patients. The aim of this study is to describe the role of PHC in LTCFs in Europe during the early phase of the pandemic.Methods:Retrospective descriptive study from 30 European countries using data from September 2020 collected with an ad hoc semi-structured questionnaire. Related variables are SARS-CoV-2 testing, contact tracing, follow-up, additional testing, and patient care.Results:Twenty-six out of the 30 European countries had PHC involvement in LTCFs during the COVID-19 pandemic. PHC participated in initial medical care in 22 countries, while, in 15, PHC was responsible for SARS-CoV-2 test along with other institutions. Supervision of individuals in isolation was carried out mostly by LTCF staff, but physical examination or symptom's follow-up was performed mainly by PHC.Conclusion:PHC has participated in COVID-19 pandemic assistance in LTCFs in coordination with LTCF staff, public health officers, and hospitals.
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| 33. |
- Guisado-Clavero, Marina, et al.
(författare)
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The role of primary health care in long-term care facilities during the COVID-19 pandemic in 30 European countries : A retrospective descriptive study (Eurodata study)
- 2023
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Ingår i: Primary Health Care Research and Development. - 1463-4236. ; 24
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Tidskriftsartikel (refereegranskat)abstract
- Background and aim: Primary health care (PHC) supported long-term care facilities (LTCFs) in attending COVID-19 patients. The aim of this study is to describe the role of PHC in LTCFs in Europe during the early phase of the pandemic. Methods: Retrospective descriptive study from 30 European countries using data from September 2020 collected with an ad hoc semi-structured questionnaire. Related variables are SARS-CoV-2 testing, contact tracing, follow-up, additional testing, and patient care. Results: Twenty-six out of the 30 European countries had PHC involvement in LTCFs during the COVID-19 pandemic. PHC participated in initial medical care in 22 countries, while, in 15, PHC was responsible for SARS-CoV-2 test along with other institutions. Supervision of individuals in isolation was carried out mostly by LTCF staff, but physical examination or symptom's follow-up was performed mainly by PHC. Conclusion: PHC has participated in COVID-19 pandemic assistance in LTCFs in coordination with LTCF staff, public health officers, and hospitals.
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| 34. |
- Isaguliants, M, et al.
(författare)
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Cellular Immune Response Induced by DNA Immunization of Mice with Drug Resistant Integrases of HIV-1 Clade A Offers Partial Protection against Growth and Metastatic Activity of Integrase-Expressing Adenocarcinoma Cells
- 2021
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Ingår i: Microorganisms. - : MDPI AG. - 2076-2607. ; 9:6
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Tidskriftsartikel (refereegranskat)abstract
- Therapeutic DNA-vaccination against drug-resistant HIV-1 may hinder emergence and spread of drug-resistant HIV-1, allowing for longer successful antiretroviral treatment (ART) up-to relief of ART. We designed DNA-vaccines against drug-resistant HIV-1 based on consensus clade A integrase (IN) resistant to raltegravir: IN_in_r1 (L74M/E92Q/V151I/N155H/G163R) or IN_in_r2 (E138K/G140S/Q148K) carrying D64V abrogating IN activity. INs, overexpressed in mammalian cells from synthetic genes, were assessed for stability, route of proteolytic degradation, and ability to induce oxidative stress. Both were found safe in immunotoxicity tests in mice, with no inherent carcinogenicity: their expression did not enhance tumorigenic or metastatic potential of adenocarcinoma 4T1 cells. DNA-immunization of mice with INs induced potent multicytokine T-cell response mainly against aa 209–239, and moderate IgG response cross-recognizing diverse IN variants. DNA-immunization with IN_in_r1 protected 60% of mice from challenge with 4Tlluc2 cells expressing non-mutated IN, while DNA-immunization with IN_in_r2 protected only 20% of mice, although tumor cells expressed IN matching the immunogen. Tumor size inversely correlated with IN-specific IFN-γ/IL-2 T-cell response. IN-expressing tumors displayed compromised metastatic activity restricted to lungs with reduced metastases size. Protective potential of IN immunogens relied on their immunogenicity for CD8+ T-cells, dependent on proteasomal processing and low level of oxidative stress.
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| 35. |
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| 36. |
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| 37. |
- Kostic, Aleksandar D., et al.
(författare)
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The dynamics of the human infant gut microbiome in development and in progression toward type 1 diabetes
- 2015
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Ingår i: Cell Host and Microbe. - : Cell Press. - 1931-3128 .- 1934-6069. ; 17:2, s. 260-273
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Tidskriftsartikel (refereegranskat)abstract
- Colonization of the fetal and infant gut microbiome results in dynamic changes in diversity, which can impact disease susceptibility. To examine the relationship between human gut microbiome dynamics throughout infancy and type 1 diabetes (T1D), we examined a cohort of 33 infants genetically predisposed to T1D. Modeling trajectories of microbial abundances through infancy revealed a subset of microbial relationships shared across most subjects. Although strain composition of a given species was highly variable between individuals, it was stable within individuals throughout infancy. Metabolic composition and metabolic pathway abundance remained constant across time. A marked drop in alpha-diversity was observed in T1D progressors in the time window between seroconversion and T1D diagnosis, accompanied by spikes in inflammation-favoring organisms, gene functions, and serum and stool metabolites. This work identifies trends in the development of the human infant gut microbiome along with specific alterations that precede T1D onset and distinguish T1D progressors from nonprogressors.
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| 38. |
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| 39. |
- Muller, S, et al.
(författare)
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Target 2035 - update on the quest for a probe for every protein
- 2022
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Ingår i: RSC medicinal chemistry. - : Royal Society of Chemistry (RSC). - 2632-8682. ; 13:1, s. 13-21
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Twenty years after the publication of the first draft of the human genome, our knowledge of the human proteome is still fragmented. Target 2035 aims to develop a pharmacological modulator for every protein in the human proteome to fill this gap.
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| 40. |
- Radovanovic, Sasa, et al.
(författare)
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Disturbed cerebellar input affects consecutive movement performance : Comparison of healthy subjects and patients with cerebellar ataxia
- 2005
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Ingår i: The 16th International Congress on Parkinson's Disease and Related Disorders. ; , s. 245-
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Konferensbidrag (refereegranskat)abstract
- Objective The cerebellum should be involved in providing temporal computations in motor production. The inability to compute time differences would affect time-related tasks. However, the cerebellar role in proprioception to control precise movement performance is still contradictory. The aim of the study was to investigate the characteristics of performance of the rapid terminal movements in patients with cerebellar ataxia. Ataxia of these patients had been identified as "pure" spinocerebellar ataxia. Method Movement performance was compared in six patients and six healthy subjects. Movements were performed from the initial to the target position, with the movement length of 40 degree in the elbow flexion. First, motor threshold of the motor cortex was determined. TMS was then applied with the double-cone coil right of the inion, in the two experimental conditions: stimulus was applied with the strength of 5% below the established motor threshold, at the moment of computer generated tone command to start the flexion movement, or stimulus was applied 20 ms before the GO signal, with the same strength. Two additional conditions were also tested: TM stimulus was applied with the strength of 30% above the motor threshold at the moment of movement start, and at 20 ms before movement start. Results Results point toward extension of the performed movement when stimulus was applied 20 ms before the movement start. Patients show tendency to lengthen their movements, and therefore accuracy of the movements deteriorate. Length of the movements was also prolonged in the conditions where stronger stimulus was applied, but accuracy was less affected with increase in the stimulus strength. Conclusion Accuracy of the movements was affected when the stimulus was applied in the phase of the movement preparation. Disturbance of the preparatory processes to establish correct movement pattern appear to be important even in the patients with pure cerebellar ataxia.
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| 41. |
- Radovanovic, Sasa, et al.
(författare)
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Effects of transcranial magnetic stimulation of the cerebellum on performance of consecutive rapid movements in patients with idiopathic sporadic cerebellar ataxia and healthy subjects
- 2006
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Ingår i: The Movement Disorder Society’s 10th International Congress of Parkinson’s Disease and Movement.
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Konferensbidrag (populärvet., debatt m.m.)abstract
- It is known that cerebellum influences the action of the motor system. The cerebellum may exert a facilitatory influence in the motor cortex, and should be involved in temporal computations in movement performance. The inability to compute time differences would affect time-related tasks. However, the cerebellar role to control precise movement performance is contradictory. Furthermore, facilitatory effect of cerebellum might be decreased in cerebellar degeneration. The aim of the study was to investigate the performance of the rapid movements in patients with “pure” cerebellar ataxia. Movement performance was compared in 13 patients and 8 healthy subjects. Movements were performed from the initial to the target position, with the movement length of 40 deg in the elbow flexion. Motor threshold (MT) of the motor cortex was determined and TMS was then applied right of the inion, in two conditions: With the strength of 5% below the MT, at the moment of command to start the flexion movement, and with the same strength 20 ms before the movement start. Two additional conditions were also tested: TM stimulus was applied with the strength of 30% above the MT at the moment of movement start, and at 20 ms before movement start. Patients perform significantly longer movements then healthy subjects, and accuracy of the movements deteriorates. Length of the movements was also prolonged in the conditions where stronger stimulus was applied. Accuracy of the movements in patients was not different when the stimulus was applied in the phase of the movement preparation, compared in moment 0 and -20 ms. Same was true for healthy subjects in both conditions - stimulus below and above MT. Results that differences in disturbance timing and strength have no clear effects might speak for preprogrammed characteristics of rapid movements in both healthy subjects and ataxia patients, where sensory input is not of primary importance. Deficits in cerebellar ataxia for the movement length may be attributable to improper processing of motor command and/or sensory information.
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| 42. |
- Rangelow, I. W., et al.
(författare)
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Piezoresistive and self-actuated 128-cantilever arrays for nanotechnology applications
- 2007
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Ingår i: Microelectronic Engineering. - : Elsevier BV. - 0167-9317 .- 1873-5568. ; 84:5-8, s. 1260-1264
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Tidskriftsartikel (refereegranskat)abstract
- A major limitation for future nanotechnology, particularly for bottom-up manufacturing is the non-availability of 2-dimensional massively parallel probe arrays. Scanning proximity probes are uniquely powerful tools for analysis, manipulation and bottom-up synthesis: they are capable of addressing and engineering surfaces at the atomic level and are the key to unlocking the full potential of Nanotechnology. Generic massively parallel intelligent cantilever-probe platforms is demonstrated through a number of existing and ground-breaking techniques. A packaged VLSI NEMS-chip (Very Large Scale Integrated Nano Electro Mechanical System) incorporating 128 proximal probes, fully addressable with control and readout interconnects and advanced software will be presented.
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| 43. |
- Sorokowski, Piotr, et al.
(författare)
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Universality of the Triangular Theory of Love : Adaptation and Psychometric Properties of the Triangular Love Scale in 25 Countries
- 2021
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Ingår i: Journal of Sex Research. - : Informa UK Limited. - 0022-4499 .- 1559-8519. ; 58:1, s. 106-115
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Tidskriftsartikel (refereegranskat)abstract
- The Triangular Theory of Love (measured with Sternberg's Triangular Love Scale - STLS) is a prominent theoretical concept in empirical research on love. To expand the culturally homogeneous body of previous psychometric research regarding the STLS, we conducted a large-scale cross-cultural study with the use of this scale. In total, we examined more than 11,000 respondents, but as a result of applied exclusion criteria, the final analyses were based on a sample of 7332 participants from 25 countries (from all inhabited continents). We tested configural invariance, metric invariance, and scalar invariance, all of which confirmed the cultural universality of the theoretical construct of love analyzed in our study. We also observed that levels of love components differ depending on relationship duration, following the dynamics suggested in the Triangular Theory of Love. Supplementary files with all our data, including results on love intensity across different countries along with STLS versions adapted in a few dozen languages, will further enable more extensive research on the Triangular Theory of Love.
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| 44. |
- Stacey, Simon N, et al.
(författare)
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Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus.
- 2010
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Ingår i: PLoS genetics. - : Public Library of Science. - 1553-7404. ; 6:7, s. e1001029-
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Tidskriftsartikel (refereegranskat)abstract
- We used an approach that we term ancestry-shift refinement mapping to investigate an association, originally discovered in a GWAS of a Chinese population, between rs2046210[T] and breast cancer susceptibility. The locus is on 6q25.1 in proximity to the C6orf97 and estrogen receptor alpha (ESR1) genes. We identified a panel of SNPs that are correlated with rs2046210 in Chinese, but not necessarily so in other ancestral populations, and genotyped them in breast cancer case:control samples of Asian, European, and African origin, a total of 10,176 cases and 13,286 controls. We found that rs2046210[T] does not confer substantial risk of breast cancer in Europeans and Africans (OR = 1.04, P = 0.099, and OR = 0.98, P = 0.77, respectively). Rather, in those ancestries, an association signal arises from a group of less common SNPs typified by rs9397435. The rs9397435[G] allele was found to confer risk of breast cancer in European (OR = 1.15, P = 1.2 x 10(-3)), African (OR = 1.35, P = 0.014), and Asian (OR = 1.23, P = 2.9 x 10(-4)) population samples. Combined over all ancestries, the OR was 1.19 (P = 3.9 x 10(-7)), was without significant heterogeneity between ancestries (P(het) = 0.36) and the SNP fully accounted for the association signal in each ancestry. Haplotypes bearing rs9397435[G] are well tagged by rs2046210[T] only in Asians. The rs9397435[G] allele showed associations with both estrogen receptor positive and estrogen receptor negative breast cancer. Using early-draft data from the 1,000 Genomes project, we found that the risk allele of a novel SNP (rs77275268), which is closely correlated with rs9397435, disrupts a partially methylated CpG sequence within a known CTCF binding site. These studies demonstrate that shifting the analysis among ancestral populations can provide valuable resolution in association mapping.
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| 45. |
- Tamás, Gertrúd, et al.
(författare)
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Lack of Accredited Clinical Training in Movement Disorders in Europe, Egypt, and Tunisia
- 2020
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Ingår i: Journal of Parkinson's Disease. - 1877-7171. ; 10:4, s. 1833-1843
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Tidskriftsartikel (refereegranskat)abstract
- Background: Little information is available on the official postgraduate and subspecialty training programs in movement disorders (MD) in Europe and North Africa. Objective: To survey the accessible MD clinical training in these regions. Methods: We designed a survey on clinical training in MD in different medical fields, at postgraduate and specialized levels. We assessed the characteristics of the participants and the facilities for MD care in their respective countries. We examined whether there are structured, or even accredited postgraduate, or subspecialty MD training programs in neurology, neurosurgery, internal medicine, geriatrics, neuroradiology, neuropediatrics, and general practice. Participants also shared their suggestions and needs. Results: The survey was completed in 31/49 countries. Structured postgraduate MD programs in neurology exist in 20 countries; structured neurology subspecialty training exists in 14 countries and is being developed in two additional countries. Certified neurology subspecialty training was reported to exist in 7 countries. Recommended reading lists, printed books, and other materials are the most popular educational tools, while courses, lectures, webinars, and case presentations are the most popular learning formats. Mandatory activities and skills to be certified were not defined in 15/31 countries. Most participants expressed their need for a mandatory postgraduate MD program and for certified MD sub-specialization programs in neurology. Conclusion: Certified postgraduate and subspecialty training exists only in a minority of European countries and was not found in the surveyed Egypt and Tunisia. MD training should be improved in many countries.
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