| 1. |
- Bravo, L, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 2. |
- Tabiri, S, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 9. |
- 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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| 10. |
- 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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| 16. |
- 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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| 17. |
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| 18. |
- 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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| 19. |
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| 20. |
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| 21. |
- 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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| 22. |
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| 23. |
- 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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| 24. |
- Agreus, L., et al.
(författare)
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Significant over- and misuse of PPIs
- 2021
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Ingår i: Lakartidningen. - 1652-7518. ; 118
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Tidskriftsartikel (refereegranskat)abstract
- PPIs (Proton-pump inhibitors) offers the best treatment for acid related diseases. The predominant indications for PPI prescription are: GERD eradication of H. pylori-infection in combination with antibiotics H. pylori-negative peptic ulcer healing of and prophylaxis against NSAID/COXIB--induced gastroduodenal lesions acid hypersecretory states such as Zollinger-Ellisons syndrome. The market for PPIs continues to expand in most countries. A significant over- and misuse of PPIs prevails in hospital care as well as in general practice. The predominant reasons for and mechanisms behind the over- and misuse of PPIs are well recognised. The most important consequences of this overprescription of PPIs are increasing medical costs and risk for long-term adverse side effects. Continued education and dedicated information are key factors to guide physicians, medical personnel and patients to adopt to generally accepted principles for and balanced use of PPIs.
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| 25. |
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| 26. |
- Andersson, Mats, 1954, et al.
(författare)
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Characteristics of timed barium esophagogram in newly diagnosed idiopathic achalasia: clinical and manometric correlates
- 2007
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Ingår i: Acta Radiol. - : SAGE Publications. - 0284-1851 .- 1600-0455. ; 48:1, s. 2-9
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: To describe timed barium esophagogram (TBE) characteristics in patients with newly diagnosed idiopathic achalasia, and to correlate these with clinical and manometric variables. MATERIAL AND METHODS: Forty-six consecutive patients with newly diagnosed achalasia were examined with TBE. Esophageal emptying was assessed using the height, area, and volume of the barium column. Subjective evaluation was performed according to a standardized protocol in all patients. Objective diagnostic evaluation included manometry. RESULTS: At the 1-min time point after contrast ingestion, the static parameters median height, maximum, and mean width of the barium column were 16.0, 4.4, and 3.3 cm, respectively. Emptying, expressed as volume of barium, showed significant inverse correlation with the resting and the maximal relaxing pressure of the lower esophageal sphincter (LES) (R = -0.34 and R = -0.54, respectively). There was also an inverse correlation between emptied volume at TBE and the duration of symptoms (R = -0.36), and between barium column width and postprandial chest pain (R = -0.44). CONCLUSION: All patients with newly diagnosed achalasia presented with delayed emptying of barium the esophagus at TBE. The estimated emptied volume of barium (related to the ingested volume) correlated inversely with the basal tone and the relaxation pressure of the LES. Including estimation of the volume of emptied barium at TBE resulted in closer correlation with manometric values of LES tone than using the parameters traditionally recorded.
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| 27. |
- 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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| 28. |
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| 29. |
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| 30. |
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| 32. |
- 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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| 33. |
- 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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| 34. |
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| 35. |
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| 36. |
- Liu, S., et al.
(författare)
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Control under Intermittent Network Partitions
- 2018
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Ingår i: 2018 IEEE International Conference on Communications (ICC). - : Institute of Electrical and Electronics Engineers (IEEE). - 9781538631805
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Konferensbidrag (refereegranskat)abstract
- We propose a novel distributed leader election algorithm to deal with the controller and control service availability issues in programmable networks, such as Software Defined Networks (SDN) or programmable Radio Access Network (RAN). Our approach can deal with a wide range of network failures, especially intermittent network partitions, where splitting and merging of a network repeatedly occur. In contrast to traditional leader election algorithms that mainly focus on the (eventual) consensus on one leader, the proposed algorithm aims at optimizing control service availability, stability and reducing the controller state synchronization effort during intermittent network partitioning situations. To this end, we design a new framework that enables dynamic leader election based on real-time estimates acquired from statistical monitoring. With this framework, the proposed leader election algorithm has the capability of being flexibly configured to achieve different optimization objectives, while adapting to various failure patterns. Compared with two existing algorithms, our approach can significantly reduce the synchronization overhead (up to 12x) due to controller state updates, and maintain up to twice more nodes under a controller.
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| 37. |
- 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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| 38. |
- Sorokowska, Agnieszka, et al.
(författare)
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Affective Interpersonal Touch in Close Relationships : A Cross-Cultural Perspective
- 2021
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Ingår i: Personality and Social Psychology Bulletin. - : Sage Publications. - 0146-1672 .- 1552-7433. ; 47:12, s. 1705-1721
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Tidskriftsartikel (refereegranskat)abstract
- Interpersonal touch behavior differs across cultures, yet no study to date has systematically tested for cultural variation in affective touch, nor examined the factors that might account for this variability. Here, over 14,000 individuals from 45 countries were asked whether they embraced, stroked, kissed, or hugged their partner, friends, and youngest child during the week preceding the study. We then examined a range of hypothesized individual-level factors (sex, age, parasitic history, conservatism, religiosity, and preferred interpersonal distance) and cultural-level factors (regional temperature, parasite stress, regional conservatism, collectivism, and religiosity) in predicting these affective-touching behaviors. Our results indicate that affective touch was most prevalent in relationships with partners and children, and its diversity was relatively higher in warmer, less conservative, and religious countries, and among younger, female, and liberal people. This research allows for a broad and integrated view of the bases of cross-cultural variability in affective touch.
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| 39. |
- 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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| 40. |
- 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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| 41. |
- Törnblom, H., et al.
(författare)
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Gastroesofageal refluxsjukdom – gammal bekant med nya ansikten : Management of patients with gastroesophageal reflux disease can be optimized
- 2022
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Ingår i: Läkartidningen. - 0023-7205. ; 119
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Tidskriftsartikel (refereegranskat)abstract
- Gastroesophageal reflux disease (GERD) often requires lifelong treatment to return to and maintain a normal quality of life. Proton pump inhibitors (PPIs) offer effective medical treatment and can be used for a long time with good safety margins. The diagnostic criteria for GERD must be strictly based on current guidelines and the need for maintained treatment must be regularly evaluated. When medical treatment fails (> 20%), the patient should be offered a consultation with a specialist in the field. Too many patients who are currently treated with PPI for suspected GERD ultimately require treatment with a completely different diagnosis in focus. The investigation and treatment options are several and well-defined in the event of PPI failure in patients with well documented GERD. The indications for surgical treatment are well established, but this treatment option is likely underused today.
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| 42. |
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| 43. |
- 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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| 44. |
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