| 1. |
- Hedman, Linnea, et al.
(författare)
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Receiving support to quit smoking and quit attempts among smokers with and without smoking related diseases : Findings from the EUREST-PLUS ITC Europe Surveys
- 2018
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Ingår i: Tobacco Induced Diseases. - Heraklion : European Publishing. - 1617-9625. ; 16
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Tidskriftsartikel (refereegranskat)abstract
- INTRODUCTION Having a chronic disease either caused or worsened by tobacco smoking does not always translate into quitting smoking. Although smoking cessation is one of the most cost-effective medical interventions, it remains poorly implemented in healthcare settings. The aim was to examine whether smokers with chronic and respiratory diseases were more likely to receive support to quit smoking by a healthcare provider or make a quit attempt than smokers without these diseases.METHODS This population-based study included a sample of 6011 adult smokers in six European countries. The participants were interviewed face-to-face and asked questions on sociodemographic characteristics, current diagnoses for chronic diseases, healthcare visits in the last 12 months and, if so, whether they had received any support to quit smoking. Questions on smoking behavior included nicotine dependence, motivation to quit smoking and quit attempts in the last 12 months. The results are presented as weighted percentages with 95% confidence intervals (CI) and as adjusted odds ratios with 95% CI based on logistic regression analyses.RESULTS Smokers with chronic respiratory disease, those aged 55 years and older, as well as those with one or more chronic diseases were more likely to receive smoking cessation advice from a healthcare professional. Making a quit attempt in the last year was related to younger age, high educational level, higher motivation to quit, lower nicotine dependence and having received advice to quit from a healthcare professional but not with having chronic diseases. There were significant differences between countries with smokers in Romania consistently reporting more support to quit as well as quit attempts.CONCLUSIONS Although smokers with respiratory disease did indeed receive smoking cessation support more often than smokers without disease, many smokers did not receive any advice or support to quit during a healthcare visit.
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| 2. |
- Ahlström, Christer, et al.
(författare)
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Dangerous use of mobile phones and other communication devices while driving : A toolbox of counter-measures
- 2013
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Ingår i: Proceedings of the 16th International Conference Road Safety on Four Continents. - Linköping : Statens väg- och transportforskningsinstitut.
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- The use of mobile phone and similar devices while driving has been a topic of discussion and research for several years. It is now an established fact that driving performance is deteriorated due to distraction but no clear conclusions can yet be drawn concerning influence on crash rates. Better studies on this relationship is needed. Most countries in Europe and many countries elsewhere have introduced different types of bans for handheld devices. Sweden has, however, no such bans. VTI was commissioned by the Swedish Government to outline possible means to reduce the dangerous usage of mobile phones and other communication devices while driving as alternatives to banning. This task was a result of a previous VTI-state-of-the-art review of research on mobile phone and other communication device usage while driving. One of the findings in the review was that bans on handheld phones did not appear to reduce the number of crashes.Eighteen different countermeasures in three main areas were suggested. (1) Technical solutions such as countermeasures directed towards the infrastructure, the vehicle and the communication device. (2) Education and information, describing different ways to increase knowledge and understanding among stakeholders and different driver categories. (3) Different possibilities for how society, industry and organisations can influence the behaviour of individuals, via policies, rules, recommendations and incentives. Our conclusion is that a combination of different countermeasures is needed – where education and information to the drivers are combined with support and incentives for a safe usage of different communication devices.
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| 3. |
- Aldenbratt, Annika, et al.
(författare)
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Estimation of kidney function in patients with primary neuromuscular diseases : is serum cystatin C a better marker of kidney function than creatinine?
- 2021
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Ingår i: JN. Journal of Nephrology. - : Springer Science and Business Media LLC. - 1121-8428 .- 1724-6059. ; 35:2, s. 493-503
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Using serum creatinine leads to an overestimation of kidney function in patients with primary neuromuscular disorders, and reduced kidney function may remain undetected. Cystatin C (CysC) could provide a better estimation.AIM: To evaluate the precision, accuracy, and bias of two creatinine-, one cystatin C-based and one combined equation to estimate glomerular filtration rate (eGFR) in patients with primary neuromuscular disease.PATIENTS AND METHODS: Of the 418 patients initially identified at the out-patient clinic, data on kidney function was obtained for 145 adult patients (age 46 ± 14 years, BMI 26 ± 6 kg/m2) with primary neuromuscular disease. Kidney function was measured by iohexol clearance, and blood samples for serum creatinine and CysC were drawn simultaneously. Bias was defined as the mean difference between eGFR and measured iohexol clearance, and accuracy as the proportion of eGFRs within ± 10% (P10) of measured clearance.RESULTS: Kidney function (iohexol clearance) was 81 ± 19 (38-134) ml/min/1.73m2. All equations overestimated kidney function by 22-60 ml/min/1.73m2. eGFR CysC had the lowest bias overall 22 (95% CI 20-26) ml/min/1.73m2 also at all levels of kidney function we evaluated (at 30-59 ml/min/1.73m2 bias was 27 (95% CI 21-35), at 60-89 it was 25 (95% CI 20-28) and at ≥ 90 it was 12 (95% CI 7-22)). eGFR CysC also had the best accuracy in patients with reduced kidney function (P10 was 5.9% at 30-59 ml/min/1.73m2).CONCLUSIONS: Cystatin C-based estimations of kidney function performed better than creatinine-based ones in patients with primary neuromuscular disease, but most importantly, all evaluated equations overestimated kidney function, especially in patients with reduced kidney function. Therefore, kidney function should be measured by gold-standard methods when precision and accuracy are needed.
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| 4. |
- Aldenbratt, Annika, et al.
(författare)
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Reduced renal function in patients with Myotonic Dystrophy type 1 and the association to CTG expansion and other potential risk factors for chronic kidney disease
- 2017
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Ingår i: Neuromuscular Disorders. - : Elsevier BV. - 0960-8966 .- 1873-2364. ; 27:11, s. 1038-1042
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Tidskriftsartikel (refereegranskat)abstract
- Myotonic dystrophy type 1 (DM1) affects several organs. Disease severity and age at onset are correlated to the CTG repeat expansion. The aim of this study was to assess renal function and the association to numbers of CTG repeat expansion in patients with DM1. Ninety-eight patients with DM1 were included. Glomerular filtration rate (measured GFR) was measured using iohexol clearance. Data on CTG repeats were available in 83/98 (85%) patients. The overall mGFR was 74 (16) ml/min/1.73 m(2) (range 38-134). Sixty-four patients (69%) had a mild and sixteen patients (17%) a moderate decrease in renal function (mGFR 60-89 and 30-59 ml/min/1.73 m(2), respectively). No correlations were found between CTG repeats and mGFR (r = 0.10, p = 0.4) or between CTG repeats and serum cystatin C (r = 0.12, p = 0.29). CTG repeats was positively correlated to creatinine-based estimates of GFR (eGFR) (modified diet in renal disease r = 0.49, p < 0.001, CKD-EPI creatinine equation; r = 0.50, p < 0.001), but analyses using Structural Equation Modeling showed no correlation. The correlation was explained by an indirect effect via serum creatinine and skeletal muscle mass index. In conclusion, patients with DM1 seem to have a slight decrease in renal function but there is no association between renal function and the number of CTG repeats, a marker of disease severity.
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| 5. |
- Ansari, Daniel, et al.
(författare)
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Surveillance after surgery for pancreatic cancer : a global scoping review of guidelines and a nordic survey of contemporary practice
- 2024
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Ingår i: Scandinavian Journal of Gastroenterology. - : Taylor & Francis. - 0036-5521 .- 1502-7708.
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Forskningsöversikt (refereegranskat)abstract
- Objectives: Most patients with pancreatic cancer who have undergone surgical resection eventually develop disease recurrence. This study aimed to investigate whether there is evidence to support routine surveillance after pancreatic cancer surgery, with a secondary aim of analyzing the implementation of surveillance strategies in the Nordic countries.Materials and Methods: A scoping review was conducted to identify clinical practice guidelines globally and research studies relating to surveillance after pancreatic cancer resection. This was followed by a survey among 20 pancreatic units from four Nordic countries to assess their current practice of follow-up for operated patients.Results: Altogether 16 clinical practice guidelines and 17 research studies were included. The guidelines provided inconsistent recommendations regarding postoperative surveillance of pancreatic cancer. The clinical research data were mainly based on retrospective cohort studies with low level of evidence and lead-time bias was not addressed. Active surveillance was recommended in Sweden and Denmark, but not in Norway beyond the post-operative/adjuvant period. Finland had no national recommendations for surveillance. The Nordic survey revealed a wide variation in reported practice among the different units. About 75% (15 of 20 units) performed routine postoperative surveillance. Routine CA 19-9 testing was used by 80% and routine CT by 67% as part of surveillance. About 73% of centers continued follow-up until 5 years postoperatively.Conclusion: Evidence for routine long-term (i.e. 5 years) surveillance after pancreatic cancer surgery remains limited. Most pancreatic units in the Nordic countries conduct regular follow-up, but protocols vary.
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| 6. |
- Arkblad, Eva L, et al.
(författare)
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Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy
- 2006
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Ingår i: Neuromuscular disorders : NMD. - : Elsevier BV. - 0960-8966 .- 1873-2364. ; 16:12, s. 830-8
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Tidskriftsartikel (refereegranskat)abstract
- Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by decreased levels of survival motor neuron protein (SMN). In the majority of cases, this decrease is due to absence of the SMN1 gene. Multiplex ligation-dependent probe amplification (MLPA) is a modern quantitative molecular method. Applied in SMA cases, it improves diagnostics by simultaneously identifying the number of copies of several target sequences in the SMN1 gene and in nearby genes. Using MLPA in clinical diagnostics, we have identified a previously unreported, partial deletion of SMN1 (exons 1-6) in two apparently unrelated Swedish families. This mutation would not have been detected by conventional diagnostic methods. This paper illustrates the broad clinical and genetic spectrum of SMA and includes reports of MLPA results and clinical descriptions of a patient with homozygous absence of SMN1 and only one SMN2 (prenatal onset SMA type 1), an asymptomatic woman with five SMN2 (lacking SMN1) and representative patients with SMA types 1, 2 and 3.
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| 7. |
- Berg, Elisabeth Gräslund, et al.
(författare)
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Praktiker som gör skillnad : Om den verb-inriktade metoden
- 2013
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Ingår i: Historisk Tidskrift. - 0345-469X .- 2002-4827. ; 133:3, s. 335-354
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Tidskriftsartikel (refereegranskat)abstract
- This article discusses the so-called verb-oriented method and its role in the research project Gender and Work in early modern Sweden (GaW), which is based at Uppsala University. It provides a presentation of the GaW-database, which has been designed to allow analysis according to the verb-method. Finally, the article points out that this method can be combined with a number of different theoretical approaches as long as the focus is on practices. It is therefore compatible with the approaches of e.g., Judith Butler, Michel de Certeau, and Amartya Sen. Work is defined as "time-use with the purpose of making a living" and the article discusses why data on time-use, or actual work activities, are better suited for research into early modern Swedish working life than other types of data. It shows that activities are usually described in the sources by verb-phrases, and explains how and from what sources verb-phrases are collected and analyzed within the project. In order to allow for generalizations the verb-method presupposes large amounts of data. This is the rationale for the GaW-database, which at present includes around 5000 verb-phrases and 75000 data posts.
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| 8. |
- Björkman, Kristoffer, et al.
(författare)
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Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study.
- 2021
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Ingår i: Journal of Medical Genetics. - : BMJ. - 0022-2593 .- 1468-6244. ; 60:1, s. 65-73
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Tidskriftsartikel (refereegranskat)abstract
- Background Large-scale mitochondrial DNA deletions (LMD) are a common genetic cause of mitochondrial disease and give rise to a wide range of clinical features. Lack of longitudinal data means the natural history remains unclear. This study was undertaken to describe the clinical spectrum in a large cohort of patients with paediatric disease onset. Methods A retrospective multicentre study was performed in patients with clinical onset <16 years of age, diagnosed and followed in seven European mitochondrial disease centres. Results A total of 80 patients were included. The average age at disease onset and at last examination was 10 and 31 years, respectively. The median time from disease onset to death was 11.5 years. Pearson syndrome was present in 21%, Kearns-Sayre syndrome spectrum disorder in 50% and progressive external ophthalmoplegia in 29% of patients. Haematological abnormalities were the hallmark of the disease in preschool children, while the most common presentations in older patients were ptosis and external ophthalmoplegia. Skeletal muscle involvement was found in 65% and exercise intolerance in 25% of the patients. Central nervous system involvement was frequent, with variable presence of ataxia (40%), cognitive involvement (36%) and stroke-like episodes (9%). Other common features were pigmentary retinopathy (46%), short stature (42%), hearing impairment (39%), cardiac disease (39%), diabetes mellitus (25%) and renal disease (19%). Conclusion Our study provides new insights into the phenotypic spectrum of childhood-onset, LMD-associated syndromes. We found a wider spectrum of more prevalent multisystem involvement compared with previous studies, most likely related to a longer time of follow-up.
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| 9. |
- Cahlin, Birgitta Johansson, 1959, et al.
(författare)
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Cerebral palsy and bruxism: Effects of botulinum toxin injections—A randomized controlled trial
- 2019
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Ingår i: Clinical and Experimental Dental Research. - : Wiley. - 2057-4347. ; 5:5, s. 460-468
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Cerebral palsy (CP) includes disturbances in muscular control caused by perinatal brain injury. Masticatory muscle involvement hampers functions such as chewing and talking. Bruxism and temporomandibular disorders are overrepresented. Neuromuscular blocks with botulinum toxin type A (BTX-A) may alleviate problems due to muscular hyperactivity. The aim was to evaluate masticatory muscle BTX-A injections in subjects with CP and bruxism. Methods: A prospective, parallel, randomized, placebo-controlled, and double-blind trial in 12 patients with CP was performed. End points were alterations in objective and subjective oral capacities after two BTX-A or corresponding placebo injections. Matched, healthy references were also evaluated. Results: The reference group demonstrated stronger and more efficient oral functions compared with the CP group. Subjective and objective oral capacities appeared to vary considerably between CP patients and also over time in this patient group and were poorly correlated. No significant effect of BTX-A compared with placebo on outcome variables was observed at group level, but continued treatment with BTX-A was requested by the majority of the patients. Conclusion: The evidence is unable to support the use of BTX-A for the treatment of affected masticatory muscles in CP, but the findings are inconclusive in certain respects. Larger, more homogeneous groups of CP patients need to be evaluated in future trials. ©2019 The Authors. Clinical and Experimental Dental Research published by John Wiley & Sons Ltd.
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| 10. |
- Cinque, Elena, et al.
(författare)
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Toward a Standard-Compliant Implementation for Consensus Algorithms in Vehicular Networks
- 2018
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Ingår i: IEEE Vehicular Technology Conference. - 1550-2252. ; 2018-August
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Konferensbidrag (refereegranskat)abstract
- Cooperative Intelligent Transport System (C-ITS) applications require a continuous exchange of information between road users and roadside infrastructures. In this regard, distributed consensus algorithms can play an essential role in the definition of the information exchange rules between an ITS station and its neighbors. Although the consensus approach for networked systems is well-established, the efficiency of consensus methods under real-world vehicular communication constraints is largely unknown. This paper provides an ITS standard-compliant framework for analysis of consensus algorithms in vehicular networks with an emphasis on the role of robustness to changes in network topology in highly dynamic and dense environments. Our simulations reveal that in regular traffic conditions, the implemented consensus algorithm is able to achieve good performances in terms of both convergence time and needed consensus iterations. However, numerical results demonstrate that under dense and high-mobility traffic conditions the frequent exchange of large amounts of range information increases the Channel Busy Ratio (CBR) of the vehicular network and reduces the effectiveness of the algorithm as well.
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| 11. |
- Dahlbom, Kathe, et al.
(författare)
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Association between muscle strength, histopathology, and magnetic resonance imaging in sporadic inclusion body myositis
- 2019
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Ingår i: Acta Neurologica Scandinavica. - : Hindawi Limited. - 0001-6314. ; 139:2, s. 177-182
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: Inclusion body myositis is characterized by inflammatory and degenerative changes, but the temporal relation of these events is unknown. Materials and Methods: In nineteen patients with inclusion body myositis, muscle strength was correlated with inflammatory and degenerative findings on magnetic resonance imaging (MRI) and in muscle biopsies in three different muscles (tibialis anterior, vastus lateralis, and biceps brachii). Muscle strength, measured with a handheld dynamometer, was described as percentage of muscle strength in age- and sex-matched normal individuals. The muscles were categorized as the strongest, the intermediate, and the weakest muscle in each individual. T1-weighted sequences on MRI were used to evaluate the degree of fatty infiltration and muscle atrophy and STIR sequences to evaluate edematous changes. Results: The vastus lateralis, which in general was the weakest muscle, was significantly more atrophic compared to the other two muscles and also demonstrated most edema. The biceps brachii had in most cases an intermediate degree of weakness and atrophy but the most pronounced inflammatory cell infiltration on biopsy. Cytochrome c oxidase-negative muscle fibers were significantly more prevalent in the vastus lateralis and biceps brachii muscles than in the tibialis anterior and thus correlated with muscular atrophy, indicating that this is a secondary change. Inflammatory changes as assessed by MRI and muscle biopsy were seen in all muscles irrespective of atrophy and thus appear to be prevalent at all stages of the disease. Conclusions: Our study could not provide an answer to the question which comes first, the inflammation or the degenerative changes.
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| 12. |
- Edofsson, Ulrika, et al.
(författare)
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The Reliability and Validity of the Swedish Version of the Fatigue and Daytime Sleepiness Scale (FDSS)
- 2017
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Ingår i: Conference book for IDMC-11. San Fransisco, California, Usa: 5-9 September.
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Introduction: Fatigue and excessive daytime sleepiness are frequently experienced by patients with DM1 and these symptoms have a negative impact on daily activity, participation and quality of life. Although there are few successful treatment options, there exists a need to develop instruments with the aim to reliably measure symptoms and follow patients over time in clinical practice and research. The aim of this study was to translate and psychometrically evaluate the Fatigue and Daytime Sleepiness Scale (FDSS). Shortly, the FDSS has been devised with the aim to measure these symptoms as a single clinical entity, consisting of 12 self-assessment questions covering both fatigue and daytime sleepiness. The original version of FDSS has been found to be reliable and valid. The study was performed at the Neuromuscular Centre, Sahlgrenska University Hospital, Gothenburg, Sweden. Methods: The FDSS was translated into Swedish using the forward-and backward procedure. The scale was administered to 43 patients on two occasions at a two week interval. At baseline assessment, the patients also received the question of whether they experienced fatigue and/or sleepiness (yes or no). The group of patients consisted of 24 women and 19 men with an average age of 46.9 years (four with the childhood form, 32 classical and seven with a late onset). The statistical analysis included an evaluation of intra-rater reliability, internal consistency and construct validity. Results: The FDSS showed an excellent intra-rater reliability (PCC = .91) and acceptable internal consistency (Cronbach’s alpha = .71). The scale successfully distinguished patients experiencing fatigue and sleepiness from those who did not (mean FDSS score of 10.8 vs 7.1, p = .002). Discussion: The present study supports the use of the translated version of the FDSS for the measurement of fatigue and daytime sleepiness in patients with DM1. Grant Support: West Sweden Muscle Foundation.
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| 13. |
- Eriksson, Annika K., et al.
(författare)
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Influence of iron addition on the oxygen-deficient Sr0.85Bi0.15Co1-xFexO3-delta (0.0 <= x <= 1.0) perovskites
- 2008
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Ingår i: Journal of Solid State Chemistry. - : Elsevier BV. - 0022-4596 .- 1095-726X. ; 181:8, s. 2031-2040
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Tidskriftsartikel (refereegranskat)abstract
- A series of oxygen-deficient Sr0.85Bi0.15Co1-xFexO3-delta (0.0 <= x <= 1.0) perovskite phases were prepared using solid-state reaction. Results of neutron powder diffraction analyses show that the introduction of Fe onto the B-site severely effects the long range coherence of the oxygen vacancy ordered, 14/mmm supercell, observed for the x = 0.0 sample. For x = 0.1 a smaller, a = b approximate to a(p), c approximate to 2a(p), P4/mmm supercell gives the best agreement to the diffraction data, whilst phases in the range 0.2 <= x <= 0.6 adopt disordered cubic perovskite structures. Pseudo-cubic, a = b approximate to a(p), c approximate to a(p), structures are found for x >= 0.8. Evidence of weak superstructures, reflecting local oxygen ordering, is also obtained from electron diffraction. For all oxygen-annealed phases the average structure reverts to cubic Pm (3) over barm. The as-prepared samples show G-type antiferromagnetic order at room temperature. The oxygen annealed x = 0.10, 0.25 and 1.0 samples display low-temperature spin-glass transitions.
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| 14. |
- Eriksson, Marianne, et al.
(författare)
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Hand Function in 45 Patients with Sporadic Inclusion Body Myositis
- 2012
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Ingår i: Occupational Therapy International. - : Wiley. - 0966-7903. ; 19:2, s. 108-116
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Tidskriftsartikel (refereegranskat)abstract
- The purpose of this study was to explore hand function in patients with sporadic inclusion body myositis (sIBM) using the Sollerman Hand function test, finger range of motion, hand- and pinch strength, and fine motor ability as well as subjective estimate of hand- and grip function. Forty-five outpatients with definite sIBM were investigated using handgrip-, lateral-, and pinch strength, active finger range of motion (AROM), fine motor ability with Purdue Pegboard test, Sollerman Hand function test, and patients' estimated hand- and grip function. The association between these variables were assessed using correlation statistics. A second test occasion was performed in 16 patients in order to investigate the intra-rater reliability. We found that the reduction of hand- and pinch strength was more pronounced (37% right, 31% left hand) than lateral strength (50%) in relation to normal values. AROM was impaired in 25 (56%) in the right and 29 (64%) in the left hand. Fine motor ability was fairly well preserved; mean right/ left 70 and 60% of normal. AROM deficit was found to be present in 50% of patients 7 years after perceived hand weakness. This is important since it was found to impair the usefulness of the different strength measures, while limitations due to AROM deficit were not found regarding the Sollerman and to a lesser extent the Purdue Pegboard tests. Results of the test-retest showed very good reliability. Our results indicate that impairment of hand function is frequent and severe in sIBM patients. Reduction in AROM is frequent, and it is important to identify since it affects the usefulness of handgrip measurements, and further that may be treatable. Several different tests are probably needed in order to describe the patients' limitations and to capture changes over time. Compensatory strategies when gripping test items is a problem especially in patients with AROM deficits. Research on validity and reliability of these tests in sIBM patients are lacking. Copyright (c) 2012 John Wiley & Sons, Ltd.
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| 15. |
- Fröhle, Markus, 1984, et al.
(författare)
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Cooperative Localization of Vehicles without Inter-vehicle Measurements
- 2018
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Ingår i: IEEE Wireless Communications and Networking Conference, WCNC. - 1525-3511. ; 2018-April
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Konferensbidrag (refereegranskat)abstract
- While cooperation among vehicles can improve localization, standard communication technologies (e.g., 802.11p) cannot provide reliable range or angle measurements. To allow cooperation without explicit inter-vehicle measurements, we propose a cooperative localization method whereby vehicles track mobile features in the environment and use associations of features among vehicles to improve the vehicles' localization accuracy. The proposed algorithm, which scales linearly in the number of vehicles and quadratically in the number of tracked features, shows superior localization performance compared to a non-cooperative approach.
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| 16. |
- Fröhle, Markus, 1984, et al.
(författare)
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Multisensor Poisson Multi-Bernoulli Filter for Joint Target-Sensor State Tracking
- 2019
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Ingår i: IEEE Transactions on Intelligent Vehicles. - 2379-8858. ; 4:4, s. 609-621
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Tidskriftsartikel (refereegranskat)abstract
- In a typical multitarget tracking (MTT) scenario, the sensor state is either assumed known, or tracking is performed in the sensor's (relative) coordinate frame. This assumption does not hold when the sensor, e.g., an automotive radar, is mounted on a vehicle, and the target state should be represented in a global (absolute) coordinate frame. Then it is important to consider the uncertain location of the vehicle on which the sensor is mounted for MTT. In this paper, we present a multisensor low complexity Poisson multi-Bernoulli MTT filter, which jointly tracks the uncertain vehicle state and target states. Measurements collected by different sensors mounted on multiple vehicles with varying location uncertainty are incorporated sequentially based on the arrival of new sensor measurements. In doing so, targets observed from a sensor mounted on a well-localized vehicle reduce the state uncertainty of other poorly localized vehicles, provided that a common non-empty subset of targets is observed. A low complexity filter is obtained by approximations of the joint sensor-target state density minimizing the Kullback-Leibler divergence (KLD). Results from synthetic as well as experimental measurement data, collected in a vehicle driving scenario, demonstrate the performance benefits of joint vehicle-target state tracking.
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| 17. |
- Gouveia-Figueira, Sandra, et al.
(författare)
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Plasma levels of the endocannabinoid anandamide, related N-acylethanolamines and linoleic acid-derived oxylipins in patients with migraine
- 2017
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Ingår i: Prostaglandins, Leukotrienes and Essential Fatty Acids. - : Elsevier BV. - 0952-3278 .- 1532-2823. ; 120, s. 15-24
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Tidskriftsartikel (refereegranskat)abstract
- There is evidence that patients with migraine have deficient levels of the endogenous cannabinoid receptor ligand anandamide (AEA). It is not known, however, if this is a localised or generalised phenomenon. In the present study, levels of AEA, related N-acylethanolamines (NAEs) and linoleic acid-derived oxylipins have been measured in the blood of 26 healthy women and 38 women with migraine (26 with aura, 12 without aura) who were matched for age and body-mass index. Blood samples were taken on two occasions: the first sample near the start of the menstrual cycle (when present) and the second approximately fourteen days later. For a subset of migraine patients, two additional blood samples were taken, one during a migraine attack and one approximately 1 month later (to be at the same stage in the menstrual cycle, when present). NAEs and oxylipins were measured by liquid chromatography coupled to mass spectrometry. Twenty-nine lipids were quantified, of which 16 were found to have a high reproducibility of measurement. There were no significant differences in the levels of AEA, the related NAEs stearoylethanolamide and oleoylethanolamide or any of the nine linoleic acid derived oxylipins measured either between migraine patients with vs. without aura, or between controls and migraine patients (after stratification to take into account whether or not the individuals had regular menstruation cycles) in either of the first two samples. Levels of linoleoylethanolamide were lower in the patients with vs. without aura on the second sample but not in the first sample, but the biological importance of this fording is unclear. Due to time-dependent increases in their concentrations ex vivo prior to centrifugation, AEA and oleoylethanolamide levels in the samples collected during migraine attacks were not analysed, but for the other fourteen lipids, there were no significant differences in plasma concentrations during migraine vs. one month later. It is concluded that migraine is not associated with a generalised (as opposed to localised) deficiency in these lipids.
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| 18. |
- Hammarén, Elisabet, et al.
(författare)
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Factors of importance for dynamic balance impairment and frequency of falls in individuals with myotonic dystrophy type 1 - A cross-sectional study - Including reference values of Timed Up & Go, 10m walk and step test
- 2014
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Ingår i: Neuromuscular Disorders. - : Elsevier BV. - 0960-8966 .- 1873-2364. ; 24:3, s. 207-215
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Tidskriftsartikel (refereegranskat)abstract
- Patients with myotonic dystrophy type 1 suffer from gait difficulties including stumbles and falls. To identify factors of importance for balance impairment and fall-risk a mapping of functional balance was performed, in a cross-sectional study of 51 adults. Walking, balance, falls and muscle force were self-assessed and measured. Reference values of balance were established through measurements of 220 healthy subjects. Falls were more frequently observed in the patients who were more severely affected of muscle weakness than in mildly affected patients, p= 0.014. The number of falls showed negative correlation with balance confidence ( rs= -0.516, p<. 0.001). The ankle dorsiflexor force together with the time difference between comfortable and maximum speed in 10. m-walk proved to be significant factors for fall frequency. A ten Newton muscle force decrease showed 15% increase in odds ratio for frequent falls. One-second increase in time difference between comfortable and maximum walking speed showed 42% increase in odds ratio for frequent falls. In conclusion, assessing the ankle muscle force and the time difference in different walking speeds is important to detect risk of falling. The activities-specific balance confidence score reflects the consequences of the muscle force decrease. Certain patient strategies to diminish risk of falling could be due. © 2013 Elsevier B.V.
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| 19. |
- Hammarén, Elisabet, et al.
(författare)
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Modified exercise test in screening for mitochondrial myopathies--adjustment of workload in relation to muscle strength.
- 2003
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Ingår i: European neurology. - : S. Karger AG. - 0014-3022 .- 1421-9913. ; 51:1, s. 38-41
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Tidskriftsartikel (refereegranskat)abstract
- The aim of this study was to evaluate the usefulness of a modification of the bicycle ergometer test, the subanaerobic threshold exercise test (SATET), as a screening test for patients with mitochondrial myopathies. Since the original SATET is frequently found to be strenuous for weak patients, a new variable (relative muscle strength) was added to the workload formula. Plasma lactate levels were recorded at rest, then after 5 and 15 min of cycling on an ergometer, with constant workload. Nine patients with mitochondrial myopathy, 10 patients with other neuromuscular diseases and 9 healthy but sedentary volunteers undertook the test. An upper reference limit after exercise for plasma lactate was settled at 2.9 mmol/l. The modified SATET showed a sensitivity of 78% and a specificity compared to the healthy subjects of 100%. Compared to patients with other neuromuscular diseases, the specificity was lower (60%). All subjects completed the test without severe fatigue or pain.
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| 20. |
- Hammarén, Elisabet, et al.
(författare)
-
Muscle force, balance and falls in muscular impaired individuals with myotonic dystrophy type 1: A five-year prospective cohort study
- 2015
-
Ingår i: Neuromuscular Disorders. - : Elsevier BV. - 0960-8966. ; 25:2, s. 141-148
-
Tidskriftsartikel (refereegranskat)abstract
- Individuals with myotonic dystrophy type 1 (DM1) have progressive muscle weakness with gait and balance impairments. We explored prospectively the natural history of muscle force, gait, balance, balance confidence and walking ability in muscular affected individuals with DM1. After five years data from 43 individuals (m/f:18/25) were analysed. All measures of balance showed statistically significant deterioration (p < 0.001) with averaged yearly loss of function by 3–4%. In the group as a whole, loss of muscle force was statistically significant in all lower limb muscles measured after five years: changes relative to baseline force were median −6% to −18%. For males muscle force loss was statistically significant in all leg muscles, but only in hip flexors for women. After five years 100% of the men had fallen during the previous year and 67% three times or more, in contrast only 60% of the women had fallen in the previous year and 36% three times or more. The proportion of individuals seeking medical care the previous year, after falling, was more than doubled after five years, albeit the number of falls had not changed.Awareness of this increased risk of falls is important for caregivers and patients.
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| 21. |
- Hammarén, Elisabet, et al.
(författare)
-
Quantification of mobility impairment and self-assessment of stiffness in patients with myotonia congenita by the physiotherapist.
- 2005
-
Ingår i: Neuromuscular disorders : NMD. - : Elsevier BV. - 0960-8966. ; 15:9-10, s. 610-7
-
Tidskriftsartikel (refereegranskat)abstract
- We investigated test-retest reliability and responsiveness in two functional measuring instruments, Timed Up&Go (TUG) and Timed-Stands Test (TST), and in three self-assessment scales, Visual Analogue Scale (VAS), Borg's Category-Ratio Scale (BorgCR10) and Myotonia Behaviour Scale (MBS) when quantifying myotonic stiffness and mobility impairment. These methods were used in the assessment of treatment efficacy of mexiletine. Six male patients with myotonia congenita followed a standardised protocol with time scoring and rest on two occasions, with and without mexiletine. Time scoring of TUG and TST and self-assessments of stiffness were performed. A 14-day stiffness diary was used at home. Timed Up&Go and TST showed very good test-retest agreement (ICC=0.87-0.95) and significant to change (P=0.005 and 0.001, respectively). All self-assessment scales revealed excellent responsiveness and good test-retest reliability. The measurement instruments possess great capacity to detect functional impairment in the myotonia congenita patient group, and sensibility to identify true changes due to treatment. When considering the results, three instruments are favoured; Timed Up&Go and BorgCR10 for short, and MBS for long-term evaluations.
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| 22. |
- Hammarén, Elisabet, et al.
(författare)
-
Reliability of static and dynamic balance tests in subjects with myotonic dystrophy type 1
- 2012
-
Ingår i: Advances in Physiotherapy. - : Informa UK Limited. - 1403-8196 .- 1651-1948. ; 14:2, s. 48-54
-
Tidskriftsartikel (refereegranskat)abstract
- The aim of this study was to evaluate test-retest reliability of balance tests and timed walking in individuals with myotonic dystrophy type 1 (DM1). Assessments of static and dynamic balance including timed walking were repeated on three occasions with 1-week intervals. A sample of 10 individuals with functional impairment due to the DM1 disorder participated. The inclusion criteria were: age 20-60; genetically proven DM1 and ability to perform Timed Up&Go (TUG) with or without handheld aids. One Leg and Tandem Stance were assessed as well as Timed 10-m walk (comfortable/maximum pace), TUG, Step Test and Walking in a Figure-of-Eight (Fo8). The analysis of relative reliability comprised the intraclass correlation coefficient (ICC2,1); the analysis of disagreement comprised the standard error of measurement, the repeatability and the measurement error. Mean age of the participants was 42.7 years (± 10.7 years). The ICC was good to high (0.83-0.98) for all tests except Fo8. The analysis of disagreement showed that the dynamic balance tests were more reliable than the static tests. We recommend the use of the dynamic balance tests Step Test and TUG, together with the Timed 10-m walk at maximum pace to evaluate balance performance quantitatively during walking in patients with DM1..
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| 23. |
- Hedberg, Carola, 1969, et al.
(författare)
-
Myopathy in a woman and her daughter associated with a novel splice site MTM1 mutation.
- 2012
-
Ingår i: Neuromuscular disorders : NMD. - : Elsevier BV. - 1873-2364 .- 0960-8966. ; 22:3, s. 244-51
-
Tidskriftsartikel (refereegranskat)abstract
- We have investigated a woman and her daughter with an early onset, slowly progressive myopathy. Muscle biopsy showed in both cases severe atrophy with marked fatty replacement. Frequent fibers with internalized nuclei were present but no typical features of centronuclear myopathy. There were also many fibers with deep invaginations of the plasma membrane. The presence of necklace fibers provided clue to correct genetic diagnosis. Both patients had a novel heterozygous splice site mutation in the myotubularin gene, MTM1 (c.867+1G>T). Analysis of MTM1 cDNA revealed that the mutation resulted in aberrant splicing with variable exon skipping. The expression of normal transcripts was markedly reduced and there was reduced expression of myotubularin protein. Although the expression of the allele without the mutation was reduced we did not obtain evidence of skewed X-chromosome inactivation. Other factors than skewed X-inactivation may cause allele inactivation and manifestation of severe myopathy in heterozygous carriers of pathogenic MTM1 mutations.
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| 24. |
- Johnsson, Magnus, 1983, et al.
(författare)
-
Clinical stage and plasma neurofilament concentration in adults with Friedreich ataxia
- 2023
-
Ingår i: Heliyon. - 2405-8440. ; 10:1
-
Tidskriftsartikel (refereegranskat)abstract
- Objectives: Friedreich Ataxia (FRDA) is the most common recessive ataxia disorder. Yet, little is known of the prevalence in Sweden. In the future, there may be effective disease-modifying therapies, and use of clinical rating scales as well as possible biomarkers in serum or cerebrospinal fluid may be of importance. We evaluated the axonal protein neurofilament light in plasma (p-NfL) as a possible biomarker for disease severity in FRDA. Materials & methods: We searched for all possible genetically confirmed FRDA cases in the Västra Götaland Region (VGR) of Sweden, and investigated each patient clinically and obtained blood sample for analysis of p-NfL. Results: We found eight patients corresponding to 1/170.000 adults in the VGR, and 5 of these participated in the study. Three out of the five FRDA patients displayed a small or moderate increase in the p-NfL value, compared to the age-adjusted cut-offs for p-NfL established in the Clinical Neurochemistry Laboratory at our hospital. The two others were the oldest and most severely affected, displayed normal values according the cut-off values. The cohort is too small to make any statistically significant correlation between the five p-NfL values with regard to disease severity. Conclusions: FRDA is less prevalent in our region of Sweden than could be assumed. In concordance with previous studies from other authors, we find that p-NfL may be increased in patients with FRDA, but less so in older more clinically affected patients. Thus, we conclude that on an individual basis, p-NFL is of uncertain clinical value as a suitable biomarker. © 2023
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| 25. |
- Kircher, Katja, et al.
(författare)
-
Countermeasures against dangerous use of communication devices while driving – : a toolbox
- 2012
-
Rapport (övrigt vetenskapligt/konstnärligt)abstract
- Denna rapport behandlar tänkbara åtgärder för att reducera farligt användande av mobiltelefon och annan kommunikationsutrustning under körning. En viktig del i uppdraget var att belysa alternativ till lagstiftning om förbud. Åtgärdsförslagen täcker flera områden. Ett av dem är teknik, vilket innefattar både teknik i fordonet, teknik i kommunikationsutrustningen och en sammankoppling med infrastrukturen. Ett annat område handlar om utbildning och information och beskriver olika sätt att öka människans kunskap och förståelse. Ett tredje område belyser olika möjligheter som samhället har att påverka människans beteende, både via förbud och lagar och via incitament. En lista över samtliga åtgärdsförslag finns på rapportens baksida. Det finns både för- och nackdelar med användandet av kommunikationsutrustning under körning. Hur användandet ska hanteras är ett komplext problem och det är osannolikt att en enskild åtgärd står för hela lösningen. En åtgärd kan till och med vara beroende av att andra åtgärder redan är implementerade. Många åtgärder har en baksida och man kan inte förvänta sig tydliga målbilder och rakt igenom positiva resultat. Man måste därför lyfta blicken och inse att om fördelarna överväger nackdelarna så är åtgärden värd att genomföra. Olika åtgärder kan dock stärka varandra och delvis fånga upp möjliga negativa sidoeffekter. Vi anser att en kombination av olika åtgärder som dels utbildar och informerar och dels stöttar föraren i att kunna hantera kommunikation på ett säkert sätt är att föredra över ett förbud av användningen av kommunikationsutrustning under färd likt det som idag finns i andra europeiska länder. En kontinuerlig uppföljning och utvärdering krävs för att säkerställa att åtgärderna har förväntad effekt.
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| 26. |
- Kircher, Katja, 1973-, et al.
(författare)
-
Åtgärder mot trafikfarlig användning av kommunikationsutrustning under körning : en verktygslåda
- 2012
-
Rapport (övrigt vetenskapligt/konstnärligt)abstract
- Rapporten kan ses som en verktygslåda av åtgärder med syfte att motverka de trafikfarliga aspekterna av kommunikation under körning och samtidigt bevara de positiva effekterna. Åtgärdsförslagen täcker flera områden och är tänkta som alternativ till lagstiftning om förbud. Ett av dem är teknik, vilket innefattar både teknik i fordonet, teknik i kommunikationsutrustningen och en sammankoppling med infrastrukturen. Ett annat område handlar om utbildning och information och beskriver olika sätt att öka människans kunskap och förståelse. Ett tredje område belyser olika möjligheter som samhället har att påverka människans beteende, både via förbud och lagar och via incitament. Vi vill poängtera att det finns både för- och nackdelar med användandet av kommunikationsutrustning under körning. Hur användandet ska hanteras är ett komplext problem och det är osannolikt att en enskild åtgärd står för hela lösningen. En åtgärd kan till och med vara beroende av att andra åtgärder redan är implementerade. Många åtgärder har en baksida och man kan inte förvänta sig entydiga och rakt igenom positiva resultat. Man måste därför lyfta blicken och inse att om fördelarna överväger nackdelarna så är åtgärden värd att genomföra. Olika åtgärder kan dock stärka varandra och delvis fånga upp möjliga negativa sidoeffekter.
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| 27. |
- Kleberg, Johan L., et al.
(författare)
-
Facial memory deficits in myotonic dystrophy type 1.
- 2014
-
Ingår i: Acta Neurologica Scandinavica. - : Hindawi Limited. - 0001-6314 .- 1600-0404. ; 130:5, s. 312-318
-
Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: To evaluate facial memory ability (FMA) in patients with myotonic dystrophy type 1 (DM1). We also explored the relationship between FMA and neuropsychological data, disease-related factors, and CTG repeat expansion size. MATERIALS AND METHODS: Patients with DM1 (n = 33) and healthy subjects (n = 30) were tested with the faces task of the Rivermead Behavioural Memory Test - Extended version (RBMT-E) and an additional set of neuropsychological tests. Clinical data were collected, and CTG repeat size was quantified in blood lymphocytes. RESULTS: Low results on the faces task were more common in patients with DM1 compared with healthy subjects (P < 0.05), with 36% of the patients showing a poor/impaired performance. DM1 patients with deficits in FMA performed significantly worse on tests measuring visual-construction ability and memory. Furthermore, these patients more often falsely recognised unknown faces as known. Deficits in FMA were not associated with any disease-related factor, including CTG repeat expansion size. CONCLUSIONS: These findings revealed deficits in FMA in the DM1 group, which was associated with reduced construction- and visual memory ability.
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| 28. |
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| 29. |
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| 30. |
- Kollberg, Gittan, 1963, et al.
(författare)
-
Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations.
- 2005
-
Ingår i: European journal of human genetics : EJHG. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 13:4, s. 463-9
-
Tidskriftsartikel (refereegranskat)abstract
- Mitochondrial myopathy in progressive external ophthalmoplegia (PEO) has been associated with POLG1 mutations. POLG1 encodes the catalytic alpha subunit of polymerase gamma and is the only polymerase known to be involved in mtDNA replication. It has two functionally different domains, one polymerase domain and one exonuclease domain with proofreading activity. In this study we have investigated whether mtDNA point mutations are involved, directly or indirectly, in the pathogenesis of PEO. Muscle biopsy specimens from patients with POLG1 mutations, affecting either the exonuclease or the polymerase domain, were investigated. Single cytochrome c oxidase (COX)-deficient muscle fibers were dissected and screened for clonally expanded mtDNA point mutations using a sensitive denaturing gradient gel electrophoresis analysis, in which three different regions of mtDNA, including five different tRNA genes, were investigated. To screen for randomly distributed mtDNA point mutations in muscle, two regions of mtDNA including deletion breakpoints were investigated by high-fidelity PCR, followed by cloning and sequencing. Long-range PCR revealed multiple mtDNA deletions in all the patients but not the controls. No point mutations were identified in single COX-deficient muscle fibers. Cloning and sequencing of muscle homogenate identified randomly distributed point mutations at very low frequency in patients and controls (<1:50 000). We conclude that mtDNA point mutations do not appear to be directly or indirectly involved in the pathogenesis of mitochondrial disease in patients with different POLG1 mutations.
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| 31. |
|
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| 32. |
- Kollberg, Gittan, 1963, et al.
(författare)
-
Mitochondrial myopathy and rhabdomyolysis associated with a novel nonsense mutation in the gene encoding cytochrome c oxidase subunit I.
- 2005
-
Ingår i: Journal of neuropathology and experimental neurology. - 0022-3069. ; 64:2, s. 123-8
-
Tidskriftsartikel (refereegranskat)abstract
- Mitochondrial DNA (mtDNA) mutations associated with rhabdomyolysis are rare but have been described in sporadic cases with mutations in the cytochrome b and cytochrome c oxidase (COX) genes and in 3 cases with tRNALeu mutation. We report a novel heteroplasmic G6708A nonsense mutation in the mtDNA COI gene encoding COX subunit I in a 30-year-old woman with muscle weakness, pain, fatigue, and one episode of rhabdomyolysis. Histochemical examination of muscle biopsy specimens revealed reduced COX activity in the majority of the muscle fibers (approximately 90%) and frequent ragged red fibers. Biochemical analysis showed a marked and isolated COX deficiency. Analysis of DNA extracted from single fibers revealed higher levels of the mutation in COX-deficient fibers (> 95%) compared with COX-positive fibers (1%-80%). The mutation was not detected in a skin biopsy, cultured myoblasts, or blood leukocytes. Nor was it identified in blood leukocytes from the asymptomatic mother, indicating a de novo mutation that arose after germ layer differentiation. Western blot analysis and immunohistochemical staining revealed that reduced levels of COX subunit I were accompanied by reduced levels of other mtDNA encoded subunits, as well as nuclear DNA encoded subunit IV, supporting the concept that COX subunit I is essential for the assembly of complex IV in the respiratory chain.
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| 33. |
- LINDBERG, CHRISTOPHER, 1988, et al.
(författare)
-
Compressed Sensing in Wireless Sensor Networks without Explicit Position Information
- 2017
-
Ingår i: IIEEE Transactions on Signal and Information Processing over Networks. - 2373-776X. ; 3:2, s. 404-415
-
Tidskriftsartikel (refereegranskat)abstract
- Reconstruction in compressed sensing relies on knowledge of a sparsifying transform. In a setting where a sink reconstructs a field based on measurements from a wireless sensor network, this transform is tied to the locations of the individual sensors, which may not be available to the sink during reconstruction. In contrast to previous works, we do not assume that the sink knows the position of each sensor to build up the sparsifying basis. Instead, we propose the use of spatial interpolation based on a predetermined sparsifying transform, followed by random linear projections and ratio consensus using local communication between sensors. For this proposed architecture, we upper bound the reconstruction error induced by spatial interpolation, as well as the reconstruction error induced by distributed compression. These upper bounds are then utilized to analyze the communication cost tradeoff between communication to the sink and sensor-to-sensor communication.
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| 34. |
- LINDBERG, CHRISTOPHER, 1988
(författare)
-
Consensus Trade-offs in Wireless Sensor Networks
- 2015
-
Licentiatavhandling (övrigt vetenskapligt/konstnärligt)abstract
- As more and more everyday electronic devices become equipped with the combined re- sources of computation, sensing, and wireless communications, possible platforms for implementation of wireless sensor networks have become ubiquitous. The combination of these three main capabilities of such a network present the opportunity to for example gather high resolution measurement data, or cooperatively perform advanced computa- tional tasks. The size of these wireless sensor networks are often said to be on the order of hundreds to several thousands nodes. To harness the capabilities of these networks, there is a need to design and implement efficient distributed algorithms.In this thesis we study a family of distributed algorithms referred to as consensus algorithms. These algorithms work by nodes in the network locally exchanging informa- tion with the goal of reaching an agreement (consensus) on something. They then use the information received from their neighbors to update their information according to an update rule determined by the algorithm. This is done repeatedly until consensus on the information is reached, or we decide to stop the algorithm. Specifically, we study design choices, or trade-offs, that should be considered when implementing consensus algorithms to solve certain distributed problems in wireless sensor networks. The trade- offs investigated in this thesis and the appended papers deal with the metrics of time, communication resource usage, and information disagreement.In the overview part of the thesis we give an introduction to some consensus algo- rithms, and show how the convergence properties can be analyzed using spectral analysis of matrices. We also briefly introduce two trade-offs, and give some intuition of the mechanics behind their behaviors. In the appended papers, we present an application of consensus algorithms to in-network compression using the theory of compressed sensing. We derive upper bounds for the reconstruction performance. These bounds are then used to formulate a trade-off between two communication costs, one cost for sensor-to-sensor communication and one for sensor-to-sink communication, given a reconstruction error threshold. Furthermore, we evaluate the optimal system design given the cost ratio of the two communication costs. We also use a consensus algorithm in combination with a distributed particle filter to perform distributed tracking. The trade-off considered for this scenario is one weighing tracking performance against time delay, with the design parameter being the communication range affecting both of these metrics.
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| 35. |
- LINDBERG, CHRISTOPHER, 1988, et al.
(författare)
-
Distributed Compressed Sensing for Sensor Networks with Packet Erasures
- 2014
-
Ingår i: Proceedings - IEEE Global Communications Conference, GLOBECOM. - 2334-0983 .- 2576-6813. - 9781479935116 ; , s. 13-19
-
Konferensbidrag (refereegranskat)abstract
- We study two approaches to distributed compressed sensing for in-network data compression and signal reconstruc- tion at a sink. Communication to the sink is considered to be bandwidth-constrained due to the large number of devices. By using distributed compressed sensing for compression of the data in the network, the communication cost (bandwidth usage) to the sink can be decreased at the expense of delay induced by the local communication. We investigate the relation between cost and delay given a certain reconstruction performance requirement when using basis pursuit denoising for reconstruction. Moreover, we analyze and compare the performance degradation due to erased packets sent to the sink.
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| 36. |
- Lindberg, Christopher, et al.
(författare)
-
Episodes of exercise-induced dark urine and myalgia in LGMD 2I.
- 2012
-
Ingår i: Acta neurologica Scandinavica. - 1600-0404. ; 125:4, s. 285-7
-
Tidskriftsartikel (refereegranskat)abstract
- Mutations in the fukutin-related protein gene FKRP (MIM *606596) cause a form of congenital muscular dystrophy (MDC1C) and also limb girdle muscular dystrophy type 2I (LGMD2I). Exercise-induced myoglobinuria, frequently occurring in metabolic myopathies, has been described in Becker muscular dystrophy and in a few cases of LGMD.
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| 37. |
- LINDBERG, CHRISTOPHER, 1988, et al.
(författare)
-
MAC Delay in Belief Consensus for Distributed Tracking
- 2013
-
Ingår i: IEEE Proc. of 10th Workshop on Positioning, Navigation and Communication (WPNC). - : IEEE. - 9781467360319 ; , s. 1-6
-
Konferensbidrag (refereegranskat)abstract
- In target tracking applications where many sensors must have a common view of the target’s state, distributed particle filtering with belief consensus is an attractive solution. It allows for a fully distributed, scalable solution, guarantees exact consensus in connected networks, and convergences fast for network with high connectivity. However, for medium access control, high connectivity is detrimental, possibly leading to a different convergence/performance trade-off. We study the delay/performance trade-off of distributed particle filtering with belief consensus in the presence of time division medium access control. We found that for small networks, (i) the impact of max-consensus should be accounted for; (ii) a simple schedule combined with a large communication range gives the best delay/performance trade-off.
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| 38. |
- Lindberg, Christopher, et al.
(författare)
-
MELAS syndrome in a patient with a point mutation in MTTS1.
- 2008
-
Ingår i: Acta neurologica Scandinavica. - : Hindawi Limited. - 1600-0404 .- 0001-6314. ; 117:2, s. 128-32
-
Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND, OBJECTIVE AND METHODS: We describe a female patient with a mitochondrial encephalopathy, lactic acidosis and stroke-like episodes syndrome. As a child, she developed epilepsy and stroke-like episodes giving cognitive impairment and ataxia but no hearing impairment. At the age of 44 years, she suffered a cerebral sinus thrombosis which was warfarin treated. One month later, she developed an episode of severe acidosis associated with encephalopathy and myelopathy. RESULTS: She was found to harbour a 7512T>C mutation in the mitochondrial encoded tRNA(Ser(UCN)) gene (MTTS1). The mutation load was 91% in muscle and 24% in blood. Enzyme histochemical analysis of the muscle tissue showed numerous cytochrome c oxidase (COX)-negative fibres. Restriction fragment length polymorphism (RFLP) analysis of single muscle fibres showed significantly higher level (median 97%, range: 94-99%) of the mutation in the COX-negative fibres compared with COX-positive fibres (median 36%, range: 12-91%), demonstrating the pathogenic effect of the mutation. Different levels of heteroplasmy (range 34-61%) were detected in hair shafts analysed by RFLP. CONCLUSION: This case adds to the spectrum of clinical presentations, i.e. sinus thrombosis, in patients having MTTS1 mutations.
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| 39. |
- Lindberg, Christopher, et al.
(författare)
-
Prognosis and prognostic factors in sporadic inclusion body myositis.
- 2012
-
Ingår i: Acta neurologica Scandinavica. - 1600-0404. ; 125:5, s. 353-8
-
Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: To describe the course of change in muscle strength sporadic inclusion body myositis (IBM) patients. MATERIAL AND METHODS: We have studied a cohort of 66 IBM pateints using a hand-held dynamometer. RESULTS: Follow-up during a mean of 61.1 months showed a deterioration of on average -0.79% per month. The 'natural course' without immunosuppressive treatment (IS), analyzed in 43 patients (mean 46.4 months) was mean -1.03% per month. Loss of muscle power was most rapid in knee extension -1.12% (P < 0.001 when compared with elbow flexion, elbow extension and hip flexion). There was a tendency towards a more rapid decline in males than females and over the first 5 years after onset, while the level of serum creatine kinase (CK), age, or region affected at onset did not predict the prognosis. The mean change during periods with any IS treatment was -0.76% per month which was significantly lower compared to the total of untreated periods -1.03% (P < 0.05). Patients (n = 13) treated with mykofenolatmofetil showed a better prognosis of -0.67% per month (P < 0.05). In this group elbow flexion and extension and hip flexion showed a positive response, while knee extension was seemingly unaffected. CONCLUSIONS: There is a mean of 1% loss in power per month in the untreated IBM patient - the rate of loss was greater in the quadriceps muscle and in untreated compared with IS-treated patients.
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| 40. |
- Lindberg, Christopher, et al.
(författare)
-
Raised troponin T in inclusion body myositis is common and serum levels are persistent over time
- 2006
-
Ingår i: Neuromuscul Disord. - : Elsevier BV. ; 16:8, s. 495-7
-
Tidskriftsartikel (refereegranskat)abstract
- Cardiac Troponin T (cTnT), creatine kinase (CK) and creatine kinase isoenzyme MB (CKMB) were measured in 42 consecutive patients with sporadic inclusion body myositis (s-IBM). 26 patients (62%) had a cTnT level >0.05mug/L, the cut off used in the diagnosis of myocardial infarction. The cTnT levels correlated somewhat more closely to CKMB (rho=0.83, p<0.0001) than to CK (rho=0.60, p<0.0001). Patients on immunosuppressive treatment had lower cTnT levels than untreated, while there were no significant differences according to age, disease duration or gender. Repeated samples in 26 patients showed that the cTnT levels were essentially unchanged over time up to 17 months. None of the patients had signs of myocardial damage or renal failure at time of sampling. It may be of value to analyse cTnT at some occasion(s) in s-IBM patients.
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| 41. |
- Lindberg, Christopher, et al.
(författare)
-
Search for Pompe disease among patients with undetermined myopathies
- 2016
-
Ingår i: Acta Neurologica Scandinavica. - : Hindawi Limited. - 0001-6314 .- 1600-0404. ; 133:2, s. 131-135
-
Tidskriftsartikel (refereegranskat)abstract
- Objective - Pompe disease is a rare treatable glycogen storage disease with in adults - a limb-girdle muscle weakness. Muscle biopsy may fail to show the typical vacuolar myopathy. We asked if we had undiagnosed patients with Pompe disease in western Sweden. Material and Methods - We searched the muscle biopsy registry during the time period 1986 until 2006 including 3665 biopsies and included patients at our Neuromuscular Center with unspecified myopathy or limb-girdle muscular dystrophy. The dry blood spot test was used to identify patients with Pompe disease. Results - A total of 82 patients (46 from the biopsy register and 36 from our center) were seen and dry blood spot test was obtained. No patient with Pompe disease was found. The dry blood spot test was low in three cases (11, 16, and 18% of normal) but a second blood sample showed a normal result based on GAA enzyme activity in lymphocytes in all three patients. In one patient with low normal result of the analysis in lymphocytes a genetic test showed no pathogenic mutations. Further investigation gave a definite diagnose of another myopathy in 12 patients. Conclusions - The prevalence of Pompe disease in western Sweden (3 in 1.27 million or 0.24 per 100.000 inhabitants) is lower than in the Netherlands and New York. Re-evaluation of patients with myopathies but without definite diagnosis is rewarding since 12 of 82 patients in our study had a definite molecular diagnosis after workup.
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| 42. |
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| 43. |
- Lindgren, Ulrika, et al.
(författare)
-
Mitochondrial pathology in inclusion body myositis
- 2015
-
Ingår i: Neuromuscular Disorders. - : Elsevier BV. - 0960-8966. ; 25:4, s. 281-288
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Tidskriftsartikel (refereegranskat)abstract
- Inclusion body myositis (IBM) is usually associated with a large number of cytochrome c oxidase (COX)-deficient muscle fibers and acquired mitochondrial DNA (mtDNA) deletions. We studied the number of COX-deficient fibers and the amount of mtDNA deletions, and if variants in nuclear genes involved in mtDNA maintenance may contribute to the occurrence of mtDNA deletions in IBM muscle. Twenty-six IBM patients were included. COX-deficient fibers were assayed by morphometry and mtDNA deletions by qPCR. POLG was analyzed in all patients by Sanger sequencing and C10orf2 (Twinkle), DNA2, MGME1, OPA1, POLG2, RRM2B, SLC25A4 and TYMP in six patients by next generation sequencing. Patients with many COX-deficient muscle fibers had a significantly higher proportion of mtDNA deletions than patients with few COX-deficient fibers. We found previously unreported variants in POLG and C10orf2 and IBM patients had a significantly higher frequency of an RRM2B variant than controls. POLG variants appeared more common in IBM patients with many COX-deficient fibers, but the difference was not statistically significant. We conclude that COX-deficient fibers in inclusion body myositis are associated with multiple mtDNA deletions. In IBM patients we found novel and also previously reported variants in genes of importance for mtDNA maintenance that warrants further studies. (C) 2014 Elsevier B.V. All rights reserved.
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| 44. |
- Moslemi, Ali-Reza, et al.
(författare)
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A novel mutation in the mitochondrial tRNA(Phe) gene associated with mitochondrial myopathy
- 2004
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Ingår i: Neuromuscul Disord. ; 14:1, s. 46-50
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Tidskriftsartikel (refereegranskat)abstract
- We report a novel heteroplasmic T-->C mutation at nt position 582 within the mitochondrial tRNA(Phe) gene of a 70-year-old woman with mitochondrial myopathy. No other family members were affected, suggesting that our patient was a sporadic case. The muscle showed frequent ragged red fibers and 43% cytochrome c oxidase deficient fibers. The mutation alters a conserved base pairing in the aminoacyl acceptor stem. The mutation load was 70% in muscle homogenate and varied from 0 to 95% in individual muscle fiber segments. Cytochrome c oxidase-negative fibers showed significantly higher levels of mutated mtDNA (>75%) than Cytochrome c oxidase-positive fibers (<55%). This mutation adds to the previously described four pathogenic mutations in the tRNA(Phe) gene.
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| 45. |
- Moslemi, Ali-Reza, et al.
(författare)
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Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.
- 2010
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Ingår i: The New England journal of medicine. - : Massachusetts Medical Society. - 1533-4406 .- 0028-4793. ; 362:13, s. 1203-10
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Tidskriftsartikel (refereegranskat)abstract
- Glycogen, which serves as a major energy reserve in cells, is a large, branched polymer of glucose molecules. We describe a patient who had muscle weakness, associated with the depletion of glycogen in skeletal muscle, and cardiac arrhythmia, associated with the accumulation of abnormal storage material in the heart. The skeletal muscle showed a marked predominance of slow-twitch, oxidative muscle fibers and mitochondrial proliferation. Western blotting showed the presence of unglucosylated glycogenin-1 in the muscle and heart. Sequencing of the glycogenin-1 gene, GYG1, revealed a nonsense mutation in one allele and a missense mutation, Thr83Met, in the other. The missense mutation resulted in inactivation of the autoglucosylation of glycogenin-1 that is necessary for the priming of glycogen synthesis in muscle.
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| 46. |
- Nilsson, Johanna, et al.
(författare)
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Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.
- 2013
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Ingår i: Annals of neurology. - : Wiley. - 1531-8249 .- 0364-5134. ; 74:6, s. 914-919
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Tidskriftsartikel (refereegranskat)abstract
- Glycogen storage diseases are important causes of myopathy and cardiomyopathy. We describe ten patients from eight families with childhood or juvenile onset of myopathy, eight of whom also had rapidly progressive cardiomyopathy requiring heart transplant in four. The patients were homozygous or compound heterozygous for missense or truncating mutations in the ubiquitin ligase RBCK1 and had extensive polyglucosan accumulation in skeletal muscle and in the heart in cases of cardiomyopathy. We conclude that RBCK1 deficiency is a frequent cause of polyglucosan storage myopathy associated with progressive muscle weakness and cardiomyopathy. ANN NEUROL 2013. © 2013 American Neurological Association.
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| 47. |
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| 48. |
- Ohlsson, Monica, et al.
(författare)
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Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin
- 2012
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Ingår i: Brain. - : Oxford University Press (OUP). - 0006-8950 .- 1460-2156. ; 135:6, s. 1682-1694
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Tidskriftsartikel (refereegranskat)abstract
- Hereditary myopathy with early respiratory failure and extensive myofibrillar lesions has been described in sporadic and familial cases and linked to various chromosomal regions. The mutated gene is unknown in most cases. We studied eight individuals, from three apparently unrelated families, with clinical and pathological features of hereditary myopathy with early respiratory failure. The investigations included clinical examination, muscle histopathology and genetic analysis by whole exome sequencing and single nucleotide polymorphism arrays. All patients had adult onset muscle weakness in the pelvic girdle, neck flexors, respiratory and trunk muscles, and the majority had prominent calf hypertrophy. Examination of pulmonary function showed decreased vital capacity. No signs of cardiac muscle involvement were found. Muscle histopathological features included marked muscle fibre size variation, fibre splitting, numerous internal nuclei and fatty infiltration. Frequent groups of fibres showed eosinophilic inclusions and deposits. At the ultrastructural level, there were extensive myofibrillar lesions with marked Z-disc alterations. Whole exome sequencing in four individuals from one family revealed a missense mutation, g.274375T > C; p.Cys30071Arg, in the titin gene (TTN). The mutation, which changes a highly conserved residue in the myosin binding A-band titin, was demonstrated to segregate with the disease in all three families. High density single nucleotide polymorphism arrays covering the entire genome demonstrated sharing of a 6.99 Mb haplotype, located in chromosome region 2q31 including TTN, indicating common ancestry. Our results demonstrate a novel and the first disease-causing mutation in A-band titin associated with hereditary myopathy with early respiratory failure. The typical histopathological features with prominent myofibrillar lesions and inclusions in muscle and respiratory failure early in the clinical course should be incentives for analysis of TTN mutations.
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| 49. |
- Oldfors, Anders, 1951, et al.
(författare)
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Diagnosis, pathogenesis and treatment of inclusion body myositis
- 2005
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Ingår i: Curr Opin Neurol. ; 18:5, s. 497-503
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Forskningsöversikt (refereegranskat)abstract
- PURPOSE OF REVIEW: We provide an update of progress gained from research into sporadic inclusion body myositis (s-IBM). RECENT FINDINGS: Most research on s-IBM has focused on the inflammatory reaction or the accumulation of pathological proteins in vacuolated muscle fibres. The inflammatory reaction is characterized by clonal expansions of lymphocytes, predominantly CD8 cytotoxic T cells, which invade and destroy muscle fibres. That costimulatory molecules have been identified demonstrates that muscle fibres can act as antigen presenting cells, and the expression of various chemokines in muscle indicates their importance in the immunopathogenesis of s-IBM. The region of interest for a susceptibility gene in the major histocompatibility complex has been narrowed, and for the first time it has been demonstrated that a chronic viral infection can trigger the inflammatory process leading to s-IBM. The nature of the accumulated material associated with the vacuoles has been extensively investigated over the past few years. Amyloid-beta and phosphorylated tau protein in intracellular inclusions are a characteristic finding in s-IBM, which may lead to calcium dyshomeostasis and endoplasmic reticulum stress. The proteasomal system is upregulated, including immunoproteasomes. 'Molecular misreading' leading to ubiquitin mRNA mutations and accumulation of pathological ubiquitin in muscle fibres may be associated with proteasomal dysfunction. There is still no efficient treatment for s-IBM, but the effects of new, more specific immunotherapies have begun to be explored. SUMMARY: Recent findings indicate that both inflammatory reaction and abnormal protein accumulation are important for the pathogenesis in s-IBM. The link between them continues to await elucidation.
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| 50. |
- Oldfors, Anders, 1951, et al.
(författare)
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Mitochondrial abnormalities in inclusion-body myositis
- 2006
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Ingår i: Neurology. - : Ovid Technologies (Wolters Kluwer Health). - 0028-3878 .- 1526-632X. ; 66:2 Suppl 1
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Tidskriftsartikel (refereegranskat)abstract
- Mitochondrial changes are frequently encountered in sporadic inclusion-body myositis (s-IBM). Cytochrome c oxidase (COX)-deficient muscle fibers and large-scale mitochondrial DNA (mtDNA) deletions are more frequent in s-IBM than in age-matched controls. COX deficient muscle fibers are due to clonal expansion of mtDNA deletions and point mutations in segments of muscle fibers. Such segments range from 75 microm to more than 1,000 microm in length. Clonal expansion of the 4977 bp "common deletion" is a frequent cause of COX deficient muscle fiber segments, but many other deletions also occur. The deletion breakpoints cluster in a few regions that are similar to what is found in human mtDNA deletions in general. Analysis in s-IBM patients of three nuclear genes associated with multiple mtDNA deletions, POLG1, ANT1 and C10orf2, failed to demonstrate any mutations. In s-IBM patients with high number of COX-deficient fibers, the impaired mitochondrial function probably contribute to muscle weakness and wasting. Treatment that has positive effects in mitochondrial myopathies may be tried also in s-IBM.
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