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Sökning: WFRF:(Svantesson O.)

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  • [1]23Nästa
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1.
  • Anney, R. J. L., et al. (författare)
  • Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia
  • 2017
  • Ingår i: Molecular Autism. - 2040-2392. ; 8
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Over the past decade genome-wide association studies (GWAS) have been applied to aid in the understanding of the biology of traits. The success of this approach is governed by the underlying effect sizes carried by the true risk variants and the corresponding statistical power to observe such effects given the study design and sample size under investigation. Previous ASD GWAS have identified genome-wide significant (GWS) risk loci; however, these studies were of only of low statistical power to identify GWS loci at the lower effect sizes (odds ratio (OR) < 1.15). Methods: We conducted a large-scale coordinated international collaboration to combine independent genotyping data to improve the statistical power and aid in robust discovery of GWS loci. This study uses genome-wide genotyping data from a discovery sample (7387 ASD cases and 8567 controls) followed by meta-analysis of summary statistics from two replication sets (7783 ASD cases and 11359 controls; and 1369 ASD cases and 137308 controls). Results: We observe a GWS locus at 10q24.32 that overlaps several genes including PITX3, which encodes a transcription factor identified as playing a role in neuronal differentiation and CUEDC2 previously reported to be associated with social skills in an independent population cohort. We also observe overlap with regions previously implicated in schizophrenia which was further supported by a strong genetic correlation between these disorders (Rg = 0.23; P= 9 x10(-6)). We further combined these Psychiatric Genomics Consortium (PGC) ASD GWAS data with the recent PGC schizophrenia GWAS to identify additional regions which may be important in a common neurodevelopmental phenotype and identified 12 novel GWS loci. These include loci previously implicated in ASD such as FOXP1 at 3p13, ATP2B2 at 3p25.3, and a 'neurodevelopmental hub' on chromosome 8p11.23. Conclusions: This study is an important step in the ongoing endeavour to identify the loci which underpin the common variant signal in ASD. In addition to novel GWS loci, we have identified a significant genetic correlation with schizophrenia and association of ASD with several neurodevelopmental- related genes such as EXT1, ASTN2, MACROD2, and HDAC4.
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2.
  • Weiner, D. J., et al. (författare)
  • Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
  • 2017
  • Ingår i: Nature Genetics. - 1061-4036 .- 1546-1718. ; 49:7, s. 978-
  • Tidskriftsartikel (refereegranskat)abstract
    • Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo variation. We aimed to clarify the influence of polygenic risk for ASD and to identify subgroups of ASD cases, including those with strongly acting de novo variants, in which polygenic risk is relevant. Using a novel approach called the polygenic transmission disequilibrium test and data from 6,454 families with a child with ASD, we show that polygenic risk for ASD, schizophrenia, and greater educational attainment is over-transmitted to children with ASD. These findings hold independent of proband IQ. We find that polygenic variation contributes additively to risk in ASD cases who carry a strongly acting de novo variant. Lastly, we show that elements of polygenic risk are independent and differ in their relationship with phenotype. These results confirm that the genetic influences on ASD are additive and suggest that they create risk through at least partially distinct etiologic pathways.
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3.
  • Genovese, Giulio, et al. (författare)
  • Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence.
  • 2014
  • Ingår i: The New England journal of medicine. - 1533-4406 .- 0028-4793. ; 371:26, s. 2477-87
  • Tidskriftsartikel (refereegranskat)abstract
    • Cancers arise from multiple acquired mutations, which presumably occur over many years. Early stages in cancer development might be present years before cancers become clinically apparent.
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4.
  • Hamrin Senorski, Eric, 1989, et al. (författare)
  • Understanding limitations in sport 1 year after an Achilles tendon rupture: a multicentre analysis of 285 patients.
  • 2020
  • Ingår i: Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA. - 1433-7347. ; 28:1, s. 233-244
  • Tidskriftsartikel (refereegranskat)abstract
    • The purpose of this study was to determine patient-related and treatment-related predictors of superior and inferior function in sport and recreational activities 1 year after an Achilles tendon rupture.This study is based on a multicentre cohort from 4 previous randomised controlled trials. All the patients who had responded to the Foot and Ankle Outcome Score (FAOS) at the 1-year follow-up were included. All the patients had a clinically verified Achilles tendon rupture and patients who underwent surgery were treated within 96 h of the time of rupture. Patients were excluded in the event of a previous Achilles tendon rupture or the presence of other lifestyle diseases. The primary outcomes of the study were reported in the 20th and 80th percentiles of the FAOS subscale, function in sports and recreational activities.A total of 285 (84% men) patients with an average age of 40.0 (SD 8.4) years were included. Smoking increased the odds of superior self-reported FAOS sport and recreation [OR 4.59 (95% CI 1.58-13.32), p = 0.005] compared with non-smoking, while being female [OR 0.38 (95% CI 0.16-0.93), p = 0.035] and every increment of one unit in BMI [OR 0.89 (95% CI 0.81-0.99), p = 0.029] reduced the odds. No variable was statistically significant when attempting to predict which patients report inferior FAOS sport and recreation. The recovery of symmetry in heel-rise tests had no effect on 1-year FAOS sport and recreation. Patient-reported outcomes had a good-to-excellent explanatory capacity of superior and inferior 1-year function in sport and recreational activities (AUC = 0.87-0.93).BMI is a modifiable risk factor, which, when lowered, may be associated with less impairment in sports 1 year after an Achilles tendon rupture. Females appear to perceive more limitations than males. Unexpectedly, smokers experience less limitations in foot and ankle function. Patients who report no functional limitation in sport are characterised by an overall perception of adequate foot, ankle and Achilles function, despite not having recovered symmetry in the heel-rise test.I.
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5.
  • House, David, et al. (författare)
  • On utterance-final intonation in tonal and non-tonal dialects of Kammu
  • 2009
  • Ingår i: Proceedings of Fonetik 2009. - Department of Linguistics, Stockholm University : Stockholm University. ; , s. 78-81
  • Konferensbidrag (övrigt vetenskapligt)abstract
    • In this study we investigate utterance-final intonation in two dialects of Kammu, one tonal and one non-tonal. While the general patterns of utterance-final intonation are similar between the dialects, we do find clear evidence that the lexical tones of the tonal dialect restrict the pitch range and the realization of focus. Speaker engagement can have a strong effect on the utterance-final accent in both dialects.
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6.
  • Phillips, M., et al. (författare)
  • Meniscus repair with simultaneous ACL reconstruction demonstrated similar clinical outcomes as isolated ACL repair: a result not seen with meniscus resection
  • 2018
  • Ingår i: Knee Surgery Sports Traumatology Arthroscopy. - 0942-2056. ; 26:8, s. 2270-2277
  • Tidskriftsartikel (refereegranskat)abstract
    • To compare Knee Injury and Osteoarthritis Outcome Score (KOOS) and EuroQol-5D (EQ-5D) subscale scores at 2-year follow-up for patients with primary isolated ACL reconstruction with patients undergoing ACL reconstruction and simultaneous meniscal treatment in terms of either resection or repair in the Swedish National Knee Ligament Register (SNKLR). All ACL reconstruction patients within the SNKLR at 2-year follow-up were reviewed. The KOOS and EQ-5D subscales were assessed in four distinct patient groups: isolated ACL reconstruction, ACL reconstruction + medial meniscus resection, ACL reconstruction + lateral meniscus resection, ACL reconstruction + medial meniscus repair, and ACL reconstruction + lateral meniscus repair. The primary analysis was conducted using linear regression with isolated ACL reconstruction designated as the reference group, and was adjusted for patient age, gender, and time from injury to surgery. The included patients consisted of 10,001 (65.0%) individuals with an isolated ACL injury, 588 (3.8%) with ACL injury plus treated with medial meniscus repair, 2307 (15.0%) with ACL injury plus treated with medial meniscus resection, 323 (2.1%) with ACL injury plus treated with lateral meniscus repair, and 2173 (14.1%) with ACL injury plus treated with lateral meniscus resection. Meniscus resection demonstrated significantly worse results with respect to the KOOS Symptoms subscale for both the medial and lateral meniscus resection groups. Medial meniscus resection also demonstrated worse results for the KOOS quality of life (QoL) subscale, while lateral meniscus resection only approached significance. Outcomes were not different between the isolated ACL reconstruction group and the meniscus repair groups. Meniscus resection in addition to ACL reconstruction resulted in worse clinical outcomes than isolated ACL reconstruction patients; a result not seen within the meniscus repair group. This suggests that, when possible, meniscus repair may provide greater clinical outcomes over resection when treating a reparable meniscal tear that presents along with an ACL tear. Clinicians should consider and implement these findings for the management of future meniscus tear patients within their clinical practice.
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7.
  • Svantesson, J-O., et al. (författare)
  • Tone production, tone perception and Kammu tonogenesis
  • 2006
  • Ingår i: Phonology. - : Cambridge University Press. - 0952-6757 .- 1469-8188. ; 23:2, s. 309-333
  • Tidskriftsartikel (refereegranskat)abstract
    • The Northern and Western dialects of the Mon-Khmer language Kammu use fundamental frequency to distinguish words, while the Eastern dialect relies on the contrastive voicing of initial consonants to distinguish words which display an F0 contrast in the other dialects. The production and perception of tones in the three dialects is investigated, using recordings and perception tests. As expected, Northern and Western Kammu speakers do use F0 to distinguish words, as seen both in their production and in perception tests, which show that they could distinguish small F0 differences. In contrast, Eastern Kammu speakers neither produce nor perceive F0 differences at the lexical level. Furthermore, the voiceless and voiced stops in Eastern Kammu cause smaller F0 perturbations in the following vowel than might be expected for a language undergoing tonogenesis. The significance of these results for tonogenesis is discussed, as well as their relevance for the notion of 'tone language'.
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8.
  • Westin, Olof, et al. (författare)
  • Older Age Predicts Worse Function 1 Year After an Acute Achilles Tendon Rupture: A Prognostic Multicenter Study on 391 Patients
  • 2018
  • Ingår i: Orthopaedic Journal of Sports Medicine. - 2325-9671. ; 6:12
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: There is limited evidence regarding the patient-related factors that influence treatment outcomes after an acute Achilles tendon rupture. Purpose/Hypothesis: The purpose of this study was to determine the predictors of functional and patient-reported outcomes 1 year after an acute Achilles tendon rupture using a multicenter cohort and to determine patient characteristics for reporting within the top and bottom 10% of the Achilles tendon Total Rupture Score (ATRS) and heel-rise height outcomes. The hypothesis was that older age, greater body mass index (BMI), and female sex would lead to inferior outcomes. Study Design: Cohort study; Level of evidence, 2. Methods: Patients were selected by combining 5 randomized controlled trials from 2 different centers in Sweden. Functional outcomes were assessed using validated heel-rise tests (height, number of repetitions, total work, and concentric power) for muscular endurance and strength, and the relationship between injured and uninjured legs was calculated as the limb symmetry index (LSI). Patient-reported outcomes were measured using the ATRS. All outcomes were collected at the 1-year follow-up. Independent predictors included were patient sex, smoking, BMI, age, and surgical versus nonsurgical treatment. Results: Of the 391 included patients, 307 (79%) were treated surgically. The LSI of heel-rise height at the 1-year follow-up decreased by approximately 4% for every 10-year increment in age (beta, -3.94 [95% CI, -6.19 to -1.69]; P = .0006). In addition, every 10-year increment in age resulted in a 1.79-fold increase in the odds of being in the lowest 10% of the LSI of heel-rise height. Moreover, a nonsignificant superior LSI of heel-rise height was found in patients treated surgically compared with nonsurgical treatment (beta, -4.49 [95% CI, -9.14 to 0.16]; P = .058). No significant predictor was related to the ATRS. Smoking, patient sex, and BMI did not significantly affect the 1-year results for the LSI of the heel-rise tests. Conclusion: Older age at the time of injury negatively affected heel-rise height 1 year after an Achilles tendon rupture. Irrespective of age, a nonsignificant relationship toward the superior recovery of heel-rise height was seen in patients treated surgically. None of the factors studied affected patient-reported outcomes.
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9.
  • Diermeier, T. A., et al. (författare)
  • Treatment after ACL injury: Panther Symposium ACL Treatment Consensus Group
  • 2021
  • Ingår i: British Journal of Sports Medicine. - 0306-3674. ; 55:1, s. 14-22
  • Tidskriftsartikel (refereegranskat)abstract
    • Treatment strategies for ACL injuries continue to evolve. Evidence supporting best practice guidelines to manage ACL injury is largely based on studies with low-level evidence. An international consensus group of experts was convened determine consensus regarding best available evidence on operative versus non-operative treatment for ACL injury. The purpose of this study is to report the consensus statements on operative versus non-operative treatment of ACL injuries developed at the ACL Consensus Meeting Panther Symposium 2019. Sixty-six international experts on the management of ACL injuries, representing 18 countries, convened and participated in a process based on the Delphi method of achieving consensus. Proposed consensus statements were drafted by the Scientific Organising Committee and Session Chairs. Panel participants reviewed preliminary statements prior to the meeting and provided initial agreement and comments on the statement via online survey. During the meeting, discussion and debate occurred for each statement, after which a final vote was then held. Eighty per cent agreement was defined a priori as consensus. A total of 11 of 13 statements on operative versus non-operative treatment of ACL injury reached consensus during the Symposium. Nine statements achieved unanimous support, two reached strong consensus, one did not achieve consensus, and one was removed due to redundancy in the information provided. In highly active patients engaged in jumping, cutting and pivoting sports, early anatomical ACL reconstruction is recommended due to the high risk of secondary meniscus and cartilage injuries with delayed surgery, although a period of progressive rehabilitation to resolve impairments and improve neuromuscular function is recommended. For patients who seek to return to straight plane activities, non-operative treatment with structured, progressive rehabilitation is an acceptable treatment option. However, with persistent functional instability, or when episodes of giving way occur, anatomical ACL reconstruction is indicated. The consensus statements derived from international leaders in the field may assist clinicians in deciding between operative and non-operative treatment with patients after an ACL injury.
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10.
  • Diermeier, T., et al. (författare)
  • Treatment after anterior cruciate ligament injury: Panther Symposium ACL Treatment Consensus Group
  • 2020
  • Ingår i: Knee Surgery, Sports Traumatology, Arthroscopy. - 0942-2056. ; 28
  • Tidskriftsartikel (refereegranskat)abstract
    • Treatment strategies for anterior cruciate ligament (ACL) injuries continue to evolve. Evidence supporting best practice guidelines for the management of ACL injury is to a large extent based on studies with low-level evidence. An international consensus group of experts was convened to collaboratively advance toward consensus opinions regarding the best available evidence on operative vs. non-operative treatment for ACL injury. The purpose of this study is to report the consensus statements on operative vs. non-operative treatment of ACL injuries developed at the ACL Consensus Meeting Panther Symposium 2019. Sixty-six international experts on the management of ACL injuries, representing 18 countries, were convened and participated in a process based on the Delphi method of achieving consensus. Proposed consensus statements were drafted by the Scientific Organizing Committee and Session Chairs for the three working groups. Panel participants reviewed preliminary statements prior to the meeting and provided the initial agreement and comments on the statement via an online survey. During the meeting, discussion and debate occurred for each statement, after which a final vote was then held. Eighty percent agreement was defined a-priori as consensus. A total of 11 of 13 statements on operative v. non-operative treatment of ACL injury reached the consensus during the Symposium. Nine statements achieved unanimous support, two reached strong consensus, one did not achieve consensus, and one was removed due to redundancy in the information provided. In highly active patients engaged in jumping, cutting, and pivoting sports, early anatomic ACL reconstruction is recommended due to the high risk of secondary meniscus and cartilage injuries with delayed surgery, although a period of progressive rehabilitation to resolve impairments and improve neuromuscular function is recommended. For patients who seek to return to straight plane activities, non-operative treatment with structured, progressive rehabilitation is an acceptable treatment option. However, with persistent functional instability, or when episodes of giving way occur, anatomic ACL reconstruction is indicated. The consensus statements derived from international leaders in the field will assist clinicians in deciding between operative and non-operative treatments with patients after an ACL injury. Level of evidence V. © 2020, European Society of Sports Traumatology, Knee Surgery, Arthroscopy (ESSKA).
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