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- Librado, P., et al.
(författare)
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The origins and spread of domestic horses from the Western Eurasian steppes
- 2021
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 598, s. 634-640
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Tidskriftsartikel (refereegranskat)abstract
- Analysis of 273 ancient horse genomes reveals that modern domestic horses originated in the Western Eurasian steppes, especially the lower Volga-Don region. Domestication of horses fundamentally transformed long-range mobility and warfare(1). However, modern domesticated breeds do not descend from the earliest domestic horse lineage associated with archaeological evidence of bridling, milking and corralling(2-4) at Botai, Central Asia around 3500 bc(3). Other longstanding candidate regions for horse domestication, such as Iberia(5) and Anatolia(6), have also recently been challenged. Thus, the genetic, geographic and temporal origins of modern domestic horses have remained unknown. Here we pinpoint the Western Eurasian steppes, especially the lower Volga-Don region, as the homeland of modern domestic horses. Furthermore, we map the population changes accompanying domestication from 273 ancient horse genomes. This reveals that modern domestic horses ultimately replaced almost all other local populations as they expanded rapidly across Eurasia from about 2000 bc, synchronously with equestrian material culture, including Sintashta spoke-wheeled chariots. We find that equestrianism involved strong selection for critical locomotor and behavioural adaptations at the GSDMC and ZFPM1 genes. Our results reject the commonly held association(7) between horseback riding and the massive expansion of Yamnaya steppe pastoralists into Europe around 3000 bc(8,9) driving the spread of Indo-European languages(10). This contrasts with the scenario in Asia where Indo-Iranian languages, chariots and horses spread together, following the early second millennium bc Sintashta culture(11,12).
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- Chaplin, John, 1955, et al.
(författare)
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Registered reports and paediatric research
- 2020
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Ingår i: Quality of Life Research. - : Springer Science and Business Media LLC. - 0962-9343 .- 1573-2649. ; 29:12, s. 3189-3190
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Tidskriftsartikel (refereegranskat)
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4. |
- Frantz, Laurent A. F., et al.
(författare)
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Ancient pigs reveal a near-complete genomic turnover following their introduction to Europe
- 2019
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Ingår i: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences. - 0027-8424 .- 1091-6490. ; 116:35, s. 17231-17238
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Tidskriftsartikel (refereegranskat)abstract
- Archaeological evidence indicates that pig domestication had begun by similar to 10,500 y before the present ( BP) in the Near East, and mitochondrial DNA ( mtDNA) suggests that pigs arrived in Europe alongside farmers similar to 8,500 y BP. A few thousand years after the introduction of Near Eastern pigs into Europe, however, their characteristic mtDNA signature disappeared and was replaced by haplotypes associated with European wild boars. This turnover could be accounted for by substantial gene flow from local European wild boars, although it is also possible that European wild boars were domesticated independently without any genetic contribution from the Near East. To test these hypotheses, we obtained mtDNA sequences from 2,099 modern and ancient pig samples and 63 nuclear ancient genomes from Near Eastern and European pigs. Our analyses revealed that European domestic pigs dating from 7,100 to 6,000 y BP possessed both Near Eastern and European nuclear ancestry, while later pigs possessed no more than 4% Near Eastern ancestry, indicating that gene flow from European wild boars resulted in a near-complete disappearance of Near East ancestry. In addition, we demonstrate that a variant at a locus encoding black coat color likely originated in the Near East and persisted in European pigs. Altogether, our results indicate that while pigs were not independently domesticated in Europe, the vast majority of human-mediated selection over the past 5,000 y focused on the genomic fraction derived from the European wild boars, and not on the fraction that was selected by early Neolithic farmers over the first 2,500 y of the domestication process.
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- Medin, J., et al.
(författare)
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Development and Validation of the AFSymp (TM) : An Atrial Fibrillation-Specific Measure of Patient-Reported Symptoms
- 2014
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Ingår i: Patient-Patient Centered Outcomes Research. - : Springer Science and Business Media LLC. - 1178-1653 .- 1178-1661. ; 7:3, s. 319-327
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Tidskriftsartikel (refereegranskat)abstract
- Background Patients with atrial fibrillation (AF) can be severely incapacitated by symptoms, but validated symptom measures are lacking. The aim of this study was to develop an AF-specific symptom questionnaire (AFSymp(TM)). Methods Following a literature review, qualitative interviews with 91 patients (United States [US], n = 30; United Kingdom [UK], n = 16; France, n = 15; Germany, n = 15; Japan, n = 15) with paroxysmal, persistent, and permanent AF were conducted to identify emergent concepts and to develop the items and response options for the AFSymp(TM). Clinical experts (n = 21) in the US, the UK, France, Germany, and Japan provided feedback on the most clinically relevant symptoms via an email survey. Cognitive interviews with 30 patients were conducted to evaluate content validity. A prospective, observational, psychometric evaluation study (n = 313) consisting of two study visits was performed at 32 sites across the US. Results After item reduction, the AFSymp(TM) consisted of 11 items with a 1-week recall period. Exploratory and confirmatory factor analysis resulted in three subscales (heart symptoms, tiredness, chest discomfort) and two items: dizziness and shortness of breath. Internal consistency was strong across subscales (Cronbach's a 0.82-0.91). The test-retest reliability of items and subscales was acceptable (intra-class correlation [ICC] 0.58-0.78). The reproducibility of the single global score was strong (ICC 0.78). The construct and known-groups validity was acceptable. Conclusion The AFSymp(TM) demonstrates evidence of reliability and validity as a comprehensive measure of AF symptoms that can be used to assess patient outcomes in clinical and research settings. More research is needed to evaluate the instrument's responsiveness.
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- Tolley, C., et al.
(författare)
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Qualitative interviews to inform development of a patient reported outcome (PRO) strategy in RLBP1 retinitis pigmentosa (RLBP1 RP)
- 2017
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Ingår i: Value in Health. - : ELSEVIER SCIENCE INC. - 1098-3015 .- 1524-4733. ; 20:9, s. A761-A761
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Objectives: RLBP1 RP is a rare autosomal recessive form of retinitis pigmentosa (RP), characterized by night blindness, prolonged dark adaptation, constricted visual fields and reduced macular function. This study aimed to better understand the patient experience of RLBP1 RP and to evaluate the content validity of existing patient reported outcome (PRO) instruments in this condition. Methods: This qualitative study involved 90 minute, semi-structured, concept elicitation and cognitive debriefing interviews with patients with RLBP1 RP in Canada (n=10) and Sweden (n=11). Qualitative analysis of anonymized, verbatim transcripts was performed using Atlas.Ti software and thematic analysis methods. Participants were cognitively debriefed on The National Eye Institute Visual Functioning Questionnaire (NEI VFQ-25), Low Luminance Questionnaire (LLQ) and four items of the Visual Activities Questionnaire (VAQ). Results: Fourteen visual symptoms were reported. The symptoms most frequently reported were night blindness (n=21), difficulty adapting to changes in lighting (n=21) and difficulties seeing in bright lighting (n=18). Impacts on daily activities (n=21) and physical functioning (n=17) were important to participants. Other domains of quality of life affected included social functioning (n=21), emotional functioning (n=19), work and education (n=18), and psychological functioning (n=17). Participant understanding and interpretation of the NEI VFQ-25 and LLQ was mixed. Patients reported that examples in single items represented different levels of functional impairment. In addition, some items did not specify what lighting conditions should be considered when responding. LLQ items were more relevant to RLBP1 RP than NEI VFQ-25 items. The four VAQ items assessing light/dark adaptation were well understood and relevant to participants. There were both gaps and overlaps in conceptual coverage of the instruments. Conclusions: The symptoms of RLBP1 RP have a substantial impact on patients’ daily lives and physical functioning. Issues have been identified with conceptual coverage, rel- evance and patient understanding of the NEI VFQ-25, LLQ and VAQ in RLBP1 RP.
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