| 331. |
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| 332. |
- Margaryan, Ashot, et al.
(författare)
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Population genomics of the Viking world
- 2020
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 585:7825, s. 390-396
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Tidskriftsartikel (refereegranskat)abstract
- The maritime expansion of Scandinavian populations during the Viking Age (about ad 750–1050) was a far-flung transformation in world history1,2. Here we sequenced the genomes of 442 humans from archaeological sites across Europe and Greenland (to a median depth of about 1×) to understand the global influence of this expansion. We find the Viking period involved gene flow into Scandinavia from the south and east. We observe genetic structure within Scandinavia, with diversity hotspots in the south and restricted gene flow within Scandinavia. We find evidence for a major influx of Danish ancestry into England; a Swedish influx into the Baltic; and Norwegian influx into Ireland, Iceland and Greenland. Additionally, we see substantial ancestry from elsewhere in Europe entering Scandinavia during the Viking Age. Our ancient DNA analysis also revealed that a Viking expedition included close family members. By comparing with modern populations, we find that pigmentation-associated loci have undergone strong population differentiation during the past millennium, and trace positively selected loci—including the lactase-persistence allele of LCT and alleles of ANKA that are associated with the immune response—in detail. We conclude that the Viking diaspora was characterized by substantial transregional engagement: distinct populations influenced the genomic makeup of different regions of Europe, and Scandinavia experienced increased contact with the rest of the continent.
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| 333. |
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| 334. |
- Mataix-Cols, D, et al.
(författare)
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Cognitive-behavioural therapy with post-session D-cycloserine augmentation for paediatric obsessive-compulsive disorder: pilot randomised controlled trial
- 2014
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Ingår i: The British journal of psychiatry : the journal of mental science. - : Royal College of Psychiatrists. - 1472-1465. ; 204:1, s. 77-78
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Tidskriftsartikel (refereegranskat)abstract
- A partial N-methyl-d-aspartate agonist, d-cycloserine, enhances fear extinction when given before or shortly after exposure to feared stimuli in animals. In this pilot double-blind placebo-controlled trial (trial number: ISRCTN70977225), 27 youth with obsessive–compulsive disorder were randomised to either 50mg d-cycloserine or placebo administered immediately after each of ten cognitive–behavioural therapy (CBT) sessions, primarily consisting of exposure and ritual prevention. Both groups improved significantly and maintained their gains at 1-year follow-up, with no significant advantage of d-cycloserine over placebo at any time point. The effects of CBT may not be augmented or accelerated when d-cycloserine is administered after sessions.
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| 335. |
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| 336. |
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| 337. |
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| 338. |
- Miravitlles, Marc, et al.
(författare)
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Clinical and functional characteristics of individuals with alpha-1 antitrypsin deficiency : EARCO international registry
- 2022
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Ingår i: Respiratory Research. - : Springer Science and Business Media LLC. - 1465-9921 .- 1465-993X. ; 23:1
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Tidskriftsartikel (refereegranskat)abstract
- Background: Alpha-1 antitrypsin deficiency (AATD) is a rare disease that is associated with an increased risk of pulmonary emphysema. The European AATD Research Collaboration (EARCO) international registry was founded with the objective of characterising the individuals with AATD and investigating their natural history. Methods: The EARCO registry is an international, observational and prospective study of individuals with AATD, defined as AAT serum levels < 11 μM and/or proteinase inhibitor genotypes PI*ZZ, PI*SZ and compound heterozygotes or homozygotes of other rare deficient variants. We describe the characteristics of the individuals included from February 2020 to May 2022. Results: A total of 1044 individuals from 15 countries were analysed. The most frequent genotype was PI*ZZ (60.2%), followed by PI*SZ (29.2%). Among PI*ZZ patients, emphysema was the most frequent lung disease (57.2%) followed by COPD (57.2%) and bronchiectasis (22%). Up to 76.4% had concordant values of FEV1(%) and KCO(%). Those with impairment in FEV1(%) alone had more frequently bronchiectasis and asthma and those with impairment in KCO(%) alone had more frequent emphysema and liver disease. Multivariate analysis showed that advanced age, male sex, exacerbations, increased blood platelets and neutrophils, augmentation and lower AAT serum levels were associated with worse FEV1(%). Conclusions: EARCO has recruited > 1000 individuals with AATD from 15 countries in its first 2 years. Baseline cross sectional data provide relevant information about the clinical phenotypes of the disease, the patterns of functional impairment and factors associated with poor lung function. Trial registrationwww.clinicaltrials.gov
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| 339. |
- Miravitlles, Marc, et al.
(författare)
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European Respiratory Society statement : Diagnosis and treatment of pulmonary disease in α1-antitrypsin deficiency
- 2017
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Ingår i: European Respiratory Journal. - : European Respiratory Society (ERS). - 0903-1936 .- 1399-3003. ; 50:5
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Tidskriftsartikel (refereegranskat)abstract
- α1-antitrypsin deficiency (AATD) is the most common hereditary disorder in adults. It is associated with an increased risk of developing pulmonary emphysema and liver disease. The pulmonary emphysema in AATD is strongly linked to smoking, but even a proportion of never-smokers develop progressive lung disease. A large proportion of individuals affected remain undiagnosed and therefore without access to appropriate care and treatment. The most recent international statement on AATD was published by the American Thoracic Society and the European Respiratory Society in 2003. Since then there has been a continuous development of novel, more accurate and less expensive genetic diagnostic methods. Furthermore, new outcome parameters have been developed and validated for use in clinical trials and a new series of observational and randomised clinical trials have provided more evidence concerning the efficacy and safety of augmentation therapy, the only specific treatment available for the pulmonary disease associated with AATD. As AATD is a rare disease, it is crucial to organise national and international registries and collect information prospectively about the natural history of the disease. Management of AATD patients must be supervised by national or regional expert centres and inequalities in access to therapies across Europe should be addressed.
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| 340. |
- Mishra, Prashant, et al.
(författare)
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Electrocatalytic biofuel cell based on highly efficient metal-polymer nano-architectured bioelectrodes
- 2017
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Ingår i: Nano Energy. - : ELSEVIER SCIENCE BV. - 2211-2855 .- 2211-3282. ; 39, s. 601-607
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Tidskriftsartikel (refereegranskat)abstract
- Bioenergy based devices are rapidly gaining significant research interest because of growing quest for future alternative energy resources, but most of the existing technologies suffer from poor electron transfer and slow mass transport, which hinder the fabrication of realistic high-power devices. Using a versatile strategy, here we have demonstrated the fabrication of nanoparticle-polymer framework based bioelectrocatalytic interfaces which facilitate a high mass-transport and thus offers the simple construction of advanced enzyme-based biofuel cells. It has been shown that a gold nanoparticle-structured polyaniline network can be effectively used as an electrical cabling interface providing efficient electron transfer for bio-anode and cathode. The resulting bioelectrodes are capable of excellent diffusional mass-transport and thus can easily facilitate the design of new and highly efficient membrane-less advanced bioenergy devices. The biofuel cell delivers a high-power density of about 2.5 times (i.e., 685 mu W cm(-2)) and open circuit voltage of 760 mV compared to conventional conducting polymer-based biofuel cells.
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