| 1. |
- Bradnam, K. R., et al.
(författare)
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Assemblathon 2 : Evaluating de novo methods of genome assembly in three vertebrate species
- 2013
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Ingår i: GigaScience. - : BioMed Central (BMC). - 2047-217X. ; 2:1
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Tidskriftsartikel (refereegranskat)abstract
- Background: The process of generating raw genome sequence data continues to become cheaper, faster, and more accurate. However, assembly of such data into high-quality, finished genome sequences remains challenging. Many genome assembly tools are available, but they differ greatly in terms of their performance (speed, scalability, hardware requirements, acceptance of newer read technologies) and in their final output (composition of assembled sequence). More importantly, it remains largely unclear how to best assess the quality of assembled genome sequences. The Assemblathon competitions are intended to assess current state-of-the-art methods in genome assembly. Results: In Assemblathon 2, we provided a variety of sequence data to be assembled for three vertebrate species (a bird, a fish, and snake). This resulted in a total of 43 submitted assemblies from 21 participating teams. We evaluated these assemblies using a combination of optical map data, Fosmid sequences, and several statistical methods. From over 100 different metrics, we chose ten key measures by which to assess the overall quality of the assemblies. Conclusions: Many current genome assemblers produced useful assemblies, containing a significant representation of their genes and overall genome structure. However, the high degree of variability between the entries suggests that there is still much room for improvement in the field of genome assembly and that approaches which work well in assembling the genome of one species may not necessarily work well for another.
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| 2. |
- Clark, Andrew G., et al.
(författare)
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Evolution of genes and genomes on the Drosophila phylogeny
- 2007
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 450:7167, s. 203-218
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Tidskriftsartikel (refereegranskat)abstract
- Comparative analysis of multiple genomes in a phylogenetic framework dramatically improves the precision and sensitivity of evolutionary inference, producing more robust results than single-genome analyses can provide. The genomes of 12 Drosophila species, ten of which are presented here for the first time (sechellia, simulans, yakuba, erecta, ananassae, persimilis, willistoni, mojavensis, virilis and grimshawi), illustrate how rates and patterns of sequence divergence across taxa can illuminate evolutionary processes on a genomic scale. These genome sequences augment the formidable genetic tools that have made Drosophila melanogaster a pre-eminent model for animal genetics, and will further catalyse fundamental research on mechanisms of development, cell biology, genetics, disease, neurobiology, behaviour, physiology and evolution. Despite remarkable similarities among these Drosophila species, we identified many putatively non-neutral changes in protein-coding genes, non-coding RNA genes, and cis-regulatory regions. These may prove to underlie differences in the ecology and behaviour of these diverse species.
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| 3. |
- Armbrecht, Gabriele, et al.
(författare)
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Degenerative inter-vertebral disc disease osteochondrosis intervertebralis in Europe : Prevalence, geographic variation and radiological correlates in men and women aged 50 and over
- 2017
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Ingår i: Rheumatology. - : Oxford University Press (OUP). - 1462-0324 .- 1462-0332. ; 56:7, s. 1189-1199
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Tidskriftsartikel (refereegranskat)abstract
- Objectives. To assess the prevalences across Europe of radiological indices of degenerative inter-vertebral disc disease (DDD); and to quantify their associations with, age, sex, physical anthropometry, areal BMD (aBMD) and change in aBMD with time. Methods. In the population-based European Prospective Osteoporosis Study, 27 age-stratified samples of men and women from across the continent aged 50+ years had standardized lateral radiographs of the lumbar and thoracic spine to evaluate the severity of DDD, using the Kellgren-Lawrence (KL) scale. Measurements of anterior, mid-body and posterior vertebral heights on all assessed vertebrae from T4 to L4 were used to generate indices of end-plate curvature. Results. Images from 10 132 participants (56% female, mean age 63.9 years) passed quality checks. Overall, 47% of men and women had DDD grade 3 or more in the lumbar spine and 36% in both thoracic and lumbar spine. Risk ratios for DDD grades 3 and 4, adjusted for age and anthropometric determinants, varied across a three-fold range between centres, yet prevalences were highly correlated in men and women. DDD was associated with flattened, non-ovoid inter-vertebral disc spaces. KL grade 4 and loss of inter-vertebral disc space were associated with higher spine aBMD. Conclusion. KL grades 3 and 4 are often used clinically to categorize radiological DDD. Highly variable European prevalences of radiologically defined DDD grades 3+ along with the large effects of age may have growing and geographically unequal health and economic impacts as the population ages. These data encourage further studies of potential genetic and environmental causes.
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| 4. |
- Armbrecht, G., et al.
(författare)
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Vertebral Scheuermann's disease in Europe: prevalence, geographic variation and radiological correlates in men and women aged 50 and over
- 2015
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Ingår i: Osteoporosis International. - : Springer Science and Business Media LLC. - 1433-2965 .- 0937-941X. ; 26:10, s. 2509-2519
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Tidskriftsartikel (refereegranskat)abstract
- The Summary In 27 centres across Europe, the prevalence of deforming spinal Scheuermann's disease in age-stratified population-based samples of over 10,000 men and women aged 50+ averaged 8 % in each sex, but was highly variable between centres. Low DXA BMD was un-associated with Scheuermann's, helping the differential diagnosis from osteoporosis. Introduction This study aims to assess the prevalence of Scheuermann's disease of the spine across Europe in men and women over 50 years of age, to quantitate its association with bone mineral density (BMD) and to assess its role as a confounder for the radiographic diagnosis of osteoporotic fracture. Methods In 27 centres participating in the population-based European Vertebral Osteoporosis Study (EVOS), standardised lateral radiographs of the lumbar and of the thoracic spine from T4 to L4 were assessed in all those of adequate quality. The presence of Scheuermann's disease, a confounder for prevalent fracture in later life, was defined by the presence of at least one Schmorl's node or irregular endplate together with kyphosis (sagittal Cobb angle > 40A degrees between T4 and T12) or a wedged-shaped vertebral body. Alternatively, the (rare) Edgren-Vaino sign was taken as diagnostic. The 6-point-per-vertebral-body (13 vertebrae) method was used to assess osteoporotic vertebral shape and fracture caseness. DXA BMD of the L2-L4 and femoral neck regions was measured in subsets. We also assessed the presence of Scheuermann's by alternative published algorithms when these used the radiographic signs we assessed. Results Vertebral radiographic images from 4486 men and 5655 women passed all quality checks. Prevalence of Scheuermann's varied considerably between centres, and based on random effect modelling, the overall European prevalence using our method was 8 % with no significant difference between sexes. The highest prevalences were seen in Germany, Sweden, the UK and France and low prevalences were seen in Hungary, Poland and Slovakia. Centre-level prevalences in men and women were highly correlated. Scheuermann's was not associated with BMD of the spine or hip. Conclusions Since most of the variation in population impact of Scheuermann's was unaccounted for by the radiological and anthropometric data, the search for new genetic and environmental determinants of this disease is encouraged.
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| 5. |
- Ameller, D., et al.
(författare)
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Handling Non-functional Requirements in Model-Driven Development: An Ongoing Industrial Survey
- 2015
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Ingår i: 2015 IEEE 23rd International Requirements Engineering Conference (Re). - : IEEE. - 9781467369053
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Konferensbidrag (refereegranskat)abstract
- Model-Driven Development (MDD) is no longer a novel development paradigm. It has become mature from a research perspective and recent studies show its adoption in industry. Still, some issues remain a challenge. Among them, we are interested in the treatment of non-functional requirements (NFRs) in MDD processes. Very few MDD approaches have been reported to deal with NFRs (and they do it in a limited way). However, it is clear that NFRs need to be considered somehow in the final product of the MDD process. To better understand how NFRs are integrated into the existing MDD approaches, we have initiated the NFR4MDD project, a multi-national empirical study, based on interviews with companies working on MDD projects. Our project aims at surveying the state of the practice for this topic. In this paper, we summarize our research protocol and present the current status of our study. The discussion will focus on the peculiarities of our study's context and organization involving about 20 researchers from 8 European countries.
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| 6. |
- Katsarou, Anastasia, et al.
(författare)
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Type 1 diabetes mellitus
- 2017
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Ingår i: Nature Reviews Disease Primers. - : Springer Science and Business Media LLC. - 2056-676X. ; 3
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Tidskriftsartikel (refereegranskat)abstract
- Type 1 diabetes mellitus (T1DM), also known as autoimmune diabetes, is a chronic disease characterized by insulin deficiency due to pancreatic beta-cell loss and leads to hyperglycaemia. Although the age of symptomatic onset is usually during childhood or adolescence, symptoms can sometimes develop much later. Although the aetiology of T1DM is not completely understood, the pathogenesis of the disease is thought to involve T cell-mediated destruction of beta-cells. Islet-targeting autoantibodies that target insulin, 65 kDa glutamic acid decarboxylase, insulinoma-associated protein 2 and zinc transporter 8 - all of which are proteins associated with secretory granules in beta-cells -are biomarkers of T1DM-associated autoimmunity that are found months to years before symptom onset, and can be used to identify and study individuals who are at risk of developing T1DM. The type of autoantibody that appears first depends on the environmental trigger and on genetic factors. The pathogenesis of T1DM can be divided into three stages depending on the absence or presence of hyperglycaemia and hyperglycaemia-associated symptoms (such as polyuria and thirst). A cure is not available, and patients depend on lifelong insulin injections; novel approaches to insulin treatment, such as insulin pumps, continuous glucose monitoring and hybrid closed-loop systems, are in development. Although intensive glycaemic control has reduced the incidence of microvascular and macrovascular complications, the majority of patients with T1DM are still developing these complications. Major research efforts are needed to achieve early diagnosis, prevent beta-cell loss and develop better treatment options to improve the quality of life and prognosis of those affected.
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| 7. |
- Ross, I L, et al.
(författare)
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Increased Cardiovascular Risk in South African Patients with Addison's Disease.
- 2013
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Ingår i: Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et métabolisme. - : Georg Thieme Verlag KG. - 1439-4286. ; 45:12, s. 905-10
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Tidskriftsartikel (refereegranskat)abstract
- Patients with Addison's disease (AD) are believed to be at risk for cardiovascular disease (CVD). South Africa, like the rest of the developing world is experiencing an increase in CVD and patients with AD may be at double the risk of their peers. We wished to explore AD patients' CVD risk factors. A cross-sectional nationwide study in South Africa of patients with AD was conducted. A cohort of 147 patients with AD and 147 healthy control subjects were matched by age, gender, ethnicity, and BMI as far as was possible. Lipoproteins and highly-sensitive C-reactive-protein (hs-CRP) were the main outcome measures. AD patients had significantly higher triglycerides; (p=0.001), lower HDLC (p<0.001), higher hs-CRP (p<0.001), and more small dense LDL; (p=0.002) than controls. Nonesterified fatty acids were lower in patients (p<0.001). Approximately 65% [95% confidence interval (CI 55.6-72.4%)] had hypercholesterolaemia, 75% (CI 64.8-81.2%) had low HDLC, and 75% (CI 68.0-84.1%) had a higher LDLC. Thirteen percent of AD patients had diabetes mellitus, but none of the risk factors differed from the nondiabetics. Only HDLC correlated positively with daily hydrocortisone dose (r=0.32; p=0.005). In conclusion dyslipidaemia is common in South African AD patients; CVD risk assessment and intervention are probably warranted in the management of these patients.
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| 8. |
- Ross, I. L., et al.
(författare)
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Investigation of glucocorticoid receptor polymorphisms in relation to metabolic parameters in Addison's disease
- 2013
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Ingår i: European Journal of Endocrinology. - 0804-4643 .- 1479-683X. ; 168, s. 403-412
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Tidskriftsartikel (refereegranskat)abstract
- Background Uncertainty exists whether glucocorticoid receptor (GCR) polymorphisms play a role in steroid-related side effects in Addison's disease (AD) patients on hydrocortisone. The polymorphisms Bcll and N363S appear to increase sensitivity to cortisol, while the ER22/23EK polymorphism has been associated with resistance to cortisol. Method One hundred and forty seven AD patients, and gender, and ethnicity-matched controls were recruited in South Africa. Three polymorphisms in the GCR were studied, using PCR followed by restriction fragment length analysis. Associations with BMI, lipids, glucose and inflammatory markers were investigated. Results In both patients and controls, the Bcll polymorphism occurred more frequently in whites than in other ethnic groups studied but was not associated with any of the metabolic parameters tested. The ER22/23EK polymorphism was associated with an increased BMI in both patients (29.4 vs 24.7kg/m2) and control subjects (26.3 vs 24.2kg/m2). The ER22/23EK polymorphism was also associated with lower LDL cholesterol in control subjects (3.46 vs 3.93mmol/l) and in patients (3.52 vs 4.10mmol/l). N363S was associated with increased BMI in controls 29.9kg/m2 vs wild type 24.8kg/m2. Median hydrocortisone doses were greater in patients heterozygous for either ER22/23EK 30.0mg or N363S 25.0mg polymorphisms than in wild type patients 20.0mg (both comparisons). Conclusion Alterations in lipids, BMI and hydrocortisone dose were associated with two polymorphisms. Further larger studies are warranted to corroborate these findings.
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| 9. |
- Ross, I. L., et al.
(författare)
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Salivary Cortisol Day Curves in Addison's Disease in Patients on Hydrocortisone Replacement
- 2013
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Ingår i: Hormone and Metabolic Research. - : Georg Thieme Verlag KG. - 0018-5043 .- 1439-4286. ; 45:1, s. 62-68
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Tidskriftsartikel (refereegranskat)abstract
- Using salivary cortisol (SC) measurements, cortisol exposure in Addison's disease patients on hydrocortisone replacement was determined and compared with healthy controls. Cortisol pharmacokinetics was assessed in 31 patients with Addison's disease on replacement hydrocortisone doses ( median daily dose 20mg; range 5-50mg) and 30 healthy control subjects. Saliva samples (n=16) were collected between 08:00 and 00:00h in 1 day, using a passive drool technique. Cortisol exposure was evaluated by noncompartmental approach. In the patients, cortisol exposure was significantly higher than in controls: median inter-quartile range (IQR) peak cortisol (C-max ) 174.5 (59.3-837.0) vs. 6.50 (4.7-19.3) nmol/l, p=0.0001; area under the curve (AUC) 390.1 (177.1-928.9) vs. 21.4 (14.6-28.4) minutes*nmol/l, p=0.0001, trough cortisol level (C-min) 0.49 (0.49-0.96) vs. 0.49 (0.49-0.49) nmol/l, p=0.02, occurring at 480.0 (0.1- 660.0) vs. 405.0 (180.0-570.0) min, p=0.56. First peak cortisol was 174.5 (53.0-754.7) vs. 6.27 (3.90-8.47 ) nmol/l, p=0.0001 and second peak cortisol 18.90 (5.22-76.9) vs. 3.12 (1.76-4.79) nmol/l, p=0.0001. The time to first peak cortisol differed between the 2 groups, 30 (30-75) vs. 0.1 (0.1-30) minutes; p=0.0001. At doses studied, hydrocortisone replacement therapy results in cortisol pharmacokinetics being markedly different from endogenous cortisol profiles in healthy control subjects. Addison's disease patients had significantly higher SC levels compared to healthy control subjects.
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| 10. |
- Al-Barki, Abdulrahman, et al.
(författare)
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Comparison of short-pulse subthreshold (532 nm) and infrared micropulse (810 nm) macular laser for diabetic macular edema
- 2021
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Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 11:1
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Tidskriftsartikel (refereegranskat)abstract
- The purpose of the study was to assess both anatomic and functional outcomes between short-pulse continuous wavelength and infrared micropulse lasers in the treatment of DME. This was a prospective interventional study from tertiary care eye hospital—King Khaled Eye Specialist Hospital (Riyadh, Saudi Arabia). Patients with center-involving diabetic macular edema were treated with subthreshold laser therapy. Patients in the micropulse group were treated with the 810-nm diode micropulse scanning laser TxCell (IRIDEX Corporation, Mountain View, CA, USA) (subthreshold micropulse—STMP group). Laser was applied according to recommendations for MicroPulse (125 microns spot size, 300 ms pulse duration and power adjustment following barely visible testing burn) in a confluent mode (low intensity/high density) to the entire area of the macular edema. Patients in the short-pulse group were treated with grid pattern laser with 20 ms pulse PASCAL laser 532 nm (TopCon Medical Laser Systems, Tokyo, Japan) with EndPoint algorithm, which was either 30% or 50% of testing burn (EndPoint 30% and EndPoint 50% groups, respectively). Main outcome measures included best-corrected visual acuity (BCVA in logMAR) and foveal thickness at baseline and the last follow-up visit at 6 months. There were 44 eyes in the micropulse group, 54 eyes in the EndPoint 50% group and 18 eyes in the EndPoint 30% group. BCVA for the whole cohort (logMAR) was 0.451 (Snellen equivalent 20/56) at baseline, 0.495 (Snellen equivalent 20/62) (p = 0.053) at 3 months, and 0.494 (Snellen equivalent 20/62) at the last follow-up (p = 0.052). Foveal thickness for the whole cohort was 378.2 ± 51.7 microns at baseline, 347.2 ± 61.3 microns (p = 0.002) at 3 months, and 346.0 ± 24.6 microns at the final follow-up (p = 0.027). As such the short-pulse system yields more temporary reduction in edema. Comparison of BCVA between baseline and 6 months for EndPoint 30%, EndPoint 50% and STMP groups was p = 0.88, p = 0.76 and p = 0.003, respectively. Comparison of foveal thickness between baseline and 6 months for EndPoint 30%, EndPoint 50% and STMP groups was p = 0.38, p = 0.22 and p = 0.14, respectively. We conclude that the infrared micropulse system seems to improve functional outcomes. When applied according to previously published reports, short-pulse system may yield more temporary reduction in edema while infrared micropulse system may yield slightly better functional outcomes.
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| 11. |
- Che, D., et al.
(författare)
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200-Gb/s Direct Modulation of a 50-GHz Class Laser with Advanced Digital Modulations
- 2021
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Ingår i: Journal of Lightwave Technology. - : Institute of Electrical and Electronics Engineers Inc.. - 0733-8724 .- 1558-2213. ; 39:3, s. 845-852
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Tidskriftsartikel (refereegranskat)abstract
- Directly modulated lasers (DML) dominate the short reach optical interconnect market. For years, the bandwidth of commercial DMLs has been limited to a level of 25 GHz, which can support a speed up to around 100 Gb/s via advanced modulations like Nyquist-shaped 4-ary pulse amplitude modulation (PAM-4), carrier-less amplitude phase (CAP) modulation, subcarrier multiplexing, and discrete multitone (DMT). To scale with the capacity evolution of interconnect applications, it is in urgent demand to develop DMLs operated at 50G class and even beyond. In this article, we exploit a newly designed 50G-class short-cavity distributed Bragg reflector (DBR) laser, called the two-κ DBR laser, and demonstrate its capability of supporting 200 Gb/s per wavelength direct modulation and direct detection transmissions. Combining high-speed electronics with the 50G-class DML, we demonstrate a variety of advanced digital modulations including Nyquist-shaped 100-GBaud PAM-4, 80-GBaud PAM-8, and 50-GHz DMT signals, with the maximum net bit rate of 236 Gb/s. The DML exhibits an ultra-low chirp parameter of 1.0, which enables isolator-free operation and dispersion-tolerant transmission over tens of kilometers at O-band.
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| 12. |
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| 13. |
- Che, D., et al.
(författare)
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Long-term reliable >200-Gb/s directly modulated lasers with 800GbE-compliant DSP
- 2021
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Ingår i: Optics InfoBase Conference Papers. - : Optica Publishing Group.
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Konferensbidrag (refereegranskat)abstract
- We demonstrate the long-term reliable operation of a 70-GHz-class DFB+R laser and its capability of 108-GBd PAM-4 signaling under +4.8-ps/nm dispersion using ultra-low complexity equalizations as well as faster-than-Nyquist PAM-2 signaling up to 280 GBd.
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| 14. |
- Coulson, S. J., et al.
(författare)
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Introduction of invertebrates into the High Arctic via imported soils: the case of Barentsburg in the Svalbard
- 2013
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Ingår i: Biological Invasions. - : Springer Science and Business Media LLC. - 1387-3547 .- 1573-1464. ; 15:1, s. 1-5
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Tidskriftsartikel (refereegranskat)abstract
- Forty six species of invertebrate were collected from the manure enriched imported soils below the abandoned cow sheds in the Russian mining town of Barentsburg, Svalbard. Of these, 11 (24 %) were new records for Svalbard, including Collembola, gamasid mites, Enchytraeidae and the first identified Lumbricidae. Many of the new records are species not frequently observed in the Arctic. It is hypothesized that these species arrived with the chernozem soils imported to Barentsburg for the greenhouses from central or southern European Russia, or with livestock. The observations presented here are the first records of human invertebrate introductions establishing in Svalbard outside of dwellings. It is not believed that the majority of new species records described present an immediate threat to the ecology of Svalbard but they may, especially Deuteraphorura variabilis, establish in the nutrient enriched floral communities beneath bird cliffs characteristic of Svalbard.
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| 15. |
- Coulson, S. J., et al.
(författare)
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The invertebrate fauna of anthropogenic soils in the High-Arctic settlement of Barentsburg, Svalbard
- 2013
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Ingår i: Polar Research. - : Norwegian Polar Institute. - 0800-0395 .- 1751-8369. ; 32
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Tidskriftsartikel (refereegranskat)abstract
- The terrestrial environment of the High Arctic consists of a mosaic of habitat types. In addition to the natural habitat diversity, various human-influenced types may occur. For the resident invertebrate fauna, these anthropogenic habitats may be either unusually favourable or detrimental. In the town of Barentsburg, Svalbard, soils were imported for the greenhouses from southern Russia. These soils were subsequently discarded outside the greenhouses and have become augmented with manure from the cowsheds. Both the greenhouse and the cowsheds are now derelict. This site represents an unusually nutrient-rich location with considerable development of organic soils, in stark contrast to the naturally forming organic soils in Svalbard, which are typically thin and nutrient poor. Few previous studies have examined the soil invertebrate communities of human-disturbed or -created habitats in the Arctic. In an often nutrient-poor terrestrial environment, it is unclear how the invertebrate fauna will react to such nutrient enhancement. In these soils, 46 species of invertebrates were determined. Eleven species have not been recorded from other habitats in Svalbard and are hence likely to have been introduced. The native species assemblage in the anthropogenic soils was not atypical for many natural sites in Svalbard. Despite the enriched organic soils and highly ameliorated winter temperature conditions, the soil invertebrate fauna biodiversity does not appear to be enhanced beyond the presence of certain probably introduced species.
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| 16. |
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| 17. |
- Dely, H., et al.
(författare)
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High bitrate data transmission in the 8-14 µm atmospheric window using an external Stark-effect modulator with digital equalization
- 2023
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Ingår i: Optics Express. - : Optica Publishing Group (formerly OSA). - 1094-4087. ; 31:5, s. 7259-7264
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Tidskriftsartikel (refereegranskat)abstract
- High bitrate mid-infrared links using simple (NRZ) and multi-level (PAM-4) data coding schemes have been realized in the 8 µm to 14 µm atmospheric transparency window. The free space optics system is composed of unipolar quantum optoelectronic devices, namely a continuous wave quantum cascade laser, an external Stark-effect modulator and a quantum cascade detector, all operating at room-temperature. Pre- and post-processing are implemented to get enhanced bitrates, especially for PAM-4 where inter-symbol interference and noise are particularly detrimental to symbol demodulation. By exploiting these equalization procedures, our system, with a full frequency cutoff of 2 GHz, has reached transmission bitrates of 12 Gbit/s NRZ and 11 Gbit/s PAM-4 fulfilling the 6.25 % overhead hard-decision forward error correction threshold, limited only by the low signal-to-noise ratio of our detector.
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| 18. |
- Giuliani, G., et al.
(författare)
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Round-Robin Measurements of Linewidth Enhancement Factor of Semiconductor Lasers in COST 288 Action
- 2007
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Ingår i: Lasers and Electro-Optics, 2007 and the International Quantum Electronics Conference. CLEOE-IQEC 2007. European Conference on. - 1424409306 - 9781424409303 ; , s. 4385967-
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Konferensbidrag (refereegranskat)abstract
- Round-robin measurements on the linewidth enhancement factor are carried out in many laboratories participating to EU COST 288 Action. Up to 7 different techniques are applied to DFB, VCSELs, QCL, and QD lasers, and results are compared.
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| 19. |
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| 20. |
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| 21. |
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| 22. |
- Liu, Z. G., et al.
(författare)
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Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features
- 2023
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Ingår i: Human Molecular Genetics. - 0964-6906 .- 1460-2083. ; 32:20, s. 2981-2995
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Tidskriftsartikel (refereegranskat)abstract
- Protein phosphatase 1 regulatory subunit 3F (PPP1R3F) is a member of the glycogen targeting subunits (GTSs), which belong to the large group of regulatory subunits of protein phosphatase 1 (PP1), a major eukaryotic serine/threonine protein phosphatase that regulates diverse cellular processes. Here, we describe the identification of hemizygous variants in PPP1R3F associated with a novel X-linked recessive neurodevelopmental disorder in 13 unrelated individuals. This disorder is characterized by developmental delay, mild intellectual disability, neurobehavioral issues such as autism spectrum disorder, seizures and other neurological findings including tone, gait and cerebellar abnormalities. PPP1R3F variants segregated with disease in affected hemizygous males that inherited the variants from their heterozygous carrier mothers. We show that PPP1R3F is predominantly expressed in brain astrocytes and localizes to the endoplasmic reticulum in cells. Glycogen content in PPP1R3F knockout astrocytoma cells appears to be more sensitive to fluxes in extracellular glucose levels than in wild-type cells, suggesting that PPP1R3F functions in maintaining steady brain glycogen levels under changing glucose conditions. We performed functional studies on nine of the identified variants and observed defects in PP1 binding, protein stability, subcellular localization and regulation of glycogen metabolism in most of them. Collectively, the genetic and molecular data indicate that deleterious variants in PPP1R3F are associated with a new X-linked disorder of glycogen metabolism, highlighting the critical role of GTSs in neurological development. This research expands our understanding of neurodevelopmental disorders and the role of PP1 in brain development and proper function.
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| 23. |
- Lundgren, Markus, et al.
(författare)
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Analgesic antipyretic use among young children in the TEDDY study : No association with islet autoimmunity
- 2017
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Ingår i: BMC Pediatrics. - : Springer Science and Business Media LLC. - 1471-2431. ; 17:1
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Tidskriftsartikel (refereegranskat)abstract
- Background: The use of analgesic antipyretics (ANAP) in children have long been a matter of controversy. Data on their practical use on an individual level has, however, been scarce. There are indications of possible effects on glucose homeostasis and immune function related to the use of ANAP. The aim of this study was to analyze patterns of analgesic antipyretic use across the clinical centers of The Environmental Determinants of Diabetes in the Young (TEDDY) prospective cohort study and test if ANAP use was a risk factor for islet autoimmunity. Methods: Data were collected for 8542 children in the first 2.5 years of life. Incidence was analyzed using logistic regression with country and first child status as independent variables. Holm's procedure was used to adjust for multiplicity of intercountry comparisons. Time to autoantibody seroconversion was analyzed using a Cox proportional hazards model with cumulative analgesic use as primary time dependent covariate of interest. For each categorization, a generalized estimating equation (GEE) approach was used. Results: Higher prevalence of ANAP use was found in the U.S. (95.7%) and Sweden (94.8%) compared to Finland (78.1%) and Germany (80.2%). First-born children were more commonly given acetaminophen (OR 1.26; 95% CI 1.07, 1.49; p = 0.007) but less commonly Non-Steroidal Anti-inflammatory Drugs (NSAID) (OR 0.86; 95% CI 0.78, 0.95; p = 0.002). Acetaminophen and NSAID use in the absence of fever and infection was more prevalent in the U.S. (40.4%; 26.3% of doses) compared to Sweden, Finland and Germany (p < 0.001). Acetaminophen or NSAID use before age 2.5 years did not predict development of islet autoimmunity by age 6 years (HR 1.02, 95% CI 0.99-1.09; p = 0.27). In a sub-analysis, acetaminophen use in children with fever weakly predicted development of islet autoimmunity by age 3 years (HR 1.05; 95% CI 1.01-1.09; p = 0.024). Conclusions: ANAP use in young children is not a risk factor for seroconversion by age 6 years. Use of ANAP is widespread in young children, and significantly higher in the U.S. compared to other study sites, where use is common also in absence of fever and infection.
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| 24. |
- Matsui, Y., et al.
(författare)
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Isolator-Free > 67-GHz Bandwidth DFB+R Laser with Suppressed Chirp
- 2020
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Ingår i: 2020 Optical Fiber Communications Conference and Exhibition, OFC 2020 - Proceedings. - : Institute of Electrical and Electronics Engineers Inc..
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Konferensbidrag (refereegranskat)abstract
- We report on simultaneous realization of > 67 GHz bandwidth, a reflection tolerance up to 12.5 %, and a record-low chirp parameter of 0.6 for a DFB laser integrated with a passive waveguide with 3% reflection coating, called DFB+R laser.
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| 25. |
- Navarro, Jaime Rodrigo, et al.
(författare)
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Phase noise tolerant carrier recovery scheme for 28 Gbaud circular 16QAM
- 2015
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Ingår i: European Conference on Optical Communication, ECOC. - : Institute of Electrical and Electronics Engineers (IEEE). - 9788460817413
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Konferensbidrag (refereegranskat)abstract
- We propose a novel carrier phase recovery scheme for circular 16QAM coherent transmission systems. Experimental results show low penalties (<1.4 dB) even for linewidths where square 16QAM exhibits irretrievable (above the FEC limit) error floor.
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| 26. |
- Nene, Vishvanath, et al.
(författare)
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Genome sequence of Aedes aegypti, a major arbovirus vector.
- 2007
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Ingår i: Science (New York, N.Y.). - : American Association for the Advancement of Science (AAAS). - 1095-9203 .- 0036-8075. ; 316:5832, s. 1718-23
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Tidskriftsartikel (refereegranskat)abstract
- We present a draft sequence of the genome of Aedes aegypti, the primary vector for yellow fever and dengue fever, which at approximately 1376 million base pairs is about 5 times the size of the genome of the malaria vector Anopheles gambiae. Nearly 50% of the Ae. aegypti genome consists of transposable elements. These contribute to a factor of approximately 4 to 6 increase in average gene length and in sizes of intergenic regions relative to An. gambiae and Drosophila melanogaster. Nonetheless, chromosomal synteny is generally maintained among all three insects, although conservation of orthologous gene order is higher (by a factor of approximately 2) between the mosquito species than between either of them and the fruit fly. An increase in genes encoding odorant binding, cytochrome P450, and cuticle domains relative to An. gambiae suggests that members of these protein families underpin some of the biological differences between the two mosquito species.
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| 27. |
- Olmedo, Miguel Iglesias, et al.
(författare)
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Carrier recovery techniques for semiconductor laser frequency noise for 28 Gbd DP-16QAM
- 2015
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Ingår i: Optical Fiber Communication Conference, OFC 2015. - Washington, D.C. : IEEE. - 9781557529374
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Konferensbidrag (refereegranskat)abstract
- We report on the first experimental comparison of DD-PLL, two-stage feed forward, and two variations of extended Kalman filtering for tracking semiconductor laser frequency noise. We identify which carrier phase recovery technique works best depending on the carrier induced frequency noise profile.
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| 28. |
- Ozolins, Oskars, et al.
(författare)
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7×149 Gbit/s PAM4 transmission over 1 km multicore fiber for short-reach optical interconnects
- 2018
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Ingår i: Optics InfoBase Conference Papers. - : Optics Info Base, Optical Society of America. - 9781557528209
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Konferensbidrag (refereegranskat)abstract
- We transmit 80 Gbaud/λ/core PAM4 signal enabled by 1.55 μm EML over 1 km 7-core fiber. The solution achieves single-wavelength and single-fiber 1.04 Tbit/s post-FEC transmission enhancing bandwidth-density for short-reach optical interconnects.
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| 29. |
- Ozolins, Oskars, et al.
(författare)
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Error-Free 108 Gbps On-Off Keying Link for Optical Interconnect Applications
- 2022
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Ingår i: 2022 European Conference on Optical Communication, ECOC 2022. - : Institute of Electrical and Electronics Engineers Inc.. - 9781957171159
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Konferensbidrag (refereegranskat)abstract
- We demonstrate an error-free 108 Gbps OOK link using a C-band externally modulated laser with 3.3 dBm of modulated output power and an O-band directly modulated laser with 7.3 dBm of modulated output power. This paves the way forward for high-speed optical interconnects without FEC.
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| 30. |
- Pang, Xiaodan, Dr., et al.
(författare)
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200 Gb/s Unamplified IM/DD Transmission over 20-km SMF with an O-band Low-Chirp Directly Modulated Laser
- 2022
-
Ingår i: 2022 European Conference on Optical Communication, ECOC 2022. - : Institute of Electrical and Electronics Engineers Inc.. - 9781957171159
-
Konferensbidrag (refereegranskat)abstract
- 200 Gb/s IM/DD transmission over 20-km SMF is demonstrated without any optical amplifiers, achieving BER below the 6.25%-overhead HD-FEC limit, enabled by a broadband and high-power DML with low-complexity digital equalizations.
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| 31. |
- Pang, Xiaodan, et al.
(författare)
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Experimental Study of 1.55-μ m EML-Based Optical IM/DD PAM-4/8 Short Reach Systems
- 2017
-
Ingår i: IEEE Photonics Technology Letters. - : Institute of Electrical and Electronics Engineers Inc.. - 1041-1135 .- 1941-0174. ; 29:6, s. 523-526
-
Tidskriftsartikel (refereegranskat)abstract
- We experimentally evaluate high-speed intensity modulation/direct detection (IM/DD) transmissions with a 1.55-μ text broadband electro-Absorption modulated laser and pulse amplitude modulations (PAM). We demonstrate 80 Gb/s/ λ PAM-4 and 96 Gb/s/ λ PAM-8 transmissions with low-complexity digital equalizers at the receiver. Performance comparison with different types of equalizers are performed, including linear symbol-spaced feed-forward equalizer (FFE), fractional (half-symbol) spaced FFE and decision feedback equalizer (DFE), with different tap number. It is found that for both cases, a 6-Tap symbol-spaced FFE is sufficient to achieve a stable performance with bit-error-rate below the 7% overhead hard decision forward error correction (7%-OH HD-FEC) threshold over a 4 km standard single mode fiber link. Practical considerations including comparison between adaptive and static equalizer implementation and tolerable fiber chromatic dispersion are discussed.
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| 32. |
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| 33. |
- Piels, M., et al.
(författare)
-
Rate equation-based phase recovery for semiconductor laser coherent transmitters
- 2015
-
Ingår i: Optical Fiber Communication Conference, OFC 2015. - Washington, D.C. : OSA - The Optical Society. - 9781557529374
-
Konferensbidrag (refereegranskat)abstract
- We present a novel carrier recovery technique for coherent systems with semiconductor lasers that incorporates the laser dynamics. A sensitivity improvement of 8dB over a decisiondirected phase-locked loop is achieved experimentally for 28GBd DP-16QAM.
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| 34. |
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| 35. |
- Rosa, P., et al.
(författare)
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Unrepeatered 240-km 64-QAM transmission using distributed raman amplification over SMF fiber
- 2020
-
Ingår i: Applied Sciences. - : MDPI AG. - 2076-3417. ; 10:4
-
Tidskriftsartikel (refereegranskat)abstract
- We present a theoretical and experimental investigation of unrepeatered transmission over standard single-mode fiber (SMF-28) using several schemes of distributed Raman amplification, including first, second, and dual order. In order to further extend the transmission distance, we utilize advanced bidirectional higher-order ultra-long Raman fiber laser-based amplification, where we use fiber Bragg gratings (FBGs) to reflect Stokes-shifted light from the secondary pumps. Our work demonstrates the possibility of transmission up to 240-km span length with a total span loss of 52.7 dB. Here, we use a 28-Gbaud signal using a 64-quadrature amplitude modulation (QAM) modulation format. Our results highlight the contribution of nonlinear compensation using digital back propagation in a digital signal processor (DSP) code at the receiver. © 2020 by the authors. Licensee MDPI, Basel, Switzerland.
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| 36. |
- Sterner, Y, et al.
(författare)
-
Country-specific birth weight and length in type 1 diabetes high-risk HLA genotypes in combination with prenatal characteristics.
- 2011
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Ingår i: Journal of Perinatology. - : Springer Science and Business Media LLC. - 0743-8346 .- 1476-5543. ; 31, s. 764-769
-
Tidskriftsartikel (refereegranskat)abstract
- Objective:To examine the relationship between high-risk human leukocyte antigen (HLA) genotypes for type 1 diabetes and birth size in combination with prenatal characteristics in different countries.Study Design:Four high-risk HLA genotypes were enrolled in the Environmental determinants of Diabetes in the Young study newborn babies from the general population in Finland, Germany, Sweden and the United States. Stepwise regression analyses were used to adjust for country, parental physical characteristics and environmental factors during pregnancy.Result:Regression analyses did not reveal differences in birth size between the four type 1 diabetes high-risk HLA genotypes. Compared with DQ 4/8 in each country, (1) DQ 2/2 children were heavier in the United States (P=0.028) mostly explained however, by parental weight; (2) DQ 2/8 (P=0.023) and DQ 8/8 (P=0.046) children were longer in Sweden independent of parents height and as well as (3) in the United States for DQ 2/8 (P=0.023), but again dependent on parental height.Conclusion:Children born with type 1 diabetes high-risk HLA genotypes have comparable birth size. Longitudinal follow-up of these children should reveal whether birth size differences between countries contribute to the risk for islet autoimmunity and type 1 diabetes.Journal of Perinatology advance online publication, 28 April 2011; doi:10.1038/jp.2011.26.
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| 37. |
- Udalcovs, Aleksejs, et al.
(författare)
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MCF-enabled self-homodyne 16/64QAM transmission for SDM optical access networks
- 2018
-
Ingår i: Optics InfoBase Conference Papers. - : OSA - The Optical Society. - 9781557528209
-
Konferensbidrag (refereegranskat)abstract
- We experimentally demonstrate a 28-Gbaud circular and square 16/64QAM transmission over a 33.6-km long seven-core fiber with the LO passed through one of the cores for self-homodyne coherent detection employing a low-complexity digital signal processing.
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| 38. |
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| 39. |
- Villafranca, A., et al.
(författare)
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Linewidth Enhancement Factor of Semiconductor Lasers : Results from Round-Robin Measurements in COST 288
- 2007
-
Ingår i: 2007 CONFERENCE ON LASERS & ELECTRO-OPTICS/QUANTUM ELECTRONICS AND LASER SCIENCE CONFERENCE (CLEO/QELS 2007), VOLS 1-5.
-
Konferensbidrag (refereegranskat)abstract
- Round-robin measurements on the linewidth enhancement factor are carried out within several laboratories participating to EU COST 288 action. The alpha-factor is measured by applying up to 7 different techniques. The obtained results are compared.
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| 40. |
- Watts, Anna L., et al.
(författare)
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Dense matter with eXTP
- 2019
-
Ingår i: Science China Physics, Mechanics & Astronomy. - : Science Press. - 1674-7348 .- 1869-1927. ; 62:2
-
Forskningsöversikt (refereegranskat)abstract
- In this White Paper we present the potential of the Enhanced X-ray Timing and Polarimetry (eXTP) mission for determining the nature of dense matter; neutron star cores host an extreme density regime which cannot be replicated in a terrestrial laboratory. The tightest statistical constraints on the dense matter equation of state will come from pulse profile modelling of accretion-powered pulsars, burst oscillation sources, and rotation-powered pulsars. Additional constraints will derive from spin measurements, burst spectra, and properties of the accretion flows in the vicinity of the neutron star. Under development by an international Consortium led by the Institute of High Energy Physics of the Chinese Academy of Sciences, the eXTP mission is expected to be launched in the mid 2020s.
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| 41. |
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| 42. |
- Zhang, Lu, et al.
(författare)
-
Kernel Adaptive Filtering for Nonlinearity-Tolerant Optical Direct Detection Systems
- 2018
-
Ingår i: ). - : Institute of Electrical and Electronics Engineers Inc.. ; , s. 1-3
-
Konferensbidrag (refereegranskat)abstract
- Kernel adaptive filtering (KAF) is proposed for nonlinearity-tolerant optical direct detection. for 7×128 Gbit/s PAM4 transmission over 33.6km 7-core-fiber, KAF only needs 10 equalizer taps to reach KP4-FEC limit (BER@2.2e-4), whereas decision-feedback-equalizer needs 43 equalizer taps to reach HD-FEC limit (BER@3.8e-3).
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| 43. |
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