| 1. |
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| 2. |
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| 3. |
- Klionsky, Daniel J., et al.
(författare)
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Guidelines for the use and interpretation of assays for monitoring autophagy
- 2012
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Ingår i: Autophagy. - : Informa UK Limited. - 1554-8635 .- 1554-8627. ; 8:4, s. 445-544
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Forskningsöversikt (refereegranskat)abstract
- In 2008 we published the first set of guidelines for standardizing research in autophagy. Since then, research on this topic has continued to accelerate, and many new scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Accordingly, it is important to update these guidelines for monitoring autophagy in different organisms. Various reviews have described the range of assays that have been used for this purpose. Nevertheless, there continues to be confusion regarding acceptable methods to measure autophagy, especially in multicellular eukaryotes. A key point that needs to be emphasized is that there is a difference between measurements that monitor the numbers or volume of autophagic elements (e.g., autophagosomes or autolysosomes) at any stage of the autophagic process vs. those that measure flux through the autophagy pathway (i.e., the complete process); thus, a block in macroautophagy that results in autophagosome accumulation needs to be differentiated from stimuli that result in increased autophagic activity, defined as increased autophagy induction coupled with increased delivery to, and degradation within, lysosomes (in most higher eukaryotes and some protists such as Dictyostelium) or the vacuole (in plants and fungi). In other words, it is especially important that investigators new to the field understand that the appearance of more autophagosomes does not necessarily equate with more autophagy. In fact, in many cases, autophagosomes accumulate because of a block in trafficking to lysosomes without a concomitant change in autophagosome biogenesis, whereas an increase in autolysosomes may reflect a reduction in degradative activity. Here, we present a set of guidelines for the selection and interpretation of methods for use by investigators who aim to examine macroautophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes. These guidelines are not meant to be a formulaic set of rules, because the appropriate assays depend in part on the question being asked and the system being used. In addition, we emphasize that no individual assay is guaranteed to be the most appropriate one in every situation, and we strongly recommend the use of multiple assays to monitor autophagy. In these guidelines, we consider these various methods of assessing autophagy and what information can, or cannot, be obtained from them. Finally, by discussing the merits and limits of particular autophagy assays, we hope to encourage technical innovation in the field.
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| 4. |
- Fages, A., et al.
(författare)
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Tracking Five Millennia of Horse Management with Extensive Ancient Genome Time Series
- 2019
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Ingår i: Cell. - : Elsevier BV. - 0092-8674. ; 177:6
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Tidskriftsartikel (refereegranskat)abstract
- Horse domestication revolutionized warfare and accelerated travel, trade, and the geographic expansion of languages. Here, we present the largest DNA time series for a non-human organism to date, including genome-scale data from 149 ancient animals and 129 ancient genomes (>= 1-fold coverage), 87 of which are new. This extensive dataset allows us to assess the modem legacy of past equestrian civilisations. We find that two extinct horse lineages existed during early domestication, one at the far western (Iberia) and the other at the far eastern range (Siberia) of Eurasia. None of these contributed significantly to modern diversity. We show that the influence of Persian-related horse lineages increased following the Islamic conquests in Europe and Asia. Multiple alleles associated with elite-racing, including at the MSTN "speed gene," only rose in popularity within the last millennium. Finally, the development of modem breeding impacted genetic diversity more dramatically than the previous millennia of human management.
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| 5. |
- Clark, DW, et al.
(författare)
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Associations of autozygosity with a broad range of human phenotypes
- 2019
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4957-
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Tidskriftsartikel (refereegranskat)abstract
- In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44–66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.
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| 6. |
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| 7. |
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| 8. |
- Abdollahi, S., et al.
(författare)
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A gamma-ray determination of the Universe's star formation history
- 2018
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 362:6418, s. 1031-1034
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Tidskriftsartikel (refereegranskat)abstract
- The light emitted by all galaxies over the history of the Universe produces the extragalactic background light (EBL) at ultraviolet, optical, and infrared wavelengths. The EBL is a source of opacity for gamma rays via photon-photon interactions, leaving an imprint in the spectra of distant gamma-ray sources. We measured this attenuation using 739 active galaxies and one gamma-ray burst detected by the Fermi Large Area Telescope. This allowed us to reconstruct the evolution of the EBL and determine the star formation history of the Universe over 90% of cosmic time. Our star formation history is consistent with independent measurements from galaxy surveys, peaking at redshift z similar to 2. Upper limits of the EBL at the epoch of reionization suggest a turnover in the abundance of faint galaxies at z similar to 6.
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| 9. |
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| 10. |
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| 11. |
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| 12. |
- Oddsson, Asmundur, et al.
(författare)
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Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
- 2023
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Ingår i: Nature Communications. - : Springer Nature. - 2041-1723. ; 14:1
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Tidskriftsartikel (refereegranskat)abstract
- Genotypes causing pregnancy loss and perinatal mortality are depleted among living individuals and are therefore difficult to find. To explore genetic causes of recessive lethality, we searched for sequence variants with deficit of homozygosity among 1.52 million individuals from six European populations. In this study, we identified 25 genes harboring protein-altering sequence variants with a strong deficit of homozygosity (10% or less of predicted homozygotes). Sequence variants in 12 of the genes cause Mendelian disease under a recessive mode of inheritance, two under a dominant mode, but variants in the remaining 11 have not been reported to cause disease. Sequence variants with a strong deficit of homozygosity are over-represented among genes essential for growth of human cell lines and genes orthologous to mouse genes known to affect viability. The function of these genes gives insight into the genetics of intrauterine lethality. We also identified 1077 genes with homozygous predicted loss-of-function genotypes not previously described, bringing the total set of genes completely knocked out in humans to 4785.
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| 13. |
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| 14. |
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| 15. |
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| 16. |
- Johannesson, Magnus, et al.
(författare)
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Polygenic risk scores for schizophrenia and bipolar disorder predict creativity
- 2015
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Ingår i: Nature Neuroscience. - : Nature Publishing Group. - 1097-6256 .- 1546-1726. ; 18:7, s. 953-
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Tidskriftsartikel (refereegranskat)abstract
- We tested whether polygenic risk scores for schizophrenia and bipolar disorder would predict creativity. Higher scores were associated with artistic society membership or creative profession in both Icelandic (P = 5.2 x 10(-6) and 3.8 x 10(-6) for schizophrenia and bipolar disorder scores, respectively) and replication cohorts (P = 0.0021 and 0.00086). This could not be accounted for by increased relatedness between creative individuals and those with psychoses, indicating that creativity and psychosis share genetic roots.
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| 17. |
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| 18. |
- Thorleifsson, Gudmar, et al.
(författare)
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Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:10, s. 906-909
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Tidskriftsartikel (refereegranskat)abstract
- We conducted a genome-wide association study for primary open-angle glaucoma (POAG) in 1,263 affected individuals (cases) and 34,877 controls from Iceland. We identified a common sequence variant at 7q31 (rs4236601[ A], odds ratio (OR) = 1.36, P = 5.0 x 10(-10)). We then replicated the association in sample sets of 2,175 POAG cases and 2,064 controls from Sweden, the UK and Australia (combined OR = 1.18, P = 0.0015) and in 299 POAG cases and 580 unaffected controls from Hong Kong and Shantou, China (combined OR = 5.42, P = 0.0021). The risk variant identified here is located close to CAV1 and CAV2, both of which are expressed in the trabecular meshwork and retinal ganglion cells that are involved in the pathogenesis of POAG.
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| 19. |
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| 20. |
- Gisladottir, Rosa S, et al.
(författare)
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Sequence Variants in TAAR5 and Other Loci Affect Human Odor Perception and Naming.
- 2020
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Ingår i: Current biology : CB. - : Elsevier BV. - 1879-0445 .- 0960-9822. ; 30:23
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Tidskriftsartikel (refereegranskat)abstract
- Olfactory receptor (OR) genes in humans form a special class characterized by unusually high DNA sequence diversity, which should give rise to differences in perception and behavior. In the largest genome-wide association study to date based on olfactory testing, we investigated odor perception and naming with smell tasks performed by 9,122 Icelanders, with replication in a separate sample of 2,204 individuals. We discovered an association between a low-frequency missense variant in TAAR5 and reduced intensity rating of fish odor containing trimethylamine (p.Ser95Pro, pcombined= 5.6× 10-15). We demonstrate that TAAR5 genotype affects aversion to fish odor, reflected by linguistic descriptions of the odor and pleasantness ratings. We also discovered common sequence variants in two canonical olfactory receptor loci that associate with increased intensity and naming of licorice odor (trans-anethole: lead variant p.Lys233Asn in OR6C70, pcombined= 8.8× 10-16 and pcombined= 1.4× 10-9) and enhanced naming of cinnamon (trans-cinnamaldehyde; intergenic variant rs317787-T, pcombined= 5.0× 10-17). Together, our results show that TAAR5 genotype variation influences human odor responses and highlight that sequence diversity in canonical OR genes can lead to enhanced olfactory ability, in contrast to the view that greater tolerance for mutations in the human OR repertoire leads to diminished function.
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| 21. |
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| 22. |
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| 23. |
- Johannesdottir, Hera, et al.
(författare)
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Favourable long-term outcome after coronary artery bypass grafting in a nationwide cohort
- 2017
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Ingår i: Scandinavian Cardiovascular Journal. - : Informa UK Limited. - 1401-7431 .- 1651-2006. ; 51:6, s. 327-333
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Tidskriftsartikel (refereegranskat)abstract
- Objectives. In a nationwide cohort, we analyzed long-term outcome following coronary artery bypass grafting, using the combined strategy of left internal mammary artery to the left anterior descending artery and saphenous vein as secondary graft to other coronary targets. Methods. 1,507 consecutive patients that underwent myocardial revascularization during 2001-2012 in Iceland. Mean follow-up was 6.8 years. Major adverse cardiac and cerebrovascular events were depicted using the Kaplan-Meier method. Cox-regression was used to define risk factors. Relative survival was estimated by comparing overall survival to the survival of Icelanders of the same age and gender. Results. Mean age was 66 years, 83% were males, mean EuroSCOREst was 4.5, and 23% of the procedures were performed off-pump. At 5 years, 19.7% had suffered a major adverse cardiac or cerebrovascular event, 4.5% a stroke, 2.2% myocardial infarction, and 6.2% needed repeat revascularization. Overall 5-year survival was 89.9%, with a relative survival of 0.990. Independent predictors of major adverse cardiac and cerebrovascular events were left ventricular ejection fraction 30%, a previous history of percutaneous coronary intervention, chronic obstructive lung disease, chronic kidney disease, diabetes, and old age. The same variables and an earlier year of operation were predictors of long-term mortality. Conclusions. The long-term outcome following myocardial revascularization, using the left internal mammary artery and the great saphenous vein as conduits, is favourable and improving. This is reflected by the 5-year survival of 89.9%, deviating minimally from the survival rate of the general Icelandic population, together with a freedom from major adverse cardiac and cerebrovascular events of 80.3%.
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| 24. |
- Mavroidis, P., et al.
(författare)
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Dose-Response Relations for Anal Sphincter Regarding Fecal Leakage and Blood or Phlegm in Stools after Radiotherapy for Prostate Cancer Radiobiological Study of 65 Consecutive Patients
- 2005
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Ingår i: Strahlenther Onkol. - 0179-7158. ; 181:5, s. 293-306
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: : The estimation of the parameters that describe the dose-response relations of anal sphincter regarding the clinical endpoints of fecal leakage and blood or phlegm in stools is important in the optimization of prostate cancer radiotherapy. Also, the validity of the relative seriality model for this clinical case needs to be examined by associating the clinical follow-up results with the predicted complication rates. PATIENTS AND METHODS: : In this study, 65 patients who received radiation therapy for clinically localized prostate adenocarcinoma are analyzed. The clinical treatment outcome and the three-dimensional dose distribution delivered to anal sphincter were available for each patient. A questionnaire was used for assessing the clinical bowel and urinary symptoms. A maximum likelihood fitting was performed to calculate the best estimates of the parameters used by the relative seriality model. The clinical utilization of the calculated parameters in predicting anal sphincter complication probabilities was illustrated by applying the best estimate of the parameters to a subset of the patient population. RESULTS: : The estimated values of the parameters for the two clinical endpoints are D (50) = 70.2 Gy, gamma = 1.22, s = 0.35 for fecal leakage and D (50) = 74.0 Gy, gamma = 0.75, s approximately 0 for blood or phlegm in stools. The standard deviations of the parameters were also calculated together with the confidence intervals of the dose-response curves. The analysis proved that the treatment outcome pattern of the patient material can suitably be reproduced by the relative seriality model (probability of finding a worse fit = 60.2%, the area under the receiver operating characteristic curve = 0.72 and 0.69 and chi(2)-test = 0.97 and 0.86, respectively). CONCLUSION: : Fecal leakage is characterized by a medium relative seriality whereas blood or phlegm in stools was found to have strong volume dependence (low relative seriality). Diminishing the biologically effective uniform dose to anal sphincter < 40-45 Gy may significantly reduce the risk of fecal leakage or blood or phlegm in stools for patients irradiated for prostate cancer.
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| 25. |
- Stacey, Simon N, et al.
(författare)
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Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus.
- 2010
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Ingår i: PLoS genetics. - : Public Library of Science. - 1553-7404. ; 6:7, s. e1001029-
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Tidskriftsartikel (refereegranskat)abstract
- We used an approach that we term ancestry-shift refinement mapping to investigate an association, originally discovered in a GWAS of a Chinese population, between rs2046210[T] and breast cancer susceptibility. The locus is on 6q25.1 in proximity to the C6orf97 and estrogen receptor alpha (ESR1) genes. We identified a panel of SNPs that are correlated with rs2046210 in Chinese, but not necessarily so in other ancestral populations, and genotyped them in breast cancer case:control samples of Asian, European, and African origin, a total of 10,176 cases and 13,286 controls. We found that rs2046210[T] does not confer substantial risk of breast cancer in Europeans and Africans (OR = 1.04, P = 0.099, and OR = 0.98, P = 0.77, respectively). Rather, in those ancestries, an association signal arises from a group of less common SNPs typified by rs9397435. The rs9397435[G] allele was found to confer risk of breast cancer in European (OR = 1.15, P = 1.2 x 10(-3)), African (OR = 1.35, P = 0.014), and Asian (OR = 1.23, P = 2.9 x 10(-4)) population samples. Combined over all ancestries, the OR was 1.19 (P = 3.9 x 10(-7)), was without significant heterogeneity between ancestries (P(het) = 0.36) and the SNP fully accounted for the association signal in each ancestry. Haplotypes bearing rs9397435[G] are well tagged by rs2046210[T] only in Asians. The rs9397435[G] allele showed associations with both estrogen receptor positive and estrogen receptor negative breast cancer. Using early-draft data from the 1,000 Genomes project, we found that the risk allele of a novel SNP (rs77275268), which is closely correlated with rs9397435, disrupts a partially methylated CpG sequence within a known CTCF binding site. These studies demonstrate that shifting the analysis among ancestral populations can provide valuable resolution in association mapping.
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| 26. |
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| 27. |
- Styrkarsdottir, Unnur, et al.
(författare)
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Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis
- 2017
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 49:5, s. 801-805
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Tidskriftsartikel (refereegranskat)abstract
- We performed a genome-wide association study of total hip replacements, based on variants identified through whole-genome sequencing, which included 4,657 Icelandic patients and 207,514 population controls. We discovered two rare signals that strongly associate with osteoarthritis total hip replacement: a missense variant, c.1141G>C (p.Asp369His), in the COMP gene (allelic frequency = 0.026%, P = 4.0 × 10-12, odds ratio (OR) = 16.7) and a frameshift mutation, rs532464664 (p.Val330Glyfs∗106), in the CHADL gene that associates through a recessive mode of inheritance (homozygote frequency = 0.15%, P = 4.5 × 10-18, OR = 7.71). On average, c.1141G>C heterozygotes and individuals homozygous for rs532464664 had their hip replacement operation 13.5 years and 4.9 years earlier than others (P = 0.0020 and P = 0.0026), respectively. We show that the full-length CHADL transcript is expressed in cartilage. Furthermore, the premature stop codon introduced by the CHADL frameshift mutation results in nonsense-mediated decay of the mutant transcripts.
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| 28. |
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| 29. |
- Al-Abany, M., et al.
(författare)
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Toward a definition of a threshold for harmless doses to the anal-sphincter region and the rectum
- 2005
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Ingår i: Int J Radiat Oncol Biol Phys. - 0360-3016. ; 61:4, s. 1035-44
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: To investigate dysfunction caused by unwanted radiation to the anal-sphincter region and the rectum. METHODS AND MATERIALS: A questionnaire assessing bowel symptoms, sexual function, and urinary symptoms was sent to 72 patients with clinically localized prostatic adenocarcinoma treated by external beam radiation therapy at the Radiumhemmet, Karolinska Hospital, in Stockholm, Sweden, 2-4 years after treatment. The mean percentage dose-volume histograms for patients with and without the specific symptom were calculated. RESULTS: Of the 65 patients providing information, 9 reported fecal leakage, 10 blood and mucus in stools, 10 defecation urgency, and 7 diarrhea or loose stools. None of the 19 and 13 patients who received, respectively, a dose of > or =35 Gy to < or =60% or > or =40 Gy to < or =40% of the anal-sphincter region volume reported fecal leakage (p < 0.05). In dose-volume histograms, a statistically significant correlation was found between radiation to the anal-sphincter region and the risk of fecal leakage in the interval 45-55 Gy. There was also a statistically significant correlation between radiation to the rectum and the risk of defecation urgency and diarrhea or loose stools in the interval 25-42 Gy. No relationship was found between anatomic rectal wall volume and the investigated late effects. CONCLUSIONS: Although the limited data in this study prevent the definition of a conclusive threshold regarding volume and dose to the anal-sphincter region and untoward morbidity, it seems that careful monitoring of unnecessary irradiation to this area should be done because it can potentially help reduce the risk of adverse effects, such as fecal leakage. Future studies should pay more attention to the anal-sphincter region and help to more rigorously define its radiotherapeutic tolerance.
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| 30. |
- Amundadottir, Laufey T., et al.
(författare)
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A common variant associated with prostate cancer in European and African populations
- 2006
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Ingår i: Nature Genetics. - DeCODE Genet, IS-101 Reykjavik, Iceland. Univ Iceland, Landspitali Hosp, Dept Pathol, IS-101 Reykjavik, Iceland. Univ Iceland, Landspitali Hosp, Dept Urol, IS-101 Reykjavik, Iceland. Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA. Orebro Univ Hosp, Dept Urol & Clin Med, Orebro, Sweden. Karolinska Inst, Dept Med Epidemiol & Biostat, SE-17177 Stockholm, Sweden. Univ Michigan, Dept Urol, Ann Arbor, MI 48109 USA. Northwestern Univ, Feinberg Sch Med, Dept Urol, Chicago, IL 60611 USA. Washington Univ, Sch Med, Dept Psychiat, St Louis, MO 63110 USA. Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA. Univ Michigan, Dept Internal Med, Ann Arbor, MI 48109 USA. : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 38:6, s. 652-658
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Tidskriftsartikel (refereegranskat)abstract
- With the increasing incidence of prostate cancer, identifying common genetic variants that confer risk of the disease is important. Here we report such a variant on chromosome 8q24, a region initially identified through a study of Icelandic families. Allele -8 of the microsatellite DG8S737 was associated with prostate cancer in three case-control series of European ancestry from Iceland, Sweden and the US. The estimated odds ratio (OR) of the allele is 1.62 (P = 2.7 x 10(-11)). About 19% of affected men and 13% of the general population carry at least one copy, yielding a population attributable risk (PAR) of approximately 8%. The association was also replicated in an African American case-control group with a similar OR, in which 41% of affected individuals and 30% of the population are carriers. This leads to a greater estimated PAR (16%) that may contribute to higher incidence of prostate cancer in African American men than in men of European ancestry.
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| 31. |
- Desai, A., et al.
(författare)
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Probing the EBL Evolution at High Redshift Using GRBs Detected with the Fermi-LAT
- 2017
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Ingår i: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 850:1
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Tidskriftsartikel (refereegranskat)abstract
- The extragalactic background light (EBL), from ultraviolet to infrared wavelengths, is predominantly due to emission from stars, accreting black holes and reprocessed light due to Galactic dust. The EBL can be studied through the imprint it leaves, via gamma-gamma absorption of high-energy photons, in the spectra of distant.-ray sources. The EBL has been probed through the search for the attenuation it produces in the spectra of BL Lacertae (BL Lac) objects and individual.-ray bursts (GRBs). GRBs have significant advantages over blazars for the study of the EBL especially at high redshifts. Here we analyze a combined sample of 22 GRBs, detected by the Fermi Large Area Telescope between 65 MeV and 500 GeV. We report a marginal detection (at the similar to 2.8 sigma level) of the EBL attenuation in the stacked spectra of the source sample. This measurement represents a first constraint of the EBL at an effective redshift of similar to 1.8. We combine our results with prior EBL constraints and conclude that Fermi-LAT is instrumental to constrain the UV component of the EBL. We discuss the implications on existing empirical models of EBL evolution.
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| 32. |
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| 33. |
- Jorgensen, A. A., et al.
(författare)
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Petabit-per-second data transmission using a chip-scale microcomb ring resonator source
- 2022
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Ingår i: Nature Photonics. - : Springer Science and Business Media LLC. - 1749-4885 .- 1749-4893. ; 16:11, s. 798-802
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Tidskriftsartikel (refereegranskat)abstract
- Optical fibre communication is the backbone of the internet. As essential core technologies are approaching their limits of size, speed and energy-efficiency, there is a need for new technologies that offer further scaling of data transmission capacity. Here we show that a single optical frequency-comb source based on a silicon nitride ring resonator supports data capacities in the petabit-per-second regime. We experimentally demonstrate transmission of 1.84 Pbit s–1 over a 37-core, 7.9-km-long fibre using 223 wavelength channels derived from a single microcomb ring resonator producing a stabilized dark-pulse Kerr frequency comb. We also present a theoretical analysis that indicates that a single, chip-scale light source should be able to support 100 Pbit s–1 in massively parallel space-and-wavelength multiplexed data transmission systems. Our findings could mark a shift in the design of future communication systems, targeting device-efficient transmitters and receivers.
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| 34. |
- Kong, D., et al.
(författare)
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Single Dark-Pulse Kerr Comb Supporting 1.84 Pbit/s Transmission over 37-Core Fiber
- 2020
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Ingår i: Conference Proceedings - Lasers and Electro-Optics Society Annual Meeting-LEOS. - 1092-8081. ; 2020-May
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Konferensbidrag (refereegranskat)abstract
- We show that a single dark-pulse Kerr comb can generate high enough OSNR to carry 1.84 Pbit/s data, achieved by 223 WDM spectral lines modulated with 32-Gbaud, SNR-adapted probabilistically shaped DP-QAM, over a 37-core fiber.
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| 35. |
- Rasmussen, Mette, et al.
(författare)
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Effectiveness of tobacco cessation interventions for different groups of tobacco users in Sweden: a study protocol for a national prospective cohort study
- 2022
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Ingår i: Bmj Open. - : BMJ. - 2044-6055. ; 12:1
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Tidskriftsartikel (refereegranskat)abstract
- INTRODUCTION: Tobacco is still one of the single most important risk factors among the lifestyle habits that cause morbidity and mortality in humans. Furthermore, tobacco has a heavy social gradient, as the consequences are even worse among disadvantaged and vulnerable groups. To reduce tobacco-related inequity in health, those most in need should be offered the most effective tobacco cessation intervention. The aim of this study is to facilitate and improve the evaluation of already implemented national tobacco cessation efforts, focusing on 10 disadvantaged and vulnerable groups of tobacco users. METHODS AND ANALYSIS: This is a prospective cohort study. Data will be collected by established tobacco cessation counsellors in Sweden. The study includes adult tobacco or e-cigarette users, including disadvantaged and vulnerable patients, receiving in-person interventions for tobacco or e-cigarette cessation (smoking, snus and/or e-cigarettes). Patient inclusion was initiated in April 2020. For data analyses patients will be sorted into vulnerable groups based on risk factors and compared with tobacco users without the risk factor in question.The primary outcome is continuous successful quitting after 6 months, measured by self-reporting. Secondary outcomes include abstinence at the end of the treatment programme, which could be from minutes over days to weeks, 14-day point prevalence after 6 months, and patient satisfaction with the intervention. Effectiveness of successful quitting will be examined by comparing vulnerable with non-vulnerable patients using a mixed-effect logistic regression model adjusting for potential prognostic factors and known confounders. ETHICS AND DISSEMINATION: The project will follow the guidelines from the Swedish Data Protection Authority and have been approved by the Swedish Ethical Review Authority before patient inclusion (Dnr: 2019-02221). Only patients providing written informed consent will be included. Both positive and negative results will be published in scientific peer-reviewed journals and presented at national and international conferences. Information will be provided through media available to the public, politicians, healthcare providers and planners as these are all important stakeholders. TRIAL REGISTRATION NUMBER: NCT04819152. © Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.
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| 36. |
- Sandoval-Velasco, Marcela, et al.
(författare)
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The ancestry and geographical origins of St Helena's liberated Africans
- 2023
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Ingår i: American Journal of Human Genetics. - : Cell Press. - 0002-9297 .- 1537-6605. ; 110:9, s. 1590-1599
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Tidskriftsartikel (refereegranskat)abstract
- The island of St Helena played a crucial role in the suppression of the transatlantic slave trade. Strategically located in the middle of the South Atlantic, it served as a staging post for the Royal Navy and reception point for enslaved Africans who had been "liberated"from slave ships intercepted by the British. In total, St Helena received approximately 27,000 liberated Africans between 1840 and 1867. Written sources suggest that the majority of these individuals came from West Central Africa, but their precise origins are unknown. Here, we report the results of ancient DNA analyses that we conducted as part of a wider effort to commemorate St Helena's liberated Africans and to restore knowledge of their lives and experiences. We generated partial genomes (0.1-0.53) for 20 individuals whose remains had been recovered during archaeological excavations on the island. We compared their genomes with genotype data for over 3,000 present-day individuals from 90 populations across sub-Saharan Africa and conclude that the individuals most likely originated from different source populations within the general area between northern Angola and Gabon. We also find that the majority (17/20) of the individuals were male, supporting a well-documented sex bias in the latter phase of the transatlantic slave trade. The study expands our understanding of St Helena's liberated African community and illustrates how ancient DNA analyses can be used to investigate the origins and identities of individuals whose lives were bound up in the story of slavery and its abolition.
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| 37. |
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| 38. |
- Al-Abany, M., et al.
(författare)
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Reliability of assessment of urgency and other symptoms indicating anal sphincter, large bowel or urinary dysfunction
- 2006
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Ingår i: Scand J Urol Nephrol. - 0036-5599. ; 40:5, s. 397-408
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: The Radiumhemmets Scale of Disease-Specific Symptom Assessment-Prostate Cancer has been used in several studies. However, no test-retest reliability study of it has been conducted concerning the assessment of urinary, anal sphincter or large bowel function. The aim of this study was to evaluate the reliability of items assessing these functions. MATERIAL AND METHODS: We investigated 89 prostate cancer patients randomly selected from a group of patients diagnosed in Stockholm. The patients answered 24 questions assessing anal sphincter, large bowel and urinary function twice, with a 3-week interval in-between, to assess reliability. RESULTS: Most of the questions assessing bowel and urinary symptoms showed substantial or near-perfect agreement. The kappa value for bowel symptom items was > or = 0.60 for all items, except for defecation urgency (0.40-0.55). The kappa value for urinary symptom items varied between 0.43 and 1.0, except for urinary urgency (0.30-0.39). CONCLUSIONS: When comparing the impact of different symptoms of anal sphincter, large bowel or urinary tract dysfunction, it may be important to consider that defecation urgency and urinary urgency have the highest measuring error (low reliability). This error dilutes assessed associations with, for example, decreased quality of life. Nevertheless, the test-retest reliability for anal sphincter, large bowel and urinary symptoms indicates that surveys yield meaningful information.
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- Bahaloo, Hassan, 1983-, et al.
(författare)
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On the failure initiation in the proximal human femur under simulated sideways fall
- 2018
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Ingår i: Annals of Biomedical Engineering. - : Springer. - 0090-6964 .- 1573-9686. ; 46, s. 270-283
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Tidskriftsartikel (refereegranskat)abstract
- The limitations of areal bone mineral density measurements for identifying at-risk individuals have led to the development of alternative screening methods for hip fracture risk including the use of geometrical measurements from the proximal femur and subject specific finite element analysis (FEA) for predicting femoral strength, based on quantitative CT data (qCT). However, these methods need more development to gain widespread clinical applications. This study had three aims: To investigate whether proximal femur geometrical parameters correlate with obtained femur peak force during the impact testing; to examine whether or not failure of the proximal femur initiates in the cancellous (trabecular) bone; and finally, to examine whether or not surface fracture initiates in the places where holes perforate the cortex of the proximal femur. We found that cortical thickness around the trochanteric-fossa is significantly correlated to the peak force obtained from simulated sideways falling (R 2 = 0.69) more so than femoral neck cortical thickness (R 2 = 0.15). Dynamic macro level FE simulations predicted that fracture generally initiates in the cancellous bone compartments. Moreover, our micro level FEA results indicated that surface holes may be involved in primary failure events.
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- Helgason, Ólafur, et al.
(författare)
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A Middleware for Opportunistic Content Distribution
- 2016
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Ingår i: Computer Networks. - : Elsevier. - 1389-1286 .- 1872-7069. ; 107, s. 178-193
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Tidskriftsartikel (refereegranskat)abstract
- In this work we present a middleware architecture for a mobile peer-to-peer content distribution system. Our architecture allows wireless content dissemination between mobile nodes without relying on infrastructure support. In addition, it supports the dissemination of contents between the wireless ad-hoc domain and the wired Internet. In the ad-hoc domain, contents are exchanged opportunistically when nodes are within communication range. Applications access the service of our platform through a publish/subscribe interface and therefore do not have to deal with low-level opportunistic networking issues or matching and soliciting of contents. Our middleware consists of three key components. A content structure that facilitates dividing contents into logical topics and allows efficient matching of content lookups and downloading under sporadic node connectivity. A solicitation protocol that allows nodes to solicit content meta-information in order to discover contents available at a neighboring node and to download content entries disjointedly from different nodes. An API that allows applications to access the system services through a publish/subscribe interface. In this work we present the design and implementation of our middleware and describe a set of applications that use the services provided by our middleware. We also assess the performance of the system using our Android implementation as well as a simulation implementation for large-scale evaluation.
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| 49. |
- Helgason, Ólafur, et al.
(författare)
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A mobile peer-to-peer system for opportunistic content-centric networking
- 2010
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Ingår i: Proceedings of the 2nd ACM SIGCOMM Workshop on Networking, Systems, and Applications on Mobile Handhelds, MobiHeld '10, Co-located with SIGCOMM 2010. - New York, NY, USA : ACM. - 9781450301978 ; , s. 21-26
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Konferensbidrag (refereegranskat)abstract
- In this work we present a middleware architecture for a mobile peer-to-peer content distribution system. Our architecture allows wireless content dissemination between mobile nodes without relying on infrastructure support. Contents are exchanged opportunistically when nodes are within communication range. Applications access the service of our platform through a publish/subscribe interface and therefore do not have to deal with low-level opportunistic networking issues or matching and soliciting of contents. Our architecture consists of three key components. A content structure that facilitates dividing contents into logical topics and allows for efficient matching of content lookups and downloading under sporadic node connectivity. A solicitation protocol that allows nodes to solicit content meta-information in order to discover contents available at a neighboring node and to download content entries disjointedly from different nodes. An API that allows applications to access the system services through a publish/subscribe interface. In this work we describe the design and implementation of our architecture. We also discuss potential applications and present evaluation results from profiling of our system.
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| 50. |
- Hibbett, David, et al.
(författare)
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Sequence-based classification and identification of Fungi
- 2016
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Ingår i: Mycologia. - 0027-5514. ; 108:6, s. 1049-1068
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Forskningsöversikt (refereegranskat)abstract
- Fungal taxonomy and ecology have been revolutionized by the application of molecular methods and both have increasing connections to genomics and functional biology. However, data streams from traditional specimen- and culture-based systematics are not yet fully integrated with those from metagenomic and metatranscriptomic studies, which limits understanding of the taxonomic diversity and metabolic properties of fungal communities. This article reviews current resources, needs, and opportunities for sequence-based classification and identification (SBCI) in fungi as well as related efforts in prokaryotes. To realize the full potential of fungal SBCI it will be necessary to make advances in multiple areas. Improvements in sequencing methods, including long-read and single-cell technologies, will empower fungal molecular ecologists to look beyond ITS and current shotgun metagenomics approaches. Data quality and accessibility will be enhanced by attention to data and metadata standards and rigorous enforcement of policies for deposition of data and workflows. Taxonomic communities will need to develop best practices for molecular characterization in their focal clades, while also contributing to globally useful datasets including ITS. Changes to nomenclatural rules are needed to enable valid publication of sequence-based taxon descriptions. Finally, cultural shifts are necessary to promote adoption of SBCI and to accord professional credit to individuals who contribute to community resources.
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