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- Fabian, ID, et al.
(författare)
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Travel burden and clinical presentation of retinoblastoma: analysis of 1024 patients from 43 African countries and 518 patients from 40 European countries
- 2021
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Ingår i: The British journal of ophthalmology. - : BMJ. - 1468-2079 .- 0007-1161. ; 105:10, s. 1435-1443
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Tidskriftsartikel (refereegranskat)abstract
- The travel distance from home to a treatment centre, which may impact the stage at diagnosis, has not been investigated for retinoblastoma, the most common childhood eye cancer. We aimed to investigate the travel burden and its impact on clinical presentation in a large sample of patients with retinoblastoma from Africa and Europe.MethodsA cross-sectional analysis including 518 treatment-naïve patients with retinoblastoma residing in 40 European countries and 1024 treatment-naïve patients with retinoblastoma residing in 43 African countries.ResultsCapture rate was 42.2% of expected patients from Africa and 108.8% from Europe. African patients were older (95% CI −12.4 to −5.4, p<0.001), had fewer cases of familial retinoblastoma (95% CI 2.0 to 5.3, p<0.001) and presented with more advanced disease (95% CI 6.0 to 9.8, p<0.001); 43.4% and 15.4% of Africans had extraocular retinoblastoma and distant metastasis at the time of diagnosis, respectively, compared to 2.9% and 1.0% of the Europeans. To reach a retinoblastoma centre, European patients travelled 421.8 km compared to Africans who travelled 185.7 km (p<0.001). On regression analysis, lower-national income level, African residence and older age (p<0.001), but not travel distance (p=0.19), were risk factors for advanced disease.ConclusionsFewer than half the expected number of patients with retinoblastoma presented to African referral centres in 2017, suggesting poor awareness or other barriers to access. Despite the relatively shorter distance travelled by African patients, they presented with later-stage disease. Health education about retinoblastoma is needed for carers and health workers in Africa in order to increase capture rate and promote early referral.
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- Ballantyne, Kaye N., et al.
(författare)
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Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats
- 2014
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Ingår i: Human Mutation. - : John Wiley & Sons. - 1059-7794 .- 1098-1004. ; 35:8, s. 1021-1032
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Tidskriftsartikel (refereegranskat)abstract
- Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, greater than99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836-0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysis of molecular variance revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 father-son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RMY-STRs in identifying and separating unrelated and related males and provides a reference database.
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| 4. |
- Davy, P., et al.
(författare)
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DFN, why, how and what for, concepts, theories and issues
- 2018
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Ingår i: 2nd International Discrete Fracture Network Engineering Conference, DFNE 2018. - : American Rock Mechanics Association (ARMA).
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Konferensbidrag (refereegranskat)abstract
- DFN – Discrete Fracture Network – is primarily a modeling framework for fractured geological systems that aims to integrate field data into simulations of flow and/or deformation. It is complementary to, or competing with, continuum methods with both advantages of easily integrating the statistical properties of fracture networks, and of not assuming any homogenization scale. The core element is the DFN conceptual model, which makes a functional link between data from different sources, prior knowledge and medium models. We discuss some fundamental issues about this conceptual model, namely (i) the upscaling of small-scale measurements to site-scale relationships, (ii) intrinsic variability versus geological determinism, (iii) the way to incorporate a priori knowledge, (iv) the transformation of a statistical description into a medium model, (v) the critical characteristics (length scales, scaling laws or physical properties) of fractures for a given DFN application. The main product of the DFN conceptual model is medium models, whose role is to extrapolate/interpolate data with a faithful representation of the geological system. The way in which fracture correlations are taken into account, or not, in the generation process plays an important control on the connectivity and flow properties of medium models.
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| 5. |
- Kohl, S, et al.
(författare)
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CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
- 2005
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Ingår i: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1476-5438 .- 1018-4813. ; 13:3, s. 302-308
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Tidskriftsartikel (refereegranskat)abstract
- Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder. Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341 independent patients with achromatopsia. In 163 patients, CNGB3 mutations could be identified. A total of 105 achromats carried apparent homozygous mutations, 44 were compound (double) heterozygotes, and 14 patients had only a single mutant allele. The derived CNGB3 mutation spectrum comprises 28 different mutations including 12 nonsense mutations, eight insertions and/or deletions, five putative splice site mutations, and three missense mutations. Thus, the majority of mutations in the CNGB3 gene result in significantly altered and/or truncated polypeptides. Several mutations were found recurrently, in particular a 1 bp deletion, c.1148delC, which accounts for over 70% of all CNGB3 mutant alleles. In conclusion, mutations in the CNGB3 gene are responsible for approximately 50% of all patients with achromatopsia. This indicates that the CNGB3/ACHM3 locus on chromosome 8q21 is the major locus for achromatopsia in patients of European origin or descent.
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| 8. |
- Libby, S., et al.
(författare)
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Dynamic fracture network generation : A new method for growing fractures according to their deformation history
- 2019
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Ingår i: 53rd U.S. Rock Mechanics/Geomechanics Symposium. - : American Rock Mechanics Association (ARMA).
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Konferensbidrag (refereegranskat)abstract
- This paper presents a new method for generation of simulated fractures where fractures ‘grow’ dynamically, permitting interaction during formation. These interactions mimic the natural processes of stress shadowing, termination of fractures on other fractures, linking of fractures, and the varied growth on a single fracture due to contrasting rock properties. By simulating these interactions and providing the user with fine control over them, the new fracture generation method can create simulated fracture networks that match natural fracture networks more closely than other established methods. These behaviours are implemented mechanistically, allowing fracture generation to be achieved without the significant additional computational cost required to explicitly model the stresses in a fracturing rock volume. A suite of test cases is demonstrated, illustrating how different configurations of the dynamic fracture model allows different connectivity characteristics to be modelled.
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| 9. |
- Moon, S., et al.
(författare)
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Present-Day Stress Field Influences Bedrock Fracture Openness Deep Into the Subsurface
- 2020
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Ingår i: Geophysical Research Letters. - : American Geophysical Union (AGU). - 0094-8276 .- 1944-8007. ; 47:23
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Tidskriftsartikel (refereegranskat)abstract
- Fracturing of bedrock promotes water-rock interactions and influences the formation of the life-sustaining layer of soil at Earth's surface. Models predict that present-day stress fields should influence bedrock fracture openness, but testing this prediction has proven difficult because comprehensive fracture data sets are rarely available. We model the three-dimensional present-day stress field beneath the deglaciated, low-relief landscape of Forsmark, Sweden. We account for ambient regional stresses, pore pressure, topography, sediment weight, and seawater loading. We then compare the modeled stresses to a data set of similar to 50,000 fractures reaching depths of 600 m at Forsmark. We show that modeled failure proxies correlate strongly with the fraction of observed open fractures to depths of similar to 500 m. This result implies that the present-day regional stress field, affected by surface conditions and pore pressure, influences fracture openness in bedrock hundreds of meters beneath the surface, thereby preparing the rock for further weathering. Plain Language Summary The "critical zone"-the life-sustaining part of the Earth that extends from the top of the tree canopy to the bottom of permeable bedrock-is essential for ecosystems and agriculture. The opening of bedrock fractures and onset of water-rock interaction are crucial to the formation of the critical zone. Within the bedrock, the intensities of horizontal regional forces and vertical gravitational forces typically increase with depth. These force intensities, or stresses, are modified by surface effects associated with topography, the weight of overlying seawater and sediment, and by groundwater pressure. However, the influence of these surface effects on fractures has been difficult to observe because comprehensive fracture data sets are rare. In this study, we examine whether, and to what depths, bedrock may fracture under the influence of stress associated with surficial conditions. We compare bedrock stress calculations with similar to 50,000 fractures from 18 cores reaching depths of 600 m at Forsmark, Sweden. We find that the present-day stress field influences the opening of fractures to depths of 500 m, contributing to the formation of the critical zone and the preparation of rock for weathering hundreds of meters beneath the surface, much deeper than previously thought.
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