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| 4. |
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- 2017
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In: Physical Review D. - 2470-0010 .- 2470-0029. ; 96:2
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Journal article (peer-reviewed)
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| 5. |
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| 7. |
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- 2019
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Journal article (peer-reviewed)
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| 8. |
- Fresard, Laure, et al.
(author)
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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
- 2019
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In: Nature Medicine. - : NATURE PUBLISHING GROUP. - 1078-8956 .- 1546-170X. ; 25:6, s. 911-919
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Journal article (peer-reviewed)abstract
- It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene(1). The current molecular diagnostic rate is estimated at 50%, with whole-exome sequencing (WES) among the most successful approaches(2-5). For patients in whom WES is uninformative, RNA sequencing (RNA-seq) has shown diagnostic utility in specific tissues and diseases(6-8). This includes muscle biopsies from patients with undiagnosed rare muscle disorders(6,9), and cultured fibroblasts from patients with mitochondrial disorders(7). However, for many individuals, biopsies are not performed for clinical care, and tissues are difficult to access. We sought to assess the utility of RNA-seq from blood as a diagnostic tool for rare diseases of different pathophysiologies. We generated whole-blood RNA-seq from 94 individuals with undiagnosed rare diseases spanning 16 diverse disease categories. We developed a robust approach to compare data from these individuals with large sets of RNA-seq data for controls (n = 1,594 unrelated controls and n = 49 family members) and demonstrated the impacts of expression, splicing, gene and variant filtering strategies on disease gene identification. Across our cohort, we observed that RNA-seq yields a 7.5% diagnostic rate, and an additional 16.7% with improved candidate gene resolution.
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| 9. |
- Bendtsen, Preben, et al.
(author)
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Professional's Attitudes Do Not Influence Screening and Brief Interventions Rates for Hazardous and Harmful Drinkers: Results from ODHIN Study
- 2015
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In: Alcohol and Alcoholism. - : Oxford University Press (OUP). - 0735-0414 .- 1464-3502. ; 50:4, s. 430-437
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Journal article (peer-reviewed)abstract
- To determine the relation between existing levels of alcohol screening and brief intervention rates in five European jurisdictions and role security and therapeutic commitment by the participating primary healthcare professionals. Health care professionals consisting of, 409 GPs, 282 nurses and 55 other staff including psychologists, social workers and nurse aids from 120 primary health care centres participated in a cross-sectional 4-week survey. The participants registered all screening and brief intervention activities as part of their normal routine. The participants also completed the Shortened Alcohol and Alcohol Problems Perception Questionnaire (SAAPPQ), which measure role security and therapeutic commitment. The only significant but small relationship was found between role security and screening rate in a multilevel logistic regression analysis adjusted for occupation of the provider, number of eligible patients and the random effects of jurisdictions and primary health care units (PHCU). No significant relationship was found between role security and brief intervention rate nor between therapeutic commitment and screening rate/brief intervention rate. The proportion of patients screened varied across jurisdictions between 2 and 10%. The findings show that the studied factors (role security and therapeutic commitment) are not of great importance for alcohol screening and BI rates. Given the fact that screening and brief intervention implementation rate has not changed much in the last decade in spite of increased policy emphasis, training initiatives and more research being published, this raises a question about what else is needed to enhance implementation.
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| 10. |
- Keurhorst, M., et al.
(author)
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Impact of primary healthcare providers' initial role security and therapeutic commitment on implementing brief interventions in managing risky alcohol consumption: a cluster randomised factorial trial
- 2016
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In: Implementation Science. - : Springer Science and Business Media LLC. - 1748-5908. ; 11
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Journal article (peer-reviewed)abstract
- Background: Brief interventions in primary healthcare are cost-effective in reducing drinking problems but poorly implemented in routine practice. Although evidence about implementing brief interventions is growing, knowledge is limited with regard to impact of initial role security and therapeutic commitment on brief intervention implementation. Methods: In a cluster randomised factorial trial, 120 primary healthcare units (PHCUs) were randomised to eight groups: care as usual, training and support, financial reimbursement, and the opportunity to refer patients to an internet-based brief intervention (e-BI); paired combinations of these three strategies, and all three strategies combined. To explore the impact of initial role security and therapeutic commitment on implementing brief interventions, we performed multilevel linear regression analyses adapted to the factorial design. Results: Data from 746 providers from 120 PHCUs were included in the analyses. Baseline role security and therapeutic commitment were found not to influence implementation of brief interventions. Furthermore, there were no significant interactions between these characteristics and allocated implementation groups. Conclusions: The extent to which providers changed their brief intervention delivery following experience of different implementation strategies was not determined by their initial attitudes towards alcohol problems. In future research, more attention is needed to unravel the causal relation between practitioners' attitudes, their actual behaviour and care improvement strategies to enhance implementation science.
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| 11. |
- Natali, S. M., et al.
(author)
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Large loss of CO2 in winter observed across the northern permafrost region
- 2019
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In: Nature Climate Change. - : Springer Science and Business Media LLC. - 1758-678X .- 1758-6798. ; 9:11, s. 852-857
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Journal article (peer-reviewed)abstract
- Recent warming in the Arctic, which has been amplified during the winter(1-3), greatly enhances microbial decomposition of soil organic matter and subsequent release of carbon dioxide (CO2)(4). However, the amount of CO2 released in winter is not known and has not been well represented by ecosystem models or empirically based estimates(5,6). Here we synthesize regional in situ observations of CO2 flux from Arctic and boreal soils to assess current and future winter carbon losses from the northern permafrost domain. We estimate a contemporary loss of 1,662 TgC per year from the permafrost region during the winter season (October-April). This loss is greater than the average growing season carbon uptake for this region estimated from process models (-1,032 TgC per year). Extending model predictions to warmer conditions up to 2100 indicates that winter CO2 emissions will increase 17% under a moderate mitigation scenario-Representative Concentration Pathway 4.5-and 41% under business-as-usual emissions scenario-Representative Concentration Pathway 8.5. Our results provide a baseline for winter CO2 emissions from northern terrestrial regions and indicate that enhanced soil CO2 loss due to winter warming may offset growing season carbon uptake under future climatic conditions.
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| 12. |
- Anderson, P., et al.
(author)
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Improving the delivery of brief interventions for heavy drinking in primary health care: outcome results of the Optimizing Delivery of Health Care Intervention (ODHIN) five-country cluster randomized factorial trial
- 2016
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In: Addiction. - : Wiley. - 1360-0443 .- 0965-2140. ; 111:11, s. 1935-1945
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Journal article (peer-reviewed)abstract
- Aim: To test if training and support, financial reimbursement and option of referring screen-positive patients to an internet-based method of giving advice (eBI) can increase primary health-care providers' delivery of Alcohol Use Disorders Identification Test (AUDIT)-C-based screening and advice to heavy drinkers. Design: Cluster randomized factorial trial with 12-week implementation and measurement period. Setting: Primary health-care units (PHCU) in different locations throughout Catalonia, England, the Netherlands, Poland and Sweden. Participants: A total of 120 PHCU, 24 in each of Catalonia, England, the Netherlands, Poland and Sweden. Interventions: PHCUs were randomized to one of eight groups: care as usual, training and support (TS), financial reimbursement (FR) and eBI; paired combinations of TS, FR and eBI, and all of FR, TS and eBI. Measurements: The primary outcome measure was the proportion of eligible adult (age 18+ years) patients screened during a 12-week implementation period. Secondary outcome measures were proportion of screen-positive patients advised; and proportion of consulting adult patients given an intervention (screening and advice to screen-positives) during the same 12-week implementation period. Findings: During a 4-week baseline measurement period, the proportion of consulting adult patients who were screened for their alcohol consumption was 0.059 per PHCU (95% CI 0.034 to 0.084). Based on the factorial design, the ratio of the logged proportion screened during the 12-week implementation period was 1.48 (95% CI=1.13–1.95) in PHCU that received TS versus PHCU that did not receive TS; for FR, the ratio was 2.00 (95% CI=1.56–2.56). The option of referral to eBI did not lead to a higher proportion of patients screened. The ratio for TS plus FR was 2.34 (95% CI=1.77–3.10), and the ratio for TS plus FR plus eBI was1.68 (95% CI=1.11–2.53). Conclusions: Providing primary health-care units with training, support and financial reimbursement for delivering Alcohol Use Disorders Identification Test-C-based screening and advice to heavy drinkers increases screening for alcohol consumption. Providing primary health-care units with the option of referring screen-positive patients to an internet-based method of giving advice does not appear to increase screening for alcohol consumption. © 2016 Society for the Study of Addiction
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| 13. |
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| 14. |
- Palacio-Vieira, J., et al.
(author)
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Improving screening and brief intervention activities in primary health care: Secondary analysis of professional accuracy based on the AUDIT-C
- 2018
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In: Journal of Evaluation In Clinical Practice. - : WILEY. - 1356-1294 .- 1365-2753. ; 24:2, s. 369-374
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Journal article (peer-reviewed)abstract
- Introduction and objectiveThe ODHIN trial found that training and support and financial reimbursement increased the proportion of patients that were screened and given advice for their heavy drinking in primary health care. However, the impact of these strategies on professional accuracy in delivering screening and brief advice is underresearched and is the focus of this paper. MethodFrom 120 primary health care units (24 in each jurisdiction: Catalonia, England, the Netherlands, Poland, and Sweden), 746 providers participated in the baseline and the 12-week implementation periods. Accuracy was measured in 2 ways: correctness in completing and scoring the screening instrument, AUDIT-C; the proportion of screen-negative patients given advice, and the proportion of screen-positive patients not given advice. Odds ratios of accuracy were calculated for type of profession and for intervention group: training and support, financial reimbursement, and internet-based counselling. ResultsThirty-two of 36711 questionnaires were incorrectly completed, and 65 of 29641 screen-negative patients were falsely classified. At baseline, 27% of screen-negative patients were given advice, and 22.5% screen-positive patients were not given advice. These proportions halved during the 12-week implementation period, unaffected by training. Financial reimbursement reduced the proportion of screen-positive patients not given advice (OR=0.56; 95% CI, 0.31-0.99; Pamp;lt;.05). ConclusionAlthough the use of AUDIT-C as a screening tool was accurate, a considerable proportion of risky drinkers did not receive advice, which was reduced with financial incentives.
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| 15. |
- Anastasopoulos, M., et al.
(author)
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Multi-Grid detector for neutron spectroscopy : Results obtained on time-of-flight spectrometer CNCS
- 2017
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In: Journal of Instrumentation. - : IOP PUBLISHING LTD. - 1748-0221. ; 12:4
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Journal article (peer-reviewed)abstract
- The Multi-Grid detector technology has evolved from the proof-of-principle and characterisation stages. Here we report on the performance of the Multi-Grid detector, the MG.CNCS prototype, which has been installed and tested at the Cold Neutron Chopper Spectrometer, CNCS at SNS. This has allowed a side-by-side comparison to the performance of 3He detectors on an operational instrument. The demonstrator has an active area of 0.2 m2. It is specifically tailored to the specifications of CNCS. The detector was installed in June 2016 and has operated since then, collecting neutron scattering data in parallel to the He-3 detectors of CNCS. In this paper, we present a comprehensive analysis of this data, in particular on instrument energy resolution, rate capability, background and relative efficiency. Stability, gamma-ray and fast neutron sensitivity have also been investigated. The effect of scattering in the detector components has been measured and provides input to comparison for Monte Carlo simulations. All data is presented in comparison to that measured by the 3He detectors simultaneously, showing that all features recorded by one detector are also recorded by the other. The energy resolution matches closely. We find that the Multi-Grid is able to match the data collected by 3He, and see an indication of a considerable advantage in the count rate capability. Based on these results, we are confident that the Multi-Grid detector will be capable of producing high quality scientific data on chopper spectrometers utilising the unprecedented neutron flux of the ESS.
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| 16. |
- Buena-Atienza, E, et al.
(author)
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De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy
- 2016
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In: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 6, s. 28253-
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Journal article (peer-reviewed)abstract
- X-linked cone dysfunction disorders such as Blue Cone Monochromacy and X-linked Cone Dystrophy are characterized by complete loss (of) or reduced L- and M- cone function due to defects in the OPN1LW/OPN1MW gene cluster. Here we investigated 24 affected males from 16 families with either a structurally intact gene cluster or at least one intact single (hybrid) gene but harbouring rare combinations of common SNPs in exon 3 in single or multiple OPN1LW and OPN1MW gene copies. We assessed twelve different OPN1LW/MW exon 3 haplotypes by semi-quantitative minigene splicing assay. Nine haplotypes resulted in aberrant splicing of ≥20% of transcripts including the known pathogenic haplotypes (i.e. ‘LIAVA’, ‘LVAVA’) with absent or minute amounts of correctly spliced transcripts, respectively. De novo formation of the ‘LIAVA’ haplotype derived from an ancestral less deleterious ‘LIAVS’ haplotype was observed in one family with strikingly different phenotypes among affected family members. We could establish intrachromosomal gene conversion in the male germline as underlying mechanism. Gene conversion in the OPN1LW/OPN1MW genes has been postulated, however, we are first to demonstrate a de novo gene conversion within the lineage of a pedigree.
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| 17. |
- Birch, Heather S., et al.
(author)
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Partial collapse of the marine carbon pump after the Cretaceous-Paleogene boundary
- 2016
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In: Geology. - 0091-7613 .- 1943-2682. ; 44:4, s. 287-290
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Journal article (peer-reviewed)abstract
- The impact of an asteroid at the end of the Cretaceous caused mass extinctions in the oceans. A rapid collapse in surface to deep-ocean carbon isotope gradients suggests that transfer of organic matter to the deep sea via the biological pump was severely perturbed. However, this view has been challenged by the survival of deep-sea benthic organisms dependent on surface-derived food and uncertainties regarding isotopic fractionation in planktic foraminifera used as tracers. Here we present new stable carbon (delta C-13) and oxygen (delta O-18) isotope data measured on carefully selected planktic and benthic foraminifera from an orbitally dated deep-sea sequence in the southeast Atlantic. Our approach uniquely combines delta O-18 evidence for habitat depth of foraminiferal tracer species with species-specific delta C-13 eco-adjustments, and compares isotopic patterns with corresponding benthic assemblage data. Our results show that changes in ocean circulation and foraminiferal vital effects contribute to but cannot explain all of the observed collapse in surface to deep-ocean foraminiferal delta C-13 gradient. We conclude that the biological pump was weakened as a consequence of marine extinctions, but less severely and for a shorter duration (maximum of 1.77 m.y.) than has previously been suggested.
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| 18. |
- Chen, Yen-Ting, et al.
(author)
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Determination of critical diameters for intrinsic carrier diffusion-length of GaN nanorods with cryo-scanning near-field optical microscopy
- 2016
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In: Scientific Reports. - : NATURE PUBLISHING GROUP. - 2045-2322. ; 6:21482, s. 1-7
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Journal article (peer-reviewed)abstract
- Direct measurements of carrier diffusion in GaN nanorods with a designed InGaN/GaN layer-in-a-wire structure by scanning near-field optical microscopy (SNOM) were performed at liquid-helium temperatures of 10 K. Without an applied voltage, intrinsic diffusion lengths of photo-excited carriers were measured as the diameters of the nanorods differ from 50 to 800 nm. The critical diameter of nanorods for carrier diffusion is concluded as 170 nm with a statistical approach. Photoluminescence spectra were acquired for different positions of the SNOM tip on the nanorod, corresponding to the origins of the well-defined luminescence peaks, each being related to recombination-centers. The phenomenon originated from surface oxide by direct comparison of two nanorods with similar diameters in a single map has been observed and investigated.
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| 19. |
- Garcia-Carreras, Luis, et al.
(author)
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The Impact of Parameterized Convection on the Simulation of Crop Processes
- 2015
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In: Journal of Applied Meteorology and Climatology. - 1558-8424 .- 1558-8432. ; 54:6, s. 1283-1296
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Journal article (peer-reviewed)abstract
- Global climate and weather models are a key tool for the prediction of future crop productivity, but they all rely on parameterizations of atmospheric convection, which often produce significant biases in rainfall characteristics over the tropics. The authors evaluate the impact of these biases by driving the General Large Area Model for annual crops (GLAM) with regional-scale atmospheric simulations of one cropping season over West Africa at different resolutions, with and without a parameterization of convection, and compare these with a GLAM run driven by observations. The parameterization of convection produces too light and frequent rainfall throughout the domain, as compared with the short, localized, high-intensity events in the observations and in the convection-permitting runs. Persistent light rain increases surface evaporation, and much heavier rainfall is required to trigger planting. Planting is therefore delayed in the runs with parameterized convection and occurs at a seasonally cooler time, altering the environmental conditions experienced by the crops. Even at high resolutions, runs driven by parameterized convection underpredict the small-scale variability in yields produced by realistic rainfall patterns. Correcting the distribution of rainfall frequencies and intensities before use in crop models will improve the process-based representation of the crop life cycle, increasing confidence in the predictions of crop yield. The rainfall biases described here are a common feature of parameterizations of convection, and therefore the crop-model errors described are likely to occur when using any global weather or climate model, thus remaining hidden when using climate-model intercomparisons to evaluate uncertainty.
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| 20. |
- Jimenez Berrocoso, Alvaro, et al.
(author)
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The Lindi Formation (upper Albian-Coniacian) and Tanzania Drilling Project Sites 36-40 (Lower Cretaceous to Paleogene) : Lithostratigraphy, biostratigraphy and chemostratigraphy
- 2015
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In: Journal of African earth sciences. - : Elsevier BV. - 1464-343X. ; 101, s. 282-308
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Journal article (peer-reviewed)abstract
- The 2009 Tanzania Drilling Project (TDP) expedition to southeastern Tanzania cored a total of 572.3 m of sediments at six new mid-Cretaceous to mid-Paleocene boreholes (TDP Sites 36, 37, 38, 39, 40A, 40B). Added to the sites drilled in 2007 and 2008, the new boreholes confirm the common excellent preservation of planktonic and benthic foraminifera and calcareous nannofossils from core samples that will be used for biostratigraphy, evolutionary studies, paleoceanography and climatic reconstructions from the Tanzanian margin, with implications elsewhere. The new sites verify the presence of a relatively expanded Upper Cretaceous succession in the region that has allowed a new stratigraphic unit, named here as the Lindi Formation (Fm), to be formally defined. The Lindi Fm (upper Albian to Coniacian), extending similar to 120 km between Kilwa and Lindi, comprises a 335-m-thick, outer-shelf to upper-slope unit, consisting of dark gray claystone and siltstone interbeds, common finely-laminated intervals, minor cm-thick sandstones and up to 2.6% organic carbon in the Turonian. A subsurface, composite stratotype section is proposed for the Lindi Fm, with a gradational top boundary with the overlying Nangurukuru Fm (Santonian to Maastrichtian) and a sharp bottom contact with underlying upper Albian sandstones. The section cored at TDP Sites 36 and 38 belongs to the Lindi Fm and are of lower to middle Turonian age (planktonic foraminifera Whiteinella archaeocretacea to Helvetoglobotruncana helvetica Zones and nannofossils subzones UC6b +/- UC7). The lower portion of TDP Site 39 (uppermost part of the Lindi Fm) is assigned to the lower to upper Coniacian (planktonic foraminifera Dicarinella concavata Zone and nannofossils zone UC 10), while the remaining part of this site is attributed to the Coniacian-Santonian transition and younger Santonian (planktonic foraminifera D. asymetrica Zone and upper part of nannofossils zone UC10). TDP Site 37 recovered relatively expanded (150 m thick), monotonous calcareous claystones from the lower to upper Maastrichtian (planktonic foraminifera Pseudoguembelina palpebra to Abathomphalus mayaroensis Zones and nannofossils zones UC19 to UC20a(TP)) that were separated by a hiatus and/or a faulted contact from overlying brecciated carbonates of the Selandian (middle Paleocene: PF Zone P3 and nannofossil zone NP5). The lower portion of TDP Sites 40A and 40B recovered sandstones and conglomerates barren of microfossils. Their overlying parts were assigned to incomplete sections of the nannofossil zones NC6A to NC8 (uppermost Barremian to lower Albian). Benthic foraminiferal assemblages allowed the Barremian to lower Aptian to be identified in TDP Sites 40A and 40B, while the upper Aptian to middle Albian (Hedbergella trocoidea to Ticinella primula Zones) were assigned using planktonic foraminifera. Cores recovered at TDP 39 (Coniacian-Santonian) and at TDP Sites 40A and 40B (Barremian-middle Albian) represent the first time that these two intervals have been continuously cored and publicly documented in Tanzania. Bulk sediment isotope records generated for the new sites show lower delta O-18(carb) values in the Turonian and Santonian (similar to-3.5 parts per thousand to -5 parts per thousand) than in the Maastrichtian (similar to-3 parts per thousand), a situation consistent with extreme global warmth in the older intervals and cooling toward the end of the Cretaceous. Also, similar to Turonian sites from previous TDP expeditions, a negative delta C-13(org) excursion was detected across the W. archaeocretacea-H. helvetica boundary of TDP Site 36 (close to, but above, the Cenomanian-Turonian boundary). This excursion probably responded to local processes in the region, but it is unknown whether they were related to the recovery phase from Ocean Anoxic Event 2.
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| 21. |
- Schmitt, Deanna M., et al.
(author)
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The role and mechanism of erythrocyte invasion by Francisella tularensis
- 2017
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In: Frontiers in Cellular and Infection Microbiology. - : Frontiers Media S.A.. - 2235-2988. ; 7
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Journal article (peer-reviewed)abstract
- Francisella tularensis is an extremely virulent bacterium that can be transmitted naturally by blood sucking arthropods. During mammalian infection, F. tularensis infects numerous types of host cells, including erythrocytes. As erythrocytes do not undergo phagocytosis or endocytosis, it remains unknown how F. tularensis invades these cells. Furthermore, the consequence of inhabiting the intracellular space of red blood cells (RBCs) has not been determined. Here, we provide evidence indicating that residing within an erythrocyte enhances the ability of F. tularensis to colonize ticks following a blood meal. Erythrocyte residence protected F. tularensis from a low pH environment similar to that of gut cells of a feeding tick. Mechanistic studies revealed that the F. tularensis type VI secretion system (T6SS) was required for erythrocyte invasion as mutation of mglA (a transcriptional regulator of T6SS genes), dotU, or iglC (two genes encoding T6SS machinery) severely diminished bacterial entry into RBCs. Invasion was also inhibited upon treatment of erythrocytes with venom from the Blue-bellied black snake (Pseudechis guttatus), which aggregates spectrin in the cytoskeleton, but not inhibitors of actin polymerization and depolymerization. These data suggest that erythrocyte invasion by F. tularensis is dependent on spectrin utilization which is likely mediated by effectors delivered through the T6SS. Our results begin to elucidate the mechanism of a unique biological process facilitated by F. tularensis to invade erythrocytes, allowing for enhanced colonization of ticks.
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| 22. |
- Shorter, G. W., et al.
(author)
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The ‘Outcome Reporting in Brief Intervention Trials : Alcohol’ (ORBITAL) framework: protocol to determine a core outcome set for efficacy and effectiveness trials of alcohol screening and brief intervention
- 2017
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In: Trials. - : Springer Science and Business Media LLC. - 1745-6215. ; 18
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Journal article (peer-reviewed)abstract
- Background: The evidence base to assess the efficacy and effectiveness of alcohol brief interventions (ABI) is weakened by variation in the outcomes measured and by inconsistent reporting. The 'Outcome Reporting in Brief Intervention Trials: Alcohol' (ORBITAL) project aims to develop a core outcome set (COS) and reporting guidance for its use in future trials of ABI in a range of settings.Methods/design: An international Special Interest Group was convened through INEBRIA (International Network on Brief Interventions for Alcohol and Other Drugs) to inform the development of a COS for trials of ABI. ORBITAL will incorporate a systematic review to map outcomes used in efficacy and effectiveness trials of ABI and their measurement properties, using the COnsensus-based Standards for the selection of health Measurement INstruments (COSMIN) criteria. This will support a multi-round Delphi study to prioritise outcomes. Delphi panellists will be drawn from a range of settings and stakeholder groups, and the Delphi study will also be used to determine if a single COS is relevant for all settings. A consensus meeting with key stakeholder representation will determine the final COS and associated guidance for its use in trials of ABI.Discussion: ORBITAL will develop a COS for alcohol screening and brief intervention trials, with outcomes stratified into domains and guidance on outcome measurement instruments. The standardisation of ABI outcomes and their measurement will support the ongoing development of ABI studies and a systematic synthesis of emerging research findings. We will track the extent to which the COS delivers on this promise through an exploration of the use of the guidance in the decade following COS publication.
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| 23. |
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| 24. |
- Weisschuh, Nicole, et al.
(author)
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Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
- 2016
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In: PLoS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 11:1
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Journal article (peer-reviewed)abstract
- Retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by clinical variability and pronounced genetic heterogeneity. The different nonsyndromic and syndromic forms of RD can be attributed to mutations in more than 200 genes. Consequently, next generation sequencing (NGS) technologies are among the most promising approaches to identify mutations in RD. We screened a large cohort of patients comprising 89 independent cases and families with various subforms of RD applying different NGS platforms. While mutation screening in 50 cases was performed using a RD gene capture panel, 47 cases were analyzed using whole exome sequencing. One family was analyzed using whole genome sequencing. A detection rate of 61% was achieved including mutations in 34 known and two novel RD genes. A total of 69 distinct mutations were identified, including 39 novel mutations. Notably, genetic findings in several families were not consistent with the initial clinical diagnosis. Clinical reassessment resulted in refinement of the clinical diagnosis in some of these families and confirmed the broad clinical spectrum associated with mutations in RD genes.
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| 25. |
- Wendin, Karin, 1963-, et al.
(author)
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Insects as food : a pilot study for industrial production
- 2019
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In: 13th Pangborn Sensory Science Symposium.
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Conference paper (peer-reviewed)abstract
- Despite the many papers reporting on disgust factors of eating insects in Western cultures, the interest of insects as food is increasing, not least because they are nutritious, sustainable and tasty! The time has come to take the next step by making insects available not only as delicious restaurant food, but also for industrial production of foods and meals based on insects. The sensory attributes are of greatest importance to increase understanding of insects as a main ingredient in production and shelf life. By the use of factorial designs with mealworms as main ingredient, the aim was to evaluate the sensory impact of additions such as salt, oil/water and antioxidant agent. Also the impact of particle size of the mealworms was evaluated.Cooked fresh mealworms cut or ground into different particle sizes, oil, water, salt and rosemary were blended according to a factorial design. The resulting products were evaluated by descriptive sensory analysis in addition to instrumental measurements of viscosity and colour. Nutritional contents were calculated. Results showed that particle size of the mealworms had a great impact, ie an increased particle size increased the yellowness and the perceived coarseness. Further, both viscosity and crispiness increased. An increased particle size also meant a decreased odour, probably due to decreased exposure of particle surface. Increased salt content did, as expected, increase saltiness. It also increased the nutty flavour, probably due to the polarity of Sodium Chloride. Different ratios of oil/water did not seem to impact the sensory properties. With reference to the anti-oxidative effects of carnosic acid and carnosol, addition of rosemary had a significant impact on shelf life in terms of decreased rancidity and colour changes. All samples were high in protein content. All factors, but especially particle size of the mealworm fraction, influenced the sensory attributes.
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| 26. |
- Wendin, Karin, et al.
(author)
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Insects as food : a pilot study for industrial production
- 2019
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In: Book of Abstracts of the EAAP 70<sup>th</sup> Annual Meeting of the European Federation of Animal Science. - Ghent. - 9789086863396 ; , s. -161
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Conference paper (peer-reviewed)abstract
- Despite the many papers reporting on disgust factors of eating insects in Western cultures, the interest of insects as food is increasing, not least because they are nutritious, sustainable and tasty! The time has come to take the next step by making insects available not only as delicious restaurant food, but also for industrial production of foods and meals based on insects. The sensory attributes are of greatest importance to increase understanding of insects as a main ingredient in production and shelf life. By the use of factorial designs with mealworms as main ingredient, the aim was to evaluate the sensory impact of additions such as salt, oil/water and antioxidant agent. Also the impact of particle size of the mealworms was evaluated.Cooked fresh mealworms cut or ground into different particle sizes, oil, water, salt and rosemary were blended according to a factorial design. The resulting products were evaluated by descriptive sensory analysis in addition to instrumental measurements of viscosity and colour. Nutritional contents were calculated. Results showed that particle size of the mealworms had a great impact, ie an increased particle size increased the yellowness and the perceived coarseness. Further, both viscosity and crispiness increased. An increased particle size also meant a decreased odour, probably due to decreased exposure of particle surface. Increased salt content did, as expected, increase saltiness. It also increased the nutty flavour, probably due to the polarity of Sodium Chloride. Different ratios of oil/water did not seem to impact the sensory properties. With reference to the anti-oxidative effects of carnosic acid and carnosol, addition of rosemary had a significant impact on shelf life in terms of decreased rancidity and colour changes. All samples were high in protein content. All factors, but especially particle size of the mealworm fraction, influenced the sensory attributes.
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| 27. |
- Wendin, Karin, et al.
(author)
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Insects as food : a pilot study for industrial production
- 2019
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Conference paper (other academic/artistic)abstract
- Despite the many papers reporting on disgust factors of eating insects in Western cultures, the interest of insects as food is increasing, not least because they are nutritious, sustainable and tasty! The time has come to take the next step by making insects available not only as delicious restaurant food, but also for industrial production of foods and meals based on insects. The sensory attributes are of greatest importance to increase understanding of insects as a main ingredient in production and shelf life. By the use of factorial designs with mealworms as main ingredient, the aim was to evaluate the sensory impact of additions such as salt, oil/water and antioxidant agent. Also the impact of particle size of the mealworms was evaluated. Cooked fresh mealworms cut or ground into different particle sizes, oil, water, salt and rosemary were blended according to a factorial design. The resulting products were evaluated by descriptive sensory analysis in addition to instrumental measurements of viscosity and colour. Nutritional contents were calculated. Results showed that particle size of the mealworms had a great impact, ie an increased particle size increased the yellowness and the perceived coarseness. Further, both viscosity and crispiness increased. An increased particle size also meant a decreased odour, probably due to decreased exposure of particle surface. Increased salt content did, as expected, increase saltiness. It also increased the nutty flavour, probably due to the polarity of Sodium Chloride. Different ratios of oil/water did not seem to impact the sensory properties. With reference to the anti-oxidative effects of carnosic acid and carnosol, addition of rosemary had a significant impact on shelf life in terms of decreased rancidity and colour changes. All samples were high in protein content. All factors, but especially particle size of the mealworm fraction, influenced the sensory attributes.
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