| 1. |
- Linehan, Christine, et al.
(författare)
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Exploring the prevalence and profile of epilepsy across Europe using a standard retrospective chart review : Challenges and opportunities
- 2021
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Ingår i: Epilepsia. - : John Wiley & Sons. - 0013-9580 .- 1528-1167. ; 62:11, s. 2651-2666
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Tidskriftsartikel (refereegranskat)abstract
- Objective: This study aimed to determine the prevalence of epilepsy in four European countries (Austria, Denmark, Ireland, and Romania) employing a standard methodology. The study was conducted under the auspices of ESBACE (European Study on the Burden and Care of Epilepsy).Methods: All hospitals and general practitioners serving a region of at least 50 000 persons in each country were asked to identify patients living in the region who had a diagnosis of epilepsy or experienced a single unprovoked seizure. Medical records were accessed, where available, to complete a standardized case report form. Data were sought on seizure frequency, seizure type, investigations, etiology, comorbidities, and use of antiseizure medication. Cases were validated in each country, and the degree of certainty was graded as definite, probable, or suspect cases.Results: From a total population of 237 757 in the four countries, 1988 (.8%) patients were identified as potential cases of epilepsy. Due to legal and ethical issues in the individual countries, medical records were available for only 1208 patients, and among these, 113 had insufficient clinical information. The remaining 1095 cases were classified as either definite (n = 706, 64.5%), probable (n = 191, 17.4%), suspect (n = 153, 14.0%), or not epilepsy (n = 45, 4.1%).Significance: Although a precise prevalence estimate could not be generated from these data, the study found a high validity of epilepsy classification among evaluated cases (95.9%). More generally, this study highlights the significant challenges facing epidemiological research methodologies that are reliant on patient consent and retrospective chart review, largely due to the introduction of data protection legislation during the study period. Documentation of the epilepsy diagnosis was, in some cases, relatively low, indicating a need for improved guidelines for assessment, follow-up, and documentation. This study highlights the need to address the concerns and requirements of recruitment sites to engage in epidemiological research.
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| 2. |
- Marçal, Lucas A.B., et al.
(författare)
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Inducing ferroelastic domains in single-crystal CsPbBr3 perovskite nanowires using atomic force microscopy
- 2021
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Ingår i: Physical Review Materials. - 2475-9953. ; 5:6
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Tidskriftsartikel (refereegranskat)abstract
- Ferroelectric and ferroelastic domains have been predicted to enhance metal halide perovskite (MHP) solar cell performance. While the formation of such domains can be modified by temperature, pressure, or strain, established methods lack spatial control at the level of single domains. Here, we induce the formation of ferroelastic domains in CsPbBr3 nanowires at room temperature using an atomic force microscope (AFM) tip and visualize the domains using nanofocused x-ray diffraction with a 60 nm beam. Regions scanned with a low AFM tip force show orthorhombic 004 reflections along the nanowire axis, while regions exposed to higher forces exhibit 220 reflections. The applied stress locally changes the crystal structure, leading to lattice tilts that define ferroelastic domains, which spread spatially and terminate at {112}-type domain walls. The ability to induce individual ferroelastic domains within MHPs using AFM gives new possibilities for device design and fundamental experimental studies.
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| 3. |
- Newton-Cheh, Christopher, et al.
(författare)
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Genome-wide association study identifies eight loci associated with blood pressure
- 2009
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 41:6, s. 666-676
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Tidskriftsartikel (refereegranskat)abstract
- Elevated blood pressure is a common, heritable cause of cardiovascular disease worldwide. To date, identification of common genetic variants influencing blood pressure has proven challenging. We tested 2.5 million genotyped and imputed SNPs for association with systolic and diastolic blood pressure in 34,433 subjects of European ancestry from the Global BPgen consortium and followed up findings with direct genotyping (N <= 71,225 European ancestry, N <= 12,889 Indian Asian ancestry) and in silico comparison (CHARGE consortium, N 29,136). We identified association between systolic or diastolic blood pressure and common variants in eight regions near the CYP17A1 (P = 7 x 10(-24)), CYP1A2 (P = 1 x 10(-23)), FGF5 (P = 1 x 10(-21)), SH2B3 (P = 3 x 10(-18)), MTHFR (P = 2 x 10(-13)), c10orf107 (P = 1 x 10(-9)), ZNF652 (P = 5 x 10(-9)) and PLCD3 (P = 1 x 10(-8)) genes. All variants associated with continuous blood pressure were associated with dichotomous hypertension. These associations between common variants and blood pressure and hypertension offer mechanistic insights into the regulation of blood pressure and may point to novel targets for interventions to prevent cardiovascular disease.
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| 4. |
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| 5. |
- Padmanabhan, Sandosh, et al.
(författare)
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Genome-Wide Association Study of Blood Pressure Extremes Identifies Variant near UMOD Associated with Hypertension
- 2010
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Ingår i: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7404. ; 6:10
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Tidskriftsartikel (refereegranskat)abstract
- Hypertension is a heritable and major contributor to the global burden of disease. The sum of rare and common genetic variants robustly identified so far explain only 1%-2% of the population variation in BP and hypertension. This suggests the existence of more undiscovered common variants. We conducted a genome-wide association study in 1,621 hypertensive cases and 1,699 controls and follow-up validation analyses in 19,845 cases and 16,541 controls using an extreme case-control design. We identified a locus on chromosome 16 in the 59 region of Uromodulin (UMOD; rs13333226, combined P value of 3.6x10(-11)). The minor G allele is associated with a lower risk of hypertension (OR [95% CI]: 0.87 [0.84-0.91]), reduced urinary uromodulin excretion, better renal function; and each copy of the G allele is associated with a 7.7% reduction in risk of CVD events after adjusting for age, sex, BMI, and smoking status (H.R. = 0.923, 95% CI 0.860-0.991; p = 0.027). In a subset of 13,446 individuals with estimated glomerular filtration rate (eGFR) measurements, we show that rs13333226 is independently associated with hypertension (unadjusted for eGFR: 0.89 [0.83-0.96], p = 0.004; after eGFR adjustment: 0.89 [0.83-0.96], p = 0.003). In clinical functional studies, we also consistently show the minor G allele is associated with lower urinary uromodulin excretion. The exclusive expression of uromodulin in the thick portion of the ascending limb of Henle suggests a putative role of this variant in hypertension through an effect on sodium homeostasis. The newly discovered UMOD locus for hypertension has the potential to give new insights into the role of uromodulin in BP regulation and to identify novel drugable targets for reducing cardiovascular risk.
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| 6. |
- Sormani, Mattia C., et al.
(författare)
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Self-consistent modelling of the Milky Way's nuclear stellar disc
- 2022
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Ingår i: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 512:2, s. 1857-1884
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Tidskriftsartikel (refereegranskat)abstract
- The nuclear stellar disc (NSD) is a flattened high-density stellar structure that dominates the gravitational field of the Milky Way at Galactocentric radius $30\, {\rm pc}\lesssim R\lesssim 300\, {\rm pc}$. We construct axisymmetric self-consistent equilibrium dynamical models of the NSD in which the distribution function is an analytic function of the action variables. We fit the models to the normalized kinematic distributions (line-of-sight velocities + VIRAC2 proper motions) of stars in the NSD survey of Fritz et al., taking the foreground contamination due to the Galactic Bar explicitly into account using an N-body model. The posterior marginalized probability distributions give a total mass of $M{\rm NSD} = 10.5{+1.1}{-1.0} \times 108 \, \, \rm M\odot$, roughly exponential radial and vertical scale lengths of $R{\rm disc} = 88.6{+9.2}{-6.9} \, {\rm pc}$ and $H{\rm disc}=28.4{+5.5}{-5.5} \, {\rm pc}$, respectively, and a velocity dispersion $\sigma \simeq 70\, {\rm km\, s{-1}}$ that decreases with radius. We find that the assumption that the NSD is axisymmetric provides a good representation of the data. We quantify contamination from the Galactic Bar in the sample, which is substantial in most observed fields. Our models provide the full 6D (position + velocity) distribution function of the NSD, which can be used to generate predictions for future surveys. We make the models publicly available as part of the software package agama.
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| 7. |
- Sumaila, U. Rashid, et al.
(författare)
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WTO must ban harmful fisheries subsidies
- 2021
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 374:6567, s. 544-544
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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