| 1. |
|
|
| 2. |
- Fabian, ID, et al.
(author)
-
Travel burden and clinical presentation of retinoblastoma: analysis of 1024 patients from 43 African countries and 518 patients from 40 European countries
- 2021
-
In: The British journal of ophthalmology. - : BMJ. - 1468-2079 .- 0007-1161. ; 105:10, s. 1435-1443
-
Journal article (peer-reviewed)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.
|
|
| 3. |
|
|
| 4. |
|
|
| 5. |
- Schiller, D, et al.
(author)
-
The Human Affectome
- 2024
-
In: Neuroscience and biobehavioral reviews. - 1873-7528. ; 158, s. 105450-
-
Journal article (peer-reviewed)
|
|
| 6. |
- Benjamin, L. A., et al.
(author)
-
Antiphospholipid antibodies and neurological manifestations in acute COVID-19: A single-centre cross-sectional study
- 2021
-
In: Eclinicalmedicine. - : Elsevier BV. - 2589-5370. ; 39
-
Journal article (peer-reviewed)abstract
- Background: A high prevalence of antiphospholipid antibodies has been reported in case series of patients with neurological manifestations and COVID-19; however, the pathogenicity of antiphospholipid antibodies in COVID-19 neurology remains unclear. Methods: This single-centre cross-sectional study included 106 adult patients: 30 hospitalised COVID-neurological cases, 47 non-neurological COVID-hospitalised controls, and 29 COVID-non-hospitalised controls, recruited between March and July 2020. We evaluated nine antiphospholipid antibodies: anticardiolipin antibodies [aCL] IgA, IgM, IgG; anti-beta-2 glycoprotein-1 [a beta(2)GPI] IgA, IgM, IgG; anti-phosphatidylserine/prothrombin [aPS/PT] IgM, IgG; and anti-domain I b2GPI (aD1 beta 2GPI) IgG. Findings: There was a high prevalence of antiphospholipid antibodies in the COVID-neurological (73.3%) and non-neurological COVID-hospitalised controls (76.6%) in contrast to the COVID-non-hospitalised controls (48.2%). aPS/PT IgG titres were significantly higher in the COVID-neurological group compared to both control groups (p < 0.001). Moderate-high titre of aPS/PT IgG was found in 2 out of 3 (67%) patients with acute disseminated encephalomyelitis [ADEM]. aPS/PT IgG titres negatively correlated with oxygen requirement (FiO(2) R=-0.15 p = 0.040) and was associated with venous thromboembolism (p = 0.043). In contrast, aCL IgA (p < 0.001) and IgG (p < 0.001) was associated with non-neurological COVID-hospitalised controls compared to the other groups and correlated positively with D-dimer and creatinine but negatively with FiO(2). Interpretation: Our findings show that aPS/PT IgG is associated with COVID-19-associated ADEM. In contrast, aCL IgA and IgG are seen much more frequently in non-neurological hospitalised patients with COVID-19. Characterisation of antiphospholipid antibody persistence and potential longitudinal clinical impact are required to guide appropriate management. (C) 2021 The Author(s). Published by Elsevier Ltd.
|
|
| 7. |
- Eggink, E, et al.
(author)
-
Prevention of dementia using mobile phone applications (PRODEMOS): protocol for an international randomised controlled trial
- 2021
-
In: BMJ open. - : BMJ. - 2044-6055. ; 11:6, s. e049762-
-
Journal article (peer-reviewed)abstract
- Profiles of high risk for future dementia are well understood and are likely to concern mostly those in low-income and middle-income countries and people at greater disadvantage in high-income countries. Approximately 30%–40% of dementia cases have been estimated to be attributed to modifiable risk factors, including hypertension, smoking and sedentary lifestyle. Tailored interventions targeting these risk factors can potentially prevent or delay the onset of dementia. Mobile health (mHealth) improves accessibility of such prevention strategies in hard-to-reach populations while at the same time tailoring such approaches. In the current study, we will investigate the effectiveness and implementation of a coach-supported mHealth intervention, targeting dementia risk factors, to reduce dementia risk.Methods and analysisThe prevention of dementia using mobile phone applications (PRODEMOS) randomised controlled trial will follow an effectiveness–implementation hybrid design, taking place in the UK and China. People are eligible if they are 55–75 years old, of low socioeconomic status (UK) or from the general population (China); have ≥2 dementia risk factors; and own a smartphone. 2400 participants will be randomised to either a coach-supported, interactive mHealth platform, facilitating self-management of dementia risk factors, or a static control platform. The intervention and follow-up period will be 18 months. The primary effectiveness outcome is change in the previously validated Cardiovascular Risk Factors, Ageing and Incidence of Dementia dementia risk score. The main secondary outcomes include improvement of individual risk factors and cost-effectiveness. Implementation outcomes include acceptability, adoption, feasibility and sustainability of the intervention.Ethics and disseminationThe PRODEMOS trial is sponsored in the UK by the University of Cambridge and is granted ethical approval by the London—Brighton and Sussex Research Ethics Committee (reference: 20/LO/01440). In China, the trial is approved by the medical ethics committees of Capital Medical University, Beijing Tiantan Hospital, Beijing Geriatric Hospital, Chinese People’s Liberation Army General Hospital, Taishan Medical University and Xuanwu Hospital. Results will be published in a peer-reviewed journal.Trial registration numberISRCTN15986016.
|
|
| 8. |
- Garai, Z., et al.
(author)
-
Refined parameters of the HD 22946 planetary system and the true orbital period of planet d
- 2023
-
In: Astronomy and Astrophysics. - 0004-6361 .- 1432-0746. ; 674
-
Journal article (peer-reviewed)abstract
- Context. Multi-planet systems are important sources of information regarding the evolution of planets. However, the long-period planets in these systems often escape detection. These objects in particular may retain more of their primordial characteristics compared to close-in counterparts because of their increased distance from the host star. HD 22946 is a bright (G = 8.13 mag) late F-type star around which three transiting planets were identified via Transiting Exoplanet Survey Satellite (TESS) photometry, but the true orbital period of the outermost planet d was unknown until now. Aims. We aim to use the Characterising Exoplanet Satellite (CHEOPS) space telescope to uncover the true orbital period of HD 22946d and to refine the orbital and planetary properties of the system, especially the radii of the planets. Methods. We used the available TESS photometry of HD 22946 and observed several transits of the planets b, c, and d using CHEOPS. We identified two transits of planet d in the TESS photometry, calculated the most probable period aliases based on these data, and then scheduled CHEOPS observations. The photometric data were supplemented with ESPRESSO (Echelle SPectrograph for Rocky Exoplanets and Stable Spectroscopic Observations) radial velocity data. Finally, a combined model was fitted to the entire dataset in order to obtain final planetary and system parameters. Results. Based on the combined TESS and CHEOPS observations, we successfully determined the true orbital period of the planet d to be 47.42489 ± 0.00011 days, and derived precise radii of the planets in the system, namely 1.362 ± 0.040 R, 2.328 ± 0.039 R, and 2.607 ± 0.060 R for planets b, c, and d, respectively. Due to the low number of radial velocities, we were only able to determine 3σ upper limits for these respective planet masses, which are 13.71 M, 9.72 M, and 26.57 M. We estimated that another 48 ESPRESSO radial velocities are needed to measure the predicted masses of all planets in HD 22946. We also derived stellar parameters for the host star. Conclusions. Planet c around HD 22946 appears to be a promising target for future atmospheric characterisation via transmission spectroscopy. We can also conclude that planet d, as a warm sub-Neptune, is very interesting because there are only a few similar confirmed exoplanets to date. Such objects are worth investigating in the near future, for example in terms of their composition and internal structure.
|
|
| 9. |
- Osborn, H. P., et al.
(author)
-
Uncovering the true periods of the young sub-Neptunes orbiting TOI-2076
- 2022
-
In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 664
-
Journal article (peer-reviewed)abstract
- Context. TOI-2076 is a transiting three-planet system of sub-Neptunes orbiting a bright (G = 8.9 mag), young (340 +/- 80 Myr) K-type star. Although a validated planetary system, the orbits of the two outer planets were unconstrained as only two non-consecutive transits were seen in TESS photometry. This left 11 and 7 possible period aliases for each. Aims. To reveal the true orbits of these two long-period planets, precise photometry targeted on the highest-probability period aliases is required. Long-term monitoring of transits in multi-planet systems can also help constrain planetary masses through TTV measurements. Methods. We used the MonoTools package to determine which aliases to follow, and then performed space-based and ground-based photometric follow-up of TOI-2076 c and d with CHEOPS, SAINT-EX, and LCO telescopes. Results. CHEOPS observations revealed a clear detection for TOI-2076 c at P = 21.01538(-0.00074)(+0.00084) d, and allowed us to rule out three of the most likely period aliases for TOI-2076 d. Ground-based photometry further enabled us to rule out remaining aliases and confirm the P = 35.12537 +/- 0.00067 d alias. These observations also improved the radius precision of all three sub-Neptunes to 2.518 +/- 0.036, 3.497 +/- 0.043, and 3.232 +/- 0.063 R-circle plus. Our observations also revealed a clear anti-correlated TTV signal between planets b and c likely caused by their proximity to the 2:1 resonance, while planets c and d appear close to a 5:3 period commensurability, although model degeneracy meant we were unable to retrieve robust TTV masses. Their inflated radii, likely due to extended H-He atmospheres, combined with low insolation makes all three planets excellent candidates for future comparative transmission spectroscopy with JWST.
|
|
| 10. |
- Shrine, N, et al.
(author)
-
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk
- 2023
-
In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 55:3, s. 410-
-
Journal article (peer-reviewed)abstract
- Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of lung function to date, comprising 580,869 participants, we identified 1,020 independent association signals implicating 559 genes supported by ≥2 criteria from a systematic variant-to-gene mapping framework. These genes were enriched in 29 pathways. Individual variants showed heterogeneity across ancestries, age and smoking groups, and collectively as a genetic risk score showed strong association with COPD across ancestry groups. We undertook phenome-wide association studies for selected associated variants as well as trait and pathway-specific genetic risk scores to infer possible consequences of intervening in pathways underlying lung function. We highlight new putative causal variants, genes, proteins and pathways, including those targeted by existing drugs. These findings bring us closer to understanding the mechanisms underlying lung function and COPD, and should inform functional genomics experiments and potentially future COPD therapies.
|
|
