| 1. |
- Cruz, Raquel, et al.
(author)
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Novel genes and sex differences in COVID-19 severity
- 2022
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In: Human Molecular Genetics. - : Oxford University Press. - 0964-6906 .- 1460-2083. ; 31:22, s. 3789-3806
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Journal article (peer-reviewed)abstract
- Here, we describe the results of a genome-wide study conducted in 11 939 coronavirus disease 2019 (COVID-19) positive cases with an extensive clinical information that were recruited from 34 hospitals across Spain (SCOURGE consortium). In sex-disaggregated genome-wide association studies for COVID-19 hospitalization, genome-wide significance (P < 5 × 10−8) was crossed for variants in 3p21.31 and 21q22.11 loci only among males (P = 1.3 × 10−22 and P = 8.1 × 10−12, respectively), and for variants in 9q21.32 near TLE1 only among females (P = 4.4 × 10−8). In a second phase, results were combined with an independent Spanish cohort (1598 COVID-19 cases and 1068 population controls), revealing in the overall analysis two novel risk loci in 9p13.3 and 19q13.12, with fine-mapping prioritized variants functionally associated with AQP3 (P = 2.7 × 10−8) and ARHGAP33 (P = 1.3 × 10−8), respectively. The meta-analysis of both phases with four European studies stratified by sex from the Host Genetics Initiative (HGI) confirmed the association of the 3p21.31 and 21q22.11 loci predominantly in males and replicated a recently reported variant in 11p13 (ELF5, P = 4.1 × 10−8). Six of the COVID-19 HGI discovered loci were replicated and an HGI-based genetic risk score predicted the severity strata in SCOURGE. We also found more SNP-heritability and larger heritability differences by age (<60 or ≥60 years) among males than among females. Parallel genome-wide screening of inbreeding depression in SCOURGE also showed an effect of homozygosity in COVID-19 hospitalization and severity and this effect was stronger among older males. In summary, new candidate genes for COVID-19 severity and evidence supporting genetic disparities among sexes are provided.
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| 2. |
- Hernández-Moreno, Laura, et al.
(author)
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The Portuguese version of the activity inventory
- 2015
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In: Investigative Ophthalmology and Visual Science. - 0146-0404 .- 1552-5783. ; 56:7
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Journal article (peer-reviewed)abstract
- Purpose: To characterize interventions needed by the population with visual impairment or to assess interventions in vision rehabilitation validated and standardized instruments used in different cultural contexts are necessary. The aim of this work was to characterize the functional status of a sample of people with visual impairment with the Portuguese version of the activity inventory (AI)Methods: A group of participants in the study Prevalence and Costs of Visual Impairment in Portugal (PC-VIP) was recruit to face-to-face interviews and the activity inventory was administered. The AI examines 50 goals split between three objectives: social functioning, recreation and daily living. Goals rated ‘not important’ were skipped, but for all other goals the participant was asked to rate its difficulty on a five point scale ranging from ‘not difficult’ to ‘impossible without help’. The difficulty responses were Rasch analysed (Winsteps v3.81.0) to produce a continuous measure of visual ability (AI score). Additional information about distance and near visual acuity (ETDRS scale), contrast sensitivity (MARS test) and critical print size (MNREAD test) was collected.Results: A total of 94 persons participated in this study. Some participants were not able to read or recognize letters due to their poor vision or poor literacy and were excluded from further analysis. Data reported here are from 62 participants, median age 63y (range=12-85) and the most common cause of visual impairment were retinal diseases. Mean presenting acuity in the better eye was 0.93logMAR (SD=0.5). The mean difficulty (item measure) in the AI was -0.33 logits (SD=0.96). The most difficult items were "sew or do needlework", "read the newspaper", "drive" and the easiest items were "provide care for a pet", "eat your meals", "use the restroom in a public place". The mean ability score (person measures) was 1.11 logits (SD=2.04). The ability measures in the AI were correlated with distance visual acuity (r=-0.57, p<.001), near visual acuity (r=-0.66, p<0.001), contrast sensitivity (r=0.62, p<.001) and critical print size (r=-0.60, p<.001).Conclusions: Our results indicate that the AI scores in a sample of people Portuguese people with visual impairment were in line with what has been found in other cultural contexts. The visual ability measured by the AI was correlated with visual function assessed by different visual tests, which shows that this instrument can be used with confidence.
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| 3. |
- Baptista, Antonio M. G., et al.
(author)
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Causes of Vision Impairment in Portugal : A hospital based study
- 2015
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In: Investigative Ophthalmology and Visual Science. - 0146-0404 .- 1552-5783. ; 56:7
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Journal article (peer-reviewed)abstract
- Purpose Causes of vision impairment (VI) are influenced by factors such as race or socio-economic circumstances. Because of this collecting national information is important for planning reduction of vision loss. The aim of this study was to determine causes of vision impairment in a population visiting ophthalmology departments in public hospitals in Portugal.Methods This study was designed according with the guidelines of the Vancouver Economic Burden of Vision Loss Group (IOVS, 2010, V51/4/1801). Recommendations are to collect hospital data during 1 year to determine causes of VI. We selected four public hospitals that are expected to have over 120-140K appointments per year. Files are analysed weekly to detect patients with vision impairment. Inclusion criteria are: visual acuity with the current refractive correction equal or less than 0.5 (20/40) in the better-seeing eye and/or a visual field of less than 20 degrees. Patients were selected by trained hospital staff (medics and orthoptists) and inserted in a database. Diagnoses were classified according the ICD9. Data collected included fundamental demographic information, main diagnosis, secondary diagnosis and comorbidities.Results We have now 2462 patients selected that correspond to 4 to 33 weeks of data collection. The number of weeks is variable because we did not start all hospitals simultaneously. From the current number of cases detected, 58% are female, 1.9% are under 20, 8.2% are between 20 and 50 and 89.9% are 50 years or older. The leading causes of vision impairment among these patients are diabetic retinopathy (DR), cataract (C), glaucoma (GC) and age-related macular degeneration (AMD). Using the North American definition of VI the proportions are 26.8% for DR, 25.5% for C, 10.4% for GC and 8.2% for AMD. The remaining causes of VI have percentages below 5% and in total they correspond to approximately 29% of the cases detected.Conclusions Our results show that the most common causes of vision impairment are eye diseases related with systemic conditions and aging of the population. Vision impairment was relatively low under the age of 20 and the causes were mostly inherited diseases. Numbers reported now will be more accurate at the end of the study but they already highlight the importance of targeting conditions such as diabetes.
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| 4. |
- Baptista, António M. G., et al.
(author)
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The macular photostress test in diabetes, glaucoma, and cataract
- 2013
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In: 8th Iberoamerican Optics Meeting and 11th Latin American Meeting on Optics, Lasers, and Applications. - : SPIE - International Society for Optical Engineering.
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Conference paper (peer-reviewed)abstract
- Purpose. The photostress recovery time test (PSRT) has been widely reported as a helpful screening clinical tool. However, the poor standardization of its measurement technique remains to be a limitation among clinicians. The purpose of this study is to apply a recommended clinical technique to measure the PSRT in some of the most commons eye diseases to ascertain whether these diseases affect the PSRT values. Methods. One hundred and one controls and 105 patients, with diagnosed diabetes (without visible signs of diabetic retinopathy), primary open angle glaucoma (POAG) or cataracts underwent photostress testing. The test was performed with a direct ophthalmoscope for illuminating the macula for 30 seconds. Participants belonged to three age classes: A, B and C; and were divided into four groups: control, diabetic, POAG and cataract. The age range for A, B and C classes were respectively 43-54, 55-64 and 65-74 years. The groups were also further compared within each age class. In addition, the influence of age on PSRT was evaluated using the control group. Results. Results demonstrate that PSRT changes with age (p<0.02). In class A, diabetic group had a faster PSRT than control group, (mean ± standard deviation) 20.22±7.51 and 26.14±8.34 seconds. The difference between these groups was statistical significant (t-test, p=0.012). Cataract and POAG groups did not affect the PSRT significantly. Conclusions. The technique used for the Photostress showed that diabetics, younger than 54 years, may have faster PSRT and that, aging delays PSRT
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| 5. |
- Ekker, Merel, et al.
(author)
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Global Outcome Assessment Life-long after stroke in young adults initiative-the GOAL initiative: study protocol and rationale of a multicentre retrospective individual patient data meta-analysis.
- 2019
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In: BMJ open. - : BMJ. - 2044-6055. ; 9:11
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Journal article (peer-reviewed)abstract
- Worldwide, 2 million patients aged 18-50 years suffer a stroke each year, and this number is increasing. Knowledge about global distribution of risk factors and aetiologies, and information about prognosis and optimal secondary prevention in young stroke patients are limited. This limits evidence-based treatment and hampers the provision of appropriate information regarding the causes of stroke, risk factors and prognosis of young stroke patients.The Global Outcome Assessment Life-long after stroke in young adults (GOAL) initiative aims to perform a global individual patient data meta-analysis with existing data from young stroke cohorts worldwide. All patients aged 18-50 years with ischaemic stroke or intracerebral haemorrhage will be included. Outcomes will be the distribution of stroke aetiology and (vascular) risk factors, functional outcome after stroke, risk of recurrent vascular events and death and finally the use of secondary prevention. Subgroup analyses will be made based on age, gender, aetiology, ethnicity and climate of residence.Ethical approval for the GOAL study has already been obtained from the Medical Review Ethics Committee region Arnhem-Nijmegen. Additionally and when necessary, approval will also be obtained from national or local institutional review boards in the participating centres. When needed, a standardised data transfer agreement will be provided for participating centres. We plan dissemination of our results in peer-reviewed international scientific journals and through conference presentations. We expect that the results of this unique study will lead to better understanding of worldwide differences in risk factors, causes and outcome of young stroke patients.
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| 6. |
- Freitas, Cristina, et al.
(author)
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Functional impairment with minimal macular damage in femtosecond laser plasma injury : case report : [ Comprometimento funcional com dano macular mínimo em lesão com plasma de laser de femtosegundo: relato de caso ]
- 2013
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In: Arquivos Brasileiros de Oftalmologia. - 0004-2749 .- 1678-2925. ; 76:5, s. 317-319
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Journal article (peer-reviewed)abstract
- A 26 years old female patient was examined twenty-four hours after observing laser-induced plasma formation in a process of nanoparticle production complaining of bilateral central scotoma. The ophthalmologic evaluation included dilated fundus observation, fluorescein angiography, and optical coherence tomography (OCT). In the first assessment, visual acuity was 20/20 in the right eye and 20/25 in the left eye. Ophthalmologic evaluation revealed colour changes in the macular region of both eyes. Optical coherence tomography showed a central interruption of the photoreceptor layer in both eyes and fluorescein angiography was normal. In subsequent appointments acuity was always 20/20 in both eyes. Abnormal optical coherence tomography findings disappeared in less than 5 months, but subjective complaints of scotoma in the left eye remained. Extra care must be taken in this type of experiment by, for example, reducing the time that the retina is directly exposed to the plasma radiation.
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| 7. |
- Jacob, Mina A, et al.
(author)
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Global Differences in Risk Factors, Etiology, and Outcome of Ischemic Stroke in Young Adults: A Worldwide Meta-analysis: The GOAL-Initiative.
- 2022
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In: Neurology. - 1526-632X. ; 98:6
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Journal article (peer-reviewed)abstract
- There is a worldwide increase in the incidence of stroke in young adults, with major regional and ethnic differences. Advancing knowledge of ethnic and regional variation in causes and outcomes will be beneficial in implementation of regional healthcare services. To study the global distribution of risk factors, causes and 3-month mortality of young ischemic stroke patients, by performing a patient data meta-analysis form different cohorts worldwide.We did a pooled analysis of individual patient data from cohort studies which included consecutive ischemic stroke patients aged 18-50 years. We studied differences in prevalence of risk factors and causes between different ethnic and racial groups, geographic regions and countries with different income levels. We investigated differences in 3-month mortality by mixed-effects multivariable logistic regression.We included 17,663 patients from 32 cohorts in 29 countries. Hypertension and diabetes were most prevalent in Blacks (hypertension, 52.1%; diabetes, 20.7%) and Asians (hypertension 46.1%, diabetes, 20.9%). Large vessel atherosclerosis and small vessel disease were more often cause of stroke in high-income countries (HICs; both p<0.001), whereas ''other determined stroke'' and ''undetermined stroke'' were higher in low and middle-income countries (LMICs; both p<0.001). Patients in LMICs were younger, had less vascular risk factors, and despite this, more often died within 3 months than those from HICs (OR 2.49; 95% CI 1.42-4.36).The ethnoracial and regional differences in risk factors and causes of stroke at young age provide an understanding of ethnic and racial, and regional differences in incidence of ischemic stroke. Our results also visualize the dissimilarities in outcome after stroke in young adults that exist between LMICs and HICs, which should serve as call to action to improve healthcare facilities in LMICs.
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| 8. |
- Macedo, António Filipe, 1976-, et al.
(author)
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An exploratory study of temporal integration in the peripheral retina of myopes
- 2017
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In: Proceedings of SPIE 10453. - : SPIE - International Society for Optical Engineering. - 9781510613843 - 9781510613836
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Conference paper (peer-reviewed)abstract
- The visual system takes time to respond to visual stimuli, neurons need to accumulate information over a time span in order to fire. Visual information perceived by the peripheral retina might be impaired by imperfect peripheral optics leading to myopia development. This study explored the effect of eccentricity, moderate myopia and peripheral refraction in temporal visual integration. Myopes and emmetropes showed similar performance at detecting briefly flashed stimuli in different retinal locations. Our results show evidence that moderate myopes have normal visual integration when refractive errors are corrected with contact lens; however, the tendency to increased temporal integration thresholds observed in myopes deserves further investigation.
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| 9. |
- Macedo, António Filipe, et al.
(author)
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Temporal Processing in the Peripheral Retina
- 2012
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In: Investigative Ophthalmology and Visual Science. - 0146-0404 .- 1552-5783. ; 53:14
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Journal article (peer-reviewed)abstract
- Purpose: There is an increasing number of reports in the literature about the possible influence of the peripheral refraction in myopia development. The aim of this work was to determine whether the peripheral refractive differences lead to changes in visual performance. We used a forced choice procedure to assess the speed and accuracy (visual processing) of people with and without myopia at detecting the direction of a Gabor patch presented at different retinal locations. Methods: Visual processing was measured twice in random order at 6 retinal locations: 10, 20 and 30 degrees eccentricity at the temporal and at the nasal retina. We tested the dominant eye of 8 adults (aged 19 to 33 years) with moderate myopia (spherical equivalent ranging from -4.25 to -2.00 D) and 8 age-matched adults without myopia (spherical equivalent from -0.63 to 0.75 D). Participants’ task was to report via bottom press whether the Gabor patch, with suprathreshold contrast and spatial frequency, was tilted 30º to the right or to the left. The target was preceded by a 50 msec duration cue, exposed for variable periods of 10, 30, 60, 90 and 140 msec, selected in random order, and followed by a noise mask until response was given. For each block, processing time was determined using the method of constant stimuli based in 400 trials per retinal location (80 trials per exposure). Threshold was defined as the exposure time yielding 75% of correct responses; results were analysed using linear mixed models (SPSS, v18). Results: The mean processing time in the group with myopia was 73 msec and in the group without myopia was 66 msec; the difference between groups was not statistically significant (p = 0.087). There was a statistically significant difference between the nasal and temporal retina, mean difference was 13 msec (p = 0.002) with smaller processing time in the nasal retina. Conclusions: For the type of paradigm used in this study, there was no difference in processing time of the peripheral retina between people with and people without myopia. Despite extensive reports in the literature about different refraction patterns in this study we found evidences that this does not translate into functional changes.
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| 10. |
- Macedo, António Filipe, et al.
(author)
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Visual and health outcomes, measured with the activity inventory and the EQ-5D, in visual impairment
- 2017
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In: Acta Ophthalmologica. - : Wiley-Blackwell. - 1755-375X .- 1755-3768. ; 95:8, s. e783-e791
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Journal article (peer-reviewed)abstract
- PurposeGeneric instruments to assess health utilities can be used to express the burden of health problems in widely used indexes. That is in contrast with what can be obtained with condition-specific instruments, outcomes are very specific and difficult to compare across conditions. The purpose of this study was to assess health and visual outcomes and its determinants in patients with visual impairment (VI) using the EQ-5D-3L and the Activity Inventory (AI).MethodsParticipants were recruited in different hospitals during the PCVIP-study. A total of 134 patients with acuity 0.30 logMAR or less in the better eye were interviewed. The AI includes 46 goals split between three objectives: social functioning, recreation and daily living, and was used to measure visual ability. The EQ-5D consists of five questions covering one domain each and was used to provide a measure of health states. Responses to each domain were combined to produce a single individual index.ResultsThe AI and the EQ-5D-3L showed enough discriminatory power between VI levels (p < 0.001), and their results were strongly correlated r(134) = 0.825, (p < 0.001). Explanatory factors for visual ability were level of VI in better eye, age and gender, R2 = 0.43, (p < 0.001). Explanatory factors for the EQ-5D-3L were level of VI in the better eye, comorbidities and gender, R2 = 0.36, (p < 0.001).ConclusionOur results showed that the EQ-5D-3L is useful when characterizing the burden of VI and to compute, when necessary, quality-adjusted-life-years (QALY) changes due to VI. However, it is important to consider that the EQ-5D-3L uses a coarse response scale, assesses a limited spectrum of domains and is influenced by comorbidities. This might limit its responsiveness to small changes in visual ability.
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