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Introducción: El tumor phyllodes (TP) es un tumor raro de la mama, representa menos del 1% de todas las neoplasias de la mama (1) y el 2 a 3 % de los tumores fibroepiteliales (7). Esta neoplasia se clasifica en: TP Benigno, TP Borderline y TP Maligno (Norris y Taylor-OMS) (9). Objetivo: Realizar una revisión acerca del diagnóstico y tratamiento del tumor phyllodes. Desarrollo: Los TP son neoplasias fibroepiteliales qué de acuerdo a la celularidad estromal, atipia nuclear, tasa mitótica, elementos heterólogos son clasificados como: benignos, borderline y malignos (1). La máxima incidencia se da entre los 35-55 años. El diagnóstico por imágenes se basa en el uso de mamografía, ecografía, resonancia magnética y biopsia core radioguiada. El óptimo manejo quirúrgico constituye la herramienta fundamental en TP. Existe controversia acerca del uso de tratamiento adyuvante con radioterapia y quimioterapia. Conclusiones: TP es una neoplasia benigna de la mama, la cirugía es el tratamiento de elección. El borde libre mayor de 1 cm recomendado por la NCCN es predictivo para un menor porcentaje de recurrencia local. Los tratamientos complementarios con radioterapia y quimioterapia son controversiales.

Acknowledgements: We thank Geraldine Fitzgerald for support throughout the set-up of the project and Federica Pozzi and Gülnur Karapür for assistance with data coding. Authors’ note: This research was the result of a partnership between academics and the BBC Radio 4, resulting in four radio programmes and a large scale survey entitled ‘The BBC Loneliness Experiment’, as well as a special edition of Health Check (on BBC World Service). Open research statement: As part of IARR’s encouragement of open research practices, the author(s) have provided the following information: This research was not pre-registered. The data used in the research are can be publicly posted. The data can be obtained at: https://osf.io/hv7t2/?view_only=3d8d00e5e5844471936f959c5ed43be4 or by emailing: m.barreto@exeter.ac.uk. The materials used in the research can be publicly posted. The materials can be obtained at: https://osf.io/hv7t2/?view_only=3d8d00e5e5844471936f959c5ed43be4 or by emailing: m.barreto@exeter.ac.uk. Copyright © The Author(s) 2022. The current study uses data from The British Broadcasting Corporation Loneliness Experiment to explore the social stigma of loneliness and how it varies by gender, age and cultural individualism. We examined stigmatizing judgements of people who are lonely (impressions of those who feel lonely and attributions for loneliness), perceived stigma in the community and self-stigma (shame for being lonely and inclination to conceal loneliness), while controlling for participants’ own feelings of loneliness. The scores on most measures fell near the mid-point of the scales, but stigmatizing perceptions depended on the measure of stigmatization that was used and on age, gender and country-level individualism. Multilevel analyses revealed that men had more stigmatizing perceptions, more perceived community stigma, but less self-stigma than women; young people had higher scores than older people on all indicators except for internal versus external attributions and people living in collectivist countries perceived loneliness as more controllable and perceived more stigma in the community than people living in individualistic countries. Finally, young men living in individualistic countries made the most internal (vs. external) attributions for loneliness. We discuss the implications of these findings for understandings of loneliness stigma and interventions to address loneliness. The data collection was funded by the Wellcome Trust [Ref: 209625/Z/ 17/Z], who did not play any role in the study design, analysis, or interpretation of the data. https://osf.io/hv7t2

Background/objectives This study aims to describe the grading methods and baseline characteristics for UK Biobank (UKBB) participants who underwent retinal imaging in 2009–2010, and to characterise individuals with retinal features suggestive of age-related macular degeneration (AMD), glaucoma and retinopathy. Methods Non-mydriatic colour fundus photographs and macular optical coherence tomography (OCT) scans were manually graded by Central Administrative Research Facility certified graders and quality assured by clinicians of the Network of Ophthalmic Reading Centres UK. Captured retinal features included those associated with AMD (≥1 drusen, pigmentary changes, geographic atrophy or exudative AMD; either imaging modality), glaucoma (≥0.7 cup-disc ratio, ≥0.2 cup-disc ratio difference between eyes, other abnormal disc features; photographs only) and retinopathy (characteristic features of diabetic retinopathy with or without microaneurysms; either imaging modality). Suspected cases of these conditions were characterised with reference to diagnostic records, physical and biochemical measurements. Results Among 68,514 UKBB participants who underwent retinal imaging, the mean age was 57.3 years (standard deviation 8.2), 45.7% were men and 90.6% were of White ethnicity. A total of 64,367 participants had gradable colour fundus photographs and 68,281 had gradable OCT scans in at least one eye. Retinal features suggestive of AMD and glaucoma were identified in 15,176 and 2184 participants, of whom 125 (0.8%) and 188 (8.6%), respectively, had a recorded diagnosis. Of 264 participants identified to have retinopathy with microaneurysms, 251 (95.1%) had either diabetes or hypertension. Conclusions This dataset represents a valuable addition to what is currently available in UKBB, providing important insights to both ocular and systemic health.

Additional file 3.. Original Gel Images.

Additional file 1: Fig. S1 to 8. Fig S1 - Sorting strategy for hematopoietic populations profiled in this study. Fig S2 - Progenitor populations possess unique expression profiles. Fig S3 - H3K27me3 promoter density signatures are conserved across progenitor populations. Fig S4 - H3K27me3 LOCKs lost during myeloid differentiation are associated with LADs in CD34+ progenitor cells. Fig S5 - BMI1 loss reduces genome-wide levels of H3K27me3. Fig S6 - Enhancers dynamics in erythroid precursor, monocyte and differentiated lymphoid cells. Fig S7 - Lineage-specific enhancers are marked by H3K27ac in hematopoietic progenitor subsets. Fig S8 - Lineage specific enhancers harbor lineage specific TF binding site are marked with H3K27ac in progenitor population.

Contains fulltext : 200131.pdf (Publisher’s version ) (Open Access) Primary open angle glaucoma (POAG) is a complex disease with a major genetic contribution. Its prevalence varies greatly among ethnic groups, and is up to five times more frequent in black African populations compared to Europeans. So far, worldwide efforts to elucidate the genetic complexity of POAG in African populations has been limited. We conducted a genome-wide association study in 1113 POAG cases and 1826 controls from Tanzanian, South African and African American study samples. Apart from confirming evidence of association at TXNRD2 (rs16984299; OR[T] 1.20; P = 0.003), we found that a genetic risk score combining the effects of the 15 previously reported POAG loci was significantly associated with POAG in our samples (OR 1.56; 95% CI 1.26-1.93; P = 4.79 x 10(-5)). By genome-wide association testing we identified a novel candidate locus, rs141186647, harboring EXOC4 (OR[A] 0.48; P = 3.75 x 10(-8)), a gene transcribing a component of the exocyst complex involved in vesicle transport. The low frequency and high degree of genetic heterogeneity at this region hampered validation of this finding in predominantly West-African replication sets. Our results suggest that established genetic risk factors play a role in African POAG, however, they do not explain the higher disease load. The high heterogeneity within Africans remains a challenge to identify the genetic commonalities for POAG in this ethnicity, and demands studies of extremely large size.

© 2019, The Author(s). A genetic contribution to refractive error has been confirmed by the discovery of more than 150 associated variants in genome-wide association studies (GWAS). Environmental factors such as education and time outdoors also demonstrate strong associations. Currently however, the extent of gene-environment or gene-gene interactions in myopia is unknown. We tested the hypothesis that refractive error-associated variants exhibit effect size heterogeneity, a hallmark feature of genetic interactions. Of 146 variants tested, evidence of non-uniform, non-linear effects were observed for 66 (45%) at Bonferroni-corrected significance (P < 1.1 × 10−4) and 128 (88%) at nominal significance (P < 0.05). LAMA2 variant rs12193446, for example, had an effect size varying from −0.20 diopters (95% CI −0.18 to −0.23) to −0.89 diopters (95% CI −0.71 to −1.07) in different individuals. SNP effects were strongest at the phenotype extremes and weaker in emmetropes. A parsimonious explanation for these findings is that gene-environment or gene-gene interactions in myopia are pervasive.

TOPIC: To estimate the prevalence of nonrefractive visual impairment and blindness in European persons 55 years of age and older. CLINICAL RELEVANCE: Few visual impairment and blindness prevalence estimates are available for the European population. In addition, many of the data collected in European population-based studies currently are unpublished and have not been included in previous estimates. METHODS: Fourteen European population-based studies participating in the European Eye Epidemiology Consortium (n = 70 723) were included. Each study provided nonrefractive visual impairment and blindness prevalence estimates stratified by age (10-year strata) and gender. Nonrefractive visual impairment and blindness were defined as best-corrected visual acuity worse than 20/60 and 20/400 in the better eye, respectively. Using random effects meta-analysis, prevalence rates were estimated according to age, gender, geographical area, and period (1991-2006 and 2007-2012). Because no data were available for Central and Eastern Europe, population projections for numbers of affected people were estimated using Eurostat population estimates for European high-income countries in 2000 and 2010. RESULTS: The age-standardized prevalence of nonrefractive visual impairment in people 55 years of age or older decreased from 2.22% (95% confidence interval [CI], 1.34-3.10) from 1991 through 2006 to 0.92% (95% CI, 0.42-1.42) from 2007 through 2012. It strongly increased with age in both periods (up to 15.69% and 4.39% in participants 85 years of age or older from 1991 through 2006 and from 2007 through 2012, respectively). Age-standardized prevalence of visual impairment tended to be higher in women than men from 1991 through 2006 (2.67% vs. 1.88%), but not from 2007 through 2012 (0.87% vs. 0.88%). No differences were observed between northern, western, and southern regions of Europe. The projected numbers of affected older inhabitants in European high-income countries decreased from 2.5 million affected individuals in 2000 to 1.2 million in 2010. Of those, 584 000 were blind in 2000, in comparison with 170 000 who were blind in 2010. CONCLUSIONS: Despite the increase in the European older population, our study indicated that the number of visually impaired people has decreased in European high-income countries in the last 20 years. This may be the result of major improvements in eye care and prevention, the decreasing prevalence of eye diseases, or both.