CIBERER : Spanish national network for research on rare diseases: A highly productive collaborative initiative

Altres ajuts: Instituto de Salud Carlos III (ISCIII); Ministerio de Ciencia e Innovación.CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the National Health System. CIBERER, the thematic area of CIBER focused on rare diseases (RDs) currently consists of 75 research groups belonging to universities, research centers, and hospitals of the entire country. CIBERER's mission is to be a center prioritizing and favoring collaboration and cooperation between biomedical and clinical research groups, with special emphasis on the aspects of genetic, molecular, biochemical, and cellular research of RDs. This research is the basis for providing new tools for the diagnosis and therapy of low-prevalence diseases, in line with the International Rare Diseases Research Consortium (IRDiRC) objectives, thus favoring translational research between the scientific environment of the laboratory and the clinical setting of health centers. In this article, we intend to review CIBERER's 15-year journey and summarize the main results obtained in terms of internationalization, scientific production, contributions toward the discovery of new therapies and novel genes associated to diseases, cooperation with patients' associations and many other topics related to RD research

CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

13 páginas,1 figura, 3 tablas, 1 apéndice. Se extraen los autores pertenecientes a The CIBERER network que trabajan en Centros del CSIC del Appendix ACIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the National Health System. CIBERER, the thematic area of CIBER focused on rare diseases (RDs) currently consists of 75 research groups belonging to universities, research centers, and hospitals of the entire country. CIBERER's mission is to be a center prioritizing and favoring collaboration and cooperation between biomedical and clinical research groups, with special emphasis on the aspects of genetic, molecular, biochemical, and cellular research of RDs. This research is the basis for providing new tools for the diagnosis and therapy of low-prevalence diseases, in line with the International Rare Diseases Research Consortium (IRDiRC) objectives, thus favoring translational research between the scientific environment of the laboratory and the clinical setting of health centers. In this article, we intend to review CIBERER's 15-year journey and summarize the main results obtained in terms of internationalization, scientific production, contributions toward the discovery of new therapies and novel genes associated to diseases, cooperation with patients' associations and many other topics related to RD research.This study has been funded by Instituto de Salud Carlos III (ISCIII) and Spanish Ministry of Science and InnovationPeer reviewe

The IDENTIFY study: the investigation and detection of urological neoplasia in patients referred with suspected urinary tract cancer - a multicentre observational study

Objective To evaluate the contemporary prevalence of urinary tract cancer (bladder cancer, upper tract urothelial cancer [UTUC] and renal cancer) in patients referred to secondary care with haematuria, adjusted for established patient risk markers and geographical variation. Patients and Methods This was an international multicentre prospective observational study. We included patients aged ≥16 years, referred to secondary care with suspected urinary tract cancer. Patients with a known or previous urological malignancy were excluded. We estimated the prevalence of bladder cancer, UTUC, renal cancer and prostate cancer; stratified by age, type of haematuria, sex, and smoking. We used a multivariable mixed-effects logistic regression to adjust cancer prevalence for age, type of haematuria, sex, smoking, hospitals, and countries. Results Of the 11 059 patients assessed for eligibility, 10 896 were included from 110 hospitals across 26 countries. The overall adjusted cancer prevalence (n = 2257) was 28.2% (95% confidence interval [CI] 22.3–34.1), bladder cancer (n = 1951) 24.7% (95% CI 19.1–30.2), UTUC (n = 128) 1.14% (95% CI 0.77–1.52), renal cancer (n = 107) 1.05% (95% CI 0.80–1.29), and prostate cancer (n = 124) 1.75% (95% CI 1.32–2.18). The odds ratios for patient risk markers in the model for all cancers were: age 1.04 (95% CI 1.03–1.05; P < 0.001), visible haematuria 3.47 (95% CI 2.90–4.15; P < 0.001), male sex 1.30 (95% CI 1.14–1.50; P < 0.001), and smoking 2.70 (95% CI 2.30–3.18; P < 0.001). Conclusions A better understanding of cancer prevalence across an international population is required to inform clinical guidelines. We are the first to report urinary tract cancer prevalence across an international population in patients referred to secondary care, adjusted for patient risk markers and geographical variation. Bladder cancer was the most prevalent disease. Visible haematuria was the strongest predictor for urinary tract cancer

Contact Allergy to Shellac. Retrospective Cross-Sectional Study With Data From the Spanish Registry of Research in Contact Dermatitis and Cutaneous Allergy (REIDAC)

Introduction: Shellac is a known allergen present mainly in cosmetics used on the eyelids and lips, although new sources of exposure have recently been described. Our objective was to assess the use of shellac as a contact allergen in Spain and the clinical profile of patients allergic to shellac. Methods: This retrospective cross-sectional study included patients patch tested for shellac between 2018 and 2021 from the Spanish Registry of Contact Dermatitis and Cutaneous Allergy (REIDAC). Results: A total of 980 patients were patch tested for shellac (20% in ethanol), and 37 (3.77%, 95% confidence interval [CI], 2.58–3.97%) showed positive results. Most of these patients were tested for shellac due to a suspicion of cosmetic contact dermatitis. Seven patients with present relevance were found, five with relation to cosmetics, and the other two with an occupational background of food handling. The reaction index for shellac was 0.51 and the positivity ratio was 67.56% (95% CI, 52.48–82.65%). Conclusions: Shellac appears to be a prevalent allergen in patients with suspected contact dermatitis related with cosmetics or foodstuff. However, further studies are needed to validate its use in other patients. Resumen: Introducción: El shellac es un alérgeno conocido por su presencia en cosméticos para labios y párpados, aunque en los últimos años se han descrito nuevas fuentes de exposición. El objetivo de nuestro trabajo fue evaluar cómo se está usando el shellac, como alérgeno de contacto en España, y las características clínicas de los pacientes alérgicos al shellac. Métodos: Se realizó un estudio retrospectivo transversal con los pacientes incluidos en el Registro Español de Dermatitis de Contacto y Alergia Cutánea en los que se realizaron pruebas epicutáneas con shellac desde 2018 a 2021. Resultados: El shellac (20% en etanol) fue usado en 980 pacientes, con resultados positivos en 37 de ellos (3,77%; intervalo de confianza [IC] del 95%: 2,58-3,97%). La mayoría de estos pacientes realizaron las pruebas epicutáneas por una sospecha de dermatitis de contacto por cosméticos. Se encontraron 7 pacientes con una relevancia presente, 5 de ellos en relación con el uso de cosméticos, y los otros 2 fueron dermatitis de contacto ocupacionales en el contexto de la manipulación de alimentos. El índice de reacción para el shellac fue del 0,51% y la ratio de positividad del 67,56% (IC 95%: 52,48-82,65%). Conclusiones: El shellac parece un alérgeno frecuente en los pacientes con sospecha de dermatitis de contacto por cosméticos o alimentos. Sin embargo, se necesitan más estudios para validar su uso en otros pacientes

[Artículo traducido] Alergia de contacto a shellac. Estudio transversal retrospectivo con datos del Registro Español de Investigación en Dermatitis de Contacto y Alergia Cutánea (REIDAC)

Resumen: Introducción: El shellac es un alérgeno conocido por su presencia en cosméticos para labios y párpados, aunque en los últimos años se han descrito nuevas fuentes de exposición. El objetivo de nuestro trabajo fue evaluar cómo se está usando el shellac, como alérgeno de contacto en España, y las características clínicas de los pacientes alérgicos al shellac. Métodos: Se realizó un estudio retrospectivo transversal con los pacientes incluidos en el Registro Español de Dermatitis de Contacto y Alergia Cutánea en los que se realizaron pruebas epicutáneas con shellac desde 2018 a 2021. Resultados: El shellac (20% en etanol) fue usado en 980 pacientes, con resultados positivos en 37 de ellos (3,77%; intervalo de confianza [IC] del 95%: 2,58-3,97%). La mayoría de estos pacientes realizaron las pruebas epicutáneas por una sospecha de dermatitis de contacto por cosméticos. Se encontraron 7 pacientes con una relevancia presente, 5 de ellos en relación con el uso de cosméticos, y los otros 2 fueron dermatitis de contacto ocupacionales en el contexto de la manipulación de alimentos. El índice de reacción para el shellac fue del 0,51% y la ratio de positividad del 67,56% (IC 95%: 52,48-82,65%). Conclusiones: El shellac parece un alérgeno frecuente en los pacientes con sospecha de dermatitis de contacto por cosméticos o alimentos. Sin embargo, se necesitan más estudios para validar su uso en otros pacientes. Abstract: Introduction: Shellac is a known allergen present mainly in cosmetics used on the eyelids and lips, although new sources of exposure have recently been described. Our objective was to assess the use of shellac as a contact allergen in Spain and the clinical profile of patients allergic to shellac. Methods: This retrospective cross-sectional study included patients patch tested for shellac between 2018 and 2021 from the Spanish Registry of Contact Dermatitis and Cutaneous Allergy (REIDAC). Results: A total of 980 patients were patch tested for shellac (20% in ethanol), and 37 (3.77%, 95% confidence interval [CI], 2.58–3.97%) showed positive results. Most of these patients were tested for shellac due to a suspicion of cosmetic contact dermatitis. Seven patients with present relevance were found, five with relation to cosmetics, and the other two with an occupational background of food handling. The reaction index for shellac was 0.51 and the positivity ratio was 67.56% (95% CI, 52.48–82.65%). Conclusions: Shellac appears to be a prevalent allergen in patients with suspected contact dermatitis related with cosmetics or foodstuff. However, further studies are needed to validate its use in other patients

Supplementary Material for: Disease Remission in Children and Adolescents with Intermediate Uveitis: A Survival Analysis

<b><i>Purpose:</i></b> To report the incidence rate (IR) of remission in pediatric noninfectious intermediate uveitis (IU). <b><i>Methods:</i></b> Longitudinal retrospective cohort study, including 19 patients (32 eyes) between 1985 and 2014, followed-up until loss or January 2016. Remission was defined following the Standardization of Uveitis Nomenclature workshop criteria, prolonged remission as a remission spanning 12 months and until the end of follow-up, and relapse as recurrence of inflammatory activity in an eye in remission. <b><i>Results:</i></b> Median follow-up time was 6.3 years. IRs (95% confidence interval) for remission, relapse, and prolonged remission were 18.6 (13.1–26.5), 32.3 (20.6–50.7), and 6.7 (3.8–11.9) episodes per 100 eye-years, respectively. 48% of eyes relapsed in the first year following remission. 25 and 50% of eyes achieved prolonged remission after 5 and 10 years of follow-up, respectively. <b><i>Conclusions:</i></b> Inflammatory relapses may be frequent in noninfectious IU affecting children and adolescents, appearing early after remission. Also, prolonged remission seems infrequent, being achieved late during follow-up

Corneal Segmentation Analysis Increases Glaucoma Diagnostic Ability of Optic Nerve Head Examination, Heidelberg Retina Tomograph’s Moorfield’s Regression Analysis, and Glaucoma Probability Score

Purpose. To study whether a corneal thickness segmentation model, consisting in a central circular zone of 1 mm radius centered at the corneal apex (zone I) and five concentric rings of 1 mm width (moving outwards: zones II to VI), could boost the diagnostic accuracy of Heidelberg Retina Tomograph’s (HRT’s) MRA and GPS. Material and Methods. Cross-sectional study. 121 healthy volunteers and 125 patients with primary open-angle glaucoma. Six binary multivariate logistic regression models were constructed (MOD-A1, MOD-A2, MOD-B1, MOD-B2, MOD-C1, and MOD-C2). The dependent variable was the presence of glaucoma. In MOD-A1, the predictor was the result (presence of glaucoma) of the analysis of the stereophotography of the optic nerve head (ONH). In MOD-B1 and MOD-C1, the predictor was the result of the MRA and GPS, respectively. In MOD-B2 and MOD-C2, the predictors were the same along with corneal variables: central, overall, and zones I to VI thicknesses. This scheme was reproduced for model MOD-A2 (stereophotography along with corneal variables). Models were compared using the area under the receiver operator characteristic curve (AUC). Results. MOD-A1-AUC: 0.771; MOD-A2-AUC: 0.88; MOD-B1-AUC: 0.736; MOD-B2-AUC: 0.845; MOD-C1-AUC: 0.712; MOD-C2-AUC: 0.838. Conclusion. Corneal thickness variables enhance ONH assessment and HRT’s MRA and GPS diagnostic capacity

Sex-gender disparities in nonagenarians with acute coronary syndrome

Background: Acute coronary syndrome (ACS) remains one of the leading causes of mortality for women, increasing with age. There is an unmet need regarding this condition in a fast-growing and predominantly female population, such as nonagenarians. Hypothesis: Our aim is to compare sex-based differences in ACS management and long-term clinical outcomes between women and men in a cohort of nonagenarians. Methods: We included consecutive nonagenarian patients with ACS admitted at four academic centers between 2005 and 2018. The study was approved by the Ethics Committee of each center. Results: A total of 680 nonagenarians were included (59% females). Of them, 373 (55%) patients presented with non-ST-segment elevation ACS and 307 (45%) with ST-segment elevation myocardial infarction (STEMI). Men presented a higher disease burden compared to women. Conversely, women were frailer with higher disability and severe cognitive impairment. In the STEMI group, women were less likely than men to undergo percutaneous coronary intervention (PCI) (60% vs. 45%; p = .01). Overall mortality rates were similar in both groups but PCI survival benefit at 1-year was greater in women compared to their male counterparts (82% vs. 68%; p = .008), persisting after sensitivity analyses using propensity-score matching (80% vs. 64%; p = .03). Conclusion: Sex-gender disparities have been observed in nonagenarians. Despite receiving less often invasive approaches, women showed better clinical outcomes. Our finding may help increase awareness and reduce the current gender gap in ACS management at any age