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1. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Author

Perea-Romero, I., Gordo, G., Iancu, I.F., Del Pozo-Valero, M., Almoguera, B., Blanco-Kelly, F., Carreño, E., Jimenez-Rolando, B., Lopez-Rodriguez, R., Lorda-Sanchez, I., Martin-Merida, I., Pérez de Ayala, L., Riveiro-Alvarez, R., Rodriguez-Pinilla, E., Tahsin-Swafiri, S., Trujillo-Tiebas, M.J., Bustamante-Aragones, A., Cardero-Merlo, R., Fernandez-Sanchez, R., Gallego-Merlo, J., Garcia-Vara, I., Gimenez-Pardo, A., Horcajada-Burgos, L., Infantes-Barbero, F., Lantero, E., Lopez-Martinez, M.A., Martinez-Ramas, A., Ondo, L., Rodriguez de Alba, M., Sanchez-Jimeno, C., Velez-Monsalve, C., Villaverde, C., Zurita, O., Aguilera-Garcia, D., Aguirre-Lamban, J., Arteche, A., Cantalapiedra, D., Fernandez-San Jose, P., Galbis-Martinez, L., Garcia-Hoyos, M., Lombardia, C., Lopez-Molina, M.I., Perez-Carro, R., Da Silva, L.R.J., Ramos, C., Sanchez-Alcudia, R., Sanchez-Navarro, I., Tatu, S.D., Vallespin, E., Aller, E., Bernal, S., Gamundi, M.J., Garcia-Garcia, G., Hernan, I., Jaijo, T., Antiñolo, G., Baiget, M., Carballo, M., Millan, J.M., Valverde, D., Allikmets, R., Banfi, S., Cremers, F.P.M., Collin, R.W.J., De Baere, E., Hakonarson, H., Kohl, S., Rivolta, C., Sharon, D., Alonso-Cerezo, M.C., Ballesta-Martinez, M.J., Beltran, S., Benito Lopez, C., Català-Mora, J., Catalli, C., Cotarelo-Perez, C., Fernandez-Burriel, M., Fontalba-Romero, A., Galán-Gómez, E., Garcia-Barcina, M., Garcia-Cruz, L.M., Gener, B., Gil-Fournier, B., Govea, N., Guillen-Navarro, E., Hernando Acero, I., Irigoyen, C., Izquierdo-Álvarez, S., Llano-Rivas, I., López-Ariztegui, M.A., Lopez-Gonzalez, V., Lopez-Grondona, F., Martorell, L., Mendez-Perez, P., Moreno-Igoa, M., Oancea-Ionescu, R., Palau-Martinez, F., Perez de Nanclares, G., Ramos-Fuentes, F.J., Rodriguez-Lopez, R., Rodriguez-Pedreira, M., Rodriguez-Peña, L., Rodriguez-Sanchez, B., Rosell, J., Rosello, N., Saez-Villaverde, R., Santana, A., Valenzuela-Palafoll, I., Villota-Deleu, E., Garcia-Sandoval, B., Minguez, P., Avila-Fernandez, A., Corton, M., Ayuso, C., Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo (España), Centro de Investigación Biomédica en Red Enfermedades Raras (España), Comunidad de Madrid, European Commission, ONCE, Fundación Ramón Areces, Fundación Conchita Rábago de Jiménez Díaz, UAM. Departamento de Medicina, Perea-Romero, I., Gordo, G., Iancu, I. F., Del Pozo-Valero, M., Almoguera, B., Blanco-Kelly, F., Carreno, E., Jimenez-Rolando, B., Lopez-Rodriguez, R., Lorda-Sanchez, I., Martin-Merida, I., Perez de Ayala, L., Riveiro-Alvarez, R., Rodriguez-Pinilla, E., Tahsin-Swafiri, S., Trujillo-Tiebas, M. J., Bustamante-Aragones, A., Cardero-Merlo, R., Fernandez-Sanchez, R., Gallego-Merlo, J., Garcia-Vara, I., Gimenez-Pardo, A., Horcajada-Burgos, L., Infantes-Barbero, F., Lantero, E., Lopez-Martinez, M. A., Martinez-Ramas, A., Ondo, L., Rodriguez de Alba, M., Sanchez-Jimeno, C., Velez-Monsalve, C., Villaverde, C., Zurita, O., Aguilera-Garcia, D., Aguirre-Lamban, J., Arteche, A., Cantalapiedra, D., Fernandez-San Jose, P., Galbis-Martinez, L., Garcia-Hoyos, M., Lombardia, C., Lopez-Molina, M. I., Perez-Carro, R., Da Silva, L. R. J., Ramos, C., Sanchez-Alcudia, R., Sanchez-Navarro, I., Tatu, S. D., Vallespin, E., Aller, E., Bernal, S., Gamundi, M. J., Garcia-Garcia, G., Hernan, I., Jaijo, T., Antinolo, G., Baiget, M., Carballo, M., Millan, J. M., Valverde, D., Allikmets, R., Banfi, S., Cremers, F. P. M., Collin, R. W. J., De Baere, E., Hakonarson, H., Kohl, S., Rivolta, C., Sharon, D., Alonso-Cerezo, M. C., Ballesta-Martinez, M. J., Beltran, S., Benito Lopez, C., Catala-Mora, J., Catalli, C., Cotarelo-Perez, C., Fernandez-Burriel, M., Fontalba-Romero, A., Galan-Gomez, E., Garcia-Barcina, M., Garcia-Cruz, L. M., Gener, B., Gil-Fournier, B., Govea, N., Guillen-Navarro, E., Hernando Acero, I., Irigoyen, C., Izquierdo-Alvarez, S., Llano-Rivas, I., Lopez-Ariztegui, M. A., Lopez-Gonzalez, V., Lopez-Grondona, F., Martorell, L., Mendez-Perez, P., Moreno-Igoa, M., Oancea-Ionescu, R., Palau-Martinez, F., Perez de Nanclares, G., Ramos-Fuentes, F. J., Rodriguez-Lopez, R., Rodriguez-Pedreira, M., Rodriguez-Pena, L., Rodriguez-Sanchez, B., Rosell, J., Rosello, N., Saez-Villaverde, R., Santana, A., Valenzuela-Palafoll, I., Villota-Deleu, E., Garcia-Sandoval, B., Minguez, P., Avila-Fernandez, A., Corton, M., and Ayuso, C.

Subjects
Male, 0301 basic medicine, Peripherins, ABCA4, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Cohort Studies, 0302 clinical medicine, Epidemiology, Genetics research, Prevalence, Genetics, Extracellular Matrix Proteins, Multidisciplinary, medicine.diagnostic_test, biology, Molecular medicine, pedigree, genetic screening, Middle Aged, Phenotype, Myosin VIIa, Cohort, Medicine, Female, Adult, medicine.medical_specialty, MYO7A, Medicina, Science, Article, 03 medical and health sciences, retinitis pigmentosa, Retinal Dystrophies, Retinitis pigmentosa, medicine, Humans, Genetic Testing, Clinical genetics, Eye Proteins, Author Correction, Gene, Aged, Retrospective Studies, Genetic testing, Hereditary eye disease, DNA, medicine.disease, Cross-Sectional Studies, 030104 developmental biology, retina dystrophy, Spain, 030221 ophthalmology & optometry, biology.protein, ATP-Binding Cassette Transporters, mutation
Abstract

ESRETNET Study Group, The ERDC Study Group, The Associated Clinical Study Group., Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landscape of IRD in the largest cohort of Spanish patients reported to date. A retrospective hospital-based cross-sectional study was carried out on 6089 IRD affected individuals (from 4403 unrelated families), referred for genetic testing from all the Spanish autonomous communities. Clinical, demographic and familiar data were collected from each patient, including family pedigree, age of appearance of visual symptoms, presence of any systemic findings and geographical origin. Genetic studies were performed to the 3951 families with available DNA using different molecular techniques. Overall, 53.2% (2100/3951) of the studied families were genetically characterized, and 1549 different likely causative variants in 142 genes were identified. The most common phenotype encountered is retinitis pigmentosa (RP) (55.6% of families, 2447/4403). The most recurrently mutated genes were PRPH2, ABCA4 and RS1 in autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) NON-RP cases, respectively; RHO, USH2A and RPGR in AD, AR and XL for non-syndromic RP; and USH2A and MYO7A in syndromic IRD. Pathogenic variants c.3386G > T (p.Arg1129Leu) in ABCA4 and c.2276G > T (p.Cys759Phe) in USH2A were the most frequent variants identified. Our study provides the general landscape for IRD in Spain, reporting the largest cohort ever presented. Our results have important implications for genetic diagnosis, counselling and new therapeutic strategies to both the Spanish population and other related populations., This work was supported by the Instituto de Salud Carlos III (ISCIII) of the Spanish Ministry of Health (FIS; PI16/00425 and PI19/00321), Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER, 06/07/0036), IIS-FJD BioBank (PT13/0010/0012), Comunidad de Madrid (CAM, RAREGenomics Project, B2017/BMD-3721), European Regional Development Fund (FEDER), the Organización Nacional de Ciegos Españoles (ONCE), Fundación Ramón Areces, Fundación Conchita Rábago and the University Chair UAM-IIS-FJD of Genomic Medicine. Irene Perea-Romero is supported by a PhD fellowship from the predoctoral Program from ISCIII (FI17/00192). Ionut F. Iancu is supported by a grant from the Comunidad de Madrid (CAM, PEJ-2017-AI/BMD7256). Marta del Pozo-Valero is supported by a PhD grant from the Fundación Conchita Rábago. Berta Almoguera is supported by a Juan Rodes program from ISCIII (JR17/00020). Pablo Minguez is supported by a Miguel Servet program from ISCIII (CP16/00116). Marta Corton is supported by a Miguel Servet program from ISCIII (CPII17/00006).

Published
2021

2. Relationship Between Arterial Access and Outcomes in ST‐Elevation Myocardial Infarction With a Pharmacoinvasive Versus Primary Percutaneous Coronary Intervention Strategy: Insights From the STrategic Reperfusion Early After Myocardial Infarction (STREAM) Study

Author

Shavadia, Jay, Welsh, Robert, Gershlick, Anthony, Zheng, Yinggan, Huber, Kurt, Halvorsen, Sigrun, Steg, Phillipe G., Van de Werf, Frans, Armstrong, Paul W., Kaff, A., Malzer, R., Sebald, D., Glogar, D., Gyöngyösi, M., Weidinger, F., Weber, H., Gaul, G., Chmelizek, F., Seidl, S., Pichler, M., Pretsch, I., Vergion, M., Herssens, M., Van Haesendonck, C., Saraiva, J. F K, Sparenberg, A. L F, Souza, J. A., Moraes, J. B M, Sant'anna, F. M., Tarkieltaub, E., Hansen, J. R., Oliveira, E. M., Leonhard, O., Cantor, W., Senaratne, M., Aptecar, E., Asseman, P., Belle, L., Belliard, O., Berland, J., Berthier, A., Besnard, C., Bonneau, A., Bonnefoy, E., Brami, M., Canu, G., Capellier, G., Cattan, S., Champagnac, D., Chapon, P., Cheval, B., Claudel, J., Cohen Tenoudji, P., Coste, P., Debierre, V., Domergue, R., Echahed, K., El Khoury, C., Ferrari, E., Garrot, P., Henry, P., Jardel, B., Jilwan, R., Julie, V., Ketelers, R., Lapostolle, F., Le Tarnec, J., Livarek, B., Mann, Y., Marchand, X., Pajot, F., Perret, T., Petit, P., Probst, V., Ricard Hibon, A., Robin, C., Salama, A., Salengro, E., Savary, D., Schiele, F., Soulat, L., Tabone, X., Taboulet, P., Thicoïpe, M., Torres, J., Tron, C., Vanzetto, G., Villain-Coquet, L., Piper, S., Mochmann, H. C., Nibbe, L., Schniedermeier, U., Heuer, H., Marx, F., Schöls, W., Lepper, W., Grahl, R., Muth, G., Lappas, G., Mantas, I., Skoumbourdis, E., Dilanas, C., Kaprinis, I., Vogiatzis, I., Zarifis, I., Spyromitros, G., Konstantinides, S., Symeonides, D., Rossi, G. P., Bermano, F., Ferlito, S., Paolini, P., Valagussa, L., Della Rovere, F., Miccoli, F., Chiti, M., Vergoni, W., Comeglio, M., Percoco, G., Valgimigli, M., Berget, K., Skjetne, O., Schartum-Hansen, H., Andersen, K., Rolstad, O. J., Aguirre Zurita, O. N., Castillo León, R. P., Villar Quiroz, A. C., Glowka, A., Kulus, P., Kalinina, S., Bushuev, A., Barbarash, O., Tarasov, N., Fomin, I., Makarov, E., Markov, V., Danilenko, A., Volkova, E., Frolenkov, A., Burova, N., Yakovlev, A., Elchinskaya, L., Boldueva, S., Klein, G., Kolosova, I., Ovcharenko, E., Fairushin, R., Andjelic, S., Vukcevic, V., Neskovic, A., Krotin, M., Rajkovic, T., Pavlovic, M., Perunicic, J., Kovacevic, S., Petrovic, V., Mitov, V., Ruiz, A., García-Alcántara, A., Martínez, M., Díaz, J., Paz, M. A., Manzano, F. L., Martín, C., Macaya, C., Corral, E., Fernández, J. J., Martín, F., García, R., Siriwardena, N., Rawstorne, O., Baumbach, A., Manoharan, G., Menown, I., McHechan, S., and Morgan, D.

Subjects
Male, Epidemiology, medicine.medical_treatment, 030204 cardiovascular system & hematology, Coronary Angiography, 0302 clinical medicine, Recurrence, Odds Ratio, Thrombolytic Therapy, 030212 general & internal medicine, Myocardial infarction, Original Research, Primary percutaneous coronary intervention, Shock, Thrombolysis, Middle Aged, Clopidogrel, Femoral Artery, Tissue Plasminogen Activator, Radial Artery, Cardiology, Female, Cardiology and Cardiovascular Medicine, medicine.medical_specialty, Ticlopidine, Arterial access, Hemorrhage, 03 medical and health sciences, Percutaneous Coronary Intervention, Fibrinolytic Agents, Internal medicine, Catheterization, Peripheral, ST‐segment elevation myocardial infarction, Journal Article, medicine, Humans, Enoxaparin, Mortality, Aged, Heart Failure, Pharmacoinvasive strategy, Aspirin, business.industry, Percutaneous coronary intervention, Odds ratio, medicine.disease, ST-segment elevation myocardial infarction, Clinical trial, Blood pressure, Heart failure, Multivariate Analysis, Conventional PCI, Tenecteplase, ST Elevation Myocardial Infarction, business, Acute Coronary Syndromes, Platelet Aggregation Inhibitors
Abstract

Background The effectiveness of radial access ( RA ) in ST ‐elevation myocardial infarction ( STEMI ) has been predominantly established in primary percutaneous coronary intervention ( pPCI ) with limited exploration of this issue in the early postfibrinolytic patient. The purpose of this study was to compare the effectiveness and safety of RA versus femoral ( FA ) access in STEMI undergoing either a pharmacoinvasive ( PI ) strategy or pPCI . Methods and Results Within ST rategic Reperfusion Early After Myocardial Infarction ( STREAM ), we evaluated the relationship between arterial access site and primary outcome (30‐day composite of death, shock, congestive heart failure, or reinfarction) and major bleeding according to the treatment strategy received. A total of 1820 STEMI patients were included: 895 PI (49.2%; rescue PCI [n=379; 42.3%], scheduled PCI [n=516; 57.7%]) and 925 pPCI (50.8%). Irrespective of treatment strategy, there was comparable utilization of either access site ( FA : PI 53.4% and pPCI 57.6%). FA STEMI patients were younger, had lower presenting systolic blood pressure, lesser Thrombolysis In Myocardial Infarction risk, and more ∑ ST ‐elevation at baseline. The primary composite endpoint occurred in 8.9% RA versus 15.7% FA patients ( P RA persisted (adjusted odds ratio [ OR ], 0.59; 95% CI , 0.44–0.78; P pPCI (adjusted OR , 0.63; 95% CI , 0.43–0.92) and PI cohorts (adjusted OR , 0.57 95% CI , 0.37–0.86; P interaction=0.730). There was no difference in nonintracranial major bleeding with either access group ( RA vs FA , 5.2% vs 6.0%; P =0.489). Conclusions Regardless of the application of a PI or pPCI strategy, RA was associated with improved clinical outcomes, supporting current STEMI evidence in favor of RA in PCI . Clinical Trial Registration URL : https://www.clinicaltrials.gov/ . Unique identifier: NCT 00623623.

Published
2016

3. [Effects of education and strength training on functional tests among older people with osteoarthritis]

Author

Christian Edgardo, Jiménez S, Rubén, Fernández G, Félix, Zurita O, Daniel, Linares G, and Ariel, Farías M

Subjects
Male, Treatment Outcome, Osteoarthritis, Quality of Life, Humans, Female, Resistance Training, Muscle Strength, Aged, Exercise Therapy
Abstract

Hip and knee osteoarthritis are important causes of pain and disability among older people. Education and strength training can alleviate symptoms and avoid functional deterioration.To assess muscle strength, fall risk and quality of life of older people with osteoarthritis and the effects of physiotherapy education and strength training on these variables.Thirty participants aged 78 ± 5 years (63% women) were randomly assigned to receive physiotherapy (Controls), physiotherapy plus education (Group 1) and physiotherapy plus strength training (group 2). At baseline and after 16 weeks of intervention, patients were evaluated with the Senior Fitness Test, Timed Up and Go and Quality of Life score short form (SF-36).During the intervention period, Senior Fitness Test and Timed Up and Go scores improved in all groups and SF-36 did not change. The improvement in Senior Fitness Test and Timed Up and Go was more marked in Groups 1 and 2 than in the control group.Education and strength training improve functional tests among older people with osteoarthritis.

Published
2013

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