Publicaciones más relevantes

A continuación se detallan las publicaciones más relevantes de 2018:

• Área de Cáncer.

PD-1 Blockade with Cemiplimab in Advanced Cutaneous Squamous-Cell Carcinoma.

Migden MR, Rischin D, Schmults CD, Guminski A, Hauschild A, Lewis KD, Chung CH, Hernandez-Aya L, Lim AM, Chang ALS, Rabinowits G, Thai AA, Dunn LA, Hughes BGM, Khushalani NI, Modi B, Schadendorf D, Gao B, Seebach F, Li S, Li J, Mathias M, Booth J, Mohan K, Stankevich E, Babiker HM, Brana I, Gil-Martin M, Homsi J, Johnson ML, Moreno V, Niu J, Owonikoko TK, Papadopoulos KP, Yancopoulos GD, Lowy I, Fury MG.

The New England journal of medicine. 2018 Jul 26;379(4):341-351.

PMID: 29863979

FI: 79,26

Pembrolizumab plus Chemotherapy in Metastatic Non-Small-Cell Lung Cancer.

Gandhi L, Rodríguez-Abreu D, Gadgeel S, Esteban E, Felip E, De Angelis F, Domine M, Clingan P, Hochmair MJ, Powell SF, Cheng SY, Bischoff HG, Peled N, Grossi F, Jennens RR, Reck M, Hui R, Garon EB, Boyer M, Rubio-Viqueira B, Novello S, Kurata T, Gray JE, Vida J, Wei Z, Yang J, Raftopoulos H, Pietanza MC, Garassino MC, KEYNOTE-189 Investigators.

The New England journal of medicine. 2018 May 31 Volume: 378 Issue: 22 Pages: 2078-2092.

PMID: 29658856

FI: 79,26

MSK1 regulates luminal cell differentiation and metastatic dormancy in ER⁺ breast cancer.

Gawrzak S, Rinaldi L, Gregorio S, Arenas EJ, Salvador F, Urosevic J, Figueras-Puig C, Rojo F, Del Barco Barrantes I, Cejalvo JM, Palafox M, Guiu M, Berenguer-Llergo A, Symeonidi A, Bellmunt A, Kalafatovic D, Arnal-Estapé A, Fernández E, Müllauer B, Groeneveld R, Slobodnyuk K, Stephan-Otto Attolini C, Saura C, Arribas J, Cortes J, Rovira A, Muñoz M, Lluch A, Serra V, Albanell J, Prat A, Nebreda AR, Benitah SA, Gomis RR.

Nature cell biology. 2018 Feb Volume: 20 Issue: 2 Pages: 211-221.

PMID: 29358704

FI: 19,064

DUSP22-rearranged anaplastic lymphomas are characterized by specific morphological features and a lack of cytotoxic and JAK/STAT surrogate markers.

Onaindia A, González de Villambrosía S, Prieto-Torres L, Rodríguez-Pinilla SM, Montes-Moreno S, González-Vela C, Piris MA.

Haematologica Epub 2018 Oct 25. 2019 Apr;104(4):e158-e162.

PMID: 30361415

FI: 9,09

Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA.

Borràs N, Orriols G, Batlle J, Pérez-Rodríguez A, Fidalgo T, Martinho P, López-Fernández MF, Rodríguez-Trillo Á, Lourés E, Parra R, Altisent C, Cid AR, Bonanad S, Cabrera N, Moret A, Mingot-Castellano ME, Navarro N, Pérez-Montes R, Marcellini S, Moreto A, Herrero S, Soto I, Fernández-Mosteirín N, Jiménez-Yuste V, Alonso N, de Andrés-Jacob A, Fontanes E, Campos R, Paloma MJ, Bermejo N, Berrueco R, Mateo J, Arribalzaga K, Marco P, Palomo Á, Castro Quismondo N, Iñigo B, Nieto MDM, Vidal R, Martínez MP, Aguinaco R, Tenorio JM, Ferreiro M, García-Frade J, Rodríguez-Huerta AM, Cuesta J, Rodríguez-González R, García-Candel F, Dobón M, Aguilar C, Vidal F, Corrales I.

Haematologica. Epub 2018 Oct 25. 2019 Mar;104(3):587-598.

PMID: 30361419

FI: 9,09

• Área de Enfermedades Infecciosas, Inflamatorias y Crónicas.

Genetic variants with gene regulatory effects are associated with diisocyanate-induced asthma.

Bernstein DI, Lummus ZL, Kesavalu B, Yao J, Kottyan L, Miller D, Cartier A, Cruz MJ, Lemiere C, Muñoz X, Quirce S, Tarlo S, Sastre J, Boulet LP, Weirauch MT, Kaufman K.

The Journal of allergy and clinical immunology 2018 Sep;142(3):959-969.

PMID: 29969634

FI: 13,258

Reliability of a consensus-based ultrasound definition and scoring for enthesitis in spondyloarthritis and psoriatic arthritis: an OMERACT US initiative.

Balint PV, Terslev L, Aegerter P, Bruyn GAW, Chary-Valckenaere I, Gandjbakhch F, Iagnocco A, Jousse-Joulin S, Möller I, Naredo E, Schmidt WA, Wakefield RJ, D'Agostino MA, OMERACT Ultrasound Task Force members.

Annals of the rheumatic diseases. 2018 Dec;77(12):1730-1735.

PMID: 30076154

FI: 12,35

2018 update of the EULAR recommendations for the management of hand osteoarthritis.

Kloppenburg M, Kroon FP, Blanco FJ, Doherty M, Dziedzic KS, Greibrokk E, Haugen IK, Herrero-Beaumont G, Jonsson H, Kjeken I, Maheu E, Ramonda R, Ritt MJ, Smeets W, Smolen JS, Stamm TA, Szekanecz Z, Wittoek R, Carmona L.

Annals of the rheumatic diseases. Epub 2018 Aug 28. 2019 Jan;78(1):16-24.

PMID: 30154087

FI: 12,35

Biomarkers of carcinogenesis and tumour growth in patients with cutaneous melanoma and obstructive sleep apnoea.

Santamaria-Martos F, Benítez I, Girón C, Barbé F, Martínez-García MA, Hernández L, Montserrat JM, Nagore E, Martorell A, Campos-Rodriguez F, Corral J, Cabriada V, Abad J, Mediano O, Troncoso MF, Cano-Pumarega I, Fortuna Gutierrez AM, Diaz-Cambriles T, Somoza-Gonzalez M, Almendros I, Farre R, Gozal D, Sánchez-de-la-Torre M, Spanish Sleep Network.

The European respiratory journal. Supplement. 2018 Mar 15;51(3). pii: 1701885.

PMID: 29519923

FI: 12,244

Class-modeling analysis reveals T-cell homeostasis disturbances involved in loss of immune control in elite controllers.

Benito JM, Ortiz MC, León A, Sarabia LA, Ligos JM, Montoya M, Garcia M, Ruiz-Mateos E, Palacios R, Cabello A, Restrepo C, Rodriguez C, Del Romero J, Leal M, Muñoz-Fernández MA, Alcamí J, García F, Górgolas M, Rallón N, ECRIS integrated in the Spanish AIDS Research Network.

BMC medicine. 2018 Feb 28 Volume: 16 Issue: 1 Pages: 30.

PMID: 29490663

FI: 9,088

• Área de Neurociencias.

Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.

Bailey JN, de Nijs L, Bai D, Suzuki T, Miyamoto H, Tanaka M, Patterson C, Lin YC, Medina MT, Alonso ME, Serratosa JM, Durón RM, Nguyen VH, Wight JE, Martínez-Juárez IE, Ochoa A, Jara-Prado A, Guilhoto L, Molina Y, Yacubian EM, López-Ruiz M, Inoue Y, Kaneko S, Hirose S, Osawa M, Oguni H, Fujimoto S, Grisar TM, Stern JM, Yamakawa K, Lakaye B, Delgado-Escueta AV.

The New England journal of medicine 2018 Mar 15 Volume: 378 Issue: 11 Pages: 1018-1028.

PMID: 29539279

FI: 79,26

Rare coding variants in genes encoding GABA_A receptors in genetic generalised epilepsies: an exome-based case-control study.

May P, Girard S, Harrer M, Bobbili DR, Schubert J, Wolking S, Becker F, Lachance-Touchette P, Meloche C, Gravel M, Niturad CE, Knaus J, De Kovel C, Toliat M, Polvi A, Iacomino M, Guerrero-López R, Baulac S, Marini C, Thiele H, Altmüller J, Jabbari K, Ruppert AK, Jurkowski W, Lal D, Rusconi R, Cestèle S, Terragni B, Coombs ID, Reid CA, Striano P, Caglayan H, Siren A, Everett K, Møller RS, Hjalgrim H, Muhle H, Helbig I, Kunz WS, Weber YG, Weckhuysen S, Jonghe P, Sisodiya SM, Nabbout R, Franceschetti S, Coppola A, Vari MS, Kasteleijn-Nolst Trenité D, Baykan B, Ozbek U, Bebek N, Klein KM, Rosenow F, Nguyen DK, Dubeau F, Carmant L, Lortie A, Desbiens R, Clément JF, Cieuta-Walti C, Sills GJ, Auce P, Francis B, Johnson MR, Marson AG, Berghuis B, Sander JW, Avbersek A, McCormack M, Cavalleri GL, Delanty N, Depondt C, Krenn M, Zimprich F, Peter S, Nikanorova M, Kraaij R, van Rooij J, Balling R, Ikram MA, Uitterlinden AG, Avanzini G, Schorge S, Petrou S, Mantegazza M, Sander T, LeGuern E, Serratosa JM, Koeleman BPC, Palotie A, Lehesjoki AE, Nothnagel M, Nürnberg P, Maljevic S, Zara F, Cossette P, Krause R, Lerche H, Epicure Consortium., EuroEPINOMICS CoGIE Consortium., EpiPGX Consortium.

Lancet Neurology 2018 Aug;17(8):699-708.

PMID: 30033060

FI: 27,144

Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients.

Calsina B, Currás-Freixes M, Buffet A, Pons T, Contreras L, Letón R, Comino-Méndez I, Remacha L, Calatayud M, Obispo B, Martin A, Cohen R, Richter S, Balmaña J, Korpershoek E, Rapizzi E, Deutschbein T, Vroonen L, Favier J, de Krijger RR, Fassnacht M, Beuschlein F, Timmers HJ, Eisenhofer G, Mannelli M, Pacak K, Satrústegui J, Rodríguez-Antona C, Amar L, Cascón A, Dölker N, Gimenez-Roqueplo AP, Robledo M.

Genetics in medicine : official journal of the American College of Medical Genetics. 2018 Dec;20(12):1652-1662.

PMID: 30008476

FI: 9,937

From eHealth to iHealth: Transition to Participatory and Personalized Medicine in Mental Health.

Berrouiguet S, Perez-Rodriguez MM, Larsen M, Baca-García E, Courtet P, Oquendo M.

Journal of medical Internet research. 2018 Jan 3 Volume: 20 Issue: 1 Pages: e2.

PMID: 29298748

FI: 4,671

Presence of tau astrogliopathy in frontotemporal dementia caused by a novel Grn nonsense (Trp2*) mutation.

Gómez-Tortosa E, Baradaran-Heravi Y, González Alvarez V, Sainz MJ, Prieto-Jurczynska C, Guerrero-López R, Agüero Rabes P, Van Broeckhoven C, van der Zee J, Rábano Gutiérrez A, EU EOD Consortium.

Neurobiology of aging Epub 2018 Nov 20. 2019 Apr;76:214.e11-214.e15.

PMID: 30545478

FI: 4,454

• Área de Enfermedades Renales, Metabólicas y Cardiovasculares.

Global, regional, and national age-sex-specific mortality for 282 causes of death in 195 countries and territories, 1980-2017: a systematic analysis for the Global Burden of Disease Study 2017.

GBD 2017 Causes of Death Collaborators (Ortiz A).

Lancet. 2018 Nov 10 Volume: 392 Issue: 10159 Pages: 1736-1788.

PMID: 30496103

FI: 53,254

Take a deep (nitric oxide) breath and follow the reverse translational research pathway.

Lobo M, Ibanez B.

European heart journal. Quality of care &clinical outcomes. 2018 Aug 1;39(29):2726-2729.

PMID: 29945192

FI: 23,425

Integrating the results of the CULPRIT-SHOCK trial in the 2017 ESC ST-elevation myocardial infarction guidelines: viewpoint of the task force.

Ibanez B, Halvorsen S, Roffi M, Bueno H, Thiele H, Vranckx P, Neumann FJ, Windecker S, James S.

European heart journal. Quality of care &clinical outcomes. 2018 Dec 21;39(48):4239-4242.

PMID: 29850788

FI: 23,425

Lipid management in patients with chronic kidney disease.

Ferro CJ, Mark PB, Kanbay M, Sarafidis P, Heine GH, Rossignol P, Massy ZA, Mallamaci F, Valdivielso JM, Malyszko J, Verhaar MC, Ekart R, Vanholder R, London G, Ortiz A, Zoccali C.

Nature reviews. Nephrology. 2018 Dec;14(12):727-749.

PMID: 30361677

FI: 14,101

Effects of Pentoxifylline on Soluble Klotho Concentrations and Renal Tubular Cell Expression in Diabetic Kidney Disease.

Navarro-González JF, Sánchez-Niño MD, Donate-Correa J, Martín-Núñez E, Ferri C, Pérez-Delgado N, Górriz JL, Martínez-Castelao A, Ortiz A, Mora-Fernández C.

Diabetes care. 2018 Aug;41(8):1817-1820.

PMID: 29866645

FI: 13,397

• Área de Genética y Genómica.

Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly.

Rodriguez-Laguna L, Agra N, Ibañez K, Oliva-Molina G, Gordo G, Khurana N, Hominick D, Beato M, Colmenero I, Herranz G, Torres Canizalez JM, Rodríguez Pena R, Vallespín E, Martín-Arenas R, Del Pozo Á, Villaverde C, Bustamante A, Ayuso C, Lapunzina P, Lopez-Gutierrez JC, Dellinger MT, Martinez-Glez V.

The Journal of experimental medicine Epub 2018 Dec 27. 2019 Feb 4;216(2):407-418.

PMID: 30591517

FI: 10,79

CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.

Rodriguez-Laguna L, Ibañez K, Gordo G, Garcia-Minaur S, Santos-Simarro F, Agra N, Vallespín E, Fernández-Montaño VE, Martín-Arenas R, Del Pozo Á, González-Pecellín H, Mena R, Rueda-Arenas I, Gomez MV, Villaverde C, Bustamante A, Ayuso C, Ruiz-Perez VL, Nevado J, Lapunzina P, Lopez-Gutierrez JC, Martinez-Glez V.

Genetics in medicine: official journal of the American College of Medical Genetics. 2018 Aug;20(8):882-889.

PMID: 29446767

FI: 9,937

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.

Van de Sompele S, Smith C, Karali M, Corton M, Van Schil K, Peelman F, Cherry T, Rosseel T, Verdin H, Derolez J, Van Laethem T, Khan KN, McKibbin M, Toomes C, Ali M, Torella A, Testa F, Jimenez B, Simonelli F, De Zaeytijd J, Van den Ende J, Leroy BP, Coppieters F, Ayuso C, Inglehearn CF, Banfi S, De Baere E.

Genetics in medicine 2018 Oct 31.

PMID: 30377383

FI: 9,937

Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia.

Tarilonte M, Morín M, Ramos P, Galdós M, Blanco-Kelly F, Villaverde C, Rey-Zamora D, Rebolleda G, Muñoz-Negrete FJ, Tahsin-Swafiri S, Gener B, Moreno-Pelayo MA, Ayuso C, Villamar M, Corton M.

Frontiers in genetics. 2018 Volume: 9 Issue: Pages: 479.

PMID: 30386378

FI: 4,151

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.

Sanchez-Navarro I, R J da Silva L, Blanco-Kelly F, Zurita O, Sanchez-Bolivar N, Villaverde C, Lopez-Molina MI, Garcia-Sandoval B, Tahsin-Swafiri S, Minguez P, Riveiro-Alvarez R, Lorda I, Sanchez-Alcudia R, Perez-Carro R, Valverde D, Liu Y, Tian L, Hakonarson H, Avila-Fernandez A, Corton M, Ayuso C.

Scientific reports. 2018 Mar 27 Volume: 8 Issue: 1 Pages: 5285.

PMID: 29588463

FI: 4,122

• Área de Tecnología e Innovación Sanitaria.

Biotechnology Challenges to In Vitro Maturation of Hepatic Stem Cells.

Chen C, Soto-Gutierrez A, Baptista PM, Spee B.

Gastroenterology. 2018 Apr Volume: 154 Issue: 5 Pages: 1258-1272.

PMID: 29428334

FI: 20,773

Assessment of Pragmatism in Recently Published Randomized Clinical Trials.

Janiaud P, Dal-Ré R, Ioannidis JPA.

JAMA internal medicine. 2018 Sep 1;178(9):1278-1280.

PMID: 30039169

FI: 19,989

The Secretion of miR-200s by a PKC?/ADAR2 Signaling Axis Promotes Liver Metastasis in Colorectal Cancer.

Shelton PM, Duran A, Nakanishi Y, Reina-Campos M, Kasashima H, Llado V, Ma L, Campos A, García-Olmo D, García-Arranz M, García-Olmo DC, Olmedillas-López S, Caceres JF, Diaz-Meco MT, Moscat J.

Cell reports. 2018 Apr 24 Volume: 23 Issue: 4 Pages: 1178-1191.

PMID: 29694894

FI: 8,032

Comment on 'Distinct clinical outcomes of two CIMP-positive colorectal cancer subtypes based on a revised CIMP classification system'.

Tapial S, Rueda D, Arriba M, Luis García J, Brandáriz L, Pérez J, Rodríguez Y, García-Olmo D, González-Sarmiento R, Urioste M, Perea J.

British journal of cancer. 2018 Feb 6 Volume: 118 Issue: 3 Pages: e3.

PMID: 29384528

FI: 5,922

Preoperative administration of Omega-3 fatty acids on postoperative pain and acute-phase reactants in patients undergoing Roux-en-Y gastric bypass: A randomized clinical trial.

Ruiz-Tovar J, Blanca M, Garcia A, Gonzalez J, Gutierrez S, Paniagua A, Prieto MJ, Ramallo L, Llanos L, Duran M.

Clinical nutrition: official journal of the European Society of Parenteral and Enteral Nutrition. 2018 Jul 29. pii: S0261-5614(18)31228-7.

PMID: 30097364

FI: 5,496