Publicaciones de los grupos de investigación: enero 2012
Biología molecular de los tumores en desarrollo
Mora J, Rodríguez E, De Torres C, Cardesa T, Ríos J, Hernández T, Cardesa A, De Alava E. Activated growth signaling pathway expression in Ewing sarcoma and clinical outcome. Pediatr Blood Cancer 2012 :in print. Factor de impacto: 1,948. C2.
Rives S, Camós M, Estella J, Gómez P, López Duarte M, Navajas A, Badell I. Validation of the 'French Acute Lymphoblastic Leukaemia Study Group FRALLE prognostic index' for paediatric Philadelphia-chromosome acute lymphoblastic leukaemia. Br J Haematol 2012 ;156 (2) :284-6. Factor de impacto: 4,942. C1.
Desarrollo neuronal y enfedades metabólicas
Campistol J, Gálvez H, García Cazorla A, Málaga I, Iriondo M, Cusí Sanchez V. Disfunción neurológica inducida por bilirrubina. Neurologia 2012 :in print. Factor de impacto: 0,589. C4.
Campistol J, González MJ, Gutiérrez AP, Vilaseca MA. Tratamiento y control de los pacientes con fenilcetonuria: resultados del Grupo Colaborativo de Unidades de Seguimiento en España. Med Clin (Barc) 2012 :in print. Factor de impacto: 1,413. C2.
Canals I, Elalaoui SC, Pineda M, Delgadillo V, Szlago M, Jaouad IC, Sefiani A, Chabás A, Coll MJ, Grinberg D, Vilageliu L. Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles. Clin Genet 2012 :in print. Factor de impacto: 2,942. C2.
Casado M, O'Callaghan M, Montero R, Pérez Cerda C, Briones P, Quintana E, Muchart J, Aracil A, Pineda M, Artuch R. Mild Clinical and Biochemical Phenotype in Two Patients with PMM2-CDG (Congenital Disorder of Glycosylation Ia). Cerebellum 2012 :in print. Factor de impacto: 3,288. C2.
Fons C, Campistol J, Panagiotakaki E, Giannotta M, Arzimanoglou A, Gobbi G, Neville B, Ebinger F, Nevsimalova S, Laan L, Casaer P, Spiel G, Ninan M, Sange G, Artuch R, Schyns T, Vavassori R, Poncelin D. ENRAH Consortium. Alternating hemiplegia of childhood: metabolic studies in the largest European series of patients. Eur J Paediatr Neurol 2012 ;16 (1) :10-14. Factor de impacto: 1,994. C2.
Fons C, Rizzu P, García Cazorla A, Martorell L, Ormazábal A, Artuch R, Campistol J, Fernández Álvarez E. TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatment. Brain Dev 2012 :in print. Factor de impacto: 1,979. C3.
Pérez Dueñas B, Sempere A, Campistol J, Alonso I, Díez M, González V, Merinero B, Desviat LR, Artuch R. Novel features in the evolution of adenylosuccinate lyase deficiency. Eur J Pediatr Neurol 2012 :in print. Factor de impacto: 1,994. C2.
Quintana E, Pineda M, Font A, Vilaseca MA, Tort F, Ribes A, Briones P. Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain. J Inherit Metab Dis 2012 :in print. Factor de impacto: 3,808. C2.
Sánchez Fernández I, Rebollo M, Muñoz Almagro C, Monfort L, Fernández Ureña S, Rueda A, Colomé R, Pérez Dueñas B. Human Metapneumovirus in the Cerebrospinal Fluid of a Patient With Acute Encephalitis. Arch Neurol 2012 :in print. Factor de impacto: 7,108. C1.
Sempere A, Fons C, Arias A, Rodríguez Pombo P, Colomer Artigas R, Merinero B, Alcaide P, Capdevila A, Ribes A, Artuch R, Campistol J. Creatine transporter deficiency in two adult patients with static encephalopathy. J Inherit Metab Dis 2012 :in print. Factor de impacto: 3,808. C2.
Tondo M, Gámez J, Gutiérrez Rivas E, Medel R, Martorell L. Genotype and phenotype study of 34 Spanish patients diagnosed with oculopharyngeal muscular dystrophy. J Neurol 2012 :in print. Factor de impacto: 3,853. C1.
Tondo M, Lambruschini N, Gómez López L, Gutierrez A, Moreno J, García Cazorla A, Pérez Dueñas B, Pineda M, Campistol J, Vilaseca MA, Artuch R. The Monitoring of trace elements in blood samples from patients with inborn errors of metabolism. J Inherit Metab Dis 2012 :in print. Factor de impacto: 3,808. C2.
Etiopatogenia y tratamiento de los trastornos mentales graves
Bernardo M, San L, Olivares JM, Dilla T, Polavieja P, Gilaberte I, Álvarez M, Ciudad A. Treatment patterns and health care resoure utilization in a 1-year observational cohort study of outpatients with schizophrenia at risk of nonadherence treated with long-acting injectable antipsychotics. Patient Prefer Adherence 2012 :in print.
Ciudad A, San L, Bernardo M, Olivares JM, Polavieja P, Valladares A, Gilaberte I. Relapse and therapeutic interventions in a 1-year observational cohort study of nonadherent outpatients with schizophrenia. Prog Neuropsychopharmacol Biol Psychiatry 2012 ;36 (2) :245-50. Factor de impacto: 2,877. C2.
Ciudad A, Bobes J, San L. Symptomatic remission in schizophrenia patients: relationship with social functioning, quality of life, and neurocognitive performance. Schizophr Res 2012 :in print. Factor de impacto: 4,374. C1.
Gorwood P, Peuskens J. Setting new standards in schizophrenia outcomes: Symptomatic remission 3years before versus after the andreasen criteria. Eur Psychiatry 2012 :in print. Factor de impacto: 3,365. C2.
Irazábal M, Marsà F, García M, Gutiérrez Recacha P, Martorell A, Salvador Carulla L, Ochoa S. Family burden related to clinical and functional variables of people with intellectual disability with and without a mental disorder. Res Dev Disabil 2012 ;33 (3) :796-803. Factor de impacto: 3,201. C1.
Karow A, Naber D, Lambert M, Moritz S. Remission as perceived by people with schizophrenia, family members and psychiatrists. Eur Psychiatry 2012 :in print. Factor de impacto: 3,365. C2.
Karow A, Moritz S, Lambert M, Schöttle D, Naber D. Remitted but still impaired? Symptomatic versus functional remission in patients with schizophrenia. Eur Psychiatry 2012 :in print. Factor de impacto: 3,365. C2.
Llorca PM, Blanc O, Samalin L, Bosia M, Cavallaro R. Factors involved in the level of functioning of patients with schizophrenia according to latent variable modeling. Eur Psychiatry 2012 :in print. Factor de impacto: 3,365. C2.
Matalí JL, Serrano E, Pardo M, Trenchs V, Curcoy A, Luaces C, San L. Perfil de los adolescentes que acuden a urgencias por intoxicación enólica aguda. An Pediatr (Barc) 2012 ;76 (1) :30-7. Factor de impacto: 0,570. C4.
Peuskens J, Gorwood P. How are we assessing functioning in schizophrenia? A need for a consensus approach. Eur Psychiatry 2012 :in print. Factor de impacto: 3,365. C2.
Sanjuán J, Haro JM, Mauriño J, Díez T, Ballesteros J. Validación de la versión en castellano de la Escala del Bienestar Subjetivo con neurolépticos (SWN-K) en pacientes con esquizofrenia. Med Clin (Barc) 2012 :in print. Factor de impacte: 1,413. C2.
Üçok A, Gorwood P, Karadayi G. Employment and its relationship with functionality and quality of life in patients with schizophrenia: EGOFORS Study. Eur Psychiatry 2012 :in print. Factor de impacto: 3,365. C2.
Enfermedades del adulto con origen fetal o en los primeros años de vida
García Aparicio L, Krauel L, Tarrado X, Olivares M, García Núñez B, Lerena J, Saura L, Rovira J, Rodó J. Heminephroureterectomy for duplex kidney: laparoscopy versus open surgery. J Pediatr Urol 2012 :in print.
León M, Muchart J, García Alix A. Hipoplasia adenohipofisiaria congénita aislada. An Pediatr (Barc) 2012 :in print. Factor de impacto: 0,570. C4.
Marín S, Casano P, Villarreal N, Sebastiani G, Pinillos S, Pérez Dueñas B, Hwa V, Rosenfeld RG, Ibáñez L. Triple A Syndrome in a Patient with Genetic Growth Hormone Insensitivity: Phenotypic Effects of Two Genetic Disorders. Horm Res Paediatr 2012 :in print. Factor de impacto: 2,044. C3.
Mazarico E, González Bosquet E. Prevalence of infection by different genotypes of human papillomavirus in women with cervical pathology. Gynecol Oncol 2012 :in print. Factor de impacto: 3,760. C1.
Osiniri I, Sitjar C, Soriano P, Prats A, Casas C, Mayol L, De Zegher F, Ibáñez L, Bassols J, López Bermejo A. Carotid Intima-Media Thickness at 7 Years of Age: Relationship to C-Reactive Protein Rather than Adiposity. J Pediatr 2012 ;160 (2) :276-280. Factor de impacto: 4,042. C1.
Prats A, Sitjar C, Ribot R, Calvo M, Clausell N, Soler M, Soriano P, Osiniri I, Ros M, Bassols J, De Zegher F, Ibáñez L, López Bermejo A. Relative Hypoadiponectinemia, Insulin Resistance, and Increased Visceral Fat in Euthyroid Prepubertal Girls With Low-Normal Serum Free Thyroxine. Obesity 2012 :in print. Factor de impacto: 3,531. C1.
Prats A, Puig T, Sitjar C, Mas M, Grau P, Soriano P, Montesinos M, Díaz M, De Zegher F, Ibáñez L, Bassols J, López Bermejo A. Soluble fatty acid synthase relates to bone biomarkers in prepubertal children. Osteoporos Int 2012 :in print. Factor de impacto: 4,859. C1.
Sabrià J, Barceló C, Arigita M, Jiménez J, Puerto B, Borrell A. The Cusum test applied in prospective nuchal translucency quality review. Ultrasound Obstet Gynecol 2012 :in print. Factor de impacto: 3,163. C1.
Valladares E, Rodríguez D, Vela A, Cabré S, Laïlla JM. Meconium pseudocyst secondary to ileum volvulus perforation without peritoneal calcification: a case report. J Med Case Reports 2012 :in print.
Enfermedades infecciosas e inmunopatología infantil
Andrés Martín A, Moreno Pérez D, Alfayate S, Couceiro JA, García García ML, Korta J, Martínez León MI, Muñoz Almagro C, Obando I, Pérez Pérez G. Etiología y diagnóstico de la neumonía adquirida en la comunidad y sus formas complicadas. An Pediatr (Barc) 2012 :in print. Factor de impacto: 0,570. C4.
Cillóniz C, Ewig S, Polverino E, Muñoz Almagro C, Marco F, Gabarrús A, Menéndez R, Mensa J, Torres A. Pulmonary complications of pneumococcal community-acquired pneumonia: incidence, predictors, and outcomes. Clin Microbiol Infect 2012 :in print. Factor de impacto: 4,784. C1.
De Sevilla M, García JJ, Esteva C, Moraga F, Hernández S, Selva L, Coll F, Ciruela P, Planes AM, Codina G, Salleras L, Jordan I, Domínguez A, Muñoz Almagro C. Clinical Presentation of Invasive Pneumococcal Disease in Spain in the Era of Heptavalent Conjugate Vaccine. Pediatr Infect Dis J 2012 ;31 (2) :124-8. Factor de impacto: 3,064. C1.
Domínguez O, Giner MT, Alsina L, Martín MA, Lozano J, Plaza AM. Fenotipos clínicos asociados a la deficiencia selectiva de IgA: revisión de 330 casos y propuesta de un protocolo de seguimiento. An Pediatr (Barc) 2012 :in print. Factor de impacto: 0,570. C4.
García MB, Domínguez O, Juan M, Aróstegui JI, Badell I, Chapman E, Martín Mateos MA. Type I leucocyte adhesion deficiency (LAD I). Report of a case. Allergol Immunopathol (Madr) 2012 :in print. Factor de impacto: 0,779. C3.
Guinovart RM, Vicente A, Rovira C, Suñol M, González Enseñat MA. Facial telangiectasia: an unusual manifestation of neonatal lupus erythematosus. Lupus 2012 :in print.
Hernández Martín A, García Doval I, Aranegui B, de Unamuno P, Rodríguez Pazos L, González Enseñat MA, Vicente A, Martín Santiago A, García Bravo F, Feito M, Baselga E, Círia S, De Lucas R, Ginarte M, González Sarmiento R, Torrelo A. Prevalence of autosomal recessive congenital ichthyosis: A population-based study using the capture-recapture method in Spain. J Am Acad Dermatol 2012 :in print. Factor de impacto: 4,274. C1.
Jordan I, Arriortúa AB, Torre JA, Antón J, Vicente J, González C. Estudio multicéntrico nacional sobre la infección nosocomial en la UCIP. An Pediatr (Barc) 2012 :in print. Factor de impacto: 0,570. C4.
Martínez Planas A, Muñoz Almagro C, Luaces C, Noguera A, Selva L, Fernández JP, García García JJ. Low prevalence of invasive bacterial infection in febrile infants under 3 months of age with enterovirus infection. Clin Microbiol Infect 2012 :in print. Factor de impacto: 4,784. C1.
Rodríguez Guerineau L, Gargallo E, Simó M, Antón J. Infección estafilocócica diseminada con manifestaciones clínicas Kawasaki-like. An Pediatr (Barc) 2012 :in print. Factor de impacto: 0,570. C4.
Selva L, Martínez Planas A, García García JJ, Casadevall R, Luaces C, Muñoz Almagro C. Comparison of an in-house real-time RT-PCR assay with a commercial assay for detection of enterovirus RNA in clinical samples. Eur J Clin Microbiol Infect Dis 2012 :in print. Factor de impacto: 2,631. C2.
Selva L, Ciruela P, Esteva C, De sevilla M, Codina G, Hernández S, Moraga F, García García JJ, Planes A, Coll F, Jordan I, Cardeñosa N, Batalla J, Salleras L, Domínguez A, Muñoz Almagro C. Serotype 3 is a common serotype causing invasive pneumococcal disease in children less than 5 years old, as identified by real-time PCR. Eur J Clin Microbiol Infect Dis 2012 :in print. Factor de impacto: 2,631. C2.
Tecnologías sanitarias y resultados en Atención Primaria
Aguado J, Campbell A, Ascaso C, Navarro P, García Esteve L, Luciano JV. Examining the Factor Structure and Discriminant Validity of the 12-Item General Health Questionnaire (GHQ-12) Among Spanish Postpartum Women. Assessment 2012 :in print. Factor de impacto: 2,338. C1.
Fayed N, Andres E, Rojas G, Moreno S, Serrano Blanco A, Roca M, García Campayo J. Brain dysfunction in fibromyalgia and somatization disorder using proton magnetic resonance spectroscopy: a controlled study. Acta Psychiatr Scand 2012 :in print. Factor de impacto: 3,795. C1.
Rubio Valera M, Fernández A, Luciano JV, Hughes CM, Pinto Meza A, Moreno Küstner B, Palao DJ, Haro JM, Serrano Blanco A. Psychotropic prescribing in primary care in Catalonia--results from an epidemiological study. Fam Pract 2012 :in print. Factor de impacto: 1,709. C2.
Sevilla Dedieu C, Kovess V, Angermeyer MC, Bruffaerts R, Fernández A, Girolamo GD, De Graaf R, Haro JM, König HH. Measuring use of services for mental health problems in epidemiological surveys. Int J Methods Psychiatr Res 2012 :in print. Factor de impacto: 2,344. C2.
Pediatría
Callejón L, Boix C, López Sala A, Colomé R, Fumadó V, Sans A. Perfil neuropsicológico de niños adoptados internacionalmente en Cataluña. An Pediatr (Barc) 2012 ;76 (1) :23-9. Factor de impacto: 0,570. C4.
Curcoy A, Trenchs V, Morales M, Serra A, Pou J. Is pertussis in infants a potential cause of retinal haemorrhages? Arch Dis Child 2012 :in print. Factor de impacto: 2,616. C1.
Kim J, Bhattacharjee R, Kheirandish-Gozal L, Khalyfa A, Sans-Capdevila O, Tauman R, Gozal D. Insulin sensitivity, serum lipids, and systemic inflammatory markers in school-aged obese and nonobese children. Int J Pediatr 2012 :in print.
Rodríguez Guerineau L, Suero P, Prada F, Mortera C, Muchart J, Pons Odena M. Tratamiento endovascular del secuestro pulmonar con dispositivos tipo Amplatzer. An Pediatr (Barc) 2012 :in print. Factor de impacto: 0,570. C4.
Vila Pérez D, Muñoz Santanach D, Trenchs V, Badosa J, Luaces C, Pou J. Irradiación en portadores de válvula de derivación de líquido cefalorraquídeo: seguimiento a los 2 años. An Pediatr (Barc) 2012 :in print. Factor de impacte: 0,570. C4.