dc.contributor
Institut Català de la Salut
dc.contributor
[Sampayo-Cordero M, Malfettone A] Medica Scientia Innovation Research (MedSIR), Ridgewood, NJ, USA. Medica Scientia Innovation Research (MedSIR), Barcelona, Spain. [Miguel-Huguet B] Department of Surgery, Hospital de Bellvitge, L’Hospitalet de Llobregat, Barcelona, Spain. [Pérez-García JM] Medica Scientia Innovation Research (MedSIR), Ridgewood, NJ, USA. Medica Scientia Innovation Research (MedSIR), Barcelona, Spain. Institute of Breast Cancer, Quiron Group, Barcelona, Spain. [Llombart-Cussac A] Medica Scientia Innovation Research (MedSIR), Ridgewood, NJ, USA. Medica Scientia Innovation Research (MedSIR), Barcelona, Spain. Hospital Arnau de Vilanova, Universidad Católica de Valencia “San Vicente Mártir”, Valencia, Spain. [Cortés J] Medica Scientia Innovation Research (MedSIR), Ridgewood, NJ, USA. Medica Scientia Innovation Research (MedSIR), Barcelona, Spain. Institute of Breast Cancer, Quiron Group, Barcelona, Spain. Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. [Pérez-López J] Servei de Medicina Interna, Vall d’Hebron Hospital Universitari, Barcelona, Spain
dc.contributor
Vall d'Hebron Barcelona Hospital Campus
dc.contributor.author
Miguel-Huguet, Bernat
dc.contributor.author
Perez-Garcia, Jose Manuel
dc.contributor.author
Llombart-Cussac, Antonio
dc.contributor.author
Cortés Castan, Javier
dc.contributor.author
Pérez López, Jorge
dc.contributor.author
Sampayo-Cordero, Miguel
dc.contributor.author
Malfettone, Andrea
dc.date.accessioned
2023-11-08T10:20:16Z
dc.date.available
2023-11-08T10:20:16Z
dc.date.issued
2021-09-01T10:44:29Z
dc.date.issued
2021-09-01T10:44:29Z
dc.date.issued
2020-09-10
dc.identifier
Sampayo-Cordero M, Miguel-Huguet B, Malfettone A, Pérez-García JM, Llombart-Cussac A, Cortés J, et al. The Value of Case Reports in Systematic Reviews from Rare Diseases. The Example of Enzyme Replacement Therapy (ERT) in Patients with Mucopolysaccharidosis Type II (MPS-II). Int J Environ Res Public Health. 2020 Sep 10;17(18):6590.
dc.identifier
https://hdl.handle.net/11351/6249
dc.identifier
10.3390/ijerph17186590
dc.identifier
000580345000001
dc.identifier.uri
https://hdl.handle.net/11351/6249
dc.description.abstract
Informe de un caso; Enfermedad rara; Revisión sistemática
dc.description.abstract
Informe d'un cas; Malaltia rara; Revisió sistemàtica
dc.description.abstract
Case report; Rare disease; Systematic review
dc.description.abstract
Background: Case reports are usually excluded from systematic reviews. Patients with rare diseases are more dependent on novel individualized strategies than patients with common diseases. We reviewed and summarized the novelties reported by case reports in mucopolysaccharidosis type II (MPS-II) patients treated with enzyme replacement therapy (ERT). Methods: We selected the case reports included in a previous meta-analysis of patients with MPS-II treated with ERT. Later clinical studies evaluating the same topic of those case reports were reported. Our primary aim was to summarize novelties reported in previous case reports. Secondary objectives analyzed the number of novelties evaluated in subsequent clinical studies and the time elapsed between the publication of the case report to the publication of the clinical study. Results: We identified 11 innovative proposals in case reports that had not been previously considered in clinical studies. Only two (18.2%) were analyzed in subsequent nonrandomized cohort studies. The other nine novelties (81.8%) were analyzed in later case reports (five) or were not included in ulterior studies (four) after more than five years from their first publication. Conclusions: Case reports should be included in systematic reviews of rare disease to obtain a comprehensive summary of the state of research and offer valuable information for healthcare practitioners.
dc.description.abstract
This research received no external funding.
dc.format
application/pdf
dc.relation
International Journal Of Environmental Research And Public Health;17(18)
dc.relation
https://www.mdpi.com/1660-4601/17/18/6590
dc.rights
Attribution 4.0 International
dc.rights
http://creativecommons.org/licenses/by/4.0/
dc.rights
info:eu-repo/semantics/openAccess
dc.subject
Malalties rares
dc.subject
Malalties congènites
dc.subject
Enzims - Ús terapèutic
dc.subject
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Drug Therapy::Enzyme Therapy::Enzyme Replacement Therapy
dc.subject
DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Genetic Diseases, X-Linked::Mental Retardation, X-Linked::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Mucopolysaccharidosis II
dc.subject
DISEASES::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Rare Diseases
dc.subject
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::farmacoterapia::terapia enzimática::tratamiento de sustitución enzimática
dc.subject
ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades genéticas ligadas al cromosoma X::retraso mental ligado al cromosoma X::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::mucopolisacaridosis II
dc.subject
ENFERMEDADES::afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::enfermedades raras
dc.title
The Value of Case Reports in Systematic Reviews from Rare Diseases. The Example of Enzyme Replacement Therapy (ERT) in Patients with Mucopolysaccharidosis Type II (MPS-II)
dc.type
info:eu-repo/semantics/article
dc.type
info:eu-repo/semantics/publishedVersion
