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

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.

Aportes de la espectroscopía por resonancia magnética en las lesiones cerebrales / The contribution of the Magnetic Resonance Spectroscopy in the brain lesions Introduction

Introducción: La Espectroscopía por Resonancia Magnética (ERM) es una técnica no invasiva que permite un análisis del metabolismo de las lesiones o del tejido normal, aumentando la especificidad del método. De esta manera, a la información morfológica aportada por las imágenes de resonancia magnética (RM) se le suma la información bioquímica que brinda la ERM. Si bien el "gold standard" para establecer el diagnóstico definitivo de una lesión cerebral sigue siendo la biopsia, la ERM es un método no invasivo y libre de complicaciones que posibilita determinar el tipo de lesión y evitar biopsias innecesarias en procesos no tumorales. El objetivo del presente trabajo es comprobar si la ERM monovóxel protón de hidrógeno (H+) de tiempo de eco (TE) largo es capaz de discriminar la naturaleza tumoral o no de las lesiones cerebrales y clasificarlas en grados de malignidad. Material y método: Se trata de un estudio prospectivo en el que se incluyó a pacientes de ambos sexos y de distintas edades a los que se les realizó un estudio estándar de RM completado con ERM monovoxel. Resultados: Se analizaron 47 lesiones y se caracterizaron adecuadamente 43 (92,9%), con una sensibilidad (S) del 96,8% (IC 89-100), una especificidad (E) del 89,6% (IC 76-100), un valor predictivo positivo (VPP) del 91,1% (IC 80-100) y un valor predictivo negativo (VPN) del 96,3% (IC 87-100). Muchas son las variables que influyen en la adquisición de un espectro factible de ser analizado, pudiendo surgir de éstas diferencias inter-observador. Sin embargo, se obtuvieron resultados similares a los de otras publicaciones. Conclusión: La ERM sumada a la RM demostró ser un método confiable para determinar la naturaleza tumoral o no de una lesión cerebral, con valores estadísticos aceptables.

The Magnetic Resonance Spectroscopy (MRS) is a non-invasive technique which allows study of the metabolism of lesions or of normal tissue, increasing the method's specificity. In this way, the biochemical information provided by MRS is added to the morphologic information provided by the Magnetic Resonance Imaging (MRI). Even though the gold standards to determine the definite diagnosis of a brain lesion is still the biopsy, the MRS is a non-invasive method, free of complications which would help determine the type of lesion and avoid unnecessarybiopsies in non-tumor processes. The objective of this work is to determine if the monovoxel MRS hydrogen proton (H+) long Eco Time (TE) is capable to differentiating or not the nature of the tumor from the brain lesions and classify them into levels of malignity. Material and Method: This is a retrospective study in which female and male patients of any ages were selected. A standard study of MRI was performed in them and it was completed with monovoxel ERM. Results: 47 lesions were analyzed and 43 (92.9%) were adequately characterized, with a sensibility (S) of 96.8% (IC 89-100), specificity (E) of 89.6% (IC 76-100), positive predictive value (PPV) of 91.1% (IC 80-100) and a negative predictive value (NPV) of 96.3% (IC 87-100). There are many variables that can influence the acquisition of a spectrum capable of being analyzed and from them, inter-observer differences can emerge. However, our results were similar to those in other publications. Conclusion: The MRS together with the MRI proved to be a reliable method to determine whether a brain lesion is a tumor or not, with acceptable statistic values.