Prefronto-cerebellar neuromodulation affects appetite in obesity

Human neuroimaging studies have consistently reported changes in cerebellar function and integrity in association with obesity. To date, however, the nature of this link has not been studied directly. Emerging evidence suggests a role for the cerebellum in higher cognitive functions through reciprocal connections with the prefrontal cortex. The purpose of this exploratory study was to examine appetite changes associated with noninvasive prefronto-cerebellar neuromodulation in obesity. 12 subjects with class I obesity (mean BMI 32.9 kg/m2) underwent a randomized, single-blinded, sham-controlled, crossover study, during which they received transcranial direct current stimulation (tDCS; active/sham) aimed at simultaneously enhancing the activity of the prefrontal cortex and decreasing the activity of the cerebellum. Changes in appetite (state and food-cue-triggered) and performance in a food-modified working memory task were evaluated. We found that active tDCS caused an increase in hunger and desire to eat following food-cue exposure. In line with these data, subjects also tended to make more errors during the working memory task. No changes in basic motor performance occurred. This study represents the first demonstration that prefronto-cerebellar neuromodulation can influence appetite in individuals with obesity. While preliminary, our findings support a potential role for prefronto-cerebellar pathways in the behavioral manifestations of obesity

The burden of hospital malnutrition in Spain: methods and development of the PREDyCES® study

It is well known that hospital malnutrition is a highly prevalent condition associated to increase morbidity and mortality as well as related healthcare costs. Although previous studies have already measured the prevalence and/or costs of hospital nutrition in our country, their local focus (at regional or even hospital level) make that the true prevalence and economic impact of hospital malnutrition for the National Health System remain unknown in Spain. The PREDyCES® (Prevalence of hospital malnutrition and associated costs in Spain) study was aimed to assess the prevalence of hospital malnutrition in Spain and to estimate related costs. Some aspects made this study unique: a) It was the first study in a representative sample of hospitals of Spain; b) different measures to assess hospital malnutrition (NRS2002, MNA as well as anthropometric and biochemical markers) where used both at admission and discharge and, c) the economic consequences of malnutrition where estimated using the perspective of the Spanish National Health System.Es bien sabido que la desnutrición hospitalaria es un proceso altamente prevalente asociado al aumento de la morbilidad y mortalidad, así como a elevados costes sanitarios. Aunque estudios previos han medido la prevalencia y/o los costes de la nutrición hospitalaria en nuestro país, su enfoque local (regional o incluso a nivel hospitalario) hacen que la verdadera prevalencia e impacto económico de la desnutrición hospitalaria para el Sistema Nacional de Salud sean aún desconocidos en España. El objetivo del estudio PREDyCES® (Prevalencia de la Desnutrición hospitalaria y los Costes asociados en ESpaña) fue evaluar la prevalencia de la desnutrición hospitalaria en España y estimar sus costes asociados. Algunos aspectos de este estudio lo hicieron singular: a) Fue el primer estudio de este tipo con una muestra representativa de los hospitales de España, b) se utilizaron diferente medidas para evaluar la desnutrición hospitalaria (NRS 2002, MNA, así como marcadores antropométricos y bioquímicos) tanto en el momento del ingreso como al alta hospitalaria y, c) se estimaron las consecuencias económicas de la desnutrición desde la perspectiva del Sistema Nacional de Salud español

Prevalence and costs of multinutrution in hospitalized patients; the PREDyCES study

Justificación y objetivos: El estudio PREDyCES® tuvo dos objetivos principales. Primero, analizar la prevalencia de desnutrición hospitalaria (DH) en España tanto al ingreso como al alta, y segundo, estimar sus costes asociados. Métodos: Estudio nacional, transversal, observacional, multicéntrico, en condiciones de práctica clínica habitual que evaluó la presencia de desnutrición hospitalaria al ingreso y al alta mediante el NRS-2002®. Una extensión del estudio analizó la incidencia de complicaciones asociadas a la desnutrición, el exceso de estancia hospitalaria y los costes sanitarios asociados a la DH. Resultados: La prevalencia de desnutrición observada según el NRS-2002® fue del 23.7%. El análisis multivariante mostró que la edad, el género, la presencia de enfermedad oncológica, diabetes mellitus, disfagia y la polimedicación fueron los factores principales que se asociaron a la presencia de desnutrición. La DH se asoció a un incremento de la estancia hospitalaria, especialmente en aquellos pacientes que ingresaron sin desnutrición y que presentaron desnutrición al alta (15.2 vs 8.0 días; p < 0.001), con un coste adicional asociado de 5.829€ por paciente. Conclusiones: Uno de cada cuatro pacientes en los hospitales españoles se encuentra desnutrido. Esta condición se asocia a un exceso de estancia hospitalaria y costes asociados, especialmente en pacientes que se desnutren durante su hospitalización. Se debería generalizar el cribado nutricional sistemático con el objetivo de implementar intervenciones nutricionales de conocida eficacia.Background and aims: The main objective of the PREDyCES® study was twofold. First, to analyse the prevalence of hospital malnutrition in Spain, both at admission and at discharge, and second, to estimate the hospital costs associated with disease-related malnutrition. Methods: The study was a nationwide, cross-sectional, observational, multicentre study in routine clinical practice, which assessed the prevalence of hospital malnutrition both at patient admission and discharge using NRS- 2002®. A study extension analysed the incidence of complications associated with malnutrition, excess hospital stay and healthcare costs associated with hospital malnutrition. Results: Malnutrition was observed in 23.7% of patients according to NRS-2002®. Multivariate analysis revealed that age, gender, presence of malignant disease, diabetes mellitus, dysphagia and polymedication were the main factors associated with the presence of malnutrition. Malnutrition was associated with an increase in length of hospital stay, especially in patients admitted without malnutrition but who presented malnutrition at discharge (15.2 vs. 8.0 days, p < 0.001), with an associated additional cost of €5,829 per patient. Conclusion: In Spanish hospitals, almost one in four patients is malnourished. This condition is associated with increased length of hospital stay and associated costs, especially in patients developing malnutrition during hospitalization. Systematic screening for malnutrition should be generalised in order to implement nutritional interventions with well-known effectiveness

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

Altres ajuts: Instituto de Salud Carlos III (ISCIII); Ministerio de Ciencia e Innovación.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

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

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). The funders played no role in study design, data collection, data analysis, manuscript preparation and/or publication decisions