2,821 research outputs found
Cooperative Learning In Virtual Environments: The Jigsaw Method In Statistical Courses
This document sets out a novel teaching methodology as used in subjects with statistical content, traditionally regarded by students as difficult. In a virtual learning environment, instructional techniques little used in mathematical courses were employed, such as the Jigsaw cooperative learning method, which had to be adapted to the peculiarities of the subject. The aim of this methodological project is to adapt the teaching of statistical courses to the new European Higher Education Area
Optimizing the timing of nephrology referral for patients with diabetic kidney disease
Diabetis mellitus; Malaltia renal diabètica; Atenció multidisciplinàriaDiabetes mellitus; Diabetic kidney disease; Multidisciplinary careDiabetes mellitus; Enfermedad renal diabética; Atención multidisciplinariaAge-standardized rates of diabetes mellitus (DM)-related complications, such as acute myocardial infarction, stroke or amputations, have decreased in recent years, but this was not associated with a clear reduction of the incidence of advanced chronic kidney disease (CKD) requiring renal replacement therapy. The early detection of diabetic kidney disease (DKD) is a key to reduce complications, morbidity and mortality. Consensus documents and clinical practice guidelines recommend referral of DM patients to nephrology when the estimated glomerular filtration rate falls below 30 mL/min/1.73 m2 or when albuminuria exceeds 300 mg/g urinary creatinine. Conceptually, it strikes as odd that patients with CKD are referred to the specialist caring for the prevention and treatment of CKD only when >70% of the functioning kidney mass has been lost. The increasing global health burden of CKD, driven in large part by DKD, the suboptimal impact of routine care on DKD outcomes as compared with other DM complications, the realization that successful therapy of CKD requires early diagnosis and intervention, the advances in earlier diagnosis of kidney injury and the recent availability of antidiabetic drugs with a renal mechanism of action and lack of hypoglycaemia risk, which additionally are cardio- and nephroprotective, all point towards a paradigm shift in the care for DM patients in which they should be referred earlier to nephrology as part of a coordinated and integrated care approach.Sources of support: FIS/Fondos FEDER PI18/01386, PI19/00588, PI19/00815, DTS18/00032, ERA-PerMed-JTC2018 (KIDNEY ATTACK AC18/00064 and PERSTIGAN AC18/00071, ISCIII-RETIC REDinREN RD016/0009), Sociedad Española de Nefrología, FRIAT, Comunidad de Madrid en Biomedicina B2017/BMD-3686 CIFRA2-CM
Método de obtención de datos útiles para el diagnóstico de neoplasias de células T.
La presente invención se encuadra dentro del campo de la biología molecular y la medicina. Específicamente se refiere a un método para obtener datos útiles para el diagnóstico de neoplasias de células T. Asimismo, la presente invención se refiere a un método de diagnóstico de neoplasias de células T. Además, la presente invención se refiere a un kit para llevar a cabo dichos métodos.REIVINDICACIONES: 1. Método de obtención de datos útiles para el diagnóstico de neoplasias de células T que comprende:
a. obtención de una muestra biológica aislada,
b. análisis de la cantidad del producto de la expresión del gen ANXA1 en la muestra obtenida en (a) y
c. comparación de la cantidad detectada en el paso (b) con una cantidad de referencia.
2. Método de diagnóstico de neoplasias de células T que comprende los pasos (a) - (c) según la reivindicación 1, que además comprende un paso:
d. asignación de la desviación observada en el paso (c) con la presencia de una neoplasia de células T.
3. Método según la reivindicación 2 donde en el paso (d) una cantidad detectada en el paso (b) del producto de expresión del gen ANXA1 menor que la cantidad de referencia con la que se compara en el paso (c) es indicativa de la presencia de una neoplasia de células T.
4. Método según cualquiera de las reivindicaciones 1 a 3 donde la neoplasia de células T es un linfoma linfoblástico de tipo T.
5. Método según la reivindicación 4 donde el linfoma linfoblástico de tipo T tiene el inmunofenotipo CD4+ CD8+.
6. Método según las reivindicaciones 1 a 5 donde la muestra biológica es del timo o de los ganglios linfáticos.
7. Método según la reivindicación 6 donde la muestra biológica es del timo.
8. Método según cualquiera de las reivindicaciones 1 a 7 donde el análisis de la cantidad del producto de la expresión del gen de ANXA1 se realiza en el estroma de la muestra o en una fracción enriquecida en células del mismo.
9. Kit para llevar a cabo el método según cualquiera de las reivindicaciones 1 a 8 que comprende los elementos necesarios para:
a. análisis de la cantidad producto de la expresión del gen ANXA1 en la muestra obtenida y
b. comparación de la cantidad detectada en el paso (a) con una cantidad de referencia.
10. Kit según la reivindicación 9 que además comprende las instrucciones para llevar a cabo el método según cualquiera de las reivindicaciones 1 a 8.Cuando una patente se hace internacional, se puede encontrar en el idioma de cada país en que se ha solicitado. En Espacenet se tiene acceso a los documentos en cada idioma.Universidad Autónoma de Madrid; Instituto de Salud Carlos IIISolicitud de patent
Prostaglandina E2 para la prevención o el tratamiento de linfomas linfoblásticos.
Prostaglandina E2 para la prevención o el tratamiento de linfomas linfoblásticos.
La presente invención se encuadra dentro del campo de la biología molecular y la medicina. Específicamente, se refiere al uso de la prostaglandina E2 (PGE2) o cualquiera de sus sales, derivados o análogos biológicamente activos, o cualquiera de sus combinaciones, para la elaboración de un medicamento para la prevención o el tratamiento del linfoma linfoblástico. REIVINDICACIONES: 1. Uso de la prostaglandina E2 (PGE2) o cualquiera de sus sales, derivados o análogos biológicamente activos, o cualquiera de sus combinaciones, para la elaboración de un medicamento para la prevención o el tratamiento del linfoma linfoblástico.
2. Uso según la reivindicación 1 donde el linfoma linfoblástico es de tipo T.
3. Uso según la reivindicación 2 donde el linfoma linfoblástico de tipo T tiene el inmunofenotipo CD4+ CD8+.
4. Uso según la reivindicación 3 donde el linfoma linfoblástico de tipo T tiene el inmunofenotipo CD4+ CD8+ CD3/ow.
5. Uso según cualquiera de las reivindicaciones 1 a 4 donde existe una deficiencia de ANXA1 en el estroma del timo o de los ganglios linfáticos.
6. Uso según la reivindicación 5 donde existe una deficiencia de ANXA1 en el estroma del timo.
7. Uso de una composición farmacéutica que comprende PGE2 o cualquiera de sus sales, derivados o análogos biológicamente activos, o cualquiera de sus combinaciones, según cualquiera de las reivindicaciones 1 a 6.
8. Uso de la composición farmacéutica según la reivindicación 7 que comprende además un vehículo farmacéuticamente aceptable.
9. Uso de una preparación combinada que comprende, al menos, una composición farmacéutica según cualquiera de las reivindicaciones 7 u 8 y otro principio activo para su uso por separado, simultáneo ó secuencial. Cuando una patente se hace internacional, se puede encontrar en el idioma de cada país en que se ha solicitado. En Espacenet se tiene acceso a los documentos en cada idioma.Instituto de Salud Carlos III; Universidad Autónoma de MadridSolicitud de patent
Gene Editing in Adult Hematopoietic Stem Cells
Over the last years, an important development has allowed the scientific community to address a precise and accurate modification of the genome. The first probe of concept appeared with the design and use of engineered zinc-finger nucleases (ZFNs), which was expanded later on with the discovery and engineering of meganucleases and transcription activator-like effector nucleases (TALENs) and finally democratized and made easily available to the whole scientific community with the discovery of the clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 nuclease combination technology. The availability of these tools has allowed a precise gene editing, such as knockout of a specific gene or the correction of a defective gene by means of homologous recombination (HR), taking advantage of the endogenous cell repair machinery. This process was already known and used but was inefficient—efficiency that has been increased more than 100-fold with the addition of the mentioned specific nucleases to the process. Apart from the proper design of the nucleases to recognize and cut the selected site in the cell genome, two main goals need to be adequately addressed to optimize its function: the delivery of the tools into the desired cells and the selection of those where the gene editing process has occurred correctly. Both steps can be easily solved when the source of cells is extensive or can be expanded and manipulated in vitro extensively, such as immortalized cell lines or pluripotent stem cells (embryonic stem cells and induced pluripotent stem cells). However, both steps are critical in the case of primary cells, such as the hematopoietic stem cells (HSCs). HSCs are a rare cell population present in the bone marrow (BM) of higher mammals, and it is the responsible for the maintenance and replenishment of all hematopoietic cells for the lifespan of the animals by means of two fundamental properties: self-renewal and multipotency. HSC population is then the ideal target for the correction of hematopoietic genetic diseases and also for the knockout of the responsible genes to in vitro and in vivo model those hematopoietic diseases. This rare population cannot be expanded and its in vitro manipulation and culture negatively affects their fundamental properties of self-renewal and multipotency. These factors challenge the application of gene editing to HSCs. Important efforts are now ongoing trying to optimize the protocols of gene delivery and selection for HSCs. This chapter will review and discuss how researchers are trying to solve them, all attempts that are ongoing and the potential application of the technology to the patients affected with hematopoietic genetic diseases
A new tool for the paediatric HIV research:general data from the Cohort of the SpanishPaediatric HIV Network (CoRISpe)
There are approximately from 1,100 to 1,200 HIV-infected children in a follow-up in Spain. In 2008 an open, multicentral, retrospective and prospective Cohort of the Spanish Paediatric HIV Network (CoRISpe) was founded. The CoRISpe is divided into the node 1 and node 2 representing geographically almost the whole territory of Spain. Since 2008 seventy-five hospitals have been participating in the CoRISpe. All the retrospective data of the HIV-infected children have been kept in the CoRISpe since 1995 and prospective data since 2008. In this article we are going to present the notion of CoRISpe, its role, the structure, how the CoRISpe works and the process how a child is transferred from Paediatric to Adults Units. The main objective of the CoRISpe is to contribute to furthering scientific knowledge on paediatric HIV infection by providing demographic, sociopsychological, clinical and laboratory data from HIV-infected paediatric patients. Its aim is to enable high-quality research studies on HIV-infected children
Proteomic Analysis in Seminal Plasma of Fertile Donors and Infertile Patients with Sperm DNA Fragmentation
Seminal plasma proteomics studies could represent a new approach for the determination of molecular elements driving male infertility, resulting in a better male infertility characterization. The aim of this study is to investigate proteomic differences in seminal plasma samples from fertile and infertile individuals. For that, semen samples were selected according to semen analysis, clinical pathology, and values of sperm DNA fragmentation (alkaline and neutral Comet assay and Sperm Chromatin Dispersion test). A total of 24 seminal plasma samples classified in four groups were processed: fertile donors (FD), recurrent miscarriage patients (RM), asthenoteratozoospermic patients (ATZ), and asthenoteratozoospermic patients with varicocele (ATZ-VAR). Results obtained by 2D-differential gel electrophoresis (2D-DIGE) revealed 26 spots significantly increased in fertile donors when compared to patient groups. Also, eight spots in the ATZ group and two in the ATZ-VAR group were decreased compared to the other groups. Twenty-eight proteins were identified by mass spectrometry (MS), most of them involved in metabolic and cellular processes and with a catalytic or binding function. Protein-protein interactions through Search Tool for the Retrieval of Interacting Genes/Proteins (STRING) tool suggest that a large part of them were associated with each other. Furthermore, most of them were associated with ubiquitin C, indicating that it could play an important regulation role, resulting in a potential male infertility biomarker
Prognostic factors of a lower CD4/CD8 ratio in long term viral suppression HIV infected children
CoRISpe (Cohorte Nacional de VIH pediátrica de la RED RIS).[Background] Combination antiretroviral therapy (cART) is associated with marked immune reconstitution. Although a long term viral suppression is achievable, not all children however, attain complete immunological recovery due to persistent immune activation. We use CD4/CD8 ratio like a marker of immune reconstitution.[Methods] Perinatal HIV-infected children who underwent a first-line cART, achieved viral suppression in the first year and maintained it for more than 5 years, with no viral rebound were included. Logistic models were applied to estimate the prognostic factors, clinical characteristics at cART start, of a lower CD4/CD8 ratio at the last visit.[Results] 146 HIV-infected children were included: 77% Caucasian, 45% male and 28% CDC C. Median age at cART initiation was 2.3 years (IQR: 0.5–6.2). 42 (30%) children received mono-dual therapy previously to cART. Time of undetectable viral load was 9.5 years (IQR: 7.8, 12.5). 33% of the children not achieved CD4/CD8 ratio >1. Univariate analysis showed an association between CD4/CD8 1 was not achieved in 33% of the children. Lower CD4 nadir and previous exposure to suboptimal therapy, before initiating cART, are factors showing independently association with a worse immune recovery (CD4/CD8 < 1).Peer reviewe
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations
<p>Abstract</p> <p>Background</p> <p>Usher Syndrome type II (USH2) is an autosomal recessive disorder, characterized by moderate to severe hearing impairment and retinitis pigmentosa (RP). Among the three genes implicated, mutations in the <it>USH2A </it>gene account for 74-90% of the USH2 cases.</p> <p>Methods</p> <p>To identify the genetic cause of the disease and determine the frequency of <it>USH2A </it>mutations in a cohort of 88 unrelated USH Spanish patients, we carried out a mutation screening of the 72 coding exons of this gene by direct sequencing. Moreover, we performed functional minigene studies for those changes that were predicted to affect splicing.</p> <p>Results</p> <p>As a result, a total of 144 DNA sequence variants were identified. Based upon previous studies, allele frequencies, segregation analysis, bioinformatics' predictions and <it>in vitro </it>experiments, 37 variants (23 of them novel) were classified as pathogenic mutations.</p> <p>Conclusions</p> <p>This report provide a wide spectrum of <it>USH2A </it>mutations and clinical features, including atypical Usher syndrome phenotypes resembling Usher syndrome type I. Considering only the patients clearly diagnosed with Usher syndrome type II, and results obtained in this and previous studies, we can state that mutations in <it>USH2A </it>are responsible for 76.1% of USH2 disease in patients of Spanish origin.</p
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