Estudios de imagen en el diagnóstico de los hemangiomas y malformaciones vasculares

The diagnosis of haemangiomata and cutaneous vascular malformations is based on clinical history and physical exploration. Imaging studies might be necessary to clarify and confirm the diagnosis, and in order to analyse the extent of the lesions by permitting an evaluation of their non-visible component as well as the affection of neighbouring structures. Finally, they also play an important role when it comes to planning and directing treatment, whether surgical or endovascular. The imaging techniques employed for haemangiomas and vascular malformations include: plain films ultrasound (Doppler), computerised tomography (Angio-CT), magnetic resonance (Angio-MR) and the angiographic techniques (arteriography, phlebography)

Validity of a four-factor modelunderlying the physical fitness in adults with intellectual disabilities a confirmatory factor analysis

Purpose: To use confirmatory factor analysis to test whether a four factor might explain the clustering of the components of the physical fitness in adults with intellectual disabilities (FID). Relevance: Individuals with intellectual disabilities (ID) are significantly weaker than individuals without ID at all stages of life. These subjects might be particularly susceptible to loss of basic function because of poor physical fitness. Participants: We studied 267 adults with intellectual disability of the Spanish Special Olympics Games. Methods: The four-factor model included: the flexibility, the strength, the balance and the cardiorespiratory endurance with 9 variables of the fitness assessment. Analysis: The construct validity of the model was assessed through the factor loadings, interpreted as the correlation between the variables in the model and their underlying factor, which is the FID construct. Results: Factor loading were 0,55 for the passive knee extension, o,52 for Functional shoulder rotation, −0.71 for the timed-stand test, 0.58 for the grip test, 0.75 the single leg stance with eyes open, 0.69 single leg stance with eyes closed, 0.72 for the resting heart rate, 0.56 for the two-minute step test (2MST) 0,97 for 2 minutes after finish 2MST. The four-factor model also showed a good fit to the data, as indicated by a high comparative fit index (CFI=0,93) and a low standardized root mean square residual (SRMR=0,072) Conclusions: A four underlying factor has shown acceptable validity to represent FID Implications: The new model of FID can offer understanding better these construct in this special populationUniversidad de Málaga. Campus de Excelencia Internacional Andalucía Tech

DNA G-quadruplex structures mould the DNA methylome

Control of DNA methylation level is critical for gene regulation, and the factors that govern hypomethylation at CpG islands (CGIs) are still being uncovered. Here, we provide evidence that G-quadruplex (G4) DNA secondary structures are genomic features that influence methylation at CGIs. We show that the presence of G4 structure is tightly associated with CGI hypomethylation in the human genome. Surprisingly, we find that these G4 sites are enriched for DNA methyltransferase 1 (DNMT1) occupancy, which is consistent with our biophysical observations that DNMT1 exhibits higher binding affinity for G4s as compared to duplex, hemi-methylated or single-stranded DNA. The biochemical assays also show that the G4 structure itself, rather than sequence, inhibits DNMT1 enzymatic activity. Based on these data, we propose that G4 formation sequesters DNMT1 thereby protecting certain CGIs from methylation and inhibiting local methylation.This work is supported by a core CRUK award (C14303/A17197). S.B. is a Senior Investigator of the Wellcome Trust (grant no. 099232/z/12/z). JS is a Marie Curie Fellow of the European Union (747297-QAPs-H2020-MSCA-IF-2016)

Técnicas terapéuticas endovasculares

Percutaneous and endovascular techniques have shown their efficacy in the treatment of a great variety of pathologies. The advances in diagnostic imaging as well as the development of new materials have made it possible to carry out new procedures that were unthinkable not many years ago. The irruption of this new form of treating patients has had, is having, and will have a clear impact on the multidisciplinary approach to numerous diseases

Surgery and radioembolization of liver tumors

Surgical resection is considered the curative treatment par excellence for patients with primary or metastatic liver tumors. However, less than 40% of them are candidates for surgery, either due to nonmodifiable factors (comorbidities, age, liver dysfunction. . .), or to the invasion or proximity of the tumor to the main vascular requirements, the lack of a future liver remnant (FLR) adequate to maintain postoperative liver function, or criteria oftumor size and number. In these lastfactors, hepatic radioembolization has been shown to play a role as a presurgical tool, either by hypertrophy of the FLR or by reducing tumor size that manages to reduce tumor staging (term known as downstaging ¨ ¨ ). To these is added a third factor, which is its ability to apply the test oftime, which makes it possible to identify those patients who present progression of the disease in a short period of time (both locally and at distance), avoiding a unnecessary surgery. This paper aims to review RE as a tool to facilitate liver surgery, both through the experience of our center and the available scientific evidence.La resección quirúrgica se considera eltratamiento curativo por excelencia para los pacientes con tumores hepáticos primarios o metastásicos. Sin embargo, menos del 40% de ellos son candidatos a cirugía, ya sea por factores no modificables (comorbilidades, edad, disfunción hepática. . .), como por la invasión o proximidad del tumor a los principales pedículos vasculares, la falta de un futuro remanente hepático (FRH) adecuado para mantener una función hepática postoperatoria, o criterios de tamano˜ y numero tumoral. En estos últimos factores, la radioembolización hepática ha mostrado tener un papel como herramienta prequirúrgica, ya sea mediante la hipertrofia del FRH o mediante la reducción del tamano˜ tumoral que consigue disminuir la estadificación tumoral (término conocido como “downstaging”). A estos se suma un tercer factor, que es su capacidad de aplicar el test del tiempo, que permite identificar aquellos pacientes que presenten en un plazo corto de tiempo progresión de la enfermedad (tanto a nivel local como a distancia), evitándoles una cirugía innecesaria. En este trabajo se pretende hacer una revisión de la RE como herramienta facilitadora de la cirugía hepática, tanto a través de la experiencia de nuestro centro como de la evidencia científica disponible

Isolation of plant nuclei suitable for flow cytometry from species with extremely mucilaginous compounds: an example in the genus <i>Viola</i> L. (Violaceae)

Cires, E., Cuesta, C., Fernández, M.A., Nava, H.S., Vázquez, V.M. & Fernández, J.A. 2011. Isolation of plant nuclei suitable for flow cytometry from species with extremely mucilaginous compounds: an example in the genus Viola L. (Violaceae). Anales.Iard. Bot. Madrid 68(2): 139-154. Flow cytometry analysis has been widely appljed in the determination of nuclear DNA content and ploidy level in many organisms. Despite being the most appropriate method for DNA content measurement, flow cytometry also presents some limitations. A fairly common, but little-studied problem is the effect on measurements of the presente of secondary metabolites. A good example is the genus Viola, which is composed of 525-600 species distributed worldwide. These species have proved to be problematic for flow cytometric analyses due to the release of extremely mucilaginous compounds into the nuclear suspension. In this work, the genome size of 13 species of Viola using flow cytometry are presented for the first time. Despite obtaining histograms with high coefficients of variation, we here pre-sent an optimized protocol to remove cytoplasmic compounds, particularly mucilaginous ones, from plant nudei that paye the way for its application to estimate the genome size of other species exhibiting similar problems. Statistical analyses revealed significant differences between sections Viola and Melanium, and within each section (P < 0.001). Furthermore, statistically significant differences were not detected among samples of the same species.Cires, E., Cuesta, C., Fernández, M.A., Nava, H.S., Vázquez, V.M. & Fernández, J.A. 2011. Aislamiento de núcleos para citometría de flujo en plantas con alto contenido de compuestos mucilaginosos: un ejemplo en el género Viola L. (Violaceae). Anales.lard. Bot. Madrid 68(2): 139-154 (en inglés). El análisis mediante citometría de flujo ha sido aplicado de modo general para determinar el contenido de ADN nuclear y el nivel de ploidía en muchos organismos. A pesar de ser el método más adecuado para medir la cantidad de ADN, esta técnica también presenta algunas limitaciones. Un problema bastante común, aunque poco estudiado, es el efecto de los metabolitos secundarios en los resultados obtenidos. Un ejemplo respecto a la presencia de estos compuestos se encuentra en el género Viola, compuesto por 525-600 especies distribuidas por todo el mundo. Las especies de este género ya han sido previamente descritas como problemáticas en los análisis de citometría de flujo debido a la presencia de compuestos extremadamente mucilaginosos en las suspensiones de núcleos. En el presente trabajo se analiza por primera vez el tamaño genómico de 13 especies del genero Viola mediante el empleo de citometría de flujo. A pesar de los altos valores mostrados en los coeficientes de variación de los histogramas, se presenta un protocolo optimizado para eli-minar compuestos citoplasmáticos, y más concretamente mucilaginosos de las suspensiones nucleares, siendo de aplicación en la estimación del tamaño genómico de plantas con problemas similares. Los análisis estadísticos mostraron diferencias significativas entre las secciones Viola y Melanium, así como dentro de cada sección (P < 0,001). Además, no se encontraron diferencias significativas entre aquellas muestras pertenecientes a la misma especie

Synthesis and anti-HIV-1 activities of new pyrimido[5,4-b]indoles

A set of new pyrimido[5,4-b]indole derivatives that are structurally related to some non-nucleside HIV-1 reverse transcriptase inhibitors were synthesized and biologically evaluated for their activity as inhibitors of wild and mutant HIV-1 RT types in an 'in vitro' recombinant HIV-1 RT screening assay, as well as anti-infectives in HLT4lacZ-1IIIB cells. Preliminary structure-activity relationships suggest that activity is promoted by simultaneous substitution in positions 2 and 4, especially when chains of alkyldiamine type are present, and by electron-releasing substituents (methoxy) in positions 7 and 8. The inactivity or the very low activity of title derivatives does not suggest interest in AIDS therapy

Urinary exosomes reveal protein signatures in hypertensive patients with albuminuria

Albuminuria is an indicator of cardiovascular risk and renal damage in hypertensive individuals. Chronic renin-angiotensin system (RAS) suppression facilitates blood pressure control and prevents development of new-onset-albuminuria. A significant number of patients, however, develop albuminuria despite chronic RAS blockade, and the physiopathological mechanisms are underexplored. Urinary exosomes reflect pathological changes taking place in the kidney. The objective of this work was to examine exosomal protein alterations in hypertensive patients with albuminuria in the presence of chronic RAS suppression, to find novel clues underlying its development. Patients were followed-up for three years and were classified as: a) patients with persistent normoalbuminuria; b) patients developing de novo albuminuria; and c) patients with maintained albuminuria. Exosomal protein alterations between groups were identified by isobaric tag quantitation (iTRAQ). Confirmation was approached by target analysis (SRM). In total, 487 proteins were identified with high confidence. Specifically, 48 proteins showed an altered pattern in response to hypertension and/or albuminuria. Out of them, 21 proteins interact together in three main functional clusters: glycosaminoglycan degradation, coagulation and complement system, and oxidative stress. The identified proteins constitute potential targets for drug development and may help to define therapeutic strategies to evade albuminuria progression in hypertensive patients chronically treated.Instituto de Salud Carlos III, fondos FEDER/FSE (PI11/01401, PI13/01873, PI14/01841, IF08/3667-1, PI11-02239, PI 14/0917, PI11/02432, PI13/01746, PI14/01650, PI16/01334, PT13/0001/0013, CP09/00229, CP15/00129, CPII15/00027), Fundacion SENEFRO, Fundacion Conchita Rabago de Jimenez Diaz, and Redes Tematicas de Investigacion Cooperativa (fondos FEDER/FSE, RD12/0021/0001, RD12/0042/0071). These results are lined up with the Spanish initiative on the Human Proteome Project (SpHPP).S

Obstetric complications and genetic risk for schizophrenia: Differential role of antenatal and perinatal events in first episode psychosis

Background: Obstetric complications (OCs) are key contributors to psychosis risk. However, it is unclear whether they increase psychosis vulnerability independently of genetic risk, in interaction with it, or are a manifestation of psychosis proneness. We examined the role of distinct types of OCs in terms of psychosis risk and tested whether they interact differently with genetic vulnerability, whilst accounting for other known environmental risk factors. Study Design: 405 participants (219 first episode psychosis patients and 186 healthy volunteers) underwent a comprehensive assessment of OCs, measured using the Lewis-Murray scale and divided into complications of pregnancy, abnormalities of foetal growth and development, and complications of delivery. Participants were compared in terms of history of OCs, polygenic risk score for schizophrenia (PRS-SZ) and interactions between these. Results: Both complications of pregnancy and abnormalities of foetal growth were significantly associated with case–control status (p = 0.02 and 0.03, respectively), whereas complications of delivery were not. PRS-SZ showed a significant association with psychosis (p = 0.04), but there were no significant interactions between genetic risk for schizophrenia and OCs, either when these were considered globally or separated based on their timeframe. Conclusions: We observed no significant interaction between genetic and obstetric vulnerability, yet distinct types of OCs may have a different impact on psychosis risk, based on their nature and timeframe. Examining their differential role might clarify their relative contributions to this risk