Diffusion-Weighted Magnetic Resonance Imaging in Peritoneal Carcinomatosis from Ovarian Cancer: Diagnostic performance in correlation with surgical findings.

Purpose Ovarian cancer (OC) is the commonest cause of death by gynaecological cancer in developed countries. Peritoneal carcinomatosis (PC) complete debulking without residual disease of >1 cm is the best prognostic predictor in advanced OC. PC is assessed with Computed tomography (CT). CT accuracy and cytoreduction success predictive ability are limited. PET/CT is not an imaging standard for PC. PC shows high signal foci in Diffusion-weighted magnetic resonance imaging (DWI MRI). We assessed the diagnostic performance (DP) and tumour burden correlation of Whole body DWI with background suppression MRI (WB-DWIBS/MRI) in PC of suspected OC using the Peritoneal Cancer Index (PCI), referring to cytoreduction surgery as the standard reference. Method Fifty patients with suspicion of disseminated OC underwent cytoreduction and WB-DWIBS/MRI. The PCI scores tumour burden (0–3) in 13 anatomical regions (global range of 0–39). Two radiologists (Rad1/Rad2) assessed the PCI preoperatively and with surgical findings. We evaluated regional and global DP, the interobserver agreement (Cohen´s kappa coefficient), statistical differences (McNemar test) and tumour burden (Pearson’s test). Results 72% (36/50) were epithelial OC and 78% (39/50) achieved complete cytoreduction. Global-PCI correlation was 0.762 (Rad1) with DP: Sensitivity 0.84, specificity 0.89, accuracy 0.89, and kappa 0.41. Average global-PCI was 7. The pelvis and right hypochondrium showed the highest positive rate and DP, while the intestinal regions presented the lowest. Previous studies reported higher sensitivity than CT or PET/CT, although only a few used the PCI. Conclusions WB-DWIBS/MRI is reliable to depict, quantify and to predict complete cytoreductive surgery in OC PC.pre-print2737 K

Non-Invasive Assessment of Pulmonary Vasculopathy

Right heart catheterization remains necessary for the diagnosis of pulmonary hypertension and, therefore, for the prognostic evaluation of patients with chronic heart failure. The non-invaSive Assessment of Pulmonary vasculoPathy in Heart failure (SAPPHIRE) study was designed to assess the feasibility and prognostic relevance of a non-invasive evaluation of the pulmonary artery vasculature in patients with heart failure and pulmonary hypertension. Patients will undergo a right heart catheterization, cardiac resonance imaging, and a pulmonary function test in order to identify structural and functional parameters allowing the identification of combined pre- and postcapillary pulmonary hypertension, and correlate these findings with the hemodynamic dataThis research was funded by European Regional Development Fund and the Carlos III Research Institute through a grant of the Health Strategy Action (PI17/01569).S

Velocity Dispersions and Stellar Populations of the Most Compact and Msssive early-Type Galaxies at Redshift similar to 1

We present Gran-Telescopio-Canarias/OSIRIS optical spectra of four of the most compact and massive early-type galaxies (ETGs) in the Groth Strip Survey at redshift z similar to 1, with effective radii R-e = 0.5-2.4 kpc and photometric stellarmasses M-star = (1.2-4) x 10(11)M(circle dot). We find that these galaxies have velocity dispersions sigma = 156-236 km s(-1). The spectra are well fitted by single stellar population models with approximately 1 Gyr of age and solar metallicity. We find that (1) the dynamical masses of these galaxies are systematically smaller by a factor of similar to 6 than the published stellarmasses using BRIJK photometry, and (2) when estimating stellarmasses as 0.7xM(dyn), a combination of passive luminosity fading with mass/size growth due to minor mergers can plausibly evolve our objects to match the properties of the local population of ETGs

Spanish multicenter real – life registry of retrievable vena cava filters (REFiVeC)

Background The treatment of venous thromboembolic disease the treatment of choice is systemic anticoagulation. However, the interruption of the inferior vena cava with filters has been recommended when anticoagulation fails or there is a contraindication. Due to the rising inferior vena cava filter (IVCF) complications, physicians are encouraged to retrieve them when there is no longer recommended. In daily practice, it may be a difficult close follow-up of these patients. In this study, the primary objective was to evaluate the IVCF retrieval rate of all implanted filters in a Spanish registry. Secondary objectives were to analyze the causes of failed retrieval, procedure-related complications, and outcomes at a 12-month follow-up. Results Three hundred fifty-six vena cava filters were implanted in 355 patients. The types of filter were: Gunther Tulip (Cook Medical) 160 (44.9%), Optease (Cordis) 77 (21.6%), Celect (Cook Medical) 49 (13, 7%), Aegisy (Lifetech Scientific) 33 (9.2%), Option ELITE (Argon Medical devices) 16 (4.4%), Denali filter (BD Bard) 11 (3.08%), ALN filter (ALN) 10 (2.8%). Removal was achieved in 274/356 (76,9%). eighty-two (23,1%) IVCF were not retrieved due to the following: 41 (11,5%) patients required ongoing filtration, 24 IVCF (6,7%) patients died before retrieval, and 17 (4,7%) impossibility of retrieval because of a tilted and embedded filter apex. There were no major complications observed. Conclusions The global retrieval rate of IVCF was achieved in 76.9%, and the adjusted retrieval rate was of 94.15% with no major complications. IVCF tilting was associated with failure of filter removal in less than 5% of cases. This study demonstrates that the retrieval procedure of IVCF is controlled by the clinician and not by the interventional radiologist

SALMANTICOR study. Rationale and design of a population-based study to identify structural heart disease abnormalities: a spatial and machine learning analysis

[EN]Introduction: This study aims to obtain data on the prevalence and incidence of structural heart disease in a population setting and, to analyse and present those data on the application of spatial and machine learning methods that, although known to geography and statistics, need to become used for healthcare research and for political commitment to obtain resources and support effective public health programme implementation. Methods and analysis: We will perform a cross-sectional survey of randomly selected residents of Salamanca (Spain). 2400 individuals stratified by age and sex and by place of residence (rural and urban) will be studied. The variables to analyse will be obtained from the clinical history, different surveys including social status, Mediterranean diet, functional capacity, ECG, echocardiogram, VASERA and biochemical as well as genetic analysis. Ethics and dissemination: The study has been approved by the ethical committee of the healthcare community. All study participants will sign an informed consent for participation in the study. The results of this study will allow the understanding of the relationship between the different influencing factors and their relative importance weights in the development of structural heart disease

Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

Genome-wide association studies have generated an increasing number of common genetic variants associated with neurological and psychiatric disease risk. An improved understanding of the genetic control of gene expression in human brain is vital considering this is the likely modus operandum for many causal variants. However, human brain sampling complexities limit the explanatory power of brain-related expression quantitative trait loci (eQTL) and allele-specific expression (ASE) signals. We address this, using paired genomic and transcriptomic data from putamen and substantia nigra from 117 human brains, interrogating regulation at different RNA processing stages and uncovering novel transcripts. We identify disease-relevant regulatory loci, find that splicing eQTLs are enriched for regulatory information of neuron-specific genes, that ASEs provide cell-specific regulatory information with evidence for cellular specificity, and that incomplete annotation of the brain transcriptome limits interpretation of risk loci for neuropsychiatric disease. This resource of regulatory data is accessible through our web server, http://braineacv2.inf.um.es/

Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset

Mitochondrial dysfunction has been implicated in the etiology of monogenic Parkinson’s disease (PD). Yet the role that mitochondrial processes play in the most common form of the disease; sporadic PD, is yet to be fully established. Here, we comprehensively assessed the role of mitochondrial function-associated genes in sporadic PD by leveraging improvements in the scale and analysis of PD GWAS data with recent advances in our understanding of the genetics of mitochondrial disease. We calculated a mitochondrial-specific polygenic risk score (PRS) and showed that cumulative small effect variants within both our primary and secondary gene lists are significantly associated with increased PD risk. We further reported that the PRS of the secondary mitochondrial gene list was significantly associated with later age at onset. Finally, to identify possible functional genomic associations we implemented Mendelian randomization, which showed that 14 of these mitochondrial functionassociated genes showed functional consequence associated with PD risk. Further analysis suggested that the 14 identified genes are not only involved in mitophagy, but implicate new mitochondrial processes. Our data suggests that therapeutics targeting mitochondrial bioenergetics and proteostasis pathways distinct from mitophagy could be beneficial to treating the early stage of PD

Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson's disease heritability

Parkinson’s disease (PD), with its characteristic loss of nigrostriatal dopaminergic neurons and deposition of α-synuclein in neurons, is often considered a neuronal disorder. However, in recent years substantial evidence has emerged to implicate glial cell types, such as astrocytes and microglia. In this study, we used stratified LD score regression and expression-weighted cell-type enrichment together with several brain-related and cell-type-specific genomic annotations to connect human genomic PD findings to specific brain cell types. We found that PD heritability attributable to common variation does not enrich in global and regional brain annotations or brain-related cell-type-specific annotations. Likewise, we found no enrichment of PD susceptibility genes in brain-related cell types. In contrast, we demonstrated a significant enrichment of PD heritability in a curated lysosomal gene set highly expressed in astrocytic, microglial, and oligodendrocyte subtypes, and in LoF-intolerant genes, which were found highly expressed in almost all tested cellular subtypes. Our results suggest that PD risk loci do not lie in specific cell types or individual brain regions, but rather in global cellular processes detectable across several cell types