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Integrated Analysis of Germline and Tumor DNA Identifies New Candidate Genes Involved in Familial Colorectal Cancer
(MDPI, 2019-03-13)
Colorectal cancer (CRC) shows aggregation in some families but no alterations in the known hereditary CRC genes. We aimed to identify new candidate genes which are potentially involved in germline predisposition to familial ...
Mediastinal abscess, an unusual way of presentation of eosinophilic esophagitis
(Biomed Central, 2019-02-28)
Eosinophilic esophagitis (EoE) is one of the most prevalent esophageal diseases and the leading cause of dysphagia and food impaction in children and young adults. EoE represents a chronic, local immune-mediated esophageal ...
Functional rare variants influence the clinical response to anti-TNF therapy in Crohn's disease
(Sage, 2019-09)
Background: The effect of low-frequency functional variation on anti-tumor necrosis factor alpha (TNF) response in Crohn's disease (CD) patients remains unexplored. The objective of this study was to investigate the impact ...
Identification of a Novel Candidate Gene for Serrated Polyposis Syndrome Germline Predisposition by Performing Linkage Analysis Combined With Whole-Exome Sequencing
(Lippincott Williams & Wilkins, 2019-09-19)
OBJECTIVES: Serrated polyposis syndrome (SPS) is a complex disorder with a high risk of colorectal cancer for which the germline factors remain largely unknown. Here, we combined whole-exome sequencing (WES) and linkage ...
Using linkage studies combined with whole-exome sequencing to identify novel candidate genes for familial colorectal cancer
(Wiley, 2019-11)
Colorectal cancer (CRC) is a complex disorder for which the majority of the underlying germline predisposition factors remain still unidentified. Here, we combined whole-exome sequencing (WES) and linkage analysis in ...
Soluble urokinase plasminogen activator receptor (suPAR) levels predict damage accrual in patients with recent-onset systemic lupus erythematosus
(Elsevier, 2019-10-17)
OBJECTIVE: The soluble urokinase plasminogen activator receptor (suPAR) has potential as a prognosis and severity biomarker in several inflammatory and infectious diseases. In a previous cross-sectional study, suPAR levels ...
Diastolic Dysfunction and Exercise Capacity in Patients with Metabolic Syndrome and Overweight/Obesity
(Elsevier, 2019-03)
Background: Left ventricle diastolic dysfunction (LVDD) is a common finding in high risk individuals, its presence being associated with reduced exercise capacity (EC). We assessed the prevalence of LVDD, applying the 2016 ...
Reassessing the Safety Profile of Lesinurad in Combination with Xanthine Oxidase Inhibitor Therapy
(Springer, 2019-03)
IntroductionThe rate of adverse renal events has been shown to be higher in patients treated with lesinurad plus a xanthine-oxidase inhibitor (XOI) than in patients treated only with a XOI. We reassessed the risks for ...
Evidence of conditioned behavior in amoebae
(Nature, 2019-08-15)
Associative memory is the main type of learning by which complex organisms endowed with evolved nervous systems respond efficiently to certain environmental stimuli. It has been found in different multicellular species, ...