Search results for "gnosi"

Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.

2017

Interpretation of variants of uncertain significance, especially chromosomal rearrangements in non-coding regions of the human genome, remains one of the biggest challenges in modern molecular diagnosis. To improve our understanding and interpretation of such variants, we used high-resolution three-dimensional chromosomal structural data and transcriptional regulatory information to predict position effects and their association with pathogenic phenotypes in 17 subjects with apparently balanced chromosomal abnormalities. We found that the rearrangements predict disruption of long-range chromatin interactions between several enhancers and genes whose annotated clinical features are strongly …

Pathophysiology of Peripheral Arterial Disease (PAD): A Review on Oxidative Disorders

2020

Peripheral arterial disease (PAD) is an atherosclerotic disease that affects a wide range of the world’s population, reaching up to 200 million individuals worldwide. PAD particularly affects elderly individuals (>65 years old). PAD is often underdiagnosed or underestimated, although specificity in diagnosis is shown by an ankle/brachial approach, and the high cardiovascular event risk that affected the PAD patients. A number of pathophysiologic pathways operate in chronic arterial ischemia of lower limbs, giving the possibility to improve therapeutic strategies and the outcome of patients. This review aims to provide a well detailed description of such fundamental issues as physical exe…

Return and Disclosure of Research Results: Parental Attitudes and Needs Over Time in Pediatric Oncology.

2017

Objectives To explore parental attitudes regarding the return and disclosure of research findings in pediatric cancer trials over time. Study design Two surveys were set up to evaluate the stability of parental attitudes. One survey was carried out among 581 parents whose child was diagnosed recently (response rate, 53.5%). A second, population-based survey was set up with a time interval of 4 years between first cancer diagnosis and survey in which 1465 parents were included (response rate, 55.1%). Results Almost all surveyed parents stated a parental right to receive aggregate research results. Fifty-five percent of the parents who recently participated in trials and 62% of those asked af…

A rare association of chronic lymphocytic leukemia with c-ANCA-positive Wegener’s granulomatosis: a case report

2016

Background Wegener’s granulomatosis is a systemic vasculitis of the small- and medium-sized vessels, produced by the action of ANCA, which involves the respiratory tract, kidneys, and eyes, with a potential for lethal evolution in the first year after diagnosis. Its association with chronic lymphocytic leukemia is rarely described in the literature, and it may be difficult to diagnose and to treat this association. Case presentation We present the case of a 73-year-old Caucasian patient, a rare case in which Wegener’s granulomatosis is associated in a patient with chronic lymphocytic leukemia, who is admitted in the Infectious Disease Department for fever, diplopia, headache, purulent and h…

Mass Spectrometry Imaging Differentiates Chromophobe Renal Cell Carcinoma and Renal Oncocytoma with High Accuracy

2020

Background: While subtyping of the majority of malignant chromophobe renal cell carcinoma (cRCC) and benign renal oncocytoma (rO) is possible on morphology alone, additional histochemical, immunohistochemical or molecular investigations are required in a subset of cases. As currently used histochemical and immunohistological stains as well as genetic aberrations show considerable overlap in both tumors, additional techniques are required for differential diagnostics. Mass spectrometry imaging (MSI) combining the detection of multiple peptides with information about their localization in tissue may be a suitable technology to overcome this diagnostic challenge. Patients and Methods: Formalin…

Disparate miRNA expression in serum and plasma of patients with acute myocardial infarction: a systematic and paired comparative analysis

2020

AbstractDespite the promising value of miRNAs in the diagnostic and prognostic of cardiovascular disease (CVD), recent meta-analyses did not support their potential. Methodological variances in studies may interfere with miRNA profile and affect their results. This study determines if the blood starting material is a source of variance in miRNA profile by performing a paired comparison in plasma and serum of the expression of primary miRNAs associated with CVD. Circulating miRNA yield was similar in both plasma and serum, although a significant increase was observed in patients with Non-ST-elevation myocardial infarction (NSTEMI) compared to control volunteers. When normalized by the expres…

Brain-Derived Neurotrophic Factor as a Marker of Cognitive Frailty.

2016

A REST-based framework to support non-invasive and early coeliac disease diagnosis

2019

The health sector has traditionally been one of the early adopters of databases, from the most simple Electronic Health Record (formerly Computer-Based Patient Record) systems in use in general practice, hospitals and intensive care units to big data, multidata based systems used to support diagnosis and care decisions. In this paper we present a framework to support non-invasive and early diagnosis of coeliac disease. The proposed framework makes use of well-known technologies and techniques, both hardware and software, put together in a novel way. The main goals of our framework are: (1) providing users with a reliable and fast repository of a large amount of data; (2) to make such reposi…

Use of Troponin as a predictor for cardiovascular diseases in patients with type 2 Diabetes Mellitus

2020

People with type 2 diabetes mellitus (T2DM) have two- to four-fold increased cardiovascular mortality in comparison to the general population. With the identification of new therapeutic targets and hypoglycemic drugs for T2DM, the need for a better stratification of CVD risk has emerged to select patients who may need intensive or specific treatment. At present, risk stratification is based on clinical, demographic, and biochemical factors. High sensitivity cardiac troponin (hs-cTn) increases after several ischemic and non-ischemic insults and it is considered a marker of myocardial injury. This review summarizes the main findings about hs-cTn utilization for risk stratification in people w…

AISF position paper on nonalcoholic fatty liver disease (NAFLD): Updates and future directions

2017

Abstract This review summarizes our current understanding of nonalcoholic fatty liver disease (NAFLD), a multi-factorial systemic disease resulting from a complex interaction between a specific genetic background and multiple environmental/metabolic “hits”. The role of gut microbiota, lipotoxicity, inflammation and their molecular pathways is reviewed in-depth. We also discuss the epidemiology and natural history of NAFLD by pinpointing the remarkably high prevalence of NAFLD worldwide and its inherent systemic complications: hepatic (steatohepatitis, advanced fibrosis and cirrhosis), cardio-metabolic (cardiovascular disease, cardiomyopathy, arrhythmias and type 2 diabetes) and neoplastic (…