Search results for "HM"

Usefulness of longitudinal systolic strain and delayed enhancement cardiac magnetic resonance in depicting risk of supraventricular arrythmias in pat…

2022

Background: Myocarditis have variable clinical presentation, evolution and prognosis. Aim of our study was to evaluate the value of speckle tracking echocardiography and cardiac magnetic resonance (CMR) in the short-term prediction of supraventricular arrhythmias (SVA) in patients with acute myocarditis. Methods: Seventy patients (mean age 31±14 years old) with acute myocarditis and preserved left ventricular ejection fraction (LVEF) were enrolled. Longitudinal systolic strain (LS) of the left ventricle (LV), mechanical dispersion (MD) and CMR with quantitative measurement of delayed enhancement (DE) were performed in a subset of 43 patients. Logistic regression and ROC analysis were used t…

A semi-automatic approach for epicardial adipose tissue segmentation and quantification on cardiac CT scans

2019

Abstract Many studies have shown that epicardial fat is associated with a higher risk of heart diseases. Accurate epicardial adipose tissue quantification is still an open research issue. Considering that manual approaches are generally user-dependent and time-consuming, computer-assisted tools can considerably improve the result repeatability as well as reduce the time required for performing an accurate segmentation. Unfortunately, fully automatic strategies might not always identify the Region of Interest (ROI) correctly. Moreover, they could require user interaction for handling unexpected events. This paper proposes a semi-automatic method for Epicardial Fat Volume (EFV) segmentation a…

Phenotype and natural history of inherited neuropathies caused byHSJ1c.352+1G>A mutation

2015

Mutations in the HSJ1 ( Heat-Shock Protein J1 ) gene, also called DNAJB2 (DnaJ (Hsp40) homologue, subfamily B, member 2), have been recently described as a cause of hereditary neuropathies. The HSJ1 c.352+1G>A mutation in homozygote state has been reported as the causative mutation in a single family with autosomal recessive distal hereditary motor neuropathy (dHMN).1 Since then, two other families with different HSJ1 mutations have been described: one with a dHMN phenotype and the other with a Charcot-Marie-Tooth disease type 2 (CMT2) phenotype.2 We identified the HSJ1 c.352+1G>A mutation in 10 patients who underwent long-lasting follow-up. We describe their phenotype and clinical evolutio…

Biomarker discovery study of inflammatory proteins for colorectal cancer early detection demonstrated importance of screening setting validation

2018

Abstract Objectives Most studies identifying inflammatory markers for early detection of colorectal cancer (CRC) were conducted using clinically manifest cases. We aimed to identify circulating inflammatory biomarkers for early detection of CRC and validate them in both a clinical setting and a true screening setting. Study Design and Setting A total of 92 inflammatory proteins were quantified in baseline plasma samples from individuals clinically diagnosed with CRC and neoplasm-free controls matched on age and sex (training set). A multimarker panel was selected and evaluated in samples from another clinical setting (validation set C) and a screening setting (validation set S). Results In …

Hereditary angioedema with a mutation in the plasminogen gene

2017

Background Hereditary angioedema (HAE) with normal C1-INH (HAEnCI) may be linked to specific mutations in the coagulation factor 12 (FXII) gene (HAE-FXII) or functional mutations in other genes that are still unknown. We sought to identify and characterize a hitherto unknown type of HAE with normal C1-INH and without mutation in the F12 gene. Methods The study comprised analysis of whole-exome sequencing, Sanger sequencing, and clinical data of patients. Results We detected a mutation in the plasminogen (PLG) gene in patients with HAEnCI. The mutation c.9886A>G was located in exon 9 leading to the missense mutation p.Lys330Glu (K330E) in the kringle 3 domain of the PLG protein. The mutation…

Tralokinumab did not demonstrate oral corticosteroid-sparing effects in severe asthma

2018

Long-term oral corticosteroid (OCS) use in patients with severe asthma is associated with significant adverse effects.This 40-week, randomised, double-blind trial evaluated the OCS-sparing potential of tralokinumab in patients with severe, uncontrolled asthma requiring maintenance OCS treatment plus inhaled corticosteroids/long-acting β2-agonists. Overall, 140 patients were randomised to tralokinumab 300 mg or placebo (n=70 in each group) administered subcutaneously every 2 weeks. The primary end-point was percentage change from baseline in average OCS dose at week 40, while maintaining asthma control. Secondary end-points included proportion of patients with a prescribed maintenance OCS do…

Switching from omalizumab to mepolizumab: real-life experience from Southern Italy.

2020

Background: Current availability of several biologic treatments for severe asthma makes it possible to choose the most appropriate for each patient. Sometimes a good percentage of patients with severe asthma may be eligible for biologics that target either the allergic phenotype or the eosinophilic one, but not all respond to that selected as first choice. The aim of our real-life study was to assess whether, for patients with severe eosinophilic allergic asthma, not previously controlled by the anti-IgE omalizumab, the shift to another biologic targeting interleukin-5, such as mepolizumab, may represent a good therapeutic choice. Methods: A total of 41 consecutive patients with severe, per…

Lack of TERT promoter mutations in melanomas with extensive regression

2015

The Prognostic Value of Renal Function in Acute Pulmonary Embolism—A Multi-Centre Cohort Study

2018

Background Haemodynamic alterations caused by acute pulmonary embolism (PE) may affect multi-organ function including kidneys. This multi-centre, multinational cohort study aimed to validate the prognostic significance of estimated glomerular filtration rate (eGFR) and its potential additive value to the current PE risk assessment algorithms. Methods The post hoc analysis of pooled prospective cohort studies: 2,845 consecutive patients (1,424 M/1,421 F, 66 ± 17 years) with confirmed acute PE and followed up for 180 days. We tested prognostic value of pre-specified eGFR level ≤60 mL/min/1.73 m2 calculated on admission according to the Modification of Diet in Renal Disease study equation. Th…

The Social Phobia and Anxiety Inventory: Psychometric Properties in a Spanish Sample

2007

This study is a validation of the Spanish version of the Social Phobia and Anxiety Inventory using a nonclinical sample (198 participants) and a clinical sample (72 participants with social phobia). The factor structure and concurrent validity with Fear of Negative Evaluation and Social Avoidance and Distress scales were analyzed. The Social Phobia and Anxiety Inventory demonstrated good concurrent validity, showing statistically significant relationships with Fear of Negative Evaluation and Social Avoidance and Distress. Results confirmed the rationale for the division of the SPAI into two subscales. Results also demonstrated the utility of the Social Phobia and Anxiety Inventory for diff…