High Specificity of Quantitative Methylation-Specific PCR Analysis for MGMT Promoter Hypermethylation Detection in Gliomas

Normal brain tissue from 28 individuals and 50 glioma samples were analyzed by real-time Quantitative Methylation-Specific PCR (QMSP). Data from this analysis were compared with results obtained on the same samples by MSP. QMSP analysis demonstrated a statistically significant difference in both methylation level (P = .000009 Mann Whitney Test) and frequencies (P = .0000007, Z-test) in tumour samples as compared with normal brain tissues. Although QMSP and MSP showed similar sensitivity, the specificity of QMSP analysis was significantly higher (93%; CI95%: 84%–100%) as compared with MSP (64%; 95%CI: 46%–82%). Our results suggest that QMSP analysis may represent a powerful tool to identify glioma patients that will benefit from alkylating agents chemotherapy

A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

A female offspring of consanguineous parents, showed features of Wiskott-Aldrich syndrome (WAS), including recurrent infections, eczema, thrombocytopenia, defective T cell proliferation and chemotaxis, and impaired natural killer cell function. Cells from this patient had undetectable WAS protein (WASP), but normal WAS sequence and messenger RNA levels. WASP interacting protein (WIP), which stabilizes WASP, was also undetectable. A homozygous c.1301C>G stop codon mutation was found in the WIPF1 gene, which encodes WIP. Introduction of WIP into the patient’s T cells restored WASP expression. These findings indicate that WIP deficiency should be suspected in patients with features of WAS in whom WAS sequence and mRNA levels are normal

Risk factors for endocrine complications in transfusion-dependent thalassemia patients on chelation therapy with deferasirox: a risk assessment study from a multicentre nation-wide cohort

Transfusion-dependent patients typically develop iron-induced cardiomyopathy, liver disease, and endocrine complications. We aimed to estimate the incidence of endocrine disorders in transfusion-dependent thalassemia (TDT) patients during long-term iron-chelation therapy with deferasirox (DFX).We developed a multicentre follow-up study of 426 TDT patients treated with once-daily DFX for a median duration of 8 years, up to 18.5 years. At baseline, 118, 121, and 187 patients had 0, 1, or ≥2 endocrine diseases respectively. 104 additional endocrine diseases were developed during the follow-up. The overall risk of developing a new endocrine complication within 5 years was 9.7% (95%CI=6.3-13.1). Multiple Cox regression analysis identified 3 key predictors: age showed a positive log-linear effect (adjusted HR for 50% increase=1.2, 95%CI=1.1-1.3, P=0.005), the serum concentration of thyrotropin (TSH) showed a positive linear effect (adjusted HR for 1 mIU/L increase=1.3, 95%CI=1.1-1.4, P

Out-of-hospital cardiac arrest due to idiopathic ventricular fibrillation in patients with normal electrocardiograms:results from a multicentre long-term registry

AIMS : To define the clinical characteristics and long-term clinical outcomes of a large cohort of patients with idiopathic ventricular fibrillation (IVF) and normal 12-lead electrocardiograms (ECGs). METHODS AND RESULTS: Patients with ventricular fibrillation as the presenting rhythm, normal baseline, and follow-up ECGs with no signs of cardiac channelopathy including early repolarization or atrioventricular conduction abnormalities, and without structural heart disease were included in a registry. A total of 245 patients (median age: 38 years; males 59%) were recruited from 25 centres. An implantable cardioverter-defibrillator (ICD) was implanted in 226 patients (92%), while 18 patients (8%) were treated with drug therapy only. Over a median follow-up of 63 months (interquartile range: 25-110 months), 12 patients died (5%); in four of them (1.6%) the lethal event was of cardiac origin. Patients treated with antiarrhythmic drugs only had a higher rate of cardiovascular death compared to patients who received an ICD (16% vs. 0.4%, P = 0.001). Fifty-two patients (21%) experienced an arrhythmic recurrence. Age ≤16 years at the time of the first ventricular arrhythmia was the only predictor of arrhythmic recurrence on multivariable analysis [hazard ratio (HR) 0.41, 95% confidence interval (CI) 0.18-0.92; P = 0.03]. CONCLUSION : Patients with IVF and persistently normal ECGs frequently have arrhythmic recurrences, but a good prognosis when treated with an ICD. Children are a category of IVF patients at higher risk of arrhythmic recurrences

Hip Prostheses Computational Modeling: FEM simulations integrated with fatigue mechanical tests.

Hip prosthetic implants represent a consolidated and successful solution to re-store functional gait in patients affected by a wide range of disease including os-teoarthritis degeneration processes, cancer effects, osteoporosis, traumatic injuries. While at the beginning of the worldwide dissemination of this joint replacement methodology the target patients were mainly part of a quite old population, char-acterized by moderate physical activity and only asking for restoring of an accept-able quality of life and of functional gait and standing, the scenario significantly changed along the years. Nowadays, hip implants are also used to treat young and active patients; moreover, the amount of expected life years is more and more in-creasing; and, last but not least, the average body mass of western populations is increasing as well. As an overall consequence of the above changes, hip implants need to be highly performing: they have to cope with many years of repetitive high stresses not only due to regular locomotor daily activities but also to sports, excessive loading, wear and ageing effects. It is thus of extremely relevance for Researchers, Industry, Health Authorities and Users, to gain deeper and deeper knowledge of mechanical properties and performance of hip prosthesis compo-nents, and behavior of the musculo-skeletal system which hosts the implant. Po-tentially dangerous conditions should be clearly identified and investigated so as to prevent implant structural failure, being implant revision highly demanding for patients and health structures in terms of worsening of health status and increase of overall assistance costs. The present chapter investigates the potentialities of re-search studies in the field of hip implants biomechanics which rely on a synergy between FE modeling and experimental mechanical fatigue tests and whose main goal is to infer about related risks. An example of the implemented methodology is described, and few practical applications are reported, analyzed and commented from clinical, biomechanical and regulatory point of view

The S.E.A. (Security for marine Environment and Aquaculture) project: Advanced production and processing, food security and sustainable aquaculture

This paper is a brief description of the S.E.A. (Security for marine Environment and Aquaculture) project and its current status