Predictive genetic testing for complex diseases: a public health perspective.

From a public health perspective, systematic, evidence-based technology assessments and economic evaluations are needed to guide the incorporation of genomics into clinical and public health practice. However, scientific evidence on the effectiveness of predictive genetic tests is difficult to obtain. This review first highlights the similarities and differences between traditional screening tests and predictive genetic testing for complex diseases and goes on to describe frameworks for the evaluation of genetic testing that have been developed in recent years providing some evidence that currently genetic tests are not used in an appropriate way.

Rural and urban disparities in the evolution of sentinel lymph node utilization in breast cancer.

Background: Sentinel lymph node biopsy (SLNB) has become the preferred method for axillary nodal staging. The authors examined SLNB utilization in urban versus rural settings as this procedure was adopted and hypothesized that SLNB rates among urban populations increased faster, while the technology shift and acceptance of SLNB were slower at rural centers.

Methods: The Surveillance, Epidemiology and End Results database was used to identify patients with invasive node-negative ductal or lobular breast cancer diagnosed from 1998 to 2008.

Knowledge, attitudes and behavior of physicians regarding predictive genetic tests for breast and colorectal cancer.

Background: Genetic testing for cancer susceptibility is an emerging technology in medicine. This study assessed the knowledge, attitudes and professional behavior of Italian physicians regarding the use of predictive genetic tests for breast and colorectal cancer, including the BRCA1/2 and APC tests.

Methods: A cross-sectional survey of a random sample of Italian physicians was performed in 2010 through a self-administered questionnaire.

Extracellular sphingosine-1-phosphate: a novel actor in human glioblastoma stem cell survival.

Glioblastomas are the most frequent and aggressive intracranial neoplasms in humans, and despite advances and the introduction of the alkylating agent temozolomide in therapy have improved patient survival, resistance mechanisms limit benefits. Recent studies support that glioblastoma stem-like cells (GSCs), a cell subpopulation within the tumour, are involved in the aberrant expansion and therapy resistance properties of glioblastomas, through still unclear mechanisms. Emerging evidence suggests that sphingosine-1-phosphate (S1P) a potent onco-promoter able to act as extracellular signal, favours malignant and chemoresistance properties in GSCs.

Mean platelet volume is not associated with platelet reactivity and the extent of coronary artery disease in diabetic patients.

Platelets play a central role in the pathogenesis of coronary artery disease (CAD). Mean platelet volume (MPV) is an indicator of platelet activation, and has been demonstrated to be correlated with platelet reactivity. Diabetic patients have been shown to have larger MPV, that may contribute to higher platelet reactivity and atherothrombotic complications observed in these patients.

Cervical lymph node metastases from thyroid cancer: does thyroglobulin and calcitonin measurement in fine needle aspirates improve the diagnostic value of cytology?

Background: Measurement of thyroglobulin (Tg) protein in the washout of the needle used for fine needle aspiration biopsy cytology (FNAB-C) has been shown to increase the sensitivity of FNAB-C in identifying cervical lymph node (CLN) metastasis from well-differentiated thyroid cancer (TC). In this study, we evaluated whether routine measurement of Tg protein (FNAB-Tgp), Tg mRNA (FNAB-Tgm) and calcitonin (CT) mRNA (FNAB-CTm) in the FNAB washout of CLN increases the accuracy of FNAB-C in the diagnosis of suspicious metastatic CLN.

Methods: In this prospective study 35 CLN from 28 patients were examined.

Influenza vaccination recommended for all adults aged between 50 and 64 years: conceptual basis and methodological limitations.

In the first half of this year the experts of the Italian Society of Hygiene (SItI), along with those of other National Scientific Societies, agreed with the recommendations made by the USA CDC in 2009, and developed a proposal for a vaccination schedule (Vaccine Schedule for Life), in which influenza vaccination is recommended for all adults aged between 50 and 64 years. In the National Plan for Vaccinal Prevention 2012-2014, which was published just before the issue of the SItI Calendar but concluded earlier (end of 2011), influenza vaccination is recommended "only" for all persons > or = 65 years or included in one of the many at-risk categories. The issue is controversial and has generated considerable debate at national and international level.

Q-elastography in the presurgical diagnosis of thyroid nodules with indeterminate cytology.

Quantitative ultrasound (US) elastography (Q-USE), able to evaluate tissue stiffness has been indicated as a new diagnostic tool to differentiate benign from malignant thyroid lesions. Aim of this prospective study, conducted at the Department of Surgical Sciences, of the "Sapienza" University of Rome, was to evaluate the diagnostic accuracy of Q-USE, compared with US parameters, in thyroid nodules with indeterminate cytology (Thy3).The case study included 140 nodules from 140 consecutive patients.

(In)accuracy of blood pressure measurement in 14 Italian hospitals.

Objectives: The diagnosis and control of hypertension depend on accurate measurement of blood pressure (BP). The literature on the accuracy of BP recording by health professionals is, however, limited, and no study directly interviewed patients in the hospital setting. This multicenter cross-sectional study aimed at evaluating the compliance to current recommendations on BP measurement by health professionals directly from patients and to investigate potential predictors of higher quality in BP recording.

Effectiveness and harms of seasonal and pandemic influenza vaccines in children, adults and elderly: a critical review and re-analysis of 15 meta-analyses.

Fifteen meta-analyses have been published between 1995 and 2011 to evaluate the efficacy/effectiveness and harms of diverse influenza vaccines--seasonal, H5N1 and 2009 (H1N1)--in various age-classes (healthy children, adults or elderly). These meta-analyses have often adopted different analyses and study selection criteria. Because it is difficult to have a clear picture of vaccine benefits and harms examining single systematic reviews, we compiled the main findings and evaluated which could be the most reasonable explanations for some differences in findings (or their interpretation) across previously published meta-analyses.

The phytoestrogen 8-prenylnaringenin inhibits agonist-dependent activation of human platelets.

Background: Phytoestrogens are plant-derived polyphenolic compounds that exert beneficial effects on human health, mostly related to their estrogen mimetic activity. In particular a strong correlation between phytoestrogens intake and a lower risk of cardiovascular diseases has been reported. The flavanone 8-prenylnaringenin, extracted from hop flowers, has been identified as a novel phytoestrogen, unique with respect to estrogen receptors specificity and potency.

In papillary thyroid carcinoma BRAFV600E is associated with increased expression of the urokinase plasminogen activator and its cognate receptor, but not with disease-free interval.

Context: It has been suggested that patients with papillary thyroid cancer (PTC) harbouring the BRAF(V600E) mutation have a worse prognosis. We showed in PTC that high levels of urokinase plasminogen activator (uPA) and its cognate receptor (uPAR) inversely correlate with disease-free interval (DFI).

Objectives: To investigate the effects of BRAF(V600E) on the expression of uPA and uPAR and to evaluate the prognostic relevance of BRAF(V600E) alone or in combination with uPA and uPAR.

A TARBP2-dependent miRNA expression profile underlies cancer stem cell properties and provides candidate therapeutic reagents in Ewing sarcoma.

We have recently demonstrated that human pediatric mesenchymal stem cells can be reprogrammed toward a Ewing sarcoma family tumor (ESFT) cancer stem cell (CSC) phenotype by mechanisms that implicate microRNAs (miRNAs). Here, we show that the miRNA profile of ESFT CSCs is shared by embryonic stem cells and CSCs from divergent tumor types. We also provide evidence that the miRNA profile of ESFT CSCs is the result of reversible disruption of TARBP2-dependent miRNA maturation.

Effects of different types of contingent tactile stimulation on crying, smiling, and sleep in newborns: an observational study.

Sleep, the brain and the ability to interact with the environment change a great deal over the first year of life; however, there are no studies on the possible influence of different environmental stimulations on the organization of subsequent sleep-wake cycles in infants. The hypothesis of this study was that greater continuity of contingent tactile stimulation decreases crying behavior, subsequent active sleep (AS) and its fragmentation, and increases smiling behavior and subsequent quiet sleep in newborns. Forty out of the 82 newborns (15- to 30-hr old) of the initial sample satisfied the inclusion criteria and completed the first cycle of sleep during the period between two feedings.

[Online communication regarding health promotion and protection: the public health perspective].

Currently web health portals are moving away from providing institutional and administrative types of information towards a more interactive type of communication focused on providing citizens and health care professionals various services associated with health promotion and on facilitating access to healthcare services. The aim of this study was to provide guidance in the planning and conduction of online health promotion and protection communication activities that will contribute to the process of community empowerment repeatedly called upon by the WHO. For this purpose, the authors conducted an analysis of the epidemiology of the determinants of health and disease in Italy as well as two systematic revisions of the literature regarding web-based health information needs of citizens and the efficacy of health promotion and preventative interventions administered via the internet.

Oral contraceptives and venous thromboembolism: a systematic review and meta-analysis.

Background: An association between oral contraceptive (OC) use and venous thromboembolism (VTE) has long been recognized. However, no summary estimates of the increase in VTE risk associated with OC use have been available since 1995, and no meta-analyses have evaluated the VTE risk of new preparations containing drospirenone.

Objective: The aim of the study was to carry out a meta-analysis to summarize existing evidence on the association between venous VTE and OC use, and to investigate how such an association may vary according to the type of OC, OC user characteristics, study characteristics and biases.

Dehydroepiandrosterone-sulfate inhibits thrombin-induced platelet aggregation.

Dehydroepiandrosterone (DHEA) and its sulfated form, DHEA-S, are the most abundant steroids circulating in human blood. DHEA stimulates endothelial cells to release high amounts of nitric oxide in the circulation. Nitric oxide activates guanylyl cyclase in platelets thus decreasing the responsiveness of these cells to physiological agonists.

Publication delay of randomized trials on 2009 influenza A (H1N1) vaccination.

Background: Randomized evidence for vaccine immunogenicity and safety is urgently needed in the setting of pandemics with new emerging infectious agents. We carried out an observational survey to evaluate how many randomized controlled trials testing 2009 H1N1 vaccines were published among those registered, and what was the time lag from their start to publication and from their completion to publication.

Methods: PubMed, EMBASE and 9 clinical trial registries were searched for eligible randomized controlled trials.

Effective interventions to facilitate the uptake of breast, cervical and colorectal cancer screening: an implementation guideline.

Background: Appropriate screening may reduce the mortality and morbidity of colorectal, breast, and cervical cancers. Several high-quality systematic reviews and practice guidelines exist to inform the most effective screening options. However, effective implementation strategies are warranted if the full benefits of screening are to be realized.

What implementation interventions increase cancer screening rates? a systematic review.

Background: Appropriate screening may reduce the mortality and morbidity of colorectal, breast, and cervical cancers. However, effective implementation strategies are warranted if the full benefits of screening are to be realized. As part of a larger agenda to create an implementation guideline, we conducted a systematic review to evaluate interventions designed to increase the rate of breast, cervical, and colorectal cancer (CRC) screening.

Meta-analysis of the immunogenicity and tolerability of pandemic influenza A 2009 (H1N1) vaccines.

Background: Although the 2009 (H1N1) influenza pandemic officially ended in August 2010, the virus will probably circulate in future years. Several types of H1N1 vaccines have been tested including various dosages and adjuvants, and meta-analysis is needed to identify the best formulation.

Methods: We searched MEDLINE, EMBASE, and nine clinical trial registries to April 2011, in any language for randomized clinical trials (RCTs) on healthy children, adolescents, adults and the elderly.

Let-7a is a direct EWS-FLI-1 target implicated in Ewing's sarcoma development.

Ewing's sarcoma family tumors (ESFT) are the second most common bone malignancy in children and young adults, characterized by unique chromosomal translocations that in 85% of cases lead to expression of the EWS-FLI-1 fusion protein. EWS-FLI-1 functions as an aberrant transcription factor that can both induce and suppress members of its target gene repertoire. We have recently demonstrated that EWS-FLI-1 can alter microRNA (miRNA) expression and that miRNA145 is a direct EWS-FLI-1 target whose suppression is implicated in ESFT development.

The efficiency of CO2 sequestration via carbonate mineralization with simulated wastewaters of high salinity.

Salinity generally strongly affects the solubility of carbon dioxide in aqueous solution. This would seem to involve a reduction of the efficiency of the carbonate mineralization process with the objective to sequester this greenhouse gas. On the contrary, we demonstrate here that with a more concentrated solution of magnesium chloride, the residence time of CO(2) is enhanced in the aqueous medium because of a reduced tendency to produce CO(2(g)).