Public attitudes, knowledge and educational needs toward genetic testing and omics sciences: a pilot survey conducted in Italy.

Advancements in genomics have significant implications for public health, making citizens' education vital for informed decision-making. Based on two literature reviews' findings and a survey conducted with experts from the Italian Network of Genomics in Public Health, we conducted a pilot survey on Italian citizens' attitudes, knowledge and educational needs toward genetic testing and omics sciences. Our results demonstrate a widespread interest in genetic testing and uncertainties regarding associated risks, with 99% of participants acknowledging insufficient knowledge of genetic testing. There is an urgent need for educational tools to improve citizens' literacy and engagement in this rapidly evolving field.

Current management of surgical neonates: is it optimal or do we need to improve? A national survey of the Italian Society of Neonatology.

PURPOSE: Few guidelines exist for the perioperative management (PM) of neonates with surgical conditions (SC). This study examined the current neonatal PM in Italy. METHODS: We invited 51 neonatal intensive care units with pediatric surgery in their institution to participate in a web-based survey. The themes included (1) the involvement of the neonatologist during the PM; (2) the spread of bedside surgery (BS); (3) the critical issues concerning the neonatal PM in operating rooms (OR) and the actions aimed at improving the PM. RESULTS: Response rate was 82.4%. The neonatologist is involved during the intraoperative management in 42.9% of the responding centers (RC) and only when the surgery is performed at the patient's bedside in 50.0% of RCs. BS is reserved for extremely preterm (62.5%) or clinically unstable (57.5%) infants, and the main barrier to its implementation is the surgical-anesthesiology team's preference to perform surgery in a standard OR (77.5%). Care protocols for specific SC are available only in 42.9% of RCs. CONCLUSION: Some critical issues emerged from this survey: the neonatologist involvement in PM, the spread of BS, and the availability of specific care protocols need to be implemented to optimize the care of this fragile category of patients.

Incidence of bloodstream infections due to multidrug-resistant pathogens in ordinary wards and intensive care units before and during the COVID-19 pandemic: a real-life, retrospective observational study.

PURPOSE: SARS-COV-2 pandemic led to antibiotic overprescription and unprecedented stress on healthcare systems worldwide. Knowing the comparative incident risk of bloodstream infection due to multidrug-resistant pathogens in COVID ordinary wards and intensive care-units may give insights into the impact of COVID-19 on antimicrobial resistance. METHODS: Single-center observational data extracted from a computerized dataset were used to identify all patients who underwent blood cultures from January 1, 2018 to May 15, 2021. Pathogen-specific incidence rates were compared according to the time of admission, patient's COVID status and ward type. RESULTS: Among 14,884 patients for whom at least one blood culture was obtained, a total of 2534 were diagnosed with HA-BSI. Compared to both pre-pandemic and COVID-negative wards, HA-BSI due to S. aureus and Acinetobacter spp. (respectively 0.3 [95% CI 0.21-0.32] and 0.11 [0.08-0.16] new infections per 100 patient-days) showed significantly higher incidence rates, peaking in the COVID-ICU setting. Conversely, E. coli incident risk was 48% lower in COVID-positive vs COVID-negative settings (IRR 0.53 [0.34-0.77]). Among COVID + patients, 48% (n = 38/79) of S. aureus isolates were resistant to methicillin and 40% (n = 10/25) of K. pneumoniae isolates were resistant to carbapenems. CONCLUSIONS: The data presented here indicate that the spectrum of pathogens causing BSI in ordinary wards and intensive care units varied during the pandemic, with the greatest shift experienced by COVID-ICUs. Antimicrobial resistance of selected high-priority bacteria was high in COVID positive settings.

Survey of Professionals of the European Public Health Association (EUPHA) towards Direct-to-Consumer Genetic Testing.

BACKGROUND: The increasing availability of Direct-to-Consumer Genetic Tests (DTC-GTs) has great implications for public health (PH) and requires literate healthcare professionals to address the challenges they pose. We designed and conducted a survey to assess the state of knowledge, attitudes and behaviours of PH professionals members of the European Public Health Association (EUPHA) towards DTC-GTs. METHODS: EUPHA members were invited to participate and fill in the survey. We performed multivariable logistic regression to evaluate associations between selected covariates and knowledge, attitudes and behaviours of healthcare professionals towards DTC-GT. RESULTS: Three hundred and two professionals completed the survey, 66.9% of whom were not involved in genetics or genomics within their professional activities. Although 74.5% of respondents were aware that DTC-GTs could be purchased on the web, most of them reported a low level of awareness towards DTC-GTs applications and regulatory aspects. The majority did not approve the provision of DTC-GTs without consultation of a healthcare professional (91.4%), were doubtful about the test utility and validity (61%) and did not feel prepared to address citizens' questions (65.6%). Predictors of knowledge on DTC-GT were the involvement in genetics/genomics and receiving training during the studies (P < 0.0001 and P = 0.043). Predictors of attitudes were medical degree and knowledge about DTC-GTs (P = 0.006 and P = 0.027). CONCLUSIONS: Our results revealed a high level of awareness of DTC-GT web purchasing and a moderate to low level of awareness towards their applications. Despite the overall positive attitudes, PH professionals reported a high need for strengthening regulatory aspects of DTC-GTs provision process.

Early Discharge of Newborns Born to Mothers with COVID-19: A Possible Safe Strategy.

OBJECTIVE: In this study, we evaluated the safety of early discharge (ED) of newborns born to coronavirus disease 2019 (COVID-19)-positive mothers. STUDY DESIGN: All ED newborns from the postpartum wards of the Fondazione Policlinico Gemelli between January 1, 2022, and February 28, 2022, were retrospectively analyzed. Newborns from mothers with COVID-19 and those from uninfected mothers were considered. The primary outcome was to evaluate whether the rate of the composite outcome, which was the percentage of rehospitalization/access in emergency room (RH/ER) within the first week from discharge, differed between neonates born to mother with COVID-19 (COVID-19 group) and those born to uninfected mothers (no COVID-19 group). The secondary outcomes were to assess the quality of feeding and number of outpatient visits in the follow-up clinic between the two cohorts of patients. RESULTS: One hundred and thirty-four newborns in the no COVID-19 group and 26 in the COVID-19 group were analyzed. The rate of RH/ER in the no COVID-19 group was of 6 over 134 newborns (0.045, 95% confidence image [CI]: 0.017-0.095), while in COVID-19 group, it was of 2 over 26 newborns (0.077), which does not differ from the expected rate (1.17 over 26 newborns, 0.045, 95% CI: 0.017-0.095). CONCLUSION: ED for newborns from mothers with COVID-19 could be an actionable safe strategy. KEY POINTS: · We evaluated the feasibility of early discharge (ED) of mothers with COVID-19 and their newborns.. · Rate of rehospitalization between newborns from uninfected mothers and infected ones was comparable.. · ED could be an actionable practice for newborns from mothers with COVID-19..

Effects of a Multicomponent Lipid Emulsion on Brain Volumes in Extremely Low Birth Weight Infants.

OBJECTIVE: During the early weeks of life optimization of nutrition in extremely preterm infants presents a critical opportunity to attenuate the adverse neurological consequences of prematurity and potentially improve neurodevelopmental outcome. We hypothesized that the use of multicomponent lipid emulsion (MLE) in parenteral nutrition (PN) would be related to larger volume of the cerebellum on brain magnetic resonance at term of equivalent age (TEA) in extremely low birth weight (ELBW) infants. STUDY DESIGN: We analyzed the brain magnetic resonance imaging (MRI) at TEA of a cohort of preterm infants with gestational age ≤28 weeks and/or birth weight <1,000 g randomly assigned in our previous trial to receive an MLE or soybean-based lipid emulsion (SLE). The primary outcome of the study was the cerebellar volume (CeV), valued on MRI acquired at TEA. Secondary outcomes included total brain volume (TBV), supratentorial volume, brainstem volume, and CeV corrected for TBV evaluated on MRI acquired at TEA. RESULTS: MRIs at TEA of 34 infants were then analyzed: 17 in the MLE group and 17 in the SLE group. The postmenstrual age (PMA) at which MRIs were performed were comparable between the two study groups. The CeV as well as the PMA-corrected CeV were significantly higher in the MLE group than in the SLE group. No difference was found among the other brain volumes considered. CONCLUSION: Our results suggest that the use of MLE in PN could promote CeV growth in ELBW infants, valued with MRI at TEA. KEY POINTS: · Optimization of nutrition in extremely low birthweight infants.. · Use of multicomponent lipid emulsions in parenteral nutrition.. · Larger cerebellar volume with use of multicomponent lipid emulsion..

Salt intake and gastric cancer: a pooled analysis within the Stomach cancer Pooling (StoP) Project.

PURPOSE: Previous studies show that consuming foods preserved by salting increases the risk of gastric cancer, while results on the association between total salt or added salt and gastric cancer are less consistent and vary with the exposure considered. This study aimed to quantify the association between dietary salt exposure and gastric cancer, using an individual participant data meta-analysis of studies participating in the Stomach cancer Pooling (StoP) Project. METHODS: Data from 25 studies (10,283 cases and 24,643 controls) from the StoP Project with information on salt taste preference (tasteless, normal, salty), use of table salt (never, sometimes, always), total sodium intake (tertiles of grams/day), and high-salt and salt-preserved foods intake (tertiles of grams/day) were used. A two-stage approach based on random-effects models was used to pool study-specific adjusted (sex, age, and gastric cancer risk factors) odds ratios (aORs), and the corresponding 95% confidence intervals (95% CI). RESULTS: Gastric cancer risk was higher for salty taste preference (aOR 1.59, 95% CI 1.25-2.03), always using table salt (aOR 1.33, 95% CI 1.16-1.54), and for the highest tertile of high-salt and salt-preserved foods intake (aOR 1.24, 95% CI 1.01-1.51) vs. the lowest tertile. No significant association was observed for the highest vs. the lowest tertile of total sodium intake (aOR 1.08, 95% CI 0.82-1.43). The results obtained were consistent across anatomic sites, strata of Helicobacter pylori infection, and sociodemographic, lifestyle and study characteristics. CONCLUSION: Salty taste preference, always using table salt, and a greater high-salt and salt-preserved foods intake increased the risk of gastric cancer, though the association was less robust with total sodium intake.

Polygenic risk prediction models for colorectal cancer: a systematic review.

BACKGROUND: Risk prediction models incorporating single nucleotide polymorphisms (SNPs) could lead to individualized prevention of colorectal cancer (CRC). However, the added value of incorporating SNPs into models with only traditional risk factors is still not clear. Hence, our primary aim was to summarize literature on risk prediction models including genetic variants for CRC, while our secondary aim was to evaluate the improvement of discriminatory accuracy when adding SNPs to a prediction model with only traditional risk factors. METHODS: We conducted a systematic review on prediction models incorporating multiple SNPs for CRC risk prediction. We tested whether a significant trend in the increase of Area Under Curve (AUC) according to the number of SNPs could be observed, and estimated the correlation between AUC improvement and number of SNPs. We estimated pooled AUC improvement for SNP-enhanced models compared with non-SNP-enhanced models using random effects meta-analysis, and conducted meta-regression to investigate the association of specific factors with AUC improvement. RESULTS: We included 33 studies, 78.79% using genetic risk scores to combine genetic data. We found no significant trend in AUC improvement according to the number of SNPs (p for trend = 0.774), and no correlation between the number of SNPs and AUC improvement (p = 0.695). Pooled AUC improvement was 0.040 (95% CI: 0.035, 0.045), and the number of cases in the study and the AUC of the starting model were inversely associated with AUC improvement obtained when adding SNPs to a prediction model. In addition, models constructed in Asian individuals achieved better AUC improvement with the incorporation of SNPs compared with those developed among individuals of European ancestry. CONCLUSIONS: Though not conclusive, our results provide insights on factors influencing discriminatory accuracy of SNP-enhanced models. Genetic variants might be useful to inform stratified CRC screening in the future, but further research is needed.

Change in age distribution of COVID-19 deaths with the introduction of COVID-19 vaccination.

OBJECTIVES: Most countries initially deployed COVID-19 vaccines preferentially in elderly populations. We aimed to evaluate whether population-level vaccine effectiveness is heralded by an increase in the relative proportion of deaths among non-elderly populations that were less covered by vaccination programs. ELIGIBLE DATA: We collected data from 40 countries on age-stratified COVID-19 deaths during the vaccination period (1/14/2021-5/31/2021) and two control periods (entire pre-vaccination period and excluding the first wave). MAIN OUTCOME MEASURES: We meta-analyzed the proportion of deaths in different age groups in vaccination versus control periods in (1) countries with low vaccination rates; (2) countries with age-independent vaccination policies; and (3) countries with standard age-dependent vaccination policies. RESULTS: Countries that prioritized vaccination among older people saw an increasing share of deaths among 0-69 year old people in the vaccination versus the two control periods (summary proportion ratio 1.32 [95 CI% 1.24-1.41] and 1.35 [95 CI% 1.26-1.44)]. No such change was seen on average in countries with age-independent vaccination policies (1.05 [95 CI% 0.78-1.41 and 0.97 [95 CI% 0.95-1.00], respectively) and limited vaccination (0.93 [95 CI% 0.85-1.01] and 0.95 [95 CI% 0.87-1.03], respectively). Proportion ratios were associated with the difference of vaccination rates in elderly versus non-elderly people. No significant changes occurred in the share of deaths in age 0-49 among all 0-69 deaths in the vaccination versus pre-vaccination periods. CONCLUSIONS: The substantial shift in the age distribution of COVID-19 deaths in countries that rapidly implemented vaccination predominantly among elderly provides evidence for the population level-effectiveness of COVID-19 vaccination and a favorable evolution of the pandemic towards endemicity with fewer elderly deaths.

Vertical Transmission of SARS-CoV-2 during Pregnancy: A Prospective Italian Cohort Study.

OBJECTIVE: The extent of vertical transmission (VT) of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) from mothers their fetuses or neonates is still uncertain. We aimed to determine the incidence of VT. STUDY DESIGN: In this prospective cohort study. All mother diagnosed with SARS-CoV-2 infection at the time of delivery or up to 1 week prior and their neonates, managed in a tertiary referral hospital for pregnancy complicated by coronavirus disease 2019 (COVID-19) in Rome, from April 2 to December 22, 2020, were included. Maternal infection was defined as nasopharyngeal swab test results positive for SARS-CoV-2 reverse transcription-polymerase chain reaction (RT-PCR). Biological samples were collected before, at, and after delivery to test positivity for SARS-CoV-2 RT-PCR and anti-SARS-CoV-2-specific antibodies. RESULTS: The cohort included 95 women and 96 neonates with documented SARS-CoV-2 test results. Four neonates (4.2%) tested positive. The incidence of VT, according to the guidance criteria for diagnosing perinatal SARS-CoV-2 infection, was 5.2%. Neonatal symptoms were due to prematurity or fetal distress: symptomatic infants had lower median (min-max) gestational age, 38.1 (29.3-40.6) versus 39.3 (33.9-41.9) weeks (p = 0.036), and 1-minute and 5-minute Apgar scores, 9 (3-9) versus 9 (7-10) (p = 0.036) and 10 (6-10) versus 10 (8-10) (p = 0.012), respectively, than asymptomatic infants and needed more frequent assistance in the delivery room (22.2 vs 2.5%; p = 0.008). Only six (7.1%) neonates had anti-SARS-CoV-2-specific antibodies, despite the ongoing maternal infection. CONCLUSION: The incidence of VT is low as is the detection of specific anti-SARS-CoV-2 antibodies in cord blood when infection is contracted late in pregnancy. This would suggest poor protection of infants against horizontal transmission of the virus. KEY POINTS: · VT of SARS-CoV-2 from pregnant mothers to fetuses or neonates can be possible.. · In this prospective cohort study, the incidence of VT is found to be 5.2%.. · VT is low but exists..

Nitrous oxide occupational exposure in conscious sedation procedures in endoscopic ambulatories: a pilot retrospective observational study in an Italian hospital.

SUMMARY: Introduction. Nitrous oxide (N2O) is widely used to induce sedation also outside of operating rooms; there is a chance of workplace exposures for the operators engaged in the outpatient use of nitrous oxide. The aim of this research is to assess nitrous oxide exposure in gastroenterology outpatient settings. Methods. We performed an observational study marked by N2O environmental testing in a gastroenterology outpatient care; environmental research was supported by biological monitoring with urinary N2O analysis in exposed operators. The research was conducted both without and using a collective security device (NIKI mask). Results. The study was rolled out in 10 sessions of day shift procedures, totaling 4105 samples. The average N2O concentration in the environment was 27.58 (SD 1.76) and 449.59 (SD 35.29), respectively with and without NIKI Mask; the distribution of gases in the environment under investigation was not homogeneous (Anovatest P=0.001). Biological testing revealed a substantial rise in urinary concentration of 8.97 (p=0.001) between the start and the end of the shift, and the use of the NIKI-mask was effective (p=.003). Discussion. The exposure levels reported exceed the limits of 50 ppm (Italy operating rooms threshold value) as well as the value of 25 ppm (NIOSH threshold-value), indicating a significant issue in the outpatient use of N2O. Technical measures are needed to contain the occupational risk from N2O exposure outside of operating rooms; for the exposure results detected in this research, it is also evident that workers exposed to N2O must be subject to adequate health surveillance accounting for this occupational risk.

Single nucleotide polymorphisms and the risk of developing a second primary cancer among head and neck cancer patients: a systematic literature review and meta-analysis.

BACKGROUND: Head and Neck Cancer (HNC) survivors are at increased risk of developing a second primary cancer (SPC). Along with the environmental risk factors, genetic factors have been associated with a potential increased susceptibility to SPC development. We aim to identify the Single Nucleotide Polymorphisms (SNPs) that contribute to SPC development among HNC survivors through a systematic review and meta-analysis. METHODS: We searched PubMed, Scopus and ISI Web of Science for eligible studies published in English until January 31st, 2020. We included studies reporting primary data that evaluated the association between SNPs and SPC risk in HNC patients. Data were pooled in a random-effect meta-analyses, when at least two studies on the same SNP evaluated the same genotype model. Heterogeneity was assessed using the χ2-based Q-statistics and the I2 statistics. Quality of the included studies was assessed using the Q-Genie tool. RESULTS: Twenty-one studies, of moderate to good quality, were included in the systematic review. Fifty-one genes were reported across the included studies to have significant associations with an increased SPC risk. Overall, 81 out of 122 investigated SNPs were significantly associated with the SPC risk. Seven studies were included in the meta-analysis, which showed five SNPs associated with an increased risk of SPC: p21C70T, CT + TT (HR = 1.76; 95% CI: 1.28-2.43); FASLG -844C > T, CT + TT (HR = 1.82; 95% CI: 1.35-2.46), P21 C98A, CA + AA (HR = 1.75; 95% CI: 1.28-2.38); FAS -670A > G (HR = 1.84; 95% CI: 1.28-2.66) and GST-M1, Null genotype (HR = 1.54; 95% CI: 1.13-2.10). CONCLUSIONS: The identified SNPs in our systematic review and meta-analysis might serve as potential markers for identification of patients at high risk of developing SPC after primary HNC. PROSPERO REGISTRATION NUMBER: CRD42019135612 .

Impact of the COVID-19 pandemic on psychological well-being of students in an Italian university: a web-based cross-sectional survey.

BACKGROUND: Italy was the first European country to implement a national lockdown because of the COVID-19 pandemic. Worldwide, this pandemic had a huge impact on the mental health of people in many countries causing similar reaction in terms of emotions and concerns at the population level. Our study investigated the impact of the COVID-19 pandemic on psychological well-being in a cohort of Italian university students. METHODS: We conducted a cross-sectional survey in the period immediately after the first lockdown through the administration of a questionnaire on the personal websites of students attending their undergraduate courses at the Università Cattolica del Sacro Cuore. We used the Patient-Health-Engagement-Scale, Self-Rating-Anxiety-Scale, and Self-Rating-Depression-Scale to assess engagement, anxiety symptoms, and depression symptoms of our sample. RESULTS: The sample size was 501 subjects, of which 35.33% were classified as anxious and 72.93% as depressed. Over 90% of respondents had good understanding of the preventive measures despite over 70% suffered from the impossibility of physically seeing friends and partners. Around 55% of students would have been willing to contribute much more to face the pandemic. An increase in the occurrences of anxiety was associated with being female, being student of the Rome campus, suffering from the impossibility of attending university, being distant from colleagues, and being unable of physically seeing one's partner. Performing physical activity reduced this likelihood. CONCLUSION: University students are at risk of psychological distress in the case of traumatic events. The evolution of the pandemic is uncertain and may have long-term effects on mental health. Therefore, it is crucial to study the most effective interventions to identify vulnerable subgroups and to plan for acute and long-term psychological services to control and reduce the burden of psychological problems.

Genetic susceptibility of increased intestinal permeability is associated with progressive liver disease and diabetes in patients with non-alcoholic fatty liver disease.

BACKGROUND AND AIM: Increased intestinal permeability plays a key role in the pathogenesis of fat deposition in the liver. The aim of our study was to assess whether a single nucleotide polymorphism of protein tyrosine phosphatase non-receptor type 2 (PTPN2) (rs2542151 T→G), involved in intestinal permeability, may be associated with non-alcoholic fatty liver disease (NAFLD) and type 2 diabetes mellitus (T2DM). METHODS AND RESULTS: We recruited a prospective cohort of NAFLD subjects and matched controls. Clinical data, PTPN2 genotype and laboratory data were collected for each patient. Results were stratified according to liver histology and diabetes. We enrolled 566 cases and 377 controls. PTPN2 genotype distribution did not significantly differ between patients and controls. In the entire population, patients with PTPN2 rs2542151 T→G (dominant model) have a higher prevalence of diabetes; 345 patients (60.9%) underwent liver biopsy: 198 (57.4%) had steatohepatitis and 75 (21.7%) had advanced fibrosis. At multiple logistic regression analysis PTPN2 rs2542151 T→G was associated with T2DM (OR 2.14, 95% CI 1.04-4.40, P = 0.03). Patients who underwent liver biopsy, rs2542151 T→G of PTPN2 was independently associated with severe steatosis (OR 2.00, 95% CI 1.17-3.43, p = 0.01) and severe fibrosis (OR 2.23, 95% CI 1.06-4.72, P = 0.03). CONCLUSION: Our study shows that NAFLD patients with rs2542151 T→G of PTPN2 have a higher severity of fatty liver disease and a higher prevalence of T2DM. These results suggest that individual genetic susceptibility to intestinal permeability could play a role in liver disease progression.

Occurrence of metachronous second primary cancer in head and neck cancer survivors: A systematic review and meta-analysis of the literature.

OBJECTIVE: Head and neck cancer (HNC) is the sixth leading cancer worldwide with approximately 600,000 new cases per year. Several studies suggest that HNC survivors may have an increased risk of developing second primary cancers (SPCs). A systematic review and meta-analysis was performed aiming to quantify the overall and site-specific risk of metachronous SPCs in HNC survivors. METHODS: PubMed, Web of Science and Scopus were searched to identify studies published until October 2019. Studies investigating the standardised incidence ratio (SIR) of metachronous SPC were included. A random-effects meta-analysis was performed to calculate the overall and site-specific SIRs. Newcastle-Ottawa Scale was used to assess the study's quality. Heterogeneity was quantified using the I2 statistics and explored using meta-regression. RESULTS: Twenty-six studies were included in the systematic review. Studies differed by the definition of metachronous SPC used. For the meta-analyses, the studies were grouped according to these definitions. In the three groups, the overall risk of metachronous SPC was increased. The highest SPC risk was for oropharynx, oesophagus and lung. CONCLUSIONS: Head and neck cancer survivors are at increased overall risk of metachronous SPCs. The canonical upper aerodigestive sites, HNLE (head and neck, oesophagus and lung), were the SPC sites with the highest risk. IMPLICATION FOR CANCER SURVIVORS: Our results emphasise the importance of targeted surveillance strategies aimed at early detection and tertiary preventive interventions.

Acid sensing ion channel 2: A new potential player in the pathophysiology of multiple sclerosis.

Acid-sensing ion channels (ASICs) are proton-gated channels involved in multiple biological functions such as: pain modulation, mechanosensation, neurotransmission, and neurodegeneration. Earlier, we described the genetic association, within the Nuoro population, between Multiple Sclerosis (MS) and rs28936, located in ASIC2 3'UTR. Here we investigated the potential involvement of ASIC2 in MS inflammatory process. We induced experimental autoimmune encephalomyelitis (EAE) in wild-type (WT), knockout Asic1-/- and Asic2-/- mice and observed a significant reduction of clinical score in Asic1-/- mice and a significant reduction in the clinical score in Asic2-/- mice in a limited time window (i.e., at days 20-23 after immunization). Immunohistochemistry confirmed the reduction in adaptive immune cell infiltrates in the spinal cord of EAE Asic1-/- mice. Analysis of mechanical allodynia, showed a significant higher pain threshold in Asic2-/- mice under physiological conditions, before immunization, as compared to WT mice and Asic1-/- . A significant reduction in pain threshold was observed in all three strains of mice after immunization. More importantly, analysis of human autoptic brain tissue in MS and control samples showed an increase of ASIC2 mRNA in MS samples. Subsequently, in vitro luciferase reporter gene assays, showed that ASIC2 expression is under possible miRNA regulation, in a rs28936 allele-specific manner. Taken together, these findings suggest a potential role of ASIC2 in the pathophysiology of MS.

MicroRNAs expression profiles as diagnostic biomarkers of gastric cancer: a systematic literature review.

OBJECTIVE: The early identification of gastric cancer (GC) represents a major clinical challenge. We conducted a systematic review of studies evaluating the miRNA expression profiling as a diagnostic tool in GC. METHODS: We performed a search of PubMed, ISI Web of Science and SCOPUS databases for studies on diagnostic miRNAs and GC, published in English up to October 2017. Eligibility criteria included case-control studies evaluating blood or tissue-based miRNA expression profiles, and incorporating at least two detection phases (screening and validation). RESULTS: We included 27 eligible studies, that reported on 97 deregulated miRNAs either in blood or tissue, out of which 30 were reported in at least two studies. Among 22 studies on tissue-diagnostic miRNAs, 13 consistently upregulated miRNAs (miR-214, miR-21, miR-103, miR-107, miR-196a, miR-196b, miR-7, miR-135b, miR-222, miR-23b, miR-25, miR-92 and miR-93), and six consistently downregulated miRNAs (miR-148a, miR-375, miR-133b, miR-30a, miR-193a and miR-204) were reported. Ten miRNAs with inconsistent direction of expression in tissues were identified. Among the five studies performed on blood samples, only one miRNA was consistently upregulated (miR-20a). CONCLUSIONS: This review shows that some tissue or blood miRNAs may be considered as potential biomarkers for GC diagnosis, that urgently needs to be confirmed from large prospective studies.

Benefits and challenges of Big Data in healthcare: an overview of the European initiatives.

Healthcare systems around the world are facing incredible challenges due to the ageing population and the related disability, and the increasing use of technologies and citizen's expectations. Improving health outcomes while containing costs acts as a stumbling block. In this context, Big Data can help healthcare providers meet these goals in unprecedented ways. The potential of Big Data in healthcare relies on the ability to detect patterns and to turn high volumes of data into actionable knowledge for precision medicine and decision makers. In several contexts, the use of Big Data in healthcare is already offering solutions for the improvement of patient care and the generation of value in healthcare organizations. This approach requires, however, that all the relevant stakeholders collaborate and adapt the design and performance of their systems. They must build the technological infrastructure to house and converge the massive volume of healthcare data, and to invest in the human capital to guide citizens into this new frontier of human health and well-being. The present work reports an overview of best practice initiatives in Europe related to Big Data analytics in public health and oncology sectors, aimed to generate new knowledge, improve clinical care and streamline public health surveillance.

Which Lynch syndrome screening programs could be implemented in the "real world"? A systematic review of economic evaluations.

PURPOSE: Lynch syndrome (LS) screening can significantly reduce cancer morbidity and mortality in mutation carriers. Our aim was to identify cost-effective LS screening programs that can be implemented in the "real world." METHODS: We performed a systematic review of full economic evaluations of genetic screening for LS in different target populations; health outcomes were estimated in life-years gained or quality-adjusted life-years. RESULTS: Overall, 20 studies were included in the systematic review. Based on the study populations, we identified six categories of LS screening program: colorectal cancer (CRC)-based, endometrial cancer-based, general population-based, LS family registry-based, cascade testing-based, and genetics clinic-based screening programs. We performed an in-depth analysis of CRC-based LS programs, classifying them into three additional subcategories: universal, age-targeted, and selective. In five studies, universal programs based on immunohistochemistry, either alone or in combination with the BRAF test, were cost-effective compared with no screening, while in two studies age-targeted programs with a cutoff of 70 years were cost-effective when compared with age-targeted programs with lower age thresholds. CONCLUSION: Universal or <70 years-age-targeted CRC-based LS screening programs are cost-effective and should be implemented in the "real world."