Familial hypercholesterolemia: a systematic review of guidelines on genetic testing and patient management

BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal-dominant hereditary disorder of lipid metabolism that causes lifelong exposure to increased LDL levels resulting in premature coronary heart disease and, if untreated, death. Recent studies have shown its prevalence to be higher than previously considered, which has important implications for the mortality and morbidity of associated cardiovascular disease (CVD). Several clinical tools are used worldwide to help physicians diagnose FH, but nevertheless most patients remain undetected. This systematic review of guidelines aims to assess the role of genetic testing in the screening, diagnosis, and management of patients affected by heterozygous or homozygous FH and to identify related health-care pathways. METHODS: We performed a systematic review of the literature; inclusion criteria were English or Italian guidelines focusing on genetic testing. The guidelines were included and evaluated for their content and development process using the Appraisal of Guidelines for Research and Evaluation II instrument. RESULTS: Ten guidelines were considered eligible, and all were judged to be of good quality, with slight differences among them. The most common indications for performing genetic tests were high levels of cholesterol, or physical findings consistent with lipid disorder, in the subject or in the family history. Subsequent screening of family members was indicated when a mutation had been identified in the index patient. Regarding patient management, the various guidelines agreed that intensive treatment with lipid-lowering medications should begin as quickly as possible and that lifestyle modifications should be an integral part of the therapy. CONCLUSION: Since the early detection of affected patients is beneficial for effective prevention of CVD, genetic testing is particularly useful for identifying family members via cascade screening and for distinguishing between heterozygous and homozygous individuals, the latter of which require more extreme therapeutic intervention

Slow progress in measles and rubella elimination in Italy

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What Are the Effects of Vitamin A Oral Supplementation in the Prevention and Management of Viral Infections? A Systematic Review of Randomized Clinical Trials

Vitamin A (VA) deficiency is associated with increased host susceptibility to infections, but evidence on its role in the prevention and management of viral infections is still lacking. This review aimed at summarizing the effects of VA supplementation against viral infections to support clinicians in evaluating supplemental treatments. PubMed, Scopus, and Web of Science were searched. Randomized clinical trials comparing the direct effects of VA oral supplementation in any form vs. placebo or standard of care in the prevention and/or management of confirmed viral infections in people of any age were included. A narrative synthesis of the results was performed. The revised Cochrane Risk-Of-Bias tool was used to assess quality. Overall, 40 articles of heterogeneous quality were included. We found data on infections sustained by Retroviridae (n = 17), Caliciviradae (n = 2), Flaviviridae (n = 1), Papillomaviridae (n = 3), Pneumoviridae (n = 4), and Paramyxoviridae (n = 13). Studies were published between 1987 and 2017 and mostly conducted in Africa. The findings were heterogeneous across and within viral families regarding virological, immunological, and biological response, and no meaningful results were found in the prevention of viral infections. For a few diseases, VA-supplemented individuals had a better prognosis and improved outcomes, including clearance of HPV lesions or reduction in some measles-related complications. The effects of VA oral supplementation seem encouraging in relation to the management of a few viral infections. Difference in populations considered, variety in recruitment and treatment protocols might explain the heterogeneity of the results. Further investigations are needed to better identify the benefits of VA administration

Regional reports for the subnational monitoring of measles elimination in Italy and the identification of local barriers to the attainment of the elimination goal

Although most countries in the WHO European Region were verified in 2017 as having interrupted endemic measles transmission, nine countries were still endemic. Among these, Italy accounted for the second highest number of measles cases reported in Europe in 2017. The elimination of measles is verified at national level by each country's National Verification Committee (NVC) through the production of an Annual Status Update (ASU). Since in Italy decentralization has led to an inhomogeneous implementation of immunization strategies among the 21 administrative Regions, the Italian NVC proposed that measles elimination should also be documented at the subnational level through regional ASUs and Synthetic Regional Reports (SRRs). The regional ASUs and the SRRs for 2014, 2015 and 2016 were produced and appraised by the NVC to evaluate the Regions' performances in each individual year as well as over the whole period. A specific analysis of vaccination coverage, including official immunization data for 2017, was performed. Moreover, the measles epidemic of 2017 was examined. Firstly, in the period 2014±2016, low immunization rates were registered in most Regions. Sixty-three per cent of southern Regions reported rates below the national mean and an overall low-quality performance. The approval of Italy's mandatory vaccination law in 2017 resulted in a marked increase in vaccination coverage; however, this increase was not homogeneous among Regions. Secondly, more than 50% of Regions did not report any supplemental immunization activity (SIA) for the period 2014-2016. Thirdly, from 2014 to 2016, fewer than one-third of Regions improved their reporting of outbreaks. Finally, over the study period, only two Regions reached the target required by the WHO for measles laboratory investigations. In countries with decentralized health policies, subnational monitoring can help identify local barriers to measles elimination. In Italy it has highlighted the need for further SIAs and a stronger surveillance system

An Italian survey on the attitudes and beliefs of public health professionals towards mandatory vaccination: a pilot stud

Background: This pilot study aimed to test a questionnaire developed to assess the attitudes and beliefs of Italian public health professionals towards mandatory vaccination for school-aged children. Methods: The online questionnaire was administered to members of the Italian Society of Hygiene, Preventive Medicine and Public Health. Internal consistency was measured using Cronbach’s alpha. Results: Fifty-two people answered the questionnaire: 90.4% were in favour of mandatory vaccination. Overall, the alpha score was above the cut-off value of 0.70. Conclusion: The questionnaire has proved a valid tool for assessing the attitudes and beliefs of Italian public health professionals towards mandatory vaccination

COVID-19 vaccines reduce the risk of SARS-CoV-2 reinfection and hospitalization: Meta-analysis

The addictive protection against SARS-CoV-2 reinfection conferred by vaccination, as compared to natural immunity alone, remains to be quantified. We thus carried out a meta-analysis to summarize the existing evidence on the association between SARS-CoV-2 vaccination and the risk of reinfection and disease. We searched MedLine, Scopus and preprint repositories up to July 31, 2022, to retrieve cohort or case-control studies comparing the risk of SARS-CoV-2 reinfection or severe/critical COVID-19 among vaccinated vs. unvaccinated subjects, recovered from a primary episode. Data were combined using a generic inverse-variance approach. Eighteen studies, enrolling 18,132,192 individuals, were included. As compared to the unvaccinated, vaccinated subjects showed a significantly lower likelihood of reinfection (summary Odds Ratio-OR: 0.47; 95% CI: 0.42-0.54). Notably, the results did not change up to 12 months of follow-up, by number of vaccine doses, in studies that adjusted for potential confounders, adopting different reinfection definitions, and with different predominant strains. Once reinfected, vaccinated subjects were also significantly less likely to develop a severe disease (OR: 0.45; 95% CI: 0.38-0.54). Although further studies on the long-term persistence of protection, under the challenge of the new circulating variants, are clearly needed, the present meta-analysis provides solid evidence of a stronger protection of hybrid vs. natural immunity, which may persist during Omicron waves and up to 12 months

The other side of COVID-19. A cross-sectional study on mental health in a sample of Italian nurses during the second wave

Introduction: The COVID-19 pandemic has led to a drastic increase in the workload of healthcare professionals, particularly nurses, with serious consequences for their psychological well-being. Our study aimed to identify demographic and work-related factors, as well as clinical predictors of post-traumatic stress disorder (PTSD) and generalized anxiety disorder (GAD), in nurses employed during the COVID-19 pandemic. Methods: We carried out a cross-sectional study between December 2020 and April 2021 on nurses employed during the COVID-19 second wave (October - December 2020). We evaluated PTSD and GAD using two validated questionnaires: i) the Impact of Event Scale – Revised (IES-R); and ii) General Anxiety Disorder –7 (GAD-7). Results: Overall, 400 nurses, whose mean age was 34.3 years (SD ± 11.7), were included in the study. Most were female (78.5%), unmarried (58.5%) and employed in the central (61.5%) regions of Italy. A total of 56.8% of all participants had clinical predictors of PTSD, recording a median IES-R score (IQR) of 37.0 (22.0, 51.0) (range 1-84; cut-off >33 for PTSD). Furthermore, 50% of respondents reported moderate-to-severe symptoms consistent with GAD, recording a median GAD-7 score (IQR) of 9.5 (6.0,14.0) (range 0-21; cut-off >10 for GAD). Multivariable analysis showed that moderate-to-severe GAD (aOR = 4.54, 95% CI: 2.93 - 7.05), being employed in the critical care area (aOR = 1.74, 95% CI: 1.01 - 3.00) and being female (aOR= 1.88, 95% CI: 1.09 - 3.22) were significantly associated with the presence of clinical predictors of PTSD. Discussion: The levels of PTSD symptoms and anxiety among nurses were high during the pandemic. PTSD and GAD represent a public health problem that should be addressed in the post-pandemic period. Healthcare organizations need to activate specific support and rehabilitation networks and programs for healthcare professionals employed during the COVID-19 pandemic

Benefits of parent training in the rehabilitation of deaf or hard of hearing children of hearing parents: a systematic review

The present study is a systematic review on the effectiveness of Parent Training (PT) and coaching in deaf and hard of hearing (DHH) rehabilitation programs which reviews and synthesizes the existing body of evidence to assess the benefits of these programs in enhancing parents’ sensitivity, responsivity and promoting language development in DHH children during the first years after HA fitting or CI activation. Five published studies met the Population, Intervention, Comparison and Outcomes (PICO) inclusion criteria and were eligible to be included, but heterogeneity in terms of the study design, interventions and outcomes did not allow for performing a meta-analysis. All included studies shared the view that a parent’s learning is a circular (rather than frontal) process, and the results appear promising in terms of enhancing parents’ responsiveness and promoting DHH child language development. Nevertheless, the available evidence was judged to not be robust enough due to limitations in the studies’ designs. Further high-quality evidence is needed to evaluate the true degree of clinical value and the cost effectiveness of PT programs aimed at increasing parents’ responsiveness to their DHH childre

Attitudes of university students towards mandatory COVID-19 vaccination policies. A cross-sectional survey in Rome, Italy

Mandatory vaccination (MV) against COVID-19 is a contentious topic. In this study, we used logistic regression models to identify attitudes among Sapienza University students towards MV for COVID-19. We considered three different scenarios: mandatory COVID-19 vaccination (MCV) for healthcare workers (HCWs) (Model 1), for all people aged ≥ 12 years (Model 2), and for admission to schools and universities (Model 3). We collected 5287 questionnaires over a six-month period and divided these into three groups (September-October 2021, November-December 2021, and January-February 2022). MCV for HCWs was the most strongly supported policy (69.8% in favour), followed by MCV for admission to schools and universities (58.3%), and MCV for the general population (54.6%). In a multivariable analysis, the models showed both similarities and differences. There was no association of socio-demographic characteristics with the outcomes, apart from being enrolled in non-healthcare courses, which negatively affected Models 2 and 3. A greater COVID-19 risk perception was generally associated with a more positive attitude towards MCV, although heterogeneously across models. Vaccination status was a predictor of being in favour of MCV for HCWs, whereas being surveyed in November-February 2022 favoured MCV for admission to schools and universities. Attitudes towards MCV were variable across policies; thus, to avoid unintended consequences, these aspects should be carefully considered by policymakers