Annali dell'Istituto Superiore di Sanità
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Identification of two novel LDLR variants by Next Generation Sequencing
Get PDFIntroduction. Familial hypercholesterolemia (FH) is an autosomal dominant inherited disease characterized by elevated plasma low-density lipoprotein cholesterol (LDL-C). Targeted Next Generation Sequencing (NGS) is a new opportunity to expand the existing pathogenic variants (PVs) spectrum associated to FH. Our aim was to report a diagnostic NGS-based approach to detect variants associated to FH.Methods. We report two patients: a 48-year-old Asian woman, without known history of hypercholesterolemia and a 46-year-old Caucasian man, with childhood hypercholesterolemia.Results. An effective NGS-based pipeline, FH-Devyser kit/Amplicon Suite, beginning from sequencing to data analysis, did not identify known PVs in the LDLR, APOB, APOE, LDLRAP1, STAP1 and PCSK9 genes, but revealed two novel LDLR variants (c.1564A>T, p.Ile522Phe and c.1688C>T, p.Pro563Leu).Discussion and conclusions. This study showed that an effective NGS-based pipeline led to a definitive diagnosis in two FH families, allowing to plan their therapeutic treatment. Although the functional consequence of the two LDLR variants needs to be assessed in vitro, the in silico analysis and high preservation of the two amino acid positions observed in the LDLR protein, across different animal species, suggest that both variants are deleterious
Perception of climate change, loss of social capital and mental health in two groups of migrants from African countries
Get PDFAbstractIntroduction. The negative effects of climate change affect community subsistencemodels, thus determining an increase in social conflicts, a loosening of social capital, anincrease in the incidence of traumas and diseases, and a push for migration.Aim. This exploratory research compares the perception of climate change, as well as thereduction of social capital and mental health, in two groups of migrants arriving in Italyfrom African countries with high or extreme vulnerability to climate change.Methods. The perception of climate change and the degree of social capital were assessedwith a semi-structured interview. The psychological condition was investigatedthrough a clinical psychological interview and tests.Results. The group of migrants coming from countries with extreme exposure to climatechange perceive greater vulnerability of their country and reports a greater loss of socialcapital. The level of education does not seem to affect the ability to perceive climatechange. In the entire sample, there is a strong correlation between the perception ofchange and the loss of social capital, and between the loss of social capital and emotionaldisorders.Conclusions. The study suggests that actions to preserve the social capital of a communitystrongly exposed to climate change can mitigate the impact of change on mentalhealth
Priority coding for scheduling pain medication consultations: a simple tool supporting both efficient allocation and sustainability of use of resources
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Pharmacology and legal status of cannabidiol.
Get PDFCannabidiol (CBD) is the second most abundant cannabinoid present in Cannabis sativaL. It is not associated with psychotropic activity and is capable to mitigate the psychotomimeticeffects produced by tetrahydrocannabinol (THC). The latest cannabis decriminalizationpolicies and the high applicability in therapeutic and technologic-industrialfields, have determined an exponential marketing growth of foods, cosmetics and inparticularly medicinal products containing CBD, which are easily available for consumers.Most importantly, on 2018 United States Food and Drug Administration approvedCBD oral solution with the trade name of Epidiolex® for the treatment of two rare andsevere forms of epilepsy, “Lennox-Gastaut syndrome” and “Dravet syndrome”, in pediatricpatients. The aim of this review was to focus on pharmacology and on legal statusof CBD, to highlight the lack of harmonization of international regulatory laws over themarketing authorization of CBD-based products
Dioxins and PCBs contamination in mussels from Taranto (Ionian Sea, Southern Italy): a seven years spatio-temporal monitoring study
Get PDFIntroduction. Taranto is of particular Public Health relevance for the presence of industrialsources of dioxins and PCBs. The aim of this study was to monitor these pollutantsin mussels produced from 2012 to 2018.Materials and methods. Mussels were collected on a monthly basis with random sampling.Concentrations were determined through accredited methods.Results. 622 samples were collected. Dioxins and PCBs showed higher median concentrationsin Mar Piccolo 1st Inlet (p s <0.0001; Dioxins: 1.43 pg WHO-TEQ/g ww;Dioxins+DL-PCBs: 5.98 pg WHO-TEQ/g ww; DL-PCBs: 4.57 pg WHO-TEQ/g ww;NDL-PCBs: 61.54 ng/g ww) and in III trimester for all basins (p s <0.02). In Mar Piccolo1 st Inlet, there was a linear increase of dioxins and PCBs moving North (p s <0.05).Conclusions. These findings confirmed higher concentrations in Mar Piccolo 1 st Inletduring the summer period and supported the validity of the Public Health measuresadopted by the Department of Prevention of Taranto
Dermopigmentation of the nipple-areola complex in a dedicated breast cancer centre, following the Treviso Hospital (Italy) LILT model
Get PDFBackground. Dermopigmentation, also known as medical tattooing, is a complementary technique in the reconstruction of the nipple-areola and an adjuvant procedure to improve colour mismatch. In 2009, tattooing of the nipple-areola complex (NAC) was introduced by Treviso Hospital through a project conducted in cooperation with the local section of the Italian Anti-Cancer League (LILT).Methods. From 2010 to 2016, 169 patients treated for breast cancer underwent dermopigmentation treatments. Patients were selected by the hospital plastic and breast surgeons. Dermopigmentation was performed at the LILT facility following a specific procedure to ensure safety. A sterile disposable surgical set was used.Results. Of 169 patients treated in 309 treatment sessions, no serious complications were reported after tattooing, with only three cases seen of minor complications. Patients expressed a high level of satisfaction (90%) with the aesthetic results.Conclusion. The study found that dermopigmentation of the NAC is a safe approach, providing benefits both to the patients and the hospital itself. Medical tattooing of the NAC is a simple and safe nonsurgical technique that reduces missed workdays and increases the time available for other commitments. This ultimately translates into savings for society and the healthcare system
Dietary habits among Italian adolescents and their relation to socio-demographic characteristics: the Italian Health Behaviour in School-aged Children 2018 results
No full textObjective. The aim is to describe dietary habits and their association with socio-demographiccharacteristics in a large nationally representative sample of Italian adolescentsaged 11, 13 and 15 years.Materials and methods. Data from the 2018 Italian Health Behaviour in School-agedChildren (HBSC) survey on 58,976 adolescents were analysed to determine eating habits.Logistic regression was used to investigate the association between incorrect dietaryhabits and potential predictors.Results. 38.3% of boys and 48.1% of girls skipped breakfast and 54.1% did not consumefruit and/or vegetables daily. 15.9% of boys and 11.3% of girls drank carbonated-sugarybeverages at least once a day. Incorrect dietary habits were more common among boys,adolescents with lower socio-economic conditions, residents in Southern Italy and thosespending more time watching TV. Italian adolescents were more likely to have incorrectdietary habits compared with those from most other countries involved in 2018 HBSC.Conclusions. Action is needed to improve dietary habits among adolescents
Alcohol use and misuse: a profile of adolescents from 2018 Italian HBSC data
Get PDFObjective. Alcohol remains the most commonly substance used by adolescents.The aimof the study was to draw a comprehensive picture of the behavioural patterns that characterize alcohol use and abuse among 15-year-olds.Materials and methods. The study sample included 18,918 15-year-olds participatingin the 2018 Italian Health Behaviour in School-aged Children (HBSC) survey. A Bayesianapproach was adopted for selecting the manifest variables associated with alcoholconsumption; a latent class regression model was employed to identify health-related riskpatterns associated with alcohol use.Results. 21% of our sample represented the cluster of heavy drinkers who shared otherrisk behaviours: heavy smoking habits (29%), cannabis (68%), gambling (52%) anddrunkenness (76%) experience, binge drinking (96%) and sexual intercourse (51%).Conclusions. Our results confirm multiple risk-taking behaviours among adolescentstending to cluster in behavioural patterns. This has implications for public health policiesand must be considered when planning interventions and prevention strategies
