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Aims Despite alcohol consumption being a dose-dependent risk factor for breast cancer, a recent study conducted in the UK found <20% of women attending breast screening programmes were aware of this relationship and proposed proper information campaigns need to be conducted. We aimed to investigate the awareness of this relationship among a related sample of Italian women to evaluate whether similar information campaigns should also be conducted in Italy. Methods The questionnaire used by the UK study was translated into Italian, slightly modified for the Italian context, validated and submitted to a sample of Italian women. Results Overall 507 women were interviewed. Among them, 160 were classified as breast cancer screening attenders (SG), 44 as symptomatic breast clinic attenders (CAG) and 303 as non-screening group (NSG). Alcohol was correctly identified as a risk factor for breast cancer by 16.9, 11.4 and 14.9% of participants of SG, CAG and NSG, respectively without differences between the three groups. Despite the methodological differences, the rates of participants who correctly identified alcohol as a risk factor among women attending breast screening programmes were surprisingly similar between the study conducted in UK (15.7%) and the present study (16.9%). Conclusion The results of the present study confirm the limited awareness of the relationship between alcohol consumption and risk of developing breast cancer among women and suggest the urgent need to conduct proper awareness-raising campaigns to counter this in the Italian female population. [ABSTRACT FROM AUTHOR]

We performed a case-control study in 2,555 multiple sclerosis (MS) Sardinian patients and 1,365 healthy ethnically matched controls, analyzing the interactions between HLA-DRB1-DQB1 haplotypes and defining a rank of genotypes conferring a variable degree of risk to the disease. Four haplotypes were found to confer susceptibility (*13∶03-*03∶01 OR = 3.3, Pc 5.1×10−5, *04∶05-*03∶01 OR = 2.1, Pc 9.7×10−8, *15∶01-*06∶02 OR = 2.0, Pc = 9.1×10−3, *03∶01-*02∶01 OR = 1.7 Pc = 7.9×10−22) and protection (*11, OR = 0.8, Pc = 2.7×10−2, *16∶01-*05∶02 OR = 0.6, Pc = 4.8×10−16, *14∶01-4-*05∶031 = OR = 0.5, Pc = 9.8×10−4 and *15∶02-*06∶01 OR = 0.4, Pc = 5.1×10−4). The relative predispositional effect method confirms all the positively associated haplotypes and showed that also *08 and *04 haplotypes confers susceptibility, while the *11 was excluded as protective haplotype. Genotypic ORs highlighted two typologies of interaction between haplotypes: i) a neutral interaction, in which the global risk is coherent with the sum of the single haplotype risks; ii) a negative interaction, in which the genotypic OR observed is lower than the sum of the OR of the two haplotypes. The phylogenic tree of the MS-associated DRB1 alleles found in Sardinian patients revealed a cluster represented by *14∶01, *04∶05, *13∶03, *08∶01 and *03∶01 alleles. Sequence alignment analysis showed that amino acids near pocket P4 and pocket P9 differentiated protective from predisposing alleles under investigation. Furthermore, molecular dynamics simulation performed on alleles revealed that position 70 is crucial in binding of MBP 85–99 peptide. All together, these data suggest that propensity to MS observed in Sardinian population carried by the various HLA-DRB1-DQB1 molecules can be due to functional peculiarity in the antigen presentation mechanisms. [ABSTRACT FROM AUTHOR]

Background: The limited availability of prevalence data based on a representative sample of the general population, and the limited number of diseases considered in studies about co-morbidity are the critical factors in study of autoimmune diseases. This paper describes the prevalence of 12 autoimmune diseases in a representative sample of the general population in the South of Sardinia, Italy, and tests the hypothesis of an overall association among these diseases. Methods: Data were obtained from 21 GPs. The sample included 25,885 people. Prevalence data were expressed with 95% Poisson C.I. The hypothesis of an overall association between autoimmune diseases was tested by evaluating the cooccurrence within individuals. Results: Prevalence per 100,000 are: 552 rheumatoid arthritis, 124 ulcerative colitis, 15 Crohn's disease, 464 type 1 diabetes, 81 systemic lupus erythematosus, 124 celiac disease, 35 myasthenia gravis, 939 psoriasis/psoriatic arthritis, 35 systemic sclerosis, 224 multiple sclerosis, 31 Sjogren's syndrome, and 2,619 autoimmune thyroiditis . An overall association between autoimmune disorders was highlighted. Conclusions: The comparisons with prevalence reported in current literature do not show outlier values, except possibly for a few diseases like celiac disease and myasthenia gravis. People already affected by a first autoimmune disease have a higher probability of being affected by a second autoimmune disorder. In the present study, the sample size, together with the low overall prevalence of autoimmune diseases in the population, did not allow us to examine which diseases are most frequently associated with other autoimmune diseases. However, this paper makes available an adequate control population for future clinical studies aimed at exploring the co-morbidity of specific pairs of autoimmune diseases. [ABSTRACT FROM AUTHOR]

Background: Sardinia is a known high-risk area for multiple sclerosis (MS), but no data for south-western Sardinia (SWS) are available. SWS has a genetically homogeneous population, apart from St Peter Island, and represents a peculiar environment related to the industrial, mineralogical and military economy.Objective: To estimate prevalence and incidence and to evaluate temporal trends and geographical distribution of MS in SWS.Methods: MS prevalence was evaluated on 31 December 2007 and crude mean annual incidence rate was defined between 2003 and 2007. Temporal trend in MS incidence was assessed using the Armitage test. To identify MS clusters, Standard Morbidity Ratio (SMR) was calculated for each village and geographical distribution prevalence by means of a Bayesian hierarchical model.Results: Total crude prevalence rate was 210.4 (95% CI 186.3–234.5): 280.3 (95% CI 241.4–319.3) for females, 138 (95% CI 110.1–165.8) for males. The crude mean annual incidence rate was 9.7/100,000 (95% CI 3.4–13.2): 4.7/100,000 (95% CI 2.4–17.0) and 14.6/100,000 (95% CI 11.8–34.8) for males and females respectively. MS incidence has increased over the last 50 years. Cluster analysis showed an SMR of 0.2 (95% CI 0.05–0.68, p = 0.002) on the island of San Pietro, and 2.0 (95% CI 1.35–2.95, p = 0.001) in Domusnovas. Spatial distribution of MS was confirmed by Bayesian geographical analysis.Conclusions: Our data confirm Sardinia as a high-risk area for MS and support the relevance of genetic factors in MS, as evidenced in St Peter Island. However, we found an unexpectedly high MS prevalence in one village, in particular in males, suggesting an environmental influence on MS occurrence. [ABSTRACT FROM AUTHOR]

Smoking represents an important world research issue because of its diffusion among people and its effects on health. This study analyses, according to gender and educational level, the prevalence of smoking, in order to highlight the relationship between sociocultural status and smoking. Prevalence was calculated, with reference to Italian national data in 2000, by dividing a weighted population of 38,720,629 into 10 five-year birth cohorts. Results suggest that smoking is no longer perceived as being socially acceptable behavior. The prevalence declines for both sexes and educational levels, but in low educational levels the decline is slower. The study limitations are noted. [ABSTRACT FROM AUTHOR]

We examined the influence of alleles at the HLA loci, previously found to be associated with multiple sclerosis (MS) in Sardinia, on the clinical course of the disease in 835 relapsing (R) and 100 primary progressive (PP) patients. Multivariate analysis was carried out on predisposing 0301 or non–associated DPB1 alleles, susceptible or non–associated DRB1–DQB1 haplotypes, both predisposing and non–predisposing, and negatively and non–negatively associated D6S1683 alleles, taking interaction between them into account. Intra–patient analysis showed that the presence of the susceptible or protective D6S1683 allele interacting with predisposing DP 0301 modulated risk of PP disease. These findings suggest that a locus telomeric to HLA class I exerts an effect on alleles at the DPB1 locus in modulating disease course. [ABSTRACT FROM AUTHOR]

Introduction: Increasing people's knowledge of transmission, prevention, early diagnosis, and available treatments is a key step toward HIV control; it means setting the conditions for empowerment and enabling individuals to make aware choices about the prevention strategy best suited to their needs. This study aims to identify unmet needs on HIV knowledge among freshman students., Methods: A cross sectional study was carried out at the University of Cagliari, which is an Italian public state university. Data were collected by means of an anonymous questionnaire; the final sample included 801 students., Results: Results offer a detailed picture of students' knowledge and perceptions of HIV. Several topics deserve to be better understood by students, but the main gaps relate to the pre-exposure prophylaxis and the decreased likelihood of sexually transmitting HIV due to early treatments. Students' vision of the quality of life of people living with HIV was negatively affected by perceiving as relevant the effects of HIV on physical health or on sexual/affective domains, while conversely, it seemed positively affected by knowing that current treatments are useful for counteracting physical symptoms and decreasing the possibility of transmitting HIV., Conclusion: Being aware of the potential benefits of current therapies could favour a less negative view, in line with the current state of the beneficial effects of HIV treatment. Universities are a valuable setting to bridge the HIV knowledge gap and thus also contribute to tackling stigma and actively promoting HIV testing., (©2022 Pacini Editore SRL, Pisa, Italy.)

This study aims to provide a picture of University of Cagliari students' alcohol-related behaviour and to explore factors associated with it. Data were collected by administering a questionnaire to 992 freshmen university students from different programs consisting of twelve closed questions, including three questions from the Alcohol Use Disorders Identification Test for Consumption (AUDIT-C short form). Three subgroups of alcohol-related behaviour were distinguished (risky drinkers, social drinkers and abstainers). In order to explore factors associated with patterns of alcohol consumption, a multivariate logistic regression was performed. The prevalence of risky drinkers was 35%. A binge-drinking behaviour at least once in the last twelve months was declared by 65% (more widespread in men and in students living away from their parents). Risky consumption is significantly associated with age of onset of alcohol use, living away from parents' home, drinking outside meals and attending health courses. Regarding the levels of daily alcohol consumption perceived as a health risk, 66% of men and 88% of women indicate values higher than those recommended. The results underline the need for tailored prevention measures. University could be a promising setting to implement actions according to a health promotion perspective, to empower students to control their alcohol consumption.

Employing the salutogenic model, we asked how individuals in different countries cope with the COVID-19 crisis and stay healthy. We were interested in exploring the individual (i.e. sense of coherence) as well as the social and national resources (i.e. social support, sense of national coherence, and trust in governmental institutions) that could explain levels of mental health and anxiety during the outbreak of the pandemic. Data collection was conducted via convenience sampling on online platforms, during the end of March and the beginning of April 2020. The data included four samples: 640 Israeli participants (319 males), 622 Dutch participants (177 males), 924 Italian participants (338 males) and 489 Spanish participants (117 males); age range of 18-88 years. The questionnaires included standard tools (MHC-SF, GAD-7, SOC, SONC). Several questions were adapted to the context of coronavirus and measured levels of exposure to COVID-19, trust in governmental institutions, and social support. The results significantly confirmed the suggested salutogenic model regarding the contribution to individual and national coping resources to anxiety levels and mental health. The patterns of the coping resources in explaining anxiety and mental health were similar in the four samples, and SOC was the main predictor these outcomes. Despite these similarities, a different pattern and also different magnitudes of the predictive value of the coping resources were found for the two different reactions: anxiety vs. mental health. While SOC and situational factors (like financial threat) were significant in explaining anxiety levels, the SOC and national resources were found as significant in explaining mental health levels. The findings support the salutogenic approach in studying reactions during pandemic time. They also shed some light on the difference between pathogenic and salutogenic measures in studying psychological reactions to stressful situations.

Background: The strongest genetic determinant for multiple sclerosis (MS) is located at the human leukocyte antigen (HLA) class II DRB1 and DQB1 loci., Objectives: To investigate the possible role of predisposing HLA genotypes in determining brain atrophy., Methods: HLA genotypes were categorized as high risk (two predisposing haplotypes) or medium/low risk (one or no predisposing haplotypes). Patients underwent a brain magnetic resonance imaging (MRI) study and volumes of white matter (WM), gray matter (GM), and whole brain (WB) were estimated with SIENAX. Longitudinal atrophy was also assessed with SIENA., Results: The study included 240 MS patients. In 51/240 (21%) subjects, a high-risk HLA genotype was observed, while medium- and low-risk HLA genotypes were 109/240 (45%) and 80/240 (34%), respectively. Multiple regression analysis found that the high-risk HLA genotype was associated with significant reduction in WB ( p = 0.02) and GM ( p = 0.03) volumes compared with the medium-/low-risk HLA genotypes, independently from MS clinical features. The longitudinal study included 60 patients and showed a brain volume loss of -0.79% in high-risk HLA genotype group versus -0.56% in low-risk HLA genotype., Conclusion: Our results suggest an influence of HLA genotype on WB and GM atrophy. Further investigations are necessary to confirm these findings.

Objectives: to explore clinicians vision on hospital discharge records in order to identify useful elements to foster a more accurate compiling., Design: qualitative research with phenomenological approach., Setting and Participants: participants were selected through purposive sampling among clinicians of two hospitals located in Sardinia; the sample included 76 people (32 medical directors and 44 doctors in training)., Main Outcome Measures: identified codes for themes under investigation: vision of accurate compiling, difficulties, and proposals., Results: collected data highlighted two prevailing visions, respectively focused on the importance of an accurate compiling and on the burden of such activity. The accurate compiling is hindered by the lack of motivation and training, by the limits of the registration system and the information technology, by the distortions induced by the prominent role of the hospital discharge records in the evaluation processes. Training, timely updating of the information system accompanied by a proper cross-cultural validation process, improvement of the computer system, and activation of support services could promote more accurate compiling., Conclusions: the implementation of services, unconnected with evaluation and control processes, dedicated to training and support in the compiling of the hospital discharge records and in the conduction of related epidemiological studies would facilitate the compliance to the compilation. Such services will make tangible the benefits obtainable from this registration system, increasing skills, motivation, ownership, and facilitating greater accuracy in compiling.

Background: Mycobacterium avium subspecies paratuberculosis (MAP) is associated with MS in Sardinia. Because anti-MAP antibodies (Abs) were more frequent in interferon-beta treated patients, we hypothesize that interferon-beta could interact with the immune system., Methods: Anti-MAP Abs were searched in the blood of 89 patients before commencing interferon-beta and after at least six months., Results: Anti-MAP Abs were detected before and during treatment in 18.7% and 34.7% of patients, respectively. Twenty-three (20.5%) patients became positive during therapy, and 5 (4.4%) patients became negative (p=0.001)., Conclusions: The study supports the hypothesis that interferon-beta could interact with the immune system, enhancing the immunological response against MAP., (Copyright © 2015 Elsevier B.V. All rights reserved.)

Introduction: Genetic predisposition to multiple sclerosis (MS) in Sardinia (Italy) has been associated with five DRB1*-DQB1* haplotypes of the human leukocyte antigen (HLA). Given the complexity of these associations, an in-depth re-analysis was performed with the specific aims of confirming the haplotype associations; establishing the independence of the associated haplotypes; and assessing patients' genotypic risk of developing MS., Methods and Results: A transmission disequilibrium test (TDT) of the DRB1*-DQB1* haplotypes in 943 trio families, confirmed a higher than expected transmission rate (over-transmission) of the *13:03-*03:01 (OR = 2.9, P = 7.6×10(-3)), *04:05-*03:01 (OR = 2.4, P = 4.4×10(-6)) and *03:01-*02:01 (OR = 2.1, P = 1.0×10(-15)) haplotype. In contrast, the *16:01-*05:02 (OR = 0.5, P = 5.4×10(-11)) and the *15:02-*06:01 (OR = 0.3, P = 1.5×10(-3)) haplotypes exhibited a lower than expected transmission rate (under-transmission). The independence of the transmission of each positively and negatively associated haplotype was confirmed relative to all positively associated haplotypes, and to the negatively associated *16:01-*05:02 haplotype. In patients, carriage of two predisposing haplotypes, or of protective haplotypes, respectively increased or decreased the patient's risk of developing MS. The risk of MS followed a multiplicative model of genotypes, which was, in order of decreasing ORs: *04:05-*0301/*03:01-*02:01 (OR = 4.5); *03:01-*02:01/*03:01-*02:01 (OR = 4.1); and the *16:01-*05:02/*16:01-*0502 (OR = 0.2) genotypes. Analysis of DRB1 and DQB1 protein chain residues showed that the Val/Gly residue at position 86 of the DRB1 chain was the only difference between the protective *16:01- *15:02 alleles and the predisposing *15:01 one. Similarly, the Ala/Val residue at position 38 of the DQB1 chain differentiated the positively associated *06:02 allele and the negatively associated *05:02, *06:01 alleles., Conclusions: These findings show that the association of specific, independent DRB1*-DQB1* haplotypes confers susceptibility or resistance to MS in the MS-prone Sardinian population. The data also supports a functional role for specific residues of the DRB1 and DQB1 proteins in predisposing patients to MS.

Mutations in the LRRK2 gene are the most common known cause of familial and sporadic Parkinson's disease (PD). Few studies performed to date to assess frequency of these mutations are actually only representative of specific areas. Here we study the frequency and clinical phenotype of LRRK2 G2019S, I2020T and R1441C/G/H mutations in 356 Sardinian patients with idiopathic PD and 208 controls. Seventeen additional subjects, relatives of PD mutated probands, were enrolled. Eight patients were mutated in heterozygosis for LRRK2 gene (2.3%): six carried the G2019S (1.7%) and two the R1441C (0.6%) mutation. Three PD patients G2019S carriers (50%) were detected in two contiguous villages comprising 3921 inhabitants while the other three (50%) were identified in the remaining population of 796,079 inhabitants. Only one mutated proband had a family history of PD. LRRK2 G2019S and R1441C mutations associated with PD were not an uncommon mutation in a Sardinian population, especially in sporadic PD patients. The detection of the G2019S variant in ten unaffected relatives confirms a reduced penetrance of the underlying mutation and might explain its prevalence among patients with sporadic PD. These findings may provide new insights into the importance of studies of frequency of LRKK2 mutations in PD patients originating from small ethnically homogeneous populations.

Objective: We studied age at onset (AAO) in order to assess the presence of different subgroups in a homogeneous genetic population, such as the Sardinian population., Methods: Admixture analysis was applied in order to identify a model of separate normal distribution of AAO characterized by different means, variances and population proportions to allow for evaluation of different subgroups in a sample of 181 unrelated patients of Sardinian origin with bipolar disorder (BP) type I. The Mann-Whitney test was used to compare the means of AAO between subjects with a history of suicide attempts and subjects with no such history., Results: The best-fitting model had three components with means (SD) of 18.1 (2.3), 24.3 (5.3) and 41 (11.5) years, comprising 36%, 39% and 25% of the sample, respectively. We obtained two cut-off points at 21 and 33 years, enabling the sample to be divided into three subgroups. The Mann-Whitney test revealed a difference between the mean AAO of subjects with a positive history of suicide attempts and that of subjects with no such history (p = 0.041)., Conclusions: We found three AAO sub-groups in our sample of BP I patients of Sardinian origin. Our findings add further support to the hypothesis whereby AAO acts as a clinical marker of biological heterogeneity in BP.

Background: To evaluate the association between mood and anxiety disorders and thyroid autoimmunity in a community sample., Methods: A community based sample of 222 subjects was examined. Psychiatric diagnoses were formulated using the International Composite Diagnostic Interview Simplified (CIDIS), according to DSM-IV criteria. All subjects underwent a complete thyroid evaluation including physical examination, thyroid echography and measure of serum free T4 (FT4), free T3 (FT3), thyroid-stimulating hormone (TSH) and anti-thyroid peroxidase autoantibodies (anti-TPO)., Results: 16.6% of the overall sample had an anti-TPO value above the normal cut-off. Subjects with at least one diagnosis of anxiety disorders (OR = 4.2, C.L. 95% 1.9-38.8) or mood disorders (OR = 2.9, Cl 95% 1.4-6.6, P < 0.011) were positive for serum anti-TPO more frequently than subjects without mood or anxiety disorders. A statistically significant association with anti-TPO+ was found in Anxiety Disorder Not Otherwise Specified (OR = 4.0, CL 95% 1.1-15.5), in Major Depressive Episode (OR = 2.7, CL 95% 1.1-6.7) and Depressive Disorder Not Otherwise Specified (OR = 4.4, S CL 95% 1-19.3)., Conclusions: The study seems to suggest that individuals in the community with thyroid autoimmunity may be at high risk for mood and anxiety disorders. The psychiatric disorders and the autoimmune reaction seem to be rooted in a same (and not easy correctable) aberrancy in the immuno-endocrine system. Should our results be confirmed, the findings may be of great interest for future preventive and case finding projects.

A survey on public perceptions about environmental risk was carried out in the industrial area of Portoscuso. The aim was to obtain information on how citizens correlate industrial risk exposure to adverse health effects, in order to plan effective risk communication strategies. Perceptions were found to vary among the population: some citizens do not believe any hazards from industrial pollution exist, others consider adverse health effects as an inevitable consequence of industrial pollution, still others believe in the role of individual factors. Effective risk communication strategies should increase the population's knowledge about environmental risks, so as to enable individuals to achieve a balance between normal concern for possible health hazards and excessive alarm, and to encourage public awareness and participation.