Southern Italy Population Research Articles

Characterization by polygenic risk score of a dysmetabolic population of Southern Italy

Characterization by polygenic risk score of a dysmetabolic population of Southern Italy

WED-521 - Evaluation of genetic risk score of a dysmetabolic and obese population of southern Italy

WED-521 - Evaluation of genetic risk score of a dysmetabolic and obese population of southern Italy

Estimation of the correlation between the social determinants and the obesity during the pre-adolescent age of the apulian population in Southern Italy

Estimation of the correlation between the social determinants and the obesity during the pre-adolescent age of the apulian population in Southern Italy

Retinal Microvasculature and Neural Changes and Dietary Patterns in an Older Population in Southern Italy.

Like other parts of the body, the retina and its neurovascular system are also affected by age-related changes. The rising age of populations worldwide makes it important to study the pathologies related to age and their potential risk factors, such as diet and eating habits. The aim of this study was to investigate the predictive power of food groups versus retinal features among noninstitutionalized older adults from Southern Italy using a machine learning approach. We recruited 530 subjects, with a mean age of 74 years, who were drawn from the large population of the Salus in Apulia Study. In the present cross-sectional study, eating habits were assessed with a validated food frequency questionnaire. For the visual assessment, a complete ophthalmic examination and optical coherence tomography-angiography analyses were performed. The analyses identified 13 out of the 28 food groups as predictors of all our retinal variables: grains, legumes, olives-vegetable oil, fruiting vegetables, other vegetables, fruits, sweets, fish, dairy, low-fat dairy, red meat, white meat, and processed meat. Eating habits and food consumption may be important risk factors for age-related retinal changes. A diet that provides the optimal intake of specific nutrients with antioxidant and anti-inflammatory powers, including carotenoids and omega-3 fatty acids, could have beneficial effects.

Genetic characterization of a dysmetabolic and obese population of Southern Italy

Genetic characterization of a dysmetabolic and obese population of Southern Italy

Serum levels of IL-6 are associated with cognitive impairment in the salus in apulia population-based study

Growing evidence suggests that inflammation contributes to brain aging and neurodegeneration. This study investigates the relationship between global cognitive as well executive function and the inflammatory markers IL-6, CRP, and TNF-α in a population-based study of older adults. A population-based sample, of older people in Southern Italy, was enrolled. We measured serum levels of IL-6, CRP, and TNF-α. We also administered two neuropsychological tests: Mini-Mental State Examination and Frontal Assessment Battery. Rank-based regression models were performed to investigate the relationship between inflammatory markers and cognitive functions, including major demographic and clinical confounders for adjustment. The sample consisted of 1929 subjects aged between 65 and 95 years. Multivariate linear regression analysis revealed that higher serum levels of IL-6 were associated with lower MMSE and FAB scores even after adjustment for demographic data and cardiovascular risk factors. No significant associations were found between cognitive functioning and serum levels of CRP and TNF-α. Our results suggest that higher levels of IL-6 were associated with cognitive impairment in an older adult population of Southern Italy.

Una „razza mediterranea“?

Abstract This article reconstructs the anthropological debate on the Southern question, focusing on the decade between 1897 and 1907 and on three protagonists: the statistician and criminologist Alfredo Niceforo, the economist and politician Napoleone Colajanni and the anthropologist and psychologist Giuseppe Sergi. Sergi’s theories on the Mediterranean „race“, its African origin and role in the population and above all in the process of civilization of the European continent were used to support opposing positions: Niceforo referred to them to affirm the backwardness of the population of Southern Italy; Colajanni, by contrast, employed them to defend the dignity of the inhabitants of the South, against the advocates of the superiority and inferiority of different „races“. The analysis of these discussions shows how anthropologists and ethnologists, playing on the delicate balance between „race“ and „environment“, contributed – in often contradictory ways – to the socio-political project of defining Italian national identity in the early decades after Unification.

Cluster Analysis Method Reveals Gender Attitudes in Sociosexual Orientation of a Southern Italy Population During the COVID-19 Lockdown.

IntroductionThe COVID-19 epidemic and its lockdown dramatically impacted the general well-being of the population and affected sociosexual experiences, thus modifying sexual behavior, desire, and well-being. Clustering analysis has not yet been applied to research and data investigating sociosexuality. The cluster analysis method could be a valid support for clinicians in investigating the condition of a population with respect to problems related to sociosexuality. The aim of the present study was to analyze the different perceptions of the sociosexual experiences in southern population during the COVID-19 pandemic.MethodsWe enrolled 734 (450 female) participants with a carried out anonymous web-based survey from the 16th of April 2020 to the 3rd June of 2020. The revised Sociosexual Orientation Inventory (SOI-R) is a self-report test assessing three theoretically meaningful facets of sociosexual orientation (behavior, attitude, and desire).ResultsWe found eleven clusters, and the findings showed, for the first time, an intra- and inter-diagnostic heterogeneity in the sexual profile of participants. Theoretically, we identified subtype clusters whose sexual attitude was to avoid sexual promiscuity with significant gender differences. Women show a greater propensity for attitude and desire facet than men.ConclusionsOur new method of unsupervised learning could represent a reliable tool to support socio-cultural analysis studies on issues influenced by cultural mechanisms in a quick and explanatory way, as in the case of sexual orientation and attitude differences between men and women. Social and Policy ImplicationsUnderstanding these gaps is fundamental for policy makers, managers of social networks, those who deal with engaged couples and families, and sexuality starting from the very youngest adolescents. We claim to devise a strategy to measure how much a sexist culture implicitly and explicitly limits the freedom of sexual expression and how this can affect psycho-sexual well-being in a society.Supplementary InformationThe online version contains supplementary material available at 10.1007/s13178-022-00771-2.

Estimating the 18-Year Threshold with Third Molars Radiographs in the Southern Italy Population: Accuracy and Reproducibility of Demirjian Method.

The estimation of the age of the majority of living subjects is widely required nowadays due to the presence of unidentifiable individuals, without documents and general information, involved in migration or legal procedures. Dental age estimation (DAE) is a valid method for investigating the age of subjects. The aim of this study was to evaluate the accuracy of the Demirjian method in a limited age group (16–24 years) in differentiating between older and younger than 18 years. From an initial sample of 17,594 radiographs, 460 were selected meeting the inclusion criteria. Two dentists provided the age estimate according to the Demirjian method, with a simplified approach based on the development of the third molars. The presence of a developmental stage of H for at least one third molar allowed to establish the major age if the other third molars, inferior or superior, have reached a stage equal or superior to F, with an accuracy of 90.2% and a predictive positive value of 91.6%. Thirty-three patients showed the development of at least one third molar (Stage H) before the age of 18 years while six patients showed the development of all four third molars with root completion (stage H) before the age of 18 years. When all third molars reached stage H an individual was over 18 years old in 97.4% of cases. In presence of one third molar on stage H and a stage equal or superior to F for the other third molars the probability of being of major age was 91.6%.

Potential importance of wind patterns and guidance opportunities for the conservation of the Egyptian Vulture Neophron percnopterus in Italy

Summary Movement ecology and environmental factors are topics of paramount importance to consider when planning conservation programmes for target species. Here we discuss this topic by reviewing the available information related to the Egyptian Vulture Neophron percnopterus, with reference to the remnant breeding population of Southern Italy, of high conservation concern and subject of a long-term captive-breeding re-stocking programme. We describe how adverse wind conditions over the Central Mediterranean Sea make the sea-crossing challenging with detrimental effects on the survival of inexperienced birds, and coupled this information with count data of migrating Egyptian Vultures. Furthermore, we indicate how low population size and scarce opportunities in meeting migrating conspecifics could potentially lead juvenile Egyptian Vultures to follow unfavourable migratory routes, with possible repercussions on survival. We postulate how these concomitant factors could be indirectly influencing the long-term survival of this small population, principally affected by anthropogenic threats. We also discuss how the same factors could actually be affecting captive-bred young individuals released in late summer in southern continental Italy, in the framework of the restocking programme. An integrative approach with tailor-made release methods, which also takes into account the age of released birds and geographical and environmental factors, would likely be useful for a more goal-oriented and long-lasting conservation outcome, for the preservation of this endangered scavenger.

Evaluation of allelic frequency and genetic risk score of non-alcoholic fatty liver disease in a population of Southern Italy

Background and Aims: Non-alcoholic fatty liver disease (NAFLD) is the leading cause of liver diseases, ranging from simple steatosis to non-alcoholic steatohepatitis (NASH). The risk of developing NAFLD is highly variable among individuals and determined by environmental and genetic factors. GWAS studies identified several genetic risk factors, and genetic risk scores (GRS) were developed for risk stratification. NAFLD susceptibility is significantly associated with four genetic variants: PNPLA3 rs738409 C>G, TM6SF2 rs58542926 C>T, rs641738 C>T close to MBOAT7 locus, GCKR rs1260326 C>T.

Association of Neuroretinal Thinning and Microvascular Changes with Hypertension in an Older Population in Southern Italy

Background: Retinal microvasculature assessment at capillary level may potentially aid the evaluation of early microvascular changes due to hypertension. We aimed to investigate associations between the measures obtained using optical coherence tomography (OCT) and OCT-angiography (OCT-A) and hypertension, in a southern Italian older population. Methods: We performed a cross-sectional analysis from a population-based study on 731 participants aged 65 years+ subdivided into two groups according to the presence or absence of blood hypertension without hypertensive retinopathy. The average thickness of the ganglion cell complex (GCC) and the retinal nerve fiber layer (RNFL) were measured. The foveal avascular zone area, vascular density (VD) at the macular site and of the optic nerve head (ONH) and radial peripapillary capillary (RPC) plexi were evaluated. Logistic regression was applied to assess the association of ocular measurements with hypertension. Results: GCC thickness was inversely associated with hypertension (odds ratio (OR): 0.98, 95% confidence interval (CI): 0.97–1). A rarefaction of VD of the ONH plexus at the inferior temporal sector (OR: 0.95, 95% CI: 0.91–0.99) and, conversely, a higher VD of the ONH and RPC plexi inside optic disc (OR: 1.07, 95% CI: 1.04–1.10; OR: 1.04, 95% CI: 1.02–1.06, respectively) were significantly associated with hypertension. Conclusion: A neuroretinal thinning involving GCC and a change in capillary density at the peripapillary network were related to the hypertension in older patients without hypertensive retinopathy. Assessing peripapillary retinal microvasculature using OCT-A may be a useful non-invasive approach to detect early microvascular changes due to hypertension.

The diagnostic accuracy of late-life depression is influenced by subjective memory complaints and educational level in an older population in Southern Italy

The prevalence of late-life depression (LLD) depends on the study sample, measurements, and diagnostic approaches. We estimated the 30 item-Geriatric Depression Scale (GDS-30) accuracy against the gold standard LLD diagnosis made with the Semi-structured Clinical Diagnostic Interview for DSM-IV-TR Axis I Disorders, focusing on the prevalence of a late-life major depressive disorder (MDD), in a population-based sample of 843 subjects aged>65 years, subdivided into three groups: normal cognition, subjective memory complaints, and mild cognitive impairment. At the optimal cut-off score (≥4), the GDS-30 showed 65.1% sensitivity and 68.4% specificity for LLD (63% and 66% for late-life MDD, respectively). Using the standard cut-off score (≥10), the GDS-30 specificity reached 91.2%, while sensitivity dropped to 37.7%, indicating a lower screening accuracy [area under the curve(AUC):0.728, 95% confidence interval(CI):0.67–0–78]. The GDS-30 performance was associated with educational level, but not with age, gender, cognition, apathy, and somatic/psychiatric multimorbidity. For subjective memory complaints subjects, at the optimal cut-off score (≥7), the GDS-30 showed better discrimination performances (AUC=0.792,95%CI:0.60–0.98), but again the educational level affected the diagnostic performance. In subjective memory complaints subjects, symptom-based scales like the GDS-30 may feature a better performance for diagnosing depression in older age, but the GDS-30 seems to require adjustment to the patient's educational level.

Relationships between Obstructive Sleep Apnea Syndrome and cardiovascular risk in a naïve population of southern Italy.

BackgroundObstructive sleep apnea (OSA) is a worldwide increasing syndrome, which, by promoting endothelial dysfunction, contributes to extend the cardiovascular risk. We evaluated the cardiovascular risk in a group of OSA patients.MethodsA total of 185 OSA subjects (19 normal weight, 57 overweight, 109 obese), who entered the Ambulatory of Sleep Disorders of the Institute of Respiratory Diseases of the University of Bari, during 1 year, were enrolled in the study. We assessed anthropometric features, polysomnographic findings, cardiovascular risk factors, smoking habit, Pulmonary Function Test, Arterial Blood Gas Analysis, Epworth Questionnaire, and Charlson Co‐morbidities Index (CCI). Subjects were divided into three groups, according to their BMI: individuals with BMI ≥30 kg/m2 (Group 1 n = 109, mean age 61 ± 1; 74.3% men), individuals with BMI ranging from 25.0 to 29.9 kg/m2 defined as overweight subjects (Group 2 n = 57, mean age 58.8 ± 1.4; 77% men), and subjects with a BMI ranging from 18.5 to 24.9 kg/m2 defined as normal weight subjects (Group 3 n = 19, mean age 54.2 ± 2.3; 64,2% men).ResultsIn the whole population, the percentage cardiovascular risk was weakly related with BMI (r = 0.33; P < .001), but not with AHI. The cardiovascular risk was strictly related to the obesity (P < .00002), while the Epworth Questionnaire score and the Charlson Co‐morbidity Index were respectively statistically higher in the group of obese individuals (P = .004, P = .0002) than in the other two sub‐groups. When AHI values were stratified in tertiles, the percentage cardiovascular risk did not vary with increasing AHI values (Figure 2).ConclusionsFurther studies are required to investigate the pivotal role of inflammation resulting from obesity, and underlying increased cardiovascular risk in OSA patients.

Associated screening for HCV and SARS-Cov2 infection in an urban area of Southern Italy: A cohort study.

The SARS-Cov2 pandemic led to reorganize the clinical activities in Italy, reducing the available resources to manage other diseases. In particular,important milestones achieved towards HCV elimination are now at risk of being nullified. Moreover, the burden of SARS-Cov2 asymptomatic carriers remains still an unresolved issue. To associate those two screenings, in order to respond to these clinical needs seems of actual interest. A prospective cohort study was set-up in an urban area of the Naples province, in which a contemporary screening for HCVAb and SARS-Cov-2-Ab rapid blood tests was performed. Of the 3556 eligible subjects,2740(77.05%) participated.Of them,1.4% resulted SARS-Cov2-positive, none resulting positive for SARS-Cov2-RNA, whereas 1.5% were HCVAb-positive and 0.18% HCVRNA-positive. Of those HCVAb positive,87.8% were already aware and treated in 88.8% of cases .Of the other 4 patients aware of their positivity,2(50%) were HCVRNA-positive. Of the 5 HCVAb-positive unaware of their positivity, 2 were HCVRNA-positive. HCVAb-positivity was only detected in patients of >41 years. The screening in an urban area of Southern Italy showed a seroprevalence of SARS-Cov2-Ab and HCV-Ab of 1.4% and 1.5%, respectively,whereas 0.18% had an active HCV infection. This demonstrates how the pandemic can be an opportunity to promote prevention activities for HCV.

Spectrum of Germline Pathogenic Variants in BRCA1/2 Genes in the Apulian Southern Italy Population: Geographic Distribution and Evidence for Targeted Genetic Testing.

Simple SummaryBRCA1 and BRCA2 are two major high-penetrance breast/ovarian cancer predisposition genes, whose mutations can lead to high risk and early onset of breast and ovarian cancer. Numerous studies are focused on spectrum and prevalence of BRCA1/2 mutations worldwide. This is the first study that exclusively focused on native Apulian probands. We found that ten recurrent BRCA1/2 pathogenic variants account for more than half of the patients with proven HBOC syndrome from Apulia. Besides BRCA1 c.5266dupC, which is present in significant numbers in every Apulian province, the other PVs occur at a high frequency in some areas and not others. In-depth knowledge of the mutation spectrum of the target population and of the relatively small number of recurrent mutations is crucial to develop a specific cost-effective strategy for mutation screening and a program for breast–ovarian cancer control and prevention through more liberal, yet rational, genetic testing and counseling.BRCA1/2-associated hereditary breast and ovarian cancer is the most common form of hereditary breast and ovarian cancer and occurs in all ethnicities and racial populations. Different BRCA1/BRCA2 pathogenic variants (PVs) have been reported with a wide variety among populations. In this study, we retrospectively analyzed prevalence and geographic distribution of pathogenic germline BRCA1/2 variants in families from Apulia in southern Italy and evaluated the genotype–phenotype correlations. Data were collected from Oncogenetic Services present in Apulian hospitals and a shared database was built containing Apulian native probands (n = 2026) that had undergone genetic testing from 2004 to 2019. PVs were detected in 499 of 2026 (24.6%) probands and 68.5% of them (342 of 499) were in the BRCA1 gene. We found 65 different PVs in BRCA1 and 46 in BRCA2. There were 10 most recurrent PVs and their geographical distribution appears to be significantly specific for each province. We have assumed that these PVs are related to the historical and geopolitical changes that occurred in Apulia over time and/or to a “founder effect”. Broader knowledge of BRCA1/2 prevalence and recurring PVs in specific geographic areas could help establish more flexible genetic testing strategies that may enhance our ability to detect high-risk subjects.

Clinical and genetic features of maturity-onset diabetes of the young in pediatric patients: a 12-year monocentric experience

BackgroundA retrospective observational study was conducted to assess the prevalence of maturity onset diabetes of the young (MODY) in a large paediatric population of Southern Italy newly diagnosed with diabetes. Clinical and genetic features of the identified MODY patients were also described.MethodsGenetic testing was performed in children and adolescents newly diagnosed with diabetes who presented autoantibody negativity and fasting C-peptide levels ≥ 0.8 ng/mL. Patients with a low insulin daily dose and optimal glycaemic control after two years from diabetes onset were also investigated for monogenic diabetes, regardless of their autoimmunity status and/or C-peptide levels.ResultsA prevalence of 6.5% of MODY was found. In particular, glucokinase-MODY was the most common type of MODY. The mean age at diagnosis was 9.1 years. Clinical presentation and biochemical data were heterogeneous also among patients belonging to the same MODY group.ConclusionsWe found a relatively high prevalence of MODY among paediatric patients with a new diagnosis of diabetes in comparison to literature data. Our findings highlight that a more detailed clinical evaluation along with easier and less expensive approachability to genetic testing may allow diagnosing an increasing number of MODY cases. A correct, prompt diagnosis is crucial to choose the most appropriate treatment and offer adequate genetic counselling.

Characterisation of asymptomatic patients and efficacy of preventive measures for SARS-CoV-2 infection in a large population of Southern Italy: a cohort study

BackgroundThe SARS-CoV-2 pandemic has infected millions of people and has caused more than 2.30 million deaths worldwide to date. Several doubts arise about the role of asymptomatic carriers in virus...

Exploring the Willingness to Accept SARS-CoV-2 Vaccine in a University Population in Southern Italy, September to November 2020.

Understanding whether members of the university population are willing to receive a future vaccination against COVID-19 and identifying barriers may help public health authorities to develop effective strategies and interventions to contain COVID-19. This cross-sectional study explored the willingness to accept a future SARS-CoV-2 vaccine in a university population in Southern Italy. The perceived risk level of developing COVID-19 was 6.5 and it was significantly higher among females, younger subjects, and those who agreed/strongly agreed that COVID-19 is a severe disease. Only 21.4% of respondents were not worried at all regarding the safety of the vaccine. Males, not being married/cohabitant, being a faculty member, those who perceived a lower risk of developing COVID-19, and those who did not need information regarding the vaccination against COVID-19 were significantly more likely to have no concern at all regarding the safety of the vaccine. The vast majority (84.1%) were willing to receive a future vaccine against COVID-19. Almost coherently with predictors of concern on the safety of the vaccine, being male, not being married/cohabitant, being a faculty member, not being concerned at all that COVID-19 vaccination might not be safe, and agreeing that COVID-19 can have serious health consequences were significant predictors of the willingness to receive the vaccine against COVID-19. A considerable proportion of the population had a positive willingness to receive the future COVID-19 vaccine, although some concerns have been expressed regarding the effectiveness and safety and public health activities seem necessary to achieve the rate that can lead to the protection of the community.

Association Between Central and Peripheral Age-Related Hearing Loss and Different Frailty Phenotypes in an Older Population in Southern Italy

The association between age-related hearing loss (ARHL) and physical or cognitive frailty has been poorly explored. These associations could define new perspectives for delaying frailty-related processes in older age. To examine whether peripheral ARHL and age-related central auditory processing disorder (CAPD) are independently associated with physical or cognitive frailty. This cross-sectional study analyzed registry data from December 31, 2014, on 1929 older (≥65 years) participants of the Salus in Apulia Study (Southern Italy) who underwent audiologic, physical, and neuropsychological assessment. Data analysis was performed from December 12, 2019, to January 4, 2020. Prevalence of peripheral ARHL in older individuals with physical and/or cognitive frailty and those without frailty assessed using the Fried criteria (physical) and the Mini-Mental State Examination (cognitive). Multivariable logistic regression models were used to assess associations of audiologic variables with frailty phenotype. Data from 1929 participants (mean [SD] age, 73.6 [6.3] years; 974 male [50.5%]) were eligible for the analyses. The prevalence of peripheral ARHL was higher in the physical frailty group (96 [26.6%]) than in the nonfrail group (329 [21.0%]) (difference, 5.61 percentage points; 95% CI, 0.63-10.59 percentage points) and in the cognitive frailty group (40 [38.8%]) than in the nonfrail group (385 [21.1%]) (difference, 17.75 percentage points; 95% CI, 8.2-27.3 percentage points). Age-related CAPD was more prevalent in the physical frailty group (62 [17.2%]) than in the nonfrail group (219 [14.0%]) (difference, 3.21 percentage points; 95% CI, -1.04 to 7.46 percentage points) and in the cognitive frailty group (28 [27.2%]) than in the nonfrail group (253 [13.9%]) (difference, 13.33 percentage points; 95% CI, 4.10-22.21 percentage points). In the multivariable models, age-related CAPD was associated with cognitive frailty in the fully adjusted model (odds ratio [OR], 1.889; 95% CI, 1.094-3.311). There was also an inverse association between the unitary increase in Synthetic Sentence Identification With the Ipsilateral Competitive Message scores, indicating a lower likelihood of this disorder, and cognitive frailty (OR, 0.989; 95% CI, 0.988-0.999). Peripheral ARHL was associated with cognitive frailty only in the partially adjusted model (OR, 1.725; 95% CI, 1.008-2.937). In this cross-sectional study of 1929 participants, age-related CAPD was independently associated with cognitive frailty. Whether the management of ARHL may help prevent the development of different frailty phenotypes or improve their clinical consequences should be addressed in longitudinal studies and, eventually, well-designed randomized clinical trials.