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In a national sample of the Italian population, surveyed four times between October 2002 and January 2007 (N = 2,008), we performed a multilevel longitudinal study aimed at predicting the increase in crime risk perception as a function of three families of independent variables, respectively lying at the within individual level (direct victimization and indirect victimization), at the between-individuals level (being a woman, being an older person, being a poorly educated person and size of area of residence) and at the ecological level (county's crime rate, unemployment rate and immigration rate). Direct and indirect victimization, being a woman, being an older person, living in a large town and in a context characterized by high crime and unemployment rates positively influenced the change in crime risk perception, while the other individual and ecological predictors we used in our predictive model did not. Strengths, limitations, implications and future developments of this research are discussed.

In a representative sample of the Italian population (N=2,002), surveyed in January 2008, we studied the direct and interactive effects exerted on fear of crime by direct and indirect victimization, on the one hand, and perceived level of disorder of participants' community, on the other hand. Indirect victimization fostered fear of crime among participants reporting high levels of social disorder in their community. However, direct and indirect victimization did not influence fear of crime among participants reporting not living in a disordered community. Implications and limitations of this work and possible further research directions are discussed. (Contains 1 figure and 1 table.)

We studied the relationship between victimization and fear of crime longitudinally, analyzing data from the Observatory of the North-West (Italian national sample, N = 1,701, two waves: January 2006 and January 2007). We modeled fear of crime at T[subscript 2] using as independent variables: (a) the main sociodemographic variables and fear of crime, as assessed at T[subscript 1]; (b) direct victimization; and (c) indirect victimization. Recent direct victimization was the most effective victimization predictor of both concrete and abstract fears, followed by multiple or repeat direct victimization. On the other hand, direct victimization occurring in the 12 months before the first wave did not influence fear. Recent indirect victimization and, above all, multiple or repeat indirect victimization influenced concrete, but not abstract, fear of crime, while direct victimization occurring in the 12 months before the first wave did not foster fear. We discuss the limits of this work and possible further directions. (Contains 5 tables and 4 footnotes.)

Simple Summary: Beckwith-Wiedemann syndrome (BWSp) has recently been renamed to spectrum to reflect its diverse presentation and clinical features. In 2018, an international consensus developed a diagnostic approach and redefined clinical criteria, establishing a score above which a diagnosis can be made in case of a negative genetic test. We described a cohort of 831 patients to validate the efficacy of the 2018 consensus score for BWSp diagnosis, and to gather data on the performance of previous and current scoring systems, as well as the relationship between BWSp features, molecular tests, and the risk of cancer development. Different scoring systems for the clinical diagnosis of the Beckwith–Wiedemann spectrum (BWSp) have been developed over time, the most recent being the international consensus score. Here we try to validate and provide data on the performance metrics of these scoring systems of the 2018 international consensus and the previous ones, relating them to BWSp features, molecular tests, and the probability of cancer development in a cohort of 831 patients. The consensus scoring system had the best performance (sensitivity 0.85 and specificity 0.43). In our cohort, the diagnostic yield of tests on blood-extracted DNA was low in patients with a low consensus score (~20% with a score = 2), and the score did not correlate with cancer development. We observed hepatoblastoma (HB) in 4.3% of patients with UPD(11)pat and Wilms tumor in 1.9% of patients with isolated lateralized overgrowth (ILO). We validated the efficacy of the currently used consensus score for BWSp clinical diagnosis. Based on our observation, a first-tier analysis of tissue-extracted DNA in patients with <4 points may be considered. We discourage the use of the consensus score value as an indicator of the probability of cancer development. Moreover, we suggest considering cancer screening for negative patients with ILO (risk ~2%) and HB screening for patients with UPD(11)pat (risk ~4%). [ABSTRACT FROM AUTHOR]

Background: Congenital hypothyroidism (CH) is the most frequent congenital endocrine disorder. The purpose of the present study was to evaluate the incidence and etiological classification of CH in Apulia in a three-year period according to the reorganization of the regional screening program in a single central laboratory, as well as to analyze the growth characteristics and the associated risk factors of the CH newborns diagnosed during the study period. Methods: Data derived from the reorganization of the newborn screening program for CH in a single central laboratory that collects dried blood spot (DBS) from 27 Maternity Hospitals are analyzed over a three-year period. Birth weight and length, daily dose of L-T4 at specific key points (3, 6, 12 and 18 months, 2, 2.5 and 3 years) were also obtained from medical records of the CH newborns during the study period and calculated as standard deviation score (SDS). Results: The screening program diagnosed 90 newborns with confirmed CH (incidence 1:990; recall rate: 3.6%). In detail, 75.6% newborns had an eutopic thyroid, and 24.4% had thyroid dysgenesis; 33 out of the 90 newborns (36.6%) had one or more risk factors. Among these, the multiple pregnancies are the most important because they tripled the risk of CH. At diagnosis, TSH levels were different between patients with dysgenesis and those with an eutopic thyroid (p = 0.005). Treatment was started at a mean of 18.5 ± 12.8 days of life. The mean starting dose of levothyroxine (L-T4) was 11.38 ± 2.46 μg/kg/day. Conclusions: The results of these study show an increase of CH cases in newborns with an eutopic thyroid compared to the traditional classification. The centralization of the screening program allows a closer cooperation between laboratory and clinical centers and facilitates the implementation of appropriate diagnostic evaluations and timely initiation of treatment, with positive effects on the management of the condition. [ABSTRACT FROM AUTHOR]

The article evaluates "A new look on politicized reticence to vaccination: populism and COVID-19 vaccine refusal" published in Psychological Medicine examines the association between populist orientation and COVID-19 vaccine refusal. The study finds that individuals with a populist orientation are more likely to refuse the COVID-19 vaccine, highlighting the need for targeted strategies to address vaccine hesitancy within this group.

In two quasi-experimental vignette studies, we have analyzed how societal threat to safety moderates the relation between right-wing authoritarianism (RWA) and psychological distress. In Study 1 (Italian community sample, N = 343), we focused on depressive symptoms (measured with the Center for Epidemiologic Studies Depression Scale and the General Health Questionnaire). Two moderated regressions showed that the relation between RWA and both measures of depressive symptoms was positive and significant only among people exposed to a socially threatening scenario. In Study 2 (Italian student sample, N = 219), we focused on state anxiety and replicated Study 1's results. The findings indicated that, in conditions of societal threat to safety, RWA is a risk factor for psychological distress. Strengths, limitations, and possible developments of this research are discussed. [ABSTRACT FROM AUTHOR]

This methodological study was conducted to test the psychometric properties of the Jefferson Scale of Empathy- Health Professional Student's version ( JSE-HPS), in a convenience sample of 797 Italian nursing students and to describe their empathic engagement. Data were subjected to exploratory and confirmatory factor analysis, test-retest, correlation analysis, t-test, and analysis of variance method. Principal component factor extraction with Oblimin rotation on the first half of the sample was conducted. The analysis suggested a three-factor solution for 14 items: 'compassionate care/emotional engagement,' 'perspective-taking,' and 'standing in the patient's shoes.' Confirmatory factor analysis on the second half of the sample showed good fit indexes for the 14-item solution, indicated by the exploratory factor analysis, and the 20 item solution of the scale, with the exception of one item. Test-retest correlation was 0.50 ( P < 0.001) for the overall scale. Results from group comparisons and correlations are also provided and discussed. The Italian version of the JSE-HPS is a psychometrically sound tool. The translated 20-item solution is also suitable to carry out cross-cultural comparisons. [ABSTRACT FROM AUTHOR]

Past research adopting a configural approach to organisational commitment has yielded support for differentiated profiles (i.e. different combinations of different levels of commitment components) and for their relationship with attitudinal and behavioral outcomes. The present study aimed to: (a) investigate, in an Italian privatised organisation, the emergence of commitment profiles derived from the combination of affective (AC) and continuance (CC) organisational commitment, following Sinclair and colleagues' conceptualisation (2005); and (b) examine whether these profiles differed in absenteeism, as an objective outcome, job satisfaction, and job performance. Results from cluster analysis supported the presence of four groups (Allied, Free Agents, Trapped, and Complacent). The Allied and the Complacent profiles reported higher job satisfaction. Moreover, the Complacent profile displayed the highest job performance and the Allied showed the lowest level of absenteeism; both were significantly different from the Trapped profile. Implications for theory and practice are discussed. [ABSTRACT FROM AUTHOR]

Using a multilevel, longitudinal model, we tested the mugging thesis, which states that 'a conservative is a liberal who has been mugged', in a national sample of Italians (N = 457, nested in 54 counties) surveyed four times between October 2002 and January 2007. We predicted participants' increase in conservatism as a function of the cross-level interactions between criminal victimisation on the one hand and the unemployment and the crime rates for their areas of residence on the other. Conservatism increased among victimised participants living in areas characterised by high unemployment rates, but not among those living in areas with low unemployment rates. The cross-level interaction between victimisation and crime rate did not influence our dependent variable. The strengths, implications and limitations of this research are discussed. Copyright © 2013 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

The studies presented here focus on the relationship between legitimizing ideologies and ambivalent sexism. 544 Italian students (Study 1) and 297 US students (Study 2) completed several scales: social dominance orientation (SDO), system justification (SJ), political orientation, religiosity, and the Glick and Fiske (J Pers Soc Psychol 70(3):491-512, ) Ambivalent Sexism Inventory. Zero-order correlations revealed all facets of ideological attitudes to be positively related to each other and correlated with ambivalent sexism. In particular, the SDO was related to both ideology components of SJ and political orientation and to ambivalent sexism (hostile and benevolent). Moderated regressions revealed that SDO has a positive impact on hostile sexism for men only, while SJ has a positive impact on hostile sexism for women only. While the first result was stable across the two studies, the last moderated effect has been detected only in Study 1. We discuss the results with respect to different facets of social ideologies and cultural differences between the two countries. [ABSTRACT FROM AUTHOR]

Beckwith-Wiedemann syndrome (BWS), an overgrowth disorder with several congenital abnormalities, encompasses nephrourological anomalies. The objective of the report is to analyze the latter and related genotype-phenotype correlations. The study was a retrospective review of nephrourological investigations and genotype in 67 BWS patients. Imaging and laboratory studies have been correlated with the molecular anomalies typical of BWS. Thirty-eight (56.7%) patients had a total of 61 nonmalignant nephrourological findings, including nephromegaly ( n = 24), collecting system abnormalities ( n = 14), cryptorchidism ( n = 11), nephrolithiasis ( n = 5), cysts ( n = 5), and dysplasia ( n = 1). Four patients had Wilms' tumor, all associated with renal hyperplasia. Renal findings were almost consistent in the BWS group, with nephromegaly in all patients and collecting system abnormalities in half of them. BWS and negative patients also had frequent anomalies (63.6% and 61.9% respectively), whereas only 36.0% of BWS had renal findings ( p = 0.003). Cryptorchidism was associated with abdominal wall defects ( p < 0.001) appearing more frequently in BWS ( p = 0.028). Urinary tract infections were observed in 17.9% of patients, with two resulting in life-threatening sepsis. Hypercalciuria was present in 10% of cases. 55.5% of BWS patients have renal findings. Although variegate, these anomalies disclose a genotype-phenotype correlation. [ABSTRACT FROM AUTHOR]

In a representative sample of the Italian population ( N=2,002), surveyed in January 2008, we studied the direct and interactive effects exerted on fear of crime by direct and indirect victimization, on the one hand, and perceived level of disorder of participants' community, on the other hand. Indirect victimization fostered fear of crime among participants reporting high levels of social disorder in their community. However, direct and indirect victimization did not influence fear of crime among participants reporting not living in a disordered community. Implications and limitations of this work and possible further research directions are discussed. © 2011 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

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We analysed some political consequences of household crowding during the 2020 COVID-19 lockdown across a wide quota sample of the Italian adult population, stratified as concerns gender, age, level of education, geographical area of residence, and size of area of residence, interviewed before (May–June 2019) and during (April 2020) the lockdown (N = 1,047, 51.2% women, M age = 50.44, SD = 14.36). Path analysis showed that household crowding during the lockdown was positively associated with support for anti-democratic political systems, through the partial mediation of the perceived relative impact of COVID-19 on one's family and of expectations of future lifestyle restrictions due to the pandemic. These associations did not depend on participants' pre-pandemic socio-economic status and predisposition to strong political leaders. Strengths, limitations, and possible developments of the study are discussed. • COVID-19 lockdown measures forced people to stay indoors 24/7. • Household crowding during lockdown is associated with anti-democratic attitudes. • Lifestyle restrictions and the impact of COVID-19 partially explain this link. • This study shows relevant socio-political consequences of household density. [ABSTRACT FROM AUTHOR]

Archival, correlational, and experimental studies converge showing strong links between societal threat and authoritarianism. However, inconsistent with the social cognitive studies showing that our perception of the reality is systematically biased, the literature on the threat-authoritarianism relations has largely ignored the connection between the actual societal threat and its perception. In this study, we analyzed the relation between objective societal threat and authoritarians' perception of it, hypothesizing that authoritarians would tend to overestimate societal threat and that such overestimation would increase the endorsement of authoritarian attitudes and the preference for authoritarian political systems. Using an experimental approach, we studied the relations between right-wing authoritarianism (RWA), actual societal threat (manipulated as low vs. moderate), and perceived societal threat working with an Italian community sample (N = 209, Mage = 29.70, SD = 9.53, 64.1% women). Actual threat and RWA equally predicted participants' threat perception, while their interaction did not. In turn, threat perception further increased RWA and support to authoritarian political system. We discussed the results in terms of a vicious circle whereby authoritarians overestimate societal threat and such overestimation reinforces authoritarian attitudes.

Genetic testing availability in the health care system is rapidly increasing, along with the diffusion of next-generation sequencing (NGS) into diagnostics. These issues make imperative the knowledge-drive optimization of testing in the clinical setting. Time estimations of wet laboratory procedure in Italian molecular laboratories offering genetic diagnosis were evaluated to provide data suitable to adjust efficiency and optimize health policies and costs. A survey was undertaken by the Italian Society of Human Genetics (SIGU). Forty-two laboratories participated. For most molecular techniques, the most time-consuming steps are those requiring an intensive manual intervention or in which the human bias can affect the global process time-performances. For NGS, for which the study surveyed also the interpretation time, the latter represented the step that requiring longer times. We report the first survey describing the hands-on times requested for different molecular diagnostics procedures, including NGS. The analysis of this survey suggests the need of some improvements to optimize some analytical processes, such as the implementation of laboratory information management systems to minimize manual procedures in pre-analytical steps which may affect accuracy that represents the major challenge to be faced in the future setting of molecular genetics laboratory., Competing Interests: We have the following interests. Cristina Lapucci is employed by Synlab Italy. There are no patents, products in development or marketed products to declare. This does not alter our adherence to all the PLOS ONE policies on sharing data and materials, as detailed online in the guide for authors.

Cornelia de Lange syndrome (CdLS) is a genetic condition characterized by intellectual disability, peculiar facial dysmorphisms, multiorgan malformations, and growth problems. Majority cases of CdLS are caused by mutations in genes of Cohesin pathway. Although feeding problems are a well-known feature, no specific data have been published about the use of nutritional devices. We analyzed use, type, time of introduction, and duration of nutritional devices in 73 CdLS patients. In total, 29/73 (40%) used a device; nasogastric tube (NGT) in 28/73 (38%) and percutaneous endoscopic gastrostomy (PEG) in 7/73 (10%). NGT was placed during the first days/weeks of life. 19/28 (68%) maintained it for less than 3 months, 7/28 (25%) for a period between 3 and 12 months, while 2/28 (7%) for more than 1 year. PEG was placed within the first year in 4/7 (57%) and removed in two patients after 4 years These data have been matched with a wide number of genetic and clinical variables. Presence of upper limb malformations is positively correlated with the need of a device. From the opposite side, the use of a device positively correlates with a more severe prognosis as regard growth, intellectual development and disease severity. Our data show that nutritional devices are frequently used by CdLS patients, also if the majority of them (93.1%) succeed with time in achieving a normal oral nutrition. Finally, the need, the type of device used and the duration of NGT or/plus PEG can be considered a further sign of worse prognosis of the disease itself., (© 2018 Wiley Periodicals, Inc.)

Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder caused by mutations in the cohesion complex and its regulators. The syndrome is characterized by multiple organ system abnormalities, pre- and post-natal growth retardation and typical facial features. Thrombocytopenia is a reduction in platelet count to <150 × 10(9)  L. It can be caused by congenital or acquired decreased production, increased destruction, or sequestration of platelets. In recent years, several papers reported thrombocytopenia and immune thrombocytopenia in patients affected by CdLS. In 2011, Lambert et al. estimated the risk of idiopathic thrombocytopenia purpura in CdLS patients to be 31-633 times greater than in the general population. We describe the incidence of thrombocytopenia in 127 Italian CdLS patients, identifying patients with transient or persistent thrombocytopenia, but a lower incidence of true idiopathic thrombocytopenic purpura (ITP)., (© 2015 Wiley Periodicals, Inc.)

Although Beckwith-Wiedemann syndrome (BWS, OMIM #130650) is the most common genetic overgrowth disorder, data on its epidemiology are scanty and the estimates of its occurrence show wide variability. The aim of this study is to assess its prevalence in Piedmont Region (Italy). We included in the study all patients diagnosed with BWS born in Piedmont from 1997 to 2009 through a search in the Italian Registry for Rare Diseases. This source was further validated with data from the network of Regional Clinical Genetics services and surveys in extra-regional Clinical Genetics centres, laboratories and the Italian BWS patients association. All cases were further ascertained through physical exam, medical history and specific molecular tests. The search identified 46 clear-cut cases of BWS born across the 13-year period, providing a prevalence of 1:10 340 live births (95% confidence interval 1:7,752-13,698 live births). Among the 41 patients who underwent molecular tests, 70.7% were positive, showing hypomethylation of the IC2 imprinting center (29.3%), paternal chromosome 11 uniparental disomy (pUPD11, 24.4%), IC1 hypermethylation (14.6%), CDKN1c mutation (2.4%), whereas 29.3% had negative molecular tests. The study provides an approximate BWS prevalence of 1:10,000 live birth, the highest reported to date., (Copyright © 2013 Wiley Periodicals, Inc.)

Rett syndrome (RTT) is a rare neurodevelopmental disorder, linked to MECP2 gene mutations in the majority of cases, which results in severe disability and is associated with several comorbidities. The clinical condition of RTT patients tends to stabilize over time, and prolonged survival has recently been demonstrated. However, limited information is available on the long-term course of older patients with RTT, especially among those in Southern Europe. The aim of our study is to evaluate the main clinical features and state of health of adult Italian patients with RTT and to present their evolution over time, identifying major clinical issues present at different ages. A total of 130 families of patients with RTT aged ≥14 years were asked to complete a questionnaire, 84 of which were returned (65%). Among the clinical characteristics of RTT, stereotypies and poor hand function and feeding ability remained stable over time, while nonverbal communication tended to improve. With regard to the main pathologies, sleep, behavioral, and autonomic disorders persisted into adulthood, while epilepsy improved and musculoskeletal problems worsened. In our sample, older patients with R294X and R133C mutations and with C-terminal deletions showed lower levels of clinical severity. The development of guidelines for the clinical management of patients with RTT will assist health care providers in dealing with the complex RTT phenotype. More extensive data about the long-term course of the condition could help in the design of programs for secondary prevention of disabilities for younger females affected by the syndrome., (Copyright © 2011 Wiley Periodicals, Inc.)

With a sample of Italians selected from 71 Italian counties (N = 1,868), we performed two multilevel analyses aimed at predicting the perceived risk of crime at local (i.e., in the participants' county of residence) and at societal (i.e., in the context of Italian society) levels. A significant proportion of the variation in local risk perception was at the county level. The following individual variables predicted higher levels of this variable: indirect victimization, the perception of social and physical disorder, being a woman, being poorly educated, and being an older person. Among the ecological predictors, the crime rate and unemployment rate predicted higher levels of local crime risk perception, while the immigrant rate did not. Perceived risk of crime at the societal level did not show significant variation at the county level. Education, being a man, trusting people, and adhesion to post-materialistic values predicted lower levels of societal crime risk perception, while number of sons/daughters and exposure to television news increased it. The limitations and possible development of this study are discussed.

Background: Cystic fibrosis (CF) is a multisystem disorder characterised by mutations of the CFTR gene, which encodes for an important component in the coordination of electrolyte movement across of epithelial cell membranes. Symptoms are pulmonary disease, pancreatic exocrine insufficiency, male infertility and elevated sweat concentrations. The CFTR gene has numerous mutations (>1000) and functionally important polymorphisms (>200). Early identification is important to provide appropriate therapeutic interventions, prognostic and genetic counselling and to ensure access to specialised medical services. However, molecular diagnosis by direct mutation screening has proved difficult in certain ethnic groups due to allelic heterogeneity and variable frequency of causative mutations., Methods: We applied a gene scanning approach using DHPLC system for analysing specifically all CFTR exons and characterise sequence variations in a subgroup of CF Italian patients from the Lazio region (Central Italy) characterised by an extensive allelic heterogeneity., Results: We have identified a total of 36 different mutations representing 88% of the CF chromosomes. Among these are two novel CFTR mutations, including one missense (H199R) and one microdeletion (4167delCTAAGCC)., Conclusion: Using this approach, we were able to increase our standard power rate of mutation detection of about 11% (77% vs. 88%).