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Over the recent decades, organizations have had to face a number of major external shocks and crises. Acquiring a better understanding of how human resources are managed under such critical conditions constitutes the main purpose of this study. We conducted a study triangulating different sources (employees, HR managers, and secondary data) and types of data (quantitative and qualitative) to explore how employees in Portuguese organizations perceived the HR practices' implementation during the years of the financial crisis (2011–2014) and how HR managers explained it. Longitudinal evidence from 53 organizations attests to perceived decreasing trends, particularly in training and development and performance management. HR managers legitimize these trends, embracing conventions and revealing the impact of coercive and normative pressures. Our findings highlight the need for renewed attention to be paid to the contextual pressures on HR managers' decision‐making and actions that could severely endanger their role as strategic partners and their embrace of sustainable HRM. [ABSTRACT FROM AUTHOR]

Research on supervisory feedback has burgeoned over the past 20 years. We ask, what does it have to offer to management practitioners, and is this knowledge conveyed in a constructive way? To answer these questions, we conducted a systematic literature review of the practical implications contained in feedback studies. Based on our retained articles (N = 120) and using the W‐H questions as our guiding framework, we critically discuss: Why recommendations are offered, What recommendations are endorsed, When and Where the recommendations are presented as most applicable, to Whom those are addressed, and How they are framed by researchers. In so doing, we summarise the indications that scientific research has offered to practitioners; moreover, following the same framework and the insights collected via a follow‐up survey of academics (N = 61), we provide recommendations to researchers across the management and psychology disciplines on how to craft their practical implications sections in a way that may help bridge the gap between research and practice. [ABSTRACT FROM AUTHOR]

This longitudinal study examines the role that students' political reputation in class plays in their future political activities offline together with other people. When aged 16, students were asked to nominate the classmates they considered politically knowledgeable and verbal in class, that is, as having a political reputation. This measure of political reputation was used to predict the participants' political activities offline four years later at age 20 and their attempts to take a stand in public in the national election the same year. The study controlled for individual differences in political interest, self‐perceived political impact in class, the students' political activities at age 16, and also gender and immigrant status. About 300 Swedish students were followed up four years later. Political reputation in class positively predicted future political activities offline, membership of political organizations, and attempts to take a stand in public for a party in the forthcoming national election. At the same time, the role played by political reputation depended upon students' other characteristics, especially their levels of anger and popularity, as observed by classmates. Evidently, the group dynamics in class that give some students a political reputation have long‐term consequences for their future political activities. [ABSTRACT FROM AUTHOR]

Imprinting Disorders (ImpDis) are a group of congenital syndromes associated with up to four different types of molecular disturbances affecting the monoallelic and parent‐of‐origin specific expression of genomically imprinted genes. Though each ImpDis is characterized by aberrations at a distinct genetic site and a specific set of postnatal clinical signs, there is a broad overlap between several of them. In particular, the prenatal features of ImpDis are non‐specific. Therefore, the decision on the appropriate molecular testing strategy is difficult. A further molecular characteristic of ImpDis is (epi)genetic mosaicism, which makes prenatal testing for ImpDis challenging. Accordingly, sampling and diagnostic workup has to consider the methodological limitations. Furthermore, the prediction of the clinical outcome of a pregnancy can be difficult. False‐negative results can occur, and therefore fetal imaging should be the diagnostic tool on which decisions on the management of the pregnancy should be based. In summary, the decision for molecular prenatal testing for ImpDis should be based on close exchanges between clinicians, geneticists, and the families before the initiation of the test. These discussions should weigh the chances and challenges of the prenatal test, with focus on the need of the family. Key points: What is already known about this topic? Imprinting Disorders (ImpDis) are caused by molecular disturbances affecting the balanced monoallelic and parent‐of‐origin specific expression of genomically imprinted genes.Prenatal testing for ImpDis is challenging due to molecular heterogeneity and mosaicism, with a risk for false‐negative results. What does this review add? A comprehensive overview of the ImpDis in prenatal setting and the diagnostic challenges.It should be considered to focus prenatal testing for ImpDis on indications with an increased risk. [ABSTRACT FROM AUTHOR]

We conducted a secondary analysis of the 2018 (ninth round) European Social Survey dataset (N = 19,512, nested in 24 countries) to analyse the association between relative deprivation and right‐wing populist voting, moderated by participants' income and their country's GDP. A multilevel moderated model showed that relative deprivation, income and GDP had no association with right‐wing populist votes by themselves. However, income and GDP moderated the relation between relative deprivation and right‐wing populist votes, that was significant for participants with high incomes and for those living in wealthy countries. The strengths, limitations and future developments of the study are discussed. [ABSTRACT FROM AUTHOR]

The prevalence of Beckwith–Wiedemann spectrum (BWSp) is tenfold increased in children conceived through assisted reproductive techniques (ART). More than 90% of ART‐BWSp patients reported so far display imprinting center 2 loss‐of‐methylations (IC2‐LoM), versus 50% of naturally conceived BWSp patients. We describe a cohort of 74 ART‐BWSp patients comparing their features with a cohort of naturally conceived BWSp patients, with the ART‐BWSp patients previously described in literature, and with the general population of children born from ART. We found that the distribution of UPD(11)pat was not significantly different in ART and naturally conceived patients. We observed 68.9% of IC2‐LoM and 16.2% of mosaic UPD(11)pat in our ART cohort, that strongly differ from the figure reported in other cohorts so far. Since UPD(11)pat likely results from post‐fertilization recombination events, our findings allows to hypothesize that more complex molecular mechanisms, besides methylation disturbances, may underlie BWSp increased risk in ART pregnancies. Moreover, comparing the clinical features of ART and non‐ART BWSp patients, we found that ART‐BWSp patients might have a milder phenotype. Finally, our data show a progressive increase in the prevalence of BWSp over time, paralleling that of ART usage in the last decades. [ABSTRACT FROM AUTHOR]

The study examined the individual characteristics and consequences of psychological group processes that may lead some students to gain a reputation for being politically knowledgeable and verbal in class (a political reputation). Two normal samples of Swedish students were used, 13‐year‐olds (N = 835) and 16‐year‐olds (N = 795). Longitudinal data over one year were analyzed and showed that youths' political reputation in class is established very early. Cross‐sectional predictions showed that political interest predicted political reputation in class positively, and social fear predicted political reputation negatively in both cohorts. In addition, having a political reputation predicted increased political interest and political efficacy over one year. Further, mediation analyses showed that youths' political predispositions, their political interest and political efficacy at T1, significantly operated on interest and efficacy at T2 via the political reputation. This suggests that political reputation partly functions as a booster of youths' initial political predispositions over time. Future research is needed into the long‐term consequences of having a political reputation. [ABSTRACT FROM AUTHOR]

We examined whether a supervisor's coaching leadership style predicts the perception of organizational politics in performance appraisal ( OPPA) reported by the collaborators. Additionally, we drew on social cognition and motivational life-span development theories to hypothesize age-related differences in perceived OPPA and its link with the coaching leadership style. Using hierarchical linear modeling ( HLM) on a sample of 576 employees and 112 leaders, we found that coaching leaders are perceived as less manipulative in their performance ratings, especially by older employees. This article includes a discussion of the implications these results have for performance management of an age-diverse workforce. © 2016 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Objectives: We aimed to analyze the enduring effects exerted by COVID‐19 exposure and subjective economic threats on support for anti‐democratic political systems. Method: We performed a two‐wave longitudinal study on a quota panel of the Italian adult population (N = 1,073), surveyed first in April 2020, during the first peak of the pandemic (T1) and the first lockdown, and second in October 2020, at the onset of the second peak of the pandemic and of the second lockdown (T2). Results: A mediation model showed that COVID‐19 exposure and subjective economic threats, measured at T1, fostered a negative evaluation of how the government managed the pandemic, which, in turn, had a positive association with support for anti‐democratic political systems, both measured at T2. Conclusion: The existential threats related to the COVID‐19 pandemic have enduring political consequences, undermining people's support for democracy, even six months after their onset. [ABSTRACT FROM AUTHOR]

Objective: Exogenous shocks trigger rally effects, leading the public opinion toward increased trust in institutions. Rally effects have an important social function because they help society react to shocks rapidly and efficiently as a single unit and cohesively face the threat. However, little is known about the individual functions that these effects fulfil. In this study, we aimed to analyze the individual functions of the rally effect. Method: In a three‐wave longitudinal study on a quota sample of the Italian adult population (N = 1070), we analyzed the individual consequences of the increase in institutional trust triggered by the COVID‐19 pandemic. Results: A path analysis showed that increased trust in political, super partes and international institutions fostered well‐being, reducing anxiety, collective angst, and anger via the mediation of participants' perceived control over their lives. Conclusion: Beyond their well‐known social functions, rally effects fulfil the individual function of favoring people's psychological well‐being. [ABSTRACT FROM AUTHOR]

Coaching literature assumes that people undergo personal change through coaching. We contend that different types of change may occur with coaching and investigate whether this is the case in reflection (a key competence in coaching). Results from our sample of 61 coachees indicate that three types of change (alpha, beta, gamma) are observed across participants. Alpha change refers to a substantive change in reflection (i.e. an increase or decrease), beta to a recalibration of one's assessment of reflection and gamma to a re‐conceptualization of reflection. We further examine implicit person theory (IPT) as a predictor and perceived coaching utility as a correlate of the three types of change. We observe a higher probability that incremental IPT will associate with alpha change versus other types of change, and that beta and gamma changes correlate positively and negatively, respectively, with perceived utility for work. No significant correlations are observed between types of change and perceived utility for personal development. Our study represents an exploratory contribution to a better understanding of the within‐person changes in reflection following coaching intervention, and has implications for both theory and practice, which we discuss along with indications for future directions. [ABSTRACT FROM AUTHOR]

Coaching is a developmental intervention implemented in organisations to improve individual attitudes and behaviours. Few studies, however, have tested these assumptions and explained the mechanisms involved. We propose psychological capital (PsyCap), a set of positive individual resources, as a possible mediator. We investigated whether coaching framed in goal setting and conservation of resources theories is effective in improving PsyCap and, through this, individual attitudes and performance, and whether its effects maintain over time. We conducted an experiment with 56 employees in a marketing company, who were either randomly assigned to a coaching intervention or a wait‐list control group. Measures of interest were collected before the programme started (T1), and after the programme, which lasted 4 months (T2). A follow‐up measure for the experimental group was collected after a further 4 months (T3). ANOVAs showed coaching was associated with increases in PsyCap, job attitudes, and one dimension of job performance. The mediating role of PsyCap was supported for job attitudes. The effects on PsyCap and job attitudes lasted over time, as revealed by within‐subjects repeated measures analyses. This study fills a gap in our knowledge of the explanatory processes of coaching effectiveness by building on solid research design features. [ABSTRACT FROM AUTHOR]

Rett syndrome (RTT, MIM * 312750) is an X‐linked neurodevelopmental disorder caused by pathogenic variants at the Xq28 region involving the gene methyl‐CpG‐binding protein 2 (MECP2, MIM * 300005). The spectrum of MECP2‐related phenotypes is wide and it ranges from asymptomatic female carriers to severe neonatal‐onset encephalopathy in males. Abnormal breathing represents one of the leading features, but today little is known about polysomnographic features in RTT females; no data are available about males. We report the case of a male of Moroccan origins with a MECP2 pathogenic variant and a history of encephalopathy and severe breathing disturbances in the absence of dysmorphic features. For the first time we describe in detail the polysomnographic characteristics of a MECP2‐mutated male and we show the relevance of severe central apneas, which may represent a new clinical clue to suggest the diagnosis. Moreover, we want to highlight the importance to maintain a high index of suspicion for MECP2‐related disorders in the presence of severe hypotonia, apneic crises, and respiratory insufficiency in males to permit an earlier diagnosis and the consequent definition of recurrence risk of the family and to avoid other useless and invasive exams. [ABSTRACT FROM AUTHOR]

Objectives: The urgency of the COVID‐19 pandemic has led governments to impose restrictions on individual freedom and required citizens to comply with these restrictions. In addition, lockdowns related to COVID‐19 have led to a significant economic crisis. We aimed to study how the pandemic and related economic threats have impacted support for anti‐democratic political systems. Method: We analyzed data from a quota panel of the Italian adult population (N = 1,195), surveyed once before and once during the pandemic. Results: A hierarchical regression model showed that exposure to COVID‐19 and perceived economic insecurity were associated with support for anti‐democratic political systems, independent of participants' predispositions toward a strong leader. Conclusion: An authoritarian personality is not a necessary precondition for individual anti‐democracy: when facing severe personal threats, anyone could restore a subjective sense of control over the social world by becoming anti‐democratic, independent of their initial predisposition to support anti‐democratic political systems. [ABSTRACT FROM AUTHOR]

Objectives: We predicted populist orientation and vote for two populist parties, the Five Star Movement (FSM) and the League, in the 2019 European election by focusing on perceived economic threat, perceived cultural threat, dissatisfaction with representative democracy, and on first‐order interactions. Method: We surveyed a quota sample of the Italian adult general population (N = 1,504) and tested a latent moderated structural equations model aimed at predicting participants' populist vote and populist orientation. Results: Perceived cultural threat and dissatisfaction with democracy were positively associated with populist orientation. Dissatisfaction with democracy was positively associated with votes for the FSM, while perceived cultural threat was positively associated with votes for the League. Perceived economic threat was negatively associated with votes for the League. Conclusion: Populist orientation and populist vote share just some predictors, and are associated with main effects only, but not with interactions between perceived cultural, economic, and political variables. [ABSTRACT FROM AUTHOR]

Careers exist in a societal context that offers both constraints and opportunities for career actors. Whereas most studies focus on proximal individual and/or organisational‐level variables, we provide insights into how career goals and behaviours are understood and embedded in the more distal societal context. More specifically, we operationalise societal context using the career‐related human potential composite and aim to understand if and why career goals and behaviours vary between countries. Drawing on a model of career structuration and using multilevel mediation modelling, we draw on a survey of 17,986 employees from 27 countries, covering nine of GLOBE's 10 cultural clusters, and national statistical data to examine the relationship between societal context (macrostructure building the career‐opportunity structure) and actors' career goals (career mesostructure) and career behaviour (actions). We show that societal context in terms of societies' career‐related human potential composite is negatively associated with the importance given to financial achievements as a specific career mesostructure in a society that is positively related to individuals' proactive career behaviour. Our career mesostructure fully mediates the relationship between societal context and individuals' proactive career behaviour. In this way, we expand career theory's scope beyond occupation‐ and organisation‐related factors. [ABSTRACT FROM AUTHOR]

Although coaching programs are becoming increasingly widespread across the world, in some countries this practice has only been introduced in recent years. To better understand the coaching context in one such country, Portugal, and to identify future trends and directions, a survey was carried out among 255 coaches via social media, using the snowball approach. We aimed to uncover the predominant background of coaches and whether this is associated with features of their practice, most notably their theoretical positions and the use of any tools or instruments. We also explored aspects related to the coachees' most recurrent needs for coaching, and the positive and negative effects that coaches observe more frequently. The results of this descriptive study reveal, among other things, that there is room for more theory‐driven methodologies that can be replicated and standardized and, therefore, ultimately contribute to coaching professionalization. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Abstract: Objective: To evaluate poly(GP), a dipeptide repeat protein, and neurofilament light chain (NfL) as biomarkers in presymptomatic C9orf72 repeat expansion carriers and patients with C9orf72‐associated frontotemporal dementia. Additionally, to investigate the relationship of poly(GP) with indicators of neurodegeneration as measured by NfL and grey matter volume. Methods: We measured poly(GP) and NfL levels in cerebrospinal fluid (CSF) from 25 presymptomatic C9orf72 expansion carriers, 64 symptomatic expansion carriers with dementia, and 12 noncarriers. We explored associations with grey matter volumes using region of interest and voxel‐wise analyses. Results: Poly(GP) was present in C9orf72 expansion carriers and absent in noncarriers (specificity 100%, sensitivity 97%). Presymptomatic carriers had lower poly(GP) levels than symptomatic carriers. NfL levels were higher in symptomatic carriers than in presymptomatic carriers and healthy noncarriers. NfL was highest in patients with concomitant motor neuron disease, and correlated with disease severity and survival. Associations between poly(GP) levels and small grey matter regions emerged but did not survive multiple comparison correction, while higher NfL levels were associated with atrophy in frontotemporoparietal cortices and the thalamus. Interpretation: This study of C9orf72 expansion carriers reveals that: (1) poly(GP) levels discriminate presymptomatic and symptomatic expansion carriers from noncarriers, but are not associated with indicators of neurodegeneration; and (2) NfL levels are associated with grey matter atrophy, disease severity, and shorter survival. Together, poly(GP) and NfL show promise as complementary biomarkers for clinical trials for C9orf72‐associated frontotemporal dementia, with poly(GP) as a potential marker for target engagement and NfL as a marker of disease activity and progression. [ABSTRACT FROM AUTHOR]

This study addresses the relationship between job characteristics and sickness absenteeism, examining it under two important boundary conditions, employee age, and occupational group. Drawing from psychological theories that explain age‐related differences in the workplace, as well as the sociology of occupations, we formulate hypotheses concerning two‐ and three‐way interactions between five key job characteristics (job demands, autonomy, skill variety, supervisor, and colleague support), age, and occupational group, namely blue‐collar workers versus clerks. We test our hypotheses on an archival sample of 5,175 employees taken from the French National Survey of Employment Conditions. Hierarchical negative binomial regressions reveal that many of our hypotheses are supported. For example, autonomy and supervisor and colleague support have a differential impact on sickness absenteeism depending on age and the occupational group of employees. We discuss the implications of our findings for both theory and practice. Practitioner points: Sickness absences can be predicted by job characteristics as function of age and occupational groups. Supervisor support is associated with fewer sickness absences in younger workers, especially clerks. Occupational context may mask the age differences because for Job Autonomy and Colleague Support, age‐related differences were detected only within the blue‐collar and clerical groups, respectively. The impact of job demands and skill variety on sickness absences is moderated by age and does not vary across the two occupational groups. [ABSTRACT FROM AUTHOR]

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]

I relied on the subjective group dynamics framework to analyse the derogation of inparty candidates involved in negative campaigns. In an experimental study (dynamic simulation of an electoral campaign, N = 118), I found that participants downgraded the inparty candidate (both in terms of evaluation and vote choice) more when he ran a person-based negative campaign than when he ran an issue-based negative campaign. This effect was significant for participants with high levels of political identification only. Overall, the findings revealed that political candidates, as members of significant social groups, are not exempt from the forms of extremity in evaluations typically observed in other social groups. [ABSTRACT FROM AUTHOR]

We designate a novel term 'isolated lateralized overgrowth' (ILO) for the findings previously described as 'isolated hemihypertrophy' and 'isolated hemihyperplasia.' ILO is defined as lateralized overgrowth in the absence of a recognized pattern of malformations, dysplasia, or morphologic variants. ILO is likely genetically heterogeneous. Further study is required to determine more of the underlying genetic etiologies and potential associations with currently unrecognized patterns of malformation. [ABSTRACT FROM AUTHOR]

Hierarchical linear modeling was used to examine the relationships between social capital (at the individual, the neighborhood, and the regional levels) and adolescents' fear of crime, while controlling for the main individual (sociodemographics, television viewing, and bullying victimization), neighborhood (neighborhood size and aggregated victimization), and regional (crime rate and level of urbanization) variables. Data were analyzed using a three-level model based on 22,639 15.7-year-old ( SD = 0.67) students nested within 1081 neighborhoods and 19 Italian regions. The findings revealed that individual and contextual measures of social capital, modeled at the individual, neighborhood, and regional levels simultaneously, showed negative associations with adolescents' fear of crime. Males and participants with higher family affluence were less likely to feel fear of crime, whereas victimization, both at the individual and neighborhood levels, had a positive association with fear of crime. Strengths, limitations, and potential applications of the study are discussed. [ABSTRACT FROM AUTHOR]

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 × 109 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). [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]

Interstitial triplications of 15q11 -q13, leading to tetrasomy of the involved region, are very rare, with only 11 cases reported to date. Their pathogenicity is independent of the parental origin of the rearranged chromosome. The associated phenotype resembles, but is less severe, than that of patients bearing inv dup(15) marker chromosomes. Here, we describe a boy of 3 years and 9 months of age who exhibited very mild craniofacial dysmorphism (arched eyebrows, hypertelorism, and a wide mouth), developmental delay, generalized hypotonia, ataxic gait, severe intellectual disability, and autism. Array comparative genomic hybridization (CGH) analysis identified a heterozygous duplication of 1.1 Mb at 15q11.2 (between low-copy repeats BP1 and BP2), and a heterozygous triplication of 6.8 Mb at 15q11.2-q13.1 (BP2-BP4). Both acquisitions were de novo and contiguous. Microsatellite polymorphism analysis revealed the maternal origin of the triplication and the involvement of both maternal chromosomes 15. Furthermore, fluorescence in situ hybridization (FISH) analysis using BAC clones revealed that the rearrangement was complex, containing three differently sized tandem repeats of which the middle one was inverted. Our study confirms and extends the model proposed to explain the formation of intrachromosomal triplications through recombination events between non-allelic duplicons. The comparison of the proband's clinical presentation with those of previously described cases attests the existence of endophenotypes due to the parental origin of the 15q11-q13 triplicated segment and suggests a timetable for achievement of developmental milestones, thereby contributing to improved genotype-phenotype correlations. © 2014 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

We analyzed directly and indirectly the relationships between societal threat to safety, perceived control, and the increase in right-wing authoritarianism (RWA) in two studies. In Study 1 (national sample of the Italian population, N = 1,169), we performed a longitudinal analysis structured into three waves (January 2003, September 2004, and January 2005). A moderated regression analysis showed that RWA increased from 2003 to 2005 as a function of perceived societal threat to safety more among low- than among high RWA scorers. In experimental Study 2 (Italian university students, N = 131) a moderated mediation model showed loss of perceived control to mediate the relation between societal threat to safety and the increase in RWA, but among low authoritarians only. Limitations, implications, and possible developments of this research are discussed. [ABSTRACT FROM AUTHOR]

Cornelia de Lange syndrome (CdLS) is a complex genetic disease with skeletal involvement mostly related to upper limb malformations. We report on three males with clinical and molecular diagnoses of CdLS. Besides typical CdLS features, all showed different cervical spine malformations. To the best of our knowledge, this is an unusual malformation in the CdLS phenotypic spectrum. © 2014 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

ABSTRACT Using the 2006 Eurobarometer data (representative sample of the European population, N = 16 306, 27 countries), we performed a multilevel analysis aimed at predicting fear of crime. A significant proportion of the variation in fear of crime was at country level. Of the individual predictors included, being a woman, being poorly educated, being unemployed, and being an urban dweller showed positive relations with fear of crime. Fear was highest among people who considered themselves to be socially marginal, among people with negative expectations regarding themselves and their country's future, and among people who considered their nation's welfare system to be unsatisfactory. Among the ecological predictors we took into consideration, nations' degree of economic inequality and low expenditure on education and on social protection showed a positive association with fear of crime, whereas the crime, immigration, and employment rates did not. Implications and limitations of this research are discussed. Copyright © 2013 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

We report on the clinical and molecular characterization of eight patients, one male and seven females, with clinical diagnosis of Cornelia de Lange syndrome (CdLS), who were found to carry distinct mutations of the SMC1A gene. Five of the eight mutations are novel, with two involving amino acid residues previously described as altered in a different way. The other three have been reported each in a single case. Comparison of pairs of individuals with the same mutation indicates only partial overlap of their clinical phenotypes. The following novel missense mutations, all affecting highly conserved amino acid residues, were found: p.R398G in the N-terminal coiled-coil domain, p.V651M in the C-terminal coiled-coil/hinge junction, p.R693G in the C-terminal coiled-coil, and p.N1166T and p.L1189F in the C-terminal ABC cassette. The latter is localized in the H-loop, and represents the first mutation involving a functional motif of SMC1A protein. The effect of the mutations on SMC1A protein function has been predicted using four bioinformatic tools. All mutations except p.V651M were scored as pathogenic by three or four of the tools. p.V651M was found in the only male individual of our cohort, who presented with the most severe phenotype. This raises the issue of gender effect when addressing mutation-phenotype correlation for genes such as SMC1A, which incompletely escapes X-inactivation. Our clinical and molecular findings expand the total number of characterized SMC1A-mutated patients (from 44 to 52) and the restricted repertoire of SMC1A mutations (from 29 to 34), contributing to the molecular and clinical signature of SMC1A-based CdLS. © 2013 Wiley Periodicals, Inc. [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]

ABSTRACT 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. © 2013 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

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. © 2011 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

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. [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]

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 T2 using as independent variables: (a) the main sociodemographic variables and fear of crime, as assessed at T1; (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. © 2010 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Neutrophil gelatinase-associated lipocalin (NGAL) was evaluated prospectively through normal pregnancy and pregnancies complicated by preeclampsia syndrome. Sixty women enrolled in the study were evaluated for serum NGAL levels at 9-11 weeks gestation, at 24-26 weeks gestation and at delivery. Thirty women were affected by preeclampsia and 30 women with uncomplicated pregnancies formed the control group. NGAL serum concentrations in the preeclampsia group were higher compared to the control group, with significant differences in each trimester. In the first trimester, the median values were: 29.9 ng/mL [interquartile range (IQR) 24.1-50.1] versus 13.6 ng/mL (IQR 9.1-19.9; p < 0.001); in the second trimester: 59.6 ng/mL (IQR 25.3-82.6) versus 16.3 ng/mL (IQR 11.3-23.3; p < 0.001); and in the third trimester: 57.2 ng/mL (IQR 18.7-70.9) versus 15.8 ng/mL (IQR 9.1-22.5; p < 0.001). NGAL serum values were positively correlated with systolic and diastolic blood pressure and with proteinuria. [ABSTRACT FROM AUTHOR]

Objective Cystic fibrosis (CF; OMIM# 219700) is caused by mutation in the CF transmembrane regulator ( CFTR) gene. We investigate whether the (paternal) M348K mutation is a benign polymorphism or a disease-causing mutation in a patient clinically affected with CF, with the second (maternal) CFTR allele identified as N1303K. Methods The patient and his father were studied for the presence of mutations in the CFTR gene using the DHPLC system to analyze all CFTR exons. Amplicons showing an abnormal elution profile were sequenced. Results The CFTR gene from the healthy father has two mutations, M348K and G1244E. The affected son inherited only the G1244E paternal mutation from his father, and hence the two paternal mutations are trans and do not occur in the same CFTR gene. The patient's genotype is G1244E(paternal)/N1303K(maternal). This information was used to study an ongoing pregnancy of the couple, where the fetus inherited the same genotype as the affected proband and therefore is affected. Conclusion M348K in the CFTR gene is not a mutation causing CF, but a rare polymorphism. These data are important for genetic counseling and prenatal diagnosis and illustrate the importance of full sequence data when studying rare mutations. Copyright © 2004 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

The cover image, by Jennifer M. Kalish et al., is based on the Original Article Nomenclature and definition in asymmetric regional body overgrowth, DOI: 10.1002/ajmg.a.38266. [ABSTRACT FROM AUTHOR]

Psychological Capital (PsyCap) is a positive individual characteristic, and its malleability and openness to development have made it the focus of considerable attention in recent years. A training procedure for improving individuals' PsyCap has been advanced and tested by Luthans and colleagues in a North American sample. The purpose of the current study was to generalize the effectiveness of the PsyCap Intervention (Luthans, Avey, Avolio, Norman, & Combs, 2006) when conducted by different trainers (i.e., replication), and to explore its longer term effects (i.e., extension). We trained a pooled sample ( N = 40) of students and professionals in Bulgaria and conducted a one-month follow-up assessment of PsyCap in order to examine the durability of the training effects. The statistical analyses revealed significant improvements in the overall PsyCap after training as well as in each of its four dimensions, namely, self-efficacy, hope, resilience, and optimism; remarkably, these improvements remained stable over one month, attesting to the durability of the training effects in the samples of both students and professionals. These results contribute to the accrual of scientific knowledge on a theory-driven and evidence-based HRD intervention. [ABSTRACT FROM AUTHOR]

Purpose: Duplications encompassing the MECP2 gene on the Xq28 region have been described in male patients with moderate to severe mental retardation, absent speech, neonatal hypotonia, progressive spasticity and/or ataxia, recurrent severe respiratory infections, gastrointestinal problems, mild facial dysmorphisms (midface hypoplasia, depressed nasal bridge, large ears) and epilepsy. Epilepsy can occur in >50% of cases, but the types of seizures and the electroclinical findings in affected male individuals have been poorly investigated up to the present. Herein we describe eight patients with MECP2 duplication syndrome and a specific clinical and electroencephalographic pattern. Methods: Array CGH of genomic DNA from the probands was performed, and an Xq28 duplication ranging from 209 kb to 6.36 Mb was found in each patient. Electroencephalography studies and clinical and seizure features of all the patients were analyzed. Key findings: We found that epilepsy tended to occur between late childhood and adolescence. Episodes of loss of tone of the head and/or the trunk were the most represented seizure types. Generalized tonic-clonic seizures were rarely observed. The typical interictal EEG pattern showed abnormal background activity, with generalized slow spike and wave asynchronous discharge with frontotemporal predominance. Sleep electroencephalography studies also demonstrated abnormal background activity; spindles and K complex were often abnormal in morphology and amplitude. Response to therapy was generally poor and drug resistance was a significant feature. Significance: Although these cases and a review of the literature indicate that epilepsy associated with MECP2 duplication syndrome cannot be considered a useful marker for early diagnosis, epilepsy is present in >90% of adolescent patients and shows a peculiar electroclinical pattern. Consequently, it should be considered a significant sign of the syndrome, and an EEG follow-up of these patients should be encouraged from early childhood. Moreover, the definition of a more specific epileptic phenotype could be useful in order to suspect MECP2 duplication syndrome in older undiagnosed patients. [ABSTRACT FROM AUTHOR]

Loss-of-function CHD2 (chromodomain helicase DNA-binding protein 2) mutations are associated with a spectrum of neurodevelopmental disorders often including early-onset generalized seizures, photosensitivity, and epileptic encephalopathies. Patients show psychomotor delay/intellectual disability (ID), autistic features, and behavior disorders, such as aggression and impulsivity. Most reported cases are sporadic with description of germline mosaicism only in two families. We detect the first case of parental gonosomal CHD2 mosaicism disclosed by two brothers showing mild ID, born to healthy parents. The eldest brother has a history of drug-controlled generalized tonic-clonic seizures and displays sleep disorder and aggressive behavior suggestive of Smith-Magenis syndrome (SMS). Analysis of brothers' DNAs by next-generation sequencing (NGS) custom gene panel for pediatric epilepsy and/or ID disclosed in both the same pathogenic CHD2 variant. Additional NGS experiment on genomic DNA from parents' peripheral blood and from buccal swab raised the suspicion of low-grade gonosomal mosaicism in the unaffected mother subsequently confirmed by digital polymerase chain reaction (dPCR). This report underlines as worthwhile CHD2 screening in individuals presenting ID/developmental delay, with/without epilepsy, and behavior and sleep disorders suggestive of SMS. Detecting a CHD2 variant should prime testing probands' parents by NGS coupled to dPCR on different tissues to exclude/confirm gonosomal mosaicism and define the recurrence risk., (© 2024 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics published by Wiley Periodicals LLC.)