ABSTRACT
Potocki-Schaffer syndrome includes multiple exostoses, parietal foramina, and variable developmental delay/intellectual disability. It is associated with a heterozygous deletion of the 11p12p11.2 region. In some cases, the deletion extends to the WAGR locus (11p13p12). We describe here a 9-month-old girl harboring the largest germline heterozygous deletion characterized so far. Oligohydramnios and parietal foramina were noticed during pregnancy. No patient has been diagnosed before with concomitance of these two syndromes during the prenatal period. Cytogenetic diagnosis was anticipated on basis of clinical and radiological signs. Postnatal conventional karyotype confirmed an interstitial 11p deletion: 46,XX,del(11)(p11.2p15.1). Array-comparative genomic hybridization characterized a 29.6 Mb deletion. Our case illustrates the interest of high-resolution genomic approaches to correlate adequately clinical phenotypes with specific genes in suspected contiguous gene deletion syndromes.
Subject(s)
Chromosome Disorders , WAGR Syndrome , Chromosome Deletion , Chromosome Disorders/diagnosis , Chromosome Disorders/genetics , Comparative Genomic Hybridization , Encephalocele , Germ Cells , Humans , WAGR Syndrome/geneticsABSTRACT
Multiple isodicentric Y chromosomes [idic(Y)] is a rare cytogenetic abnormality, most exclusively described in constitutional karyotypes. Only recently has this entity been reported in hematologic neoplasms such as myeloid disorders, albeit these cases remain very scarce. The possible involvement of increasing copies of potential proto-oncogenes located on the multiple idic(Y) led to consider one of them, CRLF2, as a target for kinase inhibitors. We report here, to our knowledge, the first case of multiple idic(Y) in a patient with myelofibrosis secondary to essential thrombocythemia. The patient received ruxolitinib therapy with initial good clinical response.
Subject(s)
Chromosomes, Human, Y/genetics , Primary Myelofibrosis/complications , Sex Chromosome Aberrations , Thrombocythemia, Essential/complications , Aged , Alleles , Humans , In Situ Hybridization, Fluorescence , Karyotype , Karyotyping , Male , Mosaicism , Nitriles , Platelet Count , Primary Myelofibrosis/genetics , Prognosis , Pyrazoles/therapeutic use , Pyrimidines , Receptors, Cytokine/genetics , Thrombocythemia, Essential/geneticsABSTRACT
BNAR syndrome (MIM608980) is a very rare condition: nine cases belonging to three unrelated families were reported since its first description in 2002. The distinctive clinical feature is the bifidity of the tip of the nose and its association with anorectal and/or renal anomalies. Its molecular basis consisting of biallelic FREM1 missense or nonsense mutations was elucidated after studying the original Egyptian family and was confirmed in two families originating from Afghanistan and Pakistan. We describe a fourth family originating from Turkey with signs challenging the diagnostic criteria suggested by the description of the three reported families.
Subject(s)
Abnormalities, Multiple/genetics , Hypertelorism/genetics , Nose Diseases/genetics , Nose/abnormalities , Receptors, Interleukin/genetics , Abnormalities, Multiple/physiopathology , Coloboma/genetics , Coloboma/physiopathology , Egypt/epidemiology , Humans , Hypertelorism/physiopathology , Male , Musculoskeletal Abnormalities/genetics , Musculoskeletal Abnormalities/physiopathology , Nose/physiopathology , Nose Diseases/physiopathology , Pakistan/epidemiology , Phenotype , Respiratory System Abnormalities , Turkey/epidemiologyABSTRACT
Despite evidence supporting the importance of cyber aggression among early adolescents (Hinduja & Patchin, 2015), we know less about its correlates among college students. The present study examined the relationships of Dark Triad personality traits to cyber aggression in a college student sample (N = 297). Machiavellian, narcissistic (both grandiose and vulnerable forms), and psychopathic traits positively related to cyber aggression perpetration. A hierarchical multiple regression including gender, age, and Dark Triad traits found that only the erratic lifestyle component of psychopathic traits explained unique variance in cyber aggression perpetration. Gender did not moderate the relationships between Dark Triad traits and cyber aggression. These findings add to the literature on cyber aggression among college students, suggesting that psychopathic traits are a useful predictor.
Subject(s)
Antisocial Personality Disorder , Bullying , Machiavellianism , Narcissism , Personality , Students , Universities , Adolescent , Adult , Aggression , Bullying/classification , Cell Phone , Female , Humans , Internet , Male , Personality Inventory , Psychometrics , Young AdultABSTRACT
Gender stereotypes may negatively affect perceptions of women professionals' credibility, including forensic experts. This study investigated the impact of behavior-based and appearance-based factors on women expert witness's credibility. Jury-eligible adults were shown one of 16 conditions depicting a woman expert which varied based on combinations of three primary independent variables: (1) attire, (2) cosmetic use, and (3) posture. Expert attractiveness and participants' sexist attitudes served as covariates. Results revealed that women experts were seen as marginally more credible when wearing a skirt suit with a closed posture stance than when wearing a pant suit with a closed posture. Secondary analyses indicated expert attractiveness and participant sexist attitudes accounted for the most variability in credibility scores. Credibility of women expert witnesses may be impacted by irrelevant peripheral cues. Findings can inform discussions aimed at mitigating extraneous factors that inadvertently undermine the reception of women expert witness testimony.
Subject(s)
Communication , Expert Testimony , Adult , Humans , Female , Forensic MedicineABSTRACT
Recent studies have indicated variable reductions in criminal thinking for justice-involved persons with mental illness exposed to cognitive-behavioral treatments. To date, however, no studies have identified risk factors for limited response or modeled observed disparities in responsivity to interventions aimed at reducing criminal thinking. Using an archival data set of 162 probationers with a dual diagnosis who were exposed to changing lives and changing outcomes, a latent profile analysis modeled unobserved heterogeneity in treatment response per observed changes in criminal thinking. Most participants endorsed significant changes in self-reported reactive criminal thinking with minimal changes in proactive criminal thinking. Neither self-reported pretreatment severity of psychopathology nor self-reported compliance with psychotropic medication predicted response to treatment. Although diagnosis also did not predict responsiveness, more favorable views of treatment predicted greater decreases in criminal thinking. Moreover, those expressing fewer levels of criminal thinking after treatment were also found to express a decrease in attitudes supportive of violence. Limitations and treatment recommendations are discussed, including the need for correctional treatments to improve responsiveness to individual treatment needs. (PsycInfo Database Record (c) 2022 APA, all rights reserved).
ABSTRACT
BACKGROUND: The translocation of SRY onto one of the two X chromosomes results in a 46,XX testicular disorder of sex development; this is supposedly because of non-allelic homologous recombination between the protein kinase X gene (PRKX) and the inverted protein kinase Y pseudogene (PRKY). Although 46,XX SRY-positive men are infertile, the literature data indicate that some of these individuals are of short stature (relative to the general population). We sought to determine whether short stature was linked to additional, more complex chromosomal rearrangements. METHODS: Twelve laboratories gathered detailed clinical, anthropomorphic, cytogenetic and genetic data (including chromosome microarray data) on patients with 46,XX SRY-positive male syndrome. RESULTS: SRY was present (suggesting a der(X)t(X;Y)) in 34 of the 38 cases (89.5%). When considering only the 20 patients with chromosome microarray data, we identified several chromosomal rearrangements and breakpoints, especially on the X chromosome. In the five cases for whom the X chromosome breakpoint was located in the pseudoautosomal region, there was partial duplication of the derivate X chromosome. In contrast, in the 15 cases for whom the breakpoint was located downstream of the pseudoautosomal region, part of the derivate X chromosome had been deleted (included the arylsulfatase E [ARSE] gene in 11 patients). For patients with versus without ARSE deletion, the mean height was, respectively, 167.7 ± 4.5 and 173.1 ± 4.0 cm; this difference was not statistically significant (p = 0.1005). CONCLUSION: Although 46,XX SRY-positive male syndromes were mainly because of imbalanced crossover between the X and Y chromosome during meiosis, the breakpoints differed markedly from one patient to another (especially on the X chromosome); this suggests the presence of a replication-based mechanism for recombination between non-homologous sequences. In some patients, the translocation of SRY to the X chromosome was associated with ARSE gene deletion, which might have led to short stature. With a view to explaining this disorder of sex development, whole exome sequencing could be suggested for SRY-negative patients.
Subject(s)
46, XX Testicular Disorders of Sex Development , Arylsulfatases , Testicular Diseases , 46, XX Testicular Disorders of Sex Development/genetics , Arylsulfatases/genetics , Humans , Male , Protein Kinases , Translocation, GeneticABSTRACT
Psychopathy is a robust predictor of overt physical aggression that may also be relevant to relational aggression (RA). This study was conducted to investigate the utility of psychopathic personality traits in the prediction of RA in a sample of 291 college students. Hierarchical multiple regression analyses indicated that both primary and secondary psychopathic traits explained additional variance in general/peer and romantic RA beyond physical aggressiveness. Consistent with previous research, no gender differences were found on either form of RA, challenging the popular stereotype of RA as a female behavior. Moreover, psychopathic traits were not differentially predictive of RA by gender or level of physical aggressiveness. Implications of these findings for research and clinical practice are discussed.
Subject(s)
Aggression/psychology , Antisocial Personality Disorder/psychology , Crime Victims/psychology , Personality , Female , Humans , Interpersonal Relations , Male , Personality Inventory , Psychometrics , Regression Analysis , Self Report , Students/psychology , Surveys and Questionnaires , Young AdultABSTRACT
The present study investigated the potential contribution of sensation seeking, impulsiveness, and boredom proneness to driving anger in the prediction of aggressive and risky driving. Two hundred and twenty-four college student participants completed measures of trait driving anger, aggressive and risky driving, driving anger expression, sensation seeking, impulsiveness, and boredom proneness. Findings provided additional support for the utility of the Driving Anger Scale (DAS; Deffenbacher, J.L., Oetting, E.R., Lynch, R.S., Development of a driving anger scale, Psychological Reports, 74, 1994, 83-91.) in predicting unsafe driving. In addition, hierarchical multiple regression analyses demonstrated that sensation seeking, impulsiveness, and boredom proneness provided incremental improvements beyond the DAS in the prediction of crash-related conditions, aggressive driving, risky driving, and driving anger expression. Results support the use of multiple predictors in understanding unsafe driving behavior.
Subject(s)
Anger , Automobile Driving/psychology , Personality , Psychological Tests , Risk-Taking , Adult , Boredom , Female , Humans , Impulsive Behavior , Male , Mississippi , Multivariate Analysis , Regression Analysis , Reproducibility of ResultsABSTRACT
Relaxation and cognitive-relaxation interventions were compared to a no treatment control in the treatment of high anger drivers. The cognitive portion of the cognitive-relaxation condition adapted the style of Beck's cognitive therapy, particularly use of Socratic questions and behavioral experiments and tryouts, to driving anger reduction. Both interventions lowered indices of driving anger and hostile and aggressive forms of expressing driving anger and increased adaptive/constructive ways of expressing driving anger. The cognitive-relaxation intervention also lowered the frequency of risky behavior. Both interventions lowered trait anger as well. Limitations and implications for treatment and research were discussed.
Subject(s)
Anger , Automobile Driving/psychology , Cognitive Behavioral Therapy/methods , Personality Disorders/therapy , Adaptation, Psychological , Adult , Female , Humans , MaleABSTRACT
PROBLEM: This study examined the validity of the Propensity for Angry Driving Scale (PADS). Measuring road rage: Development of the Propensity for Angry Driving Scale in predicting aggressive driving. METHOD: The PADS and the Driving Anger Scale. Development of a driving anger scale. Psychological reports, 74, 83-91.) were administered to 232 college student volunteers with measures of aggressive and risky driving. RESULTS: Convergent and discriminant validity of the PADS were supported through relationships among measures of similar constructs. The PADS significantly (p<.05) predicted moving tickets, minor accidents, aggressive driving, risky driving, and maladaptive driving anger expression, above and beyond gender, miles driven per week, and trait anger. DISCUSSION: Findings suggest that the PADS is a useful predictor of aggressive driving and has some advantages over the DAS. IMPACT ON INDUSTRY: The PADS is an effective predictor of aggressive driving that complements established measures like the DAS and provides researchers with another valuable tool for the assessment of aggressive driving.
Subject(s)
Accidents, Traffic/psychology , Automobile Driving/psychology , Personality Inventory , Psychometrics/instrumentation , Rage , Safety , Adult , Aggression , Data Collection , Female , Humans , Male , Mississippi , Surveys and QuestionnairesABSTRACT
Crime-promoting cognitions and attitudes, globally labeled as criminogenic thinking, are shown to perpetuate maladaptive and antisocial behavior in criminals and nonoffenders. In the nonoffender population, these thinking patterns may not lead to illegal behavior, but can result in irresponsible or maladaptive behavioral consequences. Theories suggest that early childhood parent-child interactions may be partly responsible for the development of criminogenic thinking. While the relationship between parenting and antisocial behavior is well documented, the connection between parenting and the development of criminogenic thinking styles has not yet been explored. The current study examined the nature of the relationship between exposure to parenting behaviors and subsequent criminogenic thoughts in a nonoffender, college population. The sample included 119 undergraduates. Results indicate that parenting may affect general criminogenic thinking as well as specific types of criminogenic thinking styles. Relevance and importance of the findings with regard to clinical work and parenting are also discussed.
Subject(s)
Antisocial Personality Disorder/psychology , Crime/psychology , Juvenile Delinquency/psychology , Parenting/psychology , Students/psychology , Thinking , Adolescent , Antisocial Personality Disorder/diagnosis , Criminal Psychology , Female , Humans , Male , Southeastern United States , Surveys and Questionnaires , Young AdultABSTRACT
The present study evaluated a theoretical model of the relationships among six aspects of driver personality (i.e., driving anger and the Big Five personality factors), aggressive driving, and two outcomes of aggressive driving: motor vehicle crashes and moving violations. Data from 308 drivers recruited from two vehicle licensing offices were analyzed using structural equation modeling. As expected, aggressive driving predicted crashes and moving violations. Based on the zero-order correlations, emotional stability, agreeableness, and conscientiousness were related to aggressive driving in the expected directions; however, the picture changed when the joint effects of all variables were examined via structural equation modeling. A model in which driver personality predicted aggressive driving, which in turn predicted crashes and moving violations was supported. Drivers who were high on driving anger and low on agreeableness reported driving more aggressively. Implications for traffic safety professionals and researchers are discussed.
Subject(s)
Aggression/psychology , Automobile Driving/psychology , Character , Accidents, Traffic/prevention & control , Accidents, Traffic/psychology , Anger , Female , Humans , Individuality , Male , Models, Psychological , Personality Inventory/statistics & numerical data , Psychometrics , Risk Factors , Risk-TakingABSTRACT
Most research on aggressive driving has focused on identifying aspects of driver personality which will exacerbate it (e.g., sensation seeking, impulsiveness, driving anger, etc.). The present study was designed to examine two theoretically relevant but previously unexplored personality factors predicted to reduce the risk of aggressive driving: trait forgiveness and consideration of future consequences. The utility of these variables in predicting aggressive driving and driving anger expression was evaluated among 316 college student volunteers. Hierarchical multiple regressions permitted an analysis of the incremental validity of these constructs beyond respondent gender, age, miles driven per week, and driving anger. Both forgiveness and consideration of future consequences contributed to the prediction of aggressive driving and driving anger expression, independent of driving anger. Research on aggressive driving may be enhanced by greater attention to adaptive, potentially risk-reducing traits. Moreover, forgiveness and consideration of future consequences may have implications for accident prevention.
Subject(s)
Aggression , Automobile Driving/psychology , Personality , Risk-Taking , Anger , Female , Humans , Male , Young AdultABSTRACT
This study examined factors affecting young adults' attitudes about nonfatal suicidal behavior. It evaluated how respondent sex, respondent gender identity, the precipitant of the suicidal act (i.e., a relationship loss, an achievement failure, or a physical illness), and gender of the suicidal person influence reactions to a suicidal decision. In this study of nonfatal suicidal behavior, like in studies of suicide, attitudes were least negative when the suicidal act was in response to a physical illness. Men were more likely to agree with and accept the suicidal decision than women. Androgynous persons, on the other hand, tended to view the decision to kill oneself as foolish, independent of precipitant. They also reported less agreement, acceptance, and sympathy for such decision. The implications of these findings for the prevention of suicidal behaviors are considered. Because gender seems to play a role in the acceptability of suicidal behavior, prevention programs ought to explicitly examine gender issues in attitudes toward suicidal behavior.