Prevalence of Exposure to Complex Trauma and Community Violence and Their Associations With Internalizing and Externalizing Symptoms

Studies about trauma often tend to focus on abuse and neglect. However important, these studies may neglect the importance of the broader community context that is often associated with trauma, and complex trauma (CT) in particular. This study aimed to investigate the effects of CT (defined in terms of experiencing abuse and/or neglect occurring in the context of relationships with caregivers), and of broader environmental adversity (i.e., exposure to community violence), in a sample of adolescents ( N = 218) from a severely disadvantaged district of Lima, Peru. The study had two aims: (a) to assess the prevalence of CT and its associations with internalizing and externalizing symptoms in these adolescents and (b) to investigate the associations between community violence and both internalizing and externalizing symptoms over and above the effects of CT. In total, 39.4% of the adolescents reported at least one type of moderate to severe trauma. There was a clear association between CT and both internalizing and externalizing symptoms. Ordinal logistic regressions showed that children who were exposed to one or more traumatic experiences were more likely to score within a higher range of internalizing and externalizing symptoms than children with no history of trauma. Finally, exposure to community violence was an important predictor of symptomatology beyond the effects of CT

Validation of the quality of relationships inventory in a peruvian sample of adolescents and associations to peer attachment

Research concerning adolescent peer relations and peer attachment is scarce, and more so in Spanish-speaking populations. The aims of this study were twofold: (a) to adapt the Quality of Relationships Inventory (QRI) to Spanish and (b) to assess its psychometric properties in the context of peer relations in a sample of N = 269 Peruvian adolescents. Internal consistency was adequate. The factor structure of the instrument was assessed by means of confirmatory factor analysis (CFA) and multidimensional scaling (MDS). Convergent validity was explored by analyzing the associations between the QRI subscales and the peer subscales of the Inventory of Parent and Peer Attachment (correlations ranged from r = .37 to r = .61) and discriminant validity by exploring the associations between the QRI subscales and both internalizing and externalizing symptoms (correlations ranged from r = .27 to r = .35). Results showed that the QRI on its Spanish version is a reliable tool for the assessment of the quality of peer relationships within a Peruvian context when taking some considerations into account regarding the conflict scale

Adult-Onset ANCA-Associated Vasculitis in SAVI: Extension of the Phenotypic Spectrum, Case Report and Review of the Literature.

STING-associated vasculopathy with onset in infancy (SAVI) is an autosomal dominant disorder due to gain-of-function mutations in STING1, also known as TMEM173, encoding for STING. It was reported as a vasculopathy of infancy. However, since its description a wider spectrum of associated manifestations and disease-onset has been observed. We report a kindred with a heterozygous STING mutation (p.V155M) in which the 19-year-old proband suffered from isolated adult-onset ANCA-associated vasculitis. His father suffered from childhood-onset pulmonary fibrosis and renal failure attributed to ANCA-associated vasculitis, and died at the age of 30 years due to respiratory failure. In addition, an overview of the phenotypic spectrum of SAVI is provided highlighting (a) a high phenotypic variability with in some cases isolated manifestations, (b) the potential of adult-onset disease, and (c) a novel manifestation with ANCA-associated vasculitis

A standardized framework for the validation and verification of clinical molecular genetic tests

The validation and verification of laboratory methods and procedures before their use in clinical testing is essential for providing a safe and useful service to clinicians and patients. This paper outlines the principles of validation and verification in the context of clinical human molecular genetic testing. We describe implementation processes, types of tests and their key validation components, and suggest some relevant statistical approaches that can be used by individual laboratories to ensure that tests are conducted to defined standards

Testing a Theory-Based Model of Suicidality in a Community Sample

The aim of the present study is to test a theory-based model of suicide in a low-risk nonclinical sample. A community sample of convenience of 200 adults, 102 men and 98 women, responded to the Depressive Experiences Questionnaire, the Center for the Epidemiologic Studies of Depression Scale, the Psychache Scale, the Interpersonal Needs Questionnaire, and the Suicide Behaviors Questionnaire Revised. The hypothesized structural equation model, including trait dimensions of self-criticism and neediness, and state dimensions of depression, psychache, perceived burdensomeness, and thwarted belongingness, fit the observed data well and significantly explained 49% of the variance of suicidality

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

Brugada syndrome (BrS) is a cardiac arrhythmia disorder associated with sudden death in young adults. With the exception of SCN5A, encoding the cardiac sodium channel NaV1.5, susceptibility genes remain largely unknown. Here we performed a genome-wide association meta-analysis comprising 2,820 unrelated cases with BrS and 10,001 controls, and identified 21 association signals at 12 loci (10 new). Single nucleotide polymorphism (SNP)-heritability estimates indicate a strong polygenic influence. Polygenic risk score analyses based on the 21 susceptibility variants demonstrate varying cumulative contribution of common risk alleles among different patient subgroups, as well as genetic associations with cardiac electrical traits and disorders in the general population. The predominance of cardiac transcription factor loci indicates that transcriptional regulation is a key feature of BrS pathogenesis. Furthermore, functional studies conducted on MAPRE2, encoding the microtubule plus-end binding protein EB2, point to microtubule-related trafficking effects on NaV1.5 expression as a new underlying molecular mechanism. Taken together, these findings broaden our understanding of the genetic architecture of BrS and provide new insights into its molecular underpinnings

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

Brugada syndrome (BrS) is a cardiac arrhythmia disorder associated with sudden death in young adults. With the exception of SCN5A, encoding the cardiac sodium channel NaV1.5, susceptibility genes remain largely unknown. Here we performed a genome-wide association meta-analysis comprising 2,820 unrelated cases with BrS and 10,001 controls, and identified 21 association signals at 12 loci (10 new). Single nucleotide polymorphism (SNP)-heritability estimates indicate a strong polygenic influence. Polygenic risk score analyses based on the 21 susceptibility variants demonstrate varying cumulative contribution of common risk alleles among different patient subgroups, as well as genetic associations with cardiac electrical traits and disorders in the general population. The predominance of cardiac transcription factor loci indicates that transcriptional regulation is a key feature of BrS pathogenesis. Furthermore, functional studies conducted on MAPRE2, encoding the microtubule plus-end binding protein EB2, point to microtubule-related trafficking effects on NaV1.5 expression as a new underlying molecular mechanism. Taken together, these findings broaden our understanding of the genetic architecture of BrS and provide new insights into its molecular underpinnings