886 research outputs found
Mentalization and dissociation in the context of trauma: Implications for child psychopathology
Dissociation is a common reaction subsequent to childhood sexual abuse (CSA) and has been identified as a risk factor for child psychopathology. There is also evidence that mentalization contributes to resilience in the context of abuse. However, at this stage little is known regarding the relationship between mentalization and dissociation, and their respective contributions to psychopathology. The aim of this study was to examine pathways from CSA to depressive symptoms, externalizing behaviour difficulties and sexualized behaviour, through mentalization and dissociation. These pathways were examined in a sample of 168 mother-child dyads including 74 dyads where children (aged 7â12) had histories of sexual abuse. Maternal mentalization was assessed using the Parent Development Interview-Revised and childrenâs mentalization was assessed using the Child Reflective Functioning Scale. Children completed the Child Depression Inventory and parents completed the Child Dissociative Checklist, the Child Behavior Checklist and the Child Sexual Behavior Inventory. Direct and indirect paths from CSA to child psychopathology via childrenâs mentalization and dissociation were examined using Mplus. Two distinct paths from abuse to psychopathology were identified. Child mentalization partially mediated the relationship between CSA and depressive symptoms. The effects of CSA on externalizing symptoms and sexualized behaviour difficulties were sequentially mediated through mentalisation and dissociation
Post-traumatic stress disorder in sexually abused children: secure attachment as a protective factor
The aim of the present study was to examine the hypothesis that attachment and CSA interacted such that school aged CSA survivors with insecure attachment to parents would be at an elevated risk of developing PTSD and trauma symptoms. Participants (n = 111, ages 7-12) comprised two groups, child CSA survivors (n = 43) and a matched comparison group of children (n = 68) recruited from the community. Children completed the Child Attachment Interview as well as the Trauma Symptom Checklist for Children (TSCC). There was a significant interaction between sexual abuse history and attachment security, such that sexually abused children with insecure attachment representations had significantly more PTSD and trauma symptoms than sexually abused children with secure attachment to parents. The findings show that using a dual lens of attachment and CSA can facilitate identification children most at risk have important implications for understanding risk and resilience processes
Gene mutations and genomic rearrangements in the mouse as a result of transposon mobilization from chromosomal concatemers
Previous studies of the Sleeping Beauty (SB) transposon system, as an insertional mutagen in the germline of mice, have used reverse genetic approaches. These studies have led to its proposed use for regional saturation mutagenesis by taking a forward-genetic approach. Thus, we used the SB system to mutate a region of mouse Chromosome 11 in a forward-genetic screen for recessive lethal and viable phenotypes. This work represents the first reported use of an insertional mutagen in a phenotype-driven approach. The phenotype-driven approach was successful in both recovering visible and behavioral mutants, including dominant limb and recessive behavioral phenotypes, and allowing for the rapid identification of candidate gene disruptions. In addition, a high frequency of recessive lethal mutations arose as a result of genomic rearrangements near the site of transposition, resulting from transposon mobilization. The results suggest that the SB system could be used in a forward-genetic approach to recover interesting phenotypes, but that local chromosomal rearrangements should be anticipated in conjunction with single-copy, local transposon insertions in chromosomes. Additionally, these mice may serve as a model for chromosome rearrangements caused by transposable elements during the evolution of vertebrate genomes. © 2006 Geurts et al
The cooking task: making a meal of executive functions
Current standardized neuropsychological tests may fail to accurately capture real-world executive deficits. We developed a computer-based Cooking Task (CT) assessment of executive functions and trialed the measure with a normative group before use with a head-injured population. Forty-six participants completed the computerized CT and subtests from standardized neuropsychological tasks, including the Tower and Sorting Tests of executive function from the Delis-Kaplan Executive Function System (D-KEFS) and the Cambridge prospective memory test (CAMPROMPT), in order to examine whether standardized executive function tasks, predicted performance on measurement indices from the CT. Findings showed that verbal comprehension, rule detection and prospective memory contributed to measures of prospective planning accuracy and strategy implementation of the CT. Results also showed that functions necessary for cooking efficacy differ as an effect of task demands (difficulty levels). Performance on rule detection, strategy implementation and flexible thinking executive function measures contributed to accuracy on the CT. These findings raise questions about the functions captured by present standardized tasks particularly at varying levels of difficulty and during dual-task performance. Our preliminary findings also indicate that CT measures can effectively distinguish between executive function and Full Scale IQ abilities. Results of the present study indicate that the CT shows promise as an ecologically valid measure of executive function for future use with a head-injured population and indexes selective executive functionâs captured by standardized tests
Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies
SummaryBackgroundRetinoblastoma is the childhood retinal cancer that defined tumour-suppressor genes. Previous work shows that mutation of both alleles of the RB1 retinoblastoma suppressor gene initiates disease. We aimed to characterise non-familial retinoblastoma tumours with no detectable RB1 mutations.MethodsOf 1068 unilateral non-familial retinoblastoma tumours, we compared those with no evidence of RB1 mutations (RB1+/+) with tumours carrying a mutation in both alleles (RB1â/â). We analysed genomic copy number, RB1 gene expression and protein function, retinal gene expression, histological features, and clinical data.FindingsNo RB1 mutations (RB1+/+) were reported in 29 (2·7%) of 1068 unilateral retinoblastoma tumours. 15 of the 29 RB1+/+ tumours had high-level MYCN oncogene amplification (28â121 copies; RB1+/+MYCNA), whereas none of 93 RB1â/â primary tumours tested showed MYCN amplification (p<0·0001). RB1+/+MYCNA tumours expressed functional RB1 protein, had fewer overall genomic copy-number changes in genes characteristic of retinoblastoma than did RB1â/â tumours, and showed distinct aggressive histological features. MYCN amplification was the sole copy-number change in one RB1+/+MYCNA retinoblastoma. One additional MYCNA tumour was discovered after the initial frequencies were determined, and this is included in further analyses. Median age at diagnosis of the 17 children with RB1+/+MYCNA tumours was 4·5 months (IQR 3·5â10), compared with 24 months (15â37) for 79 children with non-familial unilateral RB1â/â retinoblastoma.InterpretationAmplification of the MYCN oncogene might initiate retinoblastoma in the presence of non-mutated RB1 genes. These unilateral RB1+/+MYCNA retinoblastomas are characterised by distinct histological features, only a few of the genomic copy-number changes that are characteristic of retinoblastoma, and very early age of diagnosis.FundingNational Cancer InstituteâNational Institutes of Health, Canadian Institutes of Health Research, German Research Foundation, Canadian Retinoblastoma Society, Hyland Foundation, Toronto Netralaya and Doctors Lions Clubs, Ontario Ministry of Health and Long Term Care, UK-Essen, and Foundations Avanti-STR and KiKa
Interleukin-6 gene (IL-6): a possible role in brain morphology in the healthy adult brain
Background: Cytokines such as interleukin 6 (IL-6) have been implicated in dual functions in neuropsychiatric disorders. Little is known about the genetic predisposition to neurodegenerative and neuroproliferative properties of cytokine genes. In this study the potential dual role of several IL-6 polymorphisms in brain morphology is investigated. Methodology: In a large sample of healthy individuals (Nâ=â303), associations between genetic variants of IL-6 (rs1800795; rs1800796, rs2069833, rs2069840) and brain volume (gray matter volume) were analyzed using voxel-based morphometry (VBM). Selection of single nucleotide polymorphisms (SNPs) followed a tagging SNP approach (e.g., Stampa algorigthm), yielding a capture 97.08% of the variation in the IL-6 gene using four tagging SNPs. Principal findings/results: In a whole-brain analysis, the polymorphism rs1800795 (â174âC/G) showed a strong main effect of genotype (43 CC vs. 150 CG vs. 100 GG; xâ=â24, yâ=ââ10, zâ=ââ15; F(2,286)â=â8.54, puncorrectedâ=â0.0002; pAlphaSim-correctedâ=â0.002; cluster size kâ=â577) within the right hippocampus head. Homozygous carriers of the G-allele had significantly larger hippocampus gray matter volumes compared to heterozygous subjects. None of the other investigated SNPs showed a significant association with grey matter volume in whole-brain analyses. Conclusions/significance: These findings suggest a possible neuroprotective role of the G-allele of the SNP rs1800795 on hippocampal volumes. Studies on the role of this SNP in psychiatric populations and especially in those with an affected hippocampus (e.g., by maltreatment, stress) are warranted.Bernhard T Baune, Carsten Konrad, Dominik Grotegerd, Thomas Suslow, Eva Birosova, Patricia Ohrmann, Jochen Bauer, Volker Arolt, Walter Heindel, Katharina Domschke, Sonja Schöning, Astrid V Rauch, Christina Uhlmann, Harald Kugel and Udo Dannlowsk
Insomnia is a frequent finding in adults with Asperger syndrome
BACKGROUND: Asperger syndrome (AS) is a neurodevelopmental disorder belonging to autism spectrum disorders with prevalence rate of 0,35% in school-age children. It has been most extensively studied in childhood while there is scarcity of reports concerning adulthood of AS subjects despite the lifelong nature of this syndrome. In children with Asperger syndrome the initiation and continuity of sleep is disturbed because of the neuropsychiatric deficits inherent of AS. It is probable that sleep difficulties are present in adulthood as well. Our hypothesis was that adults with AS suffer from difficulty in initiating and maintaining sleep and nonrestorative sleep (insomnia). METHODS: 20 AS without medication were compared with 10 healthy controls devoid of neuropsychiatric anamnesis. Clinical examination, blood test battery and head MRI excluded confounding somatic illnesses. Structured psychiatric interview for axis-I and axis-II disorders were given to both groups as well as Beck Depression Inventory and Wechsler adult intelligence scale, revised version. Sleep quality was assessed with sleep questionnaire, sleep diary during 6 consecutive days and description of possible sleep problems by the participants own words was requested. RESULTS: compared with controls and with normative values of good sleep, AS adults had frequent insomnia. In sleep questionnaire 90% (18/20), in sleep diary 75% (15/20) and in free description 85% (17/20) displayed insomnia. There was a substantial psychiatric comorbidity with only 4 AS subject devoid of other axis-I or axis-II disorders besides AS. Also these persons displayed insomnia. It can be noted that the distribution of psychiatric diagnoses in AS subjects was virtually similar to that found among patient with chronic insomnia. CONCLUSIONS: the neuropsychiatric deficits inherent of AS predispose both to insomnia and to anxiety and mood disorders. Therefore a careful assessment of sleep quality should be an integral part of the treatment plan in these individuals. Conversely, when assessing adults with chronic insomnia the possibility of autism spectrum disorders as one of the potential causes of this condition should be kept in mind
The enigmatic nature of altruism in organ transplantation: a cross-cultural study of transplant physicians' views on altruism
Ask Suicide-Screening Questions to Everyone in Medical Settings: The asQ'em Quality Improvement Project
Suicide in hospital settings is a frequently reported sentinel event to the Joint Commission (JC). Since 1995, over 1,000 inpatient deaths by suicide have been reported to the JC; 25% occurred in non-behavioral health settings. Lack of proper âassessmentâ was the leading root cause for 80% of hospital suicides. This paper describes the âAsk Suicide-Screening Questions to Everyone in Medical Settings (asQâem)â Quality Improvement Project. We aimed to pilot a suicide screening tool and determine feasibility of screening in terms of prevalence, impact on unit workflow, impact on mental health resources, and patient/nurse acceptance
Genetic predisposition for sudden cardiac death in myocardial ischaemia: the Arrhythmia Genetics in the NEtherlandS study
Sudden cardiac death from ventricular fibrillation during myocardial infarction is a leading cause of total and cardiovascular mortality. This multifactorial, complex condition clusters in families, suggesting a substantial genetic cause. We carried out a genomewide association study (GWAS) for sudden cardiac death, in the AGNES (Arrhythmia Genetics in the Netherlands) population, consisting of patients with (cases) and without (controls) ventricular fibrillation during a first ST-elevation myocardial infarction. The most significant association was found at chromosome 21q21 (rs2824292; odds ratioâ=â1.78, 95% CI 1.47â2.13, Pâ=â3.3âĂâ10â10), 98 kb proximal of the CXADR gene, encoding the Coxsackie and adenovirus receptor. This locus has not previously been implicated in arrhythmia susceptibility. Further research on the mechanism of this locus will ultimately provide novel insight into arrhythmia mechanisms in this condition
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