Cerebrotendinous xanthomatosis with bradyphrenia and psychiatric disorders: a case with 18F-FDG PET imaging and a literature review

Background and Objectives: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid-storage disease caused by mutations in the CYP27A1. The purpose of this study is to determine the clinical characteristics, neuroimaging and mutation detect in a family with CTX systematically. Methods: Collecting history materials and detecting the routine clinical biochemical tests and imaging examination, and for the first time taking the whole body positron emission tomography (PET)-CT examination for probed in the world to research abnormal metabolism activities in CTX. To observe the effect of treatment with chenodeoxycholic acid (CDCA) and stains before and after the intervention, using serum lipid level detection and neuropsychological evaluation. Genetic testing was carried out to screen the nine exons and exon-intron boundaries about 200-300bq of CYP27A1. Results: A 37-year-old woman with typical clinical characteristics of CTX. Magnetic resonance imaging (MRI) of brain showed bilateral lesions in the dentate nucleus of the cerebellum, then, PET images revealed multiple abnormal hypermetabolism areas at distal tendon, and multifocal areas of hypometabolism in bilateral sides of cerebellar hemispheres, the frontal lobe and temporal lobe. Histopathology reveals accumulation of xanthoma cells and dispersed lipid crystal clefts in xanthomas. In genetic analysis, it shown an insertion of cytosine (77-78insC) located in the first exon of CYP27A1 in the proband. Conclusions: We found that a Chinese patient presented a typical clinical feature of CTX along with clear correlation on both structural and functional imaging had a novel mutation in the CYP27A1 gene.

Child-to-parent violence: the role of exposure to violence and its relationship to social-cognitive processing

Research suggests that child-to-parent violence (CPV) is related to a previous history of violence within the family setting. The current study was aimed to explore the exposure to violence in different settings (school, community, home, and TV) and its relationship to some variables of the social-cognitive processing (hostile social perception, impulsivity, ability to anticipate the consequences of social behaviors and to select the appropriate means to achieve the goals of social behaviors) in a group of juveniles who assaulted their parents. It is also examined how they differ from other young offenders and non-offender adolescents. The sample included 90 adolescents from Jaén (Spain). Thirty of them were juveniles who had been reported by their parents for being violent towards them and 30 were juveniles who had committed other types of offences. The third group was made up of 30 adolescents without any criminal charge. Adolescents answered measures of exposure to violence, perception of criticism/rejection from parents, hostile social perception, and social problem- solving skills. Results revealed that juveniles who abused their parents reported higher levels of exposure to violence at home when comparing to the other groups. In addition, exposure to violence at home was significantly correlated to the hostile social perception of adolescents in CPV cases. Implications for prevention and treatment are discussed

With or without you: does partner satisfaction and partner-directed violence influence the presence of a partner on women's Facebook cover profile photographs?

Social network sites (SNSs) provide new opportunities for online self-presentation of millions of users. The cover profile photograph (CPP) along with written information regarding relationship status is a central component of online self-presentation, although their associations with actual romantic relationships are not clear. We investigated relationships between the presence of a current romantic partner on the CPP and the displayed relationship status and partner satisfaction, partner-directed violence and women's intrasexual competition with peers. A total of 28 % of the 158 women with a Facebook profile and being involved in a romantic relationship had their romantic partners on their CPP. As predicted, women with their partners on the CPP were more satisfied with their romantic relationship than others. Furthermore, women who did not have their partner on the CPP tended to conceal or lie in their displayed mating status suggesting that this may be a strategy how to attract another potential mate. The partner-directed violence and intrasexual competition hypotheses were not supported. Overall, the CPP and an honestly displayed relationship status is an expression of relationship satisfaction amongst women.

Predicting risk of violence through a self-appraisal questionnaire

The Self-Appraisal Questionnaire (SAQ) is a self-report that predicts the risk of violence and recidivism and provides relevant information about treatment needs for incarcerated populations. The objective of the present study was to evaluate the concurrent and predictive validity of this self-report in Spanish offenders. The SAQ was administered to 276 offenders recruited from several prisons in Madrid (Spain). SAQ total scores presented high levels of internal consistency (alpha = .92). Correlations of the instrument with violence risk instruments were statistically significant and showed a moderate magnitude, indicating a reasonable degree of concurrent validity. The ROC analysis carried out on the SAQ total score revealed an AUC of .80, showing acceptable accuracy discriminating between violent and nonviolent recidivist groups. It is concluded that the SAQ total score is a reliable and valid measure to estimate violence and recidivism risk in Spanish offenders.

Interactions between drugs and drug-nutrient in enteral nutrition: a review based on evidences

Introduction: Enteral nutrition (EN) provides calories, macronutrients and micronutrients in adequate quantity and quality to meet the patient's needs. Some drugs when crushed and diluted may have their properties altered, including the reduction of bioavailability causing the reduction of the serum concentration of the drug; tube obstruction; drug-drug interaction or drug-nutrient interaction. Methods: The study was conducted through review of submitted articles in the databases of the Virtual Health Library (VHL): MEDLINE (National Library of Medicine, USA), Lilacs (Latin American and Caribbean Literature on Health Sciences) PUBMED - NCBI (National Center for Biotechnology Information) and COCHRANE. Results: For this survey, 42 articles were identified during database searching. After applying the inclusion and exclusion criteria, 08 articles were selected, obtained from the MEDLINE and Lilacs. Discussion: Some interactions were found such as the aluminium hydroxide and lactulose with the enteral nutrition, which may result in a precipitation and reduction of drug bioavailability. Mineral oil will alter the absorption of fat-soluble vitamins and reduces the tube light. Others results were found as phenytoin, warfarin, captopril and furosemide with enteral nutrition may reduce the maximum serum concentration. Conclusion: Drug interactions are more common in day-to-day activities than health professionals may suppose. Knowledge on the matter may also assist in reducing cases of obstruction of tubes, through which enteral nutrition and medications are administered. Thus, the multidisciplinary team, acting together, may have more beneficial effects to the patient.