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.

Quality of implementation in an evidence-based family prevention program: the Family Competence Program

Family prevention programs need to be evidence-based in order to guarantee the success of their implementation. The Family Competence Program (FCP), a Spanish cultural adaptation of the Strengthening Families Program (SFP), has developed different measures and processes to gauge the quality of the implementation. This article is dedicated specifically to two of these measures: the evaluation of the facilitators and the assessment of the family engagement techniques. For evaluating the facilitators, a Delphi technique with experts and professionals is undertaken. For assessing the family techniques, both self-evaluation of trainers and evaluation by families are used. Finding underpin that, in the case of facilitators, is important that, after to skills and experience, they need to understand the theory of change of the program. In the case of family engagement techniques, more detailed, comprehensive talks, discussions and group activities lead to better family engagement outcomes.