We report on a case of a 9-month-old female infant with a direct duplication of the 7p13-p22.1 chromosome region diagnosed by combining conventional cytogenetic, FISH, and multicolor banding (MCB) studies. Traditional G-banding detected a partial 7p duplication, which was further demonstrated to be entirely of chromosome 7 origin by using a whole chromosome paint for chromosome 7, and derived from 7p13-p22.1 by MCB. The infant presented with characteristic dysmorphic features, psychomotor retardation, and generalized hypotonia. The phenotypic manifestations of partial 7p trisomy with or without other chromosome involvement are briefly reviewed. Our observations in combination with other cases confirm that 7p trisomy due to dir dup(7p) can be regarded as a defined chromosome syndrome.
BackgroundThe changes in the models of care for mental disorders towards a community focus and deinstitutionalisation might have risen General practitioners’ (GPs) workload, increasing their mental health concerns and the need for solutions. Pragmatic research into improving GPs’ work-related health and psychological well-being is limited by focusing mainly on stressors and through not providing systematic attention to the development of positive mental health via interventions that develop psychological resources and capacities. The aim of this study was twofold: a) to determine the effectiveness of an intensive multimodal training programme for GPs designed to improve their management of mental-health patients; and b) to ascertain if the program could be also useful to improve the GPs management of their own burnout, job satisfaction and psychological well-being.MethodEighteen GPs constituted a control group that underwent the routine clinical Mental health support programme for primary care. An experimental group (N = 20) additionally received a Multimodal training programme (MTP) with an Integrated Brief Systemic Therapy (IBST) approach. Through questionnaires and a clinical interview, level of burnout, professional satisfaction, psychopathological state and various indicators of the quality of administrative and healthcare management were analysed at baseline and 10 months after the programme.ResultsIn relation to government of mental-health patients indicators, on the one hand MTP group showed statistically significant improvements in certain administrative health parameters, but on the other it did not improve opinions and attitudes towards mental illness. Regarding GPs management of their own burnout, job satisfaction and psychological well-being assessments, the MTP presented better scores on global psychopathological state and better evolution of satisfaction at work; psychopharmacology use dropped in both groups; in contrast, the MTP did not improve burnout levels.ConclusionsFindings of this preliminary study are promising for the MTP (with an IBST approach) practice in primary care. More research evidence is required from larger samples and randomized controlled trials to support both the hypothetical adoption of MTP (with an IBST approach) as a part of a continuing professional-training programme for GPs’ management of mental-health patients and its positive effects on work-related health factors.
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