Effectiveness of a multimodal training programme to improve general practitioners' burnout, job satisfaction and psychological well-being.

BACKGROUND: The 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. METHOD: Eighteen 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. RESULTS: In 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. CONCLUSIONS: Findings 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.

FCGR3A-V158F polymorphism is a disease-specific pharmacogenetic marker for the treatment of psoriasis with Fc-containing TNFα inhibitors.

Psoriasis is a multifactorial skin disease affecting ~2% of world's population, causing a dramatic decrease in patients' quality of life and a significant increase in health-care expenses. Biological agents such as the anti-TNFα ones had an enormous impact in patients' therapy; however, a significant proportion of them do not respond well, an outcome attributed mainly to genetic factors. Recently, in a large European cohort of rheumatoid arthritis patients we have shown association with variation in the receptors that correspond to the Fc portion of the biological agents. As both diseases share common immunological fingerprints, we examined the hypothesis that they share common pharmacogenetic markers. Analysis of FCGR2A-H131R and FCGR3A-V158F polymorphisms in 100 psoriasis patients showed association only with respect to FCGR3A-V158F and response to etanercept (P=0.018). Interestingly, no association was found between FCGR2A-H131R and response to anti-TNFα therapy (P=0.882). This study suggests a role for FCGR3A-V158F polymorphism unique for psoriasis.

Brain functional changes in first-degree relatives of patients with bipolar disorder: evidence for default mode network dysfunction.

BACKGROUND: Relatively few studies have investigated whether relatives of patients with bipolar disorder show brain functional changes, and these have focused on activation changes. Failure of de-activation during cognitive task performance is also seen in the disorder and may have trait-like characteristics since it has been found in euthymia. METHOD: A total of 20 euthymic patients with bipolar disorder, 20 of their unaffected siblings and 40 healthy controls underwent functional magnetic resonance imaging during performance of the n-back working memory task. An analysis of variance (ANOVA) was fitted to individual whole-brain maps from each set of patient-relative-matched pair of controls. Clusters of significant difference among the groups were used as regions of interest to compare mean activations/de-activations between them. RESULTS: A single cluster of significant difference among the three groups was found in the whole-brain ANOVA. This was located in the medial prefrontal cortex, a region of task-related de-activation in the healthy controls. Both the patients and their siblings showed significantly reduced de-activation compared with the healthy controls in this region, but the failure was less marked in the relatives. CONCLUSIONS: Failure to de-activate the medial prefrontal cortex in both euthymic bipolar patients and their unaffected siblings adds to evidence for default mode network dysfunction in the disorder, and suggests that it may act as a trait marker.

Failure of deactivation in the default mode network: a trait marker for schizophrenia?

BACKGROUND: Functional imaging studies in relatives of schizophrenic patients have had inconsistent findings, particularly with respect to altered dorsolateral prefrontal cortex activation. Some recent studies have also suggested that failure of deactivation may be seen. METHOD: A total of 28 patients with schizophrenia, 28 of their siblings and 56 healthy controls underwent functional magnetic resonance imaging during performance of the n-back working memory task. An analysis of variance was fitted to individual whole-brain maps from each set of patient-relative-matched pair of controls. Clusters of significant difference among the groups were then used as regions of interest to compare mean activations and deactivations among the groups. RESULTS: In all, five clusters of significant differences were found. The schizophrenic patients, but not the relatives, showed reduced activation compared with the controls in the lateral frontal cortex bilaterally, the left basal ganglia and the cerebellum. In contrast, both the patients and the relatives showed significant failure of deactivation compared with the healthy controls in the medial frontal cortex, with the relatives also showing less failure than the patients. Failure of deactivation was not associated with schizotypy scores or presence of psychotic-like experiences in the relatives. CONCLUSIONS: Both schizophrenic patients and their relatives show altered task-related deactivation in the medial frontal cortex. This in turn suggests that default mode network dysfunction may function as a trait marker for schizophrenia.

A pharmacogenetic study of ABCB1 polymorphisms and cyclosporine treatment response in patients with psoriasis in the Greek population.

Psoriasis affects 2-3% of the population, causing significant morbidity and financial burden. Immunosuppressive drugs such as cyclosporine are first line systemic therapies for moderate-to-severe forms. However, patients exhibit heterogeneity in their response to therapy, possibly due to genetic factors. The aim of the present study was to assess the ABCB1 T-129C, G1199A, C1236T, G2677T and C3435T single-nucleotide polymorphisms (SNPs) as candidate predictive markers of response to cyclosporine treatment in 84 psoriasis patients. 62% of the patients were defined as responders and 38% as nonresponders. All SNPs complied with Hardy-Weinberg equilibrium. SNP and haplotype analyses were performed to access responsiveness to treatment. Association analysis revealed statistically significant association of SNP 3435 T with negative response (P=0.0075), a result that was further validated in haplotype analysis. This study is the first in the field of the pharmacogenetics of cyclosporine in psoriasis whose results merit further exploitation in larger independent cohorts.

Supernumerary marker chromosome 5 diagnosed by M-FISH in a child with congenital heart defect and unusual face.

We describe a female patient with a small supernumerary marker chromosome (sSMC) present in mosaic and characterized in detail by fluorescence in situ hybridization (FISH) using all 24 human whole chromosome painting probes, multicolor banding (MCB) and subcentromere specific multicolor FISH (subcenM-FISH). The sSMC was demonstrated to be derived from chromosome 5 and the karyotype of our patient was as follows: 47,XX,+mar.ish r(5)(::p13.2 approximately p13.3-->q11.2::) [60%]/46,XX [40%]. Partial trisomy for the proximal 5p and q chromosomal regions is a rare event. A critical region exists at 5p13 for the phenotype associated with duplication 5p. As far as we know, eight similar cases have been published up to now. We describe a new case which, to our knowledge, is the first characterized in such detail. The role of uniparental disomy (UPD) in cases of SMC is also discussed.

Identification of the novel HLA-DRB1*11:192 allele by sequence-based typing in Greece.

The new allele DRB1*11:192 exon 2 differs from the DRB1*11:01:01:01 by three substitutions.

Complete exon 2 sequence of the HLA-DPA1*03:01 allele by sequence-based typing.

Completion of the first 20 nucleotides of exon 2 of DPA1*03:01 allele.

Examining the continuum of psychosis: Frequency and characteristics of psychotic-like symptoms in relatives and non-relatives of patients with schizophrenia.

BACKGROUND: A key finding underlying the continuum of psychosis concept is the presence of psychotic-like experiences (PLEs) in healthy subjects. However, it remains uncertain to what extent these experiences are related to the genetic risk for schizophrenia and how far they actually resemble attenuated forms of psychotic symptoms. METHODS: Forty-nine adults with no history of mental illness in first-degree relatives and 59 siblings of patients with schizophrenia were rated on the psychosis section of the Computerized Diagnostic Interview Schedule IV (C DIS-IV) and the Rust Inventory of Schizotypal Cognitions (RISC). Those who rated positive on the CDIS-IV were re-interviewed using the lifetime version of the Present State Examination 9th edition (PSE-9) and the Structured interview for Schizotypy (SIS). RESULTS: Seventeen (34.69%) of the non-relatives and 22 (37.29%) of the relatives responded positively to one or more of the psychosis questions on the DIS. This difference was not significant. RISC scores were also similar between the groups. At follow-up interview with the PSE-9, 13/40 PLEs (32.50%) in the non-relatives were classified as possible or probable psychotic symptoms compared to 11/46 (23.91%) in the relatives. Using liberal symptom thresholds, 5 of those who attended the follow-up interview (2 non-relatives and 3 relatives) met SIS criteria for schizotypal personality disorder. CONCLUSIONS: Rates of PLEs, however considered, do not differ substantially between relatives and non-relatives of patients with schizophrenia. Only a minority of PLEs picked up by screening interviews resemble attenuated forms of psychotic symptoms.

Tetrasomy 18p de novo: parental origin and different mechanisms of formation.

We have used eight PCR-based DNA polymorphisms to determine the parental origin and mechanisms of formation in 9 patients with de novo nonmosaic tetrasomy 18p. The 9 patients, 4 girls and 5 boys, had clinical features characteristic of i(18p) syndrome. The supernumerary marker chromosome was identified by fluorescence in situ hybridization (FISH) analysis using centromeric probes and a flow-sorted 18p-specific library. The isochromosome was of maternal origin in all 9 cases. The formation of tetrasomy 18p cannot be explained by a single model. In 6 cases, meiosis II nondisjunction, followed by subsequent postzygotic misdivsion, and in 1 case postzygotic nondisjunction and postzygotic misdivision were the most likely mechanisms of formation. Alternative mechanisms are suggested in the remaining 2 cases.

Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: case report and review of the literature on partial trisomy 17qter.

Partial trisomy 17q22-qter is a rare but well-recognized clinical entity. We present a case of partial trisomy for the long arm of chromosome 17, which was detected in a female infant with severe psychomotor and somatic retardation, Stargardt disease, short limbs, and numerous minor anomalies. Differential chromosomal staining demonstrated an excess of genetic material on the long arm of the late replicating X chromosome. FISH and DNA polymorphism analysis showed that the extra material belonged to the distal part of the long arm of chromosome 17 and that there was a partial monosomy of the distal part of the long arm of the derivative X chromosome. The breakpoint regions of this translocation were identified by molecular analysis using polymorphic microsatellite markers on human chromosomes 17 and X. The origin of the abnormal X chromosome was found to be paternal, whereas the origin of the duplicated part of chromosome 17 was maternal. The unbalanced translocation between the paternal X and the maternal chromosome 17 is, therefore, suggested to be due to a postzygotic error.

Sister-chromatid exchange in highly purified human CD4+ and CD8+ lymphocytes.

Sister-chromatid exchange (SCE) frequencies were determined in human peripheral blood CD4+ and CD8+ T lymphocyte subpopulations which were rapidly and highly purified from pooled T lymphocytes by immunological methods. The purified lymphocytes were stimulated with phytohemagglutinin (PHA) for 4 days. CD4+ lymphocytes showed significantly higher SCE frequencies than autologous CD8+ lymphocytes when measured simultaneously after identical bromodeoxyuridine (BrdU) incubation times. Differences in SCE frequencies between CD4+ and CD8+ lymphocytes were also detected when mitomycin C (MMC) was added to the cultures. Higher SCE frequencies in CD4+ lymphocytes were associated with lower proliferating rate indices (PRI) as compared to autologous CD8+ lymphocytes. Abnormalities in CD4+ T lymphocyte function and number in peripheral blood have been observed in several diseases characterized by immunological disorders. Thus, our data may suggest a link between some immunological disturbances and abnormal SCE frequencies in T lymphocyte subsets.

Hyperbrachycephaly, short face, midface hypoplasia, fusion of cervical vertebrae, radiolucent bone defects, and severe destruction of periodontium--a new syndrome: craniofaciocervical osteoglyphic dysplasia.

A patient with an unusual combination of findings, which do not fit in any of the known syndromes, is presented. The patient, a 24.5-year-old male of normal growth and intelligence, manifests craniofacial dysmorphism, radiolucencies in the skull and in the cervical vertebrae, progressive alveolar bone loss and fusion of cervical vertebrae. The young man does not exhibit any other systemic, hematological, biochemical, chromosomal or immunological abnormality, except for IgA deficiency.

[Surgery of inguinal and femoral hernia in the elderly]. / La chirurgia dell'ernia inguinale e crurale nell'anziano.

Old people are continuously increasing in frequency but age is not a significant factor to value the operative risk in hernia surgery. From June 1985 to December 1996, 189 patients, aged > 80-year, were submitted to hernia surgery. No complications were noted when elective surgery was performed. Emergent procedure was undertaken in 7% of the patients major perioperative complications and one death were registered in this group of patients. Mean hospital stay has decreased in the period of the study: was 2.2 days in the last two years. Local anesthesia permitted a day surgery procedure in 60% of cases.

A report of pure 7p duplication syndrome and review of the literature.

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.

Injuries among medical laboratory housekeeping staff: incidence and worker perceptions.

Housekeepers' injury experiences in medical laboratories have not been reported previously. Review of injury incident reports for housekeepers assigned to medical research laboratories in a major university revealed an incidence rate of 46 injuries per 100 housekeepers per year from 1985 to 1988. Thirty-seven percent of the injuries were cuts and punctures, with 70% of these attributable to glass, needles, or cutting instruments. In a survey, 65% of housekeepers indicated that they do not always report their injuries, but the injury pattern they described paralleled those recorded in incident reports. Housekeepers identified behavioral and environmental factors that can contribute to laboratory injuries, including: lack of knowledge; failure to use protective equipment; carelessness; and, "sharps" (ie, sharp needles or glass) in the trash.

Hypothyroidism and sex chromosomes.

The observation of Campbell and Price in 1979 that their Unit had diagnosed four subjects with both Klinefelter's syndrome and congenital hypothyroidism raised the suspicion of an association between the two conditions. This, and the published reports of an XX male, five XXY males, and one mosaic XY/XXY with congenital or acquired forms of hypothyroidism, together with the higher incidence in women and the absence of sex difference among inherited congenital cases, suggested a possible sex chromosome effect in the aetiology of sporadic hypothyroidism. Various hypotheses can be tested either by examining the frequency of hypothyroidism in sex chromatin positive males or by establishing a higher frequency of sex chromatin positive males among hypothyroid cases than in normal males. We examined 57 boys with hypothyroidism for the presence of sex chromatin and found all to be negative. From this relatively small sample we can only exclude the possibility of a very large (100 fold) difference in frequency between the two populations and therefore more data are needed.

Insulin dependent diabetes mellitus (IDDM) and autoimmune thyroiditis in a boy with a ring chromosome 18: additional evidence of autoimmunity or IDDM gene(s) on chromosome 18.

A 4 year 3 month old boy with insulin dependent diabetes mellitus (IDDM), autoimmune thyroiditis, slight mental retardation, facial dysmorphism, and a de novo ring chromosome 18 (deletion 18q22.3-18qter) is described. This unique association of defects could represent a chance association. Alternatively, the clinical features could be the result of the chromosomal aberration. If so, one could speculate that a gene or genes on chromosome 18 might act as a suppressor or activator of the autoimmune process by itself or in concert with other IDDM loci.