Muir-Torre syndrome: a case of unusual coexisting genetic mutations.

Patients with Muir-Torre syndrome (MTS) commonly have germline mismatch repair mutations in MLH1, MSH2 or MSH6, with a strong predominance in MSH2. A subset of approximately one-third of patients will instead have an autosomal recessive base excision repair mutation in MUTYH called MUTYH polyposis. To the best of our knowledge, this is the first report of coexisting germline MSH2 and MUTYH mutations in a patient with MTS.

Maltreatment in childhood substantially increases the risk of adult depression and anxiety in prospective cohort studies: systematic review, meta-analysis, and proportional attributable fractions.

BACKGROUND: Literature supports a strong relationship between childhood maltreatment and mental illness but most studies reviewed are cross-sectional and/or use recall to assess maltreatment and are thus prone to temporality and recall bias. Research on the potential prospective impact of maltreatment reduction on the incidence of psychiatric disorders is scarce. METHOD: Electronic databases and grey literature from 1990 to 2014 were searched for English-language cohort studies with criteria for depression and/or anxiety and non-recall measurement of childhood maltreatment. Systematic review with meta-analysis synthesized the results. Study quality, heterogeneity, and publication bias were examined. Initial screening of titles and abstracts resulted in 199 papers being reviewed. Eight high-quality articles met eligibility criteria. Population attributable fractions (PAFs) estimated potential preventive impact. RESULTS: The pooled odds ratio (OR) between any type of maltreatment and depression was 2.03 [95% confidence interval (CI) 1.37-3.01] and 2.70 (95% CI 2.10-3.47) for anxiety. For specific types of maltreatment and depression or anxiety disorders, the ORs were: physical abuse (OR 2.00, 95% CI 1.25-3.19), sexual abuse (OR 2.66, 95% CI 1.88-3.75), and neglect (OR 1.74, 95% CI 1.35-2.23). PAFs suggest that over one-half of global depression and anxiety cases are potentially attributable to self-reported childhood maltreatment. A 10-25% reduction in maltreatment could potentially prevent 31.4-80.3 million depression and anxiety cases worldwide. CONCLUSION: This review provides robust evidence of childhood maltreatment increasing the risk for depression and anxiety, and reinforces the need for effective programs and policies to reduce its occurrence.

Prevalence and patterns of multimorbidity in northeastern China: a cross-sectional study.

OBJECTIVES: Information on multimorbidity in the general populations of developing countries is lacking. We examine the prevalence and patterns of multimorbidity in northeastern China. STUDY DESIGN: A cross-sectional study was conducted on adult residents in Jilin Province, northeastern China from June 2012 to August 2012. METHODS: Data were collected from a large cross-sectional study (n = 21,435) of adult community residents in Jilin Province in northeastern China. Multimorbidity, or co-morbidity, was defined as having two or more of 18 specified prevalent chronic diseases. A range of demographics, socio-economic factors, other risk factors and general mental health were used in describing the distribution of multimorbidity and in exploring the associations between them. RESULTS: Almost a quarter (24.7%) of the adults were found to be multimorbid for chronic diseases. Multimorbidity was more common among older adults, women, rural residents and those with low income. Smoking, increasing BMI and psychological distress were independently associated with multimorbidity. Multimorbid patients were frequent users of primary care. Most dyads of chronic diseases co-occurred more frequently than would be expected on the basis of chance. CONCLUSIONS: Researchers, clinicians and policy makers need to pay special attention to the health care challenges of multimorbidity and develop effective intervention strategies and programs to reduce the burden of multimorbidity.

To what extent do social support and mastery mediate the association between childhood maltreatment and depression? A sequential causal mediation analysis.

AIMS: This study aimed to examine the independent roles of various childhood maltreatment (CM) subtypes in the development of depression; quantify the joint mediation effect of social support and mastery in the association between subtypes of CM and depression and examine the additional contribution of mastery beyond the effect that is operating through social support to this relationship. METHODS: Data analysed were from the Zone d'Épidémiologie Psychiatrique du Sud-Ouest de Montréal, an ongoing longitudinal population-based study. In total, 1351 participants with complete information on the studied variables were included. The propensity score matching and inverse-probability weighted regression adjustment estimation methods were used to minimise the potential confounding in the relationship between CM and major depression. We then used inverse odds ratio-weighted estimation to estimate the direct effects of maltreatment and indirect effects of social support and mastery. RESULTS: We found that exposures to all maltreatment subtypes increased the risk of subsequent depression. The joint mediating effect of social support and mastery explained 37.63-46.97% of the association between different maltreatment subtypes and depression. The contribution of these two mediators differed by maltreatment subtypes, with social support being the major contributor to the mediating effect. CONCLUSIONS: The findings of the study not only provide scientific evidence on the importance of psychosocial attributes in the development of major depression but also suggest that prevention and invention strategies should focus on these psychosocial attributes to effectively break the vicious cycle of CM on major depression.

Specific and cumulative lifetime stressors in the aetiology of major depression: A longitudinal community-based population study.

AIMS: Early-life stressful circumstances (i.e. childhood maltreatment) coupled with stressful events later in life increase the likelihood of subsequent depression. However, very few studies have been conducted to examine the specific and cumulative effects of these stressors in the development of depression. There is also a paucity of research that simultaneously considers the role of biological factors combined with psychosocial stressors in the aetiology of depression. Guided by the biopsychosocial model proposed by Engel, the present study aims to examine to what extent the experience of stressors across the lifespan is associated with depression while taking into account the role of genetic predispositions. METHODS: Data analysed were from the Social and Psychiatric Epidemiology Catchment Area of the Southwest of Montreal (ZEPSOM), a large-scale, longitudinal community-based cohort study. A total of 1351 participants with complete information on the lifetime diagnoses of depression over a 10-year follow-up period were included in the study. Stressful events across the lifespan were operationalised as specific, cumulative and latent profiles of stressful experiences. Latent profile analysis (LPA) was used to explore the clustering of studied stressors including childhood maltreatment, poor parent-child relationship, and stressful life events. A polygenetic risk score was calculated for each participant to provide information on genetic liability. Multivariate logistic regression was used to examine the association between specific, cumulative and latent profiles of stressors and subsequent depression. RESULTS: We found that different subtypes of childhood maltreatment, child-parent bonding and stressful life events predicted subsequent depression. Furthermore, a significant association between combined effects of cumulative stressful experiences and depression was found [odds ratio (OR) = 1.20, 95% confidence interval (CI): 1.12-1.28]. Three latent profiles of lifetime stressors were identified in the present study and named as 'low-level of stress' (75.1%), 'moderate-level of stress' (6.8%) and 'high-level of stress' (18.1%). Individuals with a 'high-level of stress' had a substantially higher risk of depression (OR = 1.80, 95% CI: 1.08-3.00) than the other two profiles after adjusting for genetic predispositions, socio-demographic characteristics, and health-related factors. CONCLUSIONS: While controlling for genetic predispositions, the present study provides robust evidence to support the independent and cumulative as well as compositional effects of early- and later-on lifetime psychosocial stressors in the subsequent development of depression. Consequently, mental illness prevention and mental health promotion should target the occurrence of stressful events as well as build resilience in people so they can better cope with stress when it inevitably occurs.

Juvenile folliculotropic and ichthyosiform mycosis fungoides.

Ichthyosiform mycosis fungoides (MF) is a recently recognized clinical variant of MF, which appears as dry scaling patches and plaques, or as a generalized eruption. Acquired ichthyosis is well recognized as a paraneoplastic cutaneous presentation of malignancy, especially in lymphoproliferative disorders. In contrast, the ichthyosiform eruption in ichthyotic MF is attributable to infiltration of the skin by tumour cells. We report the case of a 15-year-old boy who presented with a 5-year history of enlarging pruritic plaques on the forehead and back, patchy alopecia and generalized ichthyosis. Histology of the forehead and back showed a dense, lymphocytic, folliculocentric and perivascular infiltrate of predominantly CD4-positive T cells consistent with folliculotropic MF. Histological examination of biopsies from ichthyotic skin found similar features. Our patient had a histological diagnosis at the age of 15 years, making him the youngest reported patient with either folliculotropic MF or ichthyotic MF.

Coping strategies and distress reduction in psychological well-being? A structural equation modelling analysis using a national population sample.

BACKGROUND: Little is understood about of the role of coping strategies in psychological well-being (PWB) and distress for the general population and different physical and psychiatric disease groups. A thorough examination of these relationships may provide evidence for the implementation of public mental health promotion and psychiatric disease prevention strategies aimed at improving the use of positive coping approaches or addressing the causes and maintainers of distress. The present study using a structural equation modelling (SEM) approach and nationally representative data on the Canadian population investigates the relationships among PWB, distress and coping strategies and identifies major factors related to PWB for both the general population and diverse-specific disease groups. METHODS: Data examined were from the Canadian Community Health Survey of Mental Health and Well-being (CCHS 1.2), a large national survey (n = 36 984). We applied exploratory factor analysis (EFA), confirmatory factor analysis and SEM to build structural relationships among PWB, distress and coping strategies in the general population. RESULTS: Both SEM measurement and structure models provided a good fit. Distress was positively related to negative coping and negatively related to positive coping. Positive coping indicated a higher level of PWB, whereas negative coping was associated with a lower level of PWB. PWB was negatively related to distress. These same relationships were also found in the population subgroups. For the population with diseases (both physical and psychiatric diseases, except agoraphobia), distress was the more important factor determining subjective PWB than the person's coping strategies, whereas, negative coping had a major impact on distress in the general population. Strengths and limitations were also discussed. CONCLUSIONS: Our findings have practical implications for public psychiatric disease intervention and mental health promotion. As previously noted positive/adaptive coping increased the level of PWB, whereas negative/maladaptive coping was positively related to distress and negatively related to PWB. Distress decreased the level of PWB. Our findings identified major correlates of PWB in both the general population and population subgroups. Our results provide evidence for the differential use of intervention tactics among different target audiences. In order to improve the mental health of the general population public mental health promotion should focus on strategies that reduce negative coping at a population level, whereas clinicians treating individual clients should make the reduction of distress their primary target to maintain or improve patients' PWB.

Work stress and physical assault of nursing aides in rural nursing homes with and without dementia special care units.

PURPOSE: This study compared nursing aides (NAs) employed in rural nursing homes with and without dementia special care units (SCUs) on (1) exposure to and distress from disruptive behaviours exhibited by residents, (2) job strain and (3) physical assault. DESIGN AND METHODS: The data were drawn from a larger study conducted in Saskatchewan, Canada, in which all rural nursing homes of < or = 100 beds that had an SCU were matched to same-sized rural facilities with no SCU. Nursing aides (n = 355) completed a mailed survey questionnaire. RESULTS: Nursing aides employed in nursing homes with an SCU reported significantly less frequent exposure to disruptive behaviours (including aggressive and aversive behaviours) than NAs in non-SCU facilities, less distress when these behaviours were directed toward them, less exposure to aggressive behaviour during caregiving, lower job demands and lower job strain. There was a trend toward increased risk of being assaulted in the last year associated with being in a non-SCU facility. Having a permanent position, increased job strain, and feeling inadequately prepared for dementia care were significantly associated with higher risk of being assaulted. In the SCU facilities, NAs who worked more time on the SCU reported more assaults but less distress from disruptive behaviour, lower psychological job demands, lower job strain and greater work autonomy. IMPLICATIONS: Providing more dementia care training and reducing job demands and job strain may help to reduce work-related stress and physical assault of nursing aides employed in nursing homes.

Longitudinal effect of amitriptyline and fluoxetine treatment on plasma phenylacetic acid concentrations in depression.

Unconjugated (U-PAA), conjugated (C-PAA), and total phenylacetic acid (T-PAA) concentrations in blood plasma and monoamine oxidase (MAO) activity in platelets towards phenylethylamine (PE) were determined in 40 drug-free, depressed patients (23 melancholic, 17 nonmelancholic) from five psychiatric treatment centers, and in 34 normal healthy volunteers. No significant differences were found between controls and all depressed patients or between melancholic and nonmelancholic depressed patients. Treatment of the depressed patients with amitriptyline or fluoxetine over a 6-week period resulted in clinical improvement and in a significant increase in plasma PAA concentrations. A decline in the Beck and Hamilton rating scores during treatment correlated significantly with increases in the concentrations of unconjugated, conjugated, and total phenylacetic acid but not with MAO activity, which did not change during treatment. At each of the three assessment times, however, plasma PAA concentrations and psychiatric rating scores were not significantly correlated. Except for higher end-of-study T-PAA concentrations in the amitriptyline-treated subjects, no significant differences were found between the effects of the two drugs with regard to plasma phenylacetic acid levels, MAO activity, or rating scores.

Maximizing the detection capability of a beet western yellows virus ELISA system.

Conditions for maximizing detection of a California isolate of beet western yellows virus (BWYV) were investigated with the double-sandwich enzyme-linked immunosorbent assay (ELISA) system. Within-plate variability was found to account for less than 1% of the total variation observed on individual microtiter plates. Variability across plates was greater than within plates and accounted for less than 10% of the total variation. Significant reductions in absorbance were observed when either coating or conjugated IgGs were incubated for 2 h at 37 degrees C. Incubation of coating IgGs overnight at 4 or 22 degrees C gave good results. No differences in absorbance were observed when antigen sources were incubated at 37, 22, or 4 degrees C. Absorbance at 1, 3 or 6 h incubation of conjugated IgGs at 4 or 22 degrees C was low to moderate but after 18 or 24 h absorbance was markedly increased without increasing background. Efficient extraction of virus from host and vector tissues increased absorbance. Carborundum added to the extraction buffer worked well when tissue samples were ground in a mortar and pestle but highest absorbance resulted when test samples were prepared with a high-speed tissue homogenizer. Background levels were unacceptably high when 10 or more Myzus persicae were pooled for analysis. Since virus can be detected in 3 or even 1 aphid, pooling for detection is unnecessary. Optimization of the BWYV ELISA system made possible the detection of virus quantities less than 2 ng/ml.

Influence of ELISA conditions on detection of serological relationships among luteoviruses.

Three variations in the ELISA procedure were used in an attempt to understand the basis for serological relationships among three isolates of barley yellow dwarf virus (BYDV-RPV-I from Illinois, BYDV-RPV-N from New York and BYDV-PAV from Illinois), beet western yellows virus (BWYV) and soybean dwarf virus (SDV). Detection of serological relationships was dependent on the state of the virus particle (e.g. dissociated or intact) and the method of detection (e.g. direct or indirect). In indirect ELISA, where virus particles were dissociated due to incubation in a high pH buffer, all five virus isolates were serologically related. In double antibody sandwich (DAS) ELISA, identification of serological relationships was based on detection of epitopes associated with intact virus particles, which resulted the detection of fewer serological relationships. Direct ELISA showed, depending on the Ig, that the state of the virus particle and/or the method of detection did effect the ability to detect some serological relationships.

A rapid chemiluminescent detection method for barley yellow dwarf virus.

Barley yellow dwarf virus (BYDV-PAV-IL) was detected with biotinylated in vitro transcript cDNA using a chemiluminescent substrate on nylon membranes. Signals were detected on X-ray film and quantified using either a densitometer or an ELISA plate reader. The time required for sample preparation was reduced so that the entire protocol could be completed in two days. The in vitro transcript probes could detect 1 ng of purified virus and as little as 1 microliter of sap extracts prepared from infected oat shoots.

Deuterium-labelled p-tyramine challenge test and phenolsulfotransferase activity in depressed patients--failure to replicate decreased p-tyramine conjugation in depression.

1. Depressed and normal subjects were challenged with deuterium-labelled p-tyramine and urine was collected for 3 h. 2. Urinary excretion of conjugated p-tyramine was not significantly different between normal, melancholic and non-melancholic depressed subjects. 3. Platelet phenolsulfotransferase activity to p-tyramine (p less than 0.05) and to phenol (p less than 0.005) were significantly lower in the depressed patients.

Social support and mental health: direct, protective and compensatory effects.

This study deals with the relationship between social support and mental health. This relationship was conceptualized as a multi-faceted one which may be understood in terms of direct (main), protective (buffering) and compensatory effects. Hypotheses relating to these effects were evaluated in terms of spousal/community support and job strains (pressure, autonomy, opportunities) among a sample of 455 married males who were employed on a full-time basis. Results indicated that spousal support generally had more important implications for psychological well-being than did community support. However, the relative impact of these different sources of support appeared to be related to the degree to which the mental health symptomology reported was affectively defined. With respect to protective effects, spousal support was found to moderate the relationship between certain job strains (pressure) and mental health. No protective effects were found for community support. Tests of the hypothesis that community support compensates for low levels of spousal support were made in terms of both direct and protective effects. No direct effect compensation was observed. However, protective effect compensation was observed for certain job strains (opportunities) and was relevant to a wide range of symptomology. The overall results suggest a primary/secondary hierarchy of supports and strains in which primary supports (e.g. spousal) assume a protective function with respect to secondary strains (e.g. job) while secondary supports (e.g. community) do not protect individuals from primary strains (e.g. spousal). Secondary supports have a protective function for secondary strains in the absence of primary supports. It is further suggested that sex roles may be important determinants of the availability and use of different support sources.

The influence of attractiveness factors and distance to general practice surgeries by level of social disadvantage and global access in Perth, Western Australia.

The impact on attendance of the distance to general practice surgeries, and the attributes offered by those surgeries, was investigated. One thousand and forty four subjects, selected at random from the metropolitan area of Perth, Western Australia, responded to a household interview survey concerning which attributes of general practice (GP) surgeries they found attractive and the identity of the surgery they preferred to attend. The sample was stratified by different levels of social disadvantage and by good and poor global levels of spatial accessibility of GP surgeries. In separate fieldwork, interviewers collected detailed environmental data from practice staff at 466 GP surgeries available to the community survey respondents within metropolitan Perth. Respondents living in areas of poor global access were more likely to attend their nearest surgery (25% vs. 6%) and to bypass fewer surgeries to attend a preferred surgery (median 2 vs. 20). Those who were most socially disadvantaged were less likely than those who were better off to bypass surgeries where global access was poor, but more likely to bypass nearby surgeries and to seek out a surgery that bulk billed in areas where global access was good. A number of attractiveness factors had an important influence on choice of surgery, including: 'easy to make an appointment'; 'generally sees patients on time'; 'pharmacy nearby'; 'bulk bills' and 'open at all on Sundays'. Respondents attending their nearest surgery were more likely to have all of their nominated 'very important' attributes satisfied at that surgery than non-attenders (40% vs. 16%). A logistic regression model, adjusting for distance effects and size of surgery, showed within each level of global access and social disadvantage a consistent increase in the odds of attending a surgery that satisfied the attributes desired by respondents.

In Situ Localization of Barley Yellow Dwarf Virus-PAV 17-kDa Protein and Nucleic Acids in Oats.

ABSTRACT Barley yellow dwarf virus strain PAV (BYDV-PAV) RNA and the 17-kDa protein were localized in BYDV-PAV-infected oat cells using in situ hybridization and in situ immunolocalization assays, respectively. The in situ hybridization assay showed labeling of filamentous material in the nucleus, cytoplasm, and virus-induced vesicles with both sense and antisense nucleic acid probes, suggesting that the filamentous material found in BYDV-PAV-infected cells contains viral RNA. BYDV-PAV negative-strand RNA was detected before virus particles were observed, which indicates that RNA replication is initiated before synthesis of viral coat protein in the cytoplasm. The 17-kDa protein was associated with filamentous material in the cytoplasm, nucleus, and virus-induced vesicles. The labeling densities observed using antibodies against the 17-kDa protein were similar in the nucleus and cytoplasm. No labeling of the 17-kDa protein was observed in plasmodesmata, but filaments in the nuclear pores occasionally were labeled. Since BYDV-PAV RNA and 17-kDa protein colocalized within infected cells, it is possible that single-stranded viral RNA is always associated with the 17-kDa protein in vivo. The 17-kDa protein may be required for viral nucleic acid filaments to traverse the nuclear membrane or other membrane systems.

Alcohol and drug dependency in Saskatchewan, 1969-1974.

The demographic characteristics and the trends in health care utilization of alcohol- and drug-dependent residents of the Canadian province of Saskatchewan from 1969 to 1974 are examined.

A controlled trial of cognitive behavioral treatment of panic in alcoholic inpatients with comorbid panic disorder.

Patients entering a 4-week inpatient alcoholism treatment program were screened for anxiety symptoms. Those with panic disorder with or without agoraphobia were randomly assigned to two groups. The treatment group received 12 hours of cognitive-behavioral treatment (CBT) for panic disorder in addition to the regular alcoholism treatment program: the control group received the regular program. Dropouts from the treatment group were also followed. Problem drinking and anxiety symptoms were measured at the start of the study, and at 3, 6, and 12 months posttreatment. Abstinence from drinking, and anxiety and mood symptoms improved after treatment in all of the groups; there were few differences in outcome between the groups. We concluded that this particular intervention had not been more effective than the regular alcohol treatment program in reducing problem drinking in those with panic disorder.