Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family.

AIM: To describe a large family with autosomal dominant parkinsonism. BACKGROUND: Seven genes are directly implicated in autosomally inherited parkinsonism. However, there are several multigenerational large families known with no identifiable mutation. MATERIAL AND METHODS: Family members were evaluated clinically, by history and chart review. Genetic investigation included SCA2, SCA3, UCHL1, SNCA, LRRK2, PINK1, PRKN, PGRN, FMR1 premutation, and MAPT. The proband underwent brain fluorodopa PET (FD-PET) scan, and one autopsy was available. RESULTS: Eleven patients had a diagnosis of Parkinson's disease (PD), nine women. Mean age of onset was 52 with tremor-predominant dopa-responsive parkinsonism. Disease progression was slow but severe motor fluctuations occurred. One patient required subthalamic nucleus deep-brain stimulation with a good motor outcome. One patient had mental retardation, schizophrenia and became demented, and another patient was demented. Three patients and also two unaffected subjects had mild learning difficulties. All genetic tests yielded negative results. FD-PET showed marked asymmetric striatal tracer uptake deficiency, consistent with PD. Pathological examination demonstrated no Lewy bodies and immunostaining was negative for alpha-synuclein. CONCLUSION: Apart from a younger age of onset and a female predominance, the phenotype was indistinguishable from sporadic tremor-predominant PD, including FD-PET scan results. As known genetic causes of autosomal dominant PD were excluded, this family harbors a novel genetic defect.

Association of socioeconomic status with sleep disturbances in the Swiss population-based CoLaus study.

OBJECTIVE: To examine the association of socioeconomic status (SES) with subjective and objective sleep disturbances and the role of socio-demographic, behavioural and psychological factors in explaining this association. METHODS: Analyses are based on 3391 participants (53% female, aged 40-81 years) of the follow-up of the CoLaus study (2009-2012), a population-based sample of the city of Lausanne, Switzerland. All participants completed a sleep questionnaire and a sub-sample (N = 1569) underwent polysomnography. RESULTS: Compared with men with a high SES, men with a low SES were more likely to suffer from poor sleep quality [prevalence ratio (PR) for occupational position = 1.68, 95% Confidence Interval (CI): 1.30-2.17], and to have long sleep latency (PR = 4.90, 95%CI: 2.14-11.17), insomnia (PR = 1.47, 95% CI: 1.12-1.93) and short sleep duration (PR = 3.03, 95% CI: 1.78-5.18). The same pattern was observed among women (PR = 1.29 for sleep quality, 2.34 for sleep latency, 2.01 for daytime sleepiness, 3.16 for sleep duration, 95%CIs ranging from 1.00 to 7.51). Use of sleep medications was not patterned by SES. SES differences in sleep disturbances were only marginally attenuated by adjustment for other socio-demographic, behavioural and psychological factors. Results from polysomnography confirmed poorer sleep patterns among participants with low SES (p <0.05 for sleep efficiency/stage shifts), but no SES differences were found for sleep duration. CONCLUSIONS: In this population-based sample, low SES was strongly associated with sleep disturbances, independently of socio-demographic, behavioural, and psychological factors. Further research should establish the extent to which social differences in sleep contribute to socioeconomic differences in health outcomes.

Predictive Factors for Intraocular Pressure Reduction after Phacoemulsification in Swiss Patients.

Background: Phacoemulsification is known to induce postoperative intraocular pressure (IOP) reduction, the degree of which varies according to glaucoma subtype and race. The authors set out to investigate the effect of cataract surgery on IOP, in a Swiss Caucasian population, and identify ocular predictive factors. Patients and Methods: 234 consecutive cases of 188 patients undergoing phacoemulsification between January 2011 and December 2012 were retrospectively reviewed and data collected. Exclusion criteria included acute angle closure, malignant glaucoma and pre-existing or subsequent glaucoma surgery. Pre- and post-operative visual acuity, IOP, gonioscopic findings, glaucoma medications, and laser treatments were recorded for eligible eyes. All eyes received the same postoperative regimen. Using multivariate analysis the predictive power of preoperative IOP, iridocorneal angle width, axial length on IOP reduction following phacoemulsification at months 3, 6 and 12 postoperatively were assessed. Eyes with narrow angles were compared against those with open angles. Results: 172 eyes of 121 patients met the inclusion criteria; mean age was 70.3 years (SD ± 10.7 years), with 77 males. Preoperatively median IOP was 16 mmHg (range 9-32 mmHg), mean number of glaucoma medications was 1.2 (SD ± 1.1), median visual acuity was 0.28 LogMAR (range 0-2.3LogMar). At 3 months post-operatively mean IOP decreased to 14 mmHg (p < 0.01) and remained statistically significantly reduced until 12 months, mean number of glaucoma medications was reduced to 1.0 and mean Snellen visual acuity increased to 0.8. Multivariate analysis revealed that pre-operative IOP and iridocorneal angle width (at 3 months) were significant predictive indicators of IOP reduction. At 12 months, IOP reduction was similar between open and narrow angle groups and total IOP reduction was no longer statistically significant. No intraoperative complications were recorded. Conclusions: Intraocular pressure reduction following phacoemulsification was greatest during the very early post-operative period, particularly in narrow angle patients. By one year, angle size was no longer predictive of IOP lowering, however pre-operative IOP and number of anti-glaucoma medications remained correlated with total IOP reduction.

Justice and Court Administrations, Their Workings and Efficiency in Switzerland : Aspects of Sentencing And Its Outcome In Swiss Cantons

The comparison of the operations of the administration of justice among cantons shows on one side large differences in the three major types of sentencing, in the use of pre-trial detention and the unsuspended prison sanction. When combined, one finds however very weak relationships when considering absolute, percentage or weighted results. On the other side, the outcome of these different policies is much paradoxical as there are no differences when comparing recidivism rates among cantons, despite strong differences in the use of pre-trial detention and the sentencing with prison sanctions. The paradoxical outcome of crime policies in terms of recidivism - e.g. the absence of differences of the outcome based on sanctions in the domain of less severe delinquency - suggests the need for more empirically informed crime policies. The role of justice administrators could be to participate in the dissemination of those findings as well as the dissemination of best practices among cantons with regard to outcomes and the use of resources - especially with consideration to the use of the prison sanction as it is the most costly and the most inefficient of all sanctions. Furthermore, the observance of the principle of equality before the law would be most likely be promoted.

Emergency department visits for non-life-threatening conditions : evolution over 13 years in a Swiss urban teaching hospital

INTRODUCTION: A large proportion of visits to our Emergency Department (ED) are for non-life-threatening conditions. We investigated whether patients' characteristics and reasons for consultation had changed over 13 years. METHODS: Consecutive adult patients with non-life-threatening conditions at triage were included in the spring of 2000 and in the summer of 2013. In both years patients completed a similar questionnaire, which addressed their reasons for consultation and any previous consultation with a general practitioner (GP). RESULTS: We included 581 patients in 2013 vs 516 in 2000, with a mean age of 44.5 years vs 46.4 years (p=0.128). Of these patients, 54.0% vs 57.0% were male (p=0.329), 55.5% vs 58.7% were Swiss (p=0.282), 76.4% were registered with a GP in both periods, but self-referral increased from 52.0% to 68.8% (p<0.001); 57.7% vs., 58.3% consulted during out-of- hours (p=0.821). Trauma-related visits decreased from 34.2% to 23.7% (p<0.001). Consultations within 12 hours of onset of symptoms dropped from 54.5% to 30.9%, and delays of ≥1 week increased from 14.3% to 26.9% (p<0.001). The primary motive for self-referral remained unawareness of an alternative, followed in 2013 by dissatisfaction with the GP's treatment or appointment. Patients who believed that their health problem would not require hospitalisation increased from 52.8% to 74.2% and those who were actually hospitalised decreased from 24.9% to 13.9% (all p<0.001). CONCLUSION: The number of visits for non-life-threatening consultations continue to increase. Our ED is used by a large proportion of patients as a convenient alternative source of primary care.

Prevalence and diversity of Chlamydiales in Swiss ruminant farms.

Chlamydia and Chlamydia-related bacteria are known to infect various organisms and may cause a wide range of diseases, especially in ruminants. To gain insight into the prevalence of these bacteria in the ruminant environment, we applied a pan-Chlamydiales PCR followed by sequencing to 72 ruminant environmental samples from water, feed bunks and floors. Chlamydiales from four family-level lineages were detected indicating a high biodiversity of Chlamydiales in ruminant farms. Parachlamydiaceae were detected in all three types of environmental samples and was the most abundant family-level taxon (60%). In contrast, only one bacterium from each of the following family-level lineages was identified: Chlamydiaceae, Criblamydiaceae and Simkaniaceae. The observed high prevalence of Parachlamydiaceae in water samples may suggest water as the main source of contamination for ruminants as well as their environment due to spoilage. The absence of reported infections in the investigated ruminant farms might indicate that either detected Chlamydiales are of reduced pathogenicity or infective doses have not been reached.

Gender inequalities in the response to combination antiretroviral therapy over time: the Swiss HIV Cohort Study.

OBJECTIVES: Gender-specific data on the outcome of combination antiretroviral therapy (cART) are a subject of controversy. We aimed to compare treatment responses between genders in a setting of equal access to cART over a 14-year period. METHODS: Analyses included treatment-naïve participants in the Swiss HIV Cohort Study starting cART between 1998 and 2011 and were restricted to patients infected by heterosexual contacts or injecting drug use, excluding men who have sex with men. RESULTS: A total of 3925 patients (1984 men and 1941 women) were included in the analysis. Women were younger and had higher CD4 cell counts and lower HIV RNA at baseline than men. Women were less likely to achieve virological suppression < 50 HIV-1 RNA copies/mL at 1 year (75.2% versus 78.1% of men; P = 0.029) and at 2 years (77.5% versus 81.1%, respectively; P = 0.008), whereas no difference between sexes was observed at 5 years (81.3% versus 80.5%, respectively; P = 0.635). The probability of virological suppression increased in both genders over time (test for trend, P < 0.001). The median increase in CD4 cell count at 1, 2 and 5 years was generally higher in women during the whole study period, but it gradually improved over time in both sexes (P < 0.001). Women also were more likely to switch or stop treatment during the first year of cART, and stops were only partly driven by pregnancy. In multivariate analysis, after adjustment for sociodemographic factors, HIV-related factors, cART and calendar period, female gender was no longer associated with lower odds of virological suppression. CONCLUSIONS: Gender inequalities in the response to cART are mainly explained by the different prevalence of socioeconomic characteristics in women compared with men.

Opening The Fortress : the work of public gaze on the Swiss asylum reality

The Fortress (La Forteresse) is a 2008 documentary film by Fernand Melgar that reports the Swiss asylum reality from a distant but committed point of view. The documentary describes the life of asylum seekers awaiting in a federal centre the decision to grant them-or not-refugee status. It subtly raises the issue of the role that "textual realities", grasped from the spectator's point of view, play in the production of public discourses. Most of all, it subtly poses the question of the (Swiss) spectator as an actor of the asylum policy, in the context of a semi-direct democracy. After evoking the notion of sensible experience for linking spectatorship to politics, we look at how the documentary invites its model spectator to accept the film's moral premises. Furthermore, focusing on the Swiss public sphere, we deliver an account of the reception by empirical spectators, notably by a group of leftist activists that tend to subvert Melgar's intentions. This two-fold analysis leads us to exhibit that, in a context of discursive struggles, The Fortress generates an original space of deliberation and experience, which appeals to the public to exercise their political agency on asylum policy without being constricted by an antagonist framework.

An 8-Item Short Form of the Inventory of Dimensions of Emerging Adulthood (IDEA) Among Young Swiss Men.

Emerging adulthood is a period of life transition, in which youths are no longer adolescents but have not yet reached full adulthood. Measuring emerging adulthood is crucial because of its association with psychopathology and risky behaviors such as substance use. Unfortunately, the only validated scale for such measurement has a long format (Inventory of Dimensions of Emerging Adulthood [IDEA]-31 items). This study aimed to test whether a shorter form yields satisfactory results without substantial loss of information among a sample of young Swiss men. Data from the longitudinal Cohort Study on Substance Use Risk Factors were used (N = 5,049). IDEA, adulthood markers (e.g., parenthood or financial independence), and risk factors (i.e., substance use and mental health issues) were assessed. The results showed that an 8-item, short-form scale (IDEA-8) with four factors (experimentation, negativity, identity exploration, and feeling in between) returned satisfactory results, including good psychometric properties, high convergence with the initial scale, and strong empirical validity. This study was a step toward downsizing a measure of emerging adulthood. Indeed, this 8-item short form is a good alternative to the 31-item long form and could be more convenient for surveys with constraints on questionnaire length. Moreover, it should help health care practitioners in identifying at-risk populations to prevent and treat risky behaviors.

Prospective pathways between heroin use and nonmedical use of prescription opioids: Trajectories among young Swiss men

BACKGROUND. So far few studies have focused on the last steps of drug-use trajectories. Heroin has been described as a final stage, but the non-medical use of prescription opioids (NMUPOs) is often associated with heroin use. There is, however, no consensus yet about which one precedes the other. AIMS. The objective of this study was to test which of these two substances was likely to be induced by the other using a prospective design. MATERIAL AND METHODS. We used data from the Swiss Longitudinal Cohort Study on Substance Use Risk Factors (C-SURF) to assess exposure to heroin and NMUPO at two times points (N = 5,041). Cross-lagged panel models provided evidence regarding prospective pathways between heroin and NMUPOs. Power analyses provided evidence about significance and clinical relevance. RESULTS. Results showed that heroin use predicted later NMUPO use (? = 1.217, p < 0.001) and that the reverse pathway was non-significant (? = 0.240, p = .233). Heroin use seems to be an important determinant, causing a 150% risk increase for NMUPO use at follow-up, whereas NMUPO use at baseline increases the risk of heroin use at follow-up by a mere non-significant 20%. CONCLUSIONS. Thus, heroin users were more likely to move to NMUPOs than non-heroin users, whereas NMUPO users were not likely to move to heroin use. The pathway of substance use seemed to include first heroin use, then NMUPO use.

Simultaneous use of alcohol, tobacco and cannabis in relation to severity of substance dependence: a study among young Swiss men

Objective: This study investigated patterns of the simultaneous use of alcohol, tobacco and cannabis among young polydrug users, and whether use of one substance might be a cue for use of another and associations with the severity of substance dependence. Methods: The study focused on 3 subsamples from the ongoing Swiss Cohort Study on Substance Use Risk Factors (C-SURF, N=5,990). It used 12 months of data on alcohol/tobacco co-users, alcohol/cannabis co-users and tobacco/cannabis co-users (N=2,660, 1,755 and 1,460 respectively. Simultaneous use, numbers of symptoms of substance dependence, and hazardous use of alcohol, tobacco and cannabis were assessed. The effect of simultaneous polydrug use (SPU) on the numbers of symptoms of substance dependence was tested using analysis of variance. Results: Polydrug use was most common as SPU, and less common as non/occasional SPU. Moreover, when participants started to use one substance while using another, the severity of substance dependence was more strongly associated with the triggered substance than with cue. Conclusions: This study highlights the necessity to take SPU into account. First, SPU rather than separate drug use was the most common pattern for polydrug users. Second, frequent SPU was associated with increased numbers of symptoms of substance dependence compared to non/occasional SPU. Furthermore, SPU may reveal the severity of substance use dependence, when substance use is triggered by a cue substance. For these reasons, SPU should be a serious cause for concern for prevention and intervention purposes.

Prevalence and risk factors for therapy escalation in ulcerative colitis in the Swiss IBD Cohort Study

BACKGROUND: Physicians traditionally treat ulcerative colitis (UC) using a step-up approach. Given the paucity of data, we aimed to assess the cumulative probability of UC-related need for step-up therapy and to identify escalation-associated risk factors. METHODS: Patients with UC enrolled into the Swiss IBD Cohort Study were analyzed. The following steps from the bottom to the top of the therapeutic pyramid were examined: (1) 5-aminosalicylic acid and/or rectal corticosteroids, (2) systemic corticosteroids, (3) immunomodulators (IM) (azathioprine, 6-mercaptopurine, methotrexate), (4) TNF antagonists, (5) calcineurin inhibitors, and (6) colectomy. RESULTS: Data on 996 patients with UC with a median disease duration of 9 years were examined. The point estimates of cumulative use of different treatments at years 1, 5, 10, and 20 after UC diagnosis were 91%, 96%, 96%, and 97%, respectively, for 5-ASA and/or rectal corticosteroids, 63%, 69%, 72%, and 79%, respectively, for systemic corticosteroids, 43%, 57%, 59%, and 64%, respectively, for IM, 15%, 28%, and 35% (up to year 10 only), respectively, for TNF antagonists, 5%, 9%, 11%, and 12%, respectively, for calcineurin inhibitors, 1%, 5%, 9%, and 18%, respectively, for colectomy. The presence of extraintestinal manifestations and extended disease location (at least left-sided colitis) were identified as risk factors for step-up in therapy with systemic corticosteroids, IM, TNF antagonists, calcineurin inhibitors, and surgery. Cigarette smoking at diagnosis was protective against surgery. CONCLUSIONS: The presence of extraintestinal manifestations, left-sided colitis, and extensive colitis/pancolitis at the time of diagnosis were associated with use of systemic corticosteroids, IM, TNF antagonists, calcineurin inhibitors, and colectomy during the disease course.