Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.

Urea cycle disorders (UCDs) are inherited disorders of ammonia detoxification often regarded as mainly of relevance to pediatricians. Based on an increasing number of case studies it has become obvious that a significant number of UCD patients are affected by their disease in a non-classical way: presenting outside the newborn period, following a mild course, presenting with unusual clinical features, or asymptomatic patients with only biochemical signs of a UCD. These patients are surviving into adolescence and adulthood, rendering this group of diseases clinically relevant to adult physicians as well as pediatricians. In preparation for an international workshop we collected data on all patients with non-classical UCDs treated by the participants in 20 European metabolic centres. Information was collected on a cohort of 208 patients 50% of which were ≥ 16 years old. The largest subgroup (121 patients) had X-linked ornithine transcarbamylase deficiency (OTCD) of whom 83 were female and 29% of these were asymptomatic. In index patients, there was a mean delay from first symptoms to diagnosis of 1.6 years. Cognitive impairment was present in 36% of all patients including female OTCD patients (in 31%) and those 41 patients identified presymptomatically following positive newborn screening (in 12%). In conclusion, UCD patients with non-classical clinical presentations require the interest and care of adult physicians and have a high risk of neurological complications. To improve the outcome of UCDs, a greater awareness by health professionals of the importance of hyperammonemia and UCDs, and ultimately avoidance of the still long delay to correctly diagnose the patients, is crucial.

Contribution à une étude normative de l'épreuve de Rorschach auprès d'un groupe d'enfants de 8 à 14 ans non-consultants

Cette étude normative de l'épreuve de Rorschach porte sur une population suisse de 102 enfants et adolescents non-consultants de 8 à 14 ans, répartis par tranches d'âge, sexe et niveau intellectuel. Elle présente un aperçu des différentes méthodes utilisées dans l'interprétation du Rorschach et des normes francophones existantes. Une réflexion est aussi proposée autour de la question de l'utilité de l'analyse des facteurs quantitatifs au Rorschach. Suite à une présentation détaillée de la méthodologie de recherche, les résultats sont exposés et comparés aux normes antérieures. Ils ne révèlent pas de différences importantes avec ces dernières, à l'exception de la hausse du F%, de la baisse du F+% et du nombre de Banalités. Les comparaisons Age, Sexe et QI révèlent quelques différences entre les groupes.

"We do have space in Lausanne. We have a large cemetery": The non-controversy of a non-existent Muslim burial ground

In the context of the administration of spaces assigned by municipalities for the burial of the dead, this article provides a critical analysis of the techniques for the governance of political collectives of citizens implemented by public authorities. More broadly, this article shows how funerary practices (i.e. the social practices surrounding death-the rituals, the legislation, etc.) can be used to develop a critical reading of the social relations that structure the social production of space. To this end, the authors use the conceptual tools provided by critical legal geography to explore the controversy surrounding the development of a 'carré confessionnel' (denominational area) within the Bois-de-Vaux Cemetery in Lausanne, Switzerland. Here, a focus on the techniques that allow 'nomosphere' technicians to convene a subset of the citizens within the public space reveals the administration of cemeteries as a means of governance, a method for mobilising bodies and a paradoxical means of managing flux.

Allergo-immunologie. 2 : Les réactions allergiques aux anti-inflammatoires non stéroïdiens [Allergic reactions to nonsteroidal anti-inflammatory drugs]

Allergy to nonsteroidal antiinflammatory drugs (NSAIDs) is a very common affliction, especially among patients with asthma and chronic urticaria. These reactions are most often of a non-immunological nature but related to pharmacologic intolerance and linked to arachidonic acid metabolism and leukotriene release. Therefore, crossed reactions implying all non-selective and semi-selective NSAIDs constitute the rule, especially during respiratory reactions to NSAIDs and for patients with chronic urticaria. In isolated acute urticaria, crossed reactions are difficult to predict so caution is necessary. Tolerance induction is possible, especially when aspirin has to be administered in small doses as antiplatelet agent. Finally, acetaminophen and selective NSAIDs as celecoxib are well tolerated by most of these patients. L'allergie aux anti-inflammatoires non stéroïdiens (AINS) est très fréquente, en particulier chez les asthmatiques ou dans l'urticaire chronique. Il s'agit en général de réactions non immunologiques, mais dues à une intolérance pharmacologique liée au métabolisme de l'acide arachidonique et à la formation de leucotriènes. Ainsi, les réactions croisées impliquant tous les AINS non sélectifs et semi-sélectifs sont la règle, surtout lors de réactions respiratoires aux AINS et dans l'urticaire chronique. Lors d'urticaire aiguë isolée, les réactions croisées sont difficiles à prédire, ainsi la prudence s'impose. Une induction de tolérance est possible, en particulier lorsque l'aspirine est nécessaire à dose faible, comme antiagrégant plaquettaire. Enfin, le paracétamol et les AINS sélectifs sont supportés par la grande majorité de ces patients.

Bosentan and/or Sildenafil for non-operable chronic thromboembolic pulmonary hypertension

Objectives: To evaluate outcome of patients treated "off-label" by bosentan and/or sildenafil for chronic thromboembolic pulmonary hypertension (CTEPH). Patients and methods: Since 2003, 18 patients (mean age 69 ± 11 years) have been treated with bosentan and/or sildenafil for CTEPH (mean pulmonary arterial resistance 8.1 ± 3.7 U Wood) in Lausanne University Hospital, with a follow-up of at least 12 months. Sixteen of them were inoperable because of distal disease and/or age or significant co-morbidities and 2 had persistent or recurrent pulmonary hypertension despite surgery. Efficacy of treatment was evaluated by comparison of New York Heart Association functional class (NYHA), six-minute walk test (6-MWT) and serum levels of N-terminal-pro brain natriuretic peptide (NT pro-BNP) at baseline (T0) and at 12 months (T12). Wilcoxon rank test was used for statistics. Results: At T0, median NYHA class was III (range II-IV), 6-MWT was 348 meters (5 and 95 centiles:0, 539) and NT pro-BNP was 387 mmol/l (58, 3508). At T12, 11 patients were treated with bosentan, 5 with sildenafil, 1 with inhaled Iloprost (because of failure of the two other treatments) and 1 with a combination of sildenafil and Iloprost. NYHA had improved in 10 patients, remained stable in 7 and worsened in 1 (median decrease 0.5 (-2; 0.2) p = 0.013). Six-MWT improved by a median of 15 meters (-142, +270) (p = 0.047) and NT pro-BNP decreased by a median of 65 mmol/l (-2988, +187) (p = n.s.). Among the 10 patients with a follow-up of 2 years or longer, two thirds remained stable and one third had worsened at 24 month. Treatments were well tolerated and only one patient had significant side effects (cutaneous reaction to bosentan) necessitating a switch to another treatment. Conclusion: In agreement with published data, bosentan and sildenafil improved functional status (NYHA, 6-MWT) and haemodynamics (NT pro BNP) in our patients with inoperable CTEPH. However these medications should not be used as substitute for surgery when the latter is applicable.

Functional multidisciplinary rehabilitation versus outpatient physiotherapy for non specific low back pain: randomized controlled trial.

INTRODUCTION: In recent decades the treatment of non-specific low back pain has turned to active modalities, some of which were based on cognitive-behavioural principles. Non-randomised studies clearly favour functional multidisciplinary rehabilitation over outpatient physiotherapy. However, systematic reviews and meta-analysis provide contradictory evidence regarding the effects on return to work and functional status. The aim of the present randomised study was to compare long-term functional and work status after 3-week functional multidisciplinary rehabilitation or 18 supervised outpatient physiotherapy sessions. METHODS: 109 patients with non-specific low back pain were randomised to either a 3-week functional multidisciplinary rehabilitation programme, including physical and ergonomic training, psychological pain management, back school and information, or 18 sessions of active outpatient physiotherapy over 9 weeks. Primary outcomes were functional disability (Oswestry) and work status. Secondary outcomes were lifting capacity (Spinal Function Sort and PILE test), lumbar range-of-motion (modified-modified Schöber and fingertip-to-floor tests), trunk muscle endurance (Shirado and Biering-Sörensen tests) and aerobic capacity (modified Bruce test). RESULTS: Oswestry disability index was improved to a significantly greater extent after functional multidisciplinary rehabilitation compared to outpatient physiotherapy at follow-up of 9 weeks (P = 0.012), 9 months (P = 0.023) and 12 months (P = 0.011). Work status was significantly improved after functional multidisciplinary rehabilitation only (P = 0.012), resulting in a significant difference compared to outpatient physiotherapy at 12 months' follow-up (P = 0.012). Secondary outcome results were more contrasted. CONCLUSIONS: Functional multidisciplinary rehabilitation was better than outpatient physiotherapy in improving functional and work status. From an economic point of view, these results should be backed up by a cost-effectiveness study.

Imagerie cardiaque non invasive: apport spécifique en clinique des nouvelles modalités (I). Evaluation morphologique [Cardiac imaging: specific clinical role of newly developed non invasive techniques. Part 1: Morphological evaluation].

Echocardiography is the preferred initial test to assess cardiac morphology and ventricular function. Cardiac MRI enables an optimal visualisation of heart muscle without contrast injection, and precise measurement of the ventricular volumes and systolic function. It is therefore an ideal test for patients with poor echocardiographic windows or for the specific evaluation of right heart chambers. Heart CT also remarkably images heart muscle and precisely measures ventricular systolic function after intravenous injection of iodinated contrast. Coronary CT may also, in selected cases, avoid the need for diagnostic coronary angiography. Although very accurate, these imaging modalities are expensive and may be contra-indicated for a particular patient. Their use in clinical practice has to follow the accepted guidelines.

Successful surgical resection in non-lesional operculo-insular epilepsy without intracranial monitoring.

Pre-operative assessment and surgical management of patients with non-lesional extratemporal epilepsy remain challenging due to a lack of precise localisation of the epileptic zone. In most cases, invasive recording with depth or subdural electrodes is required. Here, we describe the case of 6.5-year-old girl who underwent comprehensive non-invasive phase I video-EEG investigation for drug-resistant epilepsy, including electric source and nuclear imaging. Left operculo-insular epilepsy was diagnosed. Post-operatively, she developed aphasia which resolved within one year, corroborating the notion of enhanced language plasticity in children. The patient remained seizure-free for more than three years.

Non-remboursement de la fécondation in vitro : il est temps de changer d'avis

La fécondation in vitro (FIV) n'est pas remboursée. Le Tribunal fédéral le répète inlassablement depuis bientôt 30 ans. Néanmoins, les assurées ne baissent pas les bras et périodiquement resoumettent la question, espérant que de nouvelles données scientifiques sauront infléchir la Haute Cour. En vain. Le tribunal l'a redit en octobre 2012:1 cette prestation n'est pas à charge des caisses.2 L'ordonnance sur les prestations de l'assurance-maladie (OPAS3) le prévoit explicitement, et il n'y a simplement pas lieu d'examiner une disposition d'une ordonnance du Département fédéral de l'intérieur (DFI). Le raisonnement est toutefois un peu court. Premièrement, le refus du Tribunal fédéral d'examiner si l'ordonnance respecte le cadre de la délégation législative ne convainc pas. Deuxièmement, la FIV remplit les critères imposés à la prise en charge tels que décidés par le législateur dans la loi sur l'assurance-maladie (LAMal4). Enfin, les assurés qui décident de recourir contre un refus de remboursement sont privés des garanties minimales de procédure que leur garantit pourtant la Convention européenne des droits de l'homme. La présente contribution commence par une brève description de la FIV. Elle expose ensuite la législation applicable (partie 2) et la jurisprudence fédérale qui en découle (partie 3). La partie suivante critique la position du Tribunal fédéral au regard des principes énoncés dans la législation. Une comparaison avec l'insémination intra-utérine (IIU), pour laquelle le Tribunal fédéral a admis le remboursement, met en lumière les incohérences de la jurisprudence. La compatibilité de la jurisprudence fédérale avec l'art. 6 de la Convention européenne sur les droits de l'homme est évaluée. La conclusion plaide pour une réforme partielle du système procédural gouvernant la prise en charge des prestations de soins, mais aussi des techniques médicales alternatives.

Intérêt de l'angiographie numérisée au vert d'indocyanine dans le diagnostic différentiel des tumeurs non pigmentées de la choroïde [Value of indocyanine green videoangiography in differential diagnosis of nonpigmented tumors of the choroid]

BACKGROUND: Indocyanine green video-angiography (ICG) is a recent examination technique, its possibilities and limitations as far as intraocular tumours are concerned, haven't been fully explored yet. MATERIAL AND METHODS: We have studied 50 cases of non-pigmented choroidal tumours, including 14 cases of choroidal hemangioma's, 11 cases of posterior uveal metastases and 25 cases of non-pigmented melanoma's. RESULTS: Characteristic images were obtained when examining choroidal hemangioma's and, until a certain point, posterior choroidal metastases. Non pigmented melanoma's on the contrary, presented a great variety of different indocyanine green angiographic pictures. CONCLUSION: Indocyanine green video-angiography (ICG) has a definite value in the differential diagnosis of non-pigmented posterior choroidal tumours.

Prescribing practices in German and Swiss psychiatric university and in non-university hospitals : national differences

RÉSUMÉ Il existe dans la pratique de prescription des médicaments de grandes variations entre les hôpitaux. Ces variations sont d'origines multifactorielles, comme par exemple des traditions de prescriptions locales, des considérations pharmato-économiques, la disponibilité d'un médicament, des différences de population, la prévalence d'une maladie, etc. Les études disponibles sur les pratiques de prescription sont souvent réduites à un centre unique, à une région ou à un pays. L'emploi de méthodes et de définitions particulières a jusqu'à pressent limité des comparaisons plus étendues entre les pays et régions. Le but de cette étude est de comparer la pratique de prescription de nouveaux médicaments psychotropes dans des cliniques suisses et allemandes. Cinq hôpitaux psychiatriques ont été sélectionnés, faisant tous partie du projet AMSP, et représentant des cliniques suisses, allemandes, de niveau universitaire ou non. Des données sur 572 patients et 1745 prescriptions ont été collectées durant un jour précis. Les comparaisons ont été ajustées pour l'âge et le sexe. Une différence significative (p <0.001) a été trouvée dans la prescription de nouveaux médicaments antidépresseurs, les cliniciens suisses en donnant en moyenne plus (65.2%) que les allemands (48.3%). Aucune différence significative n'a été démontrée dans la prescription des nouveaux médicaments antipsychotiques atypiques. Il semble en conséquence que les psychiatres suisses ont une propension plus élevée à prescrire des nouveaux médicaments antidépresseurs. Cela semble être dû à des différences de traditions de prescriptions nationales ou régionales. D'autres études sont nécessaires pour investiguer les influences économiques sur la pratique de prescription dans des cliniques suisses et allemandes. SUMMARY Obiective: There are great variations between hospitals in the way drugs are prescribed and these variations may be due to multiple factors such as local prescribing traditions, pharmacoeconomic considerations, drug availability; regional differences of population, disease prevalence etc. Available studies on prescribing habits have, besides studies performed in a unique centre, until now often been restricted to single countries or regions and the comparisons across countries or regions have often been limited by the use of diverse methodologies and definitions. The aim of the present study was to compare drug prescriptions between German and Swiss psychiatric services with regard to their preference of newer psychotropics. Material, method: Five psychiatric hospitals, associated to the AMSP-project, were chosen to represent Swiss and German clinics, university and non-university settings. Data were available from one index day on 572 patients and 1745 prescriptions. The comparisons were adjusted for age and gender. Results: There was a significant difference (p < 0.001) with regard to the prescription of newer antidepressants (NAD), Swiss clinicians giving proportionally more (65.2 %) than the German psychiatrists (48.3 %). No significant difference was, on the other hand, found as to the proportion of atypical antipsychotics, the lack of difference being due to the higher proportion of clozapine among the atypical antipsychotics in Germany. Conclusion: There seems therefore to be a higher propensity for Swiss hospital psychiatrists to prescribe newer antidepressants. This seems to be due to national or regional prescribing traditions. Further studies are needed to investigate the economical influences on antidepressant prescribing in Swiss and German clinics.)

Non-medical prescription drug and illicit street drug use among young Swiss men and associated mental health issues.

Non-medical use of prescription drugs (NMUPD) is increasing among the general population, particularly among teenagers and young adults. Although prescription drugs are considered safer than illicit street drugs, NMUPD can lead to detrimental consequences. The aim of the present study was to investigate the relationship between drug use (NMUPD on the one side, illicit street drugs on the other side) with mental health issues and then compare these associations. A representative sample of 5719 young Swiss men aged around 20 years filled in a questionnaire as part of the ongoing baseline Cohort Study on Substance Use Risk Factors (C-SURF). Drug use (16 illicit street drugs and 5 NMUPDs, including sleeping pills, sedatives, pain killers, antidepressants, stimulants) and mental health issues (depression, SF12) were assessed. Simple and multiple linear regressions were employed. In simple regressions, all illicit and prescription drugs were associated with poorer mental health. In multiple regressions, most of the NMUPDs, except for stimulants, were significantly associated with poorer mental health and with depression. On the contrary, the only associations that remained significant between illicit street drugs and mental health involved cannabis. NMUPD is of growing concern not only because of its increasing occurrence, but also because of its association with depression and mental health problems, which is stronger than the association observed between these problems and illicit street drug use, excepted for cannabis. Therefore, NMUPD must be considered in screening for substance use prevention purposes.