La croisade tardive : des plans du début du XIVe siècle à la défaite de Nicopolis

L’idée de la croisade reste présente toute au long du XIVe siècle comme bien le prouvent les projets écrits durant le siècle. Les théoriciens de la croisade décrivent minutieusement les mesures à suivre pour récupérer la Terre sainte. Deux éléments sont nécessaires pour pouvoir entreprendre une nouvelle expédition : la paix entre les princes chrétiens et l’union de l’Église. Au XIVe siècle, un transfert s’opère naturellement, et le mouvement de recuperatio de la Terre sainte se projette contre les ennemis les plus proches de la chrétienté, faisant de toute guerre contre le Turc une guerre sainte. À partir de la deuxième moitié du XIVe siècle, la diplomatie joue un rôle crucial dans la prédication de la croisade. Dans ce contexte idéologique, à l’appel du roi de Hongrie, Sigismond de Luxembourg, les puissances chrétiennes tentent de se coaliser pour arrêter l’avancée ottomane en Europe, mais elles sont défaites à Nicopolis, en 1396. Pour la chevalerie française, la campagne était une opportunité de montrer sa vaillance, mais pour elle la croisade prend une allure de chevauchée plutôt que de guerre sainte.

L'évolution de la représentation des Perses Sassanides dans les sources écrites de l'Antiquité tardive, d'Ammien Marcellin à Procope de Césarée.

Ce mémoire explore le lien entre les relations politiques entretenues par l’empire romain et le royaume sassanide et la représentation que faisaient des Perses les auteurs de l’antiquité tardive. Une tradition littéraire défavorable aux orientaux est en effet perceptible tout au long de l’antiquité : les Perses, notamment, sont ainsi cruels, lâches, efféminés, paresseux et perfides. Ces topoi, dont les racines se retrouvent dès le 5e siècle avant J.-C., évoluent-ils à la fin de l’antiquité, lorsque la puissance des Sassanides rivalise avec celle des empereurs? S’appuyant sur les travaux des dernières années sur l’altérité et sur l’ethnographie antique, ce mémoire s’efforce d’autre part de mieux comprendre les Romains en eux-mêmes en faisant l’analyse de leur rapport à leurs voisins.

Caractérisation génétique d’une forme d’ataxie tardive.

Les ataxies forment un groupe de maladies neurodégénératives qui sont caractérisées par un manque de coordination des mouvements volontaires. Mes travaux ont porté sur une forme d'ataxie à début tardif (LOCA), après l’âge de 50 ans. Les principales caractéristiques cliniques sont: atrophie cérébelleuse à l’IRM (88%), dysarthrie (81%), atrophie du lobe frontal (50%) et nystagmus (52%). La ségrégation dans les familles de cette ataxie est en faveur d’une transmission récessive. Afin d'identifier le gène responsable de LOCA, nous avons recruté 38 patients affectés d'une forme tardive d'ataxie, issus du SLSJ, des Cantons de l’Est ou d’autres régions du Québec. Un premier criblage du génome a été effectué avec des marqueurs microsatellites sur une famille clé. Une analyse de liaison paramétrique nous a suggéré une liaison au chromosome 13 (4.4Mb). Une recherche d’un haplotype partagé entre 17 familles LOCA a diminué la taille de l'intervalle candidat à 1.6Mb, mais l’haplotype s’est avéré fréquent dans la population canadienne-française. Un second criblage du génome avec des marqueurs SNP nous a permis d’évaluer par cartographie d’homozygotie la possibilité qu’une mutation fondatrice partagée dans des sous-groupes de malades. Plusieurs stratégies d'analyse ont été effectuées, entre autre par regroupement régional. Aucun loci candidats ne fut identifié avec confiance. Nous avons donc combiné les données de génotypage avec le séquençage exomique afin d'identifier le gène responsable. L'analyse de six individus atteints nous a permis d'obtenir une liste de variants rare contenant quatre gènes potentiels. Cette analyse doit se poursuivre pour identifier le gène responsable de LOCA.

Théâtre et intermédialité : une rencontre tardive

Si les études intermédiales, qui sont nées dans le sillon de la révolution numérique, n’ont pas vingt ans, les processus qu’elles contribuent à mettre au jour remontent bien au-delà de cette dernière vague technologique majeure, comme l’a clairement illustré « Remediation : understanding new media », l’ouvrage-clé que Jay Davis Bolter et Richard Grusin publiaient en 2000. [...]

Spiral drawing during self-rated dyskinesia is more impaired than during self-rated off

Background: A mobile device test battery, consisting of a patient diary collection section with disease-related questions and a fine motor test section (including spiral drawing tasks), was used by 65 patients with advanced Parkinson's disease (PD)(treated with intraduodenal levodopa/carbidopa gel infusion, Duodopa®, or candidates for this treatment) on 10439 test occasions in their home environments. On each occasion, patients traced three pre-drawn Archimedes spirals using an ergonomic stylus and self-assessed their motor function on a global Treatment Response Scale (TRS) ranging from -3 = very 'off' to 0 = 'on' to +3 = very dyskinetic. The spirals were processed by a computer-based method that generates a "spiral score" representing the PD-related drawing impairment. The scale for the score was based on a modified Bain & Findley rating scale in the range from 0 = no impairment to 5 = moderate impairment to 10 = extremely severe impairment. Objective: To analyze the test battery data for the purpose to find differences in spiral drawing performance of PD patients in relation to their self-assessments of motor function. Methods: Three motor states were used in the analysis; OFF state (including moderate and very 'off'), ON state ('on') and a dyskinetic (DYS) state (moderate and very dyskinetic). In order to avoid the problem of multiple test occasions per patient, 200 random samples of single test occasions per patient were drawn. One-way analysis of variance, ANOVA, test followed by Tukey multiple comparisons test was used to test if mean values of spiral test parameters, i.e. the spiral score and drawing completion times (in seconds), were different among the three motor states. Statistical significance was set at p<0.05. To investigate changes in the spiral score over the time-of-day test sessions for the three motor states, plots of statistical summaries were inspected. Results: The mean spiral score differed significantly across the three self-assessed motor states (p<0.001, ANOVA test). Tukey post-hoc comparisons indicate that the mean spiral score (mean ± SD; [95% CI for mean]) in DYS state (5.2 ± 1.8; [5.12, 5.28]) was higher than the mean spiral score in OFF (4.3 ± 1.7; [4.22, 4.37]) and ON (4.2 ± 1.7; [4.17, 4.29]) states. The mean spiral score was also significantly different among individual TRS values of slightly 'off' (4.02 ± 1.63), 'on' (4.07 ± 1.65) and slightly dyskinetic (4.6 ± 1.71), (p<0.001). There were no differences in drawing completion times among the three motor states (p=0.509). In the OFF and ON states, patients drew slightly more impaired spirals in the afternoon whereas in the DYS state the spiral drawing performance was more impaired in the morning. Conclusion: It was found that when patients considered themselves as being dyskinetic spiral drawing was more impaired (nearly one unit change in a 0-10 scale) compared to when they considered themselves as being 'off' and 'on'. The spiral drawing at patients that self-assessed their motor state as dyskinetic was slightly more impaired in the morning hours, between 8 and 12 o'clock, a situation possibly caused by the morning dose effect.

Factors influencing age at diagnosis of primary ciliary dyskinesia in European children

Primary ciliary dyskinesia (PCD) is a hereditary disorder of mucociliary clearance causing chronic upper and lower airways disease. We determined the number of patients with diagnosed PCD across Europe, described age at diagnosis and determined risk factors for late diagnosis. Centres treating children with PCD in Europe answered questionnaires and provided anonymous patient lists. In total, 223 centres from 26 countries reported 1,009 patients aged < 20 yrs. Reported cases per million children (for 5-14 yr olds) were highest in Cyprus (111), Switzerland (47) and Denmark (46). Overall, 57% were males and 48% had situs inversus. Median age at diagnosis was 5.3 yrs, lower in children with situs inversus (3.5 versus 5.8 yrs; p < 0.001) and in children treated in large centres (4.1 versus 4.8 yrs; p = 0.002). Adjusted age at diagnosis was 5.0 yrs in Western Europe, 4.8 yrs in the British Isles, 5.5 yrs in Northern Europe, 6.8 yrs in Eastern Europe and 6.5 yrs in Southern Europe (p < 0.001). This strongly correlated with general government expenditures on health (p < 0.001). This European survey suggests that PCD in children is under-diagnosed and diagnosed late, particularly in countries with low health expenditures. Prospective studies should assess the impact this delay might have on patient prognosis and on health economic costs across Europe.

Resting tremor in Parkinson disease: a negative predictor of levodopa-induced dyskinesia

It is unclear whether patients with different clinical subtypes of Parkinson disease (PD) differ in their risk of developing levodopa-induced dyskinesia (LID) and whether resting tremor is negatively correlated with this risk.

Primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is an autosomal recessive disease with an incidence estimated between 1:2,000 and 1:40,000. Ciliated epithelia line the airways, nasal and sinus cavities, Eustachian tube and fallopian tubes. Congenital abnormalities of ciliary structure and function impair mucociliary clearance. As a consequence, patients present with chronic sinopulmonary infections, recurrent glue ear and female subfertility. Similarities in the ultrastructure of respiratory cilia, nodal cilia and sperm result in patients with PCD also presenting with male infertility, abnormalities of left-right asymmetry (most commonly situs inversus totalis) and congenital heart disease. Early diagnosis is essential to ensure specialist management of the respiratory and otological complications of PCD. Diagnostic tests focus on analysis of ciliary function and electron microscopy structure. Analysis is technically difficult and labour intensive. It requires expertise for interpretation, restricting diagnosis to specialist centres. Management is currently based on the consensus of experts, and there is a pressing need for randomised clinical trials to inform treatment.

Orofacial dyskinesia induced by nasal Ritalin(R) (methylphenidate) sniffing: A rare case report from Switzerland

Ritalin® (methylphenidate) is an amphetamine-like prescription stimulant commonly used in the treatment of attention deficit hyperactivity disorder in children and adults. Recently, the recreational use of Ritalin has increased, particularly among young adults. Well-known symptoms of intoxication include signs of sympathetic nervous stimulation, such as agitation, anxiety, tachycardia, hypertension, headache, tremor, and dizziness. This case report describes oral dyskinesia as a rare presentation of Ritalin intoxication, with the review of pathophysiology and some epidemiological data.

Management of primary ciliary dyskinesia in European children: recommendations and clinical practice

The European Respiratory Society Task Force on primary ciliary dyskinesia (PCD) in children recently published recommendations for diagnosis and management. This paper compares these recommendations with current clinical practice in Europe. Questionnaires were returned by 194 paediatric respiratory centres caring for PCD patients in 26 countries. In most countries, PCD care was not centralised, with a median (interquartile range) of 4 (2-9) patients treated per centre. Overall, 90% of centres had access to nasal or bronchial mucosal biopsy. Samples were analysed by electron microscopy (77%) and ciliary function tests (57%). Nasal nitric oxide was used for screening in 46% of centres and saccharine tests in 36%. Treatment approaches varied widely, both within and between countries. European region, size of centre and the country's general government expenditure on health partly defined availability of advanced diagnostic tests and choice of treatments. In conclusion, we found substantial heterogeneity in management of PCD within and between countries, and poor concordance with current recommendations. This demonstrates how essential it is to standardise management and decrease inequality between countries. Our results also demonstrate the urgent need for research: to simplify PCD diagnosis, to understand the natural history and to test the effectiveness of interventions.

Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children

Primary ciliary dyskinesia (PCD) is associated with abnormal ciliary structure and function, which results in retention of mucus and bacteria in the respiratory tract, leading to chronic oto-sino-pulmonary disease, situs abnormalities and abnormal sperm motility. The diagnosis of PCD requires the presence of the characteristic clinical phenotype and either specific ultrastructural ciliary defects identified by transmission electron microscopy or evidence of abnormal ciliary function. Although the management of children affected with PCD remains uncertain and evidence is limited, it remains important to follow-up these patients with an adequate and shared care system in order to prevent future lung damage. This European Respiratory Society consensus statement on the management of children with PCD formulates recommendations regarding diagnostic and therapeutic approaches in order to permit a more accurate approach in these patients. Large well-designed randomised controlled trials, with clear description of patients, are required in order to improve these recommendations on diagnostic and treatment approaches in this disease.

[Primary ciliary dyskinesia (Pcd) in Austria]

INTRODUCTION: Primary ciliary dyskinesia (PCD) is a rare hereditary recessive disease with symptoms of recurrent pneumonia, chronic bronchitis, bronchiectasis, and chronic sinusitis. Chronic rhinitis is often the presenting symptom in newborns and infants. Approximately half of the patients show visceral mirror image arrangements (situs inversus). In this study, we aimed 1) to determine the number of paediatric PCD patients in Austria, 2) to show the diagnostic and therapeutic modalities used in the clinical centres and 3) to describe symptoms of children with PCD. PATIENTS, MATERIAL AND METHODS: For the first two aims, we analysed data from a questionnaire survey of the European Respiratory Society (ERS) task force on Primary Ciliary Dyskinesia in children. All paediatric respiratory units in Austria received a questionnaire. Symptoms of PCD patients from Vienna Children's University Hospital (aim 3) were extracted from case histories. RESULTS: In 13 Austrian clinics 48 patients with PCD (36 aged from 0-19 years) were identified. The prevalence of reported cases (aged 0-19 yrs) in Austria was 1:48000. Median age at diagnosis was 4.8 years (IQR 0.3-8.2), lower in children with situs inversus compared to those without (3.1 vs. 8.1 yrs, p = 0.067). In 2005-2006, the saccharine test was still the most commonly used screening test for PCD in Austria (45%). Confirmation of the diagnosis was usually by electron microscopy (73%). All clinics treated exacerbations immediately with antibiotics, 73% prescribed airway clearance therapy routinely to all patients. Other therapies and diagnostic tests were applied very inconsistently across Austrian hospitals. All PCD patients from Vienna (n = 13) had increased upper and lower respiratory secretions, most had recurring airway infections (n = 12), bronchiectasis (n = 7) and bronchitis (n = 7). CONCLUSION: Diagnosis and therapy of PCD in Austria are inhomogeneous. Prospective studies are needed to learn more about the course of the disease and to evaluate benefits and harms of different treatment strategies.

Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutation

Monocarboxylate transporter 8 (MCT8 or SLC16A2) is important for the neuronal uptake of triiodothyronine (T3) in its function as a specific and active transporter of thyroid hormones across the cell membrane, thus being essential for human brain development. We report on a German male with Allan-Herndon-Dudley syndrome presenting with severe intellectual and motor disability, paroxysmal dyskinesia combined with truncal muscular hypotonia, and peripheral muscular hypertonia at his current age of 9 years. Additionally, the patient has a lesion in the left putamen region revealed by magnetic resonance imaging and elevated serum T3 levels. The male appeared to have a hemizygous mutation (R271H) in the MCT8 gene that was sequenced directly from genomic DNA and occurred de novo in the maternal germline, as both his mother and his sister were not carriers of the mutation. Ruling out a common polymorphism, 50 normal individuals of the same ethnic background did not harbour the mutation. The identified MCT8 gene mutation (R271H) is very likely to be the genetic cause for neuronal hypothyroidism despite elevated serum T3 levels.