Extra-cardiac manifestations of adult congenital heart disease.

Advancement in correction or palliation of congenital cardiac lesions has greatly improved the lifespan of congenital heart disease patients, resulting in a rapidly growing adult congenital heart disease (ACHD) population. As this group has increased in number and age, emerging science has highlighted the systemic nature of ACHD. Providers caring for these patients are tasked with long-term management of multiple neurologic, pulmonary, hepatic, renal, and endocrine manifestations that arise as syndromic associations with congenital heart defects or as sequelae of primary structural or hemodynamic abnormalities. In this review, we outline the current understanding and recent research into these extra-cardiac manifestations.

Étude sur le rôle des substances psychoactives en lien avec les manifestations de comportements violents chez les jeunes contrevenants de la région de Montréal

Mémoire numérisé par la Direction des bibliothèques de l'Université de Montréal.

Providence divine et diable trompeur : représentations des manifestations visionnaires chez les religieux et les religieuses en Nouvelle-France (de 1612 à 1724)

Mémoire numérisé par la Direction des bibliothèques de l'Université de Montréal.

Manifestations de la pensée critique chez des enseignantes et des enseignants d'éducation physique et à la santé : une étude de cas

Thèse numérisée par la Direction des bibliothèques de l'Université de Montréal.

The Efficacy of San Lazaro and His Manifestations: Divine Mediators of Health Within Miami's Cuban-American Santeria Community.

This study explored the origins, evolution and influence of the tradition of San Lázaro as it currently pertains to the Cuban-American Santeria community in Miami. The main argument of the study is that in the context of the contemporary religious culture of Santeria in Miami, San Lázaro is a hybrid spirit. Many manifestations of healing entities have come to merge in the person of this spirit. Though practitioners identify with specific manifestations of this spirit, the processes of transmigration have blurred the lines of deep-rooted faiths and created a fusion of meanings from disparate traditions, making San Lázaro an ambivalent personality. San Lázaro’s ambivalence is the very quality that makes him such an important Orisha. As a deity whose personalities demonstrates the combination of a diversity of qualities, including those that contradict each other, San Lázaro is deployed in a very broad range of healing context, making him a versatile Orisha. This study clarified the contrasting qualities this deity embodies and traces the socio-historical context in which the deity acquires the layers of meanings it is currently associated with. Drawing on interviews with Lázaranian worshipers [Lázarenos] in Miami and engaging in Bourdieu’s concept of Habitus, the study provided a window into the nature of the tradition of San Lázaro and how its usage is linked with the African heritage of the worshipers.

Sellar Spine Associated with Endocrine and Neuro-Ophthalmological Manifestations

A case of sellar spine, associated with neuro-ophthalmological and endocrine abnormalities, is reported. The case described is a rare malformation, of which the authors found only six cases in the literature.

Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11

Purpose Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is an autosomal dominant condition. Mutations in KIF11 have been found to be causative in approximately 75% of cases. This study describes the ocular phenotype in patients with confirmed KIF11 mutations. Methods Standard ophthalmic examination and investigation including visual acuity, refraction and fundus examination was carried out in all patients. Fundus autofluorescence imaging (FAF) was performed in three patients, and four patients underwent spectral domain optical coherence tomography (OCT). Flash electroretinography (ERG) was performed in seven patients, and five underwent additional pattern electroretinography (PERG). Results The patients ranged in age from 2 to 10 years. Most presented with visual acuity loss. Fundus examination revealed lacunae of chorioretinal atrophy. Pigmentary macular changes and optic disc pallor were present in three of seven patients. Fundus autofluorescence demonstrated hypoautofluorescence at the macula in two of three patients. The lacunae of chorioretinal atrophy were hypoautofluorescent. The OCT showed atrophic maculae in three of four patients. Follow-up in one patient showed no deterioration of the vision over a 9-year period. The lesions appear not to be progressive on the follow-up imaging. Electrophysiology showed generalized rod and cone dysfunction and severe macular dysfunction. Inner retinal dysfunction was evident in three of seven patients. Conclusions Patients with KIF11 mutations show a specific ocular phenotype with variable expressivity and intrafamilial variability. Macular atrophy and dysfunction have not been consistently documented before. The fundus lesions appear non-progressive. The findings assist in providing an accurate diagnosis and thus improving the management and follow-up of patients with this syndrome.

Clinical manifestations due to pharmacological interactions in pediatric ophthalmic surgery. Topical drugs and general anaesthesia

Introduction. The authors consider the type and the incidence of the adverse effects due to the interaction between ophthalmic drugs and general anaesthesia in pediatric ophthalmic surgery. Patients and Methods. The experience included 176 general anaesthesia in 100 children aged between 9,2 months and 11,4 years (mean age 4,9 years). Results. In the 100 patients we reported: 4 cases (2.7% general anaesthesias) of sinus tachycardia with heart rhythm varying between 170 and 180 beats per minute (3.6%); 5 cases of sinus bradycardia, varying between 60 and 70 beats per minute (3.3%); 3 cases of bronchospasm (2%); 2 cases of psychomotor agitation/disturbances in pre-convulsive state after anaesthesia (1.3%); 3 cases of arterial hypotension (60-70 mmHg) (2%); 7 cases of skin rush around neck and chest (4.6%); 1 case of prolonged apnoea (0.6%). Conclusions. The clinical manifestations, principally on the cardio-circulatory and nervous system are subjected to critical revision, to foresee the pharmacological interferences and therefore to prepare the necessary measure of medical treatment.

L’intégration, dans la communauté, des personnes présentant une déficience intellectuelle : étude des manifestations d'opposition ou d'appui du voisinage

La volonté d'intégrer, dans la communauté, les personnes présentant une déficience intellectuelle et de changer le mode de vie institutionnel par un mode de vie similaire à celui des autres citoyens, oriente depuis plusieurs années les services de réadaptation. Comme le souligne Kebbon (1987), ce désir d'intégrer les personnes présentant une déficience intellectuelle est largement issu du principe de la normalisation. D'abord formulé en Scandinavie par Nirje (1969) puis repris aux États-Unis par Wolfensberger (1972), ce principe statue qu'un effort constant doit être fait pour rendre normales les conditions de vie des personnes présentant une déficience intellectuelle. L'intégration est "une condition nécessaire à la normalisation et est habituellement le moyen d'y aboutir" (Kebbon, 1987; 69). Toutefois, selon plusieurs auteurs, le succès ou l'échec de l'intégration repose largement sur l'acceptation et l'appui du public (Eisenring et Pasche, 1981; lonescu, 1987; Kastner, Repucci et Pezzoli, 1979; Roth et Smith, 1983; Sandler et Robinson, 1981; Seltzer, 1984; Sternlicht, 1976). La connaissance des réactions des personnes qui vivent dans le voisinage d'une ressource d'hébergement pour personnes ayant une déficience intellectuelle s'avère donc essentielle afin de bien évaluer le processus d'intégration et d'offrir aux personnes déficientes une meilleure qualité de vie. Le mouvement de désinstitutionnalisation et d'intégration des personnes déficientes a été amorcé au Québec depuis une dizaine d'années. Or, on ne sait encore que peu de choses quant aux réactions de la population à cette intégration communautaire. Deux études québécoises (Coté, Ouellet et Lachance, 1990; lonescu et Despins, 1990) portant sur les attitudes envers l'intégration communautaire des personnes ayant une déficience intellectuelle apportent quelques renseignements. L'étude de lonescu et Despins réalisée auprès d'étudiants et d'étudiantes de niveau collégial et universitaire, montre que 85,5% des répondants sont favorables à l'intégration communautaire des personnes présentant une déficience intellectuelle. Celle de Côté et al. menée auprès du grand public, indique que les deux tiers des répondants ne seraient pas défavorables à la présence de ces personnes dans leur quartier. Toutefois, aucune étude québécoise réalisée auprès de personnes qui vivent directement en contact avec le phénomène de l'intégration des personnes présentant une déficience intellectuelle n'a été recensée. Comment réagissent les gens lorsqu'ils sont confrontés au phénomène de l'intégration? Acceptent-ils la présence des personnes ayant une déficience intellectuelle ou, au contraire, s'y opposent-ils? Comment manifestent-ils leur acceptation ou leur opposition? Voilà autant de questions auxquelles ce mémoire tentera de répondre.

Neuromorphic model for sound source segregation

While humans can easily segregate and track a speaker's voice in a loud noisy environment, most modern speech recognition systems still perform poorly in loud background noise. The computational principles behind auditory source segregation in humans is not yet fully understood. In this dissertation, we develop a computational model for source segregation inspired by auditory processing in the brain. To support the key principles behind the computational model, we conduct a series of electro-encephalography experiments using both simple tone-based stimuli and more natural speech stimulus. Most source segregation algorithms utilize some form of prior information about the target speaker or use more than one simultaneous recording of the noisy speech mixtures. Other methods develop models on the noise characteristics. Source segregation of simultaneous speech mixtures with a single microphone recording and no knowledge of the target speaker is still a challenge. Using the principle of temporal coherence, we develop a novel computational model that exploits the difference in the temporal evolution of features that belong to different sources to perform unsupervised monaural source segregation. While using no prior information about the target speaker, this method can gracefully incorporate knowledge about the target speaker to further enhance the segregation.Through a series of EEG experiments we collect neurological evidence to support the principle behind the model. Aside from its unusual structure and computational innovations, the proposed model provides testable hypotheses of the physiological mechanisms of the remarkable perceptual ability of humans to segregate acoustic sources, and of its psychophysical manifestations in navigating complex sensory environments. Results from EEG experiments provide further insights into the assumptions behind the model and provide motivation for future single unit studies that can provide more direct evidence for the principle of temporal coherence.

Hansen Neuropathy: Still a Possible Diagnosis in the Investigation of a Peripheral Neuropathy

INTRODUCTION: Leprosy is still one of the most frequent causes of peripheral neuropathy. Although regarded as eradicated in Portugal, is still documented in neuropathological study of patients with clinical peripheral neuropathy without proper diagnosis.

Granulomatosis with Polyangiitis (Wegener Granulomatosis) Mimicking Infective Endocarditis

Introduction Infective endocarditis (IE) has been reported to mimic granulomatosis with polyangiitis (GPA) and to test positive to antineutrophil cytoplasmic antibodies (ANCA), which may lead to a misdiagnosis and inappropriate treatment. Case presentation We report a case of a 59-year-old man admitted for purpura, gangrenous digital infarcts and glomerulonephritis. The diagnosis of IE was initially considered on the basis of heart murmur and two positive haemocultures to corynebacterium. Ineffectiveness of antimicrobial therapy and further neurological and nasal manifestations supported the diagnosis of GPA. Conclusions IE should be ruled out before initiation of immunosuppressive treatment. If the disease progresses despite antimicrobial treatment, vascular diseases should be rapidly taken into account in differential diagnosis and treated early to avoid fatal complications.

The revolving door of mental, neurological, and substance use disorders re-hospitalization in rural KwaZulu-Natal Province, South Africa.

Objective: Little is known about the extent of mental, neurological and substance-use (MNS) disorders re-hospitalization in South Africa. We examined the extent of one-year MNS re-hospitalization (MNS-R) in a rural South African primary health care facility (PHCF). Methods: We conducted a retrospective analysis of hospital administrative data from 10,525 adults discharged from a rural PHCF in KwaZulu-Natal Province, South Africa. Chi-squared tests were utilized to describe MNS-R within one year of an index hospital admission in individuals with MNS, with a sub-analysis also being conducted to describe schizophrenia re-hospitalization (S-R). Results: The prevalence of MNS and schizophrenia recorded at an index hospitalization was 5% and 1%, respectively. A total of 44/67 (66%) individuals with a diagnosis of MNS at the index hospitalization were classified as having MNS-R during oneyear follow-up period. Half of those diagnosed with schizophrenia at the index hospitalization (6/12 patients) were classified as having S-R during one-year follow-up period. There was a significant association between re-hospitalization outcomes (MNS-R and S-R) and MNS (p<0.01) or schizophrenia diagnosis (p<0.01) at index baseline hospitalization. Conclusion: The extent of MNS-R and S-R remains relatively high in rural South Africa, and needs further health systems strengthening to prevent revolving door occurrences.