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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.

Feasibility and clinical outcomes when using practice guidelines for evaluation of fever in returning travelers and migrants : a validation study.

BACKGROUND: Practice guidelines for examining febrile patients presenting upon returning from the tropics were developed to assist primary care physicians in decision making. Because of the low level of evidence available in this field, there was a need to validate them and assess their feasibility in the context they have been designed for. OBJECTIVES: The objectives of the study were to (1) evaluate physicians' adherence to recommendations; (2) investigate reasons for non-adherence; and (3) ensure good clinical outcome of patients, the ultimate goal being to improve the quality of the guidelines, in particular to tailor them for the needs of the target audience and population. METHODS: Physicians consulting the guidelines on the Internet (www.fevertravel.ch) were invited to participate in the study. Navigation through the decision chart was automatically recorded, including diagnostic tests performed, initial and final diagnoses, and clinical outcomes. The reasons for non-adherence were investigated and qualitative feedback was collected. RESULTS: A total of 539 physician/patient pairs were included in this study. Full adherence to guidelines was observed in 29% of the cases. Figure-specific adherence rate was 54.8%. The main reasons for non-adherence were as follows: no repetition of malaria tests (111/352) and no presumptive antibiotic treatment for febrile diarrhea (64/153) or abdominal pain without leukocytosis (46/101). Overall, 20% of diversions from guidelines were considered reasonable because there was an alternative presumptive diagnosis or the symptoms were mild, which means that the corrected adherence rate per case was 40.6% and corrected adherence per figure was 61.7%. No death was recorded and all complications could be attributed to the underlying illness rather than to adherence to guidelines. CONCLUSIONS: These guidelines proved to be feasible, useful, and leading to good clinical outcomes. Almost one third of physicians strictly adhered to the guidelines. Other physicians used the guidelines not to forget specific diagnoses but finally diverged from the proposed attitudes. These diversions should be scrutinized for further refinement of the guidelines to better fit to physician and patient needs.

Influence of a lifestyle intervention in preschool children on physiological and psychological parameters (Ballabeina): study design of a cluster randomized controlled trial.

Childhood obesity and physical inactivity are increasing dramatically worldwide. Children of low socioeconomic status and/or children of migrant background are especially at risk. In general, the overall effectiveness of school-based programs on health-related outcomes has been disappointing. A special gap exists for younger children and in high risk groups. This paper describes the rationale, design, curriculum, and evaluation of a multicenter preschool randomized intervention study conducted in areas with a high migrant population in two out of 26 Swiss cantons. Twenty preschool classes in the German (canton St. Gallen) and another 20 in the French (canton Vaud) part of Switzerland were separately selected and randomized to an intervention and a control arm by the use of opaque envelopes. The multidisciplinary lifestyle intervention aimed to increase physical activity and sleep duration, to reinforce healthy nutrition and eating behaviour, and to reduce media use. According to the ecological model, it included children, their parents and the teachers. The regular teachers performed the majority of the intervention and were supported by a local health promoter. The intervention included physical activity lessons, adaptation of the built infrastructure; promotion of regional extracurricular physical activity; playful lessons about nutrition, media use and sleep, funny homework cards and information materials for teachers and parents. It lasted one school year. Baseline and post-intervention evaluations were performed in both arms. Primary outcome measures included BMI and aerobic fitness (20 m shuttle run test). Secondary outcomes included total (skinfolds, bioelectrical impedance) and central (waist circumference) body fat, motor abilities (obstacle course, static and dynamic balance), physical activity and sleep duration (accelerometry and questionnaires), nutritional behaviour and food intake, media use, quality of life and signs of hyperactivity (questionnaires), attention and spatial working memory ability (two validated tests). Researchers were blinded to group allocation. The purpose of this paper is to outline the design of a school-based multicenter cluster randomized, controlled trial aiming to reduce body mass index and to increase aerobic fitness in preschool children in culturally different parts of Switzerland with a high migrant population. Trial Registration: (clinicaltrials.gov) NCT00674544.

Exploring the potential of early identification and intervention within a college of applied arts

This study probed for an answer to the question, "How do you identify as early as possible those students who are at risk of failing or dropping out of college so that intervention can take place?" by field testing two diagnostic instruments with a group of first semester Seneca College Computer Studies students. In some respects, the research approach was such as might be taken in a pilot study. Because of the complexity of the issue, this study did not attempt to go beyond discovery, understanding and description. Although some inferences may be drawn from the results of the study, no attempt was made to establish any causal relationship between or among the factors or variables represented here. Both quantitative and qualitative data were gathered during. four resea~ch phases: background, early identification, intervention, and evaluation. To gain a better understanding of the problem of student attrition within the School of Computer Studies at Seneca College, several methods were used, including retrospective analysis of enrollment statistics, faculty and student interviews and questionnaires, and tracking of the sample population. The significance of the problem was confirmed by the results of this study. The findings further confirmed the importance of the role of faculty in student retention and support the need to improve the quality of teacher/student interaction. As well, the need __f or ~~ills as~e:ss_~ent foll,,-~ed }JY supportiv e_c_ounsell~_I'l9_ ~~d_ __ placement was supported by the findings from this study. strategies for reducing student attrition were identified by faculty and students. As part of this study, a project referred to as "A Student Alert project" (ASAP) was undertaken at the School of Computer Studies at Seneca College. Two commercial diagnostic instruments, the Noel/Levitz College Student Inventory (CSI) and the Learning and Study Strategies Inventory (LASSI), provided quantitative data which were subsequently analyzed in Phase 4 in order to assess their usefulness as early identification tools. The findings show some support for using these instruments in a two-stage approach to early identification and intervention: the CSI as an early identification instrument and the LASSI as a counselling tool for those students who have been identified as being at risk. The findings from the preliminary attempts at intervention confirmed the need for a structured student advisement program where faculty are selected, trained, and recognized for their advisor role. Based on the finding that very few students acted on the diagnostic results and recommendations, the need for institutional intervention by way of intrusive measures was confirmed.

Management decision-making in nursing

This study developed a new, valid and reliable evaluation instrument to measure the level, type and pattern of management decisions of fifteen nursing students. The management decision score achieved using this instrument was correlated with two psychological determinants of management decision making: creativity and problem-solving ability. The instrument was a written patient management problem in case format, answered by a free form written response. The student responses were classified for type of management decision according to the sub-categories of technical, inter-personal, environmental and unique. Using statistical analysis a significant difference was found in the type of management decisions most frequently selected by the study sample. The students predominantly selected technical type decisions. This preference for one type of management decision may be due to a number of psychological and environmental factors. These factors may program and mold the type of management decisions student nurses make early in their career. Low but positive correlations were found between the total management score and the two psychological tests. This finding supports the authors cited in the literature who state that although creativity augments the type of management decision making, it is not present or encouraged widely in the nursing profession. These factors are worth considering when the profession becomes concerned over ritualization and lack of individuality in patient care. The tool is easy to administer, lends itself to a variety of professional settings and shows promise with further refinement for computer application.

Exploring the potential of early identification and intervention within a college of applied arts

This study probed for an answer to the question, "How do you identify as early as possible those students who are at risk of failing or dropping out of college so that intervention can take place?" by field testing two diagnostic instruments with a group of first semester Seneca College Computer ,Studies students. In some respects, the research approach was such as might be taken in a pilot study_ Because of the complexity of the issue, this study did not attempt to go beyond discovery, understanding and description. Although some inferences may be drawn from the results of the study, no attempt was made to establish any causal relationship between or among the factors or variables represented here. Both quantitative and qualitative data were gathered during four resea~ch phases: background, early identification, intervention, and evaluation. To gain a better understanding of the problem of student attrition within the School of Computer Studies at Seneca College, several methods were used, including retrospective analysis of enrollment statistics, faculty and student interviews and questionnaires, and tracking of the sample population. The significance of the problem was confirmed by the results of this study. The findings further confirmed the importance of the role of faculty in student retention and support the need to improve the quality of teacher/student interaction. As well, the need for skills assessmen~-followed by supportive counselling, and placement was supported by the findings from this study. strategies for reducing student attrition were identified by faculty and students. As part of this study, a project referred to as "A Student Alert Project" (ASAP) was undertaken at the School of Computer Studies at Seneca college. Two commercial diagnostic instruments, the Noel/Levitz College Student Inventory (CSI) and the Learning and Study Strategies Inventory (LASSI), provided quantitative data which were subsequently analyzed in Phase 4 in order to assess their usefulness as early identification tools. The findings show some support for using these instruments in a two-stage approach to early identification and intervention: the CSI as an early identification instrument and the LASSI as a counselling tool for those students who have been identified as being at risk. The findings from the preliminary attempts at intervention confirmed the need for a structured student advisement program where faculty are selected, trained, and recognized for their advisor role. Based on the finding that very few students acted on the diagnostic results and recommendations, the need for institutional intervention by way of intrusive measures was confirmed.

Biotechnologies et brevets : le cas de la pharmacogénomique

"Mémoire présenté à la Faculté des études supérieures en vue de l'obtention du grade de Maîtrise en droit (LL.M.) Option droit, Biotechnologies et société"

Comparaison de deux nouvelles méthodes d’évaluation de la fertilité masculine avec le spermogramme chez des patients ayant recours à la fécondation in vitro

Des facteurs masculins sont identifiés dans près de la moitié des cas d’infertilité. À ce jour, les tests évaluant la fertilité masculine demeurent peu prédictifs de la survenue d’une grossesse. Dans le but de pallier cette lacune, nous avons mis au point deux nouveaux tests mesurant l’intégrité de l’ADN et le temps de survie des spermatozoïdes. Nous avons effectué une étude prospective portant sur 42 couples infertiles suivis en fécondation in vitro (FIV). Le spermogramme a été effectué selon les critères de l’Organisation Mondiale de la Santé (OMS) et le temps de survie des spermatozoïdes exposés à un détergent cationique a été mesuré en observant la mobilité sous microscope. L’intégrité de l’ADN des spermatozoïdes a été vérifiée par la nouvelle méthode de marquage radioenzymatique et par analyse de la structure de la chromatine (SCSA). Tous les tests ont été réalisés sur la partie des échantillons de sperme non utilisée par la clinique de fertilité. Le projet a été approuvé par le comité d’éthique du Centre Hospitalier Universitaire de Montréal (CHUM) et les patients ont préalablement signé un formulaire de consentement éclairé. L’analyse des paramètres du spermogramme et de l’intégrité de l’ADN n’a montré aucune différence statistiquement significative entre les données chez les couples avec ou sans grossesse. Cependant, le taux de grossesse biochimique était statistiquement plus élevé chez les couples dont le temps de survie des spermatozoïdes était long (>250 s) comparativement à ceux dont ce temps était court (≤250 s): 66% vs 27% respectivement (p<0,05). Les taux de grossesse clinique et d’implantation étaient aussi plus élevés, mais les différences n’atteignaient pas le seuil de signification statistique. Nos résultats confirment que le spermogramme et la mesure de la fragmentation de l’ADN des spermatozoïdes ne sont pas de bons facteurs prédictifs des résultats de la FIV. Par contre, le test de survie des spermatozoïdes serait un meilleur indicateur de la possibilité d’une grossesse en FIV. L’amélioration de sa spécificité et un plus grand nombre de sujets sont nécessaires avant de proposer son application en clinique de fertilité.

Transmission de Mycobacterium avium ssp. paratuberculosis dans les troupeaux de bovins laitiers et dépistage de l’infection par la culture de l’environnement au Québec

Mycobacterium avium subsp. paratuberculosis (MAP) cause la maladie de Johne, une maladie chronique et incurable affectant les ruminants partout dans le monde. Plusieurs pays ont mis en place des programmes de contrôle afin de prévenir la transmission entre et au sein des troupeaux. Afin d’arriver à prévenir et contrôler cette maladie, une bonne compréhension des facteurs de risque impliqués dans la transmission est essentielle. Des tests diagnostiques performants et à coût abordable sont aussi nécessaires afin de détecter la présence du MAP et/ou les animaux infectés. L’objectif de la première étude était de réviser systématiquement la littérature scientifique concernant les facteurs de risque associés à la transmission du MAP aux génisses laitières. La présence d’une association significative entre les facteurs de risque concernant l’environnement néonatal, le colostrum, le lait, le logement des veaux et le contact des veaux avec le fumier de vaches adultes et la transmission du MAP a été compilée de 23 articles. Le contact des veaux avec le fumier de vaches adultes est le facteur de risque le plus important dans la transmission du MAP. L’objectif de la seconde étude était d’évaluer la relation entre le nombre d’échantillons de l’environnement positifs pour le MAP et la prévalence individuelle d’excrétion fécale dans les troupeaux laitiers entravés du Québec. Le nombre de cultures positives d’échantillons de l’environnement s’est avéré associé à la prévalence individuelle d’excrétion fécale du MAP. Une association significative a été trouvée entre la présence d’une forte charge bactérienne dans un échantillon de fumier individuel et la détection du MAP dans l’environnement.

Étude des tachykinines et de leurs dérivés peptidiques associés à la douleur neuropathique grâce à l’utilisation de modèles animaux et de la chromatographie en phase liquide couplée à la spectrométrie de masse

Thèse réalisée en co-tutelle avec l'Université Claude Bernard de Lyon 1, en France.

L'évaluation systématique de la lombalgie selon les données probantes.

Les illustrations accompagnant le texte ont été dessinées par monsieur Mathieu Gagnon.

Evaluación de la pertinencia en la solicitud del electroencefalograma en la Fundación Cardio Infantil IC

Introducción: En este estudio se realiza un análisis sobre la pertinencia en la solicitud del electroencefalograma (EEG), por parte de las diferentes especialidades médicas en la Fundación Cardio-Infantil-IC. Objetivos: Determinar la pertinencia de la solicitud de electroencefalogramas en la Fundación Cardio-Infantil IC, en el período de tiempo comprendido entre enero de 2008 a septiembre de 2008. Cuantificar que cantidad de médicos se adhiere a las guías basadas en la evidencia para la solicitud del electroencefalograma Metodología: Estudio retrospectivo, descriptivo de corte transversal, toma como muestra los electroencefalogramas realizados en el período comprendido entre enero de 2008 a septiembre de 2008, en la Fundación Cardio Infantil- IC. Se analizaron 1211 electroencefalogramas. Resultados: Se encontró que la pertinencia en la solicitud de electroencefalogramas es mayor en el servicio de neurología, con un 95.2%, seguido de las especialidades médicas con una pertinencia del 90.5%, neuropediatría 90.2%, especialidades quirúrgicas 77.2% y medicina general con un 55.4% de solicitudes pertinentes. Discusión: El uso racional de las pruebas diagnósticas es un tema bien documentado en la literatura, con este estudio se observó que la solicitud de EEG en la institución tiene un sustento apropiado, siguiendo las indicaciones de las guías médicas basadas en la evidencia; Sin embargo, es necesario continuar con la realización de estudios y estrategias que garanticen una formación continúa de los diferentes profesionales, para mejorar la adherencia a las recomendaciones de la literatura no sólo para la solicitud de electroencefalogramas, sino también de otras pruebas diagnósticas, garantizando una atención más segura, pertinente y costo efectiva.

Diagnóstico de apendicitis aguda en la edad pedíatrica en la Fundación Cardio Infantil : utilidad de la ultrasonografía

Los niños que presentan dolor abdominal agudo representan una de las principales demandas de atención en los servicios de Urgencias Pediátricas, convirtiéndose en un reto para quien realiza la valoración inicial la decisión de que paciente amerita realizar estudios adicionales, para descartar una patología quirúrgica. Considerando que la apendicitis es la primera emergencia quirúrgica en niños, y que sus complicaciones son un problema frecuente, es imprescindible que el clínico conozca cual es la utilidad y beneficio que le brindan las herramientas diagnósticas disponibles para realizar un diagnóstico más certero. Objetivo: Describir el manejo de los pacientes menores de 18 años con sospecha de apendicitis en la FCI y determinar la sensibilidad y especificidad de la ecografía en esta población. Métodos: Estudio de Prueba Diagnóstica. Revisión expedita de los niños valorados en la FCI con sospecha clínica de apendicitis aguda durante un periodo de 4 meses. Se tomaron datos de hallazgos ecográficos para apendicitis (positivos, negativos o indeterminados) y del desenlace de tener o no apendicitis. Posteriormente se realizó una inferencia mediante una tabla de contingencia, teniendo en cuenta intervalos de confianza para determinar la sensibilidad, especificidad, VPP, VPN y exactitud de la prueba basados en el diagnóstico final. Resultados: En 52% de pacientes que consultaron por dolor abdominal se sospecho patología quirúrgica, grupo en el que se utilizó la ecografía abdominal como herramienta diagnóstica para descartar apendicitis encontrando: sensibilidad: 63%(IC 95%, 48.6-75.5), especificidad: 82,7%(IC 95%, 76- 87.8) y exactitud: 78,2%(IC 95%, 72-83,4). La prevalencia de la enfermedad fue 22,8%, con probabilidad postprueba positiva de 88.3%(IC 95%, 82,1-92.6). Conclusiones: Los resultados de este estudio evidencian un menor rendimiento de la ecografía como prueba diagnóstica para apendicitis en pediatría en nuestro medio comparado al descrito en la literatura. Dicha discordancia probablemente se encuentra determinada por los sesgos propios de un estudio histórico como este, en el que básicamente la falta de uniformidad en el registro de datos en la historia clínica por los observadores (clínicos y radiólogos), así como las limitaciones para determinar el seguimiento de todos los pacientes que no fueron operados, pueden alterar la capacidad operativa real de la prueba. De ahí la importancia de realizar a futuro un estudio concurrente.

Valor diagnóstico de la clínica en trauma penetrante de cuello

La evaluación del trauma penetrante de cuello es un tema controversia. Algunas instituciones continúan manejando en forma agresiva el trauma de cuello, llevando a exploración quirúrgica a todo paciente. La selección de los métodos diagnostico más apropiado es un problema polémico. La tendencia actual en la literatura está dirigida hacia la racionalización del uso de los métodos de diagnóstico, indicándolos selectivamente de acuerdo con los hallazgos clínicos al ingreso. Objetivo: determinar el valor de signos blandos al ingreso de los pacientes con trauma penetrante de cuello para definir la necesidad de realizar estudios de diagnóstico adicionales. Métodos: es un estudio observacional de prueba diagnóstica en Hospital Occidente de Kennedy, durante los meses de agosto de 2009 hasta junio de 2010. Se incluyeron 207 pacientes con herida penetrante de cuello. A todos se les realizo una exploración física enfocándose en los signos blandos de lesión vascular, vía aérea y tracto gastrointestinal superior. Se analizaron la sensibilidad, especificidad, valor predictivo positivo y negativo de los signos blandos. Resultados: los signos blandos de lesión vascular tienen una sensibilidad de 95.65%, especificidad 47.83%, VPP de 18.64 %; VPN de 98.88%. Los signos blandos de lesión de vía aérea tienen una sensibilidad 94.12%, especificidad 91.05%, VVP 48.48%; VPN 99.43%. Conclusiones: los pacientes asintomáticos no requieren de otras pruebas diagnosticas para excluir lesiones que ameriten reparo quirúrgico, siendo el seguimiento clínico la conducta apropiada a seguir.

Concordancia entre laboratorios serológicos y ultrasonografía hepatobiliar como pruebas diagnósticas en coledocolitiasis

La coledocolitiasis es una patología que requiere una aproximación adecuada para determinar su manejo dadas las posibles complicaciones por omisión en su diagnostico o la realización de procedimientos terapéuticos. La colangiopancreatografía retrógrada endoscópica (CPRE) es una opción en su manejo, pero es un procedimiento invasivo con riesgos de morbilidad y mortalidad considerables. El objetivo del estudio es determinar la correlación existente entre los resultados de pruebas serológicas, el diámetro hallado de la vía biliar por ecografía, así como el diagnostico radiológico de coledocolitiasis y las CPRE realizadas en el Hospital Universitario de la Samaritana (HUS) entre el 01/05/2009 y 31/08/2010. Materiales y Método: Estudio de concordancia de pruebas diagnósticas. Donde a través de la recolección de la información a través de un cuestionario sobre identificación de pacientes con diagnóstico presuntivo de coledocolitiasis, resultados serológicos, hallazgos ecográficos de la vía biliar y el reporte de CPRE se realizo un análisis descriptivo de la población, se calcularon los valores de sensibilidad, especificidad y cocientes de probabilidades, además de determinar el grado de concordancia entre las pruebas utilizando los paquetes estadísticos Stata v. 11 (StataCorp; Tx, USA) y SPSS v. 18 (SPSS Inc.; Ill, USA) Dada la evidencia actual ningún indicador utilizado de forma única (historia clínica, ecografía, marcadores serológicos) es capaz de determinar el diagnostico de coledocolitiasis con suficiente precisión, sin embargo en pacientes mayores cuya clínica sugiere patología biliar obstructiva, existen algunos puntos de corte que hacen parte de algoritmos en la literatura, los cuales son una guía para determinar la necesidad de CPRE y se pueden utilizar en nuestra institución