The prevalence of alpha-1 antitrypsin deficiency in Ireland

Background: Alpha-1 antitrypsin deficiency (AATD) results from mutations in the SERPINA1 gene and classically presents with early-onset emphysema and liver disease. The most common mutation presenting with clinical evidence is the Z mutation, while the S mutation is associated with a milder plasma deficiency. AATD is an under-diagnosed condition and the World Health Organisation recommends targeted detection programmes for AATD in patients with chronic obstructive pulmonary disease (COPD), non-responsive asthma, cryptogenic liver disease and first degree relatives of known AATD patients.

Familial hypocalciuric hypercalcaemia as a differential diagnosis of hyperparathyroidism:studies in a large kindred and a review of surgical experience in the condition

We have studied 46 members of a large kindred with familial hypocalciuric hypercalcaemia (FHH) after a neck exploration failed to cure hypercalcaemia in an asymptomatic patient. Serum calcium, serum phosphate, plasma parathormone and vitamin D metabolites do not distinguish affected members from patients with hyperparathyroidism. Because of the continuing debate as to whether or not FHH is a variant of, or distinct from, hyperparathyroidism, we have carried out a review of surgical experience with subtotal parathyroidectomy in hyperparathyroidism secondary to parathyroid hyperplasia and in FHH. Whereas the procedure is successful in 90 per cent of the former cases only one case of FHH has been cured by it. This provides evidence for the two conditions being aetiologically distinct. Before patients with asymptomatic hypercalcaemia are referred for parathyroid surgery the calcium:creatinine clearance ratio should be measured using a 2 h urine sample collected after an overnight fast and a fasting blood sample. If this ratio is less than 0.01 then screening of first degree relations should be undertaken before any parathyroid surgery is performed. Unnecessary surgery can therefore be avoided.

Irish study on high-density schizophrenia families:field methods and power to detect linkage

Large samples of multiplex pedigrees will probably be needed to detect susceptibility loci for schizophrenia by linkage analysis. Standardized ascertainment of such pedigrees from culturally and ethnically homogeneous populations may improve the probability of detection and replication of linkage. The Irish Study of High-Density Schizophrenia Families (ISHDSF) was formed from standardized ascertainment of multiplex schizophrenia families in 39 psychiatric facilities covering over 90% of the population in Ireland and Northern Ireland. We here describe a phenotypic sample and a subset thereof, the linkage sample. Individuals were included in the phenotypic sample if adequate diagnostic information, based on personal interview and/or hospital record, was available. Only individuals with available DNA were included in the linkage sample. Inclusion of a pedigree into the phenotypic sample required at least two first, second, or third degree relatives with non-affective psychosis (NAP), one whom had schizophrenia (S) or poor-outcome schizo-affective disorder (PO-SAD). Entry into the linkage sample required DNA samples on at least two individuals with NAP, of whom at least one had S or PO-SAD. Affection was defined by narrow, intermediate, and broad criteria. The phenotypic sample contained 277 pedigrees and 1,770 individuals and the linkage sample 265 pedigrees and 1,408 individuals. Using the intermediate definition of affection, the phenotypic sample contained 837 affected individuals and 526 affected sibling pairs. Parallel figures for the linkage sample were 700 and 420. Individuals with schizophrenia from these multiplex pedigrees resembled epidemiologically sampled cases with respect to age at onset, gender distribution, and most clinical symptoms, although they were more thought-disordered and had a poorer outcome. Power analyses based on the model of linkage heterogeneity indicated that the ISHDSF should be able to detect a major locus that influences susceptibility to schizophrenia in as few as 20% of families. Compared to first-degree relatives of epidemiologically sampled schizophrenic probands, first-degree relatives of schizophrenic members from the ISHDSF had a similar risk for schizotypal personality disorder, affective illness, alcoholism, and anxiety disorder. With sufficient resources, large-scale ascertainment of multiplex schizophrenia pedigrees is feasible, especially in countries with catchmented psychiatric care and stable populations. Although somewhat more severely ill, schizophrenic members of such pedigrees appear to clinically resemble typical schizophrenic patients. Our ascertainment process for multiplex schizophrenia families did not select for excess familial risk for affective illness or alcoholism. With its large sample ascertained in a standardized manner from a relatively homogeneous population, the ISHDSF provides considerable power to detect susceptibility loci for schizophrenia.

Issues in the epidemiology and population-based screening of primary angle-closure glaucoma

Among Caucasians, it is well known that 75-95% of primary glaucoma is due to open-angle glaucoma (POAG), with angle-closure (PACG) comprising only a very small minority of cases. These figures are reversed among other groups such as Asians and Eskimos, where PACG makes up 80-90% of primary glaucoma. Among Eskimos, the prevalence of PACG has been reported as 2-8%, as compared to 0.1% among Caucasians. It appears that a population tendency toward shallow anterior chambers may explain the excess burden of PACG morbidity. Among Asians, the prevalence of PACG is intermediate between Caucasians and Eskimos. Existing biometrical data do not show a clear tendency toward shallower anterior chambers among Asians. PACG may be screened for on a population basis by means of various techniques that estimate axial or limbal anterior chamber depth, measure intraocular pressure, or evaluate the optic disc or visual fields. Demographic information and medical and family history will also be of great importance in screening for PACG in large populations. Groups at increased risk for the disease include women, individuals over 50, first-degree relatives of PACG probands, and hyperopes.

Equações de 1.º grau : estratégias e erros na resolução e simplificação de equações de 1.º grau

Relatório da prática de ensino supervisionada, Mestrado em Ensino da Matemática, Universidade de Lisboa, 2011

Representações em situações problemáticas que envolvem inequações do 1.º grau a uma incógnita : um estudo com alunos do 9.º ano de escolaridade

Relatório da Prática de Ensino Supervisionada, Ensino da Matemática, Universidade de Lisboa, 2013

Danny e o profundo mar azul: introdução da técnica da Meisner em Portugal pela Below de Belt Teatro Co.: relatório de estágio

Relatório de Estágio submetidoà Escola Superior de Teatro e Cinemapara cumprimento dos requisitos necessários à obtenção do grau de Mestre em Artes Performativas- especialização em Teatro-Música

Impaired early visual response modulations to spatial information in chronic schizophrenia.

Early visual processing stages have been demonstrated to be impaired in schizophrenia patients and their first-degree relatives. The amplitude and topography of the P1 component of the visual evoked potential (VEP) are both affected; the latter of which indicates alterations in active brain networks between populations. At least two issues remain unresolved. First, the specificity of this deficit (and suitability as an endophenotype) has yet to be established, with evidence for impaired P1 responses in other clinical populations. Second, it remains unknown whether schizophrenia patients exhibit intact functional modulation of the P1 VEP component; an aspect that may assist in distinguishing effects specific to schizophrenia. We applied electrical neuroimaging analyses to VEPs from chronic schizophrenia patients and healthy controls in response to variation in the parafoveal spatial extent of stimuli. Healthy controls demonstrated robust modulation of the VEP strength and topography as a function of the spatial extent of stimuli during the P1 component. By contrast, no such modulations were evident at early latencies in the responses from patients with schizophrenia. Source estimations localized these deficits to the left precuneus and medial inferior parietal cortex. These findings provide insights on potential underlying low-level impairments in schizophrenia.

John W. Fisher Fonds, 1937-1961, 1964-1989, 1993, n.d.

Norah and Fred Fisher welcomed John Fisher into the world on November 29, 1912, not knowing what an influential role he would play in shaping Canada's history. John Fisher grew up as the middle child of five brothers and sisters in Frosty Hollow, New Brunswick, close to today’s town of Sackville. Sackville’s main industry was the Enterprise Foundry which the Fisher family owned and operated; however, Fisher had no plans of going into the family business. He was more inspired by his maternal grandfather, Dr. Cecil Wiggins, who lived with the family after retiring from the Anglican ministry. Wiggins encouraged all his grandchildren to be well read and to take part in discussions on current events. There were often visitors in the Fisher household taking part in discussions about politics, religion, and daily life. Fisher forced himself to take part in these conversations to help overcome his shyness in social settings. These conversations did help with his shyness and also in forming many opinions and observations about Canada. It put Fisher on the road to becoming Mr. Canada and delivering the many eloquent speeches for which he was known. Fisher did not venture far from home to complete his first degree. In 1934 he graduated from Mount Allison University in Sackville, NB with an Arts degree. The same year Fisher enrolled in Dalhousie’s law school. During his time at Dalhousie, Fisher discovered radio through Hugh Mills. Mills or “Uncle Mel” was on CHNS, Halifax’s only radio station at the time. Fisher began by making appearences on the radio drama show. By 1941 he had begun writing and broadcasting his own works and joined the staff as an announcer and continuity writer. In 1936 the Canadian Broadcasting Corporation was formed, the first National radio station. Fisher joined the CBC shortly after it’s beginning and remained with them, as well as the Halifax Herald newspaper, even after his law school graduation in 1937. By 1943 Fisher’s talks became a part of the CBC’s programming for a group of maritime radio stations. Fisher once described his talks as follows “my talks weren’t meant to be objective. . . they were meant to be favourable. They were ‘pride builders’” He began his famed John Fisher Reports at CBC Toronto when he transfered there shortly after the war. This program brought emmence pride to the fellow Canadians he spoke about leading to approximately 3500 requests per year to speak at banquets and meeting throughout Canada and the United States. Fisher was a well travelled indivdual who would draw on personal experiences to connect with his audience. His stories were told in simple, straight forward language for anyone to enjoy. He became a smooth, dynamic and passionate speaker who sold Canada to Canadians. He became a renowned journalist, folk historian, writer and broadcaster. Fisher was able to reach a vast array of people through his radio work and build Canadian pride, but he did not stop there. Other ways Fisher has contributed to Canada and the Canadian people include: Honoured by five Canadian Universities. 1956, became the Director of the Canadian Tourist Association. 1961, was appointed Special Assistant to the Prime Minister of Canada. 1963, Commissioner of the Centennial Commission (the Federal Agency Responsible for Canada’s 100th birthday) 1968, received the Service Medal , a coveted Order of Canada. President of John Fisher Enterprises Ltd., private consultant work, specializing in Centennial planning, broadcasts, lectures and promotion. John Fisher continued recording radio broadcasts even after his diagnosis with cancer. He would record 3 or 4 at a time so he was free to travel across Canada, the U.S., Europe and Mexico in search of treatments. Fisher passed away from the disease on February 15, 1981 and he is buried at Mount Pleasant Cemetery in Toronto.

The prevalence of congenital amusia

L’amusie congénitale est un trouble neurogénétique qui se caractérise par une inhabileté à acquérir des habiletés musicales de base, telles que la perception musicale et la reconnaissance musicale normales, malgré une audition, un développement du langage et une intelligence normaux (Ayotte, Peretz & Hyde, 2002). Récemment, une éude d’aggrégation familiale a démontré que 39% des membres de familles d’individus amusiques démontrent le trouble, comparativement à 3% des membres de familles d’individus normaux (Peretz et al., 2007). Cette conclusion est intéressante puisqu’elle démontre une prévalence de l’amusie congénitale dans la population normale. Kalmus et Fry (1980) ont évalué cette prévalence à 4%, en utilisant le Distorted Tunes Test (DTT). Par contre, ce test présente certaines lacunes méthodologiques et statistiques, telles un effet plafond important, ainsi que l’usage de mélodies folkloriques, désavantageant les amusiques puisque ceux-ci ne peuvent pas assimiler ces mélodies correctement. L’étude présente visait à réévaluer la prévalence de l’amusie congénitale en utilisant un test en ligne récemment validé par Peretz et ses collègues (2008). Mille cent participants, d’un échantillon homogène, ont complété le test en ligne. Les résultats démontrent une prévalence globale de 11.6%, ainsi que quatre profiles de performance distincts: pitch deafness (1.5%), pitch memory amusia (3.2%), pitch perception amusia (3.3%), et beat deafness (3.3%). La variabilité des résultats obtenus avec le test en ligne démontre l’existence de quatre types d’amusies avec chacune une prévalence individuelle, indiquant une hétérogénéité dans l’expression de l’amusie congénitale qui devra être explorée ultérieurement.

De la télé-oralité à la télé-visualité : évolution de la fiction télévisuelle québécoise du téléroman à la sérietélé (1953-2012)

La thèse comporte deux parties. Dans la première, constatant, d’une part, que les publications de référence à l’égard de la fiction télévisuelle québécoise sont rares, et que, d’autre part, les études télévisuelles souffrent d’un manque à penser l’esthétique de la fiction, elle avance une approche nouvelle. La fiction télévisuelle est l’objet d’une évolution esthétique portée par ses deux dispositifs et scandée en trois degrés d’expression. Elle évolue d’un dispositif où le son prévaut dans le cadre de la télé-audition à un autre dispositif où l’image prédomine au sein de la télé-vision. La fiction télévisuelle réalise ce parcours en trois degrés d’expression: du degré zéro, la monstration de la parole, nommé la télé-oralité, au second degré, l’image énonciative, nommé la télé-visualité, en passant par le premier degré, une oscillation transitoire, nommé la télé-dualité. Elle remédiatise le trajet du cinéma de fiction des premiers temps à l’auteurielité, un demi-siècle plus tard. Dans la seconde partie, la thèse applique le modèle théorique au corpus téléromanesque. Elle démontre que la fiction télévisuelle québécoise connait une évolution du téléroman à la sérietélé, en passant par la télésérie et par une trilogie épistémique. Au terme du parcours réflexif, une conclusion s’impose: le téléromanesque actuel participe de plain-pied à ce qui semble être, depuis le nouveau millénaire, l’Age d’art de la fiction télévisuelle.

Prevalencia y factores asociados a la no adherencia al tratamiento farmacológico con antipsicóticos en pacientes adultos con esquizofrenia

Objetivo: Determinar la prevalencia y los factores asociados a la no adherencia al tratamiento farmacológico con antipsicóticos en pacientes adultos con esquizofrenia. Métodos: Estudio de corte transversal de 184 pacientes en la Clínica La Paz, en Bogotá entre el período de 2008 – 2009. Se hizo recolección y verificación de la información con la aplicación de un cuestionario que evaluó factores relacionados con la no adherencia terapéutica. Resultados: La prevalencia de no adherencia fue del 51.2%. Las variables con asociación estadísticamente significativa a la no adherencia al tratamiento farmacológico fueron: pertenecer a los estratos socioeconómicos bajos (RP=1.35; IC 95% 1.01 - 1.79), tener un nivel educativo de primaria (RP= 1.44; IC 95%: 1.07 - 1.93), consumo de sustancias psicoactivas, marihuana (RP=1.80, IC95%: 1.40 – 2.32), tener familiares de primer grado con antecedentes de enfermedad mental (RP=1.48, IC95%: 1.12 -1.94); y el tener madre con antecedente de enfermedad mental (RP=1.77, IC95%: 1.36 - 2.31). Los factores que explicaron la no adherencia con el análisis multivariado fueron: el no haber tenido a tiempo los medicamentos y el no haberlos recibido en su totalidad en el último mes, comportándose como factores con mayor probabilidad de asociación a la no adherencia. Conclusión: Tener antecedentes familiares en primer grado de enfermedad mental, inadecuado acceso a los servicios de salud, consumo de sustancias psicoactivas y efectos adversos aumentan el riesgo de no adherencia al tratamiento farmacológico en pacientes esquizofrénicos predisponen a un mayor riesgo de no adherencia terapéutica. Palabras clave: Esquizofrenia, adherencia al tratamiento, factores de riesgo, antipsicóticos.

Presión arterial en preescolares de la localidad de Usaquén en Bogotá

Introducción: La hipertensión arterial es un problema de salud pública tanto en países industrializados como en vía de desarrollo. Su prevalencia en la infancia viene en aumento por lo que es relevante determinarla en niños preescolares a nivel local. Objetivo: Determinar la prevalencia de hipertensión arterial en niños de tres a cinco años de una cohorte de 14 hogares infantiles del ICBF de la localidad de Usaquén en Bogotá. Materiales y métodos: Se realizó un estudio de corte transversal analítico, utilizando la base de datos de un ensayo aleatorizado y controlado del año 200913, y se evaluaron las cifras de tensión arterial de acuerdo a sexo, edad, talla y su correlación con el IMC con un nivel de confianza del 95% y precisión del 1%. Se calcularon las medias, desviaciones estándar, percentiles y prevalencia. Resultados: Se obtuvo una muestra de 1035 casos, encontrándose una prevalencia de 4,5% de HTA sistólica, 10,4% de diastólica, ambas en estadio I; teniendo en cuenta tanto sistólica como diastólica, fue de 11,6% en estadio I. Se determinaron los valores de presión arterial sistólica y diastólica en cuartiles de acuerdo a edad, sexo y talla. El coeficiente de correlación entre el IMC y los niveles de presión arterial sistólica y diastólica fueron de 0.0992 y 0.0362 respectivamente. Conclusión: La prevalencia de HTA general fue de 11,6%, predominando la diastólica en estadio I en niños preescolares. No se encontró correlación entre el IMC y las cifras de tensión arterial sistólica y diastólica.

Prevalencia de enfermedad celiaca en Latinoamérica: revisión sistemática de la literatura y meta-análisis

Introducción: La enfermedad celiaca (EC) es una enfermedad autoinmune (EA) intestinal desencadenada por la ingesta de gluten. Por la falta de información de la presencia de EC en Latinoamérica (LA), nosotros investigamos la prevalencia de la enfermedad en esta región utilizando una revisión sistemática de la literatura y un meta-análisis. Métodos y resultados: Este trabajo fue realizado en dos fases: La primera, fue un estudio de corte transversal de 300 individuos Colombianos. La segunda, fue una revisión sistemática y una meta-regresión siguiendo las guías PRSIMA. Nuestros resultados ponen de manifiesto una falta de anti-transglutaminasa tisular (tTG) e IgA anti-endomisio (EMA) en la población Colombiana. En la revisión sistemática, 72 artículos cumplían con los criterios de selección, la prevalencia estimada de EC en LA fue de 0,46% a 0,64%, mientras que la prevalencia en familiares de primer grado fue de 5,5 a 5,6%, y en los pacientes con diabetes mellitus tipo 1 fue de 4,6% a 8,7% Conclusión: Nuestro estudio muestra que la prevalencia de EC en pacientes sanos de LA es similar a la notificada en la población europea.

Actitudes hacia el VIH/SIDA, el cáncer y la enfermedad de Alzheimer

Esta revisión de la literatura tuvo como objetivo describir las actitudes hacia el VIH/SIDA, el cáncer y la Enfermedad de Alzheimer desde el modelo tripartito. Se revisaron 109 artículos publicados entre 2005 y 2015 en algunas bases de datos especializadas y herramientas de análisis de impacto. También se incluyeron fuentes secundarias ampliándose la búsqueda a los últimos 20 años (1995-2015). Los resultados mostraron que la mayoría de los estudios realizados sobre las actitudes hacia estas tres enfermedades son de tipo cuantitativo y la información se analizó con base en los componentes del modelo tripartito. Algunos aspectos sociodemográficos como el sexo y la edad están asociados con las actitudes hacia las tres enfermedades y predominan las creencias erróneas sobre ellas respecto a sus causas, curso y tratamiento. También predominan actitudes negativas hacia las tres enfermedades y las conductas e intenciones conductuales son diversas hacia cada una de ellas. No se hallaron antecedentes empíricos del estudio de la estructura de las actitudes propuesta por el modelo tripartito hacia las tres enfermedades. La Salud Pública ha liderado la investigación con base en el modelo de conocimientos, actitudes y prácticas propuesto por la OMS.