A trissomia 21 e o impacto na família

Projeto de investigação no âmbito da Pós-Graduação em Educação Especial - Domínio Cognitivo e Motor, da Escola Superior de Educação de Paula Frassinetti.

Interatividade digital do Método das 28 Palavras como motivador na aquisição da leitura em crianças portadoras de Trissomia 21: um estudo de caso

Projecto de investigação no âmbito da Pós-Graduação em Educação Especial da Escola Superior de Educação de Paula Frassinetti.

Representações de alunos do 3º ciclo face à integração de alunos com trissomia 21

Dissertação de Mestrado apresentada no Instituto Superior de Psicologia Aplicada para obtenção de grau de Mestre na especialidade de Psicologia Educacional

Frecuencia de infecciones respiratorias inferiores causadas por el virus sincitial respiratorio, en niños menores de dos años, hospitalizados en el servicio de pediatría del Hospital Vicente Corral Moscoso, Cuenca, 2008

Con el objetivo de determinar la frecuencia de infecciones respiratorias agudas bajas (IRABs) causadas por el virus sincitial respiratorio (VSR), en niños menores de dos años, hospitalizados en el servicio de pediatría del hospital Vicente Corral Moscoso. Materiales y métodos: estudio descriptivo, realizado en 163 niños/as menores de 2 años de edad, con infección respiratoria aguda baja. Se estudió al universo, es decir al total de la población seleccionada durante el período de 6 meses. Se evaluó la presencia del VSR en secreción nasal mediante la utilización de inmunoensayo de flujo lateral a través de un formato tipo test pack (Clearview RSV), que tiene una sensibilidad del 70 al 95%. Se incluyó en sangre: hemograma y proteína C reactiva y a todos los niños se solicitó una radiografía de tórax. Se estudió la relación entre infección por virus sincitial respiratorio y factores de riesgo: prematuridad, displasia broncopulmonar, ventilación mecánica, cardiopatía y síndrome de Down. Resultados: la frecuencia de positividad para el virus sincitial respiratorio en la población estudiada fue del 22.7%. El grupo de edad con mayor número de casos fue el de 1-3 meses con el 59.5%. Los hombres fueron el grupo con mayor porcentaje de resultado positivos 80%. Hubo asociación estadística significativa con los factores de riesgo: ventilación mecánica OR 6.40 (IC: 1.45 – 28.2) y displasia broncopulmonar OR 4.97 (IC: 1.06 – 23.3). Conclusiones: la frecuencia de virus sincitial respiratorio encontrada en nuestra investigación es menor a la reportada en la literatura revisada y está asociada a displasia broncopulmonar y ventilación mecánica

Síndrome down : prevalencia de enfermedades orodentales en una población del área metropolitana de Monterrey, Nuevo León

Tesis (Maestría en Metodología de las Ciencias) -- U.A.N.L. ; Facultad de Filosofía y Letras, 1996

Evaluación inmunológica, tratamiento quirúrgico y no quirúrgico de la periodontitis en los niños con síndrome Down por Rosa Ma. Zaldívar Chiapa

Tesis (Maestría en Ciencias Odontológicas) U.A.N.L.

Dyrk1A is dynamically expressed on subsets of motor neurons and in the neuromuscular junction: possible role in Down syndrome

Individuals with Down syndrome (DS) present important motor deficits that derive from altered motor development of infants and young children. DYRK1A, a candidate gene for DS abnormalities has been implicated in motor function due to its expression in motor nuclei in the adult brain, and its overexpression in DS mouse models leads to hyperactivity and altered motor learning. However, its precise role in the adult motor system, or its possible involvement in postnatal locomotor development has not yet been clarified. During the postnatal period we observed time-specific expression of Dyrk1A in discrete subsets of brainstem nuclei and spinal cord motor neurons. Interestingly, we describe for the first time the presence of Dyrk1A in the presynaptic terminal of the neuromuscular junctions and its axonal transport from the facial nucleus, suggesting a function for Dyrk1A in these structures. Relevant to DS, Dyrk1A overexpression in transgenic mice (TgDyrk1A) produces motor developmental alterations possibly contributing to DS motor phenotypes and modifies the numbers of motor cholinergic neurons, suggesting that the kinase may have a role in the development of the brainstem and spinal cord motor system.

Efectividad de un programa de ejercicios y pedaleo hacia atrás en atletas afectados de Síndrome de Dolor Femoropatelar en el Centro de alto rendimiento de Madrid.

¿Los atletas tratados con Síndrome de dolor femoropatelar que reciban un plan de prevención mediante el pedaleo hacia atrás disminuirán la recurrencia? El objetivo de dicho estudio es la reducción de la recurrencia en los atletas diagnosticados de Síndrome de dolor femoropatelar (PFPS) mediante la incorporación del pedaleo hacia atrás en el plan de prevención. Metodología: estudio experimental, controlado, aleatorio y simple ciego. Se elegirá una muestra de 20 pacientes diagnosticados de PFPS y que ya han recibido tratamiento. Se asignará de forma aleatoria y equitativa, 10 sujetos al grupo control y 10 sujetos al grupo experimental. El plan de intervención tendrá una duración de 10 semanas, 3 veces por semana (lunes, miércoles y viernes). Se recogerán datos acerca de los síntomas, la función y la capacidad para hacer deporte (VISA-p), el rendimiento funcional (Anteromedial lunge test, Step-down, Single-leg press, Bilateral squat, Balance and reach), la actividad electromiográfica simultanea del Vasto Medial Oblicuo y el Vasto Lateral, y la adherencia al plan de prevención. Estas variables se medirán al inicio, a las 5 semanas, al final del tratamiento (10 semanas) y a las 40 semanas de comenzar el estudio.

Síndrome de Burnout en médicos generales de consulta externa

Objetivos : Establecer la prevalencia de Síndrome de Burnout en 17 médicos de consulta externa de una IPS de Bogotá, antes de la jornada laboral y después de la misma. Determinar las dimensiones del Síndrome de Burnout y relacionarlas con las variables sociodemográficas escogidas para este caso. Metodología: Se realizó un estudio longitudinal con una población de 17 médicos generales de consulta externa de una IPS de la cuidad de Bogotá Colombia, en el año 2009. Se les aplicó el Test de Maslach, para determinar las tres dimensiones del Síndrome de Burnout las cuales son: agotamiento emocional, despersonalización y realización personal para establecer la relación con las variables escogidas previamente. Para el análisis estadístico se usó el Software Epi Info Versión 3.51. Las variables cuantitativas fueron resumidas teniendo en cuenta medidas de tendencia central y las variables cuantitativas se expresaron en forma de proporciones. Para realizar las comparaciones se utilizó la prueba Ji cuadrado con ajuste por Test de Fischer. Se consideró significancia estadística con p ‹ 0.05. Resultado : La población estudiada fue en su mayoría de género femenino, con una mediana de edad de 30 años. El 41.2% de los médicos trabajan 8 horas diarias y el 35.3% trabajan más de 8 horas al día. Se calificaron las tres dimensiones que propone el test de Maslach, las cuales son agotamiento emocional, despersonalización y realización personal dando un puntaje de alto medio y bajo según las respuestas de los médicos evaluados. . Dentro de las dimensiones analizadas del test de Maslach antes de la jornada laboral el 35.3 % presentan agotamiento emocional dentro de la puntuación alta y después de la jornada se aumenta a 47.1%. En cuanto al puntaje para medio en esta misma dimensión fue de 23.5 % y bajo 41.2% previo a la jornada , con un porcentaje al finalizar de la jornada de 17.6% y 35.3% respectivamente. La dimensión de despersonalización antes de la jornada fue de 29,4% para alto, 23.5% para medio y 47.1% para bajo. Al finalizar la jornada no se observan cambios significativos en los porcentajes de esta dimensión. No se obtuvo prevalencia significativa entre las variables estudiadas y cada una de las dimensiones del Test de Maslach. Discusión : Los resultados muestran que existe un cambio en la dimensión de agotamiento emocional al inicio de la jornada laboral comparado con el final de la misma. Las calificaciones obtenidas tuvieron valores altos, mientras que en los de valores medio y bajo disminuyó este agotamiento al finalizar la jornada. Para la despersonalización los valores no se vieron modificados tras la jornada de trabajo. En cuanto a la realización personal hubo una variación ya que los sujetos que fueron calificados al iniciar la jornada con valores altos disminuyeron al finalizar y los de valores medio y bajo aumentaron su realización personal al finalizar la jornada. De otra parte no se establecieron relaciones significativas con los factores extralaborales e individuales evaluados, teniendo en cuenta probablemente el tamaño de la población de estudio y el tiempo de evaluación.

Estudo do comportamento da PIO de 24 horas e frequência de glaucoma em pacientes com síndrome da apnéia obstrutiva do sono

Purpose: To determine the frequency of glaucoma and evaluate the behavior of 24-hour intraocular pressure in patients with the obstructive sleep apnea syndrome (OSAS). Methods: Eleven consecutive patients with OSAS, diagnosed by polysonography, were avaliated in a cross-sectional study. Demographic data were analyzed: age, sex, race/color, weight, height and associated diseases. The patients were submitted to complete ophthalmologic examination, including the visual field, as well as to 24-hour intra-ocular pressure (IOP) evaluation by an applanation tonometer at 9h, 12h, 15h, 18h, 24h and 6h in the lying and sitting positions. The diagnostic criterion for glaucoma was alteration of the visual field (VF) compatible with glaucoma and one or more of the following alterations: cup-disc ratio >= 0.7, hemorrhage, wedge-shaped defect, bayonet-shaped vessels, Hoyt's sign, asymmetry > than 0.2 between cup/disc ratio of the eyes. The angle should be opened without alterations. Results: 9 (82%) of 11 patients showed glaucoma or were suspected to have glaucoma, 9% of which exhibited normal tension glaucoma and 73% were suspected to have glaucoma for presenting alterations in the optic nerve or ocular hypertension. The mean for the IOP values of the 11 patients was observed to be the highest at 6 o'clock, when they were lying down. Variations of IOP >= 5 mmHg occurred in 7 (64%) of the patients, and variations of up to 14 mmHg and IOP peaks of up to 32 mmHg were observed. Conclusion: OSAS may be an important risk factor for the development of glaucoma, particularly that of normal tension glaucoma. Patients with OSAS must be referred to an ophthalmologist and those professionals must be attentive to the association of sleep disorders in patients with open-angle glaucoma.

Entre gestos e práticas: leituras de mães, professoras e meninas de um centro de referência down

Pós-graduação em Educação - FFC

Análise do risco da ocorrência da síndrome reprodutiva e respiratória dos suínos(PRRS) em granjas de suínos tecnificadas do Estado de São Paulo: estudo do perfil descritivo da situação atual

Pós-graduação em Medicina Veterinária - FMVZ

A influência da perda de peso no perfil inflamatório de mulheres com síndrome dos ovários policísticos

The polycystic ovary syndrome (PCOS) is considered the most common endocrine disorder in reproductive age women, with a prevalence ranging from 15 to 20%. In addition to hormonal and reproductive changes, it is common in PCOS the presence of risk factors for developing cardiovascular disease (CVD) and diabetes mellitus, insulin resistance (IR), visceral obesity, chronic low-grade inflammation and dyslipidemia. Due to the high frequency of obesity associated with PCOS, weight loss is considered as the first-line treatment for the syndrome by improving metabolic and normalizes serum androgens, restoring reproductive function of these patients. Objectives: To evaluate the inflammatory markers and IR in women with PCOS and healthy ovulatory with different nutritional status and how these parameters are displayed after weight loss through caloric restriction in with Down syndrome. Methods: Tumor necrosis factor-alpha (TNF-α), interleukin-6 (IL-6) and C-reactive protein (CRP) were assessed in serum samples from 40 women of childbearing age. The volunteers were divided into four groups: Group I (not eutrophic with PCOS, n = 12); Group II (not eutrophic without PCOS, n = 10), Group III (eutrophic with PCOS, n = 08) and Group IV (eutrophic without PCOS, n = 10). The categorization of groups was performed by body mass index (BMI), according to the World Health Organization (WHO) does not eutrophic, overweight and obesity (BMI> 25 kg / m²) and normal weight (BMI <24.9 kg / m²). IR was determined by HOMA-IR index. In the second phase of the study a controlled dietary intervention was performed and inflammatory parameters were evaluated in 21 overweight and obese women with PCOS, before and after weight loss. All patients received a low-calorie diet with reduction of 500 kcal / day of regular consumption with standard concentrations of macronutrients. Results: Phase 1: PCOS patients showed increased levels of CRP (p <0.01) and HOMAIR (p <0.01). When divided by BMI, both not eutrophic group with PCOS (I) as eutrophic with PCOS (III) showed increased levels of CRP (I = 2.35 ± 0,55mg / L and 2.63 ± III = 0,65mg / L; p <0.01) and HOMA-IR (I = 2.16 ± 2.54 and III = 1.07 ± 0.55; p <0.01). There were no differences in TNF-α and IL-6 between groups. Step 2: After the weight loss of 5% of the initial weight was reduced in all of the components of serum assessed inflammatory profile, PCR (154.75 ± 19:33) vs (78.06 ± 8.9) TNF α (10.89 ± 5.09) vs (6:39 ± 1:41) and IL6 (154.75 ± 19:33) vs (78.06 ± 08.09) (p <0:00) in association with improvement some hormonal parameters evaluated. Conclusion: PCOS contributed to the development of chronic inflammation and changes in glucose metabolism by increasing CRP, insulin and HOMA-IR, independent of nutritional status. The weight loss, caloric restriction has improved the inflammatory condition and hormonal status of the evaluated patients.

Down-regulation Of Slc8a1 As A Putative Apoptosis-evasion Mechanism By Modulation Of Calcium Levels In Penile Carcinoma.

The SLC8A1 gene, which encodes the Na(+)/Ca(2+) exchanger, plays a key role in calcium homeostasis. Our previous gene expression oligoarray data revealed SLC8A1 underexpression in penile carcinoma (PeCa). The aim of this study was to investigate whether the dysregulation of SLC8A1 expression is associated with apoptosis and cell proliferation in PeCa, via modulation of calcium concentration. The underlying mechanisms of SLC8A1 underexpression were also explored, focusing on copy number alteration and microRNA. Transcript levels of SLC8A1 gene and miR-223 were evaluated by quantitative PCR, comparing PeCa samples with normal glans tissues. SLC8A1 copy number was evaluated by microarray-based comparative genomic hybridization (array-CGH). Caspase-3 and Ki-67 immunostaining, as well as calcium distribution by Laser Ablation Imaging Inductively Coupled Plasma Mass Spectrometry [LA(i)-ICP-MS], were investigated in both normal and tumor samples. Confirming our previous data, SLC8A1 underexpression was detected in PeCa samples (P=0.001) and was not associated with gene copy number loss. In contrast, overexpression of miR-223 (P=0.002) was inversely correlated with SLC8A1 (P=0.015, r=-0.426), its putative repressor. In addition, SLC8A1 underexpression was associated with decreased calcium distribution, high Ki-67 and low caspase-3 immunoexpression in PeCa when compared with normal tissues. Down-regulation of the SLC8A1 gene, most likely mediated by its regulator miR-223, can lead to reduced calcium levels in PeCa and, consequently, to suppression of apoptosis and increased tumor cell proliferation. These data suggest that the miR-223-NCX1-calcium-signaling axis may represent a potential therapeutic approach in PeCa.

Chasing Cardiac Physiology And Pathology Down The Camkii Cascade.

Calcium dynamics is central in cardiac physiology, as the key event leading to the excitation-contraction coupling (ECC) and relaxation processes. The primary function of Ca(2+) in the heart is the control of mechanical activity developed by the myofibril contractile apparatus. This key role of Ca(2+) signaling explains the subtle and critical control of important events of ECC and relaxation, such Ca(2+) influx and SR Ca(2+) release and uptake. The multifunctional Ca(2+)-calmodulin-dependent protein kinase II (CaMKII) is a signaling molecule that regulates a diverse array of proteins involved not only in ECC and relaxation, but also in cell death, transcriptional activation of hypertrophy, inflammation and arrhythmias. CaMKII activity is triggered by an increase in intracellular Ca(2+) levels. This activity can be sustained, creating molecular memory after the decline in Ca(2+) concentration, by autophosphorylation of the enzyme, as well as by oxidation, glycosylation and nitrosylation at different sites of the regulatory domain of the kinase. CaMKII activity is enhanced in several cardiac diseases, altering the signaling pathways by which CaMKII regulates the different fundamental proteins involved in functional and transcriptional cardiac processes. Dysregulation of these pathways constitutes a central mechanism of various cardiac disease phenomena, like apoptosis and necrosis during ischemia/reperfusion injury, digitalis exposure, post-acidosis and heart failure arrhythmias, or cardiac hypertrophy. Here we summarize significant aspects of the molecular physiology of CaMKII and provide a conceptual framework for understanding the role of the CaMKII cascade on Ca(2+) regulation and dysregulation in cardiac health and disease.