18 resultados para Sindrome de Brugada
em Consorci de Serveis Universitaris de Catalunya (CSUC), Spain
Resumo:
El present treball es basa per una banda en una revisió bibliogràfica de la disfàgia orofaríngia en el pacient ancià amb especial èmfasi en el pacient ancià fràgil. Aquest document ha estat dissenyat per a la publicació pròxima com capítol Nº29 del primer tractat de Geriatria en espanyol de l'editorial ELSEVIER organitzat pel Dr Pedro Abizanda Soler. El segon document és un protocol de recerca del meu primer disseny de projecte de tesi doctoral. El projecte ha estat aprovat recentment pel Comitè d´Ètica del nostre centre i ha estat presentat a l'oposició de beques hospitalàries de l'Acadèmia de Ciències Mèdiques de la Filial del Maresme
Resumo:
El síndrome de regresión caudal o de agenesia sacra se caracteriza por un déficit funcional de los esfínteres y de la muscultatura de los miembros inferiores. Se suele asociar con otras malformaciones, como son las esqueléticas, genitourinarias y del tracto intestinal. La diabetes mellitus materna es uno de los factores predisponentes más destacados. Aquí se presenta un caso de síndrome de regresión caudal con insufiencia renal secundaria a la uropatía malformativa asociada. Se comentan los disrarfismos espinales ocultos y el síndrome de Vater.
Resumo:
Brugada syndrome (BrS) is a life-threatening, inherited arrhythmogenic syndrome associated with autosomal dominant mutations in SCN5A, the gene encoding the cardiac Na₊ channel alpha subunit (Naᵥ1.5). The aim of this work was to characterize the functional alterations caused by a novel SCN5A mutation, I890T, and thus establish whether this mutation is associated with BrS. The mutation was identified by direct sequencing of SCN5A from the proband’s DNA. Wild-type (WT) or I890T Naᵥ1.5 channels were heterologously expressed in human embryonic kidney cells. Sodium currents were studied using standard whole cell patch-clamp protocols and immunodetection experiments were performed using an antibody against human Naᵥ1.5 channel. A marked decrease in current density was observed in cells expressing the I890T channel (from -52.0 ± 6.5 pA/pF, n=15 to 35.9 ± 3.4 pA/pF, n = 22, at -20 mV, WT and I890T, respectively). Moreover, a positive shift of the activation curve was identified (V½ =-32.0 ± 0.3 mV, n = 18, and -27.3 ± 0.3 mV, n = 22, WT and I890T, respectively). No changes between WT and I890T currents were observed in steady-state inactivation, time course of inactivation, slow inactivation or recovery from inactivation parameters. Cell surface protein biotinylation analyses confirmed that Nav1.5 channel membrane expression levels were similar in WT and I890T cells. In summary, our data reveal that the I890T mutation, located within the pore of Nav1.5, causes an evident loss-of-function of the channel. Thus, the BrS phenotype observed in the proband is most likely due to this mutation
Resumo:
Estudi sobre el cànon de la còpia privada enfocat a l’anàlisi del concepte del cànon, l’objecte, els subjectes que intervenen, la quantia que s’ha de pagar com a compensació de la còpia, la distribució del mateix, les obligacions instrumentals i les entitats de gestió. A través del mateix es podrà tenir una visió més clara i profunda del cànon de la còpia privada objecte de tant discutida i convulsa configuració jurídica com enverinada confrontació política. El cànon de la còpia privada es pot configurar com un instrument de naturalesa jurídica privada, que revesteix la forma d’una llicència legal indirecta.
Resumo:
L'objectiu d'aquest estudi és definir els patrons d’hipoacúsia en dones amb Síndrome de Turner i els possibles factors que poden afavorir el desenvolupament d’hipoacúsia neurosensorial en dones adultes amb Síndrome de Turner. Es va trobar que més de la meitat de les dones amb Sindrome de Turner presenten hipoacúsia a l’audiometria, confirmat pels potencials evocats auditius de tronc; la hipoacúsia neurosensorial és el tipus de pèrdua d'audició més freqüent entre dones de mitjana edat amb síndrome de Turner i l'edat, el cariotip i la història prèvia d'otitis mitja recurrent són possibles factors de risc per l’aparició d’hipoacúsia en aquestes pacients.
Resumo:
This paper presents a new registration algorithm, called Temporal Di eomorphic Free Form Deformation (TDFFD), and its application to motion and strain quanti cation from a sequence of 3D ultrasound (US) images. The originality of our approach resides in enforcing time consistency by representing the 4D velocity eld as the sum of continuous spatiotemporal B-Spline kernels. The spatiotemporal displacement eld is then recovered through forward Eulerian integration of the non-stationary velocity eld. The strain tensor iscomputed locally using the spatial derivatives of the reconstructed displacement eld. The energy functional considered in this paper weighs two terms: the image similarity and a regularization term. The image similarity metric is the sum of squared di erences between the intensities of each frame and a reference one. Any frame in the sequence can be chosen as reference. The regularization term is based on theincompressibility of myocardial tissue. TDFFD was compared to pairwise 3D FFD and 3D+t FFD, bothon displacement and velocity elds, on a set of synthetic 3D US images with di erent noise levels. TDFFDshowed increased robustness to noise compared to these two state-of-the-art algorithms. TDFFD also proved to be more resistant to a reduced temporal resolution when decimating this synthetic sequence. Finally, this synthetic dataset was used to determine optimal settings of the TDFFD algorithm. Subsequently, TDFFDwas applied to a database of cardiac 3D US images of the left ventricle acquired from 9 healthy volunteers and 13 patients treated by Cardiac Resynchronization Therapy (CRT). On healthy cases, uniform strain patterns were observed over all myocardial segments, as physiologically expected. On all CRT patients, theimprovement in synchrony of regional longitudinal strain correlated with CRT clinical outcome as quanti ed by the reduction of end-systolic left ventricular volume at follow-up (6 and 12 months), showing the potential of the proposed algorithm for the assessment of CRT.
Resumo:
Objective To determine the clinical and electrophysiological characteristics of patients with paroxysmal palpitations and neck pounding during sinus rhythm. Methods Clinical, electrocardiographic, and electrophysiological characteristics of six patients with paroxysmal palpitations and neck pounding during sinus rhythm were studied in basal conditions and when symptomatic. Response to treatment was observed. Results Baseline ECGs were normal (four patients) or had first degree atrioventricular block with intermittent PR shortening. During symptoms, narrow QRS rhythms were seen without visible P waves (three patients) or with P waves partially hidden in the QRS complex (three patients). Dual atrioventricular nodal pathways were found in all five patients who had electrophysiological studies. In these patients the slow pathway conduction time was long enough (mean (SD), 425 (121)¿ms) for ventricular activation after slow pathway conduction during sinus rhythm to coincide with the next atrial depolarisation, causing neck pounding during exercise (four patients) or at rest (two patients). Tachycardia was not induced in any patient. Medical treatment aggravated symptoms in three patients. A pacemaker was successfully used in two. Conclusions Neck pounding during sinus rhythm is a clinical manifestation of dual atrioventricular nodal pathways. Medical treatment may aggravate symptoms but a pacemaker may offer definitive relief.
Resumo:
Antecedentes: Las aplicaciones de radiofrecuencia durante la ablación de la fibrilación auricular (FA) producen dolor y ansiedad. El tratamiento habitual se basa en la administración de analgésicos y sedación. La sedación intensa puede producir inestabilidad hemodinámica y desaturaciones.Objetivos: Comparar la incidencia de desaturaciones en relación a la utilización de dos protocolos distintos de tratamiento del dolor durante la ablación de FA. Uno de los protocolos está basado en la sedación con propofol (protocolo 1) y el otro en la analgesia intensa (protocolo 2).Resultados: Hemos analizado los datos de recogidos durante el procedimiento en un grupo de 43 pacientes tratados según el protocolo 1 y otro grupo de 43 pacientes tratados según el protocolo 2. Las variables analizadas han sido: la desaturación máxima, la dosis media de propofol y la dosis media de fentanilo. Las dosis de propofol necesarias en los pacientes del protocolo 1 han sido mayores que con el protocolo 2 (2,4±1,4mg/kg vs 1,7±0,5 mg/kg; p=0,005). La dosis de fentanilo en los pacientes del protocolo 1 han sido menores que en los del protocolo 2 (35,4±17,3mg vs 51,1±18,6mg vs; p<0,001). El 83,65% de los pacientes del protocolo 2 se mantuvo por encima del 94% de saturación frente al 58,1% de pacientes del protocolo 1. Conclusiones: Con el tratamiento basado en la analgesia para los procedimientos de ablación de FA se consigue que una menor proporción de pacientes tengan desaturaciones.
Resumo:
Este trabajo pretende analizar la similitud entre algunos de los ítems de dos escalas utilizadas en el psicodiignóstico de la primera infancia y construidas a partir de marcos conceptuales divergentes: Brunet-Uzine de estructura psicométrica clásica y Casati-Uzine, adaptación de las pruebas de Piaget. Asimismo deseamos.verificar si ambas escalas proporcionan dliagnósticos equivalentes al aplicarlas a niños con sindrome de Down. El análisis sistemático del contenido de 10s ítems de las dos escalas evidencia una gran similitud de las pautas de conducta que algunos de los items solicitan al niño. El tratamiento estadístic0 de 10s datos indica que para el tipo de niños estudiado la escala Casati-Lézine tiende a acordar edades de desarrollo más altas que la de Brunet-Lézine. La muestra esta compuesta por 18 niños, entre 6 y 24 meses, con sindrome de Down.
Resumo:
Changes in the informal caregiver life styles, relations and alterations of mental health. Justification.The increase of the population aged 65 years and older in developed countries is generating a proportional increasing of the dependency caused by chronic pathologies. The care of these persons is being carried out by relatives, informal carers, leading to some alterations in diverse areas, among them mental alterations, as a consequence of taking care. Objectives. To develop a profile of the informal carers and to correlate the caregiver burden with the carers disorders. To detect risk factors to allow carrying out premature nursing interventions to diminish the disorders in the informal carers. Design. An observational and cross-sectional study is made in primary care health services area of the city of Girona. Methodology. Random sample of carer of dependent people at their home , assigned to the program of domiciliary attention (ATDOM) of the educational basic areas of health (ABS). A sample size of 269 persons, with a level of precision of 9% was needed. Questionnaire ICUB 97, the test of Barthel, the Philadelphia Geriatric Center scale, and a questionnaire are used as instruments that includes demographic and social variables, and mental and physical carers disorders.Results. A total of 80 participants were interviewed. The most common problems as consequence of taking care were the backache, to feel more tired, to feel impotent and to have less free time. Correlation between the level of dependence of the patient with the number of problems perceived by the caretaker does not exist. Since they are informal carers they eat frequently outside the habitual schedule, took place an increase or loss of weight, experienced more disorders in sexual life and an increasing lack of interest in surroundings. A 33% of the informal carers are being treated for problems related to the mental health.Conclusion. The fact of being informal carer carries important consequences in their health, the lifestyles and the social relations. These can be attenuated if the nursing interventions are able to consider to the well-taken care of subject, and its surroundings in an holistic way. The professionals of infirmary of mental health must contribute to their knowledge and abilities contributing to make an assessment, a diagnosis and an intervention paying special attention to psycho-social aspects mentioned
Resumo:
Early repolarization, which is characterized by an elevation of the J-point on 12-lead electrocardiography, is a common finding that has been considered as benign for decades. However, in the last years, it has been related with vulnerability to idiopathic ventricular fibrillation and with cardiac mortality in the general population. Recently, 4 potential ECG predictors that could differentiate the benign from the malignant form of early repolarization have been suggested. Any previous study about early repolarization has been done in Spain. Aim. To ascertain whether the presence of early repolarization pattern in a resting electrocardiogram is associated with a major risk of cardiac death in a Spanish general population and to determine whether the presence of potential predictors of malignancy in a resting electrocardiogram increases the risk of cardiac mortality in patients with early repolarization pattern. Methods. We will analyse the presence of early repolarization and the occurrence of cardiac mortality in a retrospective cohort study of 4,279 participants aged 25 to 74 years in the province of Girona. This cohort has been followed during a mean of 9.8 years. Early repolarization will be stratified according to the degree of J-point elevation (≥0.1 mV or ≥0.2 mV), the morphology of the J-wave (slurring, notching or any of these two), the ST-segment pattern (ascending or descending) and the localization (inferior leads, lateral leads, or both). Association of early repolarization with cardiac death will be assessed by adjusted Cox-proportional hazards models
Resumo:
Changes in the informal caregiver life styles, relations and alterations of mental health. Justification.The increase of the population aged 65 years and older in developed countries is generating a proportional increasing of the dependency caused by chronic pathologies. The care of these persons is being carried out by relatives, informal carers, leading to some alterations in diverse areas, among them mental alterations, as a consequence of taking care. Objectives. To develop a profile of the informal carers and to correlate the caregiver burden with the carers disorders. To detect risk factors to allow carrying out premature nursing interventions to diminish the disorders in the informal carers. Design. An observational and cross-sectional study is made in primary care health services area of the city of Girona. Methodology. Random sample of carer of dependent people at their home , assigned to the program of domiciliary attention (ATDOM) of the educational basic areas of health (ABS). A sample size of 269 persons, with a level of precision of 9% was needed. Questionnaire ICUB 97, the test of Barthel, the Philadelphia Geriatric Center scale, and a questionnaire are used as instruments that includes demographic and social variables, and mental and physical carers disorders.Results. A total of 80 participants were interviewed. The most common problems as consequence of taking care were the backache, to feel more tired, to feel impotent and to have less free time. Correlation between the level of dependence of the patient with the number of problems perceived by the caretaker does not exist. Since they are informal carers they eat frequently outside the habitual schedule, took place an increase or loss of weight, experienced more disorders in sexual life and an increasing lack of interest in surroundings. A 33% of the informal carers are being treated for problems related to the mental health.Conclusion. The fact of being informal carer carries important consequences in their health, the lifestyles and the social relations. These can be attenuated if the nursing interventions are able to consider to the well-taken care of subject, and its surroundings in an holistic way. The professionals of infirmary of mental health must contribute to their knowledge and abilities contributing to make an assessment, a diagnosis and an intervention paying special attention to psycho-social aspects mentioned
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La idea d'aquest projecte és doble. D'una banda, desenvolupar una plataforma per permetre al Centre Excursionista Olot (CEO) centralitzar totes les inscripcions a les diferents excursions que organitzen en una sola plataforma. I, de l'altra, estudiar quines possibilitats ofereix la tecnologia LAMP per desenvolupar software a nivell professional.
Resumo:
Los autores exponen el caso de un paciente de dos años de edad afecto de un cuadro clínico que cumplia todos los criterios diagnósticos del sindrome de Fisher. En esta entidad poco frecuente y de etiopatogenia desconocida se discute si la lesion asienta a nivel periférico -como en la polirradiculoneuritis del síndrome de Guillain-Barré- o por el contrario tiene lugar en el Sistema Nervioso Central. Los hallazgos clínicos en este caso, así como el resultado de alguno ae los exámenes complementarios, apoyan la participación central. La evolución hacia la recuperación fue lenta, pero favorable, como está descrito.
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PROTOCOLOS TERAPÉUTICOS. SINDROME HEMORRAGICO NEONATAL. La hemorragia neonatal puede aparecer ante una gran variedad de situaciones. Es importante tener en cuenta que la volemia a esta edad es de 80 ml/Kg de lo que se deduce la importancia de cualquier pÉrdida sanguÍnea por pequeÑa que sea..