65 research outputs found
Devices for Ambulatory Monitoring of Sleep-Associated Disorders in Children with Neurological Diseases
Good sleep quality is essential for a child’s wellbeing. Early sleep problems have been linked to the later development of emotional and behavioral disorders and can negatively impact the quality of life of the child and his or her family. Sleep-associated conditions are frequent in the pediatric population, and even more so in children with neurological problems. Monitoring devices can help to better characterize sleep efficiency and sleep quality. They can also be helpful to better characterize paroxysmal nocturnal events and differentiate between nocturnal seizures, parasomnias, and obstructive sleep apnea, each of which has a different management. Overnight ambulatory detection devices allow for a tolerable, low cost, objective assessment of sleep quality in the patient’s natural environment. They can also be used as a notification system to allow for rapid recognition and prompt intervention of events like seizures. Optimal monitoring devices will be patient- and diagnosis-specific, but may include a combination of modalities such as ambulatory electroencephalograms, actigraphy, and pulse oximetry. We will summarize the current literature on ambulatory sleep devices for detecting sleep disorders in children with neurological diseases
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood\u2014a study of 155 patients
Background: Mutations in the gene ATP1A3 have recently been identified to be prevalent in patients with alternating hemiplegia of childhood (AHC2). Based on a large series of patients with AHC, we set out to identify the spectrum of different mutations within the ATP1A3 gene and further establish any correlation with phenotype. Methods: Clinical data from an international cohort of 155 AHC patients (84 females, 71 males; between 3 months and 52 years) were gathered using a specifically formulated questionnaire and analysed relative to the mutational ATP1A3 gene data for each patient. Results: In total, 34 different ATP1A3 mutations were detected in 85 % (132/155) patients, seven of which were novel. In general, mutations were found to cluster into five different regions. The most frequent mutations included: p.Asp801Asn (43 %; 57/132), p.Glu815Lys (16 %; 22/132), and p.Gly947Arg (11 %; 15/132). Of these, p.Glu815Lys was associated with a severe phenotype, with more severe intellectual and motor disability. p.Asp801Asn appeared to confer a milder phenotypic expression, and p.Gly947Arg appeared to correlate with the most favourable prognosis, compared to the other two frequent mutations. Overall, the comparison of the clinical profiles suggested a gradient of severity between the three major mutations with differences in intellectual (p = 0.029) and motor (p = 0.039) disabilities being statistically significant. For patients with epilepsy, age at onset of seizures was earlier for patients with either p.Glu815Lys or p.Gly947Arg mutation, compared to those with p.Asp801Asn mutation (p < 0.001). With regards to the five mutation clusters, some clusters appeared to correlate with certain clinical phenotypes. No statistically significant clinical correlations were found between patients with and without ATP1A3 mutations. Conclusions: Our results, demonstrate a highly variable clinical phenotype in patients with AHC2 that correlates with certain mutations and possibly clusters within the ATP1A3 gene. Our description of the clinical profile of patients with the most frequent mutations and the clinical picture of those with less common mutations confirms the results from previous studies, and further expands the spectrum of genotype-phenotype correlations. Our results may be useful to confirm diagnosis and may influence decisions to ensure appropriate early medical intervention in patients with AHC. They provide a stronger basis for the constitution of more homogeneous groups to be included in clinical trial
Clinical profile of patients with ATP1A3 mutations in alternating hemiplegia of childhood-a study of 155 patients.
BACKGROUND: Mutations in the gene ATP1A3 have recently been identified to be prevalent in patients with alternating hemiplegia of childhood (AHC2). Based on a large series of patients with AHC, we set out to identify the spectrum of different mutations within the ATP1A3 gene and further establish any correlation with phenotype. METHODS: Clinical data from an international cohort of 155 AHC patients (84 females, 71 males; between 3 months and 52 years) were gathered using a specifically formulated questionnaire and analysed relative to the mutational ATP1A3 gene data for each patient. RESULTS: In total, 34 different ATP1A3 mutations were detected in 85 % (132/155) patients, seven of which were novel. In general, mutations were found to cluster into five different regions. The most frequent mutations included: p.Asp801Asn (43 %; 57/132), p.Glu815Lys (16 %; 22/132), and p.Gly947Arg (11 %; 15/132). Of these, p.Glu815Lys was associated with a severe phenotype, with more severe intellectual and motor disability. p.Asp801Asn appeared to confer a milder phenotypic expression, and p.Gly947Arg appeared to correlate with the most favourable prognosis, compared to the other two frequent mutations. Overall, the comparison of the clinical profiles suggested a gradient of severity between the three major mutations with differences in intellectual (p = 0.029) and motor (p = 0.039) disabilities being statistically significant. For patients with epilepsy, age at onset of seizures was earlier for patients with either p.Glu815Lys or p.Gly947Arg mutation, compared to those with p.Asp801Asn mutation (p < 0.001). With regards to the five mutation clusters, some clusters appeared to correlate with certain clinical phenotypes. No statistically significant clinical correlations were found between patients with and without ATP1A3 mutations. CONCLUSIONS: Our results, demonstrate a highly variable clinical phenotype in patients with AHC2 that correlates with certain mutations and possibly clusters within the ATP1A3 gene. Our description of the clinical profile of patients with the most frequent mutations and the clinical picture of those with less common mutations confirms the results from previous studies, and further expands the spectrum of genotype-phenotype correlations. Our results may be useful to confirm diagnosis and may influence decisions to ensure appropriate early medical intervention in patients with AHC. They provide a stronger basis for the constitution of more homogeneous groups to be included in clinical trials
Memoria del III Coloquio Internacional sobre Diversidad Cultural y Estudios Regionales
Del 05 al 07 de noviembre de 2014 se llevó a cabo en la Sede de Occidente de la Universidad de Costa Rica, el III Coloquio Internacional sobre Diversidad Cultural y Estudios Regionales, dicado a Julieta Dobles Izaguirre, Premio Nacional de Cultura Magón, 2013. Este III Coloquio Internacional fue
organizado por el Centro de Investigaciones sobre Diversidad Cultural y Estudios Regionales (CIDICER), primer Centro de Investigaciones de una Sede Regional de la Universidad de Costa Rica. Se contó con personas investigacdoras nacionales e internacionales quienes presentaron sobre temas relacionados
con la diversidad cultural y los estudios regionales.Universidad de Costa Rica/[836-B4-702]/UCR/Costa RicaUCR::Sedes Regionales::Sede de Occidente::Recinto San Ramón::Centro de Investigaciones sobre Diversidad Cultural y Estudios Regionales (CIDICER
Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery
BACKGROUND: Detailed neuropathological information on the structural brain lesions underlying seizures is valuable for understanding drug-resistant focal epilepsy. / METHODS: We report the diagnoses made on the basis of resected brain specimens from 9523 patients who underwent epilepsy surgery for drug-resistant seizures in 36 centers from 12 European countries over 25 years. Histopathological diagnoses were determined through examination of the specimens in local hospitals (41%) or at the German Neuropathology Reference Center for Epilepsy Surgery (59%). / RESULTS: The onset of seizures occurred before 18 years of age in 75.9% of patients overall, and 72.5% of the patients underwent surgery as adults. The mean duration of epilepsy before surgical resection was 20.1 years among adults and 5.3 years among children. The temporal lobe was involved in 71.9% of operations. There were 36 histopathological diagnoses in seven major disease categories. The most common categories were hippocampal sclerosis, found in 36.4% of the patients (88.7% of cases were in adults), tumors (mainly ganglioglioma) in 23.6%, and malformations of cortical development in 19.8% (focal cortical dysplasia was the most common type, 52.7% of cases of which were in children). No histopathological diagnosis could be established for 7.7% of the patients. / CONCLUSIONS: In patients with drug-resistant focal epilepsy requiring surgery, hippocampal sclerosis was the most common histopathological diagnosis among adults, and focal cortical dysplasia was the most common diagnosis among children. Tumors were the second most common lesion in both groups. (Funded by the European Union and others.
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients
Actualización en los mecanismos fisiopatológicos de la insuficiencia cardiaca Update in physiopathological mechanisms in heart failure
La insuficiencia cardiaca es uno de los síndromes clínicos más frecuentes en la práctica médica y se presenta cuando el corazón,a presiones normales de llenado,es incapaz de bombear la cantidad suficiente de sangre que requiere el metabolismo de los tejidos.Aquí se presenta una revisión de los datos más recientes sobre los mecanismos involucrados en la fisiopatología de la insuficiencia cardiaca,para que su conocimiento sea de utilidad en el manejo adecuado de esta entidad. En la insuficiencia cardiaca,como respuesta al gasto cardiaco insuficiente, se activan una serie de mecanismos neuroendocrinos sistémicos,que posteriormente, contribuyen al deterioro del cuadro clínico; es el caso del sistema simpático y el sistema renina-angiotensina-aldosterona, los cuales terminan produciendo daño endotelial, incremento de radicales libres, de la apoptosis, de la fibrosis cardiaca y generación de arritmias.También se observa un incremento en la liberación de péptidos natriuréticos, los cuales tienden a regular algunas de las respuestas neurohumorales exacerbadas, sin embargo, con el transcurso de la enfermedad su acción tiende a atenuarse.Celular y molecularmente se producen una serie de alteraciones en el manejo intracelular del Ca2+, así como en algunas de las corrientes iónicas que participan en la generación del potencial de acción de los miocitos cardiacos. La remodelación cardiaca precede al cuadro clínico de la insuficiencia y contribuye a su deterioro.Mensajeros químicos como la endotelina-1, la norepinefrina y la angiotensina II, que activan la cascada de las MAP quinasas, provocan hipertrofia cardiaca, lo que favorece la isquemia y la aparición de arritmias.El manejo farmacológico de la insuficiencia cardiaca debe dirigirse a los mecanismos fisiopatológicos afectados, es decir, al bloqueo de las acciones deletéreas de los sistemas neuroendocrinos sobreestimulados y a evitar la pérdida de miocitos, la generación de fibrosis y de arritmias cardiacas, para lo cual es indispensable el manejo apropiado de los niveles intracelulares de Ca2+.Heart failure is one of the most frequent clinical syndromes in medical practice;it appears when the heart is unable to pump enough volume of blood to supply the tissue ’s requirements.This article reviews the most recent information regarding the mechanisms involved in the pathophysiology of heart failure,the main goal is to offer the knowledge necessary to understand and manage properly this condition.In heart failure,as a response to the low cardiac output,a series of neuroendocrine systemic mechanisms are activated,but they contribute to deteriorate the clinical status;this happens with the sympathetic and the renin-angiotensin-aldosterone systems,which end up producing endothelial damage,increase of oxidative radicals,apoptosis, cardiac fibrosis and generation of arrhythmias.Also there is an increase in the secretion of natriuretic peptides,which tend to regulate some of the exacerbated neuroendocrine responses, but with time their effect tend to diminish.At the cellular and molecular level a series of alterations occur in the regulation of intracellular Ca2+, as well as in some of the ionic currents that play a role in the generation of action potentials in cardiac myocytes.Cardiac remodeling precedes the clinical manifestations of heart failure and contributes to its deterioration.Chemical messengers like endothelin-1,norepinephrine and angiotensin II,activate the MAP kinases cascade and provoke cardiac hypertrophy favoring the development of ischemia and the appearance of arrhythmias.Pharmacological management of heart failure must aim the mechanisms affected,it must block the deleterious actions of the neuroendocrine systems,avoiding the loss of myocytes, the generation of fibrosis and the production of cardiac arrhythmias,in order to achieve this goal an appropriate management of intracellular levels of Ca2+ is required
Efectos de un programa de entrenamiento de fuerza con pesas en nadadores con Síndrome de Down
The objective of this study was to determine the effect of weight resistance training on strength in swimmers with Down Syndrome (DS). Seven swimmers with DS participated in the study: 6 men and 1 woman, 23.14 years of age ± 4.59 and with 6.14 years ± 2.34 years of swimming. Instruments: One repetition maximum (RM) test to determine the individual�s maximum muscular strength. Procedure: the study was conducted for 10 weeks (2 weeks at baseline, 6 weeks of treatment and 2 weeks to see the effects of retention). Results: significantly positive changes were detected in the maximum strength of pectoral muscles (F=5.768; p=0.006), dorsal muscles (F = 26.770; p=7.45e-007), femoral biceps (F = 32.530; p=1.76e-007), quadriceps (F = 8.391; p=0.001), triceps (F = 11.217; p=0.0002) and these adjustments were maintained with no significant changes for two weeks, while the biceps muscle (F=4.145; p=0.021) behaved differently since it suffered no significant adjustments during the program.El objetivo de este estudio fue determinar el efecto de un programa de fuerza con pesas, sobre la fuerza máxima en nadadores con Síndrome de Down (SD). Participaron 7 nadadores con SD, 6 hombres y 1 mujer con edades de 23.14 años ± 4.59 y con 6.14 años ± 2.34 de práctica de deporte de la natación. Instrumentos: prueba de 1 repetición máxima (RM) para determinar la fuerza máxima muscular. Procedimiento: el estudio duró 10 semanas (2 semanas de línea de base, 6 semanas de tratamiento y 2 semanas para ver efectos de retención). Resultados: hubo cambios significativos positivos en la fuerza máxima de los músculos pectoral (F=5.768; p=0.006), dorsal (F= 26.770; p=7.45e-007), bíceps femoral (F= 32.530; p=1.76e-007), cuádriceps (F= 8.391; p=0.001), tríceps (F= 11.217; p=0.0002) y estas adaptaciones se mantuvieron, sin cambios significativos, durante dos semanas; mientras que el músculo del bíceps (F=4.145; p=0.021) se comportó de una manera diferente pues no tuvo adaptaciones significativas al programa
Análisis de la contaminación y desinfección de cepillos dentales con microorganismos: In Vitro
Seminario de graduación (licenciatura en odontología)UCR::Vicerrectoría de Docencia::Salud::Facultad de Odontologí
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