Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 113
Filtrar
1.
Eur Rev Med Pharmacol Sci ; 27(11): 5246-5256, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-37318499

RESUMO

Anisakiasis is an arising zoonosis induced by parasitic nematodes belonging to the family Anisakidae. Anisakiasis is often caused by the ingestion of larval nematodes in uncooked or minimally processed seafood dishes, which are regularly consumed by humans. Significant potential sources of infection are raw fish (e.g., sushi and sashimi) that can be found in traditional Japanese cuisine and can be part of the culinary tradition of consumption of raw or marinated fish that is particularly diffused in European countries. During the last five decades, the global prevalence of human anisakiasis has been rising, becoming an emergent major public health problem. Thus, there is an unmet need for well-defined and cost-effective methods aimed at killing Anisakis larvae, thus reducing the incidence of anisakiasis. In this mini-review, we discuss the clinical features of anisakiasis as well as the effectiveness and mechanisms of action of the main methods employed for increasing seafood safety and killing Anisakis larvae, including freezing, heating, use of high hydrostatic pressure, salting process, pepsin digestion method and use of garlic oil.


Assuntos
Anisaquíase , Anisakis , Animais , Humanos , Anisaquíase/prevenção & controle , Anisaquíase/epidemiologia , Anisaquíase/etiologia , Larva , Alimentos Marinhos/parasitologia , Peixes/parasitologia
3.
Rev Neurol ; 66(S01): S65-S70, 2018 Mar 01.
Artigo em Espanhol | MEDLINE | ID: mdl-29516455

RESUMO

INTRODUCTION: Autism spectrum disorder (ASD) is a neurodevelopmental disorder associated with impairments in executive function, language, emotional function, and social function. Its anatomofunctional substrate is related to a disorganization of the brain's functional connections. The aim is to investigate the cerebral connections in subjects with ASD through the analysis of the interhemispheric coherence (IHC) of the quantified electroencephalogram and its changes after dolphin assisted therapy (DAT) versus therapeutical intervention without dolphins (TIWD). PATIENTS AND METHODS: The IHC was determined in 44 subjects with ASD before randomly assigning them to two therapeutic groups: DAT (n = 22) and TIWD (n = 22). The results were statistically analyzed through the multi-measure ANOVA test for within-subject (time) and between-subject (DAT vs TIWD) factors. RESULTS: The IHC showed a significant reduction (p < 0.05) for both groups in the delta, theta, beta, and alpha frequencies (p < 0.001) in the anterior frontal region (F3-F4), alpha in the central region (C3-C4) (p < 0.05), and alpha (p < 0.05) and beta (p < 0.001) in the temporal region (T3-T4). In the intersection with the specific treatment (DAT), the coherence in the alpha band increased in Fp1-Fp2 (p < 0.05), and the delta did not decline in F3-F4 (p < 0.05). CONCLUSION: In 5-year-old children with ASD, DAT increases the IHC in the anterior frontal region and stabilizes the tendency to reduce the delta band in the posterior frontal region.


TITLE: Estudio aleatorizado controlado de la coherencia interhemisferica del electroencefalograma tras terapia asistida con delfines en niños con trastorno del espectro autista.Introduccion. El trastorno del espectro autista (TEA) es un trastorno del neurodesarrollo asociado con trastornos de la funcion ejecutiva, el lenguaje, la funcion emocional y la funcion social, cuyo sustrato anatomofuncional se relaciona con una desorganizacion de las conexiones funcionales cerebrales. El objetivo es investigar las conexiones cerebrales en sujetos con TEA mediante analisis de la coherencia interhemisferica (CIH) del electroencefalograma cuantificado y sus cambios tras la terapia asistida con delfines (TAD) frente a la intervencion terapeutica sin delfines (ITSD). Pacientes y metodos. Se determino la CIH en 44 sujetos con TEA antes de asignarse aleatoriamente a dos grupos de tratamiento: TAD (n = 22) e ITSD (n = 22). Los resultados se analizaron estadisticamente mediante el test de la ANOVA multimedida para los factores intrasujeto (tiempo) e intersujeto (TAD frente a ITSD). Resultados. La CIH mostro una reduccion significativa (p < 0,05) para ambos grupos en las frecuencias delta, theta, beta y alfa (p < 0,001) en la region frontal anterior (F3-F4). Se hallo tambien una reduccion en la frecuencia alfa en la region central (C3-C4) (p < 0,05), y alfa (p < 0,05) y beta (p < 0,001) en la region temporal (T3-T4). En la interseccion con el tratamiento especifico (TAD), la coherencia en la banda alfa aumento en Fp1-Fp2 (p < 0,05) y no descendio la delta en F3-F4 (p < 0,05). Conclusion. En niños de 5 años con TEA, la TAD aumenta la CIH en la region frontal anterior y estabiliza la tendencia a la reduccion de la banda delta en la region frontal posterior.


Assuntos
Terapia Assistida com Animais , Transtorno do Espectro Autista/fisiopatologia , Golfinhos , Eletroencefalografia , Lobo Frontal/fisiopatologia , Animais , Transtorno do Espectro Autista/terapia , Ondas Encefálicas , Pré-Escolar , Feminino , Humanos , Masculino
4.
Rev Neurol ; 66(S01): S91-S96, 2018 Mar 01.
Artigo em Espanhol | MEDLINE | ID: mdl-29516459

RESUMO

INTRODUCTION: The current literature acknowledges an overlap of genetic, clinical and neuropsychological aspects between autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD), suggesting that there may be a common pattern that covers features ranging from the common genetic and structural aetiology to shared patterns of symptoms. AIM: To review the current advances in these common aspects. DEVELOPMENT: Several studies have pointed out preschool attentional difficulties as the basis of both disorders. From the genetic perspective, it is estimated that 50-72% of the genetic factors overlap between the two disorders. They also share a decrease in the volume of the corpus callosum and left frontal grey matter, as well as functional alterations such as dorsolateral prefrontal, striato-thalamic and superior parietal hypoactivation. Results are also found regarding executive functioning, with differential profiles for the two conditions, and also concerning the relationship between the repetitive and impulsive behaviours in the early stages of ASD and ensuing problems of hyperactivity. CONCLUSIONS: This new conception of the ASD-ADHD continuum, with a common neurodevelopmental basis and associated clinical features, could be of great use in clinical practice. It is suggested that this association should be taken into account when it comes to deciding on the treatment.


TITLE: Concordancias entre los trastornos del espectro del autismo y el trastorno por deficit de atencion/hiperactividad.Introduccion. La bibliografia actual reconoce un solapamiento de aspectos geneticos, clinicos y neuropsicologicos entre el trastorno del espectro del autismo (TEA) y el trastorno por deficit de atencion/hiperactividad (TDAH), sugiriendo que podria existir un patron comun que abarca desde la etiologia genetica y estructural comun hasta patrones sintomatologicos compartidos. Objetivo. Revisar los avances actuales en estos aspectos comunes. Desarrollo. Se han encontrado trabajos que apuntan a dificultades atencionales preescolares en la base de ambos trastornos. Desde la perspectiva genetica, se estima que un 50-72% de factores geneticos se solapan entre ambos trastornos. Tambien comparten una disminucion del volumen del cuerpo calloso y la sustancia gris frontal izquierda, y alteraciones funcionales como la hipoactivacion prefrontal dorsolateral, estriadotalamica y parietal superior. Se encuentran resultados en cuanto al funcionamiento ejecutivo, con perfiles diferenciales para ambas condiciones, y tambien sobre la relacion de los comportamientos repetitivos e impulsivos en las primeras etapas en TEA, con los problemas hiperactivos posteriores. Conclusiones. Esta nueva concepcion del continuo TEA-TDAH, con una base neuroevolutiva comun y caracteristicas clinicas asociadas, podria ser de gran utilidad para la practica clinica y se sugiere considerar la asociacion a la hora de plantear el tratamiento.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Transtorno do Espectro Autista/psicologia , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/genética , Transtorno do Deficit de Atenção com Hiperatividade/patologia , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/genética , Transtorno do Espectro Autista/patologia , Causalidade , Estimulantes do Sistema Nervoso Central/uso terapêutico , Criança , Comportamento Infantil , Transtornos do Comportamento Infantil/etiologia , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/patologia , Diagnóstico Precoce , Função Executiva , Previsões , Lobo Frontal/diagnóstico por imagem , Lobo Frontal/patologia , Humanos , Neuroimagem , Testes Neuropsicológicos
5.
Rev Neurol ; 66(S01): S121-S126, 2018 Mar 01.
Artigo em Espanhol | MEDLINE | ID: mdl-29516464

RESUMO

INTRODUCTION: The high prevalence of attention deficit hyperactivity disorder (ADHD), with at least one pupil per classroom, poses a challenge for all the professionals in contact with them, especially for teachers. AIM: To examine how much primary school teachers know about ADHD in three areas (general information, symptoms and diagnosis, and treatment). SUBJECTS AND METHODS: 125 primary school teachers from different communities answered the Knowledge of Attention Deficit Hyperactivity Disorder Scale (KADDS). RESULTS: The teachers answered fewer than half the items correctly, the symptoms and diagnosis subscale being the one where they were seen to be most knowledgeable. Teachers who had had children with ADHD in class displayed greater knowledge in the areas of general information and treatment, but less on the symptoms and diagnosis subscale. 32.8% of the teachers reported feeling somewhat or totally unable to teach children with ADHD in an effective way and recommend special education as a better educational style. Teachers with specific training in ADHD obtained better scores than those who had not received such instruction. CONCLUSION: Teachers with training in ADHD are more knowledgeable and more confident about their abilities when it comes to teaching children with ADHD.


TITLE: Estudio de los conocimientos de los maestros de educacion primaria sobre el trastorno por deficit de atencion/hiperactividad.Introduccion. La alta prevalencia del trastorno por deficit de atencion/hiperactividad (TDAH), con al menos un alumno por aula, supone un reto para todos los profesionales que estan en contacto con ellos, en especial para los maestros. Objetivo. Examinar los conocimientos de los maestros de educacion primaria sobre el TDAH en tres areas (informacion general, sintomas y diagnostico, y tratamiento). Sujetos y metodos. Un total de 125 maestros de educacion primaria de varias comunidades cumplimentaron la Knowledge of Attention Deficit Hyperactivity Disorder Scale (KADDS). Resultados. Los maestros contestaron de forma correcta a menos de la mitad de los items, y la subescala de sintomas y diagnostico es donde mas conocimientos demostraron. Los maestros que habian tenido niños con TDAH en clase mostraron mas conocimientos en las areas de informacion general y tratamiento, pero no en la subescala de sintomas y diagnostico. Un 32,8% de los maestros describe sentirse poco o nada capaz de enseñar eficazmente a niños con TDAH y recomienda la educacion especial como mejor estilo educativo. Los maestros con formacion especifica en TDAH obtuvieron mejores resultados en la KADDS en comparacion con los maestros sin formacion. Conclusion. Los maestros formados en TDAH demuestran un mayor grado de conocimiento y aumenta su confianza para llevar a cabo la labor educativa de los niños con TDAH.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Conhecimentos, Atitudes e Prática em Saúde , Professores Escolares/psicologia , Atitude Frente a Saúde , Criança , Educação Especial , Humanos , Relações Interpessoais , Instituições Acadêmicas , Inquéritos e Questionários , Avaliação de Sintomas , Ensino/psicologia
7.
Rev Neurol ; 64(s01): S95-S100, 2017 Feb 24.
Artigo em Espanhol | MEDLINE | ID: mdl-28256694

RESUMO

INTRODUCTION: The attention deficit-hyperactivity disorder (ADHD) has a prevalence among 3-7% in scholar population and it is associated with learning disabilities and executive dysfunctions. AIM: To study the relationship between the ADHD diagnostic through DSM-5 criteria and the neuropshychology evaluation of executive functions. SUBJECTS AND METHODS: The sample of this study consisted in 50 subjects, 12 females and 38 males, with an age between 8 and 10 years old. To evaluate the inhibitory control, we used the Stroop Test and the Continuous Performance Test (CPT), to evaluate intelligence and working memory we use the Wechsler Intelligence Scale WISC-IV, to evaluate attention we used the CPT and Selective Attention Test. RESULTS: There weren't significant differences between both subtypes of ADHD regarding working memory, on the other hand the female group had better abilities in cognitive flexibility task than males and subjects diagnosed with combined ADHD had more difficulties in inhibitory control. CONCLUSIONS: We can confirm that the definition of ADHD in DSM-5 isn't enough as them are imprecise. Therefore, the disease definition it's performed by a specific evaluation of attention and inhibitory control mechanisms and its necessary a neuropshychological evaluation of these brain functions.


TITLE: Comparacion entre el diagnostico del trastorno por deficit de atencion/hiperactividad con el DSM-5 y la valoracion neuropsicologica de las funciones ejecutivas.Introduccion. El trastorno por deficit de atencion/hiperactividad (TDAH) tiene una prevalencia del 3-7% de la poblacion en edad escolar y cursa con problemas academicos y disfunciones ejecutivas. Objetivo. Estudiar la relacion entre el diagnostico del TDAH por medio de los criterios del Manual diagnostico y estadistico de los trastornos mentales, quinta edicion (DSM-5), y la evaluacion neuropsicologica de las funciones ejecutivas. Sujetos y metodos. Se evaluo a 50 sujetos, 12 mujeres y 38 varones, entre 8 y 10 años. Para evaluar el control inhibitorio se utilizo el Continuous Performance Test (CPT) y el test de Stroop; para la inteligencia y la memoria de trabajo, la escala de inteligencia de Wechsler para niños-IV; y para la atencion, el CPT y el Selective Attention Test. Resultados. No habia diferencias significativas entre ambos subtipos de TDAH en cuanto a la memoria de trabajo. Las niñas presentaban mejores habilidades en la tarea de flexibilidad cognitiva que los niños, y los sujetos diagnosticados de TDAH combinado presentaban mayores dificultades en el control inhibitorio. Conclusiones. Confirmamos que las definiciones del TDAH en el DSM-5 son imprecisas. Son una escasa enumeracion de sintomas clinicos del trastorno, sin definir con claridad criterios propios de el. Por lo tanto, la definicion del trastorno se realiza por la evaluacion especifica de la atencion y de los mecanismos de control inhibitorio y, por ello, es necesaria una evaluacion neuropsicologica de las funciones cerebrales superiores.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Manual Diagnóstico e Estatístico de Transtornos Mentais , Função Executiva , Testes Neuropsicológicos , Criança , Feminino , Humanos , Testes de Inteligência , Masculino
8.
Rev Neurol ; 64(s01): S105-S109, 2017 Feb 24.
Artigo em Espanhol | MEDLINE | ID: mdl-28256696

RESUMO

AIM: To know the current state of the approach of attention deficit hyperactivity disorder (ADHD) in neuropediatricians. SUBJECTS AND METHODS: A telematic survey was carried out to collect preliminary information on the interest, difficulties in the management and treatment of ADHD to the 437 fellowship of the Neuropediactric Spanish Society (SENEP). RESULTS: Only 32.49% of the sent questionnaires were answered, with important geographic variability. 97.89% stated that 50% of their consultations were children with learning disabilities and ADHD. Regarding who started treatment for ADHD in their area, the majority answered that the neuropediatrician (57.97%), followed by the child psychiatrist (34.78%) and the primary care pediatrician (5.31%). The lack of a psycho-pedagogical study by the school (49.79%), followed by the lack of time in the consultation (29.11%), was cited as the greatest difficulty in the initial assessment of children with suspected ADHD. Concerning the difficulties in the follow-up, the biggest complaint was the lack of coordination between professionals, the school and parents. And, lastly, regarding the type of treatment use, most patients were on prolonged-release methylphenidate, a stable percentage using immediate release methylphenidate as a single or combined treatment, and in a lower range was the use of clonidine and atomoxetine, and an incipient use of lisdexamphetamine were observed. 80% of the patient showed adherence to pharmacological treatment after one year. CONCLUSIONS: It is necessary to advance in the training and continuous education of our neuropediatric specialists in ADHD and to homogenize the clinical practice and coordination with education system in the Spanish territory.


TITLE: Estado actual del enfoque del trastorno por deficit de atencion/hiperactividad en neuropediatria.Objetivo. Conocer el estado actual del enfoque del trastorno por deficit de atencion/hiperactividad (TDAH) entre los neuropediatras. Sujetos y metodos. Se realizo una encuesta telematica que recogia informacion preliminar sobre el interes, las dificultades en el manejo y el tratamiento del TDAH a los 437 socios de la Sociedad Española de Neurologia Pediatrica. Resultados. Respondio un 32,49% de los cuestionarios enviados, con una importante variabilidad geografica. El 97,89% afirmo que el 50% de sus consultas eran niños con trastornos de aprendizaje y TDAH. Respecto a quien iniciaba el tratamiento para el TDAH en su area, la mayoria contesto que el neuropediatra (57,97%), seguido del psiquiatra infantil (34,78%) y del pediatra de atencion primaria (5,31%). Respecto a las mayores dificultades para la valoracion inicial de los niños con sospecha de TDAH, se citaron la falta de un estudio psicopedagogico por parte de la escuela (49,79%), seguido de la falta de tiempo en la consulta (29,11%). Sobre las dificultades en el seguimiento, la mayor queja se produjo por la falta de coordinacion entre los profesionales, la escuela y los padres. Respecto a la medicacion, la mayoria de los pacientes se encontraba en tratamiento con algun tipo de metilfenidato de liberacion prolongada, un porcentaje estable utilizaba metilfenidato de liberacion inmediata como tratamiento unico o combinado, y se observo en un rango inferior el uso de clonidina y atomoxetina, y un incipiente uso de lisdexanfetamina. La adhesion al tratamiento farmacologico al año fue alrededor del 80%. Conclusiones. Es necesario avanzar en la capacitacion y educacion continua de nuestros especialistas neuropediatricos en el manejo del TDAH, y en homogeneizar la practica clinica y la coordinacion con educacion en el territorio español.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/terapia , Criança , Humanos , Neurologia , Pediatria , Padrões de Prática Médica
10.
Methods Inf Med ; 52(2): 137-47, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23450342

RESUMO

OBJECTIVES: The INHERITANCE project, funded by the European Commission, is aimed at studying genetic or inherited Dilated cardiomyopathies (DCM) and at understanding the impact and management of the disease within families that suffer from heart conditions that are caused by DCMs. The biomedical informatics research activity of the project aims at implementing information technology solutions to support the project team in the different phases of their research, in particular in genes screening prioritization and new gene-disease association discovery. METHODS: In order to manage the huge quantity of scientific, clinical and patient data generated by the project several advanced biomedical informatics tools have been developed. The paper describes a layer of software instruments to support translation of the results of the project in clinical practice as well as to support the scientific discovery process. This layer includes data warehousing, intelligent querying of the phenotype data, integrated search of biological data and knowledge repositories, text mining of the relevant literature, and case based reasoning. RESULTS: At the moment, a set of 1,394 patients and 9,784 observations has been stored into the INHERITANCE data warehouse. The literature database contains more than 1,100,000 articles retrieved from the Pubmed and generically related to cardiac diseases, already analyzed for extracting medical concepts and genes. CONCLUSIONS: After two years of project the data warehouse has been completely set up and the text mining tools for automatic literature analysis have been implemented and tested. A first prototype of the decision support tool for knowledge discovery and gene prioritization is available, but a more complete release is still under development.


Assuntos
Cardiomiopatias/genética , Informática Médica , Pesquisa Translacional Biomédica , Europa (Continente) , Humanos , Software
11.
Rev Neurol ; 55(10): 609-18, 2012 Nov 16.
Artigo em Espanhol | MEDLINE | ID: mdl-23143962

RESUMO

AIMS: The purpose of this study is to update the information available on the main group of genes that have been related with a susceptibility to attention deficit hyperactivity disorder (ADHD) or with the pharmacological response to different drugs used in the treatment of ADHD, in a number of different association and meta-analysis studies. DEVELOPMENT: Different studies have provided evidence of the importance of the genetic load in the susceptibility to ADHD. The work carried out to date point to genes in the dopaminergic system, such as the gene that codes for the dopamine transporter (DAT1 or SLC6A3) and for the dopamine receptor D4 (DRD4); in the noradrenergic system, like the gene coding for the adrenergic alpha-2A receptor (ADRA2A), the COMT gene, which codes for the enzyme catechol-O-methyltransferase and the gene that codes for latrophilin 3 (LPHN3), as genes that are candidates for playing a part in the susceptibility to ADHD, and being involved in the pharmacological response as well as in the risk of presenting associated behavioural disorders. On the other hand, the genes involved in regulating the metabolism of the drugs used in the treatment of ADHD, such as the gene CYP2D6 and gene CES1, play a role in the efficiency and tolerance of these psycho-pharmaceuticals. CONCLUSIONS: Although in recent years there has been an increase in the number of pharmacogenetic studies conducted on ADHD, findings differ significantly from one study to another. Integrating and meta-analytical studies are needed to be able to develop a more personalised treatment for ADHD.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/genética , Proteínas da Membrana Plasmática de Transporte de Dopamina/genética , Humanos
12.
Methods Inf Med ; 51(4): 341-7, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22773076

RESUMO

OBJECTIVE: The assessment of the developmental potential of stem cells is a crucial step towards their clinical application in regenerative medicine. It has been demonstrated that genome-wide expression profiles can predict the cellular differentiation stage by means of dimensionality reduction methods. Here we show that these techniques can be further strengthened to support decision making with i) a novel strategy for gene selection; ii) methods for combining the evidence from multiple data sets. METHODS: We propose to exploit dimensionality reduction methods for the selection of genes specifically activated in different stages of differentiation. To obtain an integrated predictive model, the expression values of the selected genes from multiple data sets are combined. We investigated distinct approaches that either aggregate data sets or use learning ensembles. RESULTS: We analyzed the performance of the proposed methods on six publicly available data sets. The selection procedure identified a reduced subset of genes whose expression values gave rise to an accurate stage prediction. The assessment of predictive accuracy demonstrated a high quality of predictions for most of the data integration methods presented. CONCLUSION: The experimental results highlighted the main potentials of proposed approaches. These include the ability to predict the true staging by combining multiple training data sets when this could not be inferred from a single data source, and to focus the analysis on a reduced list of genes of similar predictive performance.


Assuntos
Técnicas de Apoio para a Decisão , Informática Médica/métodos , Modelos Estatísticos , Células-Tronco Pluripotentes , Medicina Regenerativa/métodos , Algoritmos , Expressão Gênica , Humanos , Análise de Componente Principal/métodos
13.
J Thromb Haemost ; 10(5): 907-15, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22372922

RESUMO

BACKGROUND: Platelets are specialized cells, produced by megakaryocytes (MKs) in the bone marrow, which represent the first defense against hemorrhage. There are many diseases where platelet production or function is impaired, with severe consequences for patients. Therefore, new insights into the process of MK differentiation and platelet formation would have a major impact on both basic and clinical research. OBJECTIVES: Embryonic stem (ES) cells represent a good in vitro model to study the differentiation of MKs, with the possibility of being genetically engineered and constituting an unlimited source of MKs. However, lack of knowledge about the molecular identity of ES-derived MKs (ES-MKs) may prevent any further development and application of this model. METHODS: This paper presents the first comprehensive transcriptional and proteome profile analyses of mouse ES-MKs in comparison with MKs derived from mouse fetal liver progenitors (FL-MKs). RESULTS: In ES-MKs we found a down-regulation of cytoskeleton proteins, specific transcription factors and membrane receptors at both transcriptional and protein levels. At the phenotypic level, this molecular blueprint was displayed by ES-MKs' lower polyploidy, lower nuclear/cytoplasm ratio and reduced capacity to form proplatelets and releasing platelets. CONCLUSIONS: Overall our data demonstrate that ES-MKs represent a useful model to clarify many aspects of both MK physiology and pathological conditions where impaired MK functions are related to defective MK development, as in inherited thrombocytopenias and primary myelofibrosis.


Assuntos
Diferenciação Celular/genética , Linhagem da Célula/genética , Células-Tronco Embrionárias/metabolismo , Regulação da Expressão Gênica no Desenvolvimento , Genômica , Megacariócitos/metabolismo , Proteômica , Animais , Forma Celular/genética , Células Cultivadas , Técnicas de Cocultura , Marcadores Genéticos , Genômica/métodos , Genótipo , Fígado/embriologia , Fígado/metabolismo , Camundongos , Fenótipo , Ploidias , Proteômica/métodos , Trombopoese/genética
14.
Psychol Med ; 41(4): 861-71, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-20522277

RESUMO

BACKGROUND: Twin and sibling studies have identified specific cognitive phenotypes that may mediate the association between genes and the clinical symptoms of attention deficit hyperactivity disorder (ADHD). ADHD is also associated with lower IQ scores. We aimed to investigate whether the familial association between measures of cognitive performance and the clinical diagnosis of ADHD is mediated through shared familial influences with IQ. METHOD: Multivariate familial models were run on data from 1265 individuals aged 6-18 years, comprising 920 participants from ADHD sibling pairs and 345 control participants. Cognitive assessments included a four-choice reaction time (RT) task, a go/no-go task, a choice-delay task and an IQ assessment. The analyses focused on the cognitive variables of mean RT (MRT), RT variability (RTV), commission errors (CE), omission errors (OE) and choice impulsivity (CI). RESULTS: Significant familial association (rF) was confirmed between cognitive performance and both ADHD (rF=0.41-0.71) and IQ (rF=-0.25 to -0.49). The association between ADHD and cognitive performance was largely independent (80-87%) of any contribution from etiological factors shared with IQ. The exception was for CI, where 49% of the overlap could be accounted for by the familial variance underlying IQ. CONCLUSIONS: The aetiological factors underlying lower IQ in ADHD seem to be distinct from those between ADHD and RT/error measures. This suggests that lower IQ does not account for the key cognitive impairments observed in ADHD. The results have implications for molecular genetic studies designed to identify genes involved in ADHD.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/genética , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Transtornos Cognitivos/genética , Transtornos Cognitivos/psicologia , Inteligência/genética , Testes Neuropsicológicos/estatística & dados numéricos , Fenótipo , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Criança , Comportamento de Escolha , Transtornos Cognitivos/diagnóstico , Europa (Continente) , Feminino , Humanos , Inibição Psicológica , Controle Interno-Externo , Masculino , Análise Multivariada , Determinação da Personalidade/estatística & dados numéricos , Psicometria , Tempo de Reação/genética , Recompensa
16.
Rev Neurol ; 50 Suppl 3: S77-84, 2010 Mar 03.
Artigo em Espanhol | MEDLINE | ID: mdl-20200851

RESUMO

INTRODUCTION: Autism spectrum disorders make up a group of neurodevelopmental disorders that globally affect different higher brain functions in the individual, such as intelligence, the capacity to use language and social interaction. Today, although there is still no curative treatment for autism, there are a number of non pharmacological interventions that can modify the poor prognosis that is generally associated to this type of disorders. AIM: To briefly review the different approaches to the neuro rehabilitation of patients suffering from autism spectrum disorders, which are usually known as methods of intervention. DEVELOPMENT: From the categorical point of view, three types of methods of intervention can be distinguished, depending on whether the orientation is psychodynamic, biomedical or psycho educational. It is difficult to compare the results of the different methods of intervention, but researchers have identified several common elements that they should have if they are to be effective. At present, the psycho educational methods are preferred, since they are the only ones that, to date, have proved to be effective in research studies. CONCLUSIONS: Early intervention by diagnostic and early care centres, with the use of mixed models of psycho educational intervention that nevertheless also include an important percentage of behavioural elements, has proved to be capable of modifying the course of patients with autism spectrum disorders and is currently the most suitable approach.


Assuntos
Transtorno Autístico/reabilitação , Transtorno Autístico/terapia , Transtorno Autístico/diagnóstico , Transtorno Autístico/fisiopatologia , Criança , Terapias Complementares , Intervenção Educacional Precoce , Educação Especial , Humanos , Relações Interpessoais , Prognóstico , Comportamento Social , Apoio Social
17.
Rev. neurol. (Ed. impr.) ; 50(supl.3): s79-s84, 3 mar., 2010. tab
Artigo em Espanhol | IBECS | ID: ibc-86880

RESUMO

Introducción. Los trastornos del espectro autista constituyen un grupo de alteraciones del neurodesarrollo que afectan de manera global distintas funciones cerebrales superiores del individuo, como la inteligencia, la capacidad del lenguaje y la interacción social. Aunque no existe hoy día ningún tratamiento curativo del autismo, sí hay diversas intervenciones no farmacológicas que pueden modificar el mal pronóstico generalmente asociado a este tipo de trastornos. Objetivo. Revisar de manera sucinta las diferentes aproximaciones para la neurorrehabilitación de los pacientes afectados de trastornos del espectro autista, lo que se conoce habitualmente como métodos de intervención.Desarrollo. Desde un punto de vista categórico, se pueden distinguir tres tipos de métodos de intervención, según que la orientación sea psicodinámica, biomédica o psicoeducativa. Existen dificultades para comparar los resultados de los distintos métodos de intervención, pero se han identificado unos elementos comunes que deberían tener para resultar eficaces. Actualmente se prefieren los métodos psicoeducativos, pues son los únicos que han demostrado eficacia en losestudios de investigación. Conclusiones. La intervención precoz, en el contexto de los centros de diagnóstico y atención temprana, dentro de modelosde intervención psicoeducativa mixtos, aunque con gran presencia de elementos conductuales, ha demostrado podermodificar la evolución de los pacientes con trastornos del espectro autista y constituye hoy día el abordaje más indicado (AU)


Introduction. Autism spectrum disorders make up a group of neurodevelopmental disorders that globally affect differenthigher brain functions in the individual, such as intelligence, the capacity to use language and social interaction. Today,although there is still no curative treatment for autism, there are a number of non pharmacological interventions that can modify the poor prognosis that is generally associated to this type of disorders. Aim. To briefly review the different approaches to the neuro rehabilitation of patients suffering from autism spectrum disorders, which are usually known as methods of intervention. Development. From the categorical point of view, three types of methods of intervention can be distinguished, dependingon whether the orientation is psychodynamic, biomedical or psycho educational. It is difficult to compare the results of the different methods of intervention, but researchers have identified several common elements that they should have if they are to be effective. At present, the psycho educational methods are preferred, since they are the only ones that, to date,have proved to be effective in research studies. Conclusions. Early intervention by diagnostic and early care centres, with the use of mixed models of psycho educational intervention that nevertheless also include an important percentage of behavioural elements, has proved to be capable of modifying the course of patients with autism spectrum disorders and is currently the most suitable approach (AU)


Assuntos
Humanos , Masculino , Feminino , Criança , Transtorno Autístico/reabilitação , Equipe de Assistência ao Paciente/tendências , Terapia Comportamental/métodos , Avaliação de Resultado de Intervenções Terapêuticas , Terapia Familiar/tendências , Diagnóstico Precoce
18.
Rev Neurol ; 48 Suppl 2: S47-52, 2009 Feb 27.
Artigo em Espanhol | MEDLINE | ID: mdl-19280574

RESUMO

INTRODUCTION: Autism spectrum disorder (ASD) is a developmental disorder that is characterised by qualitative deficiencies in social interaction and in communication, behaviour that is characterised by repetitive stereotyped patterns, and a restricted repertoire of interests and activities. DEVELOPMENT AND CONCLUSIONS: Early detection and diagnosis of this disorder by means of neuropaediatric techniques and procedures plays a decisive role in being able to set up an interdisciplinary therapeutic approach, in which specific early intervention programmes are noted for their effectiveness. The aim of these programmes is to attenuate or eliminate the alterations produced by ASD from the earliest stages of childhood development. But, in addition to attending to the child, interdisciplinary early intervention teams also work with the family and the environment the child lives in. This enables them to implement a joint response that allows for substantial improvements in the competencies that the child can acquire, as well as in the welfare and quality of life of the child and his or her family.


Assuntos
Transtorno Autístico/diagnóstico , Transtorno Autístico/terapia , Diagnóstico Precoce , Intervenção Educacional Precoce , Transtorno Autístico/fisiopatologia , Criança , Família , Humanos , Qualidade de Vida , Comportamento Social
19.
Rev. neurol. (Ed. impr.) ; 48(supl.2): 1-1, 27 feb., 2009.
Artigo em Espanhol | IBECS | ID: ibc-94967

RESUMO

No disponible


No disponible


Assuntos
Humanos , Neuropsicologia/tendências , Pediatria/tendências , Neurologia/tendências , Cursos
20.
Rev. neurol. (Ed. impr.) ; 48(supl.2): 47-52, 27 feb., 2009.
Artigo em Espanhol | IBECS | ID: ibc-94975

RESUMO

Introducción. El trastorno de espectro autista (TEA) es una alteración del desarrollo que se caracteriza por deficiencias cualitativas en la interacción social y en la comunicación, comportamiento caracterizado por patrones repetitivos y estereotipados, y un repertorio restrictivo de intereses y actividades. Desarrollo y conclusiones. La detección y el diagnóstico precoz de este trastorno mediante técnicas y procedimientos neuropediátricos es un factor decisivo para plantear el abordaje terapéutico interdisciplinar, en el que destacan por su eficacia los programas específicos de atención temprana. Estos programas tienen por finalidad atenuar o eliminar las alteraciones que produce el TEA desde las primeras etapas del desarrollo infantil. Pero, además de atender al niño, los equipos interdisciplinares de atención temprana también inciden sobre la familia y el entorno en el que vive el niño, para articular una respuesta conjunta que posibilite mejoras sustanciales en las competencias que el niño pueda adquirir y en el bienestar y calidad de vida del niño y de su familia (AU)


Introduction. Autism spectrum disorder (ASD) is a developmental disorder that is characterised by qualitative deficiencies in social interaction and in communication, behaviour that is characterised by repetitive stereotyped patterns, and a restricted repertoire of interests and activities. Development and conclusions. Early detection and diagnosis of this disorder by means of neuropaediatric techniques and procedures plays a decisive role in being able to set up an interdisciplinary therapeutic approach, in which specific early intervention programmes are noted for their effectiveness. The aim of these programmes is to attenuate or eliminate the alterations produced by ASD from the earliest stages of childhood development. But, in addition to attending to the child, interdisciplinary early intervention teams also work with the family and the environment the child lives in. This enables them to implement a joint response that allows for substantial improvements in the competencies that the child can acquire, as well as in the welfare and quality of life of the child and his or her family (AU)


Assuntos
Humanos , Transtorno Autístico/terapia , Programas de Rastreamento/métodos , Avaliação de Resultado de Intervenções Terapêuticas , Diagnóstico Precoce , Equipe de Assistência ao Paciente , Relações Profissional-Família
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...