A música na socialização de crianças com perturbação do espectro do autismo: perspetivas de educadores e professores

Projeto de Investigação realizado no âmbito da Unidade Curricular de Seminário de Projeto – Problemas Cognitivos e Motores

Gene-environment interactions in Autism Spectrum Disorders (ASD)

Spectrum Disorder (ASD), is a heterogeneous neurodevelopmental disorder with na estimated global prevalence rate of 17:10000, and a male to female ratio of 4:1. Patients with ASD presente language and communication difficulties and stereotyped behaviours. Comorbidity with other disorders, such as Intelectual Disability, Fragile-X syndrome (FXS) epilepsy and tuberous sclerosis frequently occurs. ASD presents amultifactorial etiopathology, and genetic factos alone are not suficiente to explain how the syndrome arises, with recente studies establishing ASD heritability at approximately 50%. Pre-, peri- and post-natal exposure to toxic environmental factos has been implicated in the development of ASD. Involvement of epigenetic regulatory mechanisms has been suggested, supported by the occurrence of autistic symptoms in patients with disorders aris ing from epigenetic mutations, such as FXS. A polygenic and epistatic model is a strong hypothesis to explain ASD. The main goal of this project is to identify specific exposure patterns to environmental toxicants in children diagnosed with ASD and integrate the results with genetic and epigenetic data.

Dietary program impact on biochemical markers in diabetics: systematic review

Diabetes mellitus is a chronic disorder with major expansion worldwide. It’s estimated that the number of diabetes sufferers increase rapidly in the coming decades due to the population ageing (Ena,2016;IDF,2015). The nutrition intervention emphasizing the promotion of healthy eating has been shown to be an importante point in Diabetes Mellitus treatment since it fosters a better glycemic control and lipid profile (ADA2016).

Perturbação de stress pós-traumático na pessoa com incapacidade permanente aquirida em acidentes de viação

Dissertação de Mestrado apresentada ao Instituto Superior de Psicologia Aplicada para obtenção de grau de Mestre na especialidade de Psicologia Clínica.

San Juan Damasceno, ‘Diálogo entre un sarraceno y un cristiano’

El presente trabajo ofrece el texto griego del Dialogo de un Sarraceno y un cristiano con una traducción española. En la introducción tratamos de los autores posibles, los contenidos y los principales asuntos en discusión en el seno del Islam, así como generalidades sobre el género literario y el griego del escrito. Por último se ensaya una posible explicación del desorden temporal (que oscila sin aparente sentido entre el aoristo y el presente), partiendo de la moderna teoría lingüística conocida como teoría de la perfectividad.

O novo Código florestal e a regularização do passivo ambiental dos imóveis rurais : o caso de Querência

Dissertação (mestrado)—Universidade de Brasília, Centro de Desenvolvimento Sustentável, Programa de Pós-Graduação em Desenvolvimento Sustentável, 2016.

Psychiatric Comorbidities in Restless Legs Syndrome.

Restless legs syndrome (RLS) is a neurological sleep disorder with frequent (39%) coexisting psychiatric comorbidities. Patients with any psychiatric comorbidity had fewer periodic leg movements in sleep. Psychiatric disorders should be taken into account in patients with RLS.

Evaluation of Calretinin as a New Marker in the Diagnosis of Hirschsprung Disease

Background: Hirschsprung’s disease (HD) is a congenital intestinal motility disorder with absence of ganglion cells in the colonic wall. Diagnosis of the disease is mainly based on the identification of the lack of ganglion cells in the pathology sections of the colon which is very difficult and time consuming and also needs several serial cut sections. There are many proposed markers in this field in the literature but none of them has been satisfactory. Calretinin immunohistochemistry (IHC) has been introduced as a new diagnostic marker to overcome the problems in diagnosis of this disease about 5 years ago. However there are few studies regarding the benefits and pitfalls of this marker. Objectives: The aim of this study is to determine the diagnostic value of calretinin IHC in detecting aganglionosis (HD). Patients and Methods: 27 HD patients and 28 non-Hirschsprung’s disease (NHD) patients were collected in a prospective study and calretinin IHC was performed on 31 aganglionic and 51 normoganglionic full wall thickness sections of colectomies (some of the cases had more than 1 section). The IHC slides were evaluated by two pathologists and the diagnostic value was calculated in comparison with gold standard which is the presence or absence of ganglion cells in serial Hematoxylin and Eosin (HE) stained sections of the colectomies. Results: There was great concordance between the final diagnosis of both pathologists and gold standard (k > 0.9). Calretinin immunostaining showed 100% specificity and positive predictive value and more than 90% sensitivity and negative predictive value. High agreement was present between the two pathologists (k > 0.9). Conclusions: Calretinin IHC is a very convenient, useful and valuable method to demonstrate aganglionosis in HD patients. Loss of calretinin immunostaining in lamina propria and submucosa is characteristic of HD.

Studies on the Hippo Pathway: new insights about a multifaceted signalling

The Hippo pathway is a well-known master regulator of cell growth and proliferation. Many studies have shed light on the centrality of Hippo functions, as this signalling is able to respond to different stimuli and translate them into distinct transcriptional outputs. Therefore, it is clearly implicated in a number of important processes, which alteration has consequences on the correct specification of the single cell, as well as the whole tissue. Even if the core of the signalling has been extensively characterized, it remains unclear which are the “co-workers” that permit the Hippo pathway to answer to so many different stimuli and act as a coordinator of the growth/differentiation balance. Taking advantage of the Drosophila model, which has witnessed most of the discoveries on this signalling pathway, this thesis aims to add some new knowledge about the Hippo pathway molecular mechanisms in different contexts, from development to disease. In the first part I studied the dynamics of the Hippo core kinase protein Warts in the development of the pupal eye. I have found out a critical time point in which the expression and the localization of Warts change suddenly, suggesting the intervention of upstream regulators modulating its activity in an extremely narrow time window. The second goal was investigating the role of the Hippo pathway in the neurodegenerative Gaucher disease. Indeed, I have produced some preliminary results which demonstrate a growth deficit associated with a massive reduction of some Yki targets, supporting a Hyper-Hippo condition underlying this neuropathic syndrome. Finally, I have evaluated the transcription factor Orthodenticle as a co-factor of Yorkie in driving tissue overgrowth, and my findings support a model of interaction of these two molecules based on Yki conformational changes. Altogether, my results lay the foundation for new important studies on the molecular mechanisms ruling Hippo pathway activity.

Developmental disorder associated with increased cellular nucleotidase activity

Four unrelated patients are described with a syndrome that included developmental delay, seizures, ataxia, recurrent infections, severe language deficit, and an unusual behavioral phenotype characterized by hyperactivity, short attention span, and poor social interaction. These manifestations appeared within the first few years of life. Each patient displayed abnormalities on EEG. No unusual metabolites were found in plasma or urine, and metabolic testing was normal except for persistent hypouricosuria. Investigation of purine and pyrimidine metabolism in cultured fibroblasts derived from these patients showed normal incorporation of purine bases into nucleotides but decreased incorporation of uridine. De novo synthesis of purines and cellular phosphoribosyl pyrophosphate content also were moderately decreased. The distribution of incorporated purines and pyrimidines did not reveal a pattern suggestive of a deficient enzyme activity. Assay of individual enzymes in fibroblast lysates showed no deficiencies. However, the activity of cytosolic 5′-nucleotidase was elevated 6- to 10-fold. Based on the possibility that the observed increased catabolic activity and decreased pyrimidine salvage might be causing a deficiency of pyrimidine nucleotides, the patients were treated with oral pyrimidine nucleoside or nucleotide compounds. All patients showed remarkable improvement in speech and behavior as well as decreased seizure activity and frequency of infections. A double-blind placebo trial was undertaken to ascertain the efficacy of this supplementation regimen. Upon replacement of the supplements with placebo, all patients showed rapid regression to their pretreatment states. These observations suggest that increased nucleotide catabolism is related to the symptoms of these patients, and that the effects of this increased catabolism are reversed by administration of uridine.

Supporting children with attention dificit hyperactivity.

Recurso para padres, profesores y todo el personal de la escuela que trata con jóvenes con trastorno de déficit de atención e hiperactividad (ADHD), o que presentan un tipo de comportamiento ADHD. Su objetivo es desmitificar el ADHD, permitir entender un poco más sobre este tipo de personalidad, facilitar a estos alumnos una mayor comprensión de su propio estado, proporcionar un método para adultos que trabajan con estos jóvenes y mostrar que si en personas con ADHD se dan las condiciones óptimas para su desarrollo pueden convertirse en los miembros más productivos e innovadores de nuestra sociedad. Contiene actividades y ejercicios para alumnos diagnosticados, o que presenta muchas de las características de esta disfunción. Incluye secciones sobre tratamiento médico y alternativas para el tratamiento, ejercicios de muchas disciplinas, por ejemplo yoga terapia de arte, diseñadas para mejorar la organización y la concentración.

More attention less deficit : success strategies for adults with ADHD.

Manual que ofrece numerosas recomendaciones para hacer frente a los múltiples síntomas del bajo auto-control y gestión del tiempo, la falta de atención y desorganización, y el comportamiento impulsivo y descuidado que afecta a casi todos los ámbitos de las principales actividades de la vida de los adultos con TDAH. Describe cómo el cerebro de la persona con Trastorno por Déficit de Atención e Hiperactividad (TDAH) procesa la información y cómo se producen los típicos desafíos que estas personas experimentan, así como por qué ciertas estrategias son efectivas y otras no. Explica detalladamente el tratamiento, tipo de medicamentos, terapia y entrenamiento, además de los tratamientos alternativos. Proporciona una amplia colección de estrategias prácticas en las áreas de la autoestima, trabajo, relaciones, amistad, paternidad y la vida cotidiana. Incluye la gestión de tiempo para organizarse. Está estructurado en ciento ochenta y nueve artículos independientes entre si que tratan sobre un tema en particular.

Attention disengagement in children with developmental coordination disorder

Purpose. Previous research has shown that children with Developmental Coordination Disorder (DCD) have poorly developed strategies for allocating attention. This study examines the allocation of attention and integration of visuo-spatial and motor systems in children with DCD in a motor (look+hit condition) and a motor-free (look condition) task. Method. Three groups of control children were used to compare the performance of a group of children with DCD. Children were seated in front of a central fixation point and six peripheral targets, and were asked to look at or hit targets when illuminated. Saccade/hand movement latencies were measured on gap trials (gap between fixation offset and target onset) and overlap trials (fixation offset and target onset overlapped). Results. DCD children were not slower than controls to disengage attention during the look condition. However, during the look+hit condition the DCD children showed a prolonged disengagement period, which was also seen in younger control children. Conclusions. The results suggest that DCD children may have deficits in the allocation of attention for action, in both the speed of onset of a movement and the accuracy of the movement. It is concluded that attention disengagement may contribute to problems of visuo-motor integration in DCD.

Further evidence for a deficit in switching attention in schizophrenia

In this study, sustained, selective, divided, and switching attention, and reloading of working memory were investigated in schizophrenia by using a newly developed Visual Attention Battery (VAB). Twenty-four outpatients with schizophrenia and 24 control participants were studied using the VAB. Performance on VAB components was correlated with performance of standard tests. Patients with schizophrenia were significantly impaired on VAB tasks that required switching of attention and reloading of working memory but had normal performance on tasks involving sustained attention or attention to multiple stimulus features. Switching attention and reloading of working memory were highly correlated with Trails (B - A) score for patients. The decline in performance on the switching-attention task in patients with schizophrenia met criteria for a differential deficit in switching attention. Future research should examine the neurophysiological basis of the switching deficit and its sensitivity and specificity to schizophrenia.