Evaluation of CSF Neurotransmitters and Folate in 25 Patients with Rett Disorder and Effects of Treatment

Background: Rett disorder (RD) is a progressive neurodevelopmental entity caused by mutations in the MECP2 gene. It has been postulated that there are alterations in the levels of certain neurotransmitters and folate in the pathogenesis of this disease. Here we re-evaluated this hypothesis. Patients and Methods: We evaluated CSF folate, biogenic amines and pterines in 25 RD patients. Treatment with oral folinic acid was started in those cases with low folate. Patients were clinically evaluated and videotaped up to 6 months after therapy. Results: CSF folate was below the reference values in 32% of the patients. Six months after treatment no clinical improvement was observed. Three of the four patients with the R294X mutation had increased levels of a dopamine metabolite associated to a particular phenotype. Three patients had low levels of a serotonin metabolite. Two of them were treated with fluoxetine and one showed clinical improvement. No association was observed between CSF folate and these metabolites, after adjusting for the patients age and neopterin levels. Conclusion: Our results support that folinic acid supplementation has no significant effects on the course of the disease. We report discrete and novel neurotransmitter abnormalities that may contribute to the pathogenesis of RD highlighting the need for further studies on CSF neurotransmitters in clinically and genetically well characterized patients.

Autism Spectrum Disorder Secondary to Enterovirus Encephalitis

Millions of children are infected by enteroviruses each year, usually exhibiting only mild symptoms. Nevertheless, these viruses are also associated with severe and life-threatening infections, such as meningitis and encephalitis. We describe a 32-month-old patient with enteroviral encephalitis confirmed by polymerase chain reaction in cerebrospinal fluid, with unfavorable clinical course with marked developmental regression, autistic features, persistent stereotypes and aphasia. She experienced slow clinical improvement, with mild residual neurologic and developmental deficits at follow-up. Viral central nervous system infections in early childhood have been associated with autism spectrum disorders but the underlying mechanisms are still poorly understood. This case report is significant in presenting a case of developmental regression with autistic features and loss of language improving on follow-up. To our knowledge, this is the first published report of enterovirus encephalitis leading to an autism spectrum disorder.

A Case of Late-Diagnosed Ovotesticular Disorder of Sex Development

We report acase of!ovotesticular disorder of sex development!(DSD) with ambiguous genitalia, 46XX presenting the clinical, laboratory, imaging and operative findings and highlighting the pertinent features of this case. Results of hormonal, genetic testing and histopathology findings are reviewed. Diagnosis of true hermaphroditism is well defined and the condition can be recognized even prenatally. Conservative gonadal surgery is the procedure of choice after the diagnosis of true hermaphroditism, if the risk of a gonadal malignancy is low. Continued follow-up is necessary because of the multiple psychological, gynecological and urological problems encountered postpubertally by these patients.

EDP InovCity pilot study proposal: A set-top box interface

A Work Project, presented as part of the requirements for the Award of a Masters Degree in Management from the NOVA – School of Business and Economics

Study and characterization of the ZnPc:C60/MoOx interface in organic solar cells by means of photoelectron spectroscopy

Dissertation to obtain the academic degree of Master in materials engineering submitted to the Faculty of science and engineering of Universidade Nova de Lisboa

User-centered design of the interface prototype of a business intelligence mobile application

Dissertação para obtenção do Grau de Mestre em Engenharia e Gestão Industrial

Brain-computer interface (BCI): a methodological proposal to assess the impacts of medical applications in 2022

Based on the report for “Project IV” unit of the PhD programme on Technology Assessment (Doctoral Conference) at Universidade Nova de Lisboa (December 2011). This thesis research has the supervision of António Moniz (FCT-UNL and ITAS-KIT) and Armin Grunwald (Karlsruhe Institute of Technology-ITAS, Germany). Other members of the thesis committee are Mário Forjaz Secca (FCT-UNL) and Femke Nijboer (University of Twente, Netherlands).

Avatar modeling: a telepresence study with natural user interface

Dissertação para obtenção do Grau de Mestre em Engenharia Electrotécnica e de Computadores

Desenvolvimento de interface pessoamáquina para geração de sensações tácteis

Dissertação para obtenção do Grau de Mestre em Engenharia Biomédica

Interface para análise de dados cinemáticos tridimensionais da omoplata

Dissertação para obtenção do Grau de Mestre em Engenharia Biomédica

A piezoelectric based energy harvester interface for a CMOS wireless sensor IC

In this thesis a piezoelectric energy harvesting system, responsible for regulating the power output of a piezoelectric transducer subjected to ambient vibration, is designed to power an RF receiver with a 6 mW power consump-tion. The electrical characterisation of the chosen piezoelectric transducer is the starting point of the design, which subsequently presents a full-bridge cross-coupled rectifier that rectifies the AC output of the transducer and a low-dropout regulator responsible for delivering a constant voltage system output of 0.6 V, with low voltage ripple, which represents the receiver’s required sup-ply voltage. The circuit is designed using CMOS 130 nm UMC technology, and the system presents an inductorless architecture, with reduced area and cost. The electrical simulations run for the complete circuit lead to the conclusion that the proposed piezoelectric energy harvesting system is a plausible solution to power the RF receiver, provided that the chosen transducer is subjected to moderate levels of vibration.

Desenvolvimento de uma interface de visualização de conectividade cerebral usando realidade virtual e controlo por gestos

A presente dissertação foi desenvolvida em colaboração com o Instituto de Biofísica e Engenharia Biomédica(IBEB/FCUL)

EDP inovcity pilot study proposal: A set-top box interface

In this work I propose an additional test to be implemented in EDP’s residential electricity use feedback trials, under InovCity’s project scope. The proposed product to be tested consists of an interface between the smart meter and the television, through a set-top box. I provide a theoretical framework of the importance of feedback, an analysis of results from past studies involving smart metering, and a detailed description of my proposal. The results of a self-developed questionnaire related to the proposal and segmentation issues are also analyzed. Finally, general conclusions are drawn and potential future improvements and challenges are presented.

Impact of alcohol intoxication and withdrawal syndrome on social phobia and panic disorder in alcoholic inpatients

PURPOSE: To investigate the impact of alcohol intoxication and withdrawal on the course of social phobia and panic disorder. METHOD: A group of 41 alcoholic inpatients undergoing detoxification therapy were interviewed using the SCID-I (DSM-IV) and questions to detect fluctuations in the course of social phobia and panic disorder as a function of the different phases in alcohol dependence (intoxication, withdrawal, and lucid interval). RESULTS: Only 1 (2.4%) patient presented panic disorder throughout life, and 9 (21.9%) had panic attacks during alcohol intoxication or during the withdrawal syndrome. Sixteen (39%) alcoholic patients showed social phobia with onset prior to drug use. However, drinking eventually became unable to alleviate social phobia symptoms or worsened such symptoms in 31.2% of social-phobic patients. While patients with social phobia reported a significant improvement in psychiatric symptoms during alcohol intoxication, patients experiencing panic attacks worsened significantly during intoxication. In the withdrawal phase, patients with social phobia tended to have more and more intense phobic symptoms. CONCLUSION: Our findings indicate that the impact of alcohol intoxication is different for social phobia as compared to panic disorder, at first decreasing the social-phobic symptoms but later aggravating them. In panic disorder, the impact of intoxication by alcohol is more harmful, at least in the short term.

Adverse life events and coping skills in panic disorder

Research literature and clinical experience shows that panic patients are often able to identify stressors that preceded the onset of their first attacks. In this study we investigated the relation between life events, coping skills, and panic disorder. METHODS: Forty-tree panic patients were compared with 29 control subjects regarding the occurrence and the impact of stressful life events in a 1-year period preceding the onset of panic attacks using the Social Readjustment Rating Scale and London Life Event and Difficulty Schedule. Coping skills were measured using the Ways of Coping Questionnaire. RESULTS: No differences were observed between panic patients and controls regarding the number of reported stressful life events in the previous year. Panic patients compared to controls reported loss of social support as the most meaningful class of events significantly more often. In response to stressful situations, panic patients more often used coping skills judged as ineffective. CONCLUSIONS: The present study suggests that the type of life event and the coping skills used in response to them, more than the occurrence of stressful events itself, may be associated with the onset of panic disorder.