Spinal Muscular Atrophy

Introdução: A Atrofia Muscular Espinhal (AME) é o nome dado a uma doença neuromuscular específica caracterizada pela degeneração dos neurónios motores medulares, condicionando atrofia e fraqueza muscular progressivas. É determinada pela alteração do gene Survival Motor Neuron-1 (SMN1), localizado no braço longo do cromossoma cinco. Uma cópia quase idêntica do gene SMN1, chamada SMN2, modula a gravidade da doença. A AME repercute-se a nível de vários órgãos e sistemas, envolvendo frequentemente os sistemas respiratório, osteoarticular e gastrintestinal. Estão descritos vários subtipos da doença, com base quer na idade do início dos sintomas quer na máxima aquisição motora alcançada. Objectivos: Estudar a população de doentes com o diagnóstico de AME (clínico e/ou genético) seguida na Consulta de Medicina Física e de Reabilitação (CMFR) do Hospital de Dona Estefânia (HDE) em Lisboa, no período de Janeiro de 2007 a Outubro de 2009. Métodos: Estudo retrospectivo com análise de parâmetros sócio-demográficos, clínica, exames complementares de diagnóstico, evolução e complicações da doença. Resultados e Discussão: A casuística é constituída por doze doentes, com idades compreendidas entre os 0 meses e os 21 anos de idade, tendo sete o diagnóstico de AME I, um AME II equatro o diagnóstico de AME tipo III. Verificou-se que a gravidade da doença era inversamente proporcional à idade no início dos sintomas e à função motora máxima atingida pelo indivíduo durante o seu desenvolvimento. Todos os doentes apresentaram infecções respiratórias recorrentes e nos óbitos ocorridos, verificou-se como causa de morte a insuficiência respiratória, complicada de paragem cardio-respiratória. As principais complicações ortopédicas foram o desenvolvimento de contracturas articulares das grandes articulações dos membros inferiores, bem como o desenvolvimento de escoliose. A disfagia foi a principal complicação gastrenterológica. Conclusão: A não aquisição de etapas do desenvolvimento motor está correlacionada com um agravamento do prognóstico funcional e vital

From data acquisition to data fusion : a comprehensive review and a roadmap for the identification of activities of daily living using mobile devices

This paper focuses on the research on the state of the art for sensor fusion techniques, applied to the sensors embedded in mobile devices, as a means to help identify the mobile device user’s daily activities. Sensor data fusion techniques are used to consolidate the data collected from several sensors, increasing the reliability of the algorithms for the identification of the different activities. However, mobile devices have several constraints, e.g., low memory, low battery life and low processing power, and some data fusion techniques are not suited to this scenario. The main purpose of this paper is to present an overview of the state of the art to identify examples of sensor data fusion techniques that can be applied to the sensors available in mobile devices aiming to identify activities of daily living (ADLs)

Data Fusion on Motion and Magnetic Sensors embedded on Mobile Devices for the Identification of Activities of Daily Living

Several types of sensors have been available in off-the-shelf mobile devices, including motion, magnetic, vision, acoustic, and location sensors. This paper focuses on the fusion of the data acquired from motion and magnetic sensors, i.e., accelerometer, gyroscope and magnetometer sensors, for the recognition of Activities of Daily Living (ADL) using pattern recognition techniques. The system developed in this study includes data acquisition, data processing, data fusion, and artificial intelligence methods. Artificial Neural Networks (ANN) are included in artificial intelligence methods, which are used in this study for the recognition of ADL. The purpose of this study is the creation of a new method using ANN for the identification of ADL, comparing three types of ANN, in order to achieve results with a reliable accuracy. The best accuracy was obtained with Deep Learning, which, after the application of the L2 regularization and normalization techniques on the sensors data, reports an accuracy of 89.51%.Comment: arXiv admin note: substantial text overlap with arXiv:1711.00124, arXiv:1711.00104; text overlap with arXiv:1711.0009

The effects of long-term chaetomellic acid a administration on renal function and oxidative stress in a rat model of renal mass reduction

This study aimed to evaluate the effect of chronic treatment with chaetomellic acid A (CAA) on oxidative stress and renal function in amodel of renalmass reduction. Methods.MaleWistar ratswere subjected to 5/6 nephrectomy (RMR) or sham-operated (SO). One week after surgery, rats have been divided into four experimental groups: RMR: RMR rats without treatment (n = 14); RMR + CAA: RMR rats treated with CAA (n = 13); SO: SO rats without treatment (n = 13); and SO + CAA: SO rats treated with CAA (n = 13). CAA was intraperitoneally administered in a dose of 0.23 μg/Kg three times a week for six months. Results. RMR was accompanied by a significant reduction in catalase and glutathione reductase (GR) activity (p < 0.05) and a decrease in reduced glutathione (GSH)/oxidized glutathione (GSSG) ratio. CAAadministration significantly increased catalase andGR activity (p < 0.05) and increased GSH/GSSG ratio, but no significant difference between the treated and nontreated groups was found in this ratio.No significant differences were found between theRMRgroups in any of the parameters of renal function.However, CAA administration slightly improves some parameters of renal function. Conclusions. These data suggest that CAA could attenuate 5/6 RMR-induced oxidative stress.The authors would like to thank Jos´e Miguel Lopez- Novoa for valuable comments and suggestions. This work is supported by European Investment Funds by FEDER/ COMPETE/POCI, Operational Competitiveness and Internationalization Programme, under Project POCI-01-0145- FEDER-006958, and National Funds by FCT, Portuguese Foundation for Science and Technology, under Project UID/AGR/04033/2013, and by European Investment Funds by FEDER/COMPETE/POCI, Operational Competitiveness and Internationalization Programme, under Project POCI- 01-0145-FEDER-016728, and National Funds by FCT, Portuguese Foundation for Science and Technology, under Project PTDC/DTP-DES/6077/2014.info:eu-repo/semantics/publishedVersio

A Research on the Classification and Applicability of the Mobile Health Applications

Mobile health applications are applied for different purposes. Healthcare professionals and other users can use this type of mobile applications for specific tasks, such as diagnosis, information, prevention, treatment, and communication. This paper presents an analysis of mobile health applications used by healthcare professionals and their patients. A secondary objective of this article is to evaluate the scientific validation of these mobile health applications and to verify if the results provided by these applications have an underlying sound scientific foundation. This study also analyzed literature references and the use of mobile health applications available in online application stores. In general, a large part of these mobile health applications provides information about scientific validation. However, some mobile health applications are not validated. Therefore, the main contribution of this paper is to provide a comprehensive analysis of the usability and user-perceived quality of mobile health applications and the challenges related to scientific validation of these mobile applications.This work was funded by FCT/MCTES through national funds and when applicable co-funded EU funds under the project UIDB/EEA/50008/2020 (Este trabalho é financiado pela FCT/MCTES através de fundos nacionais e quando aplicável cofinanciado por fundos comunitários no âmbito do projeto UIDB/EEA/50008/2020)

Chaetomellic acid A treatment improves oxidative stress in rats with renal mass reduction

Chaetomellic acid A (CA) is a potent and highly specific inhibitor of Ras farnesyl-protein transferase that has shown to decrease oxidative stress in rats with brain damage. Oxidative stress has been suggested to play an important role in the pathogenesis of chronic renal disease. Thus, the aim of this work was to evaluate the effect of chronic treatment with CA on oxidative stress in a model of renal mass reduction. Male Wistar rats were subjected to 5/6 nephrectomy (RMR) or sham-operated (SO). One week after surgery, rats have been placed in four experimental groups: RMR rats without treatment (n=12); RMR rats treated with CA (n=8); SO rats without treatment (n=13); SO rats treated with CA (n=13). CA was intraperitoneally administered in a dose of 0.23 μg/Kg three times a week for six months. To evaluate the effect of CA on renal redox potential, the status of oxidative stress in renal tissues was determined. RMR was accompanied by a significant reduction in catalase and glutathione reductase (GR) activity, and a decrease in reduced glutathione (GSH)/oxidized glutathione (GSSG) ratio. CA administration significantly increased catalase and GR activity (p<0.05), and increased GSH/GSSG ratio, but no significant difference between the treated and no treated groups was found in this ratio. These data suggest that CA can attenuate 5/6 RMR-induced oxidative stress and therefore, contribute to prevention of progressive renal failure in chronic renal disease

LONG-REMI : an AI-Based Technological Application to Promote Healthy Mental Longevity Grounded in Reminiscence Therapy

Altres ajuts: Fundación General CSIC (0551_PSL_6_E POCTEP)Reminiscence therapy (RT) consists of thinking about one's own experiences through the presentation of memory-facilitating stimuli, and it has as its fundamental axis the activation of emotions. An innovative way of offering RT involves the use of technology-assisted applications, which must also satisfy the needs of the user. This study aimed to develop an AI-based computer application that recreates RT in a personalized way, meeting the characteristics of RT guided by a therapist or a caregiver. The material guiding RT focuses on intangible cultural heritage. The application incorporates facial expression analysis and reinforcement learning techniques, with the aim of identifying the user's emotions and, with them, guiding the computer system that emulates RT dynamically and in real time. A pilot study was carried out at five senior centers in Barcelona and Portugal. The results obtained are very positive, showing high user satisfaction. Moreover, the results indicate that the high frequency of positive emotions increased in the participants at the end of the intervention, while the low frequencies of negative emotions were maintained at the end of the intervention