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Monitoring weight and physical activity using an amI setting

We have an increasingly sedentary population without the care to make a healthy diet. Therefore, it becomes necessary to give the population the opportunity, despite living a very busy and tiring life, to have control over important aspects to their health. This work aims to present a model of an ambient intelligence system for monitoring the weight and physical activity in active individuals. To accomplish thi...

A síndrome de Smith-Lemli-Opitz: características fenotípicas e genotípicas dos ...

A síndrome de Smith-Lemli-Opitz (SLOS) é uma síndrome polimalformativa de transmissão autossómica recessiva causada por um défice metabólico da biossíntese do colesterol, que se caracteriza por dismorfias craniofaciais, anomalias congénitas de vários órgãos (salientando-se as do esqueleto e do aparelho urogenital), restrição de crescimento intra-uterino (RCIU), alterações comportamentais e atraso mental. É caus...

A rare de novo unbalanced complex rearrangement involving chromosomes 12, 18 an...

Complex chromosomal rearrangements (CCRs) are rare structural abnormalities that involve three or more breakpoints located on two or more chromosomes and are often associated with developmental delay, mental retardation and congenital anomalies. Here, we report the case of a rare de novo CCR in a girl who was 9 months old when first reported to us. At 15 months old, her clinical features included marked hypoton...

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