No abstract

Rett syndrome (RS) is one of the best human models to study movement disorders. Patients evolve from a hyperkinetic to a hypokinetic state, and a large series of abnormal movements may be observed along their lives such as stereotypies, tremor, chorea, myoclonus, ataxia, dystonia, and rigidity. The aim of this work was to analyze movement disorders in RS patients with a detected MECP2 mutation, as well as their correlation with genotype, in a clinically and genetically well-characterized sample of patients, and thus contribute to redefine the clinical profile of this disease. In this study, we included 60 patients with detected MECP2 mutations. These were categorized and grouped for analysis, according to (1) type of change (missense or truncating, including nonsense and frameshift but also large deletions) and (2) location of the mutation. Differences were found concerning the frequency of independent gait, dystonia, type of tremor, and global score severity when comparing the group of patients with missense and truncating mutations. We also found differences in the presence, distribution, severity, or type of movement disorders in the two groups of patients according to the median duration of the disease (less than 60 months; 60 months or more). We conclude that movement disorders seem to reflect the severity and rate of progression of Rett disorder, patients with truncating mutations presenting a higher rate and more severe dystonia and rigid-akinetic syndrome, when comparing groups with similar time of disease evolution.

Although symmetric midline hand stereotypies were not specific to patients with an MECP2 mutation, some of the other stereotypies seemed to be more characteristic of this group. In patients younger than 10 years and meeting the necessary diagnostic criteria of Rett syndrome, the association of hand stereotypies without hand gaze, bruxism, and two or more of the other stereotypies seemed to be highly indicative of the presence of an MECP2 mutation.

Entropy is a useful concept that has been used to describe the structure and behavior of different systems. We summarize its multifaceted character with regard to its implications for urban sprawl, and propose a framework to apply the concept of entropy to urban sprawl for monitoring and management.

This article has been removed: please see Elsevier Policy on Article Withdrawal (https://www.elsevier.com/about/our-business/policies/article-withdrawal) This meeting abstract has been removed by the Publisher. Due to an administrative error, abstracts that were not presented at the ISDN 2014 meeting were inadvertently published in the meeting's abstract supplement. The Publisher apologizes to the authors and readers for this error.

This paper presents an application of probabilistic methodologies to evaluate the reserve requirements of generating systems with large amounts of renewable energy sources. The idea is to investigate the behavior of reliability indices, including those from the well-being analysis, when the major portion of the renewable sources comes from the wind power. Renewable in this work mainly comprises hydroelectric, minihydroelectric and wind power sources. Case studies on configurations of the Portuguese and Spanish generating systems are presented and discussed.

No abstract

Stuve-Wiedemann syndrome (SWS) is an autosomal recessively inherited disorder that is usually associated with high mortality in the neonatal period. Eleven cases have been published with prolonged survival, the oldest being 16 years. This phenotype is characterized by progressive skeletal anomalies including short stature, severe spinal deformities, bowing of the long bones, contractures and spontaneous fractures, and by neurological features that resemble dysautonomia. Here we report on the natural history of a Portuguese girl from birth till 12 years. The diagnosis was molecularly confirmed by the detection of a homozygous 4 bp deletion (167_170 del TAAC) in exon 3 of LIFR. We compare the findings in this patient to other patients with prolonged survival from the literature. ß