Rett syndrome is a genetic neurodevelopmental disorder that affects mainly girls, but mutations in the causative MECP2 gene have also been identified in boys with classic Rett syndrome and Rett syndrome-like phenotypes. We have studied a group of 28 boys with a neurodevelopmental disorder, 13 of which with a Rett syndrome-like phenotype; the patients had diverse clinical presentations that included perturbations of the autistic spectrum, microcephaly, mental retardation, manual stereotypies, and epilepsy. We analyzed the complete coding region of the MECP2 gene, including the detection of large rearrangements, and we did not detect any pathogenic mutations in the MECP2 gene in these patients, in whom the genetic basis of disease remained unidentified. Thus, additional genes should be screened in this group of patients.
THE ROLE OF ICTHYOTHERAPY IN THE TREATMENT OF PSORIASIS: A CASE REPORT Introduction: Psoriasis is a common condition affecting 1 to 3% of the Portuguese population. It has a chronic course and lesions may cover the whole surface of the skin. With obviously visible lesions, the disease is seen as stigmatizing and patients may feel embarrassment and rejection by others. It can affect social contacts, self-image, and self-esteem. Treatment aims at reducing the number and severity of skin lesions using phototherapy, topical treatment and systemic medications. Some treatments may be contraindicated, some may lose efficacy, some cause serious adverse effects, while others may not be readily available. All this may cause patients to seek alternative therapies. Icthyotherapy, using the freshwater fish Garra rufa, has been discussed as an option. This treatment is currently available in several places in Portugal and deserves the attention of health professionals. Case description: A 35 year-old sailor with severe psoriasis diagnosed in childhood is described. He was treated by a dermatologist and a psychologist. He presented with lesions covering 60% of the skin surface, resistant to multiple treatments, and was receiving only topical therapy. He had recently been given systemic acitretin with good results during treatment but with recurrence of lesions when treatment ended. When he came to the family health unit he was discouraged by his current condition and doubtful about the possibilities for future treatment. He mentioned that he had seen icthyotherapy in a shopping centre and expressed interest in trying it. After five sessions of icthyotherapy, with total immersion of the body in a water tank and simultaneous application of calcipotriol and betamethasone, he noted a reduction in scaling and itching. He also noted an improvement in his mood and was satisfied with the early results of treatment. Comments: Icthyotherapy may be useful in refractory and disfiguring cases of psoriasis. This case also demonstrates benefits of its use. It appears to be safe. There are a few reports of cases of patients with skin infections from exposure to G. rufa.
A memória é uma das faculdades mentais, cuja alteração mais motiva o idoso a recorrer ao seu médico de família. Embora este declínio possa decorrer dos processos fisiológicos próprios do envelhecimento, é importante reconhecê-lo como possível estágio de transição para demência ou indício de patologia do foro depressivo. Em termos mundiais, sabe-se que o defeito cognitivo e a demência são situações de elevada prevalência. 1 Em 2012, e com base no relatório da Organização Mundial da Saúde e da Associação Alzheimer Disease Inter
<p>As operações de concentração de instituições financeiras têm por objetivo, em geral, criar dimensão e oportunidades de ganhos resultantes das poupanças em custos e das sinergias geradas. O objetivo deste artigo é o de analisar as decisões estratégicas de concentração da oferta pública de aquisição do banco BCP ao banco BPI, cujo processo decorreu entre Março de 2006 até ao final de Novembro de 2007. A teoria subjacente a este tipo de operações, de carácter neoliberal e de cariz anglo-saxónico, defende haver ganhos de eficiência devido às economias de escala em organizações de maior dimensão, não considerando os aspetos comportamentais dos gestores. A análise dos dados recolhidos permite, através do estudo de caso, verificar as estratégias adotadas por cada instituição, os motivos que levaram à rejeição da proposta e a importância das entidades reguladoras neste processo. Os resultados fornecem uma base sólida para concluir que as decisões estratégicas do BPI foram mais fortes que as propostas do BCP, e as decisões tomadas pelos reguladores tiveram um peso importante no desfecho da operação, tendo penalizado a operação pela demora na resposta, ainda que os procedimentos existentes tendam a ser cada vez mais desburocratizados e autónomos. A conclusão tem por base uma reflexão sobre o tipo de estratégias adotadas por cada instituição envolvida e o impacto provocado por cada iniciativa.</p><p>The concentration operations of financial institutions aim, in general, to create dimension and earnings opportunities, which result from costs savings and from synergies generated by the new company. So on, it induces productivity and greater competitiveness. The purpose of this paper is to analyze the strategic decision of the takeover bid of BCP on BPI, a process that took place between Mar./2006 and the end of Nov./2007. The theory behind this type of operations has a neoliberal and Anglo-Saxon character, advocating the existence of efficiencies due to economies of scale in larger organizations, not considering the behavioral aspects of management. The analysis of the gathered data provides, through the case study, clues on the strategies adopted by each institution, the reasons that led to the rejection of the proposal and the importance of regulatory authorities in this process. The results provide a solid basis for concluding that the strategic decisions of BPI were stronger than the related decisions of the BCP, and the decisions taken by the regulators also had an important role in the outcome of the operation, although existing procedures tend to be increasingly unbureaucratic and independent. The conclusion is based on a reflection on the type of strategies adopted by each institution involved and the impact caused by each initiative.</p><p><strong>JEL: </strong>G21; G24; G34</p><p> </p><p><strong> Article visualizations:</strong></p><p><img src="/-counters-/lit/0135/a.php" alt="Hit counter" /></p><a href="https://doi.org/10.5281/zenodo.3887448"><img src="https://zenodo.org/badge/DOI/10.5281/zenodo.3887448.svg" alt="DOI" /></a>
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