Friedreich's ataxia: clinical and molecular study of 25 Brazilian cases

INTRODUCTION: Friedreich's ataxia is a neurodegenerative disorder whose clinical diagnostic criteria for typical cases basically include: a) early age of onset (< 20 or 25 years), b) autosomal recessive inheritance, c) progressive ataxia of limbs and gait, and d) absence of lower limb tendon reflexes. METHODS: We studied the frequency and the size of expanded GAA and their influence on neurologic findings, age at onset, and disease progression in 25 Brazilian patients with clinical diagnosis of Friedreich's ataxia - 19 typical and 6 atypical - using a long-range PCR test. RESULTS: Abnormalities in cerebellar signs, in electrocardiography, and pes cavus occurred more frequently in typical cases; however, plantar response and speech were more frequently normal in this group when the both typical and atypical cases were compared. Homozygous GAA expansion repeats were detected in 17 cases (68%) - all typical cases. In 8 patients (32%) (6 atypical and 2 typical), no expansion was observed, ruling out the diagnosis of Friedreich's ataxia. In cases with GAA expansions, foot deformity, cardiac abnormalities, and some neurologic findings occurred more frequently; however, abnormalities in cranial nerves and in tomographic findings were detected less frequently than in patients without GAA expansions. DISCUSSION: Molecular analysis was imperative for the diagnosis of Friedreich's ataxia, not only for typical cases but also for atypical ones. There was no genotype-phenotype correlation. Diagnosis based only on clinical findings is limited; however, it aids in better screening for suspected cases that should be tested. Evaluation for vitamin E deficiency is recommended, especially in cases without GAA expansion.

Factors that determine the level of care children and adolescents experiencing mental disorders receive

RESUMO: Resumo Uma prestação de serviços de saúde mental para crianças e adolescentes (CAMHS) oportuna, eficaz e baseada na evidência pode evitar incapacidade a longo prazo. No entanto, estes serviços são criticamente sub-financiados em todo o mundo. É um imperativo garantir que este precioso recurso não seja desperdiçado. Os governos e outras partes interessadas relevantes na área da saúde mental precisam de conhecer o estado de saúde mental da população, quais os recursos disponíveis e como melhor utilizar os recursos disponíveis para orientar uma política e decisões efectivas sobre os níveis de serviços. Objetivo: O objetivo deste artigo é explorar o papel da acuidade, gravidade e complexidade na determinação dos cuidados em saúde mental especializados recebidos por crianças e adolescentes que sofrem perturbações mentais. Métodos: Este estudo é exploratório envolvendo uma revisão sistemática da literatura. Foi realizada uma pesquisa com palavras-chave utilizando bases de dados PsychINFO, EMBASE, PubMed e MEDLINE. A literatura cinzenta também foi investigada com um enfoque nas abordagens sistémicas, organizacionais e políticas para a organização e comissionamento de CAMHS. Foram selecionados apenas documentos escritos em Inglês. Três países, Bélgica, Reino Unido e Estados Unidos, todos eles com modelos muito diferentes de organização de CAMHS, foram revistos para investigar de que forma os conceitos de acuidade, gravidade e complexidade foram utilizados na sua concepção de serviços para determinar o nível da assistência prestada. Resultados: Nem a Bélgica, nem o modelo norte-americano de CAMHS organização de serviço parecem estar alinhados com os principais conceitos na determinação do nível de prestação de serviços. O sistema de serviços do Reino Unido de CAMHS está mais estreitamente alinhado com esses conceitos e tem uma alocação de recursos mais equilibrada entre o hospital e a comunidade. O seu ponto fraco está na falta de flexibilidade entre os níveis de serviço e na falta de apoio para com o sector dos cuidados de saúde primários. Conclusões: A variabilidade na alocação de recursos a diferentes níveis especializados de CAMHS (em regime de internamento, ambulatório, e na comunidade) e o modelo diferente de estrutura de serviços entre os países estudados indica uma inconsistência na forma como as crianças e adolescentes que apresentam aos CAMHS são referenciados para os cuidados que recebem. Isto põe em questão se as crianças e adolescentes com perturbações mentais estão a receber o nível e tipo de cuidados concordantes com as suas necessidades. A concepção e o comissionamento de sistemas de CAMHS levam-nos à discussão de uma série de princípios fundamentais que devem ser considerados. O sistema perfeito no entanto, ainda está para ser encontrado. -------------------------------- ABSTRACT: Provision of timely, effective, evidence based mental health services to children and adolescents can prevent long term impairment, but they are critically underfunded across the globe. There is an imperative to ensure this precious resource is not wasted. Governments and other relevant mental health stakeholders need to know the mental health status of the population, what resources are available and how best to use the resources available to guide effective policy and decisions about service levels. Aim: The aim of this paper is to explore the role of acuity, severity and complexity in determining the specialist mental health care that children and adolescents experiencing mental disorders receive. Methods: This study is exploratory involving a systematic scan of the literature. A key word search was conducted using databases PSYCHINFO, EMBASE, PUBMED and MEDLINE. Grey literature was also searched to focus on systemic, organisational and policy approaches to the organisation and commissioning of CAMHS. Only documents written in English were selected. Three countries Belgium, UK and the US all with very different models of service organisation for CAMHS were reviewed to investigate how well the concepts of acuity, severity and complexity were used to determine the level of care delivered in their service design. Findings: Neither the Belgium nor the US model of CAMHS service organisation appear to align with the key concepts driving intensity of level of service provision. The UK CAMHS service system most closely aligns with the concepts. It has a more balanced resource allocation between hospital and community. Its downfall is in its lack of flexibility between service levels and its lack of support for the primary care sector. Conclusions: The variability in resource allocation to different service levels (inpatient, outpatient, community) within specialist CAMHS and the differing model of service structure across countries indicates an inconsistency in how children and adolescents presenting to CAMHS are allocated to the care they receive. This puts into question whether children and adolescent with mental disorders are receiving a level and type of care commensurate with their needs. In commissioning and designing CAMHS systems a number of key principles that should be considered are discussed. The perfect system however, is yet to be found.

Efectividade e eficiência: médicos, gestores, informação e bom senso

RESUMO - Num contexto de escassez de recursos, agravado pelo aumento da procura de cuidados de saúde e pelo custo do imperativo tecnológico, muitas vezes erroneamente confundido com imperativo ético, a procura da eficiência é cada vez mais relevante. Para que esta se atinja e mantenha é preciso um conhecimento profundo dos efeitos das medidas eficazes, a verdadeira efectividade, numa perspectiva sistémica, o que implica uma partilha de saberes e acções concertadas entre médicos e gestores. A lógica económica não substitui o juízo clínico, mas reforça a necessidade de compatibilizar as intervenções úteis com o custo pessoal e social exigido. Precisa-se de boa informação que gere conhecimento e do insubstituível bom senso.

Fatores de risco no patrolhamento da GNR em ambiente operacional

In the mid-twentieth century, Portugal took the first big step towards social awareness of the Safety and Health at Work. Still later, the International Labour Organization and the World Health Organization were responsible for setting global guidelines that clarified the States for the way forward in inguito of safeguarding the common interests of workers, businesses and the state. All workers should be covered by the rules governing matters relating to Safety, imperative requirements established in the Constitution of the Portuguese Republic. These also include those soldiers from National Guard who, in contemporary social conjecture face in their everyday life situations worthy of heightened risk aquidade. Ensure the identification of risk factors to which they are exposed, is, first, a big boost in the way of preserving the safety of these employees, who daily selflessly and under the most adverse working conditions fulfill the mission of the Guarda Nacional Republicana. Adverse weather conditions, and violence at work are two examples of risk factors to which the military Guard are daily exposed, and hence arise many days of absence from the workplace. The purpose of this study is to identify the main risk factors to which the military from GNR are exposed during dismounted patrols, and also provide solutions on ways to mitigate and manage the risks presented. The cognitive distance traveled, throughout this study led us to demonstrate that it has been done by the GNR chain of Command, a huge effort to ensure through various forms (including emphasize the new Regulation of Uniforms), the resolution of the main factors that may jeopardize the integrity of the patrolmen, betting this Institution in the protection of the military that compose it, and the prevention of accidents at work through training and systematic monitoring that superiors expend with its employees.

Cumprimento de ordens, obediência hierárquica e disciplina militar versus perpetração (in)voluntária de crimes

Following orders, hierarchical obedience and military discipline are essential values for the survival of the armed forces. Without them, it is not possible to conceive the armed forces as an essential pillar of a democratic state of law and a guarantor of national independence. As issuing orders as well as receiving and following them are inextricably linked to military discipline, and as such injunctions entail the workings of a particular obedience regime within the specific kind of organized power framework which is the Armed Forces, only by analysing the importance of such orders within this microcosm – with its strict hierarchical structure – will it be possible to understand which criminal judicial qualification to ascribe to the individual at the rear by reference to the role of the front line individual (i.e. the one who issues an order vs the one who executes it). That is, of course, when we are faced with the practice of unlawful acts, keeping in mind the organizational framework and its influence over the will of the executor. One thing we take as read, if the orders can be described as unlawful, the boundary line of the duty of obedience, which cannot be overstepped, both because of a legal as well as a constitutional imperative, will have been crossed. And the military have sworn an oath of obedience to the fundamental law. The topic of hierarchical obedience cannot be separated from the analysis of current legislation which pertains to the topic within military institutions. With that in mind, it appeared relevant to address the major norms which regulate the matter within the Portuguese military legal system, and, whenever necessary and required by the reality under analysis, to relate that to civilian law or legal doctrine.

Quando ler se torna um prazer: contributo da promoção da leitura literária na infância

Relatório de estágio de mestrado em Educação Pré-Escolar e Ensino do 1º Ciclo do Ensino Básico

Desenvolvimento de rede neuronal artificial para o diagnóstico de doenças neurodegenerativas

Dissertação de mestrado integrado em Engenharia Eletrónica Industrial e Computadores

Microenxertia em castanheiro

Dissertação de mestrado em Biologia Molecular, Biotecnologia e Bioempreendedorismo em Plantas

Projecto de componentes estruturais recorrendo a soluções avançadas em aços de alta resistência

Dissertação de mestrado integrado em Engenharia Mecânica

Blogs: atores sociais na disseminação da cultura de moda

Dissertação de mestrado em Design de Comunicação de Moda

Estudo da cabeceira da Sé do Porto

Dissertação de mestrado integrado em Engenharia Civil

Development of an intelligent earthwork optimization system

Tese de Doutoramento em Engenharia Civil.

Interação cultural e interpretatio na epigrafia votiva: o caso da fachada ocidental do conuentus Bracaraugustanus

Dissertação de mestrado em Arqueologia

Uma cultura de construção que constrói cultura: a comunicação estratégica do grupo dst

Relatório de estágio de mestrado em Ciências da Comunicação (área de especialização em Publicidade e Relações Públicas)

O reforço da democracia local no âmbito da reforma da administração autárquica

Dissertação de mestrado em Direito das Autarquias Locais