This study was supported by grants from the American Medical Society for Sports Medicine. The authors would like to acknowledge and show our appreciation for our undergraduate research students including David Lawton, Drew Gardner, Mark Sundman, Kelsey Evans, Graham Cochrane, Jordan Cottle and Jack Halligan for their assistance in data collection over the past four years.

Todos os procedimentos descritos abaixo foram aprovados pelo Conselho de Revisão Institucional da Elon. 1. computadorizada Testing Neurocognitive <ol><li> Peça aos participantes para se sentar em frente ao computador. Log participantes sobre a sistema e instruí-los para completar a testes neuropsicológicos computadorizados que consiste uma seção demográfica e as informações, lista de sintomas de auto-relato, e 6 módulos (discriminação palavra, memória design, de X e O, símbolo de correspondência, jogo de cores e três letras). </li><li> Baixe relatório de síntese e digite quatro pontuações compostas para a memória verbal, memória visual, tempo de reação e velocidade de processamento motor. </li></ol> 2. evento relacionado Potenciais <ol><li> Meça a circunferência da cabeça usando uma fita métrica para determinar o tamanho de EEG líquido para ser utilizado. Determinar a colocação da rede de EEG medindo pontos anatômicos. </li><li> Mergulhe a net EEG nalução de cloreto de sódio e xampu de bebê para 5 min. </li><li> Coloque o líquido EEG na cabeça do participante. O sistema que inclui utilizar 32 canais. </li><li> Verifique os níveis de impedância dos sites no computador. Para o nosso sistema, uma impedância abaixo de 100 kohm é considerada aceitável. </li><li> Explicar as tarefas cognitivas e deixar o participante praticar cada uma das tarefas. <ol><li> Auditivo Oddball Task: Instrua o participante a colocar fones de ouvido e sentar-se confortavelmente em uma mesa. Informá-los que eles vão ouvir uma série de tons baixos e altos e responder o mais rapidamente e com precisão quanto possível, clicando em um botão para um tom auditivo de alta freqüência. </li><li> Flanker Task: Instrua participante para sentar-se na frente de uma tela de computador onde será dada uma série de setas projetadas em uma tela. Instrua os participantes a responder à direção da seta meio clicando o botão esquerdo do mouse se ele estava apontando para a esquerda ou clicando no botão direito do mouse se ele estava apontando right como rapidez e precisão possível. </li></ol></li><li> Instrua participante de completar dois julgamentos, tanto do auditiva tarefa excêntrico ea tarefa flanker. </li><li> Retire o líquido EEG do participante e limpar o líquido EEG por imersão em germicida desinfectante para 10 min. </li></ol> 3. As respostas Somatosensory da Percepção <ol><li> Assente a participante confortavelmente com sua mão esquerda em uma posição propensa descansando no dispositivo estímulo sensorial e seus dedos se posicionado ao longo do contorno do dispositivo com as pontas acolchoadas de dígitos 2 e 3 colocados em contato com as sondas de estímulo. 23 </li><li> Pergunte ao participante para exibir as instruções relacionadas com a tarefa e pistas em um monitor de computador e inserir respostas usando um mouse de computador de dois botões. Projeto 5 testes diferentes: duas tarefas simples única vez reacção no local, uma discriminação amplitude local dupla, 24 uma tarefa dupla amplitude site com um único site adaptando estímulo, 24 eum julgamento ordem temporal tarefa. 25 </li><li> Antes do início de cada ensaio, as pistas no computador irá instruir o participante para completar provas práticas para se familiarizarem com a tarefa. O computador vai dar o feedback de desempenho participantes após cada ensaio (por exemplo, correta; incorreta). </li></ol> Protocolo 4. Balance <ol><li> Instrua os participantes a calçar meias anti-derrapantes e depois ficar no sistema de equilíbrio de se familiarizar com o instrumento. </li><li> Instrua os participantes a ficar em uma posição confortável, combinando com o centro de pressão do ponto com o ponto no centro da tela. Pesquisadores gravar esta posição inicial confortável de tal forma que todos os testes ocorrem com a mesma posição do pé em pé no dispositivo. </li><li> Pergunte ao participante em repouso durante 30 segundos para cada uma das quatro condições (olhos superfície aberta / firme, olhos fechados / superfície superfície firme e olhos abertos / espuma, de olhos fechados / superfície de espuma). Proporcionar aos participantes a 10 seg de descanso entre cada condição e uma contagem regressiva de 3 segundos antes de início de cada gravação. </li><li> Repita cada uma das condições ao completar uma tarefa secundária. Instrua-os a contar para trás por 7 a partir de um número de 3 dígitos aleatórios dado a eles (por exemplo, 843). </li><li> Grave a pontuação do índice de oscilação, uma medida do desvio padrão da quantidade de oscilação para cada estado e centro de dados de pressão para usar mais tarde para análise posterior. </li></ol> 5. Avaliação Gait <ol><li> Avaliar &#39;marcha usando um portátil de 15 &quot;participantes longo tapete sistema de análise de marcha instrumentada com sensores de pressão presentes em todo o comprimento do tapete para detectar pisadas do participante. </li><li> Peça aos participantes para atravessar mat descalço em uma velocidade confortável de cinco vezes a partir de uma distância de 3 &#39;antes do início da esteira e 3&#39; depois de deixar o tatame. </li><li> Instrua o Participants para completar cinco ensaios caminhadas adicionais, enquanto em contagem decrescente, por sete a partir de um número de 3 dígitos aleatórios como uma dupla tarefa cognitiva concorrente. </li><li> As variáveis ​​dependentes obtidos como saída a partir de análise de marcha incluem medidas absolutas e variabilidade dos vários parâmetros espaço-temporais como velocidade, cadência e comprimento do passo. </li></ol> 6. Genetics <ol><li> Pergunte ao participante para remover com cuidado a vara swab de seu recipiente estéril (tendo o cuidado de só tocar o final da vara da vara swab), mova o cotonete na sua boca, e esfregue vigorosamente o cotonete dentro de ambas as bochechas para um total de 20 seg . </li><li> Distribua a vara cotonete para o técnico que está usando látex ou borracha nitrílica luvas. Apenas segurar a extremidade da vara e, em seguida, colocar a ponta de mecha para um tubo de 1,7 ml estéril (rotulada com um número de identificação único), que é imediatamente colocado em gelo. </li><li> Dentro de 24 hr transferência das amostras são, em freezer -20 ° C. </li><li> Extrai-se o ADN usandoum Kit de Purificação DNA padrão de acordo com o protocolo do fabricante. Para obter uma amostra mais concentrada, após a extracção, executar um passo de precipitação de isopropanol e re-hidratar o ADN em 20 ul de tampão EDTA (pH 8,0). </li><li> Guarde o DNA extraído a -80 ° C até a análise da genotipagem pela reação em cadeia da polimerase (PCR) padrão ensaios com marcadores fluorescentes. </li><li> &quot;Call&quot; os genótipos por software PCR e depois verificar manualmente através da visualização de PCR parcelas de amplificação. </li></ol>

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The authors declare that they have no competing financial interests.

O objetivo desta abordagem multidimensional para testes de concussão baseline é duplo: 1) para entender melhor o impacto de uma concussão (termo aguda e longa) sobre o sistema neuromuscular; 2) para ajudar a medicina esportiva equipe make voltar a jogar decisões 26 (eles usam principalmente testes neurocognitivos, como tem sido sugerido por McCrory). Esta abordagem multifacetada para concussão avaliação fornece informações valiosas relacionadas à etiologia, alterações funcionais e recuperação de...

Os abalos estão ocorrendo a taxas alarmantes nos Estados Unidos e têm recebido bastante atenção como um problema de saúde pública. 1-3 Centros dos EUA para Controle e Prevenção de Doenças (CDC) estima que 1,6-3800000 abalos ocorrem em esportes e atividades recreativas anualmente 4,5. Concussão, conforme definido pela Declaração 2 2013 concussão Consenso &quot;pode ​​ser causada por um golpe direto na cabeça, face, pescoço ou noutras partes do corpo com uma força&quot; impulsivo &quot;transmitido na cabeça.&quot; Concussão pode resultado em alterações neuropatológicas e / ou subestruturais que podem resultar em distúrbios funcionais. 2 Estes déficits podem persistir por várias semanas. Não é incomum para os atletas a experimentar um aumento dos sintomas de auto-relato, decréscimos no controle postural, e diminuição da função cognitiva até 14 dias após a lesão inicial. 6 A natureza prolongada dos sintomas, a emidentificação consistente de contusões, ea variabilidade nas habilidades preinjury muitas vezes levam a padronizados decisões complexas e não return-to-play por médicos, o tempo de recuperação incertos, e possivelmente sequelas a longo prazo 7-9. Na sequência de um abalo, um indivíduo pode experimentar tanto de curto prazo e os efeitos a longo prazo. Os efeitos a curto prazo dos abalos relacionadas com o desporto pode incluir mudanças na habilidade jogando, confusão, distúrbios de memória, perda de consciência, retardando do tempo de reação, perda de coordenação, dores de cabeça, tonturas, vômitos, alterações nos padrões de sono e alterações de humor. Estes sintomas geralmente desaparecem em questão de dias. 2,10 No entanto, enquanto algumas pessoas se recuperar de uma única concussão rapidamente, muitas experiência persistente efeitos que podem durar semanas ou meses após a lesão. 10,11, 12 Estes distúrbios sintomáticos para função diária pode ser quantificada utilizando cognitivo e desempenho relacionard testes. Embora ninguém único teste deve determinar o diagnóstico de uma concussão, uma bateria de testes e relações conhecidas entre os testes podem ajudar a equipe médica a fazer diagnósticos, voltar para sala de aula, e voltar a jogar decisões. 2 Há uma grande variabilidade no risco de um indivíduo por concussão e sua recuperação correspondente. 11 Os fatores relacionados à suscetibilidade concussão e recuperação decurso de tempo não são bem conhecidos ou compreendidos. Vários fatores têm sido sugerido que pode impactar a susceptibilidade concussão de um indivíduo e de recuperação. Esses fatores incluem a história do indivíduo concussão, a gravidade da lesão inicial, a história de enxaqueca, a história de dificuldades de aprendizagem, história de comorbidades psiquiátricas, e possíveis fatores genéticos. 7, 9, 13, 14 Muitos estudos têm investigado individualmente fatores específicos, tanto para o curto prazo e de longo prazo efeitos daconcussões, naturalmente o tempo de recuperação e genética como fator de contusões. 4,8,15-17 O que não foi claramente estabelecida é uma abordagem multifacetada eficaz de concussão avaliação que renderia informações valiosas relacionadas à etiologia, alterações funcionais e recuperação de concussão. Devido à variedade de sintomas e o curso de tempo de recuperação incerta, uma abordagem multifacetada para avaliação concussão se justifica, e este deve incluir o teste de linha de base de todos os atletas antes da participação na prática e concorrência, bem como oportuna lesão post. Uma análise recente sugere que as avaliações cognitivas podem ser mais sensíveis para a recuperação de uma contusão que o monitoramento sintomas sozinho. 18 Pode ser que há outras medidas objetivas que podem ser melhores indicadores de recuperação da concussão. Para este protocolo, usamos várias tarefas para avaliar vários componentes do sistema para ver como eles são afetados bya concussão. Um teste neurocognitivo informatizado pode avaliar a memória, velocidade de processamento, habilidades para resolver problemas, eficiência cognitiva e controle dos impulsos. 6 EEG com tarefas de processamento auditivo e visual pode ser usado para avaliar neuroefficiency através da análise de potenciais relacionados a eventos. 19 A tarefa de discriminação somatossensorial pode ser utilizado para avaliar as capacidades de processamento sensoriais periféricas e centrais. 20 equilíbrio e marcha medidas podem ser usados ​​para avaliar as capacidades de desempenho funcional 6,21 Além disso., avaliamos vários genótipos que podem ter relações de concussão história, recuperação de concussão e função cognitiva. Nós 22 baseline testar os nossos alunos-atletas do time do colégio sobre esta bateria de testes e repetir os testes, se incorrer em uma concussão quando assintomáticos. O objetivo deste projeto é avaliar os potenciais de curto prazo e de longo prazo decréscimos no desempenho como resultado de concussões usando genética, neurocognitive, eletrofisiológicos, comportamental, somatossensorial, equilíbrio e marcha medidas. Compreender os mecanismos potenciais que podem estar relacionadas a vários sintomas e deficiências que ocorrem com uma concussão são importantes para ampliar nosso conhecimento sobre concussão. Maior knowledgle sobre estas mudanças podem, no futuro auxílio no diagnóstico de concussão, bem como gerenciamento de concussão que se refere a voltar a jogar e voltar para os acadêmicos. Todas as medidas descritas abaixo foram tiradas no início (antes da participação do estudante-atleta no esporte). Nosso protocolo atual é completar o teste neurocognitivo informatizado em 48 horas, juntamente com o protocolo de equilíbrio, porque acreditamos que estes fornecem informações úteis sobre recuperação e jogo de retorno ao possível e voltar-a-acadêmicos. Quando o aluno-atleta relata assintomática eles novamente voltar para o laboratório, onde todas as medidas iniciais são novamente realizadas, exceto para testes genéticos. O protocolo completo, basEline e assintomática, demora cerca de 90 minutos para ser concluído em um período de testes.

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			<td height="42" style="height:42px;width:216px;">Name of Material/ Equipment</td>
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			<td style="width:167px;">Comments/Description</td>
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		<tr height="22">
			<td height="22" style="height:22px;width:216px;">ImPACT</td>
			<td style="width:356px;">ImPACT, Pittsburgh, PA</td>
			<td style="width:119px;"></td>
			<td>Neurocognitive concussion testing</td>
		</tr>
		<tr height="21">
			<td height="21" style="height:21px;width:216px;">EEG</td>
			<td style="width:356px;">EGI, Eugene, OR</td>
			<td style="width:119px;"></td>
			<td>EEG 32-channel system</td>
		</tr>
		<tr height="21">
			<td height="21" style="height:21px;width:216px;">Stim2</td>
			<td style="width:356px;">Compumedics Neuroscan, Charlotte, NC</td>
			<td style="width:119px;"></td>
			<td>Software for task presentation for flanker task and auditory oddball</td>
		</tr>
		<tr height="21">
			<td height="21" style="height:21px;width:216px;">NetStation</td>
			<td style="width:356px;">EGI, Eugene, OR</td>
			<td style="width:119px;"></td>
			<td>Software for data collection and analysis of EEG</td>
		</tr>
		<tr height="17">
			<td height="17" style="height:17px;width:216px;">Sensory Device</td>
			<td style="width:356px;">Cortical Metrics</td>
			<td style="width:119px;"></td>
			<td>Sensory testing</td>
		</tr>
		<tr height="21">
			<td height="21" style="height:21px;width:216px;">Balance System SD</td>
			<td>Biodex Medical Systems, Inc., Shirley, NY</td>
			<td style="width:119px;"></td>
			<td>balance testing</td>
		</tr>
		<tr height="21">
			<td height="21" style="height:21px;width:216px;">Force Plate</td>
			<td>AMTI Corp., Watertown, MA, USA</td>
			<td style="width:119px;"></td>
			<td>Gait Initiation</td>
		</tr>
		<tr height="21">
			<td height="21" style="height:21px;width:216px;">Movement Analysis</td>
			<td>Qualisys AB, Gothenburg, Sweden</td>
			<td style="width:119px;"></td>
			<td>Gait Analysis</td>
		</tr>
		<tr height="19">
			<td height="19" style="height:19px;">GAITRite&#160;</td>
			<td style="width:356px;">CIR systems, Inc., Sparta, NJ, USA</td>
			<td style="width:119px;"></td>
			<td>Gait analysis</td>
		</tr>
		<tr height="19">
			<td height="19" style="height:19px;width:216px;">PCR</td>
			<td style="width:356px;">Applied Biosystems, Foster City, CA</td>
			<td style="width:119px;"></td>
			<td>Genetic Analysis</td>
		</tr>
		<tr height="24">
			<td height="24" style="height:24px;">Matlab</td>
			<td style="width:356px;">Mathworks, Natick, MA, USA</td>
			<td style="width:119px;"></td>
			<td>Gait and balance analysis</td>
		</tr>
		<tr height="20">
			<td height="20" style="height:20px;width:216px;">Visual 3D</td>
			<td style="width:356px;">C Motion, Inc, Germantown, MD, USA</td>
			<td style="width:119px;"></td>
			<td>3D analysis&#160;</td>
		</tr>
	</tbody>
</table>

a neuroscientific approach to the examination of concussions in student-athletes

Os abalos estão ocorrendo a taxas alarmantes nos Estados Unidos e tornaram-se um grave problema de saúde pública. O CDC estima que 1,6-3.800.000 abalos ocorrem em esportes e atividades recreativas anualmente. Concussão, conforme definido pela Declaração de 2013 concussão Consenso &quot;pode ​​ser causada por um golpe direto na cabeça, face, pescoço ou noutras partes do corpo com uma força&quot; impulsivo &quot;transmitido na cabeça.&quot; Os abalos deixar o indivíduo tanto de curto e os efeitos a longo prazo. Os efeitos a curto prazo dos abalos relacionadas com o desporto pode incluir mudanças na habilidade jogando, confusão, distúrbios de memória, perda de consciência, retardando do tempo de reação, perda de coordenação, dores de cabeça, tonturas, vômitos, alterações nos padrões de sono e alterações de humor. Estes sintomas geralmente desaparecem em questão de dias. No entanto, enquanto algumas pessoas se recuperar de uma única concussão rapidamente, muitos experimentam persistente efeitos que podema duração de semanas ou meses. Os fatores relacionados à suscetibilidade concussão e os tempos de recuperação subseqüentes não são bem conhecidos ou compreendidos no momento. Vários fatores têm sido apontados e que incluem a história do indivíduo concussão, a gravidade da lesão inicial, a história de enxaqueca, a história de dificuldades de aprendizagem, história de comorbidades psiquiátricas, e, possivelmente, fatores genéticos. Muitos estudos têm investigado individualmente determinados fatores tanto os de curto prazo e de longo prazo efeitos dos abalos, naturalmente o tempo de recuperação, a susceptibilidade e recuperação. O que não foi claramente estabelecida é uma abordagem multifacetada eficaz para avaliação concussão que renderia informações valiosas relacionadas à etiologia, alterações funcionais e recuperação. O objetivo deste artigo é mostrar um desses multifacetada abordado que examina concussões utilizando testes neurocognitivos informatizado, potenciais relacionados a eventos, respostas de percepção somatossensorial, equilibrar jumentossment, avaliação da marcha e testes genéticos.

Testing Neurocognitive Computadorizado Um exemplo de resultados para o teste neurocognitivo informatizado pode ser visto na Figura 1. O programa de computador provoca escores compostos em memória verbal, memória visual, Visual Motor e velocidade de tempo de reação que muitas vezes são usados ​​para fazer return-to-play e devolver-to -Saiba gestão de concussão protocolos. Os compósitos de memória verbal e visual avaliar processos de atenção, ap...

Watch this Scientific Journal Video about A Neuroscientific Approach to the Examination of Concussions in Student-Athletes at JoVE.com

A Neuroscientific Approach to the Examination of Concussions in Student-Athletes

Há uma grande variabilidade no risco de um indivíduo por concussão e sua recuperação correspondente. A abordagem multifacetada para avaliação concussão está garantido; incluindo testes de linha de base dos atletas antes da participação no esporte e oportuna lesão post. O objetivo deste protocolo é o de proporcionar uma abordagem multifacetada que examinar concussões.

Uma abordagem neurocientífica para o Exame de abalos em alunos-atletas

Concussions are occurring at alarming rates in the United States and have become a serious public health concern. The CDC estimates that 1.6 to 3.8 ...

a-neuroscientific-approach-to-examination-concussions-student

Research

JoVE Journal

Medicine

12.6K visualizações.  Elon University.  Há uma grande variabilidade no risco de um indivíduo por concussão e sua recuperação correspondente. A abordagem multifacetada para avaliação concussão está garantido; incluindo testes de linha de base dos atletas antes da participação no esporte e oportuna lesão post. O objetivo deste protocolo é o de proporcionar uma abordagem multifacetada que examinar concussões. 

Vídeo: A Neuroscientific Approach to the Examination of Concussions in Student-Athletes

Bronchial Thermoplasty:  A Novel Therapeutic Approach to Severe Asthma

Bronchial thermoplasty is a non-drug procedure for severe persistent asthma that delivers thermal energy to the airway wall in a precisely controlled manner to reduce excessive airway smooth muscle. Reducing airway smooth muscle decreases the ability of the airways to constrict, thereby reducing the frequency of asthma attacks. Bronchial thermoplasty is delivered by the Alair System and is performed in three outpatient procedure visits, each scheduled approximately three weeks apart. The first procedure treats the airways of the right lower lobe, the second treats the airways of the left lower lobe and the third and final procedure treats the airways in both upper lobes. After all three procedures are performed the bronchial thermoplasty treatment is complete.
Bronchial thermoplasty is performed during bronchoscopy with the patient under moderate sedation. All accessible airways distal to the mainstem bronchi between 3 and 10 mm in diameter, with the exception of the right middle lobe, are treated under bronchoscopic visualization. Contiguous and non-overlapping activations of the device are used, moving from distal to proximal along the length of the airway, and systematically from airway to airway as described previously. Although conceptually straightforward, the actual execution of bronchial thermoplasty is quite intricate and procedural duration for the treatment of a single lobe is often substantially longer than encountered during routine bronchoscopy. As such, bronchial thermoplasty should be considered a complex interventional bronchoscopy and is intended for the experienced bronchoscopist. Optimal patient management is critical in any such complex and longer duration bronchoscopic procedure. This article discusses the importance of careful patient selection, patient preparation, patient management, procedure duration, postoperative care and follow-up to ensure that bronchial thermoplasty is performed safely.
Bronchial thermoplasty is expected to complement asthma maintenance medications by providing long-lasting asthma control and improving asthma-related quality of life of patients with severe asthma. In addition, bronchial thermoplasty has been demonstrated to reduce severe exacerbations (asthma attacks) emergency rooms visits for respiratory symptoms, and time lost from work, school and other daily activities due to asthma.

Bronchial thermoplasty is a non-drug procedure for severe persistent asthma that delivers thermal energy to the airway wall in a precisely controlled manner to reduce excessive airway smooth muscle. Reducing airway smooth muscle decreases the ability of the airways to constrict, thereby reducing the frequency of asthma attacks.

Termoplastia brônquica: uma nova abordagem terapêutica para Asma Grave

Bronchial thermoplasty is a non-drug procedure for severe persistent asthma that delivers thermal energy to the airway wall in a precisely controlled ...

Medicina

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

There are several lines of evidence supporting the role of de novo mutations as a mechanism for common disorders, such as autism and schizophrenia. First, the de novo mutation rate in humans is relatively high, so new mutations are generated at a high frequency in the population. However, de novo mutations have not been reported in most common diseases. Mutations in genes leading to severe diseases where there is a strong negative selection against the phenotype, such as lethality in embryonic stages or reduced reproductive fitness, will not be transmitted to multiple family members, and therefore will not be detected by linkage gene mapping or association studies. The observation of very high concordance in monozygotic twins and very low concordance in dizygotic twins also strongly supports the hypothesis that a significant fraction of cases may result from new mutations. Such is the case for diseases such as autism and schizophrenia. Second, despite reduced reproductive fitness1 and extremely variable environmental factors, the incidence of some diseases is maintained worldwide at a relatively high and constant rate. This is the case for autism and schizophrenia, with an incidence of approximately 1% worldwide. Mutational load can be thought of as a balance between selection for or against a deleterious mutation and its production by de novo mutation. Lower rates of reproduction constitute a negative selection factor that should reduce the number of mutant alleles in the population, ultimately leading to decreased disease prevalence. These selective pressures tend to be of different intensity in different environments. Nonetheless, these severe mental disorders have been maintained at a constant relatively high prevalence in the worldwide population across a wide range of cultures and countries despite a strong negative selection against them2. This is not what one would predict in diseases with reduced reproductive fitness, unless there was a high new mutation rate. Finally, the effects of paternal age: there is a significantly increased risk of the disease with increasing paternal age, which could result from the age related increase in paternal de novo mutations. This is the case for autism and schizophrenia3. The male-to-female ratio of mutation rate is estimated at about 4&#x2013;6:1, presumably due to a higher number of germ-cell divisions with age in males. Therefore, one would predict that de novo mutations would more frequently come from males, particularly older males4. A high rate of new mutations may in part explain why genetic studies have so far failed to identify many genes predisposing to complexes diseases genes, such as autism and schizophrenia, and why diseases have been identified for a mere 3% of genes in the human genome. Identification for de novo mutations as a cause of a disease requires a targeted molecular approach, which includes studying parents and affected subjects. The process for determining if the genetic basis of a disease may result in part from de novo mutations and the molecular approach to establish this link will be illustrated, using autism and schizophrenia as examples.

Molecular genetic strategy for finding de novo mutations causing common disorders such as autism and schizophrenia.

A estratégia para identificar mutações de novo em Distúrbios comuns, tais como autismo e esquizofrenia

There are several lines of evidence supporting the role of de novo mutations as a mechanism for common disorders, such as autism and schizophrenia. First, ...

The Measurement and Treatment of Suppression in Amblyopia

Amblyopia, a developmental disorder of the visual cortex, is one of the leading causes of visual dysfunction in the working age population. Current estimates put the prevalence of amblyopia at approximately 1-3%1-3, the majority of cases being monocular2. Amblyopia is most frequently caused by ocular misalignment (strabismus), blur induced by unequal refractive error (anisometropia), and in some cases by form deprivation.
Although amblyopia is initially caused by abnormal visual input in infancy, once established, the visual deficit often remains when normal visual input has been restored using surgery and/or refractive correction. This is because amblyopia is the result of abnormal visual cortex development rather than a problem with the amblyopic eye itself4,5 . Amblyopia is characterized by both monocular and binocular deficits6,7 which include impaired visual acuity and poor or absent stereopsis respectively. The visual dysfunction in amblyopia is often associated with a strong suppression of the inputs from the amblyopic eye under binocular viewing conditions8. Recent work has indicated that suppression may play a central role in both the monocular and binocular deficits associated with amblyopia9,10 .
Current clinical tests for suppression tend to verify the presence or absence of suppression rather than giving a quantitative measurement of the degree of suppression. Here we describe a technique for measuring amblyopic suppression with a compact, portable device11,12 . The device consists of a laptop computer connected to a pair of virtual reality goggles. The novelty of the technique lies in the way we present visual stimuli to measure suppression. Stimuli are shown to the amblyopic eye at high contrast while the contrast of the stimuli shown to the non-amblyopic eye are varied. Patients perform a simple signal/noise task that allows for a precise measurement of the strength of excitatory binocular interactions. The contrast offset at which neither eye has a performance advantage is a measure of the "balance point" and is a direct measure of suppression. This technique has been validated psychophysically both in control13,14 and patient6,9,11 populations.
In addition to measuring suppression this technique also forms the basis of a novel form of treatment to decrease suppression over time and improve binocular and often monocular function in adult patients with amblyopia12,15,16 . This new treatment approach can be deployed either on the goggle system described above or on a specially modified iPod touch device15.

Amblyopia is a developmental disorder of the visual cortex that is often accompanied by strong suppression of one eye. We present a new technique for measuring and treating interocular suppression in patients with amblyopia that can be deployed using virtual reality goggles or a portable iPod Touch device.

A Medição e Tratamento de Supressão de ambliopia

Amblyopia, a developmental disorder of the visual cortex, is one of the leading causes of visual dysfunction in the working age population. Current ...

Clinical Examination Protocol to Detect Atypical and Classical Scrapie in Sheep

The diagnosis of scrapie, a transmissible spongiform encephalopathy (TSEs) of sheep and goats, is currently based on the detection of disease-associated prion protein by post mortem tests. Unless a random sample of the sheep or goat population is actively monitored for scrapie, identification of scrapie cases relies on the reporting of clinical suspects, which is dependent on the individual&#39;s familiarization with the disease and ability to recognize clinical signs associated with scrapie. Scrapie may not be considered in the differential diagnosis of neurological diseases in small ruminants, particularly in countries with low scrapie prevalence, or not recognized&#160;if it presents as nonpruritic form like atypical scrapie. To aid in the identification of clinical suspects, a short examination protocol is presented to assess the display of specific clinical signs associated with pruritic and nonpruritic forms of TSEs in sheep, which could also be applied to goats. This includes assessment of behavior, vision (by testing of the menace response), pruritus (by testing the response to scratching), and movement (with and without blindfolding). This may lead to a more detailed neurologic examination&#160;of reporting animals as scrapie suspects. It&#160;could also be used in experimental TSE studies of sheep or goats to evaluate disease progression or to identify clinical end-point.

A short clinical examination protocol is presented to aid in the detection of classical and atypical scrapie in sheep and goats.

Protocolo de Exame Clínico para Detectar Scrapie Atípico e Clássico em Ovelhas

The diagnosis of scrapie, a transmissible spongiform encephalopathy (TSEs) of sheep and goats, is currently based on the detection of disease-associated ...

A Multi-Modal Approach to Assessing Recovery in Youth Athletes Following Concussion

Concussion is one of the most commonly reported injuries amongst children and youth involved in sport participation. Following a concussion, youth can experience a range of short and long term neurobehavioral symptoms (somatic, cognitive and emotional/behavioral) that can have a significant impact on one&#8217;s participation in daily activities and pursuits of interest (e.g., school, sports, work, family/social life, etc.). Despite this, there remains a paucity in clinically driven research aimed specifically at exploring concussion within the youth sport population, and more specifically, multi-modal approaches to measuring recovery. This article provides an overview of a novel and multi-modal approach to measuring recovery amongst youth athletes following concussion. The presented approach involves the use of both pre-injury/baseline testing and post-injury/follow-up testing to assess performance across a wide variety of domains (post-concussion symptoms, cognition, balance, strength, agility/motor skills and resting state heart rate variability). The goal of this research is to gain a more objective and accurate understanding of recovery following concussion in youth athletes (ages 10-18 years). Findings from this research can help to inform the development and use of improved approaches to concussion management and rehabilitation specific to the youth sport community.

This article provides an overview of a multi-modal approach to assessing recovery following concussion in youth athletes. The described protocol uses pre- and post-concussion assessment of performance across a wide variety of domains and can inform the development of improved concussion rehabilitation protocols specific to the youth sport community.

Uma Abordagem Multi-Modal de Recuperação Avaliando em atletas jovens após concussão

Concussion is one of the most commonly reported injuries amongst children and youth involved in sport participation. Following a concussion, youth can ...

Echocardiographic and Histological Examination of Cardiac Morphology in the Mouse

An increasing number of genetically modified mouse models has become available in recent years. Moreover, the number of pharmacological studies performed in mice is high. Phenotypic characterization of these mouse models also requires the examination of cardiac function and morphology. Echocardiography and magnetic resonance imaging (MRI) are commonly used approaches to characterize cardiac function and morphology in mice. Echocardiographic and MRI equipment specialized for use in small rodents is&#160;expensive and requires a dedicated space. This protocol describes cardiac measurements in mice using a clinical echocardiographic system with a 15 MHz human vascular probe. Measurements are performed on anesthetized adult mice. At least three image sequences are recorded and analyzed for each animal in M-mode in the parasternal short-axis view. Afterwards, cardiac histological examination is performed, and cardiomyocyte diameters are determined on hematoxylin-eosin- or wheat germ agglutinin (WGA)-stained paraffin sections. Vessel density is determined morphometrically after Pecam-1 immunostaining. The protocol has been applied successfully to pharmacological studies and different genetic animal models under baseline conditions, as well as after experimental myocardial infarction by the permanent ligation of the left anterior descending coronary artery (LAD). In our experience, echocardiographic investigation is limited to anesthetized animals and is feasible in adult mice weighing at least 25 g.

Echocardiographic examination is frequently used in mice. Expensive high-resolution ultrasound devices have been developed for this purpose. This protocol describes an affordable echocardiographic procedure combined with histological morphometric analyses to determine cardiac morphology.

Exame ecocardiográfico e histológico da morfologia cardíaca no Mouse

An increasing number of genetically modified mouse models has become available in recent years. Moreover, the number of pharmacological studies performed ...

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Clinical case reports (CCRs) are a valuable means of sharing observations and insights in medicine. The form of these documents varies, and their content includes descriptions of numerous, novel disease presentations and treatments. Thus far, the text data within CCRs is largely unstructured, requiring significant human and computational effort to render these data useful for in-depth analysis. In this protocol, we describe methods for identifying metadata corresponding to specific biomedical concepts frequently observed within CCRs. We provide a metadata template as a guide for document annotation, recognizing that imposing structure on CCRs may be pursued by combinations of manual and automated effort. The approach presented here is appropriate for organization of concept-related text from a large literature corpus (e.g., thousands of CCRs) but may be easily adapted to facilitate more focused tasks or small sets of reports. The resulting structured text data includes sufficient semantic context to support a variety of subsequent text analysis workflows: meta-analyses to determine how to maximize CCR detail, epidemiological studies of rare diseases, and the development of models of medical language may all be made more realizable and manageable through the use of structured text data.

We present a protocol and associated metadata template for the extraction of text describing biomedical concepts in clinical case reports. The structured text values produced through this protocol can support deep analysis of thousands of clinical narratives.

Uma abordagem de extração de metadados para relatos de casos clínicos habilitar avançada compreensão dos conceitos biomédicos

Clinical case reports (CCRs) are a valuable means of sharing observations and insights in medicine. The form of these documents varies, and their content ...

A Novel Approach to Monitoring Graft Neovascularization in the Human Gingiva

Laser speckle contrast imaging (LSCI) is a novel method for measuring superficial blood perfusion over large areas. Since it is non-invasive and avoids direct contact with the measured area, it is suitable for monitoring blood flow changes during wound healing in human patients. Vestibuloplasty is periodontal surgery to the oral vestibule, aiming to restore vestibular depth with simultaneous enlargement of the keratinized gingiva. In this special clinical case, a split thickness flap was elevated at the first upper premolar and a xenogenic collagen matrix was adapted to the resulting recipient bed. LSCI was used to monitor the re- and neovascularization of the graft and the surrounding mucosa for one year. A protocol is introduced for the correct adjustment of microcirculation measurement in the oral mucosa, highlighting difficulties and possible failures.
The clinical case study presented demonstrated that &#8212; following the appropriate protocol &#8212; LSCI is a suitable and reliable method for following up microcirculation in a healing wound in the human oral mucosa and gives useful information on graft integration.

This study introduces a protocol for measuring microcirculation in human oral mucosa by laser speckle contrast imaging. The monitoring of wound healing after vestibuloplasty combined with a xenogenic collagen graft is presented on a clinical case.

Uma nova abordagem para o monitoramento de neovascularização de enxerto na gengiva humana

Laser speckle contrast imaging (LSCI) is a novel method for measuring superficial blood perfusion over large areas. Since it is non-invasive and avoids ...

Transthoracic Echocardiographic Examination in the Rabbit Model

Large animal models such as the rabbit are valuable for translational preclinical research. Rabbits have a similar cardiac electrophysiology compared to that of humans and that of other large animal models such as dogs and pigs. However, the rabbit model has the additional advantage of lower maintenance costs compared to other large animal models. The longitudinal evaluation of cardiac function using echocardiography, when appropriately implemented, is a useful methodology for preclinical assessment of novel therapies for heart failure with reduced ejection fraction (e.g. cardiac regeneration). The correct use of this non-invasive tool requires the implementation of a standardized examination protocol following international guidelines. Here we describe, step by step, a detailed protocol supervised by veterinary cardiologists for performing echocardiography in the rabbit model, and demonstrate how to correctly obtain the different echocardiographic views and imaging planes, as well as the different imaging modes available in a clinical echocardiography system routinely used in human and veterinary patients.

Here we describe, step by step, a detailed protocol for performing echocardiography in the rabbit model. We show how to correctly obtain the different echocardiographic views and imaging planes, as well as the different imaging modes available in a clinical echocardiography system routinely used in human and veterinary patients.

Exame ecocardiográfico transtorácico no modelo coelho

Large animal models such as the rabbit are valuable for translational preclinical research. Rabbits have a similar cardiac electrophysiology compared to ...

Investigando novos mecanismos de disfunção microvascular em humanos

Intradermal Microdialysis: An Approach to Investigating Novel Mechanisms of Microvascular Dysfunction in Humans

The cutaneous vasculature is an accessible tissue that can be used to assess microvascular function in humans. Intradermal microdialysis is a minimally invasive technique used to investigate mechanisms of vascular smooth muscle and endothelial function in the cutaneous circulation. This technique allows for the pharmacological dissection of the pathophysiology of microvascular endothelial dysfunction as indexed by decreased nitric oxide-mediated vasodilation, an indicator of cardiovascular disease development risk. In this technique, a microdialysis probe is placed in the dermal layer of the skin, and a local heating unit with a laser Doppler flowmetry probe is placed over the probe to measure the red blood cell flux. The local skin temperature is clamped or stimulated with direct heat application, and pharmacological agents are perfused through the probe to stimulate or inhibit intracellular signaling pathways in order to induce vasodilation or vasoconstriction or to interrogate mechanisms of interest (co-factors, antioxidants, etc.). The cutaneous vascular conductance is quantified, and mechanisms of endothelial dysfunction in disease states can be delineated.

Autor em destaque: uma abordagem de farmacodissecção para descobrir mecanismos em populações de risco de doenças cardiovasculares 

Intradermal microdialysis is a minimally invasive technique used to investigate microvascular function in health and disease. Both dose-response and local heating protocols can be utilized for this technique to explore mechanisms of vasodilation and vasoconstriction in the cutaneous circulation.

Microdiálise Intradérmica: Uma Abordagem para Investigação de Novos Mecanismos de Disfunção Microvascular em Humanos

The cutaneous vasculature is an accessible tissue that can be used to assess microvascular function in humans. Intradermal microdialysis is a minimally ...