No description available.

Abstract available in the Journal of Investigative Medicine.

ZUGZWANG is a proof-of-concept short horror film following Ian Sepela, a man being haunted by the Shadow Man, a sleep paralysis demon. He must confront his past to save himself and his mother from the Shadow Man’s clutches or lose their lives just like he’d lost his father’s to the Shadow Man twenty years prior.

Le virus de la paralysie chronique de l'abeille (Chronic bee paralysis virus, CBPV) est l'agent étiologique d'une maladie infectieuse et contagieuse des abeilles adultes (Apis mellifera L.), appelée la paralysie chronique. Le CBPV est un virus à ARN simple brin positif qui contient 2 fragments d'ARN majoritaires. L'ARN 1 (3674 nt) et l'ARN 2 (2305 nt) codent respectivement 3 et 4 cadres ouverts de lecture (ORF). La séquence d'acides aminés de l'ORF 3 de l'ARN 1 partage des similitudes avec l'ARN polymérase ARN dépendante (RdRp) des virus des familles Nodaviridae et Tombusviridae. Par analogie avec ces familles virales, il a été suggéré que l'ARN 1 coderait les protéines non-structurales tandis que l'ARN 2 coderait les protéines structurales. Cependant, la réalité de ces protéines virales doit être démontrée expérimentalement afin d'étudier leurs fonctions, de mieux décrire ce virus et sa position taxonomique ainsi que d'améliorer les outils de diagnostic. Dans ce but, différentes approches expérimentales ont été utilisées. Une comparaison des protéomes d'hémolymphe d'abeilles non-infectées et infectées par le CBPV a été effectuée. Les protéines différentiellement exprimées ont été identifiées par empreinte peptidique massique (peptide mass fingerprint, PMF). Cette étude a permis d'identifier des protéines de l'abeille dont certaines contribueraient à une réponse immunitaire antivirale, mais aucune protéine virale n'a été identifiée par cette approche. Les ARN extraits du CBPV ont été utilisés dans des expériences de traduction in vitro. Malgré plusieurs essais réalisés en faisant varier les conditions expérimentales, cette approche s'est révélée infructueuse. / Chronic bee paralysis virus (CBPV) is the etiological agent that causes an infectious and contagious disease in adult bees (Apis mellifera L.), called chronic paralysis. CBPV is a positive single-stranded fragmented RNA virus which contains 2 major viral RNA fragments. RNA 1 (3674 nt) and RNA 2 (2305 nt) encode 3 and 4 putative open reading frames (ORFs), respectively. The amino acid sequence of ORF 3 on RNA 1 shares similarities with the RNA-dependent RNA polymerase (RdRp) of virus families Nodaviridae and Tombusviridae. By analogy with these viral families, it has been suggested that RNA 1 encodes non-structural proteins and RNA 2 encodes structural proteins. However, the reality of viral proteins needs to be experimentally demonstrated in order to study theirs functions, to describe CBPV biology and its taxonomic position and to improve diagnostic tools. With this aim, different experimental strategies have been used.A comparison of hemolymph proteomes between uninfected bees and bees infected with CBPV was performed. Differentially expressed proteins have been identified using peptide mass fingerprint method (PMF). This study allowed only identifying proteins of bees which could contribute to an antiviral immune response but viral proteins were not identified using this approach. Extracted CBPV RNAs were used for in vitro translation experiments. Despite several assays in varying experimental conditions, this approach has been unsuccessful. Another approach was to generate antibodies directed against different proteins or parts of viral proteins.

Diss. (sammanfattning) Stockholm : Karolinska institutet, 2006. / Härtill 4 uppsatser.

Hyperkalemic periodic paralysis is characterized by myotonic discharges followed by paralysis. Caused by a mutation in the gene encoding for NaV1.4 channel, patients do not experience symptoms during infancy, but the onset starts between 1-10 years of age. The symptoms severity then increases with age until adolescence. A large increase in gene expression marked by an increase in oxidative capacity of muscles has also been reported in HyperKPP. It is possible that the onset of symptoms is related solely to NaV1.4 channel content/activity reaching a critical level. It is also possible that the onset of some symptoms are due to defective NaV1.4, while other symptoms and the increase in severity with age are related to changes in membrane components as a result of changes in gene expression. To test these possibilities, the progression of paralysis and changes in fiber types were followed with age in HyperKPP mice in relation to changes in NaV1.4 content and activity. Changes in fiber types (index of changes in gene expression), started after the onset of paralysis was observed, which coincided with NaV1.4 channels reaching maximum expression. Therefore, the onset of symptoms was related to defective NaV1.4 channels.

[pt] O Presente trabalho constitui um estudo baseado em uma pesquisa exploratória de cunho qualitativo sobre as representações de alunos portadores de Paralisia Cerebral, construídas pelos professores de escolas regulares do segundo segmento do ensino fundamental, em escolas municipais do Rio de Janeiro, que realizam a inclusão de alunos portadores de Paralisia Cerebral. Para analisar estas representações nos utilizamos entrevistas semiestruturadas, com professores que realizavam a inclusão destes alunos em sua classe e com professores que ainda não tinham vivido esta experiência, onde se evidenciaram basicamente duas posições antagônicas: professores que sustentavam opiniões a favor da inclusão destes alunos pontuando os aspectos positivos e professores que se mostraram contra e até mesmo insatisfeitos em terem que incluir este aluno, demonstrando, algumas vezes um olhar preconceituoso. Este estudo também nos mostrou que há pouco conhecimento por parte dos professores entrevistados a respeito do que vem a ser a Paralisia Cerebral e do real potencial destes alunos. O resultado da análise dessa pesquisa nos faz constatar que apesar do paradigma da inclusão estar presente nas escolas onde realizamos as entrevistas, ainda existe nestas instituições professores que são inflexíveis, não buscam soluções para as dificuldades, preferindo não se comprometer com a questão, sugerindo até, algumas vezes, que se retroceda ao ensino segregado. / [en] The present work is a study based on a qualitative approach of an exploratory qualitative research, about the representations, about handicap students with Cerebral Palsy, developed by teachers of the regular government high schools that receive these particular students, in Rio de Janeiro Municipality. To analyze these representations, we have realized interviews, with teachers which work with these handicap students in their classes and with others that hadn t lived that experience yet. From these interviews, came up two antagonist postures: teachers that sustained opinions in behalf of the presence of these students in a regular school, emphasizing the positive points, and others that were against and even unhappy to work with them, showing a preconceived attitude. This study has also showed us that the interviewed teachers had very little knowledge about the Cerebral Palsy problem and about the real potential of these studentsThe result of the analisys of this research showed us that despite the paradigm of inclusion is present in the high schools, where we have realized the interviews, there are still in these institutions, inflexible teachers which are not interested to find out solutions for difficulties, preferring not to be involved with the question, even suggesting, sometimes, to retrocede to the segregated education.

O desenvolvimento de um método eficiente de avaliação prognóstica precoce seria de grande utilidade na seleção de lactentes com plexopatia braquial obstétrica para cirurgias de reconstrução do plexo braquial. Realizamos estudos de condução motora em 54 pacientes entre 10 e 60 dias de vida. Foram comparadas lado a lado as amplitudes dos potenciais de ação musculares compostos dos nervos axilar (músculo deltóde), musculocutâneo (músculo bíceps), radial proximal (músculo tríceps), radial distal (músculo extensor comum dos dedos), mediano (eminência tenar) e ulnar (eminência hipotenar). A relação entre a amplitude do potencial motor do lado lesado sobre o lado são foi chamada de Índice de Viabilidade Axonial (IVA), sendo este calculado tanto a partir da amplitude negativa como da amplitude pico-a-pico. Os pacientes foram seguidos clinicamente e classificados em três grupos: Grupo A, com recuperação total até os seis meses de vida; Grupo B, recuperação satisfatória até os doze meses de vida, e Grupo C, recuperação insatisfatória até os doze meses de vida. Analisamos a curva ROC (Receive Operator Characteristic Curve) de cada IVA para definir o melhor ponto de corte para detecção dos pacientes do Grupo C (mau prognóstico). Para o nervo axilar, o ponto de corte ideal foi IVA menor que 10%, com sensibilidade de 88,2% e especificidade de 89,2% ou 91,9%. Para o nervo musculocutâneo, o ponto de corte foi a ausência de potencial de ação motor, com sensibilidade de 88,2% e especificidade de 73,0%. Para o nervo radial proximal, o ponto de corte foi IVA menor que 20%, com sensibilidade de 82,4% ou 94,1% e especificidade de 97,3% ou 100%. Para o nervo radial distal, o ponto de corte foi IVA menor que 50%, com sensibilidade de 76,5% ou 82,4% e especificidade de 97,3%. Para o nervo ulnar, o ponto de corte foi IVA menor que 50%, com sensibilidade de 58,8% e especificidade de 97,3% ou 100%. O IVA do nervo mediano teve um desempenho ruim e seu uso não pode ser recomendado. Os IVAs dos nervos radial proximal, radial distal e ulnar apresentaram maior especificidade do que o critério clínico mais utilizado para a avaliação prognóstica, ou seja, ausência de função bicipital aos três meses de vida. A sensibilidade dos IVAs dos nervos axilar, musculocutâneo, radial proximal e radial distal foram equivalentes à do critério clínico. A utilização do estudo de condução motora entre 10 e 60 dias de vida forneceu uma avaliação prognóstica mais precoce e mais específica do que o critério clínico, podendo ser utilizada para indicação cirúrgica destes pacientes. / Early prognostic assessment of obstetric brachial plexopathies would be a major step for rational selection of infants for brachial plexus surgery. We performed nerve conduction studies in 54 patients from 10 to 60 days of life. We compared sideto-side the compound muscle action potentials amplitudes from the axillary (deltoid muscle), musculocutaneous (biceps), proximal radial (triceps), distal radial (extensor digitorum communis), median (thenar eminence) and ulnar nerves (hypothenar eminence). The ratio between the amplitude of the affected limb and that of the healthy side was called Viability Axonal Index (VAI), which was calculated using both the negative and the peak-to-peak amplitudes. The patients were followed-up and classified in three groups: Group A, with full recovery at six months of age; Group B, with satisfactory recovery at twelve months of age, and Group C, with poor recovery at twelve months of age. We analyzed the ROC (Receive Operator Characteristic) curve of each VAI to define the best cut-off point for detection of Group C patients (bad prognosis). The best cut-off point for the axillary nerve was a VAI of less than 10%, whith sensibility of 88.2% and specificity of 89.2% or 91.9%. For the musculocutaneous nerve, the cut-off point was an absent motor action potential, with sensibility of 88.2% and specificity of 73.0%. For the proximal radial nerve, the cut-off point was a VAI of less than 20%, with sensibility of 82.4% or 94.1% and specificity of 97.3% or 100%. For the distal radial nerve, the cut-off point was a VAI of less than 50%, with sensibility of 76.5% or 82.4% and specificity of 97.3%. For the ulnar nerve, the cut-off point was a VAI of less than 50%, which sensibility of 58.8% and specificity of 97.3% or 100%. The VAI from the median nerve had a poor performance and its use could not be recommended. The VAIs from proximal radial, distal radial and ulnar nerves had better specificities compared to the most used clinical criterion: absence of biceps function at three months of age. The VAIs sensitivities from axillary, musculocutaneous, proximal radial and distal radial nerves were equivalent to the clinical criterion. The use of motor conduction studies between 10 and 60 days of age yielded an earlier and more specific prognostic estimation than the clinical criterion, and could be used for indication of surgery in these patients.

Objetivo: O objetivo do estudo foi a proposição de um protocolo de cooperação fonoaudiológica para nasofibrolaringoscopia funcional de pacientes com imobilidade de prega vocal pós-tireoidectomia (PNF), visando a composição de um instrumento objetivo, preciso e consensual para avaliação. Métodos: A primeira versão do protocolo foi elaborada a partir de fundamentação bibliográfica; o protocolo foi julgado em duas instâncias pelo método de triangulação por seis juízes em três etapas; foi constituída uma versão piloto do protocolo e aplicada em 11 pacientes; houve novo julgamento de médicos e fonoaudiólogos; a partir da concordância dos juízes, após a aplicação do piloto foi construída a versão final do PNF. Resultados: O protocolo final foi composto por duas partes. A primeira parte, considerada o procedimento padrão, composta por 4 itens imprescindíveis que devem, necessariamente, ser avaliados são: inspiração normal; inspiração forçada; vogal /é/ isolada e sustentada e vogal /i/ aguda isolada e sustentada. A segunda parte, considerada de complementação fonoaudiológica é composta pelos itens que são entendidos como importantes para os fonoaudiólogos como fatores informativos ou preditivos para a eficácia da terapia. Esses itens são: vogal /é/ sustentada e fraca; vogal /é/ sustentada e aguda; vogal /é/ sustentada e grave; vogal /é/ curta com ataque vocal brusco. Conclusões: O PNF, em sua versão final, contribui para a sistematização dos procedimentos de avaliação fundamentados em evidências e concordâncias profissionais e resulta na descrição de itens a serem solicitados durante a avaliação médica e fonoaudiológica no exame de nasofibrolaringoscopia da alteração da mobilidade laríngea em doenças da tireóide / Purpose: The purpose of the study was to propose a cooperation speechlanguage protocol for the functional fiberoptic laryngoscopy of the vocal folds immobility after thyroidectomy (PNF), with the intention of having an objective, precise and consensual instrument for this assessment. Method: The first version of the protocol was elaborated based on data found in the literature; the protocol was judged in two instances, using the triangulation method, by six judges in three moments; a pilot version was presented and applied in 11 patients; it was then judged again by doctors and speech-language pathologists; based on the analysis of the judges and after the application of the pilot version, the final version of the PNF was proposed. Results: The final protocol was composed by two parts. The first part, considered a standard procedure, is composed by 4 essential items that necessarily should be evaluated: normal inspiration; forced inspiration; vowel /é/ isolated and sustained; and sharp vowel /i/, isolated and sustained. The second part, considered a speech-language complementation, is composed by items that should be understood as being important for speech-language pathologists as they are informative or predictive of the effectiveness of therapy: vowel /é/ sustained and weak; vowel /é/ sustained and sharp; vowel /é/ sustained and deep; vowel /é/ short with abrupt vocal onset. Conclusions: The PNF, in its final version, contributes for the systematization of the assessment procedures based on evidence and on the agreement of professionals it results in the description of items to be obtained during medical and speech-language assessment during the fiberopticlaryngoscopy evaluation of larynx mobility in thyroid illnesses.

Introdução: a paralisia facial periférica (PFP) é caracterizada por lesão geralmente unilateral do nervo facial em qualquer parte de seu trajeto. Na paralisia total há perda dos movimentos de todos os segmentos da hemiface ipsilateral à lesão. Clinicamente observa-se que a maioria dos pacientes com PFP em fase flácida apresenta dificuldade para mastigar do lado paralisado, pois a manutenção dos alimentos entre as arcadas dentárias está comprometida pela falta de participação do músculo bucinador. Aliada a isso pode ocorrer incompetência labial devido à flacidez da hemiface afetada em conseqüência à queda da comissura labial ipsilateral. Objetivo: verificar as conseqüências da PFP unilateral na fase flácida, com duração de pelo menos seis meses, na função mastigatória quanto a preferência clínica mastigatória e diferença eletromiográfica entre os masseteres.Casuística e Método: foram selecionados 27 indivíduos de ambos os gêneros, com PFP em fase flácida com pelo menos seis meses de paralisia, com idade entre 16 anos e 67 anos, com dentição natural permanente, selecionados por um protocolo específico, complementado com exame clínico miofuncional e avaliação eletromiográfica de superfície nos músculos masseteres nas provas de aperto dentário e mastigação habitual. Resultados: de acordo com as respostas da anamnese, 77,8% dos pacientes referiram mastigar preferencialmente do lado sadio. Clinicamente, 70% apresentaram preferência mastigatória. A atividade muscular dos bucinadores e orbicular da boca foi estatisticamente significante (p = 0,025) entre os lados sadio e paralisado. Apenas, 22,2% dos pacientes apresentou diminuição de massa do masseter do lado paralisado. Não houve diferença eletromiográfica estatisticamente significante entre os lados sadio e paralisado nos masseteres. Conclusão: no presente estudo, pacientes com PFP unilateral na fase flácida, com duração de pelo menos seis meses, apresentaram preferência clínica mastigatória pelo lado sadio. Não houve diferença clínica e eletromiográfica entre os lados paralisado e sadio nos músculos masseteres / Introduction: peripheral facial paralysis (PFP) usually affects the facial nerve in part or in whole on one side of the face. Most patients with PFP find it difficult to chew on the paralyzed side, especially due to compromised buccinator function. In addition, the sagging of the ipsilateral lip commissure tends to compromise lip competence. In spite of the importance of these associations, the literature on mastication difficulties in PFP patients is scarce, perhaps because the facial nerve has conventionally been considered to be responsible primarily for facial expression. Objective: to evaluate the impact of long-standing peripheral facial nerve paralysis upon mastication, regarding to clinical mastication preference besides clinical and electromyographic activity of the masseters. Method: the study included 27 male and female subjects aged 1669 years with permanent natural dentition and long-standing PFP. Patients answered questions on their mastication habits before and after onset of PFP and were submitted to clinical myofunctional examination and electromyographical tests of the masseters during clenching and habitual mastication. Results: according to the anamnesis, 77.8% claimed to prefer chewing on the unaffected side. Clinically, 70% presented a lateral preference in mastication. In the clinical evaluation, the buccinators and orbicularis oris activity differed significantly (p = 0.025) between the healthy and the paralyzed side. Only 22.2% of the patients presented increased thickness of the contralateral masseters. No statistical significant electromyographic difference was observed between the affected and unaffected masseters. Conclusion: in general, subjects with flaccid-stage PFP for 6 months or longer preferred to masticate on the unaffected side. No significant clinical or electromyographic differences were found between the affected and unaffected side masseter in this patient population