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  • About
  • The Global ETD Search service is a free service for researchers to find electronic theses and dissertations. This service is provided by the Networked Digital Library of Theses and Dissertations.
    Our metadata is collected from universities around the world. If you manage a university/consortium/country archive and want to be added, details can be found on the NDLTD website.
11

Situações de ansiedade aumentam a frequência e a gravidade do espasmo hemifacial? / Do anxiety situations increase the frequency and severity of hemifacial spasm?

Barbosa, Herculano Roberto Ricordi 08 November 2018 (has links)
O espasmo hemifacial (EHF) é caracterizado por movimentos involuntários que acometem músculos inervados pelo nervo facial. O EHF primário é mais comum, e ocorre geralmente devido o contato entre o nervo facial e um vaso da fossa posterior do crânio. Os espasmos faciais causam embaraço social e podem comprometer funções da vida diária. Situações de ansiedade são descritas com frequência como fator de piora da gravidade dos espasmos faciais. Apesar disso, não há estudos que tenham avaliado de forma objetiva a influência da ansiedade aguda no EHF. Objetivos: Avaliar se há aumento na gravidade dos espasmos faciais, quando pacientes com EHF primário são submetidos a uma situação experimental que induz ansiedade. Casuística e Métodos: Foram avaliados 60 pacientes com EHF primário, de um serviço terciário de distúrbio de movimento. Inicialmente, foi realizada a caracterização clínica e epidemiológica, incluindo investigação da presença de sintomas psiquiátricos como ansiedade não específica e ansiedade social. Posteriormente, os pacientes foram submetidos a uma situação experimental que induz ansiedade de forma controlada, o teste de simulação ao falar em público (TSFP), com filmagem da face durante o procedimento, para avaliação dos espasmos faciais. Resultados: O TSFP foi um instrumento eficiente para indução de ansiedade na amostra de indivíduos com EHF primário. Os maiores níveis de ansiedade foram observados durante o desempenho do discurso. Os participantes relataram piora subjetiva dos espasmos faciais com o teste, e esse desconforto se manteve mesmo após o fim do discurso. A avaliação objetiva dos espasmos demonstrou aumento significativo na intensidade dos movimentos involuntários, sobretudo na primeira fase do discurso. Conclusões: Pacientes com EHF primário apresentam aumento na gravidade dos espasmos faciais em situações agudas de ansiedade. Ademais, esse comportamento ocorre independente das características psíquicas de base dos pacientes que apresentam a patologia / Hemifacial Spasm (HFS) is an involuntary movement disorder that affects muscles innervated by the facial nerve. Primary HFS is more common and usually occurs due to the conflict between facial nerve and a vessel of the posterior fossa of the skull. Facial spasms cause social embarrassment and may compromise functions of daily living. HFS patients often describe an increase in facial spasms during anxiety situations. Nevertheless, previous studies have not assessed the influence of acute anxiety on HFS. Objectives: To evaluate if facial spasms worse when patients with primary HFS take part in an experimental situation that induces controlled anxiety. Casuistic and Methods: The research evaluated sixty patients with primary HFS from a tertiary movement disorder service. First, we performed a clinical and epidemiological description of patients, including the investigation of psychiatric symptoms such as nonspecific anxiety and social anxiety. After that, we submitted patients to an experimental situation that induces anxiety in a controlled way, the simulated public speaking test. We filmed the face of de patients during the procedure to evaluate facial spasms. Results: The simulated public speaking test efficiently induces anxiety in the sample individuals with primary HFS. There were higher levels of anxiety during the speech performance. Patients reported a subjective worsening of facial spasms during the test, and the symptoms remained severe even after the end of the speech. There was a significant increase in the degree of involuntary movements in objective evaluation of spasms, especially in the first phase of speech. Conclusions: Patients with primary HFS show worsening of facial spasms in acute anxiety situations. In addition, the increase in involuntary movements does not depend on psychic features of the subjects with HFS
12

Situações de ansiedade aumentam a frequência e a gravidade do espasmo hemifacial? / Do anxiety situations increase the frequency and severity of hemifacial spasm?

Herculano Roberto Ricordi Barbosa 08 November 2018 (has links)
O espasmo hemifacial (EHF) é caracterizado por movimentos involuntários que acometem músculos inervados pelo nervo facial. O EHF primário é mais comum, e ocorre geralmente devido o contato entre o nervo facial e um vaso da fossa posterior do crânio. Os espasmos faciais causam embaraço social e podem comprometer funções da vida diária. Situações de ansiedade são descritas com frequência como fator de piora da gravidade dos espasmos faciais. Apesar disso, não há estudos que tenham avaliado de forma objetiva a influência da ansiedade aguda no EHF. Objetivos: Avaliar se há aumento na gravidade dos espasmos faciais, quando pacientes com EHF primário são submetidos a uma situação experimental que induz ansiedade. Casuística e Métodos: Foram avaliados 60 pacientes com EHF primário, de um serviço terciário de distúrbio de movimento. Inicialmente, foi realizada a caracterização clínica e epidemiológica, incluindo investigação da presença de sintomas psiquiátricos como ansiedade não específica e ansiedade social. Posteriormente, os pacientes foram submetidos a uma situação experimental que induz ansiedade de forma controlada, o teste de simulação ao falar em público (TSFP), com filmagem da face durante o procedimento, para avaliação dos espasmos faciais. Resultados: O TSFP foi um instrumento eficiente para indução de ansiedade na amostra de indivíduos com EHF primário. Os maiores níveis de ansiedade foram observados durante o desempenho do discurso. Os participantes relataram piora subjetiva dos espasmos faciais com o teste, e esse desconforto se manteve mesmo após o fim do discurso. A avaliação objetiva dos espasmos demonstrou aumento significativo na intensidade dos movimentos involuntários, sobretudo na primeira fase do discurso. Conclusões: Pacientes com EHF primário apresentam aumento na gravidade dos espasmos faciais em situações agudas de ansiedade. Ademais, esse comportamento ocorre independente das características psíquicas de base dos pacientes que apresentam a patologia / Hemifacial Spasm (HFS) is an involuntary movement disorder that affects muscles innervated by the facial nerve. Primary HFS is more common and usually occurs due to the conflict between facial nerve and a vessel of the posterior fossa of the skull. Facial spasms cause social embarrassment and may compromise functions of daily living. HFS patients often describe an increase in facial spasms during anxiety situations. Nevertheless, previous studies have not assessed the influence of acute anxiety on HFS. Objectives: To evaluate if facial spasms worse when patients with primary HFS take part in an experimental situation that induces controlled anxiety. Casuistic and Methods: The research evaluated sixty patients with primary HFS from a tertiary movement disorder service. First, we performed a clinical and epidemiological description of patients, including the investigation of psychiatric symptoms such as nonspecific anxiety and social anxiety. After that, we submitted patients to an experimental situation that induces anxiety in a controlled way, the simulated public speaking test. We filmed the face of de patients during the procedure to evaluate facial spasms. Results: The simulated public speaking test efficiently induces anxiety in the sample individuals with primary HFS. There were higher levels of anxiety during the speech performance. Patients reported a subjective worsening of facial spasms during the test, and the symptoms remained severe even after the end of the speech. There was a significant increase in the degree of involuntary movements in objective evaluation of spasms, especially in the first phase of speech. Conclusions: Patients with primary HFS show worsening of facial spasms in acute anxiety situations. In addition, the increase in involuntary movements does not depend on psychic features of the subjects with HFS
13

Capacidade de reconhecimento facial de emoções em pacientes com espasmo hemifacial / Capacity for facial recognition of emotions in patients with hemifacial spasm

Schwam Junior, José Guilherme 01 March 2019 (has links)
Introdução: O espasmo hemifacial (EHF) é um distúrbio do movimento caracterizado por contrações tônicas e/ou clônicas, involuntárias e irregulares, dos músculos de uma hemiface inervados pelo nervo facial ipsilateral. Por acometer a face, região em que majoritariamente expressamos nossas emoções, uma doença que altere a sua motricidade fisiológica pode gerar dificuldades não só de expressão mas também de interpretação das emoções faciais, com consequente prejuízo psicossocial a estes indivíduos. Objetivo: avaliar a capacidade de reconhecimentos facial de emoções dos indivíduos com EHF do ambulatório de toxina botulínica do Hospital de Clínicas da USP de Ribeirão Preto. Métodos: 51 pacientes com EHF foram selecionados e avaliados quanto à sua capacidade de reconhecimento facial das 6 emoções básicas propostas por Ekman, através de um teste dinâmico preto e branco exposto em um programa de computador em uma tela touch screen. Os resultados foram analisados e comparados com outros 51 indivíduos do grupo controle, pareados por idade, sexo e escolaridade. Resultados: De maneira geral, verificou-se que indivíduos com pior frequência e gravidade dos espasmos hemifaciais avaliados pela escala de Jankovic apresentaram maior número de acertos sobre a emoção \"nojo\" e aqueles com pior assimetria facial pela escala de Sunnybrook, tiveram menor número de respostas corretas para a emoção \"surpresa\". Conclusão: Pacientes com EHF mais graves tendem a denotar mais facilmente a emoção \"nojo\" e aqueles com faces mais assimétricas, tem maior dificuldade em denotaram a emoção \"surpresa\". Isso pode corroborar para possíveis prejuízos psicossociais na vida destes pacientes, devendo o neurologista assistente atentar-se não somente para o distúrbio do movimento que se apresenta, mas também por seus possíveis efeitos deletérios no convívio social daqueles / Introduction: Hemifacial spasm (HFS) is a movement disorder characterized by involuntary and irregular tonic and / or clonic contractions of the muscles of a hemiface innervated by the ipsilateral facial nerve. Because it affects the face, the region in which we express our emotions, a disease that affects physiological motility may lead to difficulties not only in expression but also in the interpretation of facial emotions, with consequent psychosocial damage to these individuals. Objective: to evaluate the facial recognition abilities of individuals with FHD at Botulinum toxin outpatient clinic of Clinical Hospital, USP, Ribeirão Preto. Methods: Fifty-one patients with HFS were selected and evaluated for their facial recognition ability of the six basic emotions proposed by Ekman through a dynamic black-and-white test exposed in a computer on a touch screen. The results were analyzed and compared with 51 other individuals in the control group, matched by age, sex and schooling. Results: In general, it was verified that individuals with worse frequency and severity of the hemifacial spasms evaluated by the Jankovic scale had a greater number of correct answers about the emotion \"disgusted\" and those with worse facial asymmetry by the Sunnybrook scale, had less number of correct answers to the \"surprise\" emotion. Conclusion: Patients with EHF of worse severity and frequency tend to perceive more easily the \"disgust\" emotion and those with more asymmetrical faces, have more difficulty in denoting the \"surprise\" emotion. This may corroborate possible psychosocial impairments in the life of these patients, and the assistant neurologist should be aware not only of the movement disorder that is present, but also of their possible deleterious effects on their social life
14

Medidas de óxido nítrico no ar exalado de pacientes com história prévia de broncoespasmo no período intra-operatório / Exhaled nitric oxide measure from patients with previous history of intraoperative bronchospasm.

Beatriz Mangueira Saraiva 11 March 2008 (has links)
INTRODUÇÃO: Pacientes com vias aéres hiperresponsivas têm uma resposta exarcebada das vias aéreas a vários estímulos. Nestes pacientes, a simples intubação é a causa mais freqüente do broncoespasmo, levando a complicações no peri-operatório. O óxido nítrico está envolvido na regulação da função fisiológica bem como em doenças das vias aéreas e nos últimos anos seu papel vem sendo constantemente estudado na modulação da broncoconstrição. OBJETIVO: Estudar a possibilidade da medida de óxido nítrico exalado (NOex) ser um marcador de episódios de broncoespasmo no intra-operatório. MÉTODOS: 146.358 fichas anestésicas foram analisadas no período de 1999/2004. Ocorreram registros de broncoespasmos em 863 pacientes neste período. Destas, nove sujeitos foram identificados como não asmáticos (grupo broncoespasmo), 12 sujeitos foram diagnosticados como asmáticos (grupo asma) e 10 indivíduos sem história prévia de doença foram selecionados aleatoriamente como grupo controle. Todos os sujeitos foram submetidos à medida de óxido nítrico exalado (partes/bilhão), espirometria e coleta de escarro induzido com salina hipertônica. Os dados foram comparados utilizando ANOVA seguido do teste de Tukey e Kruskal-Wallis seguido do teste de Dunn\'s. RESULTADOS: Os grupos broncoespasmo e controle apresentaram espirometria normal, com medidas estatísticamente diferentes do grupo asma (p <0,05). As porcentagens de eosinófilos (mediana) no escarro induzido foram maiores no grupo asma [2,5 (0,4-6,8)], menores no grupo broncoespasmo [0,5 (0-1,3), e grupo controle [0,0 (0)]. A medida de óxido nítrico exalado foi maior no grupo dos asmáticos [81,5 (57,6-86,8)] em relação aos controles [18,7 (16,0-24,7)] (p=0,001). Não houve diferença entre grupos broncoespasmo e asma, ambos significantemente diferentes do grupo controle (p <0,05). CONCLUSÃO: Pacientes não asmáticos que apresentaram broncoespasmo no intra-operatório durante a anestesia e manipulação da traquéia, possuem níveis de óxido nítrico no ar expirado exalado elevado. / INTRODUCTION: Airways of patients with bronchial hyperreactivity are characterized by exaggerated bronchoconstriction in response to a variety of stimuli. Henceforth, bronchospasm may occur during induction of anaesthesia. Nitric Oxide is part of either physiologic or pathophysiologic airway regulation and its role has been investigated as a bronchoconstrictior modulator. OBJECTIVE: to address the possibility of exhaled nitric oxide measurement (NOex) as a marker of intraoperative bronchospasm. METHODS: 146.358 anesthesia registered forms were revised (period: 1999/2004). Bronchospasm occurrence appeared registered in 863. From those, nine were identified as non-asthmatics patients (Bronchospasm group). Also, 12 asthmatics constituted one additional group (Asthma group) and 10 subjects with no previous airway disease or symptoms were randomly selected as control group. All subjects were submitted to exhaled nitric oxide measurements (parts/billion), spirometry and induced sputum. The data were compared by ANOVA followed by the Tukey test and Kruskal- Wallis followed by Dunn\'s test. RESULTS: Both bronchospasm and control groups had normal lung function test, different from asthma group (p <0.05). The percentage of eosinophils (median) in induced sputum was higher for asthma [2.5 (0.4-6.8)] lower for bronchospasm [0.5 (0-1.3)] and control group [0.0 (0)]. Exhaled Nitric Oxide was higher for asthmatic patients [81.5 (57.6-86.8)], compared to control group [18.7 (16.0-24.7)] (p=0.001). There was no difference between bronchospasm and asthma groups both different from control (p <0.05). CONCLUSION: non-asthmatics patients with intraoperative bronchospasm detected during anesthesia after airway manipulation showed higher nitric oxide expired levels.
15

Kounis Syndrome

Lopez, Pablo R., Peiris, Alan N. 01 November 2010 (has links)
The association between acute coronary events and acute allergic reactions has been recognized for several years. The first reported case occurred in 1950, during an allergic reaction to penicillin. In 1991, Kounis and Zavras described the syndrome of allergic angina and allergic myocardial infarction, currently known as Kounis syndrome. Two subtypes have been described: type I, which occurs in patients without predisposing factors for coronary artery disease and is caused by coronary artery spasm, and type II, which occurs in patients with angiographic evidence of coronary disease when the allergic events induce plaque erosion or rupture. This syndrome has been reported in association with a variety of medical conditions, environmental exposures, and medication exposures. Entities such as Takotsubo cardiomyopathy, drug-eluted stent thrombosis, and coronary allograft vasculopathy appear to be associated with this syndrome. In this review, we discuss the pathobiology, clinical features, associated entities, and management of Kounis syndrome.
16

Aspectos clínicos, demográficos e neurocomportamentais em pacientes com espasmo hemifacial / Clinical, demographic and neurobehavioral aspects in patients with hemifacial spasm

Cardoso Júnior, João Alves 06 September 2018 (has links)
O espasmo hemifacial (EHF) é um distúrbio de movimento caracterizado por contrações tônico ou clônicas involuntárias, unilaterais, intermitentes e irregulares dos músculos inervados pelo nervo facial ipsilateral. Apesar de considerado como um transtorno benígno, promove influência significativa na qualidade de vida dos portadores através do comprometimento funcional físico e emocional que promove, englobando, desde o prejuízo na leitura e outras funções visuais, até o constrangimento social e distúrbios psiquiátricos associados, como depressão e ansiedade. Objetivo.: Descrever as características clínicas e demográficas, assim como a frequência de sintomas psiquiátricos de ansiedade generalizada, social e depressão, e a relação destes sintomas com a qualidade de vida nesta amostra de pacientes. Métodos.: 111 pacientes portadores de EHF primário foram avaliados. Foi aplicado questionário geral para coleta de dados demográficos e clínicos associados a evolução e tratamento do distúrbio de movimento com toxina botulínica. Os sintomas psiquiátricos foram avaliados através de escalas validadas para a população brasileira. A avaliação de qualidade de vida foi através de escala específica validada para avaliação funcional nos portadores de EHF. Resultados.: A idade média de início foi de 49±13,1 (intervalo: 12 -77) e tempo de evolução até o diagnóstico de 3±1,5 anos, com predomínio no sexo feminino (2,08:1). O lado esquerdo foi afetado em 61 (54,9%) pacientes e o músculo orbicular dos olhos foi o primeiro acometido na maioria dos casos (85,5%). Grande parte (n=87) referiu início insidioso e evolução gradual. Nervosismo, estresse e ansiedade são importantes contribuintes de piora do espasmo, relatado por mais de 82% (n=92) dos portadores de EHF, e momentos de relaxamento, tranquilidade, descanso e atividades de lazer foram responsáveis por aliviar o espasmo em 57 entrevistados. Mais de 90% (n=96) perceberam melhora importante do espasmo após aplicação de TXB, e 24,5% (n=26) relataram algum efeito adverso em última aplicação, sendo assimetria labial e ressecamento ocular os mais frequentes. Sobre os sintomas psiquiátricos, 41,7% (n=45) apresentavam pontuações que sugerem algum grau de depressão, até 56,4% (n=57) ansiedade generalizada e 34,2% (n=38) ansiedade ou fobia social. A leitura como domínio funcional físico e a vergonha, a tristeza e a preocupação com reação de outras pessoas foram os maiores prejuízos funcionais descritos nesses pacientes. Conclusão.: As características clínicas e demográficas nos pacientes com EHF se assemelham a outras evidências descritas na literatura, assim como uma maior frequência de sintomas de depressão, ansiedade generalizada e fobia social nesta população. Os sintomas psiquiátricos, mais do que a gravidade do espasmo, apresentaram uma maior correlação com a qualidade de vida nesta amostra de pacientes. / Hemifacial spasm (HFS) is a movement disorder characterized by involuntary, unilateral, intermittent, tonic or clonic contractions of muscles innervated by the ipsilateral facial nerve. Although considered as a benign disorder, it promotes a significant influence on the quality of life of the patients through the physical and emotional impairment it promotes, ranging from impairment in reading and other visual functions to social embarrassment, and associated psychiatric disorders, such as depression and anxiety. Objective.: To describe the clinical and demographic characteristics, as well as the frequency of psychiatric symptoms of generalized anxiety, social anxiety and depression, and the relation of these symptoms with quality of life in this sample of patients. Methods.: 111 patients with primary HFS were evaluated. A general questionnaire was used to collect demographic and clinical data associated with the evolution and treatment of the movement disorder with botulinum toxin (BTX). The psychiatric symptoms were evaluated through scales validated for the Brazilian population. The quality of life assessment was based on a specific validated scale for functional evaluation in patients with HFS. Results.: The mean age at onset was 49 ± 13.1 (range: 12-77) and time to diagnosis of 3 ± 1.5 years, with a predominance of females (2.08 :1). The left side was affected in 61 (54.9%) patients and the orbicularis oculi muscles were the first affected in the majority of cases (85.5%). A large part (n = 87) reported insidious onset and gradual evolution. Nervousness, stress, and anxiety are important contributors to worsening spasm, reported by more than 82% (n = 92) of HFS patients, and moments of relaxation, tranquility, rest, and leisure activities were responsible for relieving spasm in 57 interviewees. More than 90% (n = 96) reported significant improvement of spasm after BTX application, and 24.5% (n = 26) reported some adverse effects in the last application, with lip asymmetry and ocular dryness being the most frequent. On the psychiatric symptoms, 41,7% (n = 45) presented scores that suggest some degree of depression, up to 56.4% (n = 57) generalized anxiety and 34.2% (n = 38) anxiety or social phobia. Reading as a physical functional domain and shame, sadness and concern for other people\'s reactions were the major functional losses described in these patients
17

Aspectos clínicos, demográficos e neurocomportamentais em pacientes com espasmo hemifacial / Clinical, demographic and neurobehavioral aspects in patients with hemifacial spasm

João Alves Cardoso Júnior 06 September 2018 (has links)
O espasmo hemifacial (EHF) é um distúrbio de movimento caracterizado por contrações tônico ou clônicas involuntárias, unilaterais, intermitentes e irregulares dos músculos inervados pelo nervo facial ipsilateral. Apesar de considerado como um transtorno benígno, promove influência significativa na qualidade de vida dos portadores através do comprometimento funcional físico e emocional que promove, englobando, desde o prejuízo na leitura e outras funções visuais, até o constrangimento social e distúrbios psiquiátricos associados, como depressão e ansiedade. Objetivo.: Descrever as características clínicas e demográficas, assim como a frequência de sintomas psiquiátricos de ansiedade generalizada, social e depressão, e a relação destes sintomas com a qualidade de vida nesta amostra de pacientes. Métodos.: 111 pacientes portadores de EHF primário foram avaliados. Foi aplicado questionário geral para coleta de dados demográficos e clínicos associados a evolução e tratamento do distúrbio de movimento com toxina botulínica. Os sintomas psiquiátricos foram avaliados através de escalas validadas para a população brasileira. A avaliação de qualidade de vida foi através de escala específica validada para avaliação funcional nos portadores de EHF. Resultados.: A idade média de início foi de 49±13,1 (intervalo: 12 -77) e tempo de evolução até o diagnóstico de 3±1,5 anos, com predomínio no sexo feminino (2,08:1). O lado esquerdo foi afetado em 61 (54,9%) pacientes e o músculo orbicular dos olhos foi o primeiro acometido na maioria dos casos (85,5%). Grande parte (n=87) referiu início insidioso e evolução gradual. Nervosismo, estresse e ansiedade são importantes contribuintes de piora do espasmo, relatado por mais de 82% (n=92) dos portadores de EHF, e momentos de relaxamento, tranquilidade, descanso e atividades de lazer foram responsáveis por aliviar o espasmo em 57 entrevistados. Mais de 90% (n=96) perceberam melhora importante do espasmo após aplicação de TXB, e 24,5% (n=26) relataram algum efeito adverso em última aplicação, sendo assimetria labial e ressecamento ocular os mais frequentes. Sobre os sintomas psiquiátricos, 41,7% (n=45) apresentavam pontuações que sugerem algum grau de depressão, até 56,4% (n=57) ansiedade generalizada e 34,2% (n=38) ansiedade ou fobia social. A leitura como domínio funcional físico e a vergonha, a tristeza e a preocupação com reação de outras pessoas foram os maiores prejuízos funcionais descritos nesses pacientes. Conclusão.: As características clínicas e demográficas nos pacientes com EHF se assemelham a outras evidências descritas na literatura, assim como uma maior frequência de sintomas de depressão, ansiedade generalizada e fobia social nesta população. Os sintomas psiquiátricos, mais do que a gravidade do espasmo, apresentaram uma maior correlação com a qualidade de vida nesta amostra de pacientes. / Hemifacial spasm (HFS) is a movement disorder characterized by involuntary, unilateral, intermittent, tonic or clonic contractions of muscles innervated by the ipsilateral facial nerve. Although considered as a benign disorder, it promotes a significant influence on the quality of life of the patients through the physical and emotional impairment it promotes, ranging from impairment in reading and other visual functions to social embarrassment, and associated psychiatric disorders, such as depression and anxiety. Objective.: To describe the clinical and demographic characteristics, as well as the frequency of psychiatric symptoms of generalized anxiety, social anxiety and depression, and the relation of these symptoms with quality of life in this sample of patients. Methods.: 111 patients with primary HFS were evaluated. A general questionnaire was used to collect demographic and clinical data associated with the evolution and treatment of the movement disorder with botulinum toxin (BTX). The psychiatric symptoms were evaluated through scales validated for the Brazilian population. The quality of life assessment was based on a specific validated scale for functional evaluation in patients with HFS. Results.: The mean age at onset was 49 ± 13.1 (range: 12-77) and time to diagnosis of 3 ± 1.5 years, with a predominance of females (2.08 :1). The left side was affected in 61 (54.9%) patients and the orbicularis oculi muscles were the first affected in the majority of cases (85.5%). A large part (n = 87) reported insidious onset and gradual evolution. Nervousness, stress, and anxiety are important contributors to worsening spasm, reported by more than 82% (n = 92) of HFS patients, and moments of relaxation, tranquility, rest, and leisure activities were responsible for relieving spasm in 57 interviewees. More than 90% (n = 96) reported significant improvement of spasm after BTX application, and 24.5% (n = 26) reported some adverse effects in the last application, with lip asymmetry and ocular dryness being the most frequent. On the psychiatric symptoms, 41,7% (n = 45) presented scores that suggest some degree of depression, up to 56.4% (n = 57) generalized anxiety and 34.2% (n = 38) anxiety or social phobia. Reading as a physical functional domain and shame, sadness and concern for other people\'s reactions were the major functional losses described in these patients
18

Individual Response to Botulinum Toxin Therapy in Movement Disorders: A Time Series Analysis Approach

Leplow, Bernd, Pohl, Johannes, Wöllner, Julia, Weise, David 27 October 2023 (has links)
On a group level, satisfaction with botulinum neurotoxin (BoNT) treatment in neurological indications is high. However, it is well known that a relevant amount of patients may not respond as expected. The aim of this study is to evaluate the BoNT treatment outcome on an individual level using a statistical single-case analysis as an adjunct to traditional group statistics. The course of the daily perceived severity of symptoms across a BoNT cycle was analyzed in 20 cervical dystonia (CD) and 15 hemifacial spasm (HFS) patients. A parametric single-case autoregressive integrated moving average (ARIMA) time series analysis was used to detect individual responsiveness to BoNT treatment. Overall, both CD and HFS patients significantly responded to BoNT treatment with a gradual worsening of symptom intensities towards BoNT reinjection. However, only 8/20 CD patients (40%) and 5/15 HFS patients (33.3%) displayed the expected U-shaped curve of BoNT efficacy across a single treatment cycle. CD (but not HFS) patients who followed the expected outcome course had longer BoNT injection intervals, showed a better match to objective symptom assessments, and were characterized by a stronger certainty to control their somatic symptoms (i.e., internal medical locus of control). In addition to standard evaluation procedures, patients should be identified who do not follow the mean course-of-treatment effect. Thus, the ARIMA single-case time series analysis seems to be an appropriate addition to clinical treatment studies in order to detect individual courses of subjective symptom intensities.
19

Rôle de l’altération des récepteurs de NMDA dans l’épilepsie associée à la Sclérose Tubéreuse de Bourneville étudié sur un modèle animal et le tissu humain / The role of NMDA receptors alteration in the epilepsy related to Tuberos Sclerosis Complex studied on the animal model and human tissue

Gataullina, Svetlana 27 January 2015 (has links)
La sclérose tubéreuse de Bourneville (STB) est une maladie génétique et multi-systémique à transmission autosomique dominante due à des mutations d’un gène TSC1 ou TSC2 qui codent respectivement pour hamartine et tuberine ayant une action inhibitrice sur la voie de signalisation mTOR. L’épilepsie précoce et pharmacorésistante est la manifestation neurologique la plus fréquente et la plus délétère de la STB. Elle débute souvent dans la première année de vie par des spasmes infantiles qui évoluent avec l’âge et en absence de traitement vers des crises toniques ou tonico-cloniques. Bien que les crises soient supposées être générées dans des tubers corticaux, les mécanismes de l’épilepsie ne sont pas bien élucidés et le traitement reste souvent inefficace. Des études morphologiques ont montré une altération de l’expression ARNm des récepteurs au glutamate dans les cellules géantes et les neurones dysplasiques des tubers, mais leur implication fonctionnelle restait à montrer. Les différentes sous-unités NMDA ont une expression âge-dépendante et région-spécifique, les plus grands changements survenant au début de la vie quand l’épilepsie de la STB apparaît. Ce travail avait pour but d’étudier à l’aide de méthodes électrophysiologiques in vitro et in vivo l’expression fonctionnelle des sous-unités NMDA aberrantes et de déterminer leur rôle dans l’épileptogènese chez les souris hétérozygotes Tsc1+/- et sur le tissu humain STB post-opératoire. Nous avons pu démontrer que : i) Les souris hétérozygotes pour le gène Tsc1 sont spontanément épileptiques in vivo et in vitro dans une courte fenêtre dévelopmentale de P9 à P18. ii) Elles présentent une altération d’expression des récepteurs NMDA couche-spécifique et mTOR dépendante avec une surexpression des sous-unités GluN2C/D dans la couche 4 et 2/3 et GluN2B dans les couches 2/3. Cette expression anormale est prévenue par l’administration d’un inhibiteur de la voie mTOR, la rapamycine. iii) Les mêmes altérations d’expression des récepteurs NMDA, sont montrées sur les tissus post-opératoires, non seulement de tubers de STB mais aussi des dysplasies corticales focales (DCF), ces deux malformations ayant des similarités étiologiques et physiopathologiques. iv) La RT-PCR quantitative confirme une expression excessive de GluN2C dans le cortex de souris Tsc1+/- et sur le tissu humain des tubers et DCF. v) Les décharges épileptiques chez la souris Tsc1+/- sont générées dans la couche granulaire 4 du cortex avant de se propager vers les couches superficielles et les couches profondes, empruntant ainsi les microcircuits corticaux. vi) L’expression excessive de la sous-unité GluN2C dans le cortex contribue à l’hyperexcitabilité neuronale chez la souris Tsc1+/- et sur des tissus humains de tubers et de DCF puisque les crises et les décharges sont bloquées par les antagonistes sélectifs de GluN2C/D. vii) Les crises chez la souris Tsc1+/- suivent une séquence âge-dépendante évoluant du type «spasms-like» vers «tonic-clonic like», rappelant celle de l’épilepsie humaine, avec deux pics de haute incidence de crises à P13 et P16 correspondant chez l’homme respectivement l’âge des spasmes infantiles et celui des crises toniques. L’évolution avec l’âge du délai de propagation inter-hémisphérique pourrait contribuer à ce changement de types de crises. Ces résultats montrent donc pour la première fois qu’une happloinsuffisance pour le gène Tsc1 chez les souris Tsc1+/- sans tubers suffit à produire une altération de l’expression des récepteurs NMDA de manière mTOR dépendante et contribuer ainsi à l’épileptogènese dans la STB. La souris Tsc1+/- est le premier modèle génétique sans anomalies morphologiques présentant une épilepsie spontanée qui évolue des spasmes vers des crises toniques et tonico-cloniques. Néanmoins cette épilepsie diffère de l’épilepsie humaine de la STB par l’absence de crises focales et de pharmacorésistance, ce qui pourrait être expliqué par l’absence de tubers chez la souris Tsc1+/-. (...) / Tuberous sclerosis complex (TSC) is a genetic multisystemic disease with autosomal dominant transmission due to mutations in a gene TSC1 or TSC2 respectively which encode hamartin and tuberin proteins having an inhibitory action on the mTOR signaling pathway. Early refractory epilepsy is the most common and most deleterious neurological manifestation. The epilepsy often begins in the first year of life by infantile spasms that change in the lack of treatment to tonic or tonic-clonic seizures in age-dependent manner. Although seizures are thought to be generated in cortical tubers, epilepsy mechanisms are not well understood and treatment is often ineffective. Morphological studies showed the altered expression of glutamate receptor mRNA in the giant cells and dysplastic neurons of tubers, but their functional involvement remains unknown. The different NMDA subunits have an age-dependent and region-specific expression, the greatest changes occurring early in life when the TSC epilepsy appears. This work aimed to study the functional expression of aberrant NMDA subunits expression and their role in the epileptogenesis in heterozygous Tsc1+/- mice and post-surgical human tissue of TSC patients using in vitro and in vivo electrophysiological methods. The study reveal that: i) Heterozygous tuber-free Tsc1+/- mice show spontaneous epilepsy in vivo and in vitro in a short developmental window from P9 to P18. ii) These mice exhibit an altered NMDA receptor expression in mTOR dependent and layer-specific manner with GluN2C/D subunits overexpression in layers 4 and 2/3, and GluN2B ovexpression in layers 2/3. This abnormal NMDA receptors expression is prevented by the administration of an mTOR inhibitor, rapamycin. iii) The same alterations of NMDA receptors’ expression are shown in post-surgical tissues not only in tubers from TSC patients, but also in focal cortical dysplasia (FCD), these two malformations sharing etiological and pathophysiological similarities. iv) Quantitative RT-PCR confirms the excessive GluN2C subunit expression in Tsc1+/- mouse cortex and human tissue of tubers and DCF. v) Epileptic discharges in Tsc1+/- mice are generated in the granular layer 4 of the cortex before spreading to the superficial and then to deep layers, thus borrowing the cortical microcircuits. vi) Excessive expression of GluN2C subunit in the cortex contributes to neuronal hyperexcitability in Tsc1+/- mice, as well as in human tubers and DCF tissues, since epileptic discharges are blocked by selective GluN2C/D antagonists. vii) Seizures in Tsc1+/- mice follow the age-dependent sequence, evolving from "spasms-like" to "tonic-clonic like" thus reminding the human epilepsy, with two peaks of highest seizure incidence at P13 and P16 corresponding respectively to age of infantile spasms and of tonic seizures in human. The age-dependent evolution of interhemispheric propagation delay could contribute to this change in seizure type. These results show for the first time that TSC1 happloinsuffisancy in tuber-free Tsc1+/- mice is sufficient to produce an alteration in NMDA receptor expression in an mTOR dependent manner, and thus contributes to epileptogenesis in TSC. The Tsc1+/- mouse line is the first genetic model of TSC without morphological abnormalities presenting with early spontaneous seizures which evolves from “spasms-like” to “tonic-clonic like” seizures. However, the epilepsy in Tsc1+/- mice differs from human TSC epilepsy by the absence of focal seizures and of drug-resistance. Both could be explained by the lack of tubers in the Tsc1+/- mice. It remains to determine whether the expression of GluN2C subunit is also transitional in Tsc1+/- mice and whether other factors contribute to determine the age-dependent epilepsy. This study opens new therapeutic perspectives of TSC epilepsy targeting GluN2C subunit of NMDA receptors.
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Rôle de l’altération des récepteurs de NMDA dans l’épilepsie associée à la Sclérose Tubéreuse de Bourneville étudié sur un modèle animal et le tissu humain / The role of NMDA receptors alteration in the epilepsy related to Tuberos Sclerosis Complex studied on the animal model and human tissue

Gataullina, Svetlana 27 January 2015 (has links)
La sclérose tubéreuse de Bourneville (STB) est une maladie génétique et multi-systémique à transmission autosomique dominante due à des mutations d’un gène TSC1 ou TSC2 qui codent respectivement pour hamartine et tuberine ayant une action inhibitrice sur la voie de signalisation mTOR. L’épilepsie précoce et pharmacorésistante est la manifestation neurologique la plus fréquente et la plus délétère de la STB. Elle débute souvent dans la première année de vie par des spasmes infantiles qui évoluent avec l’âge et en absence de traitement vers des crises toniques ou tonico-cloniques. Bien que les crises soient supposées être générées dans des tubers corticaux, les mécanismes de l’épilepsie ne sont pas bien élucidés et le traitement reste souvent inefficace. Des études morphologiques ont montré une altération de l’expression ARNm des récepteurs au glutamate dans les cellules géantes et les neurones dysplasiques des tubers, mais leur implication fonctionnelle restait à montrer. Les différentes sous-unités NMDA ont une expression âge-dépendante et région-spécifique, les plus grands changements survenant au début de la vie quand l’épilepsie de la STB apparaît. Ce travail avait pour but d’étudier à l’aide de méthodes électrophysiologiques in vitro et in vivo l’expression fonctionnelle des sous-unités NMDA aberrantes et de déterminer leur rôle dans l’épileptogènese chez les souris hétérozygotes Tsc1+/- et sur le tissu humain STB post-opératoire. Nous avons pu démontrer que : i) Les souris hétérozygotes pour le gène Tsc1 sont spontanément épileptiques in vivo et in vitro dans une courte fenêtre dévelopmentale de P9 à P18. ii) Elles présentent une altération d’expression des récepteurs NMDA couche-spécifique et mTOR dépendante avec une surexpression des sous-unités GluN2C/D dans la couche 4 et 2/3 et GluN2B dans les couches 2/3. Cette expression anormale est prévenue par l’administration d’un inhibiteur de la voie mTOR, la rapamycine. iii) Les mêmes altérations d’expression des récepteurs NMDA, sont montrées sur les tissus post-opératoires, non seulement de tubers de STB mais aussi des dysplasies corticales focales (DCF), ces deux malformations ayant des similarités étiologiques et physiopathologiques. iv) La RT-PCR quantitative confirme une expression excessive de GluN2C dans le cortex de souris Tsc1+/- et sur le tissu humain des tubers et DCF. v) Les décharges épileptiques chez la souris Tsc1+/- sont générées dans la couche granulaire 4 du cortex avant de se propager vers les couches superficielles et les couches profondes, empruntant ainsi les microcircuits corticaux. vi) L’expression excessive de la sous-unité GluN2C dans le cortex contribue à l’hyperexcitabilité neuronale chez la souris Tsc1+/- et sur des tissus humains de tubers et de DCF puisque les crises et les décharges sont bloquées par les antagonistes sélectifs de GluN2C/D. vii) Les crises chez la souris Tsc1+/- suivent une séquence âge-dépendante évoluant du type «spasms-like» vers «tonic-clonic like», rappelant celle de l’épilepsie humaine, avec deux pics de haute incidence de crises à P13 et P16 correspondant chez l’homme respectivement l’âge des spasmes infantiles et celui des crises toniques. L’évolution avec l’âge du délai de propagation inter-hémisphérique pourrait contribuer à ce changement de types de crises. Ces résultats montrent donc pour la première fois qu’une happloinsuffisance pour le gène Tsc1 chez les souris Tsc1+/- sans tubers suffit à produire une altération de l’expression des récepteurs NMDA de manière mTOR dépendante et contribuer ainsi à l’épileptogènese dans la STB. La souris Tsc1+/- est le premier modèle génétique sans anomalies morphologiques présentant une épilepsie spontanée qui évolue des spasmes vers des crises toniques et tonico-cloniques. Néanmoins cette épilepsie diffère de l’épilepsie humaine de la STB par l’absence de crises focales et de pharmacorésistance, ce qui pourrait être expliqué par l’absence de tubers chez la souris Tsc1+/-. (...) / Tuberous sclerosis complex (TSC) is a genetic multisystemic disease with autosomal dominant transmission due to mutations in a gene TSC1 or TSC2 respectively which encode hamartin and tuberin proteins having an inhibitory action on the mTOR signaling pathway. Early refractory epilepsy is the most common and most deleterious neurological manifestation. The epilepsy often begins in the first year of life by infantile spasms that change in the lack of treatment to tonic or tonic-clonic seizures in age-dependent manner. Although seizures are thought to be generated in cortical tubers, epilepsy mechanisms are not well understood and treatment is often ineffective. Morphological studies showed the altered expression of glutamate receptor mRNA in the giant cells and dysplastic neurons of tubers, but their functional involvement remains unknown. The different NMDA subunits have an age-dependent and region-specific expression, the greatest changes occurring early in life when the TSC epilepsy appears. This work aimed to study the functional expression of aberrant NMDA subunits expression and their role in the epileptogenesis in heterozygous Tsc1+/- mice and post-surgical human tissue of TSC patients using in vitro and in vivo electrophysiological methods. The study reveal that: i) Heterozygous tuber-free Tsc1+/- mice show spontaneous epilepsy in vivo and in vitro in a short developmental window from P9 to P18. ii) These mice exhibit an altered NMDA receptor expression in mTOR dependent and layer-specific manner with GluN2C/D subunits overexpression in layers 4 and 2/3, and GluN2B ovexpression in layers 2/3. This abnormal NMDA receptors expression is prevented by the administration of an mTOR inhibitor, rapamycin. iii) The same alterations of NMDA receptors’ expression are shown in post-surgical tissues not only in tubers from TSC patients, but also in focal cortical dysplasia (FCD), these two malformations sharing etiological and pathophysiological similarities. iv) Quantitative RT-PCR confirms the excessive GluN2C subunit expression in Tsc1+/- mouse cortex and human tissue of tubers and DCF. v) Epileptic discharges in Tsc1+/- mice are generated in the granular layer 4 of the cortex before spreading to the superficial and then to deep layers, thus borrowing the cortical microcircuits. vi) Excessive expression of GluN2C subunit in the cortex contributes to neuronal hyperexcitability in Tsc1+/- mice, as well as in human tubers and DCF tissues, since epileptic discharges are blocked by selective GluN2C/D antagonists. vii) Seizures in Tsc1+/- mice follow the age-dependent sequence, evolving from "spasms-like" to "tonic-clonic like" thus reminding the human epilepsy, with two peaks of highest seizure incidence at P13 and P16 corresponding respectively to age of infantile spasms and of tonic seizures in human. The age-dependent evolution of interhemispheric propagation delay could contribute to this change in seizure type. These results show for the first time that TSC1 happloinsuffisancy in tuber-free Tsc1+/- mice is sufficient to produce an alteration in NMDA receptor expression in an mTOR dependent manner, and thus contributes to epileptogenesis in TSC. The Tsc1+/- mouse line is the first genetic model of TSC without morphological abnormalities presenting with early spontaneous seizures which evolves from “spasms-like” to “tonic-clonic like” seizures. However, the epilepsy in Tsc1+/- mice differs from human TSC epilepsy by the absence of focal seizures and of drug-resistance. Both could be explained by the lack of tubers in the Tsc1+/- mice. It remains to determine whether the expression of GluN2C subunit is also transitional in Tsc1+/- mice and whether other factors contribute to determine the age-dependent epilepsy. This study opens new therapeutic perspectives of TSC epilepsy targeting GluN2C subunit of NMDA receptors.

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