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54. A multicenter evaluation of external outflow graft obstruction with a fully magnetically levitated left ventricular assist device

Author

Wert, Leonhard, primary, Stewart, Garrick C., additional, Mehra, Mandeep R., additional, Milwidsky, Assi, additional, Jorde, Ulrich P., additional, Goldstein, Daniel J., additional, Selzman, Craig H., additional, Stehlik, Josef, additional, Alshamdin, Faisal D., additional, Khaliel, Feras H., additional, Gustafsson, Finn, additional, Boschi, Silvia, additional, Loforte, Antonio, additional, Ajello, Silvia, additional, Scandroglio, Anna M., additional, Tučanová, Zuzana, additional, Netuka, Ivan, additional, Schlöglhofer, Thomas, additional, Zimpfer, Daniel, additional, Zijderhand, Casper F., additional, Caliskan, Kadir, additional, Dogan, Günes, additional, Schmitto, Jan D., additional, Maier, Sven, additional, Schibilsky, David, additional, Jawad, Khalil, additional, Saeed, Diyar, additional, Faerber, Gloria, additional, Morshuis, Michiel, additional, Hanuna, Maja, additional, Müller, Christoph S., additional, Mulzer, Johanna, additional, Kempfert, Jörg, additional, Falk, Volkmar, additional, and Potapov, Evgenij V., additional

Published
2022
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56. Dispositivos de ortostatismo para personas con movilidad reducida: revisión integrativa

Author

Alves, Nazareti Pereira Ferreira, Cecílio, Mariana de Moraes, Moreira, Lucyana de Miranda, Martini, Silva Cristina, Silva, Alessandro Pereira da, Scardovelli, Terigi Augusto, Silva, Sérgio Gomes da, Lira Neto, José Claudio Garcia, and Boschi, Silvia Regina Matos da Silva

Subjects
Treatment, Tratamento, Assistive technology, Posición Ortostática, Standing Position, Tecnología de asistencia, Revisión, Tratamiento, Tecnologia assistiva, Posição Ortostática, Revisão, Revision
Abstract

To identify the application of devices for orthostatism for people with reduced mobility. This is an integrative review, carried out in August 2021, using the following terms immobility, reduced mobility, orthostatism device, assistive technology, and rehabilitation, conducted in the MEDLINE databases (via PubMed), Embase, SciELO, LILACS, SCOPUS, PEDro and ERIC. Six articles were identified that answered the guiding question. The activities carried out on the tilt table contribute to a safe and effective practice of early mobilization in people with reduced mobility and, if performed according to protocols and exercises, favor the reduction of deconditioning and loss of muscle mass caused by bed rest. Despite the effectiveness of early mobilization, there are still numerous barriers to its implementation. Developing and maintaining a culture of multiprofessionals that promote, value, and prioritize early mobilization is essential to translate evidence into clinical practice. Identificar la aplicación de dispositivos para ortostatismo para personas con movilidad reducida. Esta es una revisión integradora, realizada en agosto de 2021, utilizando los siguientes términos inmovilidad, movilidad reducida, dispositivo de ortostatismo, tecnología de asistencia y rehabilitación, realizada en las bases de datos MEDLINE (vía PubMed), Embase, SciELO, LILACS, SCOPUS, PEDro y ERIC. Se identificaron seis artículos que respondieron a la pregunta orientadora. Las actividades realizadas en la mesa basculante contribuyen a una práctica segura y eficaz de la movilización precoz en personas con movilidad reducida y, si se realizan según protocolos y ejercicios, favorecen la reducción del descondicionamiento y pérdida de masa muscular provocados por el reposo en cama. A pesar de la efectividad de la movilización temprana, todavía existen numerosas barreras para su ejecución. Desarrollar y mantener una cultura de multiprofesionales que promuevan, valoren y prioricen la movilización temprana es fundamental para traducir la evidencia a la práctica clínica. Identificar a aplicação de dispositivos para ortostatismo para pessoas com mobilidade reduzida. Trata-se de uma revisão integrativa, realizada em agosto de 2021, com a utilização dos seguintes termos imobilismo, mobilidade reduzida, dispositivo para ortostatismo, tecnologia assistiva e reabilitação, conduzida nas bases de dados MEDLINE (via PubMed), Embase, SciELO, LILACS, SCOPUS, PEDro e ERIC. Foram identificados seis artigos que responderam à pergunta norteadora. As atividades desenvolvidas na mesa de inclinação contribuem para uma prática segura e efetiva de mobilização precoce em pessoas com mobilidade reduzida e se executadas conforme os protocolos e exercícios favorecem a diminuição do descondicionamento e a perda de massa muscular causados pelo repouso no leito. Apesar da efetividade da mobilização precoce, ainda existem inúmeras barreiras para sua execução. Deve-se desenvolver e manter uma cultura de multiprofissionais que promovam, valorizem e priorizem a mobilização precoce é essencial para traduzir as evidências na prática clínica.

Published
2022

57. Método no invasivo versus método invasivo para medir la presión arterial en roedores: una revisión bibliográfica integradora

Author

Valério, Mariana da Palma, Martini, Silvia Cristina, Boschi, Silvia Regina Matos da Silva, Scardovelli, Terigi Augusto, and Silva, Alessandro Pereira da

Subjects
Métodos no invasivos, Roedores, Métodos invasivos, Invasive methods, Medición de la presión arterial, Blood pressure measurement, Medição de pressão arterial, Rodents, Métodos não invasivos, Non-Invasive methods
Abstract

Blood pressure (BP) measurement is the main monitoring parameter related to the cardiac system, and the use of animals is vital for understanding the physiological mechanism and studying pathologies related to this system. The most recommended measurement procedures in rodents in the literature are: The non-invasive method (tail cuff) and the invasive methods (catheter with fluid and telemetry). The objective of this study was to verify the main arterial measurement techniques in rodents, evaluate their positive and negative points and classify which is the most viable and effective technique for initial experimental tests. An integrative literature review was carried out using the descriptors and their respective synonyms, “real time device”, “blood pressure measurements”, “rats” using the Boolean “AND” in PubMed, Scielo and Medline databases. As inclusion criteria, articles that addressed the aforementioned theme, in Portuguese, English or Spanish, complete, from experimental trials on rodents, published within the last 21 years were adopted. As exclusion criteria were articles that were not available for full reading and studies that did not use rodents as a sample. Thirteen articles were selected that met the criteria. The results demonstrate that invasive methods can be advantageous for continuous measurements, but that it would be preferable to use the non-invasive method as it is safer and easier to perform. It is concluded that for initial experimental trials, the procedure to be chosen would be the non-invasive method, tail cuff. La medición de la presión arterial (PA) es el principal parámetro de monitorización relacionado con el sistema cardíaco, y el uso de animales es vital para comprender el mecanismo fisiológico y estudiar las patologías relacionadas con este sistema. Los procedimientos de calibración en roedores más recomendados por la literatura son: El método no invasivo (manguito de cola) y los métodos invasivos (catéter de fluidos y telemetría). El objetivo de este estudio fue verificar las principales técnicas de medición arterial en roedores, evaluar sus puntos positivos y negativos y clasificar qué técnica es la más viable y eficaz para los ensayos experimentales iniciales. Se llevó a cabo una revisión bibliográfica integradora utilizando los descriptores y sus respectivos sinónimos, “real time device”, “blood pressure measurements”, “rats” utilizando el booleano "AND" en las bases de datos PubMed, Scielo y Medline. Los criterios de inclusión fueron artículos que abordaran el tema mencionado, en portugués, inglés o español, completos, de ensayos experimentales en roedores, publicados en los últimos 21 años. Los criterios de exclusión fueron los artículos que no estaban disponibles para la lectura del texto completo y los estudios que no utilizaban roedores como muestra. Se seleccionaron trece artículos que cumplían los criterios. Los resultados muestran que los métodos invasivos pueden ser ventajosos para las mediciones continuas, pero que sería preferible utilizar el método no invasivo porque es más seguro y fácil de realizar. Se concluye que para los primeros ensayos experimentales, el procedimiento a elegir sería el método no invasivo, el manguito de cola. A aferição da pressão arterial (PA) é o principal parâmetro de monitoramento relacionado ao sistema cardíaco, e o uso de animais é vital para a compreensão do mecanismo fisiológico e estudo de patologias relacionadas a esse sistema. Os procedimentos de aferição em roedores mais recomendados pela literatura são: O método não invasivo (punho de cauda) e os métodos invasivos (cateter com fluido e telemetria). O objetivo deste estudo foi verificar as principais técnicas de medição arterial em roedores, avaliar seus pontos positivos, negativos e classificar qual a técnica mais viável e eficaz para ensaios experimentais iniciais. Foi realizado uma revisão integrativa da literatura utilizando os descritores e seus respectivos sinônimos, “real time device”, “blood pressure measurements”, “rats” fazendo o uso do booleano “AND” nas bases de dados PubMed, Scielo e Medline. Como critérios de inclusão foram adotados artigos que abordassem a temática supracitada, em português, inglês ou espanhol, completos, de ensaios experimentais em roedores, publicados com no máximo nos últimos 21 anos. Os critérios de exclusão foram artigos não disponíveis para leitura na integra e estudos que não utilizassem roedores como amostra. Foram selecionados 13 artigos que atendiam aos critérios. Os resultados demonstram que os métodos invasivos podem ser vantajosos para medições contínuas, mas que preferencialmente seria recomendado utilizar o método não invasivo por ser mais seguro e de fácil execução. Conclui-se que para ensaios experimentais iniciais, o procedimento a ser escolhido seria o método não invasivo, punho de cauda.

Published
2022

58. Dispositivos para ortostatismo para pessoas com mobilidade reduzida: revisão integrativa

Author

Alves, Nazareti Pereira Ferreira, primary, Cecílio, Mariana de Moraes, additional, Moreira, Lucyana de Miranda, additional, Martini, Silva Cristina, additional, Silva, Alessandro Pereira da, additional, Scardovelli, Terigi Augusto, additional, Silva, Sérgio Gomes da, additional, Lira Neto, José Claudio Garcia, additional, and Boschi, Silvia Regina Matos da Silva, additional

Published
2022
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60. Dispositivo de barras paralelas con estímulo vibratorio controlado vía Interfaz Hombre Máquina (IHM) para rehabilitación de neuropatologías

Author

Morais, Antonio Vinícius de, Boschi, Silvia Regina Matos da Silva, Moura, Luan de Almeida, Moniz, Yasmim Fernandes, Martini, Silvia Cristina, Scardovelli, Terigi Augusto, and Silva, Alessandro Pereira da

Subjects
Neuropatologias, Vibrating Platform, Rehabilitación de la marcha y el equilibrio, Neuropathologies, Plataforma Vibratoria, Vibraciones de Cuerpo Completo, Vibrações de Corpo Inteiro, Whole Body Vibrations, Reabilitação de Marcha e Equilíbrio, Plataforma Vibratória, Gait and Balance Rehabilitation, Neuropatologías, Retrofit
Abstract

Neurological rehabilitation is essential for maintaining and increasing the motor function of patients affected by neuropathologies. Some impairments are commonly related to loss of muscle strength, balance and walking ability. Recently, the use of mechanical vibrations associated with conventional treatment to enhance gains in motor rehabilitation has emerged. It is suggested that vibrations increase the motoneurons excitability, contributing to the gait performance, balance and proprioception, in addition to decreasing spasticity. This study aims to implement a retrofit of a parallel bar device with vibratory stimulus and to validate the new system. This improvement targeted at increasing robustness, better mass distribution and an HMI development. To validate the system, engineering tests were performed that included the frequency measurement, vibration intensity, oscillation amplitude and sound emission, besides the system usability measurement by health professionals with the SUS scale. The engineering tests revealed that the improved device allows several protocols execution, since the control variables remain stable regardless of the load application point and that the sound noise is in accordance with Brazilian safety regulations. The device was evaluated by health professionals as “Best Imaginable” on the SUS scale. Through the retrofit performed, the device became more efficient and safer, optimizing this tool for clinical practice. La rehabilitación neurológica es fundamental para mantener y aumentar la función motora de los pacientes afectados por neuropatologías. Algunas deficiencias suelen estar relacionadas con la disminución de la fuerza muscular, la pérdida del equilibrio y la capacidad para caminar. En los últimos años, ha surgido el uso de vibraciones mecánicas asociadas con el tratamiento convencional para mejorar los avances en la rehabilitación motora. Se sugiere que las vibraciones aumentan la excitabilidad de las motoneuronas, contribuyendo al desempeño de la marcha, el equilibrio y la propiocepción, además de disminuir la espasticidad. Los objetivos de este estudio fueron implementar un retrofit de un dispositivo de barras paralelas con estímulo vibratorio y validar el nuevo sistema. Esta mejora tuvo como objetivo aumentar la robustez, la distribución masiva y el desarrollo de una HMI. Para validar el sistema, se realizaron ensayos de ingeniería, que incluyeron la medición de frecuencia de vibración, intensidad de vibración, amplitud de oscilación y emisión de sonido, además de medir la usabilidad del sistema por parte de los profesionales de la salud con la escala SUS. Los ensayos de ingeniería revelaron que el dispositivo mejorado permite la ejecución de varios protocolos, ya que las variables de control permanecen estables independientemente del punto de aplicación de la carga y que el ruido sonoro está de acuerdo con las normas de seguridad brasileñas. El dispositivo fue evaluado por profesionales de la salud como el “Mejor Imaginable” en la escala SUS. Mediante el retrofit realizado, el dispositivo se volvió más eficiente y seguro, optimizando esta herramienta para la práctica clínica. A reabilitação neurológica é fundamental para manutenção e aumento da função motora de pacientes acometidos por neuropatologias. Alguns comprometimentos estão comumente relacionados à diminuição da força muscular, perda de equilíbrio e capacidade de deambulação. Nos últimos anos vem emergindo a utilização de vibrações mecânicas associadas ao tratamento convencional para potencializar os ganhos na reabilitação motora. Sugere-se que as vibrações aumentam a excitabilidade dos motoneurônios, contribuindo na execução da marcha, equilíbrio e propriocepção, além de diminuir a espasticidade. Os objetivos deste estudo foram implementar um retrofit de um dispositivo de barras paralelas com estímulo vibratório e validar o novo sistema. Esse aprimoramento visou o aumento da robustez, melhor distribuição de massa e o desenvolvimento de uma IHM. Para validação do sistema, foram realizados testes de engenharia que contemplaram a mensuração da frequência vibratória, intensidade de vibração, amplitude de oscilação e emissão sonora, além da mensuração da usabilidade do sistema por profissionais da saúde com a escala SUS. Os testes de engenharia revelaram que o dispositivo aprimorado propicia a execução de diversos protocolos, visto que as variáveis de controle se mantêm estáveis independente do ponto de aplicação de carga e que o ruído sonoro condiz com as normativas de segurança brasileira. O dispositivo foi avaliado pelos profissionais da saúde como o “Melhor Imaginável” na escala SUS. Por meio do retrofit realizado, o dispositivo tornou-se mais eficiente e seguro, otimizando essa ferramenta para prática clínica.

Published
2022

61. Dispositivos musicales en la rehabilitación neurológica del miembro superior: una revisión integrativa

Author

Moniz, Yasmim Fernandes, Silva, Alessandro Pereira da, Gunji, Bruno Toshio Gomes, Scardovelli, Terigi Augusto, Martini, Silvia Cristina, and Boschi, Silvia Regina Matos da Silva

Subjects
Music, Upper extremity, Rehabilitación, Rehabitation, Extremidad superior, Música, Reabilitação, Device, Extremidade superior, Dispositivo
Abstract

Introduction: Neurologic rehabilitation of upper limb is a challenge process require patient high adherence to therapeutic protocol for effective results. One of the strategies to promote the neuroplasticity and the patient motivation is the use of music in rehabilitation. The progress in the field motivate the development of music devices/games that aim rehabilitation be ludic, functional and less tiring. Objetives: To synthesize and analyze through an integrative review the benefits, usability, limitations and possible improvements of devices for neurological recovery. Methods: Research articles use the data bases dados PubMed, Scielo, PeDro and Cochrane Library. Used the follow keywords: “Music Intervention”, “Rehabilitation”, “Music Device”, “Neurologic Disease”, “Upper Limb”, along with the booleans “and” and “or”, seek in tittle and abstract of the articles. Was admitted articles with no more that 10 years of publication and we did not exclude any language. Results: Was found 5 articles the satisfied the inclusion criteria. The devices were developed to attend patients with Stroke and Parkinson Disease. The main benefits were increased repetition of tasks, improvement in rhythmic skills, increased coherence cortico-muscular, increase of voluntary motivation and improvement smoothness of movements. Conclusion: The use of music devices in neurologic rehabilitation of upper limb proves beneficial, viable and without apparent risks. Although, there are a scarce number of articles, principally randomized clinical trials, beyond samples not so representative, it´s necessary more studies to validate the use of this devices. Introducción: La rehabilitación neurológica de miembros superiores es un proceso desafiante que requiere un alto cumplimiento por parte del paciente para obtener resultados efectivos. Una de las estrategias para promover la neuroplasticidad y la motivación del paciente es el uso de la música en la rehabilitación. Los avances en este ámbito han motivado la creación de dispositivos/juegos musicales destinados a la rehabilitación de forma lúdica, funcional y menos agotadora. Objetivos: Sintetizar y analizar mediante una revisión integradora los beneficios, usabilidad, limitaciones y posibles mejoras de los dispositivos musicales aplicados a la rehabilitación neurológica. Metodología: La búsqueda de artículos se realizó en las bases de datos PubMed, Scielo, PeDro y Cochrane Library. Se utilizaron los siguientes descriptores: “Intervención musical”, “Rehabilitación”, “Dispositivo musical”, “Enfermedad neurológica”, “Extremidad superior”, asociados a los booleanos “y” y “o”, con los descriptores indicados en el título o resumen del artículo. Se admitieron artículos publicados en los últimos 10 años y sin restricción de idioma. Resultados: Se encontraron 5 artículos que cumplieron con los criterios de inclusión. Los dispositivos fueron desarrollados para pacientes con accidente cerebrovascular y enfermedad de Parkinson. Los principales beneficios fueron: aumento de la repetición de tareas, mejora de las habilidades rítmicas, aumento de la coherencia de la fase de tensión muscular, aumento de la motivación de los voluntarios y mejora de la suavidad de los movimientos. Conclusión: El uso de aparatos musicales en la rehabilitación neurológica del miembro superior se mostró beneficioso, factible y sin riesgos aparentes. Todavía existe un número escaso de artículos, principalmente ensayos clínicos aleatorizados, además de muestras no tan representativas, se necesitan más estudios para validar el utilizacíon de estos dispositivos. Introdução: A reabilitação neurológica do membro superior é um processo desafiador que exige alta adesão do paciente para resultados efetivos. Uma das estratégias para promover a neuroplastidade e a motivação dos pacientes é a utilização de música na reabilitação. Os progressos nesta área motivaram a criação de dispositivos/jogos musicais que visam a reabilitação de forma lúdica, funcional e menos fatigante. Objetivos: Sintetizar e analisar por meio de uma revisão integrativa os benefícios, usabilidade, limitações e possíveis aprimoramentos dos dispositivos musicais aplicados a reabilitação neurológica. Metodologia: A busca dos artigos foi realizada nas bases de dados PubMed, Scielo, PeDro e Cochrane Library. Utilizou-se os seguintes descritores: “Music Intervention”, “Rehabilitation”, “Music Device”, “Neurologic Disease”, “Upper Limb”, associados aos boleanos “and” e “or” sendo os descritores indicados no título ou no resumo do artigo. Foram admitidos artigos publicados nos últimos 10 anos e sem restrição de idioma. Resultados: Foram encontrados 5 artigos que satisfaziam os critérios de inclusão. Os dispositivos foram desenvolvidos para pacientes com Acidente Vascular Encefálico e Doença de Parkinson. Os principais benefícios foram: aumento da repetição das tarefas, melhora nas habilidades rítmicas, aumento coerência da fase cortiço muscular, aumento da motivação do voluntário e melhora na suavidade dos movimentos. Conclusão: A utilização de dispositivos musicais na reabilitação neurológica do membro superior se mostrou benéfica, viável e sem riscos aparentes. Ainda há um número escasso de artigos, principalmente ensaios clínicos randomizados, além de amostras não tão representativas, são necessários mais estudos para validar a utilização destes dispositivos.

Published
2022

62. Uso de imágenes infrarrojas en tendinopatía calcánea traumática

Author

Silva, Juliana Nobre da, Lopes-Martins, Rodrigo Álvaro Brandão, Martini, Silvia Cristina, Boschi, Silvia Regina Matos da Silva, Silva, Alessandro Pereira da, and Scardovelli, Terigi Augusto

Subjects
Diagnostic Imaging, Tendinopatía, Termografía, Thermography, Tendinopathy, Tendão do Calcâneo, Diagnóstico por Imagen, Achilles tendon, Diagnóstico por imagem, Tendón Calcáneo, Termografia
Abstract

Achilles tendon tendinopathy is a disease that affects about 10% of the world population. Ultrasonography and magnetic resonance images can be used as diagnostic tools, however, both ultrasound and magnetic resonance imaging have a high incidence of false-positive. Thus, the evaluation of the thermal profile of traumatically injured Achilles tendons can be an ally in the diagnosis of calcaneal tendinopathy, aiding to differentiate between this and other joint pathologies. Therefore, the aim of this study was to evaluate the temperature change in the calcaneal tendons of rats after traumatic injury and to verify a thermal pattern of the injured limb. For that, 5 Wistar rats were used, whose calcaneal tendons of the right paws were injured, and the contralateral paws were used as controls. Through infrared images, the thermal profile of both tendons of the rats was analyzed, before and after the injury. In both paws, there was a tendency of temperature decrease in both healthy and injured paws, and the coefficient of determination was higher than 94% between temperature and time interval. Injured paws showed slightly higher temperature than uninjured paws from the second hour after injury. The established thermal profile can be compared with thermograms of other joint pathologies and thus distinguish the diagnosis between them. The study findings corroborate previous findings, which demonstrate that thermography can be useful in the diagnosis of calcaneal tendinopathy. La tendinopatía del tendón de Aquiles es una enfermedad que afecta a alrededor del 10% de la población mundial. La ecografía y la resonancia magnética pueden utilizarse como herramientas para ayudar al diagnóstico; sin embargo, tanto la ecografía como la resonancia magnética tienen una alta incidencia de resultados falsos positivos. Así, la valoración del perfil térmico de los tendones del calcáneo lesionados traumáticamente puede ser un aliado en el diagnóstico de la tendinopatía del calcáneo, ayudando a diferenciar esta de otras patologías articulares. Por lo tanto, el objetivo de este estudio fue evaluar el cambio de temperatura en los tendones del calcáneo de ratas después de una lesión traumática y verificar un patrón térmico de la extremidad lesionada. Para ello se utilizaron 5 ratas Wistar, cuyos tendones del calcáneo de las patas derechas estaban lesionados y se utilizaron como controles las patas contralaterales. A través de imágenes infrarrojas se analizó el perfil térmico de ambos tendones de las ratas, antes y después de la lesión. En ambas patas, hubo una tendencia de disminución de la temperatura tanto en la pata sana como en la pata lesionada y el coeficiente de determinación fue superior al 94% entre la temperatura y el intervalo de tiempo. Las patas lesionadas mostraron una temperatura ligeramente más alta que las patas sanas a partir de la segunda hora después de la lesión. El perfil térmico establecido puede compararse con termogramas de otras patologías articulares y así distinguir el diagnóstico entre ellas. Los hallazgos de este estudio corroboran hallazgos previos, que demuestran que la termografía puede ser útil en el diagnóstico de la tendinopatía del calcáneo. A tendinopatia de tendão calcâneo é uma doença que acomete cerca de 10% da população mundial. Imagens de ultrassonografia e ressonância magnética podem ser utilizadas como ferramentas de auxílio ao diagnóstico, contudo, tanto a ultrassonografia, como a ressonância magnética, apresentam alta incidência de achados falso-positivos. Dessa forma, a avaliação do perfil térmico de tendões calcâneos traumaticamente lesionados, pode ser uma aliada ao diagnóstico de tendinopatia calcânea, auxiliando na diferenciação entre esta e outras patologias articulares. Sendo assim, o objetivo deste estudo foi avaliar a alteração de temperatura em tendões calcâneos de ratos após lesão traumática e verificar um padrão térmico do membro lesionado. Para tanto foram utilizados cinco ratos Wistar, cujos tendões calcâneos das patas direitas foram lesionados e as patas contralaterais foram utilizadas como controles. Através de imagens infravermelhas o perfil térmico de ambos os tendões dos ratos foi analisado, antes e após a lesão. Em ambas as patas, houve uma tendência de diminuição de temperatura tanto na pata sadia, quanto na pata lesionada e o coeficiente de determinação foi superior a 94% entre a temperatura e o intervalo de tempo. As patas lesionadas apresentaram temperatura discretamente mais elevada do que as patas não lesionadas a partir da segunda hora após a lesão. O perfil térmico estabelecido pode ser comparado com termogramas de outras patologias articulares e assim distinguir o diagnóstico entre elas. Os achados deste estudo corroboraram com achados anteriores, que demonstram que a termografia pode ser útil no diagnóstico de tendinopatia calcânea.

Published
2022

63. Gastroplastia no Brasil: um retrato da evolução do estado nutricional

Author

Santiago, Tatiana, primary, Silva, Alessandro Pereira da, additional, Szego, Tiago, additional, Antonacci Junior, Edson, additional, Bassols, Guilherme Fagundes, additional, Silva, Thaizy Geralda da, additional, Boschi, Silvia Regina Matos da Silva, additional, Martini, Silvia Cristina, additional, and Scardovelli, Terigi Augusto, additional

Published
2022
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70. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

Author

Diaz-Manera, Jordi, primary, Kishnani, Priya S, additional, Kushlaf, Hani, additional, Ladha, Shafeeq, additional, Mozaffar, Tahseen, additional, Straub, Volker, additional, Toscano, Antonio, additional, van der Ploeg, Ans T, additional, Berger, Kenneth I, additional, Clemens, Paula R, additional, Chien, Yin-Hsiu, additional, Day, John W, additional, Illarioshkin, Sergey, additional, Roberts, Mark, additional, Attarian, Shahram, additional, Borges, Joao Lindolfo, additional, Bouhour, Francoise, additional, Choi, Young Chul, additional, Erdem-Ozdamar, Sevim, additional, Goker-Alpan, Ozlem, additional, Kostera-Pruszczyk, Anna, additional, Haack, Kristina An, additional, Hug, Christopher, additional, Huynh-Ba, Olivier, additional, Johnson, Judith, additional, Thibault, Nathan, additional, Zhou, Tianyue, additional, Dimachkie, Mazen M, additional, Schoser, Benedikt, additional, Behin, Anthony, additional, Boentert, Matthias, additional, Carvalho, Gerson, additional, Chahin, Nizar, additional, Charrow, Joel, additional, Deegan, Patrick, additional, Durmus Tekce, Hacer, additional, Duval, Fanny, additional, Genge, Angela, additional, Gutmann, Ludwig, additional, Henderson, Robert D, additional, Hennermann, Julia B, additional, Hiwot, Tarekegn, additional, Hughes, Derralynn, additional, Karaa, Amel, additional, Karam, Chafic, additional, Kautzky-Willer, Alexandra, additional, Komaki, Hirofumi, additional, Laforet, Pascal, additional, Longo, Nicola, additional, Malinova, Vera, additional, Maré, Ricardo, additional, Maxit, Clarisa, additional, Mengel, Eugen, additional, Moggio, Maurizio Gualtiero, additional, Molnár, Mária Judit, additional, Mongini, Tiziana Enrica, additional, Nadaj-Pakleza, Aleksandra, additional, Nascimento Osorio, Andres, additional, Noury, Jean-Baptiste, additional, Oliveira, Acary Souza Bulle, additional, Parman, Yesim, additional, Pena, Loren, additional, Remiche, Gauthier, additional, Sciacco, Monica, additional, Shieh, Perry B, additional, Smith, Cheryl, additional, Stulnig, Thomas, additional, Taithe, Frederic, additional, Tard, Céline, additional, Tarnopolsky, Mark, additional, Vorgerd, Matthias, additional, Whitley, Chester, additional, Young, Peter, additional, Alonso-Pérez, Jorge, additional, Altemus, Patricia, additional, Aubé-Nathier, Anne-Catherine, additional, Avelar, Jennifer B, additional, Bailey, Carrie, additional, Bekircan-Kurt, Can Ebru, additional, Billy, Jenny, additional, Boschi, Silvia, additional, Brown, Kathryn E, additional, Carrera Garcia, Laura, additional, Chase, Lauren, additional, Cirne, Hamilton, additional, Danjoux, Loïc, additional, Davion, Jean-Baptiste, additional, DeArmey, Stephanie, additional, Fedotova, Ekaterina, additional, Gandolfo, Eve, additional, Grosz, Zoltan, additional, Guellec, Dewi, additional, Guettsches, Anne-Katrin, additional, Guglieri, Michela, additional, Hatcher, Erin, additional, Helms, Sina, additional, Hufgard-Leitner, Miriam, additional, Klyushnikov, Sergey A., additional, Langton, Jacqui, additional, Linková, Lenka, additional, Mavroudakis, Nicolas, additional, Mazurová, Stella, additional, Mori, Madoka, additional, Müller-Miny, Louisa, additional, Musumeci, Olimpia, additional, Nance, Christopher S, additional, Natera-de Benito, Daniel, additional, Neel, Robert, additional, Niizawa, Gabriela A, additional, Noll, Lauren, additional, Ortega, Erik, additional, Pasnoor, Mamatha, additional, Pautot, Vivien, additional, Potulska-Chromik, Anna, additional, Pugliese, Alessia, additional, Questienne, Claire, additional, Ramos Lopes, Margarida, additional, Reyes-Leiva, David, additional, Riedl, Michaela, additional, Rugiero, Marcelo Francisco, additional, Salort-Campana, Emmanuelle, additional, Sgobbi Souza, Paulo Victor, additional, Sole, Guilhem, additional, Solera, Luca, additional, Souto Lopes, Suzara, additional, Specht, Sabine, additional, Statland, Jeffrey, additional, Swenson, Andrea, additional, Tan, Chong Yew, additional, Tizon, Sónia, additional, van der Beek, N A M E, additional, van Kooten, Harmke A., additional, Wencel, Marie, additional, Wenninger, Stephan, additional, and Zagnoli, Fabien, additional

Published
2021
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71. Polymorphisms of the Proinflammatory Cytokine Genes Modulate the Response to NSAIDs but Not to Triptans in Migraine Attacks.

Author

Rubino, Elisa, Marcinnò, Andrea, Grassini, Alberto, Piella, Elisa Maria, Ferrandes, Fabio, Roveta, Fausto, Boschi, Silvia, Cermelli, Aurora, Gallone, Salvatore, Savi, Lidia, and Rainero, Innocenzo

Subjects
SUMATRIPTAN, MIGRAINE, MIGRAINE aura, NONSTEROIDAL anti-inflammatory agents, CYTOKINES, ANALGESIA, SPREADING cortical depression
Abstract

Migraine is a common neurovascular disorder characterized by recurrent episodes of headache and associated neurological symptoms. At present, a significant portion of patients do not obtain a satisfactory response to acute pain-relieving therapies, including NSAIDs and triptans. In this context, pharmacogenetics plays a key role in the understanding of such a diverse response. In order to investigate whether functional polymorphisms in proinflammatory cytokine genes (IL-1α, IL-1β, IL-1RN; IL-6 and TNF-α) may influence the response to acute treatment, 313 consecutive patients with episodic migraine without aura were enrolled. Pain relief by administration of NSAIDs or triptans for three consecutive migraine attacks was evaluated. We found a significant association between A allele of the TNF-α promoter (−308 A/G) and a lack of efficacy after NSAID administration (p < 0.01, OR 2.51, 95% CI: 1.33 < OR < 4.75 compared to the G allele). Remaining polymorphisms had no significant effect on pain relief. Our study showed that a functional polymorphism in the TNF-α gene significantly modulates the clinical response to NSAID administration in acute attacks. Patients with higher production of the active cytokine during stress showed a significantly lower anti-migraine effect. Our results further support a role for TNF-α in the pathophysiological mechanisms of migraine attack. [ABSTRACT FROM AUTHOR]

Published
2023
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75. A Novel PSEN1Variant Leading to Posterior Cortical Atrophy: A Case Report

Author

Roveta, Fausto, Marcinnò, Andrea, Grassini, Alberto, Ferrandes, Fabio, Cermelli, Aurora, Boschi, Silvia, Gallone, Salvatore, Atzori, Cristiana, Imperiale, Daniele, Dentelli, Patrizia, Pasini, Barbara, Brusco, Alfredo, Rubino, Elisa, and Rainero, Innocenzo

Abstract

We describe a 52-year-old patient with a progressive visuospatial disorder and apraxia. Neuropsychological assessment, neuroradiological findings, and Alzheimer’s disease (AD) core biomarker assay on cerebrospinal fluid led to a diagnosis of posterior cortical atrophy due to AD. We performed a next generation sequencing dementia-gene panel and found the c.1301 C>T p.(Ala434Val) variant in the Presenilin1 (PSEN1)gene. The missense change affects the PAL (Pro433-Ala434-Leu435) motif critical for catalytic activity of the macromolecular γ-secretase complex. Evolutionary and integrated bioinformatic tools predicted a deleterious effect of the variant supporting its role in the AD pathogenesis.

Published
2023
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77. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

Author

de Rojas, I, Moreno-Grau, S, Tesi, N, Grenier-Boley, B, Andrade, V, Jansen, I, Pedersen, N, Stringa, N, Zettergren, A, Hernández, I, Montrreal, L, Antúnez, C, Antonell, A, Tankard, R, Bis, J, Sims, R, Bellenguez, C, Quintela, I, González-Perez, A, Calero, M, Franco-Macías, E, Macías, J, Blesa, R, Cervera-Carles, L, Menéndez-González, M, Frank-García, A, Royo, J, Moreno, F, Huerto Vilas, R, Baquero, M, Diez-Fairen, M, Lage, C, García-Madrona, S, García-González, P, Alarcón-Martín, E, Valero, S, Sotolongo-Grau, O, Ullgren, A, Naj, A, Lemstra, A, Benaque, A, Pérez-Cordón, A, Benussi, A, Rábano, A, Padovani, A, Squassina, A, de Mendonça, A, Arias Pastor, A, Kok, A, Meggy, A, Pastor, A, Espinosa, A, Corma-Gómez, A, Martín Montes, A, Sanabria, Á, Destefano, A, Schneider, A, Haapasalo, A, Kinhult Ståhlbom, A, Tybjærg-Hansen, A, Hartmann, A, Spottke, A, Corbatón-Anchuelo, A, Rongve, A, Borroni, B, Arosio, B, Nacmias, B, Nordestgaard, B, Kunkle, B, Charbonnier, C, Abdelnour, C, Masullo, C, Martínez Rodríguez, C, Muñoz-Fernandez, C, Dufouil, C, Graff, C, Ferreira, C, Chillotti, C, Reynolds, C, Fenoglio, C, Van Broeckhoven, C, Clark, C, Pisanu, C, Satizabal, C, Holmes, C, Buiza-Rueda, D, Aarsland, D, Rujescu, D, Alcolea, D, Galimberti, D, Wallon, D, Seripa, D, Grünblatt, E, Dardiotis, E, Düzel, E, Scarpini, E, Conti, E, Rubino, E, Gelpi, E, Rodriguez-Rodriguez, E, Duron, E, Boerwinkle, E, Ferri, E, Tagliavini, F, Küçükali, F, Pasquier, F, Sanchez-Garcia, F, Mangialasche, F, Jessen, F, Nicolas, G, Selbæk, G, Ortega, G, Chêne, G, Hadjigeorgiou, G, Rossi, G, Spalletta, G, Giaccone, G, Grande, G, Binetti, G, Papenberg, G, Hampel, H, Bailly, H, Zetterberg, H, Soininen, H, Karlsson, I, Alvarez, I, Appollonio, I, Giegling, I, Skoog, I, Saltvedt, I, Rainero, I, Rosas Allende, I, Hort, J, Diehl-Schmid, J, Van Dongen, J, Vidal, J, Lehtisalo, J, Wiltfang, J, Thomassen, J, Kornhuber, J, Haines, J, Vogelgsang, J, Pineda, J, Fortea, J, Popp, J, Deckert, J, Buerger, K, Morgan, K, Fließbach, K, Sleegers, K, Molina-Porcel, L, Kilander, L, Weinhold, L, Farrer, L, Wang, L, Kleineidam, L, Farotti, L, Parnetti, L, Tremolizzo, L, Hausner, L, Benussi, L, Froelich, L, Ikram, M, Deniz-Naranjo, M, Tsolaki, M, Rosende-Roca, M, Löwenmark, M, Hulsman, M, Spallazzi, M, Pericak-Vance, M, Esiri, M, Bernal Sánchez-Arjona, M, Dalmasso, M, Martínez-Larrad, M, Arcaro, M, Nöthen, M, Fernández-Fuertes, M, Dichgans, M, Ingelsson, M, Herrmann, M, Scherer, M, Vyhnalek, M, Kosmidis, M, Yannakoulia, M, Schmid, M, Ewers, M, Heneka, M, Wagner, M, Scamosci, M, Kivipelto, M, Hiltunen, M, Zulaica, M, Alegret, M, Fornage, M, Roberto, N, van Schoor, N, Seidu, N, Banaj, N, Armstrong, N, Scarmeas, N, Scherbaum, N, Goldhardt, O, Hanon, O, Peters, O, Skrobot, O, Quenez, O, Lerch, O, Bossù, P, Caffarra, P, Dionigi Rossi, P, Sakka, P, Hoffmann, P, Holmans, P, Fischer, P, Riederer, P, Yang, Q, Marshall, R, Kalaria, R, Mayeux, R, Vandenberghe, R, Cecchetti, R, Ghidoni, R, Frikke-Schmidt, R, Sorbi, S, Hägg, S, Engelborghs, S, Helisalmi, S, Botne Sando, S, Kern, S, Archetti, S, Boschi, S, Fostinelli, S, Gil, S, Mendoza, S, Mead, S, Ciccone, S, Djurovic, S, Heilmann-Heimbach, S, Riedel-Heller, S, Kuulasmaa, T, Del Ser, T, Lebouvier, T, Polak, T, Ngandu, T, Grimmer, T, Bessi, V, Escott-Price, V, Giedraitis, V, Deramecourt, V, Maier, W, Jian, X, Pijnenburg, Y, Andreoni, S, Ferrarese, C, Sala, G, Zoia, C, Kehoe, P, Garcia-Ribas, G, Sánchez-Juan, P, Pastor, P, Pérez-Tur, J, Piñol-Ripoll, G, Lopez de Munain, A, García-Alberca, J, Bullido, M, Álvarez, V, Lleó, A, Real, L, Mir, P, Medina, M, Scheltens, P, Holstege, H, Marquié, M, Sáez, M, Carracedo, Á, Amouyel, P, Schellenberg, G, Williams, J, Seshadri, S, van Duijn, C, Mather, K, Sánchez-Valle, R, Serrano-Ríos, M, Orellana, A, Tárraga, L, Blennow, K, Huisman, M, Andreassen, O, Posthuma, D, Clarimón, J, Boada, M, van der Flier, W, Ramirez, A, Lambert, J, van der Lee, S, Ruiz, A, de Rojas, Itziar, Moreno-Grau, Sonia, Tesi, Niccolo, Grenier-Boley, Benjamin, Andrade, Victor, Jansen, Iris E, Pedersen, Nancy L, Stringa, Najada, Zettergren, Anna, Hernández, Isabel, Montrreal, Laura, Antúnez, Carmen, Antonell, Anna, Tankard, Rick M, Bis, Joshua C, Sims, Rebecca, Bellenguez, Céline, Quintela, Inés, González-Perez, Antonio, Calero, Miguel, Franco-Macías, Emilio, Macías, Juan, Blesa, Rafael, Cervera-Carles, Laura, Menéndez-González, Manuel, Frank-García, Ana, Royo, Jose Luís, Moreno, Fermin, Huerto Vilas, Raquel, Baquero, Miquel, Diez-Fairen, Mónica, Lage, Carmen, García-Madrona, Sebastián, García-González, Pablo, Alarcón-Martín, Emilio, Valero, Sergi, Sotolongo-Grau, Oscar, Ullgren, Abbe, Naj, Adam C, Lemstra, Afina W, Benaque, Alba, Pérez-Cordón, Alba, Benussi, Alberto, Rábano, Alberto, Padovani, Alessandro, Squassina, Alessio, de Mendonça, Alexandre, Arias Pastor, Alfonso, Kok, Almar A L, Meggy, Alun, Pastor, Ana Belén, Espinosa, Ana, Corma-Gómez, Anas, Martín Montes, Angel, Sanabria, Ángela, DeStefano, Anita L, Schneider, Anja, Haapasalo, Annakaisa, Kinhult Ståhlbom, Anne, Tybjærg-Hansen, Anne, Hartmann, Annette M, Spottke, Annika, Corbatón-Anchuelo, Arturo, Rongve, Arvid, Borroni, Barbara, Arosio, Beatrice, Nacmias, Benedetta, Nordestgaard, Børge G, Kunkle, Brian W, Charbonnier, Camille, Abdelnour, Carla, Masullo, Carlo, Martínez Rodríguez, Carmen, Muñoz-Fernandez, Carmen, Dufouil, Carole, Graff, Caroline, Ferreira, Catarina B, Chillotti, Caterina, Reynolds, Chandra A, Fenoglio, Chiara, Van Broeckhoven, Christine, Clark, Christopher, Pisanu, Claudia, Satizabal, Claudia L, Holmes, Clive, Buiza-Rueda, Dolores, Aarsland, Dag, Rujescu, Dan, Alcolea, Daniel, Galimberti, Daniela, Wallon, David, Seripa, Davide, Grünblatt, Edna, Dardiotis, Efthimios, Düzel, Emrah, Scarpini, Elio, Conti, Elisa, Rubino, Elisa, Gelpi, Ellen, Rodriguez-Rodriguez, Eloy, Duron, Emmanuelle, Boerwinkle, Eric, Ferri, Evelyn, Tagliavini, Fabrizio, Küçükali, Fahri, Pasquier, Florence, Sanchez-Garcia, Florentino, Mangialasche, Francesca, Jessen, Frank, Nicolas, Gaël, Selbæk, Geir, Ortega, Gemma, Chêne, Geneviève, Hadjigeorgiou, Georgios, Rossi, Giacomina, Spalletta, Gianfranco, Giaccone, Giorgio, Grande, Giulia, Binetti, Giuliano, Papenberg, Goran, Hampel, Harald, Bailly, Henri, Zetterberg, Henrik, Soininen, Hilkka, Karlsson, Ida K, Alvarez, Ignacio, Appollonio, Ildebrando, Giegling, Ina, Skoog, Ingmar, Saltvedt, Ingvild, Rainero, Innocenzo, Rosas Allende, Irene, Hort, Jakub, Diehl-Schmid, Janine, Van Dongen, Jasper, Vidal, Jean-Sebastien, Lehtisalo, Jenni, Wiltfang, Jens, Thomassen, Jesper Qvist, Kornhuber, Johannes, Haines, Jonathan L, Vogelgsang, Jonathan, Pineda, Juan A, Fortea, Juan, Popp, Julius, Deckert, Jürgen, Buerger, Katharina, Morgan, Kevin, Fließbach, Klaus, Sleegers, Kristel, Molina-Porcel, Laura, Kilander, Lena, Weinhold, Leonie, Farrer, Lindsay A, Wang, Li-San, Kleineidam, Luca, Farotti, Lucia, Parnetti, Lucilla, Tremolizzo, Lucio, Hausner, Lucrezia, Benussi, Luisa, Froelich, Lutz, Ikram, M Arfan, Deniz-Naranjo, M Candida, Tsolaki, Magda, Rosende-Roca, Maitée, Löwenmark, Malin, Hulsman, Marc, Spallazzi, Marco, Pericak-Vance, Margaret A, Esiri, Margaret, Bernal Sánchez-Arjona, María, Dalmasso, Maria Carolina, Martínez-Larrad, María Teresa, Arcaro, Marina, Nöthen, Markus M, Fernández-Fuertes, Marta, Dichgans, Martin, Ingelsson, Martin, Herrmann, Martin J, Scherer, Martin, Vyhnalek, Martin, Kosmidis, Mary H, Yannakoulia, Mary, Schmid, Matthias, Ewers, Michael, Heneka, Michael T, Wagner, Michael, Scamosci, Michela, Kivipelto, Miia, Hiltunen, Mikko, Zulaica, Miren, Alegret, Montserrat, Fornage, Myriam, Roberto, Natalia, van Schoor, Natasja M, Seidu, Nazib M, Banaj, Nerisa, Armstrong, Nicola J, Scarmeas, Nikolaos, Scherbaum, Norbert, Goldhardt, Oliver, Hanon, Oliver, Peters, Oliver, Skrobot, Olivia Anna, Quenez, Olivier, Lerch, Ondrej, Bossù, Paola, Caffarra, Paolo, Dionigi Rossi, Paolo, Sakka, Paraskevi, Hoffmann, Per, Holmans, Peter A, Fischer, Peter, Riederer, Peter, Yang, Qiong, Marshall, Rachel, Kalaria, Rajesh N, Mayeux, Richard, Vandenberghe, Rik, Cecchetti, Roberta, Ghidoni, Roberta, Frikke-Schmidt, Ruth, Sorbi, Sandro, Hägg, Sara, Engelborghs, Sebastiaan, Helisalmi, Seppo, Botne Sando, Sigrid, Kern, Silke, Archetti, Silvana, Boschi, Silvia, Fostinelli, Silvia, Gil, Silvia, Mendoza, Silvia, Mead, Simon, Ciccone, Simona, Djurovic, Srdjan, Heilmann-Heimbach, Stefanie, Riedel-Heller, Steffi, Kuulasmaa, Teemu, Del Ser, Teodoro, Lebouvier, Thibaud, Polak, Thomas, Ngandu, Tiia, Grimmer, Timo, Bessi, Valentina, Escott-Price, Valentina, Giedraitis, Vilmantas, Deramecourt, Vincent, Maier, Wolfgang, Jian, Xueqiu, Pijnenburg, Yolande A L, Andreoni, Simona, Ferrarese, Carlo, Sala Gessica, Zoia, Chiara Paola, Kehoe, Patrick Gavin, Garcia-Ribas, Guillermo, Sánchez-Juan, Pascual, Pastor, Pau, Pérez-Tur, Jordi, Piñol-Ripoll, Gerard, Lopez de Munain, Adolfo, García-Alberca, Jose María, Bullido, María J, Álvarez, Victoria, Lleó, Alberto, Real, Luis M, Mir, Pablo, Medina, Miguel, Scheltens, Philip, Holstege, Henne, Marquié, Marta, Sáez, María Eugenia, Carracedo, Ángel, Amouyel, Philippe, Schellenberg, Gerard D, Williams, Julie, Seshadri, Sudha, van Duijn, Cornelia M, Mather, Karen A, Sánchez-Valle, Raquel, Serrano-Ríos, Manuel, Orellana, Adelina, Tárraga, Lluís, Blennow, Kaj, Huisman, Martijn, Andreassen, Ole A, Posthuma, Danielle, Clarimón, Jordi, Boada, Mercè, van der Flier, Wiesje M, Ramirez, Alfredo, Lambert, Jean-Charles, van der Lee, Sven J, Ruiz, Agustín, de Rojas, I, Moreno-Grau, S, Tesi, N, Grenier-Boley, B, Andrade, V, Jansen, I, Pedersen, N, Stringa, N, Zettergren, A, Hernández, I, Montrreal, L, Antúnez, C, Antonell, A, Tankard, R, Bis, J, Sims, R, Bellenguez, C, Quintela, I, González-Perez, A, Calero, M, Franco-Macías, E, Macías, J, Blesa, R, Cervera-Carles, L, Menéndez-González, M, Frank-García, A, Royo, J, Moreno, F, Huerto Vilas, R, Baquero, M, Diez-Fairen, M, Lage, C, García-Madrona, S, García-González, P, Alarcón-Martín, E, Valero, S, Sotolongo-Grau, O, Ullgren, A, Naj, A, Lemstra, A, Benaque, A, Pérez-Cordón, A, Benussi, A, Rábano, A, Padovani, A, Squassina, A, de Mendonça, A, Arias Pastor, A, Kok, A, Meggy, A, Pastor, A, Espinosa, A, Corma-Gómez, A, Martín Montes, A, Sanabria, Á, Destefano, A, Schneider, A, Haapasalo, A, Kinhult Ståhlbom, A, Tybjærg-Hansen, A, Hartmann, A, Spottke, A, Corbatón-Anchuelo, A, Rongve, A, Borroni, B, Arosio, B, Nacmias, B, Nordestgaard, B, Kunkle, B, Charbonnier, C, Abdelnour, C, Masullo, C, Martínez Rodríguez, C, Muñoz-Fernandez, C, Dufouil, C, Graff, C, Ferreira, C, Chillotti, C, Reynolds, C, Fenoglio, C, Van Broeckhoven, C, Clark, C, Pisanu, C, Satizabal, C, Holmes, C, Buiza-Rueda, D, Aarsland, D, Rujescu, D, Alcolea, D, Galimberti, D, Wallon, D, Seripa, D, Grünblatt, E, Dardiotis, E, Düzel, E, Scarpini, E, Conti, E, Rubino, E, Gelpi, E, Rodriguez-Rodriguez, E, Duron, E, Boerwinkle, E, Ferri, E, Tagliavini, F, Küçükali, F, Pasquier, F, Sanchez-Garcia, F, Mangialasche, F, Jessen, F, Nicolas, G, Selbæk, G, Ortega, G, Chêne, G, Hadjigeorgiou, G, Rossi, G, Spalletta, G, Giaccone, G, Grande, G, Binetti, G, Papenberg, G, Hampel, H, Bailly, H, Zetterberg, H, Soininen, H, Karlsson, I, Alvarez, I, Appollonio, I, Giegling, I, Skoog, I, Saltvedt, I, Rainero, I, Rosas Allende, I, Hort, J, Diehl-Schmid, J, Van Dongen, J, Vidal, J, Lehtisalo, J, Wiltfang, J, Thomassen, J, Kornhuber, J, Haines, J, Vogelgsang, J, Pineda, J, Fortea, J, Popp, J, Deckert, J, Buerger, K, Morgan, K, Fließbach, K, Sleegers, K, Molina-Porcel, L, Kilander, L, Weinhold, L, Farrer, L, Wang, L, Kleineidam, L, Farotti, L, Parnetti, L, Tremolizzo, L, Hausner, L, Benussi, L, Froelich, L, Ikram, M, Deniz-Naranjo, M, Tsolaki, M, Rosende-Roca, M, Löwenmark, M, Hulsman, M, Spallazzi, M, Pericak-Vance, M, Esiri, M, Bernal Sánchez-Arjona, M, Dalmasso, M, Martínez-Larrad, M, Arcaro, M, Nöthen, M, Fernández-Fuertes, M, Dichgans, M, Ingelsson, M, Herrmann, M, Scherer, M, Vyhnalek, M, Kosmidis, M, Yannakoulia, M, Schmid, M, Ewers, M, Heneka, M, Wagner, M, Scamosci, M, Kivipelto, M, Hiltunen, M, Zulaica, M, Alegret, M, Fornage, M, Roberto, N, van Schoor, N, Seidu, N, Banaj, N, Armstrong, N, Scarmeas, N, Scherbaum, N, Goldhardt, O, Hanon, O, Peters, O, Skrobot, O, Quenez, O, Lerch, O, Bossù, P, Caffarra, P, Dionigi Rossi, P, Sakka, P, Hoffmann, P, Holmans, P, Fischer, P, Riederer, P, Yang, Q, Marshall, R, Kalaria, R, Mayeux, R, Vandenberghe, R, Cecchetti, R, Ghidoni, R, Frikke-Schmidt, R, Sorbi, S, Hägg, S, Engelborghs, S, Helisalmi, S, Botne Sando, S, Kern, S, Archetti, S, Boschi, S, Fostinelli, S, Gil, S, Mendoza, S, Mead, S, Ciccone, S, Djurovic, S, Heilmann-Heimbach, S, Riedel-Heller, S, Kuulasmaa, T, Del Ser, T, Lebouvier, T, Polak, T, Ngandu, T, Grimmer, T, Bessi, V, Escott-Price, V, Giedraitis, V, Deramecourt, V, Maier, W, Jian, X, Pijnenburg, Y, Andreoni, S, Ferrarese, C, Sala, G, Zoia, C, Kehoe, P, Garcia-Ribas, G, Sánchez-Juan, P, Pastor, P, Pérez-Tur, J, Piñol-Ripoll, G, Lopez de Munain, A, García-Alberca, J, Bullido, M, Álvarez, V, Lleó, A, Real, L, Mir, P, Medina, M, Scheltens, P, Holstege, H, Marquié, M, Sáez, M, Carracedo, Á, Amouyel, P, Schellenberg, G, Williams, J, Seshadri, S, van Duijn, C, Mather, K, Sánchez-Valle, R, Serrano-Ríos, M, Orellana, A, Tárraga, L, Blennow, K, Huisman, M, Andreassen, O, Posthuma, D, Clarimón, J, Boada, M, van der Flier, W, Ramirez, A, Lambert, J, van der Lee, S, Ruiz, A, de Rojas, Itziar, Moreno-Grau, Sonia, Tesi, Niccolo, Grenier-Boley, Benjamin, Andrade, Victor, Jansen, Iris E, Pedersen, Nancy L, Stringa, Najada, Zettergren, Anna, Hernández, Isabel, Montrreal, Laura, Antúnez, Carmen, Antonell, Anna, Tankard, Rick M, Bis, Joshua C, Sims, Rebecca, Bellenguez, Céline, Quintela, Inés, González-Perez, Antonio, Calero, Miguel, Franco-Macías, Emilio, Macías, Juan, Blesa, Rafael, Cervera-Carles, Laura, Menéndez-González, Manuel, Frank-García, Ana, Royo, Jose Luís, Moreno, Fermin, Huerto Vilas, Raquel, Baquero, Miquel, Diez-Fairen, Mónica, Lage, Carmen, García-Madrona, Sebastián, García-González, Pablo, Alarcón-Martín, Emilio, Valero, Sergi, Sotolongo-Grau, Oscar, Ullgren, Abbe, Naj, Adam C, Lemstra, Afina W, Benaque, Alba, Pérez-Cordón, Alba, Benussi, Alberto, Rábano, Alberto, Padovani, Alessandro, Squassina, Alessio, de Mendonça, Alexandre, Arias Pastor, Alfonso, Kok, Almar A L, Meggy, Alun, Pastor, Ana Belén, Espinosa, Ana, Corma-Gómez, Anas, Martín Montes, Angel, Sanabria, Ángela, DeStefano, Anita L, Schneider, Anja, Haapasalo, Annakaisa, Kinhult Ståhlbom, Anne, Tybjærg-Hansen, Anne, Hartmann, Annette M, Spottke, Annika, Corbatón-Anchuelo, Arturo, Rongve, Arvid, Borroni, Barbara, Arosio, Beatrice, Nacmias, Benedetta, Nordestgaard, Børge G, Kunkle, Brian W, Charbonnier, Camille, Abdelnour, Carla, Masullo, Carlo, Martínez Rodríguez, Carmen, Muñoz-Fernandez, Carmen, Dufouil, Carole, Graff, Caroline, Ferreira, Catarina B, Chillotti, Caterina, Reynolds, Chandra A, Fenoglio, Chiara, Van Broeckhoven, Christine, Clark, Christopher, Pisanu, Claudia, Satizabal, Claudia L, Holmes, Clive, Buiza-Rueda, Dolores, Aarsland, Dag, Rujescu, Dan, Alcolea, Daniel, Galimberti, Daniela, Wallon, David, Seripa, Davide, Grünblatt, Edna, Dardiotis, Efthimios, Düzel, Emrah, Scarpini, Elio, Conti, Elisa, Rubino, Elisa, Gelpi, Ellen, Rodriguez-Rodriguez, Eloy, Duron, Emmanuelle, Boerwinkle, Eric, Ferri, Evelyn, Tagliavini, Fabrizio, Küçükali, Fahri, Pasquier, Florence, Sanchez-Garcia, Florentino, Mangialasche, Francesca, Jessen, Frank, Nicolas, Gaël, Selbæk, Geir, Ortega, Gemma, Chêne, Geneviève, Hadjigeorgiou, Georgios, Rossi, Giacomina, Spalletta, Gianfranco, Giaccone, Giorgio, Grande, Giulia, Binetti, Giuliano, Papenberg, Goran, Hampel, Harald, Bailly, Henri, Zetterberg, Henrik, Soininen, Hilkka, Karlsson, Ida K, Alvarez, Ignacio, Appollonio, Ildebrando, Giegling, Ina, Skoog, Ingmar, Saltvedt, Ingvild, Rainero, Innocenzo, Rosas Allende, Irene, Hort, Jakub, Diehl-Schmid, Janine, Van Dongen, Jasper, Vidal, Jean-Sebastien, Lehtisalo, Jenni, Wiltfang, Jens, Thomassen, Jesper Qvist, Kornhuber, Johannes, Haines, Jonathan L, Vogelgsang, Jonathan, Pineda, Juan A, Fortea, Juan, Popp, Julius, Deckert, Jürgen, Buerger, Katharina, Morgan, Kevin, Fließbach, Klaus, Sleegers, Kristel, Molina-Porcel, Laura, Kilander, Lena, Weinhold, Leonie, Farrer, Lindsay A, Wang, Li-San, Kleineidam, Luca, Farotti, Lucia, Parnetti, Lucilla, Tremolizzo, Lucio, Hausner, Lucrezia, Benussi, Luisa, Froelich, Lutz, Ikram, M Arfan, Deniz-Naranjo, M Candida, Tsolaki, Magda, Rosende-Roca, Maitée, Löwenmark, Malin, Hulsman, Marc, Spallazzi, Marco, Pericak-Vance, Margaret A, Esiri, Margaret, Bernal Sánchez-Arjona, María, Dalmasso, Maria Carolina, Martínez-Larrad, María Teresa, Arcaro, Marina, Nöthen, Markus M, Fernández-Fuertes, Marta, Dichgans, Martin, Ingelsson, Martin, Herrmann, Martin J, Scherer, Martin, Vyhnalek, Martin, Kosmidis, Mary H, Yannakoulia, Mary, Schmid, Matthias, Ewers, Michael, Heneka, Michael T, Wagner, Michael, Scamosci, Michela, Kivipelto, Miia, Hiltunen, Mikko, Zulaica, Miren, Alegret, Montserrat, Fornage, Myriam, Roberto, Natalia, van Schoor, Natasja M, Seidu, Nazib M, Banaj, Nerisa, Armstrong, Nicola J, Scarmeas, Nikolaos, Scherbaum, Norbert, Goldhardt, Oliver, Hanon, Oliver, Peters, Oliver, Skrobot, Olivia Anna, Quenez, Olivier, Lerch, Ondrej, Bossù, Paola, Caffarra, Paolo, Dionigi Rossi, Paolo, Sakka, Paraskevi, Hoffmann, Per, Holmans, Peter A, Fischer, Peter, Riederer, Peter, Yang, Qiong, Marshall, Rachel, Kalaria, Rajesh N, Mayeux, Richard, Vandenberghe, Rik, Cecchetti, Roberta, Ghidoni, Roberta, Frikke-Schmidt, Ruth, Sorbi, Sandro, Hägg, Sara, Engelborghs, Sebastiaan, Helisalmi, Seppo, Botne Sando, Sigrid, Kern, Silke, Archetti, Silvana, Boschi, Silvia, Fostinelli, Silvia, Gil, Silvia, Mendoza, Silvia, Mead, Simon, Ciccone, Simona, Djurovic, Srdjan, Heilmann-Heimbach, Stefanie, Riedel-Heller, Steffi, Kuulasmaa, Teemu, Del Ser, Teodoro, Lebouvier, Thibaud, Polak, Thomas, Ngandu, Tiia, Grimmer, Timo, Bessi, Valentina, Escott-Price, Valentina, Giedraitis, Vilmantas, Deramecourt, Vincent, Maier, Wolfgang, Jian, Xueqiu, Pijnenburg, Yolande A L, Andreoni, Simona, Ferrarese, Carlo, Sala Gessica, Zoia, Chiara Paola, Kehoe, Patrick Gavin, Garcia-Ribas, Guillermo, Sánchez-Juan, Pascual, Pastor, Pau, Pérez-Tur, Jordi, Piñol-Ripoll, Gerard, Lopez de Munain, Adolfo, García-Alberca, Jose María, Bullido, María J, Álvarez, Victoria, Lleó, Alberto, Real, Luis M, Mir, Pablo, Medina, Miguel, Scheltens, Philip, Holstege, Henne, Marquié, Marta, Sáez, María Eugenia, Carracedo, Ángel, Amouyel, Philippe, Schellenberg, Gerard D, Williams, Julie, Seshadri, Sudha, van Duijn, Cornelia M, Mather, Karen A, Sánchez-Valle, Raquel, Serrano-Ríos, Manuel, Orellana, Adelina, Tárraga, Lluís, Blennow, Kaj, Huisman, Martijn, Andreassen, Ole A, Posthuma, Danielle, Clarimón, Jordi, Boada, Mercè, van der Flier, Wiesje M, Ramirez, Alfredo, Lambert, Jean-Charles, van der Lee, Sven J, and Ruiz, Agustín

Abstract

Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer’s disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer’s disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer’s disease.

Published
2021

78. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

Author

Instituto de Salud Carlos III, Grifols, La Caixa, European Research Council, Pérez-Tur, Jordi [0000-0002-9111-1712], Rojas, Itziar de, Moreno-Grau, Sonia, Tesi, Niccolo, Grenier-Boley, Benjamin, Andrade, Victor, Jansen, Iris E., Pedersen, N. L., Stringa, N., Zettergren, Anna, Hernández, Isabel, Montrreal, Laura, Rossi, Giacomina, Tankard, R. M., Wiltfang, J., Giegling, Ina, Seidu, N. M., Dalmasso, Maria Carolina, Benussi, A., Boschi, Silvia, Sáez, María Eugenia, Binetti, Giuliano, Royo, José Luis, Pérez-Tur, Jordi, Spalletta, Gianfranco, Corbaton-Anchuelo, A., Froelich, L., Satizabal, Claudia L., Hagg, S., Ortega, G., Peters, Oliver, Vogelgsang, Jonathan, Serrano-Rios, M., Gil, S., Djurovic, Srdjan, Van Dongen, Jasper, Deramecourt, V., Kalaria, R. N., Wang, L. S., Goldhardt, O., Charbonnier, Camille, Farotti, Lucia, Kornhuber, Johannes, Andreassen, Ole A., Álvarez, Victoria, Herrmann, Martin J., Pasquier, Florence, Calero, Miguel, Holmes, Clive, Haapasalo, Annakaisa, Scherbaum, Norbert, Scheltens, Philip, Caffarra, P., Pineda, Juan A., Del Ser, Teodoro, Hort, Jakub, Espinosa, A., Bullido, María Jesús, Hampel, Harald, Medina, Miguel, Williams, Julie, Sims, Rebecca, Martinez-Larrad, M. T., Riederer, Peter, Esiri, M., Botne Sando, S., Grunblatt, E., Hoffmann, Per, Hiltunen, Mikko, Kern, Silke, Mendoza, Silvia, Kilander, Lena, Jessen, F., Ghidoni, R., Giedraitis, Vilmantas, Molina-Porcel, Laura, Sánchez-Juan, Pascual, Schmid, Matthias, van Duijn, Cornelia M., Antonell, A., Mir, Pablo, Moreno, F., Ferreira, Catarina B., Skrobot, Olivia, Sanchez-Valle, R., Chene, G., Duron, Emmanuelle, Martin Montes, Ángel, Ciccone, Simona, Piñol-Ripoll, Gerard, Ngandu, Tiia, Dardiotis, Efthimios, Scherer, Martin, Arosio, Beatrice, Meggy, A., Sotolongo-Grau, Oscar, Selbaek, Geir, Aarsland, D., Seshadri, Sudha, Bailly, Henri, Sánchez-García, Florentino, Roberto, Natalia, Armstrong, Nicola J., Farrer, Lindsay A., Popp, Julius, Riedel-Heller, Steffi, Fernández-Fuertes, Marta, Scamosci, Michela, Alcolea, Daniel, Rosas Allende, Irene, Marquié, Marta, Benussi, Luisa, Ewers, Michael, Antúnez, Carmen, van Broeckhoven, Christine, Masullo, C., Vyhnalek, Martin, Bossu, Paola, Appollonio, I., Mayeux, R., Lerch, Ondrej, Rábano, Alberto, Quenez, Olivier, Schneider, Anja, Wallon, David, Macías Sánchez, Juan, PGC-ALZ consortia, Yang, Q., Helisalmi, Seppo, Huisman, M., Lambert, Jean-Charles, Kehoe, Patrick G., Heneka, Michael T., DEGESCO consortium, Papenberg, Goran, Lowenmark, M., Frikke-Schmidt, Ruth, Fornage, Myriam, Kunkle, Brian W., Heilmann-Heimbach, Stefanie, Posthuma, Danielle, Tremolizzo, Lucio, Amouyel, Philippe, Franco-Macías, Emilio, Munoz-Fernandez, C., Sorbi, Sandro, Küçükali, Fahri, Dionigi Rossi, P., Huerto Vilas, Raquel, Spallazzi, Marco, Alarcón-Martín, Emilio, Maier, Wolfgang, de Mendonça, Alexandre, The GR@ACE study group, Benaque, Alba, EADB contributors, IGAP (ADGC, CHARGE, EADI, GERAD), van der Lee, Sven J., DeStefano, Anita, Lleó, Alberto, Kosmidis, Mary H., Rongve, A., Nicolas, Gael, Escott-Price, Valentina, Tybjaerg-Hansen, Anne, Chillotti, Caterina, Pastor, Pau, Buiza-Rueda, Dolores, Alegret, Montserrat, Lage, Carmen, Holmans, Peter A., Polak, Thomas, Pastor, Ana Belén, Nöthen, Markus M., García-Ribas, Guillermo, Pijnenburg, Yolande A L, Vidal, Jean-Sebastien, Squassina, Alessio, Kuulasmaa, Teemu, Pericak-Vance, M. A., Pisanu, Claudia, Fliessbach, Klaus, Grimmer, Timo, Galimberti, Daniela, Parnetti, L., López de Munain, Adolfo, Soininen, Hilkka, Carracedo, Ángel, Deckert, Jurgen, Karlsson, I. K., Buerger, Katharina, Clark, Christopher, Cecchetti, Roberta, Fostinelli, Silvia, Deniz-Naranjo, M. C., Engelborghs, S., Álvarez, Ignacio, Sakka, Paraskevi, Thomassen, Jesper Qvist, Ramirez, A., Holstege, Henne, Marshall, Rachel, Haines, Jonathan L., Hulsman, Marc, Kleineidam, Luca, Ferri, E., Pérez-Cordon, Alba, Menéndez-González, Manuel, van der Flier, Wiesje M., Rainero, Innocenzo, Rujescu, D., Wagner, Michael, Corma-Gómez, Anaïs, Lebouvier, T., Ruiz, Agustín, Vandenberghe, Rik, Weinhold, Leonie, Padovani, Alessandro, Diehl-Schmid, Janine, Mead, Simon, Fenoglio, Chiara, Conti, Elisa, Díez-Fairen, Mónica, Fischer, Peter, Abdelnour, Carla, Giaccone, G., González-Pérez, Antonio, Hartmann, Annette M., Hadjigeorgiou, Georgios, Zulaica, M., Sleegers, Kristel, Martínez Rodríguez, Carmen, García-González, Pablo, Rubino, Elisa, Bis, Joshua C., Orellana, Adelina, Zetterberg, Henrik, Schellenberg, Gerard D., Borroni, Barbara, Sanabria, Angela, Fortea, J., Reynolds, C. A., Gelpi, E., Bernal Sánchez-Arjona, María, Boerwinkle, Eric, Mather, K. A., Jian, X., Saltvedt, Ingvild, Frank-García, Ana, Rosende-Roca, Maitee, Kinhult Stahlbom, Anne, Hanon, Olivier, Skoog, Ingmar, Kivipelto, Miia, Lehtisalo, Jenni, García-Alberca, José María, Dufouil, Carole, Bellenguez, Celine, Ingelsson, Martin, Nacmias, B., Spottke, Annika, Ullgren, Abbe, Hausner, Lucrezia, Arias Pastor, Alfonso, Tsolaki, Magda, Seripa, Davide, Naj, A. C., Clarimón, Jordi, Nordestgaard, Borge G., Valero, Sergi, van Schoor, N. M., Scarpini, E., Graff, Caroline, Boada, Mercè, Tagliavini, F., Scarmeas, N., García-Madrona, Sebastián, Yannakoulia, Mary, Banaj, Nerisa, Blennow, Kaj, Duzel, Emrah, Tárraga, Lluís, Lemstra, A. W., Morgan, K., Kok, A. A. L., Bessi, Valentina, Baquero, Miquel, Rodríguez-Rodríguez, Eloy, Cervera-Carles, Laura, Archetti, Silvana, Grande, Giulia, Dichgans, Martin, Arcaro, Marina, Blesa, Rafael, Real, Luis Miguel, Ikram, M. Arfan, Mangialasche, Francesca, Quintela, Inés, Instituto de Salud Carlos III, Grifols, La Caixa, European Research Council, Pérez-Tur, Jordi [0000-0002-9111-1712], Rojas, Itziar de, Moreno-Grau, Sonia, Tesi, Niccolo, Grenier-Boley, Benjamin, Andrade, Victor, Jansen, Iris E., Pedersen, N. L., Stringa, N., Zettergren, Anna, Hernández, Isabel, Montrreal, Laura, Rossi, Giacomina, Tankard, R. M., Wiltfang, J., Giegling, Ina, Seidu, N. M., Dalmasso, Maria Carolina, Benussi, A., Boschi, Silvia, Sáez, María Eugenia, Binetti, Giuliano, Royo, José Luis, Pérez-Tur, Jordi, Spalletta, Gianfranco, Corbaton-Anchuelo, A., Froelich, L., Satizabal, Claudia L., Hagg, S., Ortega, G., Peters, Oliver, Vogelgsang, Jonathan, Serrano-Rios, M., Gil, S., Djurovic, Srdjan, Van Dongen, Jasper, Deramecourt, V., Kalaria, R. N., Wang, L. S., Goldhardt, O., Charbonnier, Camille, Farotti, Lucia, Kornhuber, Johannes, Andreassen, Ole A., Álvarez, Victoria, Herrmann, Martin J., Pasquier, Florence, Calero, Miguel, Holmes, Clive, Haapasalo, Annakaisa, Scherbaum, Norbert, Scheltens, Philip, Caffarra, P., Pineda, Juan A., Del Ser, Teodoro, Hort, Jakub, Espinosa, A., Bullido, María Jesús, Hampel, Harald, Medina, Miguel, Williams, Julie, Sims, Rebecca, Martinez-Larrad, M. T., Riederer, Peter, Esiri, M., Botne Sando, S., Grunblatt, E., Hoffmann, Per, Hiltunen, Mikko, Kern, Silke, Mendoza, Silvia, Kilander, Lena, Jessen, F., Ghidoni, R., Giedraitis, Vilmantas, Molina-Porcel, Laura, Sánchez-Juan, Pascual, Schmid, Matthias, van Duijn, Cornelia M., Antonell, A., Mir, Pablo, Moreno, F., Ferreira, Catarina B., Skrobot, Olivia, Sanchez-Valle, R., Chene, G., Duron, Emmanuelle, Martin Montes, Ángel, Ciccone, Simona, Piñol-Ripoll, Gerard, Ngandu, Tiia, Dardiotis, Efthimios, Scherer, Martin, Arosio, Beatrice, Meggy, A., Sotolongo-Grau, Oscar, Selbaek, Geir, Aarsland, D., Seshadri, Sudha, Bailly, Henri, Sánchez-García, Florentino, Roberto, Natalia, Armstrong, Nicola J., Farrer, Lindsay A., Popp, Julius, Riedel-Heller, Steffi, Fernández-Fuertes, Marta, Scamosci, Michela, Alcolea, Daniel, Rosas Allende, Irene, Marquié, Marta, Benussi, Luisa, Ewers, Michael, Antúnez, Carmen, van Broeckhoven, Christine, Masullo, C., Vyhnalek, Martin, Bossu, Paola, Appollonio, I., Mayeux, R., Lerch, Ondrej, Rábano, Alberto, Quenez, Olivier, Schneider, Anja, Wallon, David, Macías Sánchez, Juan, PGC-ALZ consortia, Yang, Q., Helisalmi, Seppo, Huisman, M., Lambert, Jean-Charles, Kehoe, Patrick G., Heneka, Michael T., DEGESCO consortium, Papenberg, Goran, Lowenmark, M., Frikke-Schmidt, Ruth, Fornage, Myriam, Kunkle, Brian W., Heilmann-Heimbach, Stefanie, Posthuma, Danielle, Tremolizzo, Lucio, Amouyel, Philippe, Franco-Macías, Emilio, Munoz-Fernandez, C., Sorbi, Sandro, Küçükali, Fahri, Dionigi Rossi, P., Huerto Vilas, Raquel, Spallazzi, Marco, Alarcón-Martín, Emilio, Maier, Wolfgang, de Mendonça, Alexandre, The GR@ACE study group, Benaque, Alba, EADB contributors, IGAP (ADGC, CHARGE, EADI, GERAD), van der Lee, Sven J., DeStefano, Anita, Lleó, Alberto, Kosmidis, Mary H., Rongve, A., Nicolas, Gael, Escott-Price, Valentina, Tybjaerg-Hansen, Anne, Chillotti, Caterina, Pastor, Pau, Buiza-Rueda, Dolores, Alegret, Montserrat, Lage, Carmen, Holmans, Peter A., Polak, Thomas, Pastor, Ana Belén, Nöthen, Markus M., García-Ribas, Guillermo, Pijnenburg, Yolande A L, Vidal, Jean-Sebastien, Squassina, Alessio, Kuulasmaa, Teemu, Pericak-Vance, M. A., Pisanu, Claudia, Fliessbach, Klaus, Grimmer, Timo, Galimberti, Daniela, Parnetti, L., López de Munain, Adolfo, Soininen, Hilkka, Carracedo, Ángel, Deckert, Jurgen, Karlsson, I. K., Buerger, Katharina, Clark, Christopher, Cecchetti, Roberta, Fostinelli, Silvia, Deniz-Naranjo, M. C., Engelborghs, S., Álvarez, Ignacio, Sakka, Paraskevi, Thomassen, Jesper Qvist, Ramirez, A., Holstege, Henne, Marshall, Rachel, Haines, Jonathan L., Hulsman, Marc, Kleineidam, Luca, Ferri, E., Pérez-Cordon, Alba, Menéndez-González, Manuel, van der Flier, Wiesje M., Rainero, Innocenzo, Rujescu, D., Wagner, Michael, Corma-Gómez, Anaïs, Lebouvier, T., Ruiz, Agustín, Vandenberghe, Rik, Weinhold, Leonie, Padovani, Alessandro, Diehl-Schmid, Janine, Mead, Simon, Fenoglio, Chiara, Conti, Elisa, Díez-Fairen, Mónica, Fischer, Peter, Abdelnour, Carla, Giaccone, G., González-Pérez, Antonio, Hartmann, Annette M., Hadjigeorgiou, Georgios, Zulaica, M., Sleegers, Kristel, Martínez Rodríguez, Carmen, García-González, Pablo, Rubino, Elisa, Bis, Joshua C., Orellana, Adelina, Zetterberg, Henrik, Schellenberg, Gerard D., Borroni, Barbara, Sanabria, Angela, Fortea, J., Reynolds, C. A., Gelpi, E., Bernal Sánchez-Arjona, María, Boerwinkle, Eric, Mather, K. A., Jian, X., Saltvedt, Ingvild, Frank-García, Ana, Rosende-Roca, Maitee, Kinhult Stahlbom, Anne, Hanon, Olivier, Skoog, Ingmar, Kivipelto, Miia, Lehtisalo, Jenni, García-Alberca, José María, Dufouil, Carole, Bellenguez, Celine, Ingelsson, Martin, Nacmias, B., Spottke, Annika, Ullgren, Abbe, Hausner, Lucrezia, Arias Pastor, Alfonso, Tsolaki, Magda, Seripa, Davide, Naj, A. C., Clarimón, Jordi, Nordestgaard, Borge G., Valero, Sergi, van Schoor, N. M., Scarpini, E., Graff, Caroline, Boada, Mercè, Tagliavini, F., Scarmeas, N., García-Madrona, Sebastián, Yannakoulia, Mary, Banaj, Nerisa, Blennow, Kaj, Duzel, Emrah, Tárraga, Lluís, Lemstra, A. W., Morgan, K., Kok, A. A. L., Bessi, Valentina, Baquero, Miquel, Rodríguez-Rodríguez, Eloy, Cervera-Carles, Laura, Archetti, Silvana, Grande, Giulia, Dichgans, Martin, Arcaro, Marina, Blesa, Rafael, Real, Luis Miguel, Ikram, M. Arfan, Mangialasche, Francesca, and Quintela, Inés

Abstract

Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer's disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer's disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer's disease.

Published
2021

88. Compromiso del espectador en 'Viajo porque lo necesito, vuelvo porque te quiero'

Author

Boschi, Silvia

Subjects
cinema brasileiro contemporâneo, the body in the cinema, le corps dans le cinéma, o corpo no cinema, spectateur, contemporary Brazilian cinema, cine brasileño contemporáneo, el cuerpo en el cine, cinéma brésilien contemporain, espectador, the spectator
Abstract

In this paper we propose an analysis of the film I travel because I have to, I come back because I love you (Marcelo Gomes and Karim Aïnouz, 2009) through anapproach that takes into account the dimension of the body in its affective powers, both in the way they occur in the film and in the way they affect and mobilize the spectator's experience., En este ensayo proponemos un análisis de la película Viajo porque lo necesito, vuelvo porque te quiero (Marcelo Gomes y Karim Aïnouz, 2009) a través de un enfoque que la dimensión del cuerpo en sus facultades afectivas, tanto en la forma en que se producen en la película, así como en la forma en que solicitan y promueven el compromiso del espectador., Dans cet essai, nous proposons une analyse du film Je voyage parce que j'en ai besoin, je reviens parce que je t'aime (Marcelo Gomes et Karim Aïnouz, 2009) à travers une approche qui la dimension du corps dans ses pouvoirs affectifs, à la fois dans la manière dont ils se produisent dans le film ainsi que dans la manière dont ils sollicitent et encouragent l'engagement du spectateur., Neste ensaio nos propomos a uma análise do filme Viajo porque preciso, volto porque te amo (Marcelo Gomes e Karim Aïnouz, 2009) através de uma abordagem que leve em conta a dimensão do corpo em suas potências afetivas, tanto na maneira como essas se dão no filme quanto no modo como solicitam e promovem o engajamento do espectador.

Published
2018

89. Engajamentos do espectador em 'Viajo porque preciso, volto porque te amo'

Author

Boschi, Silvia

Subjects
Corpo no cinema, Contemporary Brazilian cinema, o corpo no cinema, lcsh:Visual arts, lcsh:Motion pictures, Cinema brasileiro contemporâneo, Body in the cinema, lcsh:N1-9211, espectador, cinema brasileiro contemporâneo, Faculdade de Artes e Humanidades, lcsh:PN1993-1999, Spectator, Espectador
Abstract

Neste ensaio nos propomos a uma análise do filme Viajo porque preciso, volto porque te amo (Marcelo Gomes e Karim Aïnouz, 2009) através de uma abordagem que leve em conta a dimensão do corpo em suas potências afetivas, tanto na maneira como essas se dão no filme quanto no modo como solicitam e promovem o engajamento do espectador., Cinema & Território, N.º 3 (2018): CINEMA e IDENTIDADE

Published
2018
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90. Response to a letter to the editor

Author

Rubino, Elisa, primary, Zhang, Ming, additional, Mongini, Tiziana, additional, Boschi, Silvia, additional, Vercelli, Liliana, additional, Vacca, Alessandro, additional, Govone, Flora, additional, Gai, Annalisa, additional, Giordana, Maria Teresa, additional, Grinberg, Mark, additional, Rogaeva, Ekaterina, additional, and Rainero, Innocenzo, additional

Published
2019
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91. ATXN2 intermediate repeat expansions influence the clinical phenotype in frontotemporal dementia

Author

Rubino, Elisa, primary, Mancini, Cecilia, additional, Boschi, Silvia, additional, Ferrero, Patrizia, additional, Ferrone, Marina, additional, Bianca, Stefano, additional, Zucca, Milena, additional, Orsi, Laura, additional, Pinessi, Lorenzo, additional, Govone, Flora, additional, Vacca, Alessandro, additional, Gai, Annalisa, additional, Giordana, Maria Teresa, additional, Brusco, Alfredo, additional, and Rainero, Innocenzo, additional

Published
2019
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92. High Risk of Suicide in Behavioral Variant Frontotemporal Dementia

Author

Zucca, Milena, primary, Rubino, Elisa, additional, Vacca, Alessandro, additional, Govone, Flora, additional, Gai, Annalisa, additional, De Martino, Paola, additional, Boschi, Silvia, additional, Gentile, Salvatore, additional, Giordana, Maria Teresa, additional, and Rainero, Innocenzo, additional

Published
2018
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94. Peripheral device to quantify grip and pinch capacity of children

Author

Bischof, Karoline de Paula, primary, Silva, Alessandro Pereira da, additional, Motta, Willian Molizane Almeida, additional, Silva, André Roberto Fernandes da, additional, Morais, Antônio Vinícius, additional, Scardovelli, Terigi Augusto, additional, Martucci Neto, Hélio, additional, Manrique, Ana Lúcia, additional, and Boschi, Silvia Regina Matos da Silva, additional

Published
2018
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98. A peculiar case of LGMD with rimmed vacuoles

Author

Ponzalino, Valentina, Vercelli, Liliana, Chiadò Piat, L., Vittonatto, Elisa, Boschi, Silvia, Bortolani, Sara, Xu, L., Lek, M., Johnson, K., Topf, A., Macarthur, D., Straub, V., and Mongini, Tiziana Enrica

Published
2016

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