Dissertation/ Thesis

Internship Report and Monograph entitled 'Gene therapy in the treatment of Genetic Epilepsies' ; Relatório de Estágio e Monografia intitulada 'Gene therapy in the treatment of Genetic Epilepsies'

التفاصيل البيبلوغرافية
العنوان: Internship Report and Monograph entitled 'Gene therapy in the treatment of Genetic Epilepsies' ; Relatório de Estágio e Monografia intitulada 'Gene therapy in the treatment of Genetic Epilepsies'
المؤلفون: Rodrigues, Sofia Grãos
المساهمون: Santos, Carina Cordeiro dos, Almeida, Luís Fernando Morgado Pereira de
سنة النشر: 2023
المجموعة: Universidade de Coimbra: Estudo Geral
مصطلحات موضوعية: Terapia génica, Epilepsias genéticas, mutação YWHAG, Encefalopatia Epilética, Síndrome de Dravet, Gene therapy, Genetic Epilepsies, YWHAG mutatio, Epileptic Encephalopathy, Dravet Syndrome
الوصف: Relatório de Estágio do Mestrado Integrado em Ciências Farmacêuticas apresentado à Faculdade de Farmácia ; Firstly, in the Internship Report about my internship in Community Pharmacy, it is presented a SWOT analysis, alongside a brief contextualization about the pharmaceutical field in community pharmacy, as well as some illustrative clinical cases that work as an example of an average day in a Portuguese pharmacy. This internship occurred in a Community Pharmacy in Leiria, between January and June of 2023, with a total of 816h. Secondly, concerning the Monograph entitled "Gene therapy in the treatment of Genetic Epilepsies" it is vital to retain that epilepsy is a prevalent disease of the nervous system that primarily results in recurrent unprovoked seizures. It is estimated that around fifty million people worldwide have epilepsy, with a special prevalence in developing countries. Epilepsy has a great impact in quality of life, an increased mortality rate, as well as important economic implications. It is calculated that around 70-80% of epilepsies result from genetic factors. Traditional pharmacological approaches are currently seen as insufficient, particularly in certain epileptic syndromes with refractory seizures. However, the use of molecular diagnosis, genetic testing and genetic therapy tools are rapidly increasing and altering approaches surrounding epilepsy diagnosis and treatment. Here in, epilepsies with a genetic origin are discussed, particularly, Dravet Syndrome, Angelman Syndrome and YWHAG mutations, as well as promising therapeutic strategies for these diseases. ; No meu Relatório de Estágio relativo ao meu estágio em Farmácia Comunitária, é apresentada uma Análise SWOT, uma breve contextualização da área de atuação de um farmacêutico comunitário, bem como alguns casos clínicos ilustrativos que servem de exemplo àquilo que pode ser um dia habitual numa farmácia portuguesa. O Estágio Curricular decorreu numa farmácia comunitária em Leiria, entre os meses de janeiro e junho, com um total de ...
نوع الوثيقة: master thesis
اللغة: English
Relation: https://hdl.handle.net/10316/112744; 203504356
الاتاحة: https://hdl.handle.net/10316/112744
Rights: info:eu-repo/semantics/openAccess
رقم الانضمام: edsbas.F3A7B715
قاعدة البيانات: BASE