21 documents found, page 1 of 3

Doenças mitocondriais na era da sequenciação de nova geração: estudo de 450 doe...

As doenças mitocondriais (DM) são doenças raras, clínica e geneticamente heterogéneas, de difícil diagnóstico, para as quais não existe uma terapia eficaz. O desenvolvimento da tecnologia de sequenciação de nova geração (NGS) revolucionou o diagnóstico molecular deste grupo de doenças, permitindo a identificação de novos genes associados a estas patologias. Nesta nova era genética, através da utilização da tecn...

Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Gene...

Mitochondrial diseases are the most common inherited inborn error of metabolism resulting in deficient ATP generation, due to failure in homeostasis and proper bioenergetics. The most frequent mitochondrial disease manifestation in children is Leigh syndrome (LS), encompassing clinical, neuroradiological, biochemical, and molecular features. It typically affects infants but occurs anytime in life. Considering r...

Cidadanias pandêmicas: as formas conectivas do habitar

It’s what it is, tomorrow is another day! Interview with Angel Vianna

Angel and Klauss Vianna are important researchers of the body and gesture in Brazil. Since the 1950s, with the School and the Ballet Klauss Vianna, in Belo Horizonte, they have influenced many generations, strongly contributing with the artistic and pedagogical fields. In this interview, Angel Vianna presents the highlights of her trajectory in dance and it's interface with theater and therapeutics, focusing on...

Pons Calcifications and Striatal Necrosis in ADAR1 Aicardi‐Goutières Syndrome

Analysis of President Jair Bolsonaro's speeches in the midst of the pandemic: i...

At the end of 2019, an infectious disease caused by the severe acute respiratory syndrome coronavirus 2, currently known as COVID-19, appeared in China. Within a globalized society, the worldwide spread of the new and highly contagious coronavirus was inevitable. Until May 7, 2020 Brazil indicated, through an official balance sheet prepared by the Ministry of Health, a number of 9,146 deaths and 135,106 confirm...

Diagnosis of Aicardi‐Goutières Syndrome in Adults: A Case Series

Introduction: Aicardi-Goutières syndrome (AGS) is a genetic disease presenting with early-onset encephalopathy, generalized dystonia, spasticity, and cognitive disability. Diagnosis may be difficult in adults, as the clinical course seems static from infancy. Methods: AGS patients from an adult movement disorders outpatient clinic were retrospectively analyzed. Results: A total of 5 patients and 1 asymptomatic ...

A presença do texto na dança e no teatro contemporâneos

Este trabalho é financiado por fundos nacionais através da FCT – Fundação para a Ciência e a Tecnologia, I.P., no âmbito dos projetos «SFRH/BPD/120028/2016», «UIDB/00279/2020» e «UIDP/00279/2020».; A presença do texto na dança e no teatro contemporâneos participa da reflexão iniciada no contexto do Colóquio Internacional de título homónimo, que decorreu em Maio de 2018 (Lisboa) e que contou com a participação d...

Feeling through Networking: Aesthetic Net-Activism in the Collaborative Action ...

The new communicative technologies brought forth different forms of collaborative practices that cross different fields of daily life, transforming the sphere of feeling. This article is an invitation to think about the networks in the dimension of their ecological sensitivity from collaborations that overcome the great separations of Western thought – between human, technology and nature – thus compromising th...

Targeted next generation sequencing identifies novel pathogenic variants and pr...

Mitochondrial diseases (MD) are a group of rare inherited disorders, characterized by phenotypic heterogeneity, with hitherto no effective therapeutic options. The aim of this study was to develop a next generation sequencing (NGS) strategy, by using a custom gene panel and whole mitochondrial genome, to identify the disease causing pathogenic variants in 146 patients suspicious of MD. The molecular analysis of...