22 documents found, page 1 of 3

Practical and Multidisciplinary Review on Wilson Disease: The Portuguese Perspe...

Wilson disease (WD) is a genetic disorder of copper metabolism caused by mutations in the ATP7B gene resulting in toxic copper accumulation in several organs. WD can manifest as liver disease, a progressive neurological disorder, a psychiatric illness, or a combination of these. Other clinical manifestations can also occur. Diagnosis is challenging and typically requires a range of biochemical tests, imaging, g...

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

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 de investigadores e artistas como Pedro Alves, Nelson Guerreiro, António Figueiredo Marques, Elena Gordienko, María Luisa F. Falcón, Cláudia Galhós, Rui Catalão, Tiago Cadete, Raquel André, Samuel Vi...

Uncommon Movement Disorders in Chronic Hepatic Disease with Response to Rifaximin

Background: Chronic hepatic disease can present with extrapyramidal symptoms. We describe two cases that presented with highly unusual movement disorders: ballism and gait freezing. Case report: Patient 1 is a 42-year-old man with previous episodes of hepatic encephalopathy (HE) who presented with upper limb dystonia and generalized chorea that progressed to ballism. Patient 2 is a 55-year-old woman who present...