63 documents found, page 1 of 7

Non-Invasive Cerebellar Stimulation in Hereditary Cerebellar Ataxias

Hereditary cerebellar ataxias (HCA) are a heterogeneous group of neurological disorders with several underlying genetic mechanisms. The available treatments are still scarce, however the growing interest in cerebellar neurostimulation has revealed promising results. We aimed to review the published studies on transcranial direct current stimulation (tDCS) and transcranial magnetic stimulation (TMS) in HCA. A li...

Targeted Disease-Specific Therapy for Patients with Hereditary Transthyretin Am...

CLIL for higher education lecturers: a small private online course

The concept of Higher Education Institutions (HEIs) as ecosystems which thrive by offering English-taught programmes to ever-increasing numbers of international students as well as providing multilingual spaces for home students is a reality in many parts of Europe and beyond. Leask (2015) sees this as an opportunity to improve the pedagogical quality of education. This implies supporting the continued professi...

Heterogeneity in families with ATTRV30M amyloidosis: a historical and longitudi...

Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is an inherited disease, where the study of family history holds importance. This study evaluates the changes of age-of-onset (AOO) and other age-related clinical factors within and among families affected by ATTRv amyloidosis. We analysed information from 934 trees, focusing on family, parents, probands and siblings relationships. We focused on 1494 fema...

The contribution of the artistic workshops measured by the Rosenberg Self-Estee...

Mental health is now considered indispensable for well-being and general health. Self-esteem, in turn, is an important indicator of mental health. Knowing the self-esteem of people with Mental Illness thus becomes an important part of the process of help and recovery, promoting the implementation of appropriate therapeutic measures. This study aims to determine the impact of the INcluir workshops on participant...

Quality of life of higher education students at the Polytechnic Institutes of S...

Objective: This study aims to determine the quality of life of higher education students at the Polytechnic Institutes of Santarem and Leiria during the COVID-19 pandemic. Methods: The population consists of 6483 students attending higher education, from both Institutes. A total of 775 participants selected by convenience sampling, participated in the study. Study with a quantitative, descriptive, correlational...

Contributo das oficinas artísticas mensurado pela escala de autoestima de Rosen...

A prevalência anual das perturbações psiquiátricas afeta mais de um quinto da população portuguesa. Esta prevalência é a segunda mais alta a nível europeu. Sabendo-se da existência da relação entre a autoestima e as doenças mentais, é necessário trabalhar a autoestima. Conhecer a autoestima das pessoas com doença mental (DM) é relevante para o processo de ajuda e, para tal, foi utilizada a escala de autoestima ...

Efficacy and safety of vutrisiran for patients with hereditary transthyretin-me...

Background: The study objective was to assess the effect of vutrisiran, an RNA interference therapeutic that reduces transthyretin (TTR) production, in patients with hereditary transthyretin (ATTRv) amyloidosis with polyneuropathy. Methods: HELIOS-A was a phase 3, global, open-label study comparing the efficacy and safety of vutrisiran with an external placebo group (APOLLO study). Patients were randomized 3:1 ...

Gait characterization and analysis of hereditary amyloidosis associated with tr...

Hereditary amyloidosis associated with transthyretin (ATTRv), is a rare autosomal dominant disease characterized by length-dependent symmetric polyneuropathy that has gait impairment as one of its consequences. The gait pattern of V30M ATTRv amyloidosis patients has been described as similar to that of diabetic neuropathy, associated with steppage, but has never been quantitatively characterized. In this study ...

Long-term efficacy and safety of inotersen for hereditary transthyretin amyloid...

Background: Hereditary transthyretin amyloidosis (hATTR/ATTRv) results from the deposition of misfolded transthyretin (TTR) throughout the body, including peripheral nerves. Inotersen, an antisense oligonucleotide inhibitor of hepatic TTR production, demonstrated a favorable efficacy and safety profile in patients with the polyneuropathy associated with hATTR in the NEURO-TTR (NCT01737398) study. We report long...