14 documents found, page 1 of 2

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

The Incidence of Guillain-Barré Syndrome during COVID-19 Pandemic: A Portuguese...

Introduction: Guillain-Barré syndrome (GBS) is a rare peripheral nervous system inflammatory disease with an annual estimated incidence of 1-2/100 000. Several studies relate GBS with vaccination, especially against influenza. The literature is discordant on GBS incidence during the pandemic. Additionally, while vaccination is globally ongoing, GBS cases have been associated with an inoculation against SARS-CoV...

As Competências dos Alunos do Ensino Profissional e a Inserção no Mercado de Tr...

O ritmo a que se desenvolve o conhecimento científico e tecnológico e a que circula a informação, implica novas exigências do mercado de trabalho. Os profissionais do século XXI, para além de conhecimentos, carecem de competências que implicam uma adaptação às transformações provocadas pela inovação tecnológica. Este estudo tem como objetivo avaliar qual a perceção que os alunos dos cursos de dupla certificação...

Health-related quality of life in hereditary transthyretin amyloidosis polyneur...

Background: Hereditary Transthyretin Amyloidosis Polyneuropathy is a rare life-threatening neurologic disease that imposes considerable mortality and it is associated with progressive related disabilities. In this study, we aimed to assess the effect of the disease across health-related quality of life dimensions, in both carriers of the mutation and patients, to compare health-related quality of life with gene...

Inotersen preserves or improves quality of life in hereditary transthyretin amy...

Objective: To examine the impact on quality of life (QOL) of patients with hATTR amyloidosis with polyneuropathy treated with inotersen (Tegsedi™) versus placebo. Methods: Data were from the NEURO-TTR trial (ClinicalTrials.gov Identifier: NCT01737398), a phase 3, multinational, randomized, double-blind, placebo-controlled study of inotersen in patients with hATTR amyloidosis with polyneuropathy. At baseline and...

Health-related quality of life in hereditary transthyretin amyloidosis polyneur...

Background: Hereditary Transthyretin Amyloidosis Polyneuropathy is a rare life-threatening neurologic disease that imposes considerable mortality and it is associated with progressive related disabilities. In this study, we aimed to assess the effect of the disease across health-related quality of life dimensions, in both carriers of the mutation and patients, to compare health-related quality of life with gene...

A phase II, open-label, extension study of long-term patisiran treatment in pat...

Background: Patisiran, an RNA interference therapeutic, has demonstrated robust reduction of wild-type and mutant transthyretin protein and was able to improve polyneuropathy and quality of life following 18 months of treatment in patients with hereditary transthyretin-mediated (hATTR) amyloidosis. In this 24-month Phase II open-label extension study, we evaluated the effects of patisiran treatment (0.3 mg/kg i...

Health-related quality of life in hereditary transthyretin amyloidosis polyneur...

Background Hereditary Transthyretin Amyloidosis Polyneuropathy is a rare life-threatening neurologic disease that imposes considerable mortality and it is associated with progressive related disabilities. In this study, we aimed to assess the effect of the disease across health-related quality of life dimensions, in both carriers of the mutation and patients, to compare health-related quality of life with gener...

Progression of myocardial sympathetic denervation assessed by 123I-MIBG imaging...

Introduction: Familial amyloid polyneuropathy (FAP) is a rare disease caused by systemic deposition of amyloidogenic variants of the transthyretin (TTR) protein. The TTR-V30M mutation is caused by the substitution of valine by methionine at position 30 and mainly affects the peripheral and autonomic nervous systems. Cardiovascular manifestations are common and are due to autonomic denervation and to amyloid dep...

Biochemical and molecular heterogeneity in carnitine palmitoyltransferase ii de...

Introduction: Carnitine palmitoytransferase II (CPTII) deficiency is a recessively inherited disorder of lipid metabolism. CPT II deficiency has several clinical presentations: the adult form is characterized by episodes of rhabdomyolysis, usually triggered by extensive exercice, cold, fever or prolonged fasting and the infantile-type CPT II hepatocardiomuscular form presents as severe attacks of hypoketotic, h...