8 documents found, page 1 of 1

Portuguese Consensus Guidelines for the Diagnosis and Treatment of Myasthenia G...

A miastenia gravis é uma doença autoimune da junção neuromuscular, cuja fisiopatologia consiste na produção de anticorpos patogénicos, mais frequentemente dirigidos contra o recetor nicotínico da acetilcolina e, mais raramente, contra a cinase específica do músculo. Outros elementos fisiopatológicos importantes incluem a cascata do complemento e as linhagens linfocitárias B e T. O diagnóstico assenta em fraquez...

Portuguese Consensus Guidelines for the Diagnosis and Treatment of Myasthenia G...

Myasthenia gravis is an autoimmune disease that affects the neuromuscular junction, mainly through the action of pathogenic antibodies such as those directed against the nicotinic acetylcholine receptor or, more infrequently, against the muscle specific kinase. Other important components of the autoimmune process include the complement pathway and B and T cell populations. Diagnosis is based on the finding of f...

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...

Clinical, biochemical, molecular, and histological features of 65 Portuguese pa...

Introduction: Mitochondrial disorders display remarkable genetic and phenotypic heterogeneity. Methods: We performed a retrospective analysis of the clinical, histological, biochemical, and genetic features of 65 patients with molecular diagnoses of mitochondrial disorders. Results: The most common genetic diagnosis was a single large-scale mitochondrial DNA (mtDNA) deletion (41.5%), and the most frequent clini...

Reply Cruz et al 2017 Muscle & Nerve

We appreciate the interest shown by Drs Finsterer and Zarrouk-Mahjoub in our study.1 Although we agree with the comments made on the mode of transmission of several mtDNA-associated disorders, the analysis of the families and the patterns of inheritance were beyond the scope of our study. As we stated in the Discussion, we do admit the possibility of a selection bias towards mitochondrial disorders with skeleta...

Clinical, biochemical, molecular, and histological features of 65 Portuguese pa...

Authors’ reply to the Drs. Finsterer and Zarrouk-Mahjoub comments for the study “Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders” This study confirms the high relative frequency of single large-scale deletions among mitochondrial disorders as well as its particular association with CPEO. Muscle histology seems to be particularly useful in older ...

CEFALEIAS: CEFALEIA EM SALVAS

Multiple sclerosis: social and economic implications.

Multiple Sclerosis (MS) is the most common demyelinating disease of the Central Nervous System. It is more frequently diagnosed in young individuals between 20 and 40 years old. MS is the leading non-traumatic cause for disability in young adults in western countries. Portuguese prevalence of the disease is about 50 per 100,000 inhabitants, which means that there are around 5,000 people with MS in Portugal. Our...