16 documents found, page 1 of 2
Late Onset Neuromyelitis Optica Spectrum Disorders (LONMOSD) from a Nationwide ...
Santos, E; Moura, J; Samões, R; Sousa, AP; Mendonça, T; Abreu, P; Guimarães, J; Correia, I; Durães, J; Sousa, L; Ferreira, J; de Sá, J; Sousa, FIntroduction: Several neuroimmunological disorders have distinct phenotypes according to the age of onset, as in multiple sclerosis or myasthenia gravis. It is also described that late onset NMOSD (LONMOSD) has a different phenotype. Objective: To describe the clinical/demographic characteristics of the LONMOSD and distinguish them from those with early onset (EONMOSD). Methods: From a nationwide Portuguese NMO...
Neuromyelitis Optica Spectrum Disorders: a Nationwide Portuguese Clinical Epide...
Santos, E; Rocha, AL; Oliveira, V; Ferro, D; Samões, R; Sousa, AP; Figueiroa, S; Mendonça, T; Abreu, P; Guimarães, J; Sousa, R; Melo, C; Correia, IIntroduction: Neuromyelitis optica spectrum disorder (NMOSD) is a rare disorder in which astrocyte damage and/or demyelination often cause severe neurological deficits. Objective: To identify Portuguese patients with NMOSD and assess their epidemiological/clinical characteristics. Methods: This was a nationwide multicenter study. Twenty-four Portuguese adult and 3 neuropediatric centers following NMOSD patients...
Multiple Sclerosis Patient Management During the COVID-19 Pandemic: Practical R...
Cerqueira, J; Ladeira, A; Silva, AM; Timóteo, A; Vale, J; Sousa, L; Arenga, M; Abreu, P; Guerreiro, R; Sá, JThe spread of the COVID-19 pandemic has imposed significant challenges on healthcare provision, requiring changes in the conventional patient management, particularly in chronic diseases like multiple sclerosis (MS). To increase patient safety and reduce the risk of infection, while ensuring an appropriate and regular follow-up, tele-medicine gained prominence as a valid alternative to face-to-face appointments...
Neuromyelitis optica spectrum disorders: A nationwide Portuguese clinical epide...
Santos, E; Rocha, AL; Oliveira, V; Ferro, D; Samões, R; Sousa, P; Figueiroa, S; Mendonça, T; Abreu, P; Guimarães, J; Sousa, R; Melo, C; Correia, IIntroduction: Neuromyelitis optica spectrum disorder (NMOSD) is a rare disorder in which astrocyte damage and/or demyelination often cause severe neurological deficits. Objective: To identify Portuguese patients with NMOSD and assess their epidemiological/clinical characteristics. Methods: This was a nationwide multicenter study. Twenty-four Portuguese adult and 3 neuropediatric centers following NMOSD patients...
Neuromyelitis optica spectrum disorders: A nationwide Portuguese clinical epide...
Santos, E; Rocha, AL; Oliveira, V; Ferro, D; Samões, R; Sousa, AP; Figueiroa, S; Mendonça, T; Abreu, P; Guimarães, J; Sousa, R; Melo, C; Correia, IIntroduction: Neuromyelitis optica spectrum disorder (NMOSD) is a rare disorder in which astrocyte damage and/or demyelination often cause severe neurological deficits. Objective: To identify Portuguese patients with NMOSD and assess their epidemiological/clinical characteristics. Methods: This was a nationwide multicenter study. Twenty-four Portuguese adult and 3 neuropediatric centers following NMOSD patients...
PHACTR1 genetic variability is not critical in small vessel ischemic disease pa...
Messerschmidt, C; Foddis, M; Blumenau, S; Müller, S; Bentele, K; Holtgrewe, M; Kun-Rodrigues, C; Alonso, I; Carmo Macario, M; Morgadinho, AS; Velon, AGRecently, several genome-wide association studies identified PHACTR1 as key locus for five diverse vascular disorders: coronary artery disease, migraine, fibromuscular dysplasia, cervical artery dissection and hypertension. Although these represent significant risk factors or comorbidities for ischemic stroke, PHACTR1 role in brain small vessel ischemic disease and ischemic stroke most important survival mechan...
Novel mag variant causes cerebellar ataxia with oculomotor apraxia: Molecular b...
Santos, M; Damásio, J; Kun-Rodrigues, C; Barbot, C; Sequeiros, J; Brás, J; Alonso, I; Guerreiro, RHomozygous variants in MAG, encoding myelin-associated glycoprotein (MAG), have been associated with complicated forms of hereditary spastic paraplegia (HSP). MAG is a glycoprotein member of the immunoglobulin superfamily, expressed by myelination cells. In this study, we identified a novel homozygous missense variant in MAG (c.124T>C; p.Cys42Arg) in a Portuguese family with early-onset autosomal recessive cere...
Quinze anos de ecografia intravascular coronária em intervenção coronária percu...
Guerreiro, R; Fernandes, R; Teles, R; Silva, P; Pereira, H; Ferreira, R; Costa, M; Seixo, F; Abreu, PF, et al.INTRODUCTION: Coronary intravascular ultrasound (IVUS) is increasingly important in catheterization laboratories due to its positive prognostic impact. This study aims to characterize the use of IVUS in percutaneous coronary intervention (PCI) in Portugal. METHODS: A retrospective observational study was performed based on the Portuguese Registry on Interventional Cardiology of the Portuguese Society of Cardiol...
A comprehensive screening of copy number variability in dementia with Lewy bodies
Kun-Rodrigues, C; Orme, T; Carmona, S; Hernandez, DG; Ross, OA; Eicher, JD; Shepherd, C; Parkkinen, L; Darwent, L; Heckman, MG; Scholz, SW; Troncoso, JCThe role of genetic variability in dementia with Lewy bodies (DLB) is now indisputable; however, data regarding copy number variation (CNV) in this disease has been lacking. Here, we used whole-genome genotyping of 1454 DLB cases and 1525 controls to assess copy number variability. We used 2 algorithms to confidently detect CNVs, performed a case-control association analysis, screened for candidate CNVs previou...
Adenosine Deaminase Two and Immunoglobulin M Accurately Differentiate Adult Sne...
Santo, GC; Baldeiras, I; Guerreiro, R; Ribeiro, JA; Cunha, R; Youngstein, T; Nanthapisal, S; Leitão, J; Fernandes, C; Caramelo, F; Almeida, MR; Brás, JBACKGROUND: The association that exists between livedo reticularis (LR) and stroke is known as Sneddon's syndrome (SnS). The disorder is classified as primary SnS (PSnS), if the cause remains unknown and secondary SnS. The condition is rare and it occurs mainly sporadically. In 2014, 2 independent teams described a new genetic disorder with childhood-onset, which was called deficiency of adenosine deaminase 2 (...