Paulo Costa

Universidade do Porto, Instituto de Ciências Biomédicas Abel Salazar, Faculty Member

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Leticia Fogari

Janaína Câmara

salomao martim

Faculdade Estácio de Sá

Universidade de Brasília - UnB

Marta Rebelo

João Vitor Taveira

Laura Vilarinho

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Papers by Paulo Costa

Vitamina D e autoimunidade na população portuguesa

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A paramiloidose em Portugal: reflexão sobre o paradigma da transplantação hepática motivada por um caso clínico

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Vitamin D and autoimmunity in the Portuguese population

A vitamina D é única entre as vitaminas pois trata-se de uma verdadeira hormona, à qual tem sido ... more A vitamina D é única entre as vitaminas pois trata-se de uma verdadeira hormona, à qual tem sido atribuída grande importância na homeostasia do sistema imune, para lá do seu reconhecido papel no metabolismo fosfocálcico. A ampla expressão do seu recetor (VDR), e os numerosos locais de ligação deste em todo o genoma, dão suporte a essa hipótese. Alguns polimorfismos do gene do VDR têm sido associados com doenças autoimunes. Na população portuguesa, demonstramos que o polimorfismo Fok I do VDR está associado à esclerose múltipla (EM), e à gravidade da doença no lúpus eritematoso sistémico (LES). Os baixos níveis séricos de vitamina D também estão associados com um risco aumentado de desenvolver doenças autoimunes como o LES, a EM e a artrite reumatoide. A insuficiência de vitamina D é muito comum em Portugal, podendo afetar entre os 60% e os 95% da população em função da estação do ano e do índice de massa corporal. O desenvolvimento de estratégias para o rastreio da deficiência de vi...

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$Research paper thumbnail of Mesial Temporal Lobe Epilepsy (MTLE) Drug-Refractoriness Is Associated With P2X7 Receptors Overexpression in the Human Hippocampus and Temporal Neocortex and May Be Predicted by Low Circulating Levels of miR-22$

Mesial Temporal Lobe Epilepsy (MTLE) Drug-Refractoriness Is Associated With P2X7 Receptors Overexpression in the Human Hippocampus and Temporal Neocortex and May Be Predicted by Low Circulating Levels of miR-22

Frontiers in Cellular Neuroscience

Objective: ATP-gated ionotropic P2X7 receptors (P2X7R) actively participate in epilepsy and other... more Objective: ATP-gated ionotropic P2X7 receptors (P2X7R) actively participate in epilepsy and other neurological disorders. Neocortical nerve terminals of patients with Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis (MTLE-HS) express higher P2X7R amounts. Overexpression of P2X7R bolsters ATP signals during seizures resulting in glial cell activation, cytokines production, and GABAergic rundown with unrestrained glutamatergic excitation. In a mouse model of status epilepticus, increased expression of P2X7R has been associated with the down-modulation of the non-coding micro RNA, miR-22. MiR levels are stable in biological fluids and normally reflect remote tissue production making them ideal disease biomarkers. Here, we compared P2X7R and miR-22 expression in epileptic brains and in the serum of patients with MTLE-HS, respectively.Methods: Quantitative RT-PCR was used to evaluate the expression of P2X7R in the hippocampus and anterior temporal lobe of 23 patients with MTLE-HS...

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Research Article The Protective Role of HLA-DRB1∗13 in Autoimmune Diseases

Copyright © 2015 Andreia Bettencourt et al. This is an open access article distributed under the ... more Copyright © 2015 Andreia Bettencourt et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Autoimmune diseases (AIDs) are characterized by a multifactorial aetiology and a complex genetic background, with the MHC

Serum Levels of miR-146a in Patients with Psoriasis

Molecular Diagnosis & Therapy, 2021

BACKGROUND Psoriasis is an immune-mediated disease with interactions between genetic and environm... more BACKGROUND Psoriasis is an immune-mediated disease with interactions between genetic and environmental factors. An increasing number of studies are demonstrating the importance of microRNAs (miRNAs) in the pathogenesis of psoriasis. miR-146a, a dominant negative regulator of inflammation, has been consistently reported as overexpressed in the skin and peripheral blood mononuclear cells (PBMCs) of patients with psoriasis. Expression and/or function of this miRNA is highly influenced by genetic variations, some of which have already been associated with susceptibility to psoriasis. OBJECTIVE We sought to study the importance of miR-146a in patients with moderate-to-severe psoriasis and to understand the impact of rs57095329 and rs2910164 polymorphisms in a psoriatic Portuguese population. METHODS miR-146a circulating levels were quantified using molecular biology techniques in 99 patients with moderate-to-severe psoriasis (35 female, 64 male; age 47.4 ± 10.9 years) and 78 healthy individuals (52 female, 26 male; age 42.4 ± 10.1 years). miRNA expression was correlated with clinicopathological features as well as with genetic data such as the presence of human leukocyte antigen (HLA)-C*0602 allele and two miR-146a polymorphisms (rs2910164 and rs57095329). RESULTS miR-146a serum levels were 3.7-fold higher in patients with psoriasis than in controls (p < 0.0001, area under the curve [AUC] 0.75; 95% confidence interval [CI] 0.66-0.83). Of note, miR-146a circulating levels positively correlated with Psoriasis Area and Severity Index (p < 0.05) and body surface area (p < 0.05) indexes. No variations in miR-146a levels were observed with rs2910164 and rs57095329 genotypes. CONCLUSION Circulating miR-146a levels were upregulated in patients with psoriasis, especially in those with active disease. To the best of our knowledge, this is the largest study with a homogenous psoriasis population, and our data could shed light on the pathogenesis of psoriasis, paving the way for new avenues for disease treatment.

Use of MALDI-TOF Mass Spectrometry to Assay the Transthyretin V30M Mutation in Serum From a Liver Transplant Donor

Transplantation, 2015

FIGURE 1. MALDI-TOF-MS spectra of the serum samples of a liver transplant donor (A), negative (B)... more

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Liver transplantation and anemia in familial amyloidosis ATTR V30M

Amyloid, 2007

Familial amyloid polyneuropathy type I (FAP-I) is caused by a mutant transthyretin (TTR V30M) pro... more Familial amyloid polyneuropathy type I (FAP-I) is caused by a mutant transthyretin (TTR V30M) produced by liver, and orthotopic liver transplantation (OLT) is a widely accepted treatment for stopping the major production of TTR V30M. Anemia affects 24.8% of symptomatic FAP-I patients with low erythropoietin (Epo) levels, suggesting a blockage of Epoproducing cells by local or circulating factors. To evaluate the putative toxicity effect of the mutant protein on Epoproducing cells and consequent Epo production, clinical and laboratory parameters of 20 FAP patients were collected before and after liver transplantation, analyzed and compared. Following OLT, the prevalence of anemia increased, with a significant decrease in transferrin saturation, but without significant change in ferritin. Serum Epo levels remained low after OLT and the observed to expected (O/E) Epo level ratio decreased even further after OLT (O/E 5 0.8 rose to 70%). Despite the decrease in creatinine clearance (95.1 to 66.9 ml/min, p 5 0.001), a similar median O/E Epo level was observed, independently of the presence of renal failure, excluding an important impact of renal failure on Epo production. The increase of anemia after OLT and the maintenance of a defective endogenous Epo production after liver transplantation excluded an inhibitory effect of the circulating TTR V30M on the Epo-producing cells.

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Paramiloidosis in Portugal:reflection on the hepatic transplantation paradigm motivated by an actual case

A Polineuropatia Amiloidótica Familiar de tipo português (PAF) ou ATTR V30M é uma doença hereditá... more A Polineuropatia Amiloidótica Familiar de tipo português (PAF) ou ATTR V30M é uma doença hereditária cuja prevalência em Portugal é elevada, sendo diagnosticados cerca de 60 novos casos todos os anos. Uma doente com PAF submeteu-se a um segundo transplante hepático de um dador cadavérico depois de se ter constatado que o primeiro dador era portador de TTR V30M. Com este artigo breve pretende-se realizar uma reflexão sobre o interesse, a prática e o enquadramento legal que condicionam a realização de testes genéticos preditivos em dadores de fígado na transplantação de doentes com paramiloidose. A determinação da presença (ou não) de proteína mutada no soro do segundo dador foi realizada por espectrometria de massa precedida de imunoprecipitação da proteína transtirretina. A realização de testes genéticos que permitam determinar a condição de portador de TTR V30M em dadores de fígado, deveria ser considerada no quadro das políticas de transplante em Portugal.Familial Amyloidotic Poly...

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Expression of Inflammation-Associated MicroRNAs in Epilepsy

Results Table 1:Demographic and clinical characteristics of epileptic patients Sixteen MTLE-HS pa... more Results Table 1:Demographic and clinical characteristics of epileptic patients Sixteen MTLE-HS patients and 24 healthy individuals were investigated. The study was approved by the Hospital Ethical Committee and all individuals gave written informed consent in accordance with Declaration of Helsinki. Total RNA was isolated from serum using the miRNeasy Mini kit (Qiagen) and reverse-transcribed with TaqMan miRNA Reverse Transcription Kit following the manufacturer's protocol (Applied Biosystems, Inc., Foster City, CA). TaqMan miRNA assay included specific RT Primers and TaqMan Probes to quantify mature microRNAs (has-miR-146a, has-miR-155). For normalization, RNU48 (hsa-miR-RNU48) was used. Each reaction was performed in triplicate and the average Ct value was used in analysis. Relative expression values were calculated using the 2-ΔΔCt method. Differences in ΔCt were evaluated using two-tailed Student’s t-test. Analyses were done with SPSS v.22 software and significant levels wer...

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Utilidad de la caracterización genética de la narcolepsia y la hipersomnia en la definición del fenotipo: estudio en pacientes portugueses

Revista de Neurología, 2014

, et al. Usefulness of genetic characterization of narcolepsy and hypersomnia on phenotype defini... more

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Síndrome de apnea obstructiva del sueño y HLA en el norte de Portugal

Revista de Neurología, 2015

Introduction. The obstructive sleep apnoea syndrome (OSAS) is a common, complex and polygenic dis... more Introduction. The obstructive sleep apnoea syndrome (OSAS) is a common, complex and polygenic disease with diverse aetiologies interacting to produce a single phenotype. OSAS occurs throughout the entire lifespan and familial aggregation has been suggested. Several predisposing factors, as age, gender and obesity have been described. Associations between HLA polymorphisms and sleep disorders are confirmed, in European and Non-European descendent populations. However the associations found between HLA alleles and OSAS have not been consistent and have no informative value for sleep disorder classification. Aims. To explore the genetic association of HLA with OSAS in a northern Portuguese population and to evaluate the role of obesity in the context of HLA in OSAS. Patients and methods. A cohort of 131 patients with OSAS was studied. Patients followed up in an Outpatient Sleep Clinic were assessed by clinical history, night sleep polygraphic recording, multiple sleep latency test (when necessary for differential diagnosis), laboratorial and demographic studies. A control population (CP) of 223 healthy individuals was used for comparison. HLA-DRB1 genotyping was performed using a polymerase chain reaction with sequence specific primers methodology. Results. In this cohort, the HLA-DRB1*03 allele was identified as a susceptibility factor for OSAS (24% OSAS vs. 15% CP; p = 0.025; odds ratio = 1.861; 95% CI = 1.081-3.205). No significant differences were found for other HLA-DBR1* alleles. Conclusion. HLA-DRB1*03 is a susceptibility factor for OSAS in Portuguese population.

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Estrogen Metabolism-Associated CYP2D6 and IL6-174G/C Polymorphisms in Schistosoma haematobium Infection

International journal of molecular sciences, Jan 28, 2017

Schistosoma haematobium is a human blood fluke causing a chronic infection called urogenital schi... more Schistosoma haematobium is a human blood fluke causing a chronic infection called urogenital schistosomiasis. Squamous cell carcinoma of the urinary bladder (SCC) constitutes chronic sequelae of this infection, and S. haematobium infection is accounted as a risk factor for this type of cancer. This infection is considered a neglected tropical disease and is endemic in numerous countries in Africa and the Middle East. Schistosome eggs produce catechol-estrogens. These estrogenic molecules are metabolized to active quinones that induce modifications in DNA. The cytochrome P450 (CYP) enzymes are a superfamily of mono-oxygenases involved in estrogen biosynthesis and metabolism, the generation of DNA damaging procarcinogens, and the response to anti-estrogen therapies. IL6 Interleukin-6 (IL-6) is a pleiotropic cytokine expressed in various tissues. This cytokine is largely expressed in the female urogenital tract as well as reproductive organs. Very high or very low levels of IL-6 are as...

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Immunogenetic Predisposing Factors for Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis

The International journal of neuroscience, Jan 4, 2017

Neuroinflammation appears as an important epileptogenic mechanism. Experimental and clinical stud... more Neuroinflammation appears as an important epileptogenic mechanism. Experimental and clinical studies have demonstrated an upregulation of pro-inflammatory cytokines such as IL-1β and TNF-α, in Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis (MTLE-HS). Expression of these cytokines can be modulated by polymorphisms such as rs16944 and rs1800629, respectively, both of which have been associated with Febrile Seizures (FS) and MTLE-HS development. The Human Leukocyte Antigen (HLA) system has also been implicated in diverse epileptic entities suggesting a variable role of this system in epilepsy. Our aim was to analyse the association between immunogenetic factors and MTLE-HS development. For that rs16944 (-511 T>C, IL-1β), rs1800629 (-308 G>A, TNF-α) polymorphisms and HLA-DRB1 locus were genotyped in a Portuguese Population. We studied 196 MTLE-HS patients (108 females, 88 males, 44.7 ±12.0 years, age of onset = 13.6 ± 10.3 years, 104 with FS antecedents) and 282 healthy ...

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Age of onset of mesial temporal lobe epilepsy with hippocampal sclerosis: the effect of apolipoprotein E and febrile seizures

International Journal of Neuroscience, 2016

Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) is the most frequent pharmaco-... more Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) is the most frequent pharmaco-resistant epilepsy. It has been associated with febrile seizures (FS) in childhood. Its aetiology remains unclear but genetic factors are involved. Apolipoprotein E (ApoE) is the main lipoprotein secreted in brain. It has a critical immunomodulatory function, influences neurotransmission and it is involved in repairing damaged neurons. ApoE ϵ4 is an isoform of ApoE with altered protein function, previously associated with refractoriness and early onset epilepsy. This study was undertaken to determine if ApoE isoforms are risk factors for MTLE-HS and influence clinical characteristics. A group of 188 MTLE-HS patients (101 F, 87 M, mean age = 44.7 ± 11.6 years, 100 with FS antecedents) was studied and compared with a group of 342 healthy individuals in a case-control genetic association study. Data were analysed with Pearson Chi-squared Test or Student&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s t test, as appropriated. No differences in ApoE ϵ4 allelic frequencies between MTLE-HS patients and controls or between MTLE-HS subgroups were observed. Nevertheless, ApoE ϵ4 carriers had an earlier MTLE-HS onset (11.0 ± 7.9 years in ApoE ϵ4 carriers vs. 14.4 ± 11.2 years in ApoE ϵ4 non-carriers p &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.05). Additionally, we observed that MTLE-HS patients with FS antecedents had a statistically significant early disease onset (11.5 ± 8.7 years in FS(+) vs. 16.0 ± 12.1 years in FS(-), p &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.01). Our data show that ApoE ϵ4 and FS may not participate directly in etiopathogenic mechanisms of MTLE-HS but could hasten the disease development in predisposed individuals.

Vitamin D supplementation effects on FoxP3 expression in T cells and FoxP3(+)/IL-17A ratio and clinical course in systemic lupus erythematosus patients: a study in a Portuguese cohort

Immunologic research, Feb 16, 2016

Systemic lupus erythematosus (SLE) is a systemic autoimmune disease with multi-organ inflammation... more Systemic lupus erythematosus (SLE) is a systemic autoimmune disease with multi-organ inflammation, linked to loss of immune tolerance to self-antigens and the production of a diversity of autoantibodies, with a negative impact on the patients' quality of life. Regulatory T cells have been reported as deficient in number and function in SLE patients. However, some authors also described an enrichment of this cell type. The hypothesis that certain forms of autoimmunity may result from a conversion of Treg cells into a Th17 cell phenotype has been suggested by some studies. In fact, in SLE patients' sera, the IL-17 levels were observed as abnormally high when compared with healthy individuals. Environmental factors, such as vitamin D, that is considered a potential anti-inflammatory agent, combined with genetic and hormonal characteristics have been associated with SLE phenotype and with disease progression. The aim of this study was to evaluate the effect of vitamin D suppleme...

Oligomeric TTR V30M aggregates compromise cell viability, erythropoietin gene expression and promoter activity in the human hepatoma cell line Hep3B

Amyloid, 2015

Começo por agradecer aos directores das instituições de acolhimento que tornaram possível a reali... more

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HFE gene polymorphisms and severity in Portuguese patients with multiple sclerosis

European Journal of Neurology, 2010

High iron concentrations have been reported in oligodendrocytes, myelin and macrophages in multip... more High iron concentrations have been reported in oligodendrocytes, myelin and macrophages in multiple sclerosis (MS) lesions. It has been proposed that HFE gene polymorphisms could have a role in MS. The C282Y and H63D HFE variants frequencies were determined in 373 patients with MS and compared with a normal population. No significant association was found between HFE polymorphisms and disease susceptibility. An analysis of the association of genotypes with disease severity was performed, and the C282Y allele was more frequent in the aggressive group. Patients carrying the C282Y variant seem to have a worse prognosis.

Estudos Genéticos em Doentes Portugueses com Esclerose Múltipla

Acta Médica Portuguesa

A esclerose múltipla (EM) é uma doença crónica, neuroinflamatória e auto-imune que resulta de uma... more A esclerose múltipla (EM) é uma doença crónica, neuroinflamatória e auto-imune que resulta de uma interacção complexa entre factores genéticos e ambientais. Como em outras doenças complexas, com características auto-imunes, a associação genética com o complexo major de histocompatibilidade (HLA no Homem) está bem documentada. Nos últimos anos vários estudos de associação genéticos têm sido realizados em doentes portugueses com esclerose múltipla. Genes como o HLA-DRB1, HLA-A, HFE, TNFA, CTLA-4, PTPN22 e a Apolipoproteina E (ApoE) foram investigados. A ApoE, os alelos 1858T do gene do PTPN22, -318C do gene CTLA-4, -308A do gene TNFA, -1237C do gene TLR9 e os polimorfismos do gene HFE parecem não estar associados ao desenvolvimento de EM. O alelo HLA-DRB1*15 foi confirmado como o principal marcador genético de susceptibilidade à doença. Foi também observado que a presença dos alelos HLA-A*02 e TNFA-238A diminui o risco de desenvolver esclerose múltipla, e que a presença da variante C2...

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Characteristics of Neuro-Behçet's Disease in a Case-Series from a Single Centre in Northern Portugal

European Neurology, 2015

Introduction: Behçet's disease (BD) is a multisystem inflammatory disease of unknown etiology... more Introduction: Behçet's disease (BD) is a multisystem inflammatory disease of unknown etiology that may affect the CNS - Neuro-Behçet (NB). Our aim was to evaluate the frequency of neurological involvement and characterize a cohort of our NB patients. Methods: We retrospectively revised the clinical, laboratory and imaging data of a cohort of BD patients, followed in our hospital outpatient clinic. Results: We identified 138 BD patients. Twenty-five out of 138 had NB (15 female). Four patients presented with neurological symptoms. We identified a total of 37 attacks. Twenty-one attacks were classified as parenchymatous, four non-parenchymatous and 12 as other syndromes. Seventeen patients had CSF analysis performed (20 samples). Five samples were normal, 15 showed CSF pleocytosis. The most frequent finding on MRI performed in the acute phase was extensive lesions involving the brainstem. Two patients died due to the neurological involvement of BD. Conclusion: We found 18.1% preva...

Vitamina D e autoimunidade na população portuguesa

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A paramiloidose em Portugal: reflexão sobre o paradigma da transplantação hepática motivada por um caso clínico

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Vitamin D and autoimmunity in the Portuguese population

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Frontiers in Cellular Neuroscience

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Research Article The Protective Role of HLA-DRB1∗13 in Autoimmune Diseases

Serum Levels of miR-146a in Patients with Psoriasis

Molecular Diagnosis & Therapy, 2021

Use of MALDI-TOF Mass Spectrometry to Assay the Transthyretin V30M Mutation in Serum From a Liver Transplant Donor

Transplantation, 2015

FIGURE 1. MALDI-TOF-MS spectra of the serum samples of a liver transplant donor (A), negative (B)... more

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Liver transplantation and anemia in familial amyloidosis ATTR V30M

Amyloid, 2007

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Paramiloidosis in Portugal:reflection on the hepatic transplantation paradigm motivated by an actual case

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Expression of Inflammation-Associated MicroRNAs in Epilepsy

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Utilidad de la caracterización genética de la narcolepsia y la hipersomnia en la definición del fenotipo: estudio en pacientes portugueses

Revista de Neurología, 2014

, et al. Usefulness of genetic characterization of narcolepsy and hypersomnia on phenotype defini... more

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Síndrome de apnea obstructiva del sueño y HLA en el norte de Portugal

Revista de Neurología, 2015

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Estrogen Metabolism-Associated CYP2D6 and IL6-174G/C Polymorphisms in Schistosoma haematobium Infection

International journal of molecular sciences, Jan 28, 2017

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Immunogenetic Predisposing Factors for Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis

The International journal of neuroscience, Jan 4, 2017

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Age of onset of mesial temporal lobe epilepsy with hippocampal sclerosis: the effect of apolipoprotein E and febrile seizures

International Journal of Neuroscience, 2016

Vitamin D supplementation effects on FoxP3 expression in T cells and FoxP3(+)/IL-17A ratio and clinical course in systemic lupus erythematosus patients: a study in a Portuguese cohort

Immunologic research, Feb 16, 2016

Oligomeric TTR V30M aggregates compromise cell viability, erythropoietin gene expression and promoter activity in the human hepatoma cell line Hep3B

Amyloid, 2015

Começo por agradecer aos directores das instituições de acolhimento que tornaram possível a reali... more

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HFE gene polymorphisms and severity in Portuguese patients with multiple sclerosis

European Journal of Neurology, 2010

Estudos Genéticos em Doentes Portugueses com Esclerose Múltipla

Acta Médica Portuguesa

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Characteristics of Neuro-Behçet's Disease in a Case-Series from a Single Centre in Northern Portugal

European Neurology, 2015

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