Browsing by Author "Ferreira, C"
Now showing 1 - 9 of 9
Results Per Page
Sort Options
- Crosstalk between genetics, gene expression and biochemical markers supports systemic iron homeostasis dysregulation in alzheimer diseasePublication . Crespo, A; Silva, B; Ferreira, C; Marquesa, L; Marcelino, E; Maruta, C; Costa, S; Timóteo, A; Vilares, A; Couto, F; Faustino, P; Correia, AP; Verdelho, A; Porto, G; Guerreiro, M; Herrero Valverde, A; Costa, C; Mendonça, A; Costa, L; Martins, M
- Diagnóstico pré-natal: anomalias fetaisPublication . Ferreira, C
- HIV-2 infection is associated with preserved GALT homeostasis and epithelial integrity despite ongoing mucosal viral replication.Publication . Fernandes, S; Pires, A; Matoso, P; Ferreira, C; Nunes-Cabaço, H; Correia, L; Valadas, E; Poças, J; Pacheco, P, et al.The mechanisms that enable preservation of gut mucosal integrity during persistent viral replication and inherent inflammation remain unclear. Here, we investigated, for the first time, gut homeostasis in HIV-2 infection, a naturally occurring form of attenuated HIV disease. We found viral replication in both sigmoid and ileum of asymptomatic HIV-2+ patients (range: 240-851 circulating CD4+T-cells per μl) despite their undetectable viremia, accompanied by interferon-γ-producing CD8 T-cell expansion, irrespective of antiretroviral treatment. Nevertheless, there was no CD4 T-cell depletion, and Foxp3+ and IL-17- or IL-22-producing CD4 T-cell numbers were unaffected. Moreover, IL-22-producing innate lymphoid cells and IL-22-induced antimicrobial peptides and mucins were maintained. In agreement, the epithelium histology was preserved, including tight junction protein zonula occludens (ZO-1) levels. Furthermore, in vitro infection of colon epithelia with primary isolates revealed no HIV-2 impact on ZO-1 expression. Notably, sigmoid transcriptional levels of CCL20 and CCL28 were significantly increased, in direct correlation with GM-CSF, indicating a local response able to enhance CD4 T-cell recruitment. In conclusion, maintenance of mucosal integrity in HIV-2 infection was associated with T-cell recruitment responses, potentially counteracting CD4 T-cell depletion due to HIV-2 replication. These data have unique implications for the design of therapies targeting gut homeostasis in HIV-1 infection and other chronic inflammatory settings.
- Impacto da terapêutica conservadora de órgão do carcinoma do pénis na função sexual e erétilPublication . Santos-Lopes, S; Ferreira, C; Morais, C; Oliveira, JPenile carcinoma is one of the less frequent tumors of the genitourinary system, however its effect on the patients' sex life and quality of life is of great impact. Studies about the influence on patients' sex life are scarce. OBJECTIVES: To characterize sexual activity with penetration of patients with penile carcinoma who underwent different conservative therapeutic approaches and to evaluate pre and post treatment erectile function. Secondarily, to compare the results between the patients who underwent partial penectomy to those subjected to other conservative therapies. MATERIAL AND METHODS: Review of patients' records diagnosed with penile carcinoma and observed at the Portuguese Institute of Oncology of Oporto between 2005 and 2015, to obtain demographic, clinical and histopathological data. Telephone interviews for the completion of the International Index of Erectile Function-5 (IIEF-5) questionnaire to patients undergoing treatment in that period. RESULTS: 16 out of the 107 patients met the inclusion criteria (n=16), with an average IIEF-5 score of 23.44 (10-25), lowering this value to 16.56 (5-25) after therapy, p<0,05. Fifteen out of the 16 patients kept sexual activity (93.8%) and one (6.25%) suspended due to erectile dysfunction. IIEF-5 score after treatment in the subgroup that underwent partial penectomy was lower when compared to the other subgroup of patients subjected to others conservative therapies, without statistical significance. CONCLUSION: Although penile carcinoma treatment has an impact in erectile function with statistical significance, the majority of patients keeps an active sexual life with penetration after treatment. It's not possible to conclude that less invasive therapies are associated with better erectile function.
- Impacto da terapêutica conservadora de orgão do carcinoma do pénis na funcão sexual e erétil.Publication . Santos-Lopes, S; Ferreira, C; Morais, A; Oliveira, JINTRODUCTION: Penile carcinoma is one of the less frequent tumors of the genitourinary system, however its effect on the patients' sex life and quality of life is of great impact. Studies about the influence on patients' sex life are scarce. OBJECTIVES: To characterize sexual activity with penetration of patients with penile carcinoma who underwent different conservative therapeutic approaches and to evaluate pre and post treatment erectile function. Secondarily, to compare the results between the patients who underwent partial penectomy to those subjected to other conservative therapies. MATERIAL AND METHODS: Review of patients' records diagnosed with penile carcinoma and observed at the Portuguese Institute of Oncology of Oporto between 2005 and 2015, to obtain demographic, clinical and histopathological data. Telephone interviews for the completion of the International Index of Erectile Function-5 (IIEF-5) questionnaire to patients undergoing treatment in that period. RESULTS: 16 out of the 107 patients met the inclusion criteria (n=16), with an average IIEF-5 score of 23.44 (10-25), lowering this value to 16.56 (5-25) after therapy, p<0,05. Fifteen out of the 16 patients kept sexual activity (93.8%) and one (6.25%) suspended due to erectile dysfunction. IIEF-5 score after treatment in the subgroup that underwent partial penectomy was lower when compared to the other subgroup of patients subjected to others conservative therapies, without statistical significance. CONCLUSION: Although penile carcinoma treatment has an impact in erectile function with statistical significance, the majority of patients keeps an active sexual life with penetration after treatment. It's not possible to conclude that less invasive therapies are associated with better erectile function.
- Kalirin: a novel genetic risk factor for ischemic strokePublication . Krug, T; Manso, H; Gouveia, L; Sobral, J; Xavier, J; Albergaria, I; Gaspar, G; Correia, M; Viana-Baptista, M; Simões, R; Pinto, A; Taipa, R; Ferreira, C; Fontes, J; Silva, M; Gabriel, J; Matos, I; Lopes, G; Ferro, J; Vicente, A; Oliveira, SCerebrovascular and cardiovascular diseases are the leading causes of death and disability worldwide. They are complex disorders resulting from the interplay of genetic and environmental factors, and may share several susceptibility genes. Several recent studies have implicated variants of the Kalirin (KALRN) gene with susceptibility to cardiovascular and metabolic phenotypes, but no studies have yet been performed in stroke patients. KALRN is involved, among others, in the inhibition of inducible nitric oxide synthase, in the regulation of ischemic signal transduction, and in neuronal morphogenesis, plasticity, and stability. The goal of the present study was to determine whether SNPs in the KALRN region on 3q13, which includes the Ropporin gene (ROPN1), predispose to ischemic stroke (IS) in a cohort of Portuguese patients and controls. We genotyped 34 tagging SNPs in the KALRN and ROPN1 chromosomal region on 565 IS patients and 517 unrelated controls, and performed genotype imputation for 405 markers on chromosome 3. We tested the single-marker association of these SNPs with IS. One SNP (rs4499545) in the ROPN1-KALRN intergenic region and two SNPs in KALRN (rs17286604 and rs11712619) showed significant (P < 0.05) allelic and genotypic (unadjusted and adjusted for hypertension, diabetes, and ever smoking) association with IS risk. Thirty-two imputed SNPs also showed an association at P < 0.05, and actual genotyping of three of these polymorphisms (rs7620580, rs6438833, and rs11712039) validated their association. Furthermore, rs11712039 was associated with IS (0.001 < P < 0.01) in a recent well-powered genomewide association study (Ikram et al. 2009). These studies suggest that variants in the KALRN gene region constitute risk factors for stroke and that KALRN may represent a common risk factor for vascular diseases.
- Mitochondrial haplogroup H1 is protective for ischemic stroke in Portuguese patients.Publication . Rosa, A; Fonseca, B; Krug, T; Manso, H; Gouveia, L; Albergaria, I; Gaspar, G; Correia, M; Viana-Baptista, M; Simões, R; Pinto, A; Taipa, R; Ferreira, C; Fontes, J; Silva, M; Gabriel, J; Matos, I; Lopes, G; Ferro, J; Vicente, A; Oliveira, SBACKGROUND: The genetic contribution to stroke is well established but it has proven difficult to identify the genes and the disease-associated alleles mediating this effect, possibly because only nuclear genes have been intensely investigated so far. Mitochondrial DNA (mtDNA) has been implicated in several disorders having stroke as one of its clinical manifestations. The aim of this case-control study was to assess the contribution of mtDNA polymorphisms and haplogroups to ischemic stroke risk. METHODS: We genotyped 19 mtDNA single nucleotide polymorphisms (SNPs) defining the major European haplogroups in 534 ischemic stroke patients and 499 controls collected in Portugal, and tested their allelic and haplogroup association with ischemic stroke risk. RESULTS: Haplogroup H1 was found to be significantly less frequent in stroke patients than in controls (OR = 0.61, 95% CI = 0.45-0.83, p = 0.001), when comparing each clade against all other haplogroups pooled together. Conversely, the pre-HV/HV and U mtDNA lineages emerge as potential genetic factors conferring risk for stroke (OR = 3.14, 95% CI = 1.41-7.01, p = 0.003, and OR = 2.87, 95% CI = 1.13-7.28, p = 0.021, respectively). SNPs m.3010G>A, m.7028C>T and m.11719G>A strongly influence ischemic stroke risk, their allelic state in haplogroup H1 corroborating its protective effect. CONCLUSION: Our data suggests that mitochondrial haplogroup H1 has an impact on ischemic stroke risk in a Portuguese sample.
- Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study-screening genetic conditions in Portuguese young stroke patientsPublication . Baptista, V; Ferreira, S; Pinho-e-Melo, T; Carvalho, M; Cruz, V; Carmona, C; Silva, F; Tuna, A; Rodrigues, M; Ferreira, C; Pinto, A; Leitão, A; Gabriel, J; Calado, S; Oliveira, J; Ferro, JBACKGROUND AND PURPOSE: Fabry disease is an X-linked monogenic disorder caused by mutations in the GLA gene. Recent data suggest that stroke in young adults may be associated with Fabry disease. We aimed to ascertain the prevalence of this disorder among young adult patients with stroke in Portugal by GLA genotyping. METHODS: During 1 year, all patients aged 18 to 55 years with first-ever stroke, who were admitted into any of 12 neurology hospital departments in Portugal, were prospectively enrolled (n=625). Ischemic stroke was classified according to Trial of Org 10172 in Acute Stroke Treatment criteria. Alpha-galactosidase activity was further assayed in all patients with GLA mutations. RESULTS: Four hundred ninety-three patients (mean age, 45.4 years; 61% male) underwent genetic analyses: 364 with ischemic stroke, 89 with intracerebral hemorrhage, 26 with subarachnoid hemorrhage, and 14 with cerebral venous thrombosis. Twelve patients had missense GLA mutations: 9 with ischemic stroke (p.R118C: n=4; p.D313Y: n=5), including 5 patients with an identified cause of stroke (cardiac embolism: n=2; small vessel disease: n=2; other cause: n=1), 2 with intracerebral hemorrhage (p.R118C: n=1; p.D313Y: n=1), and one with cerebral venous thrombosis (p.R118C: n=1). Leukocyte alpha-galactosidase activity was subnormal in the hemizygous males and subnormal or low-normal in the heterozygous females. Estimated prevalence of missense GLA mutations was 2.4% (95% CI, 1.3% to 4.1%). CONCLUSIONS: Despite a low diagnostic yield, screening for GLA mutations should probably be considered in different types of stroke. Restricting investigation to patients with cryptogenic stroke may underestimate the true prevalence of Fabry disease in young patients with stroke.
- Vascular White Matter Lesions in Young Adults: A Neurology Outpatient Clinic RegistryPublication . Viana-Baptista, M; Cruz-e-Silva, V; Caetano, A; Marto, JP; Azevedo, E; Ferreira, C; Pinto, AA, et al.Introduction: Although frequently assumed to be age-related changes, vascular white matter lesions (WML) are sometimes found in young adults. Etiology is usually attributed to sporadic small vessel disease; nevertheless, genetic disorders may also be implicated. We aimed to characterize the population of young adults with vascular WML in Neurology outpatient clinics. Methods: Neurologists from 12 Portuguese hospitals were invited to include patients aged 18-55 years evaluated in consultation, with vascular WML on MRI, scoring II or III in the Fazekas scale. Central imaging validation was performed by 2 independent, blinded, Neuroradiologists. Demographic and clinical data were collected as well as results of investigations performed. Results: During 2 years, 77 patients were included (mean age 47.7 years). Vascular risk factors were present in 88.3% patients (hypertension in 53.2%) and previous history of stroke in 36.4%. Patients without history of stroke were younger (46.6 ± 7.2 vs. 49.6 ± 3.9 years, p = 0.045) and had fewer vascular risk factors (p < 0.001). They were more frequently females (87.8 vs. 46.4%, p < 0.001), and headache (30.6 vs. 3.6%, p = 0.007), contrary to focal symptoms (16.3 vs. 53.6%, p = 0.001), was the most frequent reason of referral. Etiological investigations performed differed between Neurologists. A genetic disorder was identified in 6 out of 58 patients (CADASIL n = 5; COL4A1 n = 1). Conclusion: Young adults with vascular WML evaluated in Neurology outpatient clinics concentrate in the oldest age groups. Vascular risk factors should be screened carefully in this population. Among patients without history of stroke, females largely outweigh males. Diagnostic investigations performed do not follow a standardized protocol.