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Browsing by Author "Oliveira, J."

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  • ABCESSOS PULMONARES: REVISÃO DE 60 CASOS
    Publication . Magalhães, L.; Valadares, D.; Oliveira, J.; Reis, E.
    2009Journal article Open access Show more
  • Advanced Glycation End Products Evolution after Pancreas-Kidney Transplantation: Plasmatic and Cutaneous Assessments
    Publication . Martins, L.; Oliveira, J.; Vizcaíno, J.; Fonseca, R.; Gouveia, C.; Silva, D.; Castro-Henriques, A.; Noronha, I.; Rodrigues, A.
    Diabetes mellitus leads to increased Advanced Glycation End Products (AGE) production, which has been associated with secondary diabetic complications. Type 1 diabetic patients undergoing pancreas-kidney transplantation (SPKT) can restore normoglycemia and renal function, eventually decreasing AGE accumulation. We aimed to prospectively study AGE evolution after SPKT. Circulating AGE were assessed in 20 patients, at time 0 (T0), 3 months (T3), 6 months (T6), and 12 months (T12) after successful SPKT. Global AGE and carboxymethyllysine (CML) were analyzed, as well as advanced oxidation protein products (AOPP). Skin biopsies were obtained at T0 and T12. Immunohistochemistry with anti-AGE antibody evaluated skin AGE deposition. AGE mean values were 16.8 ± 6.4 μg/mL at T0; 17.1 ± 3.8 μg/mL at T3; 17.5 ± 5.6 μg/mL at T6; and 16.0 ± 5.2 μg/mL at T12. CML mean values were 0.94 ± 0.36 ng/mL at T0; 1.11 ± 0.48 ng/mL at T3; 0.99 ± 0.42 ng/mL at T6; and 0.78 ± 0.38 ng/mL at T12. AOPP mean values were 130.1 ± 76.8 μMol/L at T0; 137.3 ± 110.6 μMol/L at T3; 116.4 ± 51.2 μMol/L at T6; and 106.4 ± 57.9 μMol/L at T12. CML variation was significant (P = 0.022); AOPP variation was nearly significant (P = 0.076). Skin biopsies evolved mostly from a cytoplasmic diffuse to a peripheral interkeratinocytic immunoreaction pattern; in 7 cases, a reduction in AGE immunoreaction intensity was evident at T12. In conclusion, glycoxidation markers decrease, plasmatic and on tissues, may start early after SPKT. Studies with prolonged follow-up may confirm these data.
    2016Journal article Open access Show more
  • Advances in the genotyping of thrombosis genetic risk factors: clinical and laboratory implications.
    Publication . Cabeda, J.; Pereira, M.; Oliveira, J.; Estevinho, A.; Pereira, I.; Morais, S.; Justiça, B.; Campos, M.
    Since FV-Leiden polymorphism was first described in 1994, a growing number of polymorphic loci have been identified in association with increased genetic risk for thrombophilia. Often however, these risk factors have been studied in isolation of the remaining known phenotype linked polymorphisms. This fact has, at least in part, been justified by the laborious techniques traditionally used in the genotyping studies, as well as its relatively high costs. Another major problem concerning these studies has been the non-negligible incidence of dubious genotypes, resulting from the manual, labour intensive techniques applied, and their sometimes difficult to read output's. These difficulties have also hampered the widespread use of genotyping data in the clinical assessment of the genetic risk levels both in patients and their relatives, leaving some clinicians less than convinced about its clinical usefulness. Recently however, the introduction of new genetic techniques in the clinical genetics laboratory has started to change this picture. Most notably, the advent of Real-time-PCR has brought the possibility of genotyping patients and controls at a large scale, with increased specificity, automation and speed. Moreover, the use of these techniques in the clinical genetics setting has not only increased the quality of the results, but most importantly has also increased our capability of answering questions at a deeper level. Among the new questions that can now be answered without increased costs and uncertainty is the study of the association of genetic risk factors in thrombophilia. Our results show that indeed even common polymorphic loci may increase our ability to further discriminate the genetic thrombosis risk of individual patients and relatives. It must however be noted that the innovation level in the clinical genetics lab is just starting to grow. In fact we haven't even started to experience the advantages brought about by the genome program, and its massive identification of SNP's. The technology to test these is also presently being refined, and is expected to go from research to the clinical lab in the near future. Only then, can we expect to define with high certainty the combined genetic risks for such complex pathologies as the thrombophilias.
    2002Journal article Open access Show more
  • Aqueous humor erythropoietin levels in open-angle glaucoma patients with and without TTR V30M familial amyloid polyneuropathy
    Publication . Beirão, João; Moreira, L.; Oliveira, J.; Menéres, M.; Pessoa, Bernardete; Matos, M.; Costa, P.; Torres, P.; Beirão, I.
    Purpose: Glaucoma is the leading cause of irreversible blindness in familial amyloidotic polyneuropathy (FAP) patients. Erythropoietin (EPO) is a cytokine that has been shown to play a role in neuroprotection and is endogenously produced in the eye. EPO levels in the aqueous humor are increased in eyes with glaucoma. In this study, we evaluated the EPO concentration in the aqueous humor of FAP and non-FAP patients, with and without glaucoma. Methods: Undiluted aqueous humor samples were obtained from 42 eyes that underwent glaucoma surgery, phacoemulsification, or vitrectomy. EPO concentration in the aqueous humor and blood were measured using the Immulite 2000 Xpi using an automatic analyzer (Siemens Healthcare Diagnostics). Results: The mean EPO concentration in the aqueous humor of non-FAP glaucoma eyes group 2 (75.73±13.25 mU/ml) was significantly higher than non-FAP cataract eyes (17.22±5.33 mU/ml; p<0.001), FAP glaucoma eyes (18.82±10.16 mU/ml; p<0.001), and FAP nonglaucoma eyes (20.62±6.22 mU/ml; p<0.001). There was no statistically significant difference between FAP nonglaucoma eyes versus non-FAP cataract eyes (p = 0.23) and FAP glaucoma eyes versus FAP nonglaucoma eyes (p = 0.29). In the glaucoma groups, there was no correlation between the aqueous humor EPO concentration and the ocular pressure (p = 0.95) and mean deviation (p = 0.41). There was no correlation between the EPO serum concentration and EPO aqueous humor concentration in our patients (p = 0.77). Conclusions: Unlike other glaucomatous patients, FAP patients with glaucoma do not show increased and potentially neuroprotective endocular EPO production in the aqueous humor and may need more aggressive glaucoma management.
    2014Journal article Open access Show more
  • AVALIAÇÃO DOS SISTEMAS DE VIGILÂNCIA EPIDEMIOLÓGICA CENTRADA NO LABORATÓRIO - ANÁLISE DOS ÚLTIMOS QUATRO ANOS
    Publication . Aires, E.; Fernandes, A.; Rodrigues, P.; Santos, C.; Calado, E.; Aragão, I.; Marques, L.; Palma, L.; Lopes, L.; Polónia, J.; Oliveira, J.; Vasconcelos, C.
    AVALIAÇÃO DOS SISTEMAS DE VIGILÂNCIA EPIDEMIOLÓGICA CENTRADA NO LABORATÓRIO - ANÁLISE DOS ÚLTIMOS QUATRO ANOS Ernestina Aires1, Alexandra Fernandes1, Paula Rodrigues1, Cláudia Santos1,2, Elsa Calado1,2, Irene Aragão1, 3, Laura Marques1, 4, Lígia Palma1, 5, Luísa Lopes1, 5, José Polónia1, 6, Júlio Oliveira1, 7, Carlos Vasconcelos1, 8 1Comissão de Controlo da Infecção (CCI), HSA/CHP; 2Serviço de Microbiologia, HSA/CHP; 3Unidade de Cuidados Intensivos Polivalentes (UCIP), HSA/CHP;4Serviço de Pediatria Médica, HMP/CHP; 5Serviço de Neonatologia, MJD/CHP; 6 Serviço de Cirurgia/Unidade 2, HSA/CHP; 7 Serviço de Medicina A, HSA/CHP; 8Serviço de Imunologia Clinica, HSA/CHP Hospital de Santo António, Centro Hospitalar do Porto (HSA/CHP), Porto. Hospital Maria Pia, Centro Hospitalar do Porto (HMP/CHP), Porto. Maternidade Júlio Dinis, Centro Hospitalar do Porto (MJD/CHP), Porto. Introdução A vigilância epidemiológica é a monitorização de todos os aspectos da ocorrência e da propagação da doença que são pertinentes para o seu controlo efectivo. Implica colheita contínua, análise e interpretação dos dados, bem como a divulgação dos mesmos. Os objectivos da VE passam pelo reconhecimento atempado de surtos infecciosos, identificação de doentes infectados/colonizados, implementação de medidas de controlo de infecção adequadas a cada situação, avaliação da eficiência das medidas preventivas e produção de relatórios de acção pela comissão de controlo de infecção. Objectivos O objectivo deste estudo é analisar a incidência de infecção no Hospital Geral de Santo António (HSA), baseado num programa de VE com a finalidade de conhecer a incidência da infecção e promover a utilização dos dados locais na implementação de medidas de controlo de infecção. Material e Métodos Análise dos dados fornecidos pelo laboratório de microbiologia, através da aplicação informática “Vigi@ct”, que disponibiliza à Comissão de Controlo de Infecção os resultados microbiológicos dos produtos biológicos colhidos aos doentes internados no HSA, no período de 2007 a 2010. Resultados As infecções hospitalares têm decrescido. Verifica-se uma diminuição de 5,9 em 2007 para 4,9 infecções por 1000 dias de internamento em 2010. As Infecções do Trato Urinário são as mais frequentes, seguindo-se as Respiratórias. As Infecções da Corrente Sanguínea ocupam o terceiro lugar da tabela e a Infecção do Local Cirúrgico a quarta posição. Os serviços clínicos são envolvidos para discussão dos casos e decisão das medidas de controlo aplicáveis. É uma articulação dinâmica entre os profissionais dos serviços e a CCI, que permite obter resultados positivos no combate à Infecção Nosocomial, e consequente diminuição da incidência das Infecções Associadas aos Cuidados de Saúde. Discussão e Conclusões Os factores que influenciam o desenvolvimento de infecção nosocomial são geralmente a patogenicidade do microrganismo, os factores ambientais, a susceptibilidade do doente e a resistência bacteriana. Globalmente verifica-se que os internamentos têm aumentado, mantendo-se a demora média em cerca de 6 dias. O número de infecções tem reduzido progressivamente. Os microrganismos mais frequentemente identificados foram a Escherichia coli (988 isolados) e a Pseudomonas aeruginosa (778 isolados), seguidas do MRSA com 555 casos isolados. A avaliação dos sistemas de vigilância epidemiológica visa promover a melhor utilização dos recursos do sistema de saúde. Proporciona dados úteis relativamente às tendências das infecções e à eficácia das medidas de controlo de infecção recomendadas pela CCI e implementadas pelos profissionais de saúde. Apresentador: Ernestina Aires, Enfermeira, Comissão de Controlo da Infecção, HSA/CHP; Aluna de Mestrado em Infecções Associadas aos Cuidados de Saúde ECS/UCP.
    2011-07-01Conference object Open access Show more
  • Clinical and Genetic Analysis of Children with Kartagener Syndrome
    Publication . Pereira, R.; Barbosa, T.; Gales, L.; Oliveira, E.; Santos, R.; Oliveira, J.; Sousa, M.
    Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia causing ineffective mucus clearance and organ laterality defects. In this study, two unrelated Portuguese children with strong PCD suspicion underwent extensive clinical and genetic assessments by whole-exome sequencing (WES), as well as ultrastructural analysis of cilia by transmission electron microscopy (TEM) to identify their genetic etiology. These analyses confirmed the diagnostic of Kartagener syndrome (KS) (PCD with situs inversus). Patient-1 showed a predominance of the absence of the inner dynein arms with two disease-causing variants in the CCDC40 gene. Patient-2 showed the absence of both dynein arms and WES disclosed two novel high impact variants in the DNAH5 gene and two missense variants in the DNAH7 gene, all possibly deleterious. Moreover, in Patient-2, functional data revealed a reduction of gene expression and protein mislocalization in both genes' products. Our work calls the researcher's attention to the complexity of the PCD and to the possibility of gene interactions modelling the PCD phenotype. Further, it is demonstrated that even for well-known PCD genes, novel pathogenic variants could have importance for a PCD/KS diagnosis, reinforcing the difficulty of providing genetic counselling and prenatal diagnosis to families.
    2019-08-15Journal article Open access Show more
  • Effect of Aging in the Perception of Health-Related Quality of Life in End-Stage Renal Disease Patients under Online-Hemodiafiltration
    Publication . Moura, A.; Madureira, J.; Alija, P.; Fernandes, J.; Oliveira, J.; Lopez, M.; Filgueiras, M.; Amado, L.; Sameiro-Faria, M.; Miranda, V.; Santos-Silva, A.; Costa, E.
    This work aimed to evaluate how aging could influence patients’ perception of health quality of life (HRQOL), as well as, the effect of aging on dialysis adequacy and in hematological, iron status, inflammatory and nutritional markers. In this transversal study were enrolled 305 ESRD patients under Online-hemodiafiltration (OL-HDF) (59.67% males; 64.9 ± 14.3 years old). Data about comorbidities, hematological data, iron status, dialysis adequacy, nutritional and inflammatory markers were collected from patient’s records. Moreover, HRQOL score, by using the Kidney Disease Quality of Life-Short Form (KDQOL-SF), was assessed. Analyzing the results according to quartiles of age, significant differences were found for some parameters evaluated by the KDQOL-SF instrument, namely for work status, physical functioning and role-physical, which decreased with increasing age. We also found a higher proportion of diabetic patients, a decrease in creatinine, iron, albumin serum levels, transferrin saturation and nPCR, with increasing age. Moreover, significant negative correlations were found between age and mean cell hemoglobin concentration, iron, transferrin saturation, albumin, nPCR, work status, physical functioning and role-physical. In conclusion, our results showed that aging is associated with a decreased work status, physical functioning and role-physical, with a decreased dialysis adequacy, iron availability and nutritional status, and with an increased proportion of diabetic patients and of patients using central venous catheter, as the vascular access. The knowledge of these changes associated with aging, which have impact in the quality of life of the patients, could be useful in their management.
    2014Journal article Open access Show more
  • Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene
    Publication . Gonçalves, A.; Oliveira, J.; Coelho, T.; Taipa, R.; Melo-Pires, M.; Sousa, M.; Santos, R.
    A broad mutational spectrum in the dystrophin (DMD) gene, from large deletions/duplications to point mutations, causes Duchenne/Becker muscular dystrophy (D/BMD). Comprehensive genotyping is particularly relevant considering the mutation-centered therapies for dystrophinopathies. We report the genetic characterization of a patient with disease onset at age 13 years, elevated creatine kinase levels and reduced dystrophin labeling, where multiplex-ligation probe amplification (MLPA) and genomic sequencing failed to detect pathogenic variants. Bioinformatic, transcriptomic (real time PCR, RT-PCR), and genomic approaches (Southern blot, long-range PCR, and single molecule real-time sequencing) were used to characterize the mutation. An aberrant transcript was identified, containing a 103-nucleotide insertion between exons 51 and 52, with no similarity with the DMD gene. This corresponded to the partial exonization of a long interspersed nuclear element (LINE-1), disrupting the open reading frame. Further characterization identified a complete LINE-1 (~6 kb with typical hallmarks) deeply inserted in intron 51. Haplotyping and segregation analysis demonstrated that the mutation had a de novo origin. Besides underscoring the importance of mRNA studies in genetically unsolved cases, this is the first report of a disease-causing fully intronic LINE-1 element in DMD, adding to the diversity of mutational events that give rise to D/BMD.
    2017-10-03Journal article Open access Show more
  • Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database
    Publication . Oliveira, J.; Oliveira, M.; Kress, W.; Taipa, R.; Melo-Pires, M.; Hilbert, P.; Baxter, P.; Santos, M.; Buermans, H.; den Dunnen, J.; Santos, R.
    Myotubular myopathy (MIM#310400), the X-linked form of Centronuclear myopathy (CNM) is mainly characterized by neonatal hypotonia and inability to maintain unassisted respiration. The MTM1 gene, responsible for this disease, encodes myotubularin - a lipidic phosphatase involved in vesicle trafficking regulation and maturation. Recently, it was shown that myotubularin interacts with desmin, being a major regulator of intermediate filaments. We report the development of a locus-specific database for MTM1 using the Leiden Open Variation database software (http://www.lovd.nl/MTM1), with data collated for 474 mutations identified in 472 patients (by June 2012). Among the entries are a total of 25 new mutations, including a large deletion encompassing introns 2-15. During database implementation it was noticed that no large duplications had been reported. We tested a group of eight uncharacterized CNM patients for this specific type of mutation, by multiple ligation-dependent probe amplification (MLPA) analysis. A large duplication spanning exons 1-5 was identified in a boy with a mild phenotype, with results pointing toward possible somatic mosaicism. Further characterization revealed that this duplication causes an in-frame deletion at the mRNA level (r.343_444del). Results obtained with a next generation sequencing approach suggested that the duplication extends into the neighboring MAMLD1 gene and subsequent cDNA analysis detected the presence of a MTM1/MAMLD1 fusion transcript. A complex rearrangement involving the duplication of exon 10 has since been reported, with detection also enabled by MLPA analysis. It is thus conceivable that large duplications in MTM1 may account for a number of CNM cases that have remained genetically unresolved.
    2013Journal article Open access Show more
  • Extensive colectomy in colorectal cancer and hereditary nonpolyposis colorectal cancer – long-term results
    Publication . Santos, Marisa D.; Silva, C.; Oliveira, J.; Brandão, P.; Sampaio, M.; Silva, A.; Rocha, A.; Matos, E.; Marcos-Pinto, R.
    Background: Colorectal cancer survival is better in hereditary nonpolyposis colorectal cancer patients than in sporadic colorectal cancer patients and even for hereditary nonpolyposis colorectal cancer with colorectal cancer is not consensual that extensive colectomy is preferable to partial colectomy. This study analyzes and compares the long-term results of these two groups of patients submitted to curative subtotal colectomy or total colectomy. Methods: Between 2002 and 2018, 68 patients with colorectal cancer without familial adenomatous polyposis were submitted to a total or subtotal colectomy in a single tertiary center. The patients were divided in two groups: hereditary nonpolyposis colorectal cancer patients (with Amsterdam criteria) and sporadic colorectal cancer patients (the others). The presence of Amsterdam criteria for hereditary nonpolyposis colorectal cancer and germline mutation for mismatch repair genes was confirmed by clinical records. Results and survival were analyzed following surgery. Results: We obtained a sporadic colorectal cancer group with 31 patients and a hereditary nonpolyposis colorectal cancer group with 37 patients. The two groups differ in age but not in gender, tumor stage or surgical morbidity. The overall survival and disease-free survival were good in both groups but even better for hereditary nonpolyposis colorectal cancer group with statistical significance when comparing the two groups. Conclusion: Total or subtotal colectomy for colorectal cancer provides a good survival. These surgical procedures should be considered the first option for colorectal cancer in young hereditary non polyposis colorectal cancer patients. In those cases, they provide good long-term results, avoiding the risk of metachronous colorectal cancer and the surveillance is restricted only to the remaining need for rectum.
    2019Journal article Open access Show more