Browsing by Author "Gomes, A."
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- Biomarkers and Imaging Findings of Anderson-Fabry Disease-What We Know NowPublication . Beirão, I.; Cabrita, A.; Torres, M.; Silva, F.; Aguiar, P.; Laranjeira, F.; Gomes, A.Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder, caused by deficiency or absence of the alpha-galactosidase A activity, with a consequent glycosphingolipid accumulation. Biomarkers and imaging findings may be useful for diagnosis, identification of an organ involvement, therapy monitoring and prognosis. The aim of this article is to review the current available literature on biomarkers and imaging findings of AFD patients. An extensive bibliographic review from PubMed, Medline and Clinical Key databases was performed by a group of experts from nephrology, neurology, genetics, cardiology and internal medicine, aiming for consensus. Lyso-GB3 is a valuable biomarker to establish the diagnosis. Proteinuria and creatinine are the most valuable to detect renal damage. Troponin I and high-sensitivity assays for cardiac troponin T can identify patients with cardiac lesions, but new techniques of cardiac imaging are essential to detect incipient damage. Specific cerebrovascular imaging findings are present in AFD patients. Techniques as metabolomics and proteomics have been developed in order to find an AFD fingerprint. Lyso-GB3 is important for evaluating the pathogenic mutations and monitoring the response to treatment. Many biomarkers can detect renal, cardiac and cerebrovascular involvement, but none of these have proved to be important to monitoring the response to treatment. Imaging features are preferred in order to find cardiac and cerebrovascular compromise in AFD patients.
- Deciphering the Contribution of Biofilm to the Pathogenesis of Peritoneal Dialysis Infections: Characterization and Microbial Behaviour on Dialysis FluidsPublication . Sampaio, J.; Machado, D.; Gomes, A.; Machado, I.; Santos, C.; Lima, N.; Carvalho, M.; Cabrita, A.; Rodrigues, A.; Martins, M.Infections are major complications in peritoneal dialysis (PD) with a multifactorial etiology that comprises patient, microbial and dialytic factors. This study aimed at investigating the contribution of microbial biofilms on PD catheters to recalcitrant infections and their interplay with PD related-factors. A prospective observational study was performed on 47 patients attending Centro Hospitalar of Porto and Vila Nova de Gaia/Espinho to whom the catheter was removed due to infectious (n = 16) and non-infectious causes (n = 31). Microbial density on the catheter was assessed by culture methods and the isolated microorganisms identified by matrix-assisted laser desorption/ionization time-of-flight intact cell mass spectrometry. The effect of conventional and three biocompatible PD solutions on 16 Coagulase Negative Staphylococci (CNS) and 10 Pseudomonas aeruginosa strains planktonic growth and biofilm formation was evaluated. Cultures were positive in 87.5% of the catheters removed due infectious and 90.3% removed due to non-infectious causes. However, microbial yields were higher on the cuffs of catheters removed due to infection vs. non-infection. Staphylococci (CNS and Staphylococcus aureus) and P. aeruginosa were the predominant species: 32% and 20% in the infection and 43.3% and 22.7% in the non-infection group, respectively. In general, PD solutions had a detrimental effect on planktonic CNS and P. aeruginosa strains growth. All strains formed biofilms in the presence of PD solutions. The solutions had a more detrimental effect on P. aeruginosa than CNS strains. No major differences were observed between conventional and biocompatible solutions, although in icodextrin solution biofilm biomass was lower than in bicarbonate/lactate solution. Overall, we show that microbial biofilm is universal in PD catheters with the subclinical menace of Staphylococci and P. aeruginosa. Cuffs colonization may significantly contribute to infection. PD solutions differentially impact microbial species. This knowledge is important for the development of infection diagnosis, treatment and preventive strategies.
- Hidropisia Fetal Patologia do Passado, Presente e… Futuro? Estudo RetrospectivoPublication . Cálix, M.J.; Neves, J.; Pinto, R.; João, A.; Torres, J.; Mateus, M.; Gomes, A.RESUMO Introdução: A hidropisia fetal define-se por uma acumulação anormal de fluído intersticial no feto. Descrita inicialmente como uma entidade patológica única, Ballantyne em 1892 levantou a hipótese de representar um estado final comum a uma variedade de processos patológicos diferentes. Potter distingue 2 tipos: imune (mais frequente na era prévia à utilização da RhoGAM) e não imune (implicada actualmente em cerca de 90% dos casos). Apesar de todos os avanços de diagnóstico, a hidropisia fetal continua a ser uma entidade desafiante na medicina perinatal. O objectivo deste estudo foi analisar os casos de hidropisia fetal numa Unidade de Cuidados Intensivos Neonatais (UCIN), para avaliação de etiologia, morbilidade e mortalidade. Pacientes e métodos: Os autores apresentam cinco casos de hidropisia fetal tratados numa Unidade de Cuidados Intensivos Neonatais entre Setembro de 2005 a Janeiro de 2009, ilustrativos de diferentes etiologias. O estudo baseou-se na análise retrospectiva dos processos das mães e recém-nascidos, com avaliação dos dados obstétricos e neonatais. Resultados: De Setembro de 2005 a Janeiro de 2009 foram internados na Unidade 1923 recém-nascidos dos quais cinco com diagnóstico de hidropisia fetal. Destes, três casos foram de causa não imune (fibromatose generalizada congénita; diabetes materna e cardiomiopatia dilatada; quilotórax congénito), um caso por iso-imunização Rh e o outro de causa idiopática. Só um dos casos tinha diagnóstico pré-natal. A mortalidade na nossa série foi de 40%. Conclusão: Apesar da melhoria no diagnóstico e abordagem terapêutica, a elevada taxa de morbilidade e mortalidade permanece, sendo de extrema importância o diagnóstico pré-natal precoce. Este permite determinar a etiologia, antecipar problemas, tomar decisões clínicas de acordo com o prognóstico esperado e também o aconselhamento genético/ DPN. Uma boa coordenação multidisciplinar, envolvendo neonatologistas, obstetras e patologistas é essencial.
- Infectious risk of elderly patients on peritoneal dialysis: Experience of a portuguese centerPublication . Belino, C.; Barreto, P.; Santos, M.; Gomes, A.; Fonseca, Isabel; Fernandes, J.Background: The goal of this study was to compare the risk of peritoneal dialysis‑related infections in younger and older patients and to identify risk factors for infection in elderly patients. Methods: We performed a longitudinal retrospective study on a population of Portuguese peritoneal dialysis patients treated at the same center between January 2005 and December 2015. Clinical and laboratory data were collected from medical reports. Two groups of patients were compared: non elderly (< 65 years) and elderly (≥ 65 years). Results: Among 100 patients, there were 73 non elderly (median age 52 years) and 27 elderly (median age 74 years). Elderly patients were not associated with higher PD‑infection rates or with less time to PD‑related infections. Cerebrovascular disease was the only significant adverse predictor of peritonitis in elderly (crude HR 3.8; 95% CI 1.10 to 13.34; P = 0.035) and those with higher levels of serum albumin were less likely to develop peritonitis (crude HR 0.47 per each g/dl of increase; 95% CI 0.24 to 0.89; P = 0.023). Conclusions: In our study, elderly patients did not present a greater risk for peritonitis or catheter‑related infections.
- [Is it Fabry Disease? Diagnostic and Follow-Up Approach]Publication . Beirao, I.; Cabrita, A.; Torres, M.; Silva, F.; Aguiar, P.; Gomes, A.
- Pulmonary hypertension: Real-world data from a Portuguese expert referral centrePublication . Gomes, A.; Cruz, C.; Rocha, J.; Ricardo, M.; Vicente, M.; Melo, A.; Santos, M.; Carvalho, L.; Gonçalves, F.; Reis, A.Pulmonary hypertension (PH) is a heterogeneous, debilitating condition with highly relevant impact on functional capacity, quality of life, and life-expectancy.