Browsing by Author "Miranda, V."
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- Acidúria Metilmalónica com Homocistinúria, tipo Cobalamina C: Fenótipo oftalmológicoPublication . Figueiredo, A.; Macedo, M.; Miranda, V.; Parreira, R.; Gonçalves, S.; Menéres, P.
- Anterior Chamber Flare as an Objective and Quantitative Noninvasive Method for Oculopathy in Transthyretin V30M Amyloidosis PatientsPublication . Beirão, J.; Miranda, V.; Pinheiro-Torres, B.; Coelho, J.; Menéres, M.; Menéres, P.Purpose. Assess the aqueous humor flare in transthyretin V30M amyloidosis patients (ATTRV30M). Materials and Methods. This is a retrospective, cross-sectional, noninterventional comparative study including 28 ATTRV30M patients with a unilateral scalloped iris. For comparative analysis, the fellow eye, the nonscalloped iris eye, from each patient was used as control. All patients underwent aqueous humor flare meter and intraocular pressure (IOP) measurements. Results. Mean aqueous humor flare was significantly higher in the eyes with the scalloped iris than the control group with the nonscalloped iris (14.1 ± 2.2 versus 6.5 ± 0.9 pc/ms, respectively). No significant differences in IOP were found in the scalloped iris eyes than those in the nonscalloped iris control group (17.1 ± 0.8 versus 16.8 ± 0.7 mmHg, respectively). No significant correlation was not found between the flare and the IOP value within groups. Conclusions. In this study, aqueous humor flare values in the scalloped iris eyes may be a valid marker for controlling the stage of the oculopathy in ATTRV30M patients.
- Effect of Aging in the Perception of Health-Related Quality of Life in End-Stage Renal Disease Patients under Online-HemodiafiltrationPublication . Moura, A.; Madureira, J.; Alija, P.; Fernandes, J.; Oliveira, .; 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.
- Effect of Aging in the Perception of Health-Related Quality of Life in End-Stage Renal Disease Patients under Online-HemodiafiltrationPublication . 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.
- Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid LevelsPublication . Sá, M.; Rocha, J.; Almeida, M.; Carmona, C.; Martins, E.; Miranda, V.; Coutinho, M.; Ferreira, R.; Pacheco, S.; Laranjeira, F.; Ribeiro, I.; Fortuna, A.; Lacerda, L.Infantile Refsum disease (IRD) is one of the less severe of Zellweger spectrum disorders (ZSDs), a group of peroxisomal biogenesis disorders resulting from a generalized peroxisomal function impairment. Increased plasma levels of very long chain fatty acids (VLCFA) and phytanic acid are biomarkers used in IRD diagnosis. Furthermore, an increased plasma level of phytanic acid is known to be associated with neurologic damage. Treatment of IRD is symptomatic and multidisciplinary.The authors report a 3-year-old child, born from consanguineous parents, who presented with developmental delay, retinitis pigmentosa, sensorineural deafness and craniofacial dysmorphisms. While the relative level of plasma C26:0 was slightly increased, other VLCFA were normal. Thus, a detailed characterization of the phenotype was essential to point to a ZSD. Repeatedly increased levels of plasma VLCFA, along with phytanic acid and pristanic acid, deficient dihydroxyacetone phosphate acyltransferase activity in fibroblasts and identification of the homozygous pathogenic mutation c.2528G>A (p.Gly843Asp) in the PEX1 gene, confirmed this diagnosis. Nutritional advice and follow-up was proposed aiming phytanic acid dietary intake reduction. During dietary treatment, plasma levels of phytanic acid decreased to normal, and the patient's development evaluation showed slow progressive acquisition of new competences.This case report highlights the relevance of considering a ZSD in any child with developmental delay who manifests hearing and visual impairment and of performing a systematic biochemical investigation, when plasma VLCFA are mildly increased. During dietary intervention, a biochemical improvement was observed, and the long-term clinical effect of this approach needs to be evaluated.
- Potential cardiovascular risk protection of bilirubin in end-stage renal disease patients under hemodialysisPublication . Sameiro-Faria, M.; Kohlova, M.; Ribeiro, S.; Rocha-Pereira, P.; Teixeira, L.; Nascimento, H.; Reis, F.; Miranda, V.; Bronze-da-Rocha, E.; Quintanilha, A.; Belo, L.; Costa, E.; Santos-Silva, A.We evaluated the potential cardiovascular risk protection of bilirubin in hemodialysis (HD) patients. An enlarged set of studies were evaluated in 191 HD patients, including hematological study, lipid profile, iron metabolism, nutritional, inflammatory markers, and dialysis adequacy. The TA duplication screening in the UDP-glucuronosyltransferase 1 A1 (UGT1A1) promoter region was also performed. The UGT1A1 genotype frequencies in HD patients were 49.2%, 42.4%, and 8.4% for 6/6, 6/7, and 7/7 genotypes, respectively. Although no difference was found in UGT1A1 genotype distribution between the three tertiles of bilirubin, significant differences were found with increasing bilirubin levels, namely, a decrease in platelet, leukocyte, and lymphocyte counts, transferrin, oxidized low-density lipoprotein (ox-LDL), ox-LDL/low-density lipoprotein cholesterol ratio, apolipoprotein (Apo) A, Apo B, and interleukin-6 serum levels and a significant increased concentration of hemoglobin, hematocrit, erythrocyte count, iron, transferrin saturation, Apo A/Apo B ratio, adiponectin, and paraoxonase 1 serum levels. After adjustment for age these results remained significant. Our data suggest that higher bilirubin levels are associated with beneficial effects in HD patients, by improving lipid profile and reducing the inflammatory grade, which might contribute to increase in iron availability. These results suggest a potential cardiovascular risk protection of bilirubin in HD patients
- Terapêutica biológica na Artrite Idiopática Juvenil (AIJ) – experiência do Centro Hospitalar PortoPublication . Nascimento, J.; Zilhão, C.; Sousa, H.; Miranda, V.; Marinho, A.; Vasconcelos, C.; Guedes, M.Introdução: A terapêutica com agentes biológicos contribuiu para a melhoria da qualidade de vida dos doentes com AIJ grave. No entanto, a sua utilização tem potenciais riscos aliada a custo económicos elevados, o que conduziu à elaboração de recomendações (Sociedade Portuguesa Reumatologia), para a seleção e monitorização dos doentes. Objetivo: Avaliar a eficácia e segurança da terapêutica biológica nos doentes com AIJ, seguidos na Unidade Reumatologia Pediátrica do CHP. Material/Métodos: Estudo transversal dos doentes com AIJ que efetuaram biológicos e cujos registos foram inseridos no Reuma.pt, com análise do tipo AIJ, agente(s) biológico(s) administrado(s), efeitos adversos e custos económicos associados. A evolução clínica, analítica e funcional foi avaliada num subgrupo com 36 meses de terapêutica através da escala visual analógica (EVA:0-100), Child Health Assessment Questionnaire (CHAQ:0-3), nº articulações ativas e velocidade de sedimentação. Resultados: De um total de 97 doentes com AIJ, 38,1% (n=37) efetuaram terapêutica biológica. A idade média no início da doença foi de 7,9 ±4,5anos, no diagnóstico 8,6 ±4,8anos e no início do 1º biológico 10,9 ±4,4anos. Os subtipos de AIJ mais frequentes, foram a AIJ poliarticular FR e a AIJ entesite, com 21,6% (n=8), cada tipo. Foi diagnosticada uveíte em 32,4% (n=12), tendo sido, determinante, para o início ou switch do agente biológico em 5 casos. Dos doentes expostos a este tipo de terapêutica, 78,4% (n=29) foram medicados com etanercept; 16,2% (n=6) infliximab; 13,5% (n=5) adalimumab; 13,5% (n=5) tocilizumab e 2,7%(n=1) anakinra, com média de exposição de 3 ±2,6 anos (mín:0,1/máx:12). Ocorreram 8 eventos adversos não graves e 2 doentes suspenderam temporariamente a terapêutica. O custo económico mensal estimado, por doente, para cada biológico é: 464€ - etanercept; 448€ - infliximab; 994€ - adalimumab; 335€ - tocilizumab; 870€ - anakinra. No início da terapêutica biológica, o valor médio de EVA era 55,1 ±19,3; o CHAQ 1,1 ±0,6; o número médio de articulações ativas era 5,3 ±2,6 e o valor médio de VS 36,8 ±23,3mm/h. Aos 36 meses de terapêutica biológica, o valor médio de EVA era 17,5 ±20,1; o CHAQ 0,3 ±0,4; o número médio de articulações ativas era 1,8 ±3,8 e o valor médio de VS 15,8 ±15,7mm/h. Conclusão: Os critérios da SPR para a administração de terapêutica biológica são adequados na seleção e monitorização destes doentes. Nesta amostra, a terapêutica demonstrou ser eficaz e segura. Apesar dos custos elevados inerentes, a sua introdução precoce teve um impacto fundamental na melhoria da qualidade de vida e redução da morbilidade associada à doença.