Browsing by Author "Ponce, P"
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- Alterações Hidro-Electrolíticas Induzidas por Ressecção Prostática TransuretralPublication . Ponce, P; Correia, R; Guimarães, P; Freitas, M; Barata, JD; Reis Santos, JA ressecção prostática transuretral (RTU) foi incriminada como causa de hiponatrémias graves por absorção macissa do soluto de irrigação (SI) vesical. Observámos 41 doentes submetidos a RTU, usando como SI Sorbitol Manitol (Grupo A), e 6 doentes usando água destilada (Grupo B). Um Grupo C, era constituído por 6 doentes operados por motivos não urológicos com intervenções com duração e anestesia semelhantes à RTU. Os três grupos foram estudados segundo um mesmo protocolo com colheitas de sangue antes (tempo 1), imediatamente após (tempo II) e 1 hora depois da intervenção(tempo III). A natrémia diminuiu significativamente nos 3 grupos do tempo 1 para o tempo II, em média 3,4mEq 1 com Manitol Sorbitol, 2,3mEq 1 com água destilada, e 4,4mEq 1 no grupo C. A osmolalidade não se alterou significativamente ao longo dos três tempos de colheita, o gap osmolar subiu do tempo 1 para o tempo II apenas no grupo A com Sorbitol Manitol. Em resumo, descidas moderadas no sódio sérico sem relevância clínica, e sem hipotonicidade, são frequentes post-RTU, mas não deverão ser superiores à restante cirurgia sem irrigação vesical.
- Anemia and Iron Deficiency Diagnosis, Management and Treatment in Chronic Kidney Disease - Consensus and Agreement through a Delphi PanelPublication . Ferreira, A; Farinha, A; Macedo, A; Robalo Nunes, A; Lopes, J; Branco, P; Ponce, P; Neto, RBackground: Anemia is a common complication of Chronic Kidney Disease (CKD), in which iron deficiency’s (ID) role is frequently underrated. In CKD, anemia has been associated with higher morbidity and lower quality of life. Nonetheless, reported treatment rates of anemia in CKD are low and guidelines’ variability and/or absence for its management and treatment may be preventing patients from receiving optimal treatment. Within this context, we aimed to assess the agreement level on anemia and iron deficiency diagnosis, management, and treatment in CKD patients, by Portuguese physicians in Nephrology, through a Delphi Panel. Methods: A group of seven medical experts in Nephrology and Transfusion Medicine was assembled, and a focus group was conducted, in which 28 statements were agreed upon. Then, a two-round Delphi Panel using a Likert scale was conducted online, inviting Portuguese Society of Nephrology associates to participate. Results: Answers were collected from 76 participants in Round 1 and consensus level was obtained for 1 statement, 57 (75%) respondents fully disagreeing on transfusing all patients with hemoglobin below 9 g/dl, regardless of the clinical situation. The remaining 27 statements were used in Round 2, none obtaining consensus level and 14 statements being categorized as qualified majority: 4 on diagnosis, 3 on disease management, and 7 on treatment. Discussion: Our study showed a lack of consensus on diagnosis, management, and treatment of anemia in CKD patients among the nephrology community in Portugal. Overall, our results illustrated the heterogeneity of national clinical practices in: laboratory parameters’ choice; cutoff values defining anemia and/or ID; parameter-based therapeutic decisions. Nonetheless, it was shown clear that patient’s individual characteristics, clinical settings, and the physician’s “clinical sense” seem to be considered to a further extent than the available guidelines. Future studies should be considered to develop recommendations that can be widely accepted.
- Auxiliar Informático Para o Diagnóstico e Terapêutica de Alterações do Equilíbrio Ácido-Base e Hidro-ElectrolíticoPublication . Ponce, P; Ponce, PPara encarar a detecção crescente de distúrbios do equilíbrio ácido-base e hidro-electrolítico nos nossos serviços hospitalares, descrevemos e exemplificamos um programa informático auxiliar no diagnóstico e terapêutica destes distúrbios. Partindo dos resultados dum ionograma e dos gases no sangue são apontados os síndromas presentes, e na sequência de um curto diálogo máquina/utilizador os diagnósticos etiológicos mais prováveis. 0 programa propõe também uma terapêutica concreta para esse doente e fornece referências bibliográficas. São discutidas criticamente as possíveis aplicações deste trabalho na clínica e no ensino médico.
- Collagen Type IV-Related Nephropathies in Portugal: Pathogenic COL4A5 Mutations and Clinical Characterization of 22 FamiliesPublication . Nabais Sá, MJ; Sampaio, S; Oliveira, A; Alves, S; Moura, CP; Silva, SE; Castro, R; Araújo, JA; Rodrigues, M; Neves, F; Seabra, J; Soares, C; Gaspar, MA; Tavares, I; Freitas, L; Sousa, TC; Henriques, AC; Costa, FT; Morgado, E; Sousa, FT; Sousa, JP; da Costa, AG; Filipe, R; Garrido, J; Montalban, J; Ponce, P; Alves, R; Faria, B; Carvalho, MF; Pestana, M; Carvalho, F; Oliveira, JPAlport syndrome (AS) is caused by pathogenic mutations in the genes encoding α3, α4 or α5 chains of collagen IV (COL4A3/COL4A4/COL4A5), resulting in hematuria, chronic renal failure (CRF), sensorineural hearing loss (SNHL) and ocular abnormalities. Mutations in the X-linked COL4A5 gene have been identified in 85% of the families (XLAS). In this study, 22 of 60 probands (37%) of unrelated Portuguese families, with clinical diagnosis of AS and no evidence of autosomal inheritance, had pathogenic COL4A5 mutations detected by Sanger sequencing and/or multiplex-ligation probe amplification, of which 12 (57%) are novel. Males had more severe and earlier renal and extrarenal complications, but microscopic hematuria was a constant finding irrespective of gender. Nonsense and splice site mutations, as well as small and large deletions, were associated with younger age of onset of SNHL in males, and with higher risk of CRF and SNHL in females. Pathogenic COL4A3 or COL4A4 mutations were subsequently identified in more than half of the families without a pathogenic mutation in COL4A5. The lower than expected prevalence of XLAS in Portuguese families warrants the use of next-generation sequencing for simultaneous COL4A3/COL4A4/COL4A5 analysis, as first-tier approach to the genetic diagnosis of collagen type IV-related nephropathies.
- Expert Panel Appraisal of the Treatment of Chronic Kidney Disease-Related Mineral and Bone Disorders (CKD-MBD): an Opinion-Based ApproachPublication . Adragão, T; Ferreira, A; Frazão, J; Ponce, P; Vinhas, J