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Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations...

Sá, MJ; Storey, H; Flinter, F; Nagel, M; Sampaio, S; Castro, R; Araújo, JA; Gaspar, MA; Soares, C; Oliveira, A; Henriques, AC; Costa, AG; Abreu, CP

Pathogenic mutations in genes COL4A3/COL4A4 are responsible for autosomal Alport syndrome (AS) and thin basement membrane nephropathy (TBMN). We used Sanger sequencing to analyze all exons and splice site regions of COL4A3/COL4A4, in 40 unrelated Portuguese probands with clinical suspicion of AS/TBMN. To assess genotype-phenotype correlations, we compared clinically relevant phenotypes/outcomes between homozygo...



Treatment of paraquat poisoning. Plasmapheresis versus hemodialysis.

Ponce, P; Lobos, A V; Bordalo, J; Moreira, J

Data: 1986   |   Origem: Acta Médica Portuguesa





Hospital prevalence of kidney failure. Consequences and reflections for the pla...

Ponce, P; Grupo Cooperativo Nefrológico da Peninsula de Setúbal.; Vinhas, J; Silva, J; Vaz, A; Oliveira, C; Carvalho, I; Paula, A; Ramos, A

A prospective prevalence study of Renal Failure (RF) in inhospital patients (creatinine > = 1.7 mg/dl) was carried out during March 1994, in two hospitals covering well defined and mutually exclusive populations. Cases were selected by screening all urea and creatinine blood tests performed in both laboratories, and registered in an individual form for daily follow-up of their nephrologic outcome. We registered...

Data: 1970   |   Origem: Acta Médica Portuguesa

A diaphragmatic pacemaker in the treatment of ventilatory failure.

Ponce, P; Hospital CUF, Lisboa.; Cruz, J; Travassos, J; Moreira, P; Lima, J A; Pedro, A G; Ferreira, A C; Antunes, J L

Diaphragmatic Pacing was used to treat ventilatory failure in a young boy with bilateral diaphragmatic palsy secondary to cervical cord injury, on chronic mechanical ventilation for 6 months. The indications for diaphragmatic pacing in ventilatory failure were discussed, as well as the assessment of phrenic nerve integrity and the pacing schedules utilized to slowly improve the diaphragm endurance and achieve a...

Data: 1970   |   Origem: Acta Médica Portuguesa

Consequences of the correction of post-transplantation hypophosphatemia on mine...

Ponce, P; Serviço de Nefrologia, Hospital de S. Cruz. Carnaxide.; Gusmão, L; Adragão, T; Bruges, M; Gomes, E M; Antunes, J

To study the effect of the correction of post-transplantation Hypophosphatemia on mineral metabolism.15 patients with renal transplants for 3 to 12 months, Serum Creatinine "177 micmol/1, were treated with oral phosphorus (P) for persistent hypophosphatemia.3 periods of blood and urine collection at intervals of 3 weeks. T1 under basal treatment with oral P, T2 after 3 weeks off medication with P, Ca, or P bind...

Data: 1970   |   Origem: Acta Médica Portuguesa

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Fundação para a Ciência e a Tecnologia Universidade do Minho   Governo Português Ministério da Educação e Ciência Programa Operacional da Sociedade do Conhecimento União Europeia