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...
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...
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...
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...
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