Rodrigo Neto - Academia.edu (original) (raw)

Papers by Rodrigo Neto

Research paper thumbnail of Exon 7 Nco l Restriction Site within CYP21B (Steroid 21-Hydroxylase) Is a Normal Polymorphism

Molecular Endocrinology, 1990

A point mutation within exon 7 producing an amino acid coding change and a recognition site for t... more A point mutation within exon 7 producing an amino acid coding change and a recognition site for the endonuclease A/col has been reported in the HLA-Bw47-linked CYP21A pseudogene and some mutant CYP21B (steroid 21-hydroxylase) genes of patients with congenital adrenal hyperplasia (CAH). Whether this mutation is deleterious was not demonstrated. We analyzed DNA from various subjects for the presence of the exon 7 A/col site: group 1,10 normal subjects; group 2, 11 patients with salt-losing CAH; and group 3, 18 members of an Amish pedigree in which 10 expressed HLA-Bw47 not linked to CAH. Southern blots of A/col-digested genomic DNA which were hybridized with CYP21 cDNA showed that four subjects of group 1 had a heterozygous A/col pattern. In group 2, seven patients had the A/col site; two of them were homozygous for the site and had deletions of both CYP21B genes. The other five were heterozygous for the A/col site, which was linked to a CYP21B deletion and a HLA-Bw47 haplotype. In group 3, no one exhibited the exon 7 A/col site. To map the A/col sites to CYP21A or CYP21B in the normal subjects, DNA from the four A/col heterozygous subjects was double digested with A/col and Mbo\ and hybridized with CYP21 cDNA. Nco\-Mbo\ fragments unique to CYP21A were identified in all four, but the smaller CYP2IB-specific fragments were not detected. Their genomic DNA in the region of exon 7 (bases +1167 to +2058) was then amplified, cloned, and sequenced. Clones that contained both the A/col site and a CYP2IB-specific S/nl fragment were identified in two of the four subjects. Sequence analysis further confirmed them as CYP21B clones. We conclude that the exon 7 A/col site is a normal polymorphism, but that it is also linked to the HLA-Bw47 haplotype in CAH patients but not to that in normal (Amish) subjects. (Molecular Endocrinology 4: 1354-1362,1990) INTRODUCTION Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a relatively common inborn error

Research paper thumbnail of Oxygen Uptake and ß-Carotene Decoloration in a Dehydrated Food Model

Journal of Food Science, 1981

Oxygen uptake of a model system containing p-carotene was measured by a method capable of determi... more Oxygen uptake of a model system containing p-carotene was measured by a method capable of determining headspace oxygen and entrapped oxygen, both at low concentrations. @Carotene was determined calorimetrically at 460 nm. A fist-order mechanism was found for this reaction with respect to,&carotene concentration as measured by color. The values of the rate constants were functions of the oxygen concentrations in the headspace of samples; they increased as these concentrations increased. Up to seven molecules of oxygen were consumed as each molecule of p-carotene was discolored. This bigh oxygen consumption was not related to the oxidized products. A mathematical model was developed, based on the experimental data, to predict p-caotene deeoloration by measuring oxygen uptake or to determine oxygen uptake from decoloration. A computer program was developed to make these predictions. Samples with known histories had linear correlations between oxygen uptake and p-carotene decoloration. The results for 1% and 2% headspace oxygen concentrations agreed with experimental values, presenting a standard deviation compatible with the experimental methods used. An important corollary is the suitability of a simple calorimetric test for monitoring oxygen uptake in a dehydrated system.

Research paper thumbnail of Percutaneous Treatment of Thrombosed Arteriovenous Fistulas

Clinical Journal of the American Society of Nephrology, 2010

Background and objectives: Maintenance of previously thrombosed arteriovenous fistulas (AVFs) as ... more Background and objectives: Maintenance of previously thrombosed arteriovenous fistulas (AVFs) as functional vascular accesses can be highly expensive, with relevant financial implications for healthcare systems. The aim of our study was to evaluate the costs and health outcomes of vascular access care in hemodialysis patients with AVF thrombosis. Design, setting, participants, & measurements: A retrospective, controlled cohort study was performed among local hemodialysis patients with completely thrombosed AVFs between August 1, 2007, and July 1, 2008. Detailed clinical and demographic information was collected and a comprehensive measure of total vascular access costs was obtained. Costs are reported in 2009 U.S. dollars. Results: A total of 63 consecutive hemodialysis patients with thrombosed AVFs were identified-a cohort of 37 patients treated with percutaneous thrombectomy and a historic cohort of 25 patients with abandoned thrombosed AVFs. The mean cost of all vascular access care at 6 months was $2479. Salvage of thrombosed AVFs led to a near twofold reduction in access-related expenses, per patient-month at risk

Research paper thumbnail of Exon 7 Nco l Restriction Site within CYP21B (Steroid 21-Hydroxylase) Is a Normal Polymorphism

Molecular Endocrinology, 1990

A point mutation within exon 7 producing an amino acid coding change and a recognition site for t... more A point mutation within exon 7 producing an amino acid coding change and a recognition site for the endonuclease A/col has been reported in the HLA-Bw47-linked CYP21A pseudogene and some mutant CYP21B (steroid 21-hydroxylase) genes of patients with congenital adrenal hyperplasia (CAH). Whether this mutation is deleterious was not demonstrated. We analyzed DNA from various subjects for the presence of the exon 7 A/col site: group 1,10 normal subjects; group 2, 11 patients with salt-losing CAH; and group 3, 18 members of an Amish pedigree in which 10 expressed HLA-Bw47 not linked to CAH. Southern blots of A/col-digested genomic DNA which were hybridized with CYP21 cDNA showed that four subjects of group 1 had a heterozygous A/col pattern. In group 2, seven patients had the A/col site; two of them were homozygous for the site and had deletions of both CYP21B genes. The other five were heterozygous for the A/col site, which was linked to a CYP21B deletion and a HLA-Bw47 haplotype. In group 3, no one exhibited the exon 7 A/col site. To map the A/col sites to CYP21A or CYP21B in the normal subjects, DNA from the four A/col heterozygous subjects was double digested with A/col and Mbo\ and hybridized with CYP21 cDNA. Nco\-Mbo\ fragments unique to CYP21A were identified in all four, but the smaller CYP2IB-specific fragments were not detected. Their genomic DNA in the region of exon 7 (bases +1167 to +2058) was then amplified, cloned, and sequenced. Clones that contained both the A/col site and a CYP2IB-specific S/nl fragment were identified in two of the four subjects. Sequence analysis further confirmed them as CYP21B clones. We conclude that the exon 7 A/col site is a normal polymorphism, but that it is also linked to the HLA-Bw47 haplotype in CAH patients but not to that in normal (Amish) subjects. (Molecular Endocrinology 4: 1354-1362,1990) INTRODUCTION Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a relatively common inborn error

Research paper thumbnail of Oxygen Uptake and ß-Carotene Decoloration in a Dehydrated Food Model

Journal of Food Science, 1981

Oxygen uptake of a model system containing p-carotene was measured by a method capable of determi... more Oxygen uptake of a model system containing p-carotene was measured by a method capable of determining headspace oxygen and entrapped oxygen, both at low concentrations. @Carotene was determined calorimetrically at 460 nm. A fist-order mechanism was found for this reaction with respect to,&carotene concentration as measured by color. The values of the rate constants were functions of the oxygen concentrations in the headspace of samples; they increased as these concentrations increased. Up to seven molecules of oxygen were consumed as each molecule of p-carotene was discolored. This bigh oxygen consumption was not related to the oxidized products. A mathematical model was developed, based on the experimental data, to predict p-caotene deeoloration by measuring oxygen uptake or to determine oxygen uptake from decoloration. A computer program was developed to make these predictions. Samples with known histories had linear correlations between oxygen uptake and p-carotene decoloration. The results for 1% and 2% headspace oxygen concentrations agreed with experimental values, presenting a standard deviation compatible with the experimental methods used. An important corollary is the suitability of a simple calorimetric test for monitoring oxygen uptake in a dehydrated system.

Research paper thumbnail of Percutaneous Treatment of Thrombosed Arteriovenous Fistulas

Clinical Journal of the American Society of Nephrology, 2010

Background and objectives: Maintenance of previously thrombosed arteriovenous fistulas (AVFs) as ... more Background and objectives: Maintenance of previously thrombosed arteriovenous fistulas (AVFs) as functional vascular accesses can be highly expensive, with relevant financial implications for healthcare systems. The aim of our study was to evaluate the costs and health outcomes of vascular access care in hemodialysis patients with AVF thrombosis. Design, setting, participants, & measurements: A retrospective, controlled cohort study was performed among local hemodialysis patients with completely thrombosed AVFs between August 1, 2007, and July 1, 2008. Detailed clinical and demographic information was collected and a comprehensive measure of total vascular access costs was obtained. Costs are reported in 2009 U.S. dollars. Results: A total of 63 consecutive hemodialysis patients with thrombosed AVFs were identified-a cohort of 37 patients treated with percutaneous thrombectomy and a historic cohort of 25 patients with abandoned thrombosed AVFs. The mean cost of all vascular access care at 6 months was $2479. Salvage of thrombosed AVFs led to a near twofold reduction in access-related expenses, per patient-month at risk