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Biomedical subjects

R Cabanas

Publications and source records attributed to R Cabanas.

9 recordsLinked to original sources
PubMed1996

Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation.

To study the severity of mutation G85E, located in the first membrane spanning domain of the CFTR gene, we studied the clinical features of 13 Spanish patients with cystic fibrosis (CF) carrying this mutation. G85E accounts for about 1% of Spanish CF alleles. One patient was homozygous G85E/G85E and the rest were compound heterozygotes for G85E and other mutations (delta F508 nine patients, delta I507 two patients, and 712-1G > T one patient). The characteristics of the pooled G85E/any mutation group were compared with those of 30 delta F508 homozygotes. Mean age at diagnosis and percentage of ideal height for age were higher in the G85E/any mutation group (4.2 (SD 4.7) v 2.4 (SD 2.3), p < 0.05, and 102.8 (SD 4.7) v 97.8 (SD 4.1), p < 0.01), both probably related to the greater prevalence of pancreatic sufficiency (70% v 0%, p < 0.01). The G85E homozygote was pancreatic sufficient. Sweat sodium levels were slightly higher, and salt loss related problems more frequent, in the G85E/any group. Two of the G85E patients died of respiratory failure aged 6 and 14 years. Striking discordance in the phenotype was observed in two pairs of sibs, one of them dizygotic twins, suggesting that factors, genetic and environmental, other than CFTR genotype are important in determining CF phenotype.

Child↗
PubMed1982

[C-reactive protein. Value in diagnosis of infectious complications of hydrocephalus children with shunt (author's transl)].

The C-reactive protein, leukocytes count and erythrocyte sedimentation rate, were determined in 32 hydrocephalus children treated with shunt, on the 1st day, 5th day and 10th day postintervention. C-reactive protein was positive on the 5th day postintervention in the 66.6% of the patients with infection and the 100% of these patients on the 10th day. In three patients C-reactive protein was the first sign of infection. In 33.3% of the patients with infectious complications, C-reactive protein positive was earlier than leukocytes and erythrocyte sedimentation rate abnormalities. From these findings, authors suggest C-reactive protein as valuable test in the postoperative control of the hydrocephalus children and should alert to the possibility of a infectious complication.

Blood Sedimentation↗
PubMed1982

[Determination of the mean dose of oral theophylline in asthmatic children (author's transl)].

The oral dosage of theophylline was adjusted in order to maintain a serum level between 10 and 20 micrograms/ml. in a group of 53 children whose ages were less tha nine years. A plan of regular increments with a maximal dosage reduced to 18.5 mg./kg./day was followed, with advantageous results. The necessary medium dosage was 18.4 +/- 2.7 mg./kg./day. This dosage didn't have statistically significant difference with that obtained previously by us (18.4 +/- 4.0) in a group of 46 children of comparable age but, by contrast, it had a statistically significant difference when compared with the dosage (24.1 +/- 5.5) obtained by another medical teams working with american children of similar age. After a fruitless search of known causes that could explain these differences, we think in the possibility of genetical and/or unknown environmental influences.

Administration, Oral↗
PubMed1981

[Individualization of the dosage of oral theophylline with regular increase method and serum level control in 55 asthmatic children (author's transl)].

Authors have adjusted oral theophylline requirements in 55 asthmatic children, whose ages ranged from 19 months to 14 years, following a preconceived plan. The procedure is practical and useful. It's easily understood by parents and realizable in an ambulatory way. The average necessities of oral theophylline in children under nine years in their group have been lower than those signaled by other authors. This and the fact that oral requirements of theophylline in two pair of univitelin twins were identical, make the authors think that it is necessary probably to modificate protocols previously proposed for the different groups of population.

Administration, Oral↗