Late-onset treatment in Menkes disease: is there a correlation between genotype and response to therapy?
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Adenosine Triphosphatases↗
Biomedical subjects
I Bueno
Publications and source records attributed to I Bueno.
Improved selectivity in detection of polar basic drugs by liquid chromatography-electrospray ionization mass spectrometry. Illustration using an assay method for the determination of famotidine in human plasma.
It is well to assume that bioanalytical chromatographic methods for the determination of polar basic drugs are developed and optimised according to a standardised procedure which involves two alternatives: (a) modifications in the sample preparation procedures, and (b) changes in the stationary phase of the chromatographic system. In this paper, a simple and rapid chromatographic procedure using a specific analytical detection method (ESI tandem mass spectrophotometric detection) in combination with a fast and efficient sample work-up procedure, protein precipitation, is presented. A demonstration of the entire chromatographic procedure is given for an HPLC method for the determination of famotidine in human plasma, a basic polar drug with poor solubility in organic solvents. In order to optimize the mass detection of famotidine, several parameters such as ionization mode, fragmentor voltage, m/z ratios of ions monitored, type of organic modifier and eluent additive, were investigated. Each analysis required 5 min. The calibration curve of famotidine in the range 1-200 ng/ml was linear with a correlation coefficient of 0.9992 (n = 6), and a detection limit a signal-to-noise ratio of 3 was approximately 0.2 ng/ml. The within- and between-day variations in the famotidine analysis were 5.2 (n = 6) and 6.7% (n = 18), respectively. The applicability of this method was also demonstrated for the analysis of plasma samples in a Phase-I human pharmacokinetic study.
Biological Availability↗
[Conjunctival microbiological study in corneo-schleral prosthesis users].
PURPOSE: To evaluate conjunctival bacterial flora in carrier patients of corneo-schleral prosthesis, both in the affected and fellow eye. MATERIAL AND METHOD: Samples were obtained from twenty-six corneo-schleral prosthesis carriers and smear from both eyes were cultured. Samples were taken from 24 patients as controls. RESULTS: Significant growth of potentially pathogen bacteria was observed in the corneo-schleral prosthesis and fellow eyes compared to controls. CONCLUSION: Conjunctival bacterial flora showed variations in the eyes of controls, corneo-schleral prosthesis and fellow eyes groups.
Adult↗
Eye-hand and eye-foot visual reaction times of young soccer players.
PURPOSE: The aim of this study was to investigate the eye-hand and eye-foot visual reaction time among young soccer players and to compare those with non-soccer players in order to evaluate possible differences. METHODS: A vision screening of 53 young male soccer players belonging to the Valencia Soccer Club was done. Soccer players were divided in three categories, with mean ages of 8.2 +/- 0.5 years (range, 8- to 9-year olds), 10.6 +/- 0.2 years (range, 10- to 11-year-olds), and 12.7 +/- 0.3 years (range, 12- to 13-year-olds). An age-matched sample of 60 young male non-soccer players served as a control population. Mean ages in this population were 8.3 +/- 0.6 years, 10.5 +/- 0.4 years, and 12.6 +/- 0.2 years for each category, respectively. Eye-hand and eye-foot visual reaction times were determined in players and non-players by means of a computer-controlled stimuli device. RESULTS: We obtained a mean and standard deviation value (in seconds) of eye-hand reaction time in soccer players of 0.301 +/- 0.037, 0.256 +/- 0.040, and 0.207 +/- 0.031, respectively, for each category, and for non-soccer players of 0.382 +/- 0.061, 0.320 +/- 0.063, and 0.282 +/- 0.043, respectively. The values for eye-foot reaction time in players were: 0.412 +/- 0.062, 0.406 +/- 0.046, and 0.387 +/- 0.034, respectively, for each category, and for nonplayers of 0.496 +/- 0.081, 0.460 +/- 0.026, and 0.446 +/- 0.054, respectively. There are statistically significant differences between eye-hand and eye-foot reaction times between players and nonplayers (p < 0.05). There was no correlation between visual reaction times and age (p > 0.05). CONCLUSIONS: Eye-hand and eye-foot visual reaction times were found to be different between the two populations evaluated. The results show differences between soccer and non-soccer players, with the soccer players demonstrating faster reaction times.
Adolescent↗
Congenital hemihypertrophy.
We present an isolated complete left hemihypertrophy in a girl with follow-up data from birth up to the age of 5 months.
Anthropometry↗
[Terminal partial mosaic monosomy of the short arm of chromosome 3, in discordant monozygotic twins, 46,XY/46,XY, del (3) (p25)].
A 22 months old male child, a second monozygotic twin with distal partial monosomy of the short arm of chromosome 3 in mosaicism and anomalies in dermatoglyphics is described. Patient presents retardation of intrauterine and postnatal growth, psychomotor retardation, microcephalia, mongoloid deviation of palpebral clefts, macroglossia with constant sucking, congenital cardiopathy cryptorchism, hypospadias and generalized hypertonia. Twin is a normal infant with normal karyotype. Genotypic similarity and clinical picture is discussed.
Chromosome Banding↗