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C Zapata

Publications and source records attributed to C Zapata.

At least 19 recordsLinked to original sources
PubMed2006

[Reference values for the vestibulo-ocular reflex response to the head shaking and the bithermal caloric tests].

OBJECTIVE: To obtain reference values for the vestibulo-ocular reflex response to the head-shaking nystagmus and the bithermal caloric test in the spanish population. PATIENTS AND METHODS DESIGN: A descriptive study. SET UP: General hospital. INDIVIDUALS: One hundred and seven healthy sex and age stratified voluntiers were included. The final sample included 97 individuals over 18 years of age. INTERVENTION: Spontaneous nystagmus (SN), head-shaking nystagmus (HSN) and caloric induced nystagmus were explored. The eyes movement was recorded by a video-oculographic system. The SN or HSN was considered significant when at least 6 consecutive beats with a slow phase velocity of 2 degrees/sec were detected. The caloric test was performed with water flow at 250mL/20 s at 30 degrees C and 44 degrees C with an interval of 10 minutes between irrigations. The percentage of canal paresis (CP) and directional preponderance (DP) was calculated using maximum slow phase velocity and the Jongkees index formula. MAIN OUTCOME MEASUREMENTS: Presence of SN, horizontal and vertical SHN, percentage of CP and DP. RESULTS: SN was found in 10,3% individuals (6 women and 4 men). Horizontal HSN was also observed in 9 women and 10 men (19,5%), and vertical HSN in 8 women and 10 men (18,6%). The mean and 95 percentil for CP were 13,10 and 28,60 in women and 11,02 and 27,30 in men. For DP, the mean and 95 percentil were 11,76 and 35,80 in women and 11,58 and 28,65 in men. The 5 percentils for slow phase velocity of nystagmus after each irrigation were 6,30; 5,14; 5,96; 4,02 degrees/s (left ear 44 degrees, right ear 44 degrees, left ear 30 degrees, right ear 30 degrees, respectively) in the group of women; and 5,82; 6,99; 5,67; 4,55 degrees/s in men (with the same irrigation sequence). CONCLUSION: Results presented should be considered as a population-based norms and may be useful as references for water bithermal test for VOG studies. The SN or HSN could be observed in subjects without vestibular pathology.

Adolescent↗
PubMed2006

[Oculomotor response to the vertical cephalic autorotatory test in patients with benign paroxistic positional vertigo of the posterior canal].

OBJECTIVE: To evaluate the eye movement response to the head auto-rotation test (HART) in the vertical plane in patients with benign paroxysmal positional vertigo. PATIENTS AND METHODS DESIGN: A transversal, descriptive study. SETTING UP: Outpatient clinic in a general Hospital. INDIVIDUALS: 34 posterior canal BPPV cases with a video-oculographic diagnosis, older than 18 years old, 7 of them were not able to perform the HART. INTERVENTION: HART was performed by a an electrooculographic system with simultaneous recording of head movement by an acelerometer in the vertical plane (Vorteq, Micromedical Instruments). The HART with eyes fixation was performed 3 times to determine its reliability. MAIN OUTCOME MEASURES: Gain, asymmetry and phase for the vertical VOR respectively. A statistical analysis was carried out to determine the test reliability and the number of individuals with an abnormal result. RESULTS: Gain is the only variable that showed a reproducible result in the HART for the active head movement at 1-2 Hz (test-retest reliability 0.83-0.89). The values of gain showed a moderate correlation at the frequencies 1-3 Hz (correlation 0.60-0.87). Asymmetry and phase were not reproducible variables (correlation < 0.55). Thirteen of 27 (48%) patients presented a decrease of the vertical gain, another 13 showed normal values and one case showed raised values. CONCLUSION: Gain is the only useful variable in the vertical HART. Forty-eight percent of patients with posterior canal BPPV have a reduced vertical gain, suggesting an impairment of inferior vestibular nerve function.

Adult↗
PubMed2001

Detection of errors in dinucleotide repeat typing by nondenaturing electrophoresis.

This study shows that consideration of minor bands (heteroduplex, shadow, and faint bands) associated with allele bands in nondenaturing polyacrylamide gel electrophoresis (PAGE) after polymerase chain reaction (PCR) is effective for detecting PCR processing errors that lead to mistyping of heterozygotes as homozygotes. Notably, we show that minor bands in native gels are highly effective for detecting allele dropout and preferential amplification in PCR amplification of dinucleotide repeats. These findings are based on an analysis of Mendelian inheritance patterns in families, and the reproduction of heterozygous band patterns by mixing homozygous DNAs before PCR, for a total of six (AC)n repeats located on human chromosome 11p15. To investigate the utility of our approach, a large population sample of 405 unrelated individuals was genotyped for each (AC)n repeat using minor bands as internal quality controls. Genotype frequencies at each of the six loci were in close agreement with Hardy-Weinberg proportions, which suggests that there were few genotyping errors. Our observations add to the evidence indicating that minor bands in native gels are of diagnostic value in the genotyping of dinucleotide repeats.

Acrylic Resins↗
PubMed2001

Sampling variance and distribution of the D' measure of overall gametic disequilibrium between multiallelic loci.

The development of the theory of estimation of gametic disequilibrium for multiallelic systems is particularly necessary, since a large number of the genetic markers available at present are highly polymorphic multiallelic systems. The D' coefficient is one of the most commonly used measures of the extent of overall disequilibrium between all possible pairs of alleles at two multiallelic loci. Nevertheless, the sampling properties of this measure of overall disequilibrium, are to date, unknown. In this work, we have derived explicit expressions by large-sample theory to compute the approximate sampling variance of Dhat' between pairs of multiallelic loci, when samples of haplotypes are taken from populations. Formulae for calculating the asymptotic sampling variance were checked by Monte Carlo simulation. In addition, the magnitude of the sampling variance of Dhat' was investigated under different scenarios of disequilibrium between multiallelic loci. Extensive simulations were also carried out for describing the sampling distribution of Dhat', conditioned on the sample size, number of alleles and their frequencies, and disequilibrium components. It was found that the sampling distribution of Dhat' generally approaches well the theoretical normal distribution for experimental sample sizes, particularly when loci have many alleles. Disequilibrium data between microsatellite loci of human chromosome 11p are used for illustration. These investigations increase substantially our knowledge about this widely used measure of overall disequilibrium, which is relevant to evaluate disequilibrium between multiallelic loci in populations.

Alleles↗
PubMed2001

Spectrum of nonrandom associations between microsatellite loci on human chromosome 11p15.

Most evidence about nonrandom association of alleles at different loci, or gametic disequilibrium, across extensive anonymous regions of the human genome is based on the analysis of overall disequilibrium between pairs of microsatellites. However, analysis of interallelic associations is also necessary for a more complete description of disequilibrium. Here, we report a study characterizing the frequency and strength of both overall and interallelic disequilibrium between pairs of 12 microsatellite loci (CA repeats) spanning 19 cM (14 Mb) on human chromosome 11p15, in a large sample (810 haplotypes deduced from 405 individuals) drawn from a single population. Characterization of disequilibrium was carried out, taking into account the sign of the observed disequilibria. This strategy facilitates detection of associations and gives more accurate estimates of their intensities. Our results demonstrate that the incidence of disequilibrium over an extensive human chromosomal region is much greater than is commonly considered for populations that have expanded in size. In total, 44% of the pairs of microsatellite loci and 18% of the pairs of alleles showed significant nonrandom association. All the loci were involved in disequilibrium, although both the frequency and strength of interallelic disequilibrium were distributed nonuniformly along 11p15. These findings are especially relevant since significant associations were detected between loci separated by as much as 17-19 cM (7 cM on average). It was also found that the overall disequilibrium masks complicated patterns of association between pairs of alleles, dependent on their frequency and size. We suggest that the complex mutational dynamics at microsatellite loci could explain the allele-dependent disequilibrium patterns. These observations are also relevant to evaluation of the usefulness of microsatellite markers for fine-scale localization of disease genes.

Base Sequence↗
PubMed2000

A long-term study on seasonal changes of gametic disequilibrium between allozymes and inversions in Drosophila subobscura.

Seasonal variation (spring, early summer, late summer, and autumn) of gametic disequilibrium between gene arrangements (OST and O3+4) of the O chromosome and Lap, Pept-1, and Acph allozyme loci, located inside these inversions, has been recorded in a natural population of Drosophila subobscura during seven years over a 15-year period. The length of the study allowed us to investigate the temporal variation of the allozyme-inversion associations by statistical methods of time series analysis. Cyclic seasonal changes of allozyme-inversion associations for both Lap and Pept-1 are detected in the natural population. In both cases, the patterns of seasonal change are due to the seasonal change of frequency of Lap and Pept-1 allozymes occurring exclusively within the OST gene arrangement. In contrast, the allozyme frequencies at these loci within the O3+4 gene arrangement are stable along seasons. The patterns of temporal variation of allozyme-inversion associations for Lap and Pept-1 in the natural population are contrasted with those previously published that correspond to gene arrangements of the O chromosome and nucleotide polymorphism at the rp49 region located inside these inversions, suggesting that natural selection is operating on these allozyme-inversion associations.

Acid Phosphatase↗
PubMed2000

The D' measure of overall gametic disequilibrium between pairs of multiallelic loci.

The D' coefficient is one of the most commonly used measures of the extent of gametic disequilibrium between multiallelic loci. It has been suggested that the range of the D' measure of overall disequilibrium between pairs of multiallelic loci depends on allele frequencies, except under some very restricted conditions. Nevertheless, the problem of dependence of the range of D' has not been characterized under a wide set of possible polymorphisms. Evaluation of the utility of D' as a measure of the strength of overall disequilibrium between all possible pairs of alleles at two multiallelic loci requires better knowledge of its range than is currently available. In this work, the conditions of polymorphism under which the range of D' is frequency independent are given. It is found that the range of D' is more often independent of allelic frequencies than is commonly thought. Furthermore, the range of D' undergoes only small fluctuations as a function of the polymorphisms at the loci. Numerical cases and microsatellite data from humans are used for illustration. These observations indicate that the D' coefficient is a useful tool for the estimation and comparison of the extent of overall disequilibrium across pairs of multiallelic loci.

Alleles↗
PubMed1998

[Comparison of low-molecular-weight heparin and unfractionated heparin in the treatment of unstable angina].

BACKGROUND: Low molecular weight heparin can be administered by the subcutaneous route and has a stable and prolonged antithrombotic effect. These features have prompted clinical essays about its use as an alternative to unfractionated heparin in the treatment of unstable angina. AIM: To compare the clinical effects of low molecular weight heparin and unfractionated conventional heparin in patients with unstable angina or non Q infarction. PATIENTS AND METHODS: Seventy patients (47 male) admitted to the hospital with the diagnosis of unstable angina or non Q acute myocardial infarction were randomly assigned to receive unfractionated intravenous heparin or subcutaneous low molecular weight heparin bid. All received aspirin p.o. and i.v. nitroglycerin. The incidence of recurrent angina, acute myocardial infarction or a need for emergency surgical revascularization during hospital stay were assessed in both groups. RESULTS: Compared to patients with low molecular weight heparin, patients receiving unfractionated heparin had a higher incidence of recurrent resting angina (23 and 47.5% respectively, p < 0.04) and higher need for emergency surgical revascularization (3.3 and 17.5% respectively, p < 0.06). Patients treated with unfractionated conventional heparin had a 3 times higher risk of having an adverse cardiovascular event than patients receiving low molecular weight heparin (O.R. 0.33, confidence intervals 0.11-0.58). CONCLUSIONS: Low molecular weight heparin is superior to unfractionated conventional heparin in the treatment of unstable angina and non Q acute myocardial infarction.

Adult↗
PubMed1997

A study of genetic association between manic-depressive illness and a highly polymorphic marker from the GABRbeta-1 gene.

We report on an association study between a tetranucleotide repeat polymorphism in the GABR beta1 gene and manic-depressive illness in a Spanish population. This gene may be an important candidate for bipolar affective disorders since severe GABergic alterations have been described in patients. Although our results do not reveal a clear evidence for association between manic-depressive illness and GABR beta1, we have found significant differences between patients and controls in the female subpopulation.

Alleles↗
PubMed1997

On Fisher's exact test for detecting gametic disequilibrium between DNA polymorphisms.

Nonrandom associations between DNA polymorphisms are commonly tested by Fisher's exact test in spite of it is seriously conservative. Theoretical statistical studies have shown that the exact test with Tocher's correction does not present this problem but Tocher's correction is never used by experimentalists for detecting gametic associations. We have examined the practical consequences of using these two alternative tests for the detection of nonrandom associations in populations. A total of 1566 pairs of RFLPs of eleven gene regions and sixteen populations from previously published human and Drosophila disequilibrium data were examined. The analysis reveals remarkable differences between the two tests for detecting gametic associations. In some gene regions, the exact test with Tocher's correction detects a percentage of significant associations between RFLPS which is twice or three times higher than that detected by the exact test without correction. Therefore, the widely used exact test can be seriously underestimating disequilibrium in populations. In addition, the study shows that the standard chi-square test for independence in 2 x 2 tables detects a similar percentage of significant associations between RFLPs than Tocher's test.

Animals↗
PubMed1997

Conditions for protected inversion polymorphism under supergene selection.

Conditions for protected inversion polymorphism under the operation of both karyotype and supergene selection in a viability model have been analytically determined. When supergene selection (the effect of recombination in homokaryotypes lowering the mean fitness of their offspring) is acting on gene arrangements and there is no karyotype selection, it is demonstrated that a polymorphic stable equilibrium is reached by the population, which is a function of only the recombination effects in homokaryotypes. Under both supergene and karyotype selection the degree of dominance (h) of karyotype selection is critical to produce a protected inversion polymorphism. In general, the opportunity for protected polymorphism increases as the degree of dominance decreases. For small s values, the conditions for protected polymorphism are r > 2sh and c > 2s(h-1), where r and c are the average loss of viability for offspring of ST/ST and IN/IN homokaryotypes, respectively. These findings suggest that supergene selection may be an important balancing mechanism contributing to the maintenance of inversion polymorphism.

Chromosome Inversion↗
PubMed1996

Dynamics of gametic disequilibria between loci linked to chromosome inversions: the recombination-redistributing effect of inversions.

The total gametic disequilibrium between two loci linked to polymorphic inversions can be partitioned into two types of components: within and between chromosome arrangements. The within components depend on the gametic disequilibrium within each chromosome arrangement. The between components depend on the locus-inversion disequilibria. This partitioning has practical applications and is indispensable for studying the dynamics of these systems because inversions greatly reduce recombination in the heterokaryotypes while allowing free, and sometimes different, recombination in each of the homokaryotypes. We provide equations for the per generation change of the various disequilibria for systems with two and three chromosome arrangements, and the general recursive equations predicting the disequilibria after any number of generations for the case of two arrangements. Simulation studies were carried out using different values of the recombination parameters and all possible initial conditions. The results show a complex convergence to linkage equilibrium in inversion systems. The various disequilibria can have local maxima and minima while approaching equilibrium and, moreover, their dynamics cannot be described, in general, using a single parameter, i.e. an effective recombination rate. We conclude that the effects of inversions on gametic disequilibria must be carefully considered when dealing with disequilibria in inversion systems. The formulae provided in this paper can be used for such purpose.

Alleles↗
PubMed1996

Measuring selective effects of modifier gene polymorphisms on the Bare locus of Drosophila subobscura.

An attempt to quantify the effects of modifier gene polymorphisms on the operation of natural selection on a major locus has been carried out. The modifier system we have investigated is constituted by a set of polygenic modifier loci affecting the morphological expression of the Bare (Ba) bristle mutant of Drosophila subobscura. Ba is a dominant mutant that is lethal in homozygous condition and both the polygenic modifiers and Ba are located on the O chromosome of this species. Experimental populations were found with Ba/+ individuals and two different types of populations were started according to their modifier genetic background: populations with wild O chromosomes of either high or low modifier effect (cages H and L, respectively). Fitness estimates (total fitness, viability and fertility) for genotypes of the Ba locus were obtained under the two different modifier backgrounds. In the populations with high modifier background the total fitness of the Ba/+ heterozygote was very similar to that of the +/+ homozygote (fitness equal to 1). However, in cages with low modifier background a strong selection against the Ba/+ heterozygote was detected (average of total fitnesses over generations was 0.66 +/- 0.10), and fertility appears to be the fitness component responsible for this effect (mean fertility was 0.55 +/- 0.08). These findings demonstrate that modifier gene polymorphisms affecting the expression of the Ba mutant may be associated with large selective effects on the major locus.

Animals↗
PubMed1996

Time-series analysis of seasonal changes of the O inversion polymorphism of Drosophila subobscura.

We have studied seasonal variation (spring, early summer, last summer and autumn) of inversion polymorphisms of the O chromosome of Drosophila subobscura in a natural population over 15 years. The length of the study allowed us to investigate the temporal behavior (short-term seasonal changes and long-term directional trends) of the O arrangements by the powerful statistical method of time series analysis. It is shown that the O inversion polymorphisms varied on two different time scales: short-term seasonal changes repeated over the years superimposed on long-term directional trends. All the common arrangements (O3+4+7, Osr, O3+4+8) showed significant cyclic seasonal changes, and all but one of these arrangements (O3+4+7) showed significant long-term trends. Moreover, the degree of seasonality was different for different arrangements. Thus, O3+4+7 and OST showed the highest seasonality, which accounted for approximately 61 and 47% of their total variances, respectively. The seasonal changes in the frequencies of chromosome arrangements were significantly associated with the seasonal variation of the climate (temperature, rainfall, humidity and insolation). In particular, O3+4+7 and OST, the arrangements with the greatest seasonal component, showed the strongest association with all climatic factors investigated, especially to the seasonal changes of extreme temperature and humidity.

Animals↗
PubMed1995

Distinct genetic subdivision in sympatric and sibling species of the genus Littorina (Gastropoda: Littorinidae).

The genetic structure of two sibling and sympatric species of the genus Littorina was compared using allozymic loci. The two species are biologically and ecologically well-known and mostly show similar life history characteristics. Three populations of L. mariae Sacchi & Rastelli and L. obstusata (L.) were studied in the Muros-Noya Ria (Galicia, NW Spain). In addition, four microgeographical subsamples taken from one of the populations were analysed for each species. Age, sex and genotypes for nine polymorphic loci were studied in 1250 snails of both species. L. mariae showed larger genetic population subdivision and lower heterozygosity levels for the loci studied than did L. obtusata. Heterozygote deficiencies were found in only a few cases in natural populations of both species, usually affecting the Lap-1 locus. No significant genetic differences among age or sex classes were found. These results may be explained by the lower effective population size in L. mariae than in L. obtusata. Known differences between these species in generation interval and population density during the winter can cause the different effective population sizes suggested. These life history characteristics appear to provide the most likely explanations for the differences in genetic differentiation and heterozygosity between the two species. A previously unknown L. mariae morph from exposed shores is tentatively suggested to be conspecific.

Animals↗
PubMed1994

Serum factors inhibitory for in vitro development of Plasmodium falciparum blood-stage parasites.

Sera from 29 individuals residing in a malaria-endemic region of Colombia were evaluated by an inhibition assay for their capacity to retard the growth of Plasmodium falciparum in vitro. The inhibitory activity was found to be independent of antibody activity. Furthermore, the degree of inhibition of parasite development was variable, depending on the parasite isolate used for the assay and the season of malaria transmission. We selected sera with high inhibitory activity and carried out partial analytical characterization by anion exchange fast protein liquid chromatography (FPLC) to identify the chemical nature of the inhibitory factor(s). The results suggested that the in vitro inhibitory activity might result from the additive effect of different molecules. It appears that these molecules could be non-specifically induced by stimulation of the immune system, they seem to play a role in the immunity to malaria.

Adolescent↗