Biomedical subjects

J L Santos

Publications and source records attributed to J L Santos.

At least 19 recordsLinked to original sources

PubMed2006

Occurrence and risk assessment of pharmaceutically active compounds in wastewater treatment plants. A case study: Seville city (Spain).

The occurrence of four anti-inflammatory drugs (diclofenac, ibuprofen, ketoprofen and naproxen), an antiepileptic drug (carbamazepine) and a nervous stimulant (caffeine) in influent and effluent samples from four wastewater treatment plants (WWTPs) in Seville was evaluated. Removal rates in the WWTPs and risk assessment of the pharmaceutically active compounds have been studied. Analytical determination was carried out by high performance liquid chromatography (HPLC) with diode array (DAD) and fluorescence (Fl) detectors after sample clean up and concentration by solid phase extraction. All pharmaceutically active compounds, except diclofenac, were detected not only in wastewater influents but also in wastewater effluents. Mean concentrations of caffeine, carbamazepine, ketoprofen and naproxen ranged between 0.28-11.44 microg l(-1) and 0.21-2.62 microg l(-1) in influent and effluent wastewater, respectively. Ibuprofen was present in the highest concentrations in the range 12.13-373.11 microg l(-1) and 0.78-48.24 microg l(-1) in influent and effluent wastewater, respectively. Removal rates of the pharmaceuticals ranged between 6 and 98%. Risk quotients, expressed as ratios between the measured environmental concentration (MEC) and the predicted no effect concentrations (PNEC) were higher than 1 for ibuprofen and naproxen in influent wastewater and for ibuprofen in effluent wastewater.

Chromatography, High Pressure Liquid↗

PubMed2006

Optical inclinometer based on a single long-period fiber grating combined with a fused taper.

A new concept to measure rotation angles based on a fiber-optic modal Mach-Zehnder interferometer is demonstrated by using a nonadiabatic taper cascaded with a long-period fiber grating. Information about the magnitude of the rotation angle can be obtained from the measurement of the interference pattern visibility, and under certain conditions it is also possible to obtain the sign of the rotation angle from the induced phase variation in the fiber interferometer.

Journal Article↗

PubMed2006

Lack of association between the fatty acid binding protein 2 (FABP2) polymorphism with obesity and insulin resistance in two aboriginal populations from Chile.

The aim of this study was to assess the frequency of fatty acid binding protein 2 (FABP2) Ala54Thr genetic polymorphism and to evaluate its association with obesity and insulin resistance in Chilean aboriginal populations. A sample of 96 urban Aymara and 111 urban Mapuche subjects aged 20-80 years were recruited for this cross-sectional study. Glucose, insulin and lipid profile were measured in fasting plasma samples. Insulin resistance was estimated through the HOMA-IR model. FABP2 Ala54Thr genotypes were determined by PCR followed by RFLP analysis. The allele frequency of Thr54 variant was estimated as 18.2% in Aymara subjects, which is one of the lowest reported to date. The corresponding frequency in Mapuche subjects was 31.9% (p<0.002). Regarding genotype-phenotype associations, no significant differences were found in any of the anthropometric or metabolic variables according to Ala54Thr genotypes. After adjustment by BMI and metabolic variables through a logistic regression analysis, the association of the FABP2 polymorphism with ethnic group persisted (Mapuche group: OR=2.37, 95% CI 1.319-4.277, p=0.004) It is unlikely that Ala54Thr polymorphism of the FABP2 gene plays a relevant role in obesity and insulin resistance in Chilean ethnic groups.

Amino Acid Substitution↗

PubMed2005

No evidence of association between the serotonin 2A receptor--1438G/A promoter polymorphism and childhood obesity in a Spanish population: A case-parent study and a matched case-control study.

Serotonin has been related to feeding behaviour and body weight control through its suppressive effect on appetite. Conflicting results have been published in the literature regarding the association between the - 1438 G/A promoter polymorphism of the 5HT2A gene with obesity-related variables. The aim of this study was to assess the association between the--1438 G/A polymorphism of the 5HT2A gene with childhood obesity in a Spanish population. A total of 136 cases aged 6-16 years with BMI above the 97th percentile of the Spanish BMI reference data for age and gender were matched by gender and age (+/- 6 months) with 136 controls. Additionally, 43 obese children and their parents were selected for a family-based association study (case-parent study). Genotyping was carried out by polymerase chain reaction and restriction enzyme analysis. Conditional logistic regression and transmission/disequilibrium test were used to assess genotype-obesity association. In the matched case-control study, the crude and adjusted odds ratios for the association between 5HT2A--1438 G/A genotypes were nonsignificant. Likewise, no association is suggested by the case-parent study. In conclusion, it is unlikely that the--1438 G/A polymorphism of 5HT2A gene may influence obesity in a Spanish children population.

Alleles↗

PubMed2005

Does weight loss prognosis depend on genetic make-up?

The prevalence of obesity is rising throughout the world. Indeed, obesity has reached epidemic proportions in many developed and transition countries. Obesity is a complex disease with multifactorial origin, which in many cases appears as a polygenic condition affected by environmental factors. Treatment or prevention of obesity is necessary to reverse or avoid the onset of type 2 diabetes and other obesity-related diseases. Weight loss is a complex trait that depends on many environmental, behavioural and genetic influences. An effective programme for the management of overweight and obesity must take into account all of these factors. Individual responses to weight loss interventions vary widely and reliable predictors of successful slimming are poorly understood. The individual genetic make-up participating in energy expenditure regulation, appetite control, lipid metabolism and adipogenesis, have been reported to affect the risk of treatment failure in some subjects. In addition, the genotype could also help to predict the changes in lipid profile, cardiovascular risk factors and insulin sensitivity in response to weight loss. Herein, the current evidence from human studies that support the existence of a genetic component and the participation of different polymorphisms in the prognosis of weight loss induced by interventions leading to a negative energy balance are reviewed.

Energy Metabolism↗

PubMed2005

The controversial telomeres of lily plants.

The molecular structure of the exceptional telomeres of six plant species belonging to the order Asparagales and two species of the order Liliales was analyzed using Southern blot and fluorescence in situ hybridization. Three different situations were found, namely: i) In the two Liliales species, Tulipa australis (Liliaceae) and Merendera montana (Colchicaceae), the chromosome ends display hybridization signals with oligonucleotides resembling telomere repeats of both plants (TTTAGGG)n and vertebrates (TTAGGG)n. ii) Asparagales species such as Phormium tenax (Hemerocallidaceae), Muscari comosum (Hyacinthaceae), Narcissus jonquilla (Amaryllidaceae) and Allium sativum (Alliaceae) lack both the plant telomere repeats and the vertebrate telomere repeats. iii) Two other Asparagales species, Aloe vera (Asphodelaceae) and an Iris hybrid (Iridaceae), display positive hybridization with the vertebrate telomere repeats but not with the plant telomere repeats. Southern blot hybridization revealed concurring results. On this basis, the composition of the telomere structure in this plant group is discussed.

Blotting, Southern↗

PubMed2005

Understanding the cytological diploidization mechanism of polyploid wild wheats.

The allohexaploid Aegilops species (2n = 6x = 42), Ae. neglecta 6x (UUXtXtNN), Ae. juvenalis (DcDcXcXcUU), and Ae. vavilovii (DcDcXcXcSsSs) regularly form bivalents at metaphase I. However, in Ae. crassa 6x (DcDcXcXcDD) 0.27 quadrivalents per cell were observed probably as a consequence of the partial homology displayed by the D and Dc genomes. Likewise, the synthetic amphiploid Ae. ventricosa-Secale cereale (DDNNRR) is fertile and displays a diploid-like behavior at metaphase I, despite its recent origin. The pattern of synapsis at late zygotene and pachytene in the natural and artificial allohexaploids was analyzed by whole-mount surface-spreading of synaptonemal complexes under an electron microscope. It revealed that chromosomes were mostly associated as bivalents in all cases, the mean of multivalents per nucleus ranging from 0.17 (Ae. neglecta 6x) to 1.03 (Ae. crassa 6x) in the natural species and 1.05 in the Ae. ventricosa-S. cereale amphiploid. It can be concluded that the mechanism controlling bivalent formation in these species and also in the synthetic amphiploid acts mainly at zygotene by restricting synapsis to homologous chromosomes, but also acts at pachytene by preventing chiasma formation in the homoeologous associations. These observations are discussed in relation to the origin and evolution of the mechanism of diploidization in the allopolyploid species of the Poaceae family.

Chromosome Pairing↗

PubMed2004

Association between aminolevulinate dehydrase genotypes and blood lead levels in children from a lead-contaminated area in Antofagasta, Chile.

Childhood environmental lead exposure in the city of Antofagasta, Chile, was generated by the accumulation of recently removed lead stores derived from mining activities for a long period of time. Susceptibility to harmful lead effects may be associated with polymorphisms of delta-aminolevulinic acid dehydratase (ALAD) because of the differential binding of lead to the codified proteins. We assessed the associations and possible interactions among the following variables: blood lead levels, ALAD genotypes, and distance to the source of lead contamination in Chilean children exposed to lead contamination in Antofagasta, Chile. Ninety-three children were recruited from schools located near a lead- contaminated area. Lead blood levels were measured by atomic absorption spectrophotometry. ALAD genotypes were determined by polymerase chain reaction and restriction fragment-length polymorphism analysis. The frequency of the ALAD-2 allele was estimated at 0.054. Children with the ALAD-2 genotype had higher blood lead levels than noncarriers (p = 0.06). As expected, blood lead levels were inversely correlated with the distance from lead stores. Interestingly, ALAD-2 carriers were more frequent within the area defined by a distance of 200 m from lead deposits (27%) than in areas >200 m (5%) away. Children living within a maximum distance of 200 m from the lead stores showed higher blood lead levels in ALAD-2 carriers (geometric mean = 16.4 microg/dl, range 6 to 27) than in noncarriers (geometric mean = 12.1 microg/dl, range 0 to 26) without achieving statistical significance (p = 0.13). A trend for higher blood lead levels in ALAD-2 carriers compared with ALAD-1 homozygous children has been observed. Because ALAD-2 frequency was higher in subjects living within 200 m from the lead deposits, we hypothesized that a long-term selective pressure against the presence of the ALAD-1 allele is the cause of the overrepresentation of the ALAD-2 allele in children living in proximity to the recently removed lead stores.

Child↗

PubMed2004

Anthropometric measurements in the elderly population of Santiago, Chile.

OBJECTIVE: There are few studies on anthropometry and nutritional status in large and representative samples of elderly populations in Chile and South America. We describe age and sex differences in weight, height, body mass index, knee height, waist circumference, midarm circumference, triceps skinfold thickness, arm muscle area, and calf circumference in Chilean elderly subjects. METHODS: This was a population-based, cross-sectional study. A total of 1220 elderly persons (819 women and 411 men; age range, 60-99 y) were recruited in the city of Santiago (Chile) through a probabilistic sampling procedure carried out from October to December 1999. RESULTS: Men were significantly heavier and taller than women in all age groups, whereas body mass index values were significantly higher in women than in men. All anthropometric variables showed a decrease in average values with aging in men and women. The apparent negative slopes for the decline in average values of body weight with aging was of greater magnitude in women than in men (-0.42 kg/y and -0.54 kg/y in male and female subjects, respectively). However, significant age x sex interaction was detected only for triceps skinfold thickness. In women, quadratic terms for age provided a significantly better fit than did the simple linear model for the association between age and weight, body mass index, waist circumference, triceps skinfold thickness, calf circumference, or midarm circumference. CONCLUSION: These observations indicated that body weight changes associated with aging might be more severe in Chilean women than in men, probably determining a differential pattern of lean and fat mass loss.

Age Distribution↗

PubMed2004

X and B chromosomes display similar meiotic characteristics in male grasshoppers.

We have analysed the chromosome organisation and the location and temporal appearance of different proteins in X and B chromosomes in the grasshopper Eyprepocnemis plorans throughout the first meiotic prophase. We have used adult males that carry a B chromosome collected in natural Spanish populations. The scaffold organisation has been analysed by means of silver stained chromatid cores. In addition, we have detected by immunolabelling the presence of phosphoepitopes, the ensemble of cohesin axes, the location of histone gamma-H2AX, and recombinase Rad51. Our observations demonstrate that X and B chromosomes share similarities in chromatin organisation and in the expression of the tested proteins, which strongly differ from those of the autosomes. These results could be interpreted either as a support to the hypothesis that the Bs analysed here originated from the X chromosome, and/or that their chromatin composition and precocious condensation could determine their meiotic behaviour.

Animals↗

PubMed2004

Linkage disequilibrium between MSX1 and non-syndromic cleft lip/palate in the Chilean population.

Non-syndromic cleft lip/palate (NSCLP) is a complex genetic trait. Linkage and association studies have suggested that a clefting locus could be located on chromosome 4p. Sixty Chilean families were recruited for this study; from these, we used unrelated trios to evaluate the possible linkage disequilibrium between MSX1 and NSCLP. An intragenic marker, MSX1-CA, and an extragenic marker, D4S432 at a distance of 0.8 cM from MSX1, were analyzed by means of polymerase chain-reaction with fluorescent-labeled forward primers, followed by electrophoresis on a laser-fluorescent sequencer. We carried out a transmission/disequilibrium test (TDT) for multiple alleles to evaluate the presence of linkage disequilibrium. Results showed a preferential transmission of the 169-bp allele of MSX1 (p = 0.03). Although there was no preferential transmission for the D4S432 marker, the overall extended TDT (ETDT) showed a significant result (p = 0.01). The authors' findings support the hypothesis of the contribution of MSX1 in the etiology of NSCLP in the Chilean population.

Adult↗

PubMed2003

Incidence rate of type 1 diabetes in Santiago (Chile) by HLA-DQA1 and DQB1 genotypes.

The aim of this study was to estimate annual incidence rate of type 1 diabetes according to the levels of genetic susceptibility provided by HLA-DQA1 and HLA-DQB1 genotypes. Two information sources were used: (1) a population-based incidence study in which 61 incident cases were ascertained during 1 year in Santiago, Chile (incidence rate: 4.11 cases per 100,000 children per year) and (2) a case-control comparison of 57 cases (recruited from the incidence study) and 125 controls. Susceptibility alleles were defined as DQA1*0301 and DQA1*0501 for DQA1 gene and alleles DQB1*0201 and DQB1*0302 for DQB1 gene. In DQA1 gene, the highest point estimate of the incidence rate was calculated for the genotype DQA1*0501/DQA1*0501 (33.04 cases per 100,000 children aged less than 15 years old and per year; 95% CI: 9.22-118.33). In the DQB1 gene, the highest risk was estimated for the genotype DQB1*0201/DQB1*0201 (20.35 cases per 100,000 children aged less than 15 years old and per year; 95% CI: 5.26-78.67). This study shows an application on how a transformation of the logistic equation based on Bayes' theorem can be used to estimate incidence rates from case-control studies and population-based incidence rates.

Adolescent↗

PubMed2003

Partial diploidization of meiosis in autotetraploid Arabidopsis thaliana.

Meiosis was analyzed cytogenetically in autotetraploids of Arabidopsis, including both established lines and newly generated autotetraploid plants. Fluorescent in situ hybridization with 5S and 45S rDNA probes was used to identify the different chromosomes at metaphase I of meiosis. Multivalents were observed frequently in all the lines analyzed, but there were significant differences in multivalent frequency not only between the newly generated tetraploids and the established lines but also among the different established lines. The new tetraploids showed high multivalent frequencies, exceeding the theoretical 66.66% predicted by the simple random-end pairing model, in some cases significantly, thus indicating that Arabidopsis autotetraploids have more than two autonomous pairing sites per chromosome, despite their small sizes. The established lines showed fewer multivalents than the new autotetraploids did, but the extent of this reduction was strongly line and chromosome dependent. One line in particular showed a large reduction in multivalents and a concomitant increase in bivalents, while the other lines showed lesser reductions in multivalents. The reduction in multivalents was not uniformly distributed across chromosomes. The smaller chromosomes, especially chromosomes 2 and 4, showed the most marked reductions while the largest chromosome (1) showed virtually no reduction compared to the new tetraploids. It is concluded that the established autotetraploid lines have undergone a partial diploidization of meiosis, but not necessarily genetical diploidization, since their creation. Possible mechanisms for the resulting change in meiotic chromosome behavior are discussed.

Arabidopsis↗

PubMed2002

Simultaneous determination of curvature, plane of curvature, and temperature by use of a miniaturized sensing head based on fiber Bragg gratings.

We present what we believe to be a novel miniaturized sensor configuration based on fiber Bragg gratings for simultaneous measurement of curvature and temperature in smart structures and composite materials. Because of the particular geometry of the sensing head, it is possible not only to measure the radius of curvature but also to determine the plane of curvature. We arrange three Bragg gratings in the vertices of the smallest equilateral triangle that can be defined by the cross sections of the fibers. The set is then inserted into a glue-filled capillary stainless-steel tube to provide both suitable protection for the Bragg sensors and rotational symmetry to the sensing head. This tube also ensures isolation from axial strain, allowing for the additional determination of temperature. The proposed sensing head is particularly well suited for applications in smart structures because it can be embedded along any layer of a composite material (including the neutral line) without special concern for the relative orientation of the Bragg gratings and the composite layers. We can also use this sensing configuration to implement more-sophisticated sensors dedicated, for example, to the measurement of multiaxial acceleration or flow and temperature.

Journal Article↗

PubMed2002

Prevalence of Type II diabetes mellitus and insulin resistance in parents of women with polycystic ovary syndrome.

AIMS/HYPOTHESIS: Insulin resistance with increased risk of Type II (non-insulin-dependent) diabetes is a common feature of polycystic ovary syndrome (PCOS). To investigate antecedents of metabolic disorders in family members of patients with PCOS, we evaluated glucose tolerance and insulin resistance in parents of patients with PCOS compared to parents of healthy women. METHODS: A total of 200 parents of women with clinical and hormonal evidence of PCOS (PCOSp) and 120 parents of healthy normally cycling women (HWp) were studied. A 75-g OGGT was performed and subjects were classified according to the World Health Organization (WHO) criteria (1999). Serum glucose and insulin were measured before the glucose load and 30, 60 and 120 min after. C-peptide and sex hormone-binding globulin were also determined before the glucose load. Insulin resistance was assessed by HOMA model and ISI composite. RESULTS: The prevalence of Type II diabetes was 1.89-(1.06-3.38)-fold higher in PCOSp compared to HWp. Insulin resistance, evaluated by HOMA(IR)and ISI composite was also significantly higher in the PCOSp group compared to the HWp group. After both study groups were distributed by sex, and adjusted by age and BMI, the metabolic parameters were still significantly different between PCOSp and HWp. CONCLUSIONS/INTERPRETATION: The data suggest that parents of PCOS women exhibit insulin resistance and Type II diabetes more frequently than those of healthy women, thus constituting a high-risk group but an ideal cohort to detect and prevent the development of Type II diabetes.

Adolescent↗

PubMed2002

Sex-dependent synaptic behaviour in triploid turbot, Scophthalmus maximus (Pisces, Scophthalmidae).

A surface-spreading synaptonemal complex (SC) technique was used to analyse spermatocytes and oocytes of triploid turbot (Scophthalmus maximus) in order to visualise the process of chromosome synapsis. The most conspicuous characteristic of triploid oocytes is that, in the trivalents, the lateral elements of the SC were frequently associated in threes, either completely along the length of the trivalent, or partially, forming a variety of forked structures. In these nuclei, synapsis usually occurred among homologous chromosomes and the number of bivalents observed was significantly higher than that expected under the assumption of random chromosome association among all partners. However, the frequency of trivalents was very low in triploid spermatocytes, triple synapsis being also scarce. In these nuclei chromosomes that were excluded from homologous synapsis become engaged in random SC formation, and, therefore a considerable number of non-homologous associations are produced. The causes of the synaptic differences observed in triploid males and females of turbot and their possible relation to the sterility displayed by these animals are discussed.

Animals↗

PubMed2002

Variation in chiasma frequency among eight accessions of Arabidopsis thaliana.

Natural variation in meiotic recombination frequency in Arabidopsis thaliana has been assessed by analyzing chiasma frequency variation among a range of geographically and ecologically diverse accessions. Fifty pollen mother cells at metaphase I of meiosis were analyzed from each of eight accessions and fluorescence in situ hybridization was applied to enable identification of all 10 chromosome arms. There was no significant variation in mean chiasma frequency between plants within accessions, but there was significant variation between accessions. Further analysis confirmed this finding and identified two particular accessions, Cvi and Ler, as having chiasma frequencies significantly lower than those of the other accessions. The analysis also revealed that the pattern of chiasma distribution between arms and among chromosomes is not consistent over accessions. Further detailed analyses were conducted on each individual chromosome (1-5) in turn, revealing that chromosome 4, one of the acrocentric chromosomes, is the least variable while the other acrocentric chromosome (2) is the most variable. These findings indicate the existence of recombination regulatory elements in Arabidopsis and we conclude that it may be possible in the future to identify these elements and determine their mode of action. The practical implications of such developments are considerable.

Analysis of Variance↗

PubMed2002

Synaptic behaviour and morphological modifications of the X and Y chromosomes during pachytene in three species of Ctenomys (Rodentia, Caviomorpha, Ctenomyidae).

Synaptic behaviour and the progression of morphological differentiation of the XY chromosome pair during pachytene was studied for the first time in three species of the South American subterranean rodents of the genus Ctenomys (tuco-tucos). In general, synapsis progression in the sex pair could be subdivided into four substages: (i) initial partial synapsis of the X and Y chromosome axes and beginning of the differentiation of the unsynapsed regions; (ii) complete or almost complete synapsis of the Y axis accompanied with morphological differentiation of the unsynapsed region of the X chromosome; (iii) a novel stage exclusive to Ctenomys perrensi consisting in a retraction of the free X axis, associated with the formation of a homogeneous and dense structure along the synaptic region, which leads to the achievement of full synapsis between sex chromosomes; or (iv) an increase in morphological complexity involving extreme splitting of the XY pair. The implications of the peculiar synaptic behaviour displayed by sex chromosomes in C. perrensi, a species complex highly polymorphic for Robertsonian translocations, are discussed in relation to both the triggering of the pachytene checkpoint and the avoidance of non-homologous associations between sex chromosomes and the asynaptic pericentromeric regions of trivalents in translocation heterozygotes.

Animals↗