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M Ruiz

Publications and source records attributed to M Ruiz.

At least 19 recordsLinked to original sources
PubMed2006

Molecular analysis of estrogen receptor alpha gene AGATA haplotype and SNP12 in European populations: potential protective effect for cryptorchidism and lack of association with male infertility.

BACKGROUND: A specific haplotype (AGATA) in the estrogen receptor alpha (ER1) gene was recently described as a new risk factor for cryptorchidism in the Japanese population. In this ethnic group, single-nucleotide polymorphism 12 (SNP12) was concluded to be the tag SNP for the AGATA haplotype. MATERIALS AND METHODS: A large group of patients (total number=335) and controls (total number=567) of two Caucasian populations were analysed for the AGATA haplotype and SNP12 to verify whether this genetic variant and its tag SNP were associated with cryptorchidism or with severe spermatogenic failure. RESULTS: We confirm that SNP12 is the tag SNP for the AGATA haplotype also in Caucasians. However, in contrast with the Japanese population we found a protective effect for ESR1 SNP12 on cryptorchidism in the Italian population. No association between SNP12 and severe spermatogenic disturbances was observed. CONCLUSIONS: The observed associations (although with opposite effect) with cryptorchidism encourage future studies on independent cases and controls from different ethnic and geographic origins. On the other hand, in contrast with other ESR1 polymorphisms, SNP12 polymorphism is not associated with severe male factor infertility in two independent European population.

Cryptorchidism↗
PubMed2006

OryGenesDB: a database for rice reverse genetics.

Insertional mutant databases containing Flanking Sequence Tags (FSTs) are becoming key resources for plant functional genomics. We have developed OryGenesDB (http://orygenesdb.cirad.fr/), a database dedicated to rice reverse genetics. Insertion mutants of rice genes are catalogued by Flanking Sequence Tag (FST) information that can be readily accessed by this database. Our database presently contains 44166 FSTs generated by most of the rice insertional mutagenesis projects. The OryGenesDB genome browser is based on the powerful Generic Genome Browser (GGB) developed in the framework of the Generic Model Organism Project (GMOD). The main interface of our web site displays search and analysis interfaces to look for insertions in any candidate gene of interest. Several starting points can be used to exhaustively retrieve the insertions positions and associated genomic information using blast, keywords or gene name search. The toolbox integrated in our database also includes an 'anchoring' option that allows immediate mapping and visualization of up to 50 nucleic acid sequences in the rice Genome Browser of OryGenesDB. As a first step toward plant comparative genomics, we have linked the rice and Arabidopsis whole genome using all the predicted pairs of orthologs by best BLAST mutual hit (BBMH) connectors.

Chromosome Mapping↗
PubMed2006

Influence of degree of hepatic steatosis on graft function and postoperative complications of liver transplantation.

The aim of this study was to evaluate the impact on initial graft function of the degree of steatosis detected in the back-table biopsy, and its repercussion on the clinical results of the transplant (early posttransplant mortality and morbidity). We undertook a retrospective analysis of 300 liver transplants performed at our center from 1997 to 2004. A wedge liver biopsy was done routinely during back-table surgery (available in 294 transplants). The degree of steatosis was classified as: S0-no steatosis, 201 transplants; S1-mild steatosis (<30%), 58 transplants; S2-moderate steatosis (30% to 60%), 18 transplants; and S3-severe steatosis (>60%), 17 transplants. The ischemia-reperfusion (I/R) injury, based on the maximum mean peak aspartate transferase in the first 72 posttransplant hours, tended to be greater as the degree of graft steatosis increased: S0, 1316; S1, 1985; S2, 2446; and S3, 2955 (P < .005 between S0 and S3). This greater initial hepatic dysfunction was correlated in the group with severe steatosis with a higher rate of severe renal failure requiring hemofiltration/hemodialysis: S0, 9%; S1, 15%; S2, 11%; and S3, 41% (P < .001); as well as with a higher early mortality (90 days): S0, 10%; S1, 21%; S2, 11%; and S3, 41% (P < .001). The Kaplan-Meier survival curve showed a significant difference (log-rank and Breslow) between the group with severe steatosis and the group with no steatosis (P = .002). We conclude that the degree of liver graft steatosis is an important determinant of I/R injury, although this progressive increase in the I/R injury with the degree of steatosis only had clinical repercussions in the case of severe steatosis.

Fatty Liver↗
PubMed2005

Phase II randomised trial of raltitrexed-oxaliplatin vs raltitrexed-irinotecan as first-line treatment in advanced colorectal cancer.

The purpose of this phase II randomised trial was to determine which of two schemes, raltitrexed-irinotecan or raltitrexed-oxaliplatin, offered better activity and less toxicity in patients with advanced colorectal cancer (CRC). A total of 94 patients with previously untreated metastatic CRC were included and randomised to receive raltitrexed 3 mg m(-2) followed by oxaliplatin 130 mg m(-2) on day 1 (arm A), or CPT-11 350 mg m(-2) followed by raltitrexed 3 mg m(-2) (arm B). In both arms treatment was repeated every 3 weeks. Intent-to-treat (ITT) analysis showed an overall response rate of 46% (95% CI, 29.5-57.7%) for arm A, and 34% (95% CI, 19.8-48.4%) for arm B. Median time to progression was 8.2 months for arm A and 8.8 months for arm B. After a median follow-up of 14 months, 69% of patients included in arm A were still alive, compared to 59% of those included in arm B. Overall, 31 patients (65%) experienced some episode of toxicity in arm A and 32 patients (70%) in arm B, usually grade 1-2. The most common toxicity was hepatic, with 29 patients (60%) in arm A and 24 patients (62%) in arm B, and was grade 3-4 in four (8%) and four (9%) patients, respectively. In all, 14 patients (29%) from arm A and 24 patients (52%) from arm B had some grade of diarrhoea (P<0.03). Neurologic toxicity was observed in 31 patients (64%) in arm A, and was grade 3-4 in five patients (10%), while a cholinergic syndrome was detected in nine patients (19%) in arm B. There were no differences in haematologic toxicity. One toxic death (2%) occurred in arm A and three (6.5%) in arm B. In conclusion, both schemes have high efficacy as first-line treatment in metastatic CRC and their total toxicity levels are similar. Regimens with raltitrexed seem a reasonable alternative to fluoropyrimidines.

Adult↗
PubMed2005

Scientific management of Mediterranean coastal zone: a hybrid ocean forecasting system for oil spill and search and rescue operations.

The oil spill from Prestige tanker showed the importance of scientifically based protocols to minimize the impacts on the environment. In this work, we describe a new forecasting system to predict oil spill trajectories and their potential impacts on the coastal zone. The system is formed of three main interconnected modules that address different capabilities: (1) an operational circulation sub-system that includes nested models at different scales, data collection with near-real time assimilation, new tools for initialization or assimilation based on genetic algorithms and feature-oriented strategic sampling; (2) an oil spill coastal sub-system that allows simulation of the trajectories and fate of spilled oil together with evaluation of coastal zone vulnerability using environmental sensitivity indexes; (3) a risk management sub-system for decision support based on GIS technology. The system is applied to the Mediterranean Sea where surface currents are highly variable in space and time, and interactions between local, sub-basin and basin scale increase the non-linear interactions effects which need to be adequately resolved at each one of the intervening scales. Besides the Mediterranean Sea is a complex reduced scale ocean representing a real scientific and technological challenge for operational oceanography and particularly for oil spill response and search and rescue operations.

Disaster Planning↗
PubMed2005

Mutant prevention concentration of isoniazid, rifampicin and rifabutin against Mycobacterium tuberculosis.

BACKGROUND: Mutant prevention concentration (MPC) is a new parameter that may be of aid in determining the risk of resistant mutants being selected. METHODS: The MPCs of 224 Mycobacterium tuberculosis clinical isolates were estimated by plating more than 10(10) cells on drug-containing agar and determining the concentration that allowed no colony growth. Antibiotics used were isoniazid, rifampicin and rifabutin. RESULTS: The MPC90 of clinical isolates in our setting is 2.4, 2.2 and 0.4 mg/l for isoniazid, rifampicin and rifabutin, respectively. CONCLUSIONS: Isoniazid and rifampicin are two drugs that present a low risk of selection of resistant mutants when used in monotherapy. However, determination of the MPC of each strain can provide data to minimize this risk and thus enable treatment to be optimized.

Antitubercular Agents↗
PubMed2005

Increasing the intracellular availability of all-trans retinoic acid in neuroblastoma cells.

Recent data indicate that isomerisation to all-trans retinoic acid (ATRA) is the key mechanism underlying the favourable clinical properties of 13-cis retinoic acid (13cisRA) in the treatment of neuroblastoma. Retinoic acid (RA) metabolism is thought to contribute to resistance, and strategies to modulate this may increase the clinical efficacy of 13cisRA. The aim of this study was to test the hypothesis that retinoids, such as acitretin, which bind preferentially to cellular retinoic acid binding proteins (CRABPs), or specific inhibitors of the RA hydroxylase CYP26, such as R116010, can increase the intracellular availability of ATRA. Incubation of SH-SY5Y cells with acitretin (50 microM) or R116010 (1 or 10 microM) in combination with either 10 microM ATRA or 13cisRA induced a selective increase in intracellular levels of ATRA, while 13cisRA levels were unaffected. CRABP was induced in SH-SY5Y cells in response to RA. In contrast, acitretin had no significant effect on intracellular retinoid concentrations in those neuroblastoma cell lines that showed little or no induction of CRABP after RA treatment. Both ATRA and 13cisRA dramatically induced the expression of CYP26A1 in SH-SY5Y cells, and treatment with R116010, but not acitretin, potentiated the RA-induced expression of a reporter gene and CYP26A1. The response of neuroblastoma cells to R116010 was consistent with inhibition of CYP26, indicating that inhibition of RA metabolism may further optimise retinoid treatment in neuroblastoma.

Acitretin↗
PubMed2005

Usefulness of various antibiotics against Mycobacterium avium-intracellulare, measured by their mutant prevention concentration.

This study looked the selection of resistant mutants in Mycobacterium avium-intracellulare during antibiotic treatment. The mutant prevention concentration (MPC) of 20 Mycobacterium avium and 12 Mycobacterium intracellulare isolates was determined. Fifty percent of Mycobacterium avium strains had MPC (MPC50) values lower than 16, 64, 40, 55 and 60 mg/L for rifabutin, rifampicin, ciprofloxacin, levofloxacin and moxifloxacin, respectively. In the case of Mycobacterium intracellulare, 50% had MPC (MPC50) values below 60, 30, 35, 16, 2.5 and 14 mg/L for linezolid, rifabutin, levofloxacin, gatifloxacin, moxifloxacin and clarithromycin, respectively. The high capacity for selecting resistant mutants of all the antibiotics studied emphasises the need to restore the immune system if necessary and to administer combined treatments in order to cure patients.

Acetamides↗
PubMed2005

Old-fashioned responses in an updating memory task.

Errors in a running memory task are analysed. Participants were presented with a variable-length list of items and were asked to report the last four items. It has been proposed (Morris & Jones, 1990) that this task requires two mechanisms: the temporal storage of the target set by the articulatory loop and its updating by the central executive. Two implicit assumptions in this proposal are (a) the preservation of serial order, and (b) participants' capacity to discard earlier items from the target subset as list presentation is running, and new items are appended. Order preservation within the updated target list and the inhibition of the outdated list items should imply a relatively higher rate of location errors for items from the medial positions of the target list and a lower rate of intrusion errors from the outdated and inhibited items from the pretarget positions. Contrary to these expectations, for both consonants (Experiment 1) and words (Experiment 2) we found recency effects and a relatively high rate of intrusions from the final pretarget positions, most of them from the very last. Similar effects were apparent with the embedded four-item lists for catch trials. These results are clearly at odds with the presumed updating by the central executive.

Adult↗
PubMed2005

X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females.

In this study, we analyzed the ABCD1 gene in 80 X-linked adrenoleukodystrophy (X-ALD) patients from 62 unrelated families. We identified 53 different mutations, of which 26 are novel and two are non-pathogenic sequence variants (L516L and 3'UTR, 2246C/G) that have been previously described. The Spanish population had significant allelic heterogeneity, in which most of the mutations were exclusive to a single family 47/53 (88.7%). Only six mutations (Y174S, G277R, FsE471, R518Q, P543L, and R554H) were found in more than one family. Mutations G277R, P543L, and R554H were the most frequent, each of them being found in three patients (5%). Intra-familiar phenotype variability was observed in most of the families, but in one, with the novel mutation R120P, only the adult mild phenotype was present (five hemizygous family members). We detected 80 heterozygous women by mutation analysis, but only 78 of them showed increased very-long-chain fatty acid levels. In conclusion, this study extends the spectrum of mutations in X-ALD and facilitates the identification of heterozygous females. Our results are also consistent with previous studies reporting the difficulty of predicting genotype-phenotype correlation.

ATP Binding Cassette Transporter, Subfamily D, Mem↗
PubMed2005

Reliability of the E-test method for detection of colistin resistance in clinical isolates of Acinetobacter baumannii.

We compared the E-test to the broth microdilution method for testing the susceptibility of 115 clinical isolates of Acinetobacter baumannii to colistin. Twenty-two (19.1%) strains were resistant to colistin and 93 (80.8%) strains were susceptible according to the reference broth microdilution method. A categorical agreement of 98.2% was found, with only two (1.7%) very major errors. Agreement within 1 twofold dilution between the E-test and the broth microdilution was 16.5%. Complete agreement was found for the strains for which MICs fell within the range of 0.25 to 1 microg of colistin/ml. However, there was poor concordance, particularly in extreme dilutions with higher MICs by the E-test method.

Acinetobacter Infections↗
PubMed2005

[Melanocytoma of the ciliary body].

CLINICAL CASE: We report the case of a 25 year old woman who attended our Hospital with a pigmented lesion in anterior chamber angle of her right eye. She complained of reduced visual acuity on the same eye. On examination, and once complementary tests were performed, a pigmented lesion located on the iris root and ciliary body of her right eye was confirmed. A decision to perform a local resection was made and there were no surgical complication. Histology results confirmed the diagnosis of ciliary body melanocytoma. DISCUSSION: Ciliary body melanocytoma is a benign rare lesion with only 40 cases described in the literature. A local resection of this benign lesion should be considered as alternative to enucleation, even though differential diagnosis with malignant melanoma must also be considered.

Adult↗
PubMed2005

Great vessels transposition and aortic arch exclusion.

AIM: We describe our experience in endovascular repair of Thoracic Aortic Aneurysms and Dissections (TAAD) involving the aortic arch in high risk patients (HRP). METHODS: Twenty-nine patients presented with TAAD involving the aortic arch and were treated by endovascular exclusion. Pathologies were as follows: atherosclerotic aneurysms of the descending thoracic aorta in 15 cases, acute Stanford type A dissections in 6 cases, Stanford type B dissections in 7 cases (1 acute), and 1 false aneurysm of the ascending aorta. Total-arch transpositions of all supra-aortic vessels (aortic debranching) to the ascending aorta were done in 11 cases throught median sternotomy. We performed carotido-carotid bypass (hemi-arch transposition) in 16 patients by cervicotomy. Secondary to surgical transpositions, we placed endovascular stentgrafts in all but 2 patients for final exclusion, the 2 remaining being planned for later exclusion. The Talent, Excluder, TAG and Zenith endografts were used in 12, 3, 1 and 4 cases respectively. Banding technique was associated in some cases. RESULTS: All surgical transpositions were successful although 1 led to a minor stroke (1/29=3.5%), which worsened to major stroke after endovascular exclusion. Endovascular procedures were performed in all but one case (26/27=96.3%). Two patients (2/26=7.7%) died from catheterization related complications after endovascular exclusion (iliac rupture and left ventricle perforation). One patient had a delayed minor stroke (1/26=3.8%). Recirculation was found in 13.3% (2/15) of aneurysms and 27.3% of thoracic false channels. During a mean follow-up of 15.7 months (13 days to 45.5 months), 1 patient (1/26=3.8%) who had preoperative chronic pulmonary failure died at 6 months from respiratory worsening. We observed one case (3.8%) of unilateral limb palsy unrelated to cerebral ischemia, which we successfully treated by cerebrospinal fluid (CSF) drainage. No stent-related complication was seen. One new type 1 endoleak appeared at 12 months on an aneurysm, which resolved after stentgraft extension. Three thoracic dissection false channels remained patent during follow-up, of which one was retrograde originating distally in the descending aorta. CONCLUSIONS: Secondary endovascular exclusion of thoracic aortic diseases involving the arch in HRP is made feasible thanks to the preliminary aortic debranching. Total-arch transposition may be of greater interest in case of proximal neck length uncertainty and potential embolization from the aortic arch. Mid-term results are good although patients must be followed carefully to detect aortic recirculation and enlargement.

Aged↗
PubMed2004

Action of fluoroquinolones and Linezolid on logarithmic- and stationary-phase culture of Mycobacterium tuberculosis.

BACKGROUND: The new challenges involved in the chemotherapy of tuberculosis make it necessary to find novel drugs, especially ones that are useful in the latent phase of the disease. METHODS: We evaluated the activity of linezolid and fluoroquinolones against logarithmic- and stationary-phase Mycobacterium tuberculosis. RESULTS: We observed that linezolid exhibits antibacterial action, although slowly, in both situations. Quinolones with an 8-methoxy group exhibit greater activity than levofloxacin in logarithmic growth phases, whereas levofloxacin exhibits greater activity in stationary-phase growth. CONCLUSION: The study of the activity of drugs against the M. tuberculosis microorganism in the latent phase is one of the most important tools available in the fight against the tuberculosis epidemic, and both linezolid and the new fluoroquinolones appear to be promising drugs.

Acetamides↗
PubMed2004

Dual blockade of EGFR and ERK1/2 phosphorylation potentiates growth inhibition of breast cancer cells.

One of the major targets for breast cancer therapy is the epidermal growth factor receptor (EGFR) and related receptors, which signal via different signal transduction pathways including the mitogen-activated protein kinase (MAPK) pathway. This study determined whether there is a correlation between EGFR/HER2 status and MAPK (ERK1/2) phosphorylation in breast cancer cells, and how this affects the response to an inhibitor of the receptors. Expression of EGFR, HER2 and phosphorylated ERK1/2 were measured by immunoblotting in a panel of breast cancer cell lines. Several lines expressed high levels of pERK1/2, with no obvious correlation with the level of EGFR/HER2. The EGFR tyrosine kinase inhibitor PKI166 inhibited growth and induced apoptosis in some cells with high levels of growth factor receptors (MDA-MB-468, SUM149, SKBR3), but was less effective in cells that also had high basal ERK1/2 activity (MDA-MB-231). The combination of an inhibitor of MAPK signalling (U0126) and PKI166 produced significantly more inhibition and apoptosis than either agent alone. This suggests that constitutive activation of the MAPK pathway may bypass inhibition of EGFR/HER2 tyrosine kinases, and lead to insensitivity to agents targeting the receptors. However, inhibiting both EGFR/HER2 and MAPK signalling can result in significant growth inhibition and apoptosis of EGFR-expressing breast cancer cells.

Apoptosis↗
PubMed2004

Mutant prevention concentration: comparison of fluoroquinolones and linezolid with Mycobacterium tuberculosis.

OBJECTIVES: The mutant prevention concentration (MPC) has recently been defined to characterize the capacity for severely restricting the selection of resistant mutants during antibiotic treatment. We determined this parameter for ciprofloxacin, levofloxacin, gatifloxacin, moxifloxacin and linezolid in Mycobacterium tuberculosis clinical isolates in our setting. METHODS: We determined the antibiotic concentration that prevents the selection of resistant mutants following inoculation with a high mycobacteria inoculum on Middlebrook 7H11 plates with serial dilutions of the antibiotics in 224 M. tuberculosis isolates. RESULTS: Fifty percent of the strains exhibited values of MPC (MPC(50)) lower than 0.8, 0.6, 0.4, 0.4 and 0.6 mg/L for ciprofloxacin, levofloxacin, gatifloxacin, moxifloxacin and linezolid, respectively. If 90% of the strains are considered (MPC(90)), the values are seen to rise to 2, 1.8, 1, 1.2 and 1.2 mg/L, respectively. CONCLUSIONS: When we compare this parameter with the drug levels in serum and tissue, it can be seen that ciprofloxacin is the least useful of the fluoroquinolones studied, whereas moxifloxacin appears to be the most active. Linezolid exhibits excellent activity against this microorganism (MPC(90) 1.2 mg/L and AUC 140.3 mg.h/L) and this makes us consider that its usefulness in the treatment of this pathology should be thoroughly evaluated.

Acetamides↗