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Biomedical subjects

M C Rodríguez

Publications and source records attributed to M C Rodríguez.

At least 19 recordsLinked to original sources
PubMed2004

Analysis of genetic diversity and conservation priorities in Iberian pigs based on microsatellite markers.

The Iberian breed is the most important pig population of the Mediterranean type. The genetic structure of two strains (Torbiscal and Guadyerbas) and three varieties (Retinto, Entrepelado and Lampiño) of this breed was studied using 173 pigs genotyped for 36 microsatellites. In addition, 40 pigs of the related Duroc breed were also analysed. In the 1960s, the Iberian breed's numbers were severely reduced by disease, due to economic change and to crossbreeding. Varieties are in danger of disappearance or blending. A new conservation strategy is required. An analysis was performed that allows us to ascertain the loss or gain of genetic diversity if one or several subpopulations are removed. The results are compared with those using the Weitzman method. The two methodologies produce conservation priorities that are completely different, the reason being that the Weitzman method does not take into account the within-population genetic diversity. We apply optimal contribution theory and a new procedure for cluster analysis, and discuss their value in the general framework of the problems of setting of priorities and tactics for the conservation of genetic resources.

Animals↗
PubMed2003

Mitochondrial DNA sequence variation and phylogenetic relationships among Iberian pigs and other domestic and wild pig populations.

Nucleotide sequences of mitochondrial DNA (mtDNA) cytochrome B gene (1140 bp) and control region (707 bp) were used to determine the phylogenetic relationships among 51 pig samples representing ancient and current varieties of Iberian pigs (26), Spanish wild boars (seven) and other domestic pigs (18) of cosmopolitan (Duroc, Large White, Landrace, Pietrain and Meishan) and local (Spotted Black Jabugo, Basque and Mangalitza) breeds. A neighbour-joining tree constructed from pairwise distances provide evidence of the European origin of both Iberian pigs and Spanish wild boars. The introgression of Asian mtDNA haplotypes in the genetic pool of the Iberian breed seems unlikely. Four estimates of sequence divergence between European and Asian clades were calculated from the two main domains of the D-loop region and the synonymous and nonsynonymous nucleotide substitutions in the cytochrome B gene. The time since the divergence of pig ancestors was estimated at about 600,000 years before present.

Animals↗
PubMed2002

Inbreeding effects on the parameters of the growth function in three strains of Iberian pigs.

The growth performance of inbred pigs coming from full-sib matings was compared to that of contemporary animals coming from the same sires mated to control dams. The animals belong to three strains of Iberian pigs with different histories of previous inbreeding. The data consisted of 1,615 weight records between 50 and 250 d of age from 229 pigs. The statistical model assumed the two parameters that describe the linear growth function (a = intercept, b = slope) as different traits (weight at 120 d and daily gain) and the analysis was carried out in a Bayesian framework via Gibbs sampling. The means of the posterior distribution of heritabilities, common litter environmental coefficients, and genetic correlation were 0.328 (h(2)a), 0.332 (h2b), 0.084 (c(2)a), 0.060 (c(2)b) and 0.973 (rhoG). Inbreeding depression, expressed as the performance decrease relative to the mean, per 10% increase of the inbreeding coefficient, was -3.18, -2.31 and -5.37% for weight at 120 d (a), and -3.16, -2.08 and -6.49% for daily gain (b) in each of the three strains. The results indicate that the inbreeding effects are dependent on the level of previous inbreeding, the more previous inbreeding, the less inbreeding depression.

Animals↗
PubMed2001

Molecular analysis of Bruton's tyrosine kinase gene in Spain.

Mutations in Bruton's tyrosine kinase (BTK) gene result in X linked agammaglobulinemia (XLA). Using Single Strand Conformation Polymorphism (SSCP) followed by direct sequencing 21 mutations were found in 27 patients with an XLA phenotype from 21 unrelated families. We identified 13 novel and 8 known mutations: seven missense (R288W, R544G, P566S, K430E; K374N, L512P, R544S), 5 nonsense (Q196X, Y361X, L249X, Q612X, Q466X), 2 deletions of one nucleotide (A207fsX216, Q612fsX648), 2 deletion-insertions (V219fsX227, K218fsX228), one insertion of two nucleotides (S572fsX587) and 4 point mutations in donor/acceptor splice sites (g.IVS1+1G>C, g.IVS6+5G>A, g.IVS10+1G>T, g.IVS13-1GG>CT). Carrier detection was performed in 18 mothers. Only in one case the mutation was found to be de novo. Additionally, BTK mutations were not found in four patients without family history, but with XLA-compatible phenotype. Hum Mutat 18:84, 2001.

Agammaglobulinaemia Tyrosine Kinase↗
PubMed2001

Nucleotide sequence analysis of pRS2 and pRS3, two small cryptic plasmids from Oenococcus oeni.

Nucleotide sequence analysis of two cryptic plasmids, pRS2 (2544 bp) and pRS3 (3948 bp), from Oenococcus oeni revealed the presence in both of three major open reading frames with significant similarity to other small cryptic plasmids from O. oeni. The results suggest that those plasmids could be separated into two subfamilies, one represented by pLo13 and pRS3, the other represented by pOg32, pRS1, and pRS2.

Base Sequence↗
PubMed2001

Loss of phosphotyrosine phosphatase activity and changes in the tyrosine phosphorylation state of proteins after storage of sheep platelets in plasma or Seto solution at 4 degrees C.

BACKGROUND AND OBJECTIVES: During platelet storage an array of deleterious changes occur, through mechanisms not fully understood, which impair platelet haemostasis. Transfused platelets should maintain the integrated networks of signalling pathways that regulate platelet activation and functionality. We hypothesized that protein phosphorylation and dephosphorylation, which play a fundamental role in these pathways, might be affected by platelet storage. We therefore investigated whether the activity of phosphotyrosine phosphatase (PTP), which belongs to an oxidant-susceptible group of enzymes involved in the platelet signal-transduction pathways that ensure platelet functionality, is affected by platelet storage. MATERIALS AND METHODS: Using sheep platelet species as a model system, we conducted serial studies on the membranes of platelets and microparticles shed during platelet storage, in their own plasma or in a synthetic medium called Seto, for up to 5 days at 4 degrees C. RESULTS: A progressive decrease in both total and specific membrane-associated PTP activities from whole platelets (but not from microparticles) located within each platelet storage bag was observed from day 1 onwards in both types of storage media. These decreases could be partly avoided by the addition of vitamin E. Additionally, the observed decrease in PTP activity was accompanied with increases in the tyrosine phosphorylation of proteins from whole platelets or crude platelet membranes, the tyrosine phosphorylation state of proteins from microparticles remaining basically unchanged. CONCLUSION: Our findings suggest that alterations of at least the tyrosine phosphorylation balance might be one of the reasons for the decrease in the haemostatic function of stored platelets.

Animals↗
PubMed2000

[Determinant factors of smoking cessation during pregnancy].

BACKGROUND: To investigate sociodemographic factors and smoking habit characteristics associated with spontaneous smoking cessation during pregnancy. DESIGN SUBJECTS AND METHODS: Cross-sectional study including 726 pregnant smoking women who attended the antenatal clinic of the Vall d'Hebron University Hospital in Barcelona between July and December 1997 and who agreed to participate were studied. Information was obtained by a structured questionnaire which included items on age, educational level, marital status, previous and current smoking habit, partner smoking habit and partner's attitude towards the smoking habit of the pregnant woman. RESULTS: At the first antenatal visit, 19.7% of women had given up smoking spontaneously. Light smokers (between 1 and 9 daily cigarettes; OR = 4.74) or moderate smokers (between 10 and 19 daily cigarettes; OR = 2.20) were more likely to stop smoking compared to heavy smokers (more than 20 daily cigarettes). If the partner did not smoke, smoking cessation was more likely among pregnant women (OR = 1.78). At the first antenatal visit, among those women who carried on smoking during pregnancy, there was a significative reduction in cigarette consumption of about half the usual daily number of cigarettes smoked. CONCLUSIONS: One out of five pregnant women give up smoking spontaneously during pregnancy from the moment they know they were pregnant until the first antenatal visit. Women who are less likely to stop smoking during pregnancy are those who smoke a larger number of cigarettes. Family environment is an important influential factor in the smoking habit of the pregnant woman.

Adult↗
PubMed2000

Myeloid mixed chimerism is associated with relapse in bcr-abl positive patients after unmanipulated allogeneic bone marrow transplantation for chronic myelogenous leukemia.

BACKGROUND AND OBJECTIVE: Although bcr-abl polymerase chain reaction (PCR) positivity after bone marrow transplantation (BMT) for chronic myelogenous leukemia (CML) is significantly related to relapse, the predictive value of the assay is not very high and therefore most investigators consider that qualitative RT-PCR data alone are too imprecise to enable clinical decisions to be taken in individual cases. To define the clinical outcome of bcr-abl positive patients after unmanipulated BMT better, we sought the origin of hematopoiesis and traced its evolution over time. DESIGN AND METHODS: Forty-nine patients received allogeneic BMT for CML (39 in chronic phase and 10 in accelerated phase/blast crisis). Median follow-up was 61 months (range 4-92). mRNA and DNA were used to assess bcr-abl and chimerism status respectively. Quantitative VNTR-PCR on total cells and lymphoid or myeloid population allowed us to assign and measure the origin of hematopoiesis. RESULTS: Both bcr-abl positivity and the presence of mixed chimerism (MC) were significantly associated with relapse (p = 0.0009 and p < 0.0001 respectively). Relapse was observed in one of 39 patients with complete donor chimerism and in 6 of 9 patients with MC. These six cases showed increasing levels of host hemopoiesis and bcr-abl positivity in the CD15-positive population prior to relapse. The other three cases had decreasing or stable low-level MC which was restricted to the T-cells as well as bcr-abl negativity. INTERPRETATION AND CONCLUSIONS: Whereas the simple detection of bcr-abl fails to identify patients who will relapse with certainty, the assessment of MC by VNTR-PCR does identify patients headed to relapse. Confirmation of myeloid involvement and increasing levels over time further elucidates the clinical outcome of bcr-abl positive patients after BMT.

Adolescent↗
PubMed1999

[Allelic frequency of the gene of alpha-1-antitrypsin in the general population in a county in Asturias].

BACKGROUND: Severe alpha-1-antitrypsin (ATT) deficiency is an inherited disorder associated with a high risk of developing pulmonary emphysema and several liver diseases. Over 90 different variants of gene which expresses AAT have been described. The commonest defective variants are Z and S. Determination of gene frequencies of abnormal variants is important to estimate the number of subjects at risk of suffering from diseases related with severe AAT deficiency in any given population. POPULATION AND METHODS: In randomly selected general population, we determined the Pi phenotype to 1,116 subjects enrolled in the municipal population register from the high and middle Nalon basins. Mean age of the collective (male, 45%; female, 55%) was 46.2 (SD 29.9) years (range 4-91). AAT serum levels were determined by immunonephelometry. Pi phenotypes were determined by isoelectrofocusing in polyacrilamide gel. RESULTS: The phenotypes found were: PiMM, 857 subjects (22.5%); PiMS, 202 (18.1%); PiMZ, 31 (2.8%); PiSZ, 13 (1.2%); PiZZ, 0 (0.0%); PiMF, 5 (0.4%); Piss, 4 (0.4%); PiMN, 2 (0.2%); PiMB, 1 (0.08%); and PiMV, 1 (0.08%). The allelic frequencies were: PiM, 87.6%; PiS, 9.99%; PiZ, 1.97%; PiF, 0.2%; PiN, 0.09%; PiB, = 0.04%, and PiV, 0.04%. Therefore, the ZZ homozygote prevalence is 1 in 2,557, according to the Hardy-Weinberg principle. AAT serum levels (mg/dl) were: PiMM 147.7 (29.9) (89-296); PiMS 123.8 (22.5) (range 76-222); PiMZ 93.9 (18) (60-146); PiSS 107.5 (14.5) (87-121) and PiSZ 71.2 (12.6) (55-94). CONCLUSIONS: The frequency of Z allele in the analyzed population (19.7 per 1000) is one of the highest in Europe, and in the world. The allelic frequency of S allele (99.9 per 1000) is similar to others found in several regions in the Iberian Peninsula.

Adolescent↗
PubMed1999

Amphiphilic and hydrophilic nature of sheep and human platelet phosphotyrosine phosphatase forms.

To date, although at least 75 different PTPases (protein-tyrosine-phosphate-phosphohydrolase, EC 3.1.3.48) have been identified, those detected in platelets are rather scarce. Based on previous results from our laboratory, we investigated the existence of new PTPases in platelets. Triton X-114 phase partitioning of Triton X-100-solubilized human and sheep platelet membranes allowed PTPase to be recovered in the detergent-rich (40-35%, respectively) and -poor phases (60-65%, respectively). Sedimentation analyses of both phases from the sheep species revealed hydrophilic 6S and 3.7S, and amphiphilic 7.5S and 10.3S PTPase forms. Sedimentation analyses of human platelet membrane-associated or cytosolic PTPase revealed hydrophilic 6.7S and 4.3S, and amphiphilic 5.5S and 10.8S forms, or hydrophilic 4S, 5.9S and 6.9S forms, respectively. Western blot analysis using monoclonal antibodies (MoAb) against human PTP1B, PTP1C, PTP1D and RPTPalpha (mouse anti-human PTPase MoAbs) showed that RPTPalpha was not present in platelets and that the PTP1C type and PTP1D type (but probably not the PTP1B type) were expressed in sheep species. Immunoblots also revealed that all PTPases detected were mainly membrane-associated, with similar percentages of cellular distribution in both species. All PTPases were mainly recovered in the detergent-poor phases from the Triton X-114 phase partitioning, although PTP1D from human species was also significantly present (30%) in the detergent-rich phase. Additionally, all PTPases sedimented within the same PTPase peak in sucrose gradients (sedimentation coefficients around 4S). These findings indicate that amphiphilic and hydrophilic PTPases different from PTP1B, PTP1C, PTP1D or RPTPalpha, with higher sedimentation coefficients and with higher activity when O-phosphotyrosine or a synthetic peptide phosphorylated on tyrosine were used as substrates, are present in platelets.

Animals↗
PubMed1999

Comparison between in vitro lipid peroxidation in fresh sheep platelets and peroxidative processes during sheep platelet ageing under storage at 4 degrees C.

Incubation of sheep platelet crude membranes with xanthine oxidase (XO)/hypoxanthine/Fe(2+)-ADP revealed: (i) a fast peroxidative response - with a maximal linear rate of 14 nmol malondialdehyde (MDA) equivalents/mg protein, as evidenced by the thiobarbituric acid test - and a decrease in the polyunsaturated fatty acid (PUFA) content of the platelet crude membranes; (ii) a decrease in the lipid fluidity in the deep lipid core of the membranes but not at the membrane surface; (iii) a dramatic inhibitory effect on glucose 6-phosphatase (Glc-6-Pase) but not on acetylcholinesterase activity. Platelets were also aged by storage at 4 degrees C in their own plasma or in Seto additive solution. In these media, platelet aggregates were visible and the effects on platelet phospholipids, PUFA, lipid extract fluorescence, crude membrane fluidity and membrane-bound enzyme activities were assessed for comparison with those observed in in vitro lipid peroxidation. The sensitivity of membranes from stored platelets to lipid peroxidation was also assessed. Storage of platelets in plasma for 5 days was associated with different changes in their crude membranes such as decreases in arachidonic acid contents, the decrease not being avoided by the presence of phospholipase A(2) inhibitors, increases in MDA equivalents, conjugated dienes and lipid extract fluorescence, decreases in the amounts of MDA equivalents formed by platelet crude membranes treated with the oxidizing agents, changes in membrane fluidity and inhibition of Glc-6-Pase. All these alterations were less pronounced or even abolished after platelet storage in Seto. These findings suggest that platelet lipid peroxidation due to XO/hypoxanthine/Fe(2+)-ADP and platelet membrane alterations observed after platelet ageing under storage at 4 degrees C share common features. Also, as regards the prevention of peroxidative processes, Seto solution permits better storage of sheep platelets than plasma.

Acetylcholinesterase↗
PubMed1999

Nucleotide sequence analysis of pRS1, a cryptic plasmid from Oenococcus oeni.

A new cryptic plasmid, pRS1, from an Oenococcus oeni strain isolated from Spanish wines is reported. Nucleotide sequence analysis (2523 bp) revealed the presence of three major open reading frames (ORFs) whose nucleotide sequence and encoded proteins exhibit high homology with those of pOg32, a previously described plasmid of O. oeni. Common features in other plasmids from O. oeni (i.e., pLo13 and pOg32) have been found in pRS1. They have three major ORFs in the same strand; the putative encoded proteins by two of these ORFs exhibit homology with the replication (Rep) and the recombination (Pre) proteins, respectively, of the pT181 plasmid family and related gram-positive bacteria plasmids; these plasmids contain the DNA sequences required for plasmid replication by the rolling circle mechanism and for recombination (i.e., double-strand origin, DSO; single-strand origin, SSO; recombination-specific sites, RSA and RSB); and finally, all these plasmids have a third ORF of unknown function. These features suggest that pRS1 could constitute together with pLo13 and pOg32 a family of small cryptic plasmids of O. oeni.

Amino Acid Sequence↗
PubMed1999

Local and systemic responses to iron-dextran injected into a granuloma pouch in the rat.

Many inflammatory processes are accompanied by anemia and repeated hemorrhages, but the local and systemic effect of the iron present in the inflamed area and the availability of this iron are not known. The experimental model used to mimic the above situation was the carrageenan-induced granuloma in rats with simultaneous iron-dextran injection into the granuloma pouch. We studied the effect of iron-dextran on leukocytes from the inflammatory exudate and the location of iron in the granuloma tissue. We also evaluated the systemic responses by studying several iron parameters in blood and in iron-storage organs. The results showed a reduction in the number of leukocytes present in the exudate and a reduction in their viability and also extensive damage to the granuloma tissue, essentially to macrophages, caused by local iron-induced oxidative stress. A small percentage of iron reaches the systemic circulation, and this is eventually stored in the liver and spleen as hemosiderin, which is unlikely to have any effect on anemia. In spite of its local toxicity, the accumulation of iron in inflamed areas can be interpreted as a protective mechanism against systemic oxidative radical reactions induced by iron mobilization.

Animals↗
PubMed1999

Evaluation of the Granada agar plate for detection of vaginal and rectal group B streptococci in pregnant women.

Granada medium was evaluated for the detection of group B streptococci (GBS) in vaginal and rectal swabs compared with selective Columbia blood agar and selective Lim broth. From May 1996 to March 1998, 702 pregnant women (35 to 37 weeks of gestation) participated in this three-phase study; 103 (14.7%) of these women carried GBS. In the first phase of the experiment (n = 273 women), vaginorectal specimens were collected on the same swab; the sensitivities of Granada tube, selective Columbia blood agar, and Lim broth were 31.4, 94.3, and 74.3%, respectively. In the second and third phases (n = 429 women), vaginal and rectal specimens were collected separately; the sensitivities of Granada plate, selective Columbia blood agar, and Lim broth (subcultured at 4 h on selective Columbia agar in the second phase and at 18 to 24 h in Granada plate in the third phase) were 91.1, 83.9, and 75%, respectively, in the second phase and 88.5, 90.4, and 63.5%, respectively, in the third phase. There were no statistically significant differences in GBS recovery between the Granada agar plate and selective Columbia blood agar, but the Granada plate provided a clear advantage; the characteristic red-orange colonies produced overnight by GBS can be identified by the naked eye and is so specific that further identification is unnecessary. The use of the Granada tube and Lim broth did not result in increased isolation of GBS. In conclusion, the Granada agar plate is highly sensitive for detecting GBS in vaginal and rectal swabs from pregnant women and can provide results in 18 to 24 h.

Agar↗
PubMed1999

[Pallidotomy in the treatment of complicated Parkinson's disease: clinical results at two years and analysis of prognostic factors].

BACKGROUND: There is a renewed interest in pallidotomy as a treatment for complicated Parkinson's disease (PD). AIM: To present the clinical results as well as the analysis of prognostic factors obtained in 28 patients with PD and motor complications submitted to pallidotomy and followed by one year (n = 28) and 2 years (n = 12). RESULTS: The total motor score (Unified Parkinson's Disease Rating Scale [UPDRS]) in the off state improved by 33 and 23% at one and two years, respectively (p < 0.01). All the cardinal signs of the disease were significantly improved (p < 0.01): tremor (92%), rigidity (67%), bradykinesia (46%) and axial symptoms (21%). A slight tendency to worsening in axial symptoms was observed. Dyskinesias disappeared in all but one patient. The Schawb & England Scale in off was improved by 21%. No improvement in the non-operated side was observed. The subgroup of patients with an improvement of less than 30% in the UPDRS was older than the one with larger clinical benefit. The observed tendency to worsening in the total motor score was related mainly to the progression of the symptoms in the non-operated side. Complications were mild and transient. CONCLUSIONS: Pallidotomy is a relatively safe and effective therapeutic option for complicated PD patients. An adequate selection of patients is necessary, since efficacy is partial and limited to one hemibody.

Adult↗
PubMed1999

[Pathophysiological bases, clinical results and indications for surgical treatment in Parkinson disease].

We review the present status of surgery for Parkinson's disease. Surgical options for Parkinson's disease are rapidly spanding. The main objectives of surgical techniques are to restore the dopaminergic deficit in the striatum (transplantation) and to normalize the neuronal activity of the subthalamic-pallidal circuit (pallidotomy and deep brain stimulation). Whereas cell transplantation is still considered an experimental procedure, ablative procedures and deep brain stimulation are widely used. Both types of surgical procedures are supported by strong scientific data. However, much work remains to be done in order to understand several aspects not clearly elucidated at present. The results and current indications for pallidotomy and deep brain stimulation are analyzed.

Brain↗