Severe hepatitis in a newborn with coxsackievirus B5 infection.
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Anti-Bacterial Agents↗
Biomedical subjects
B Martinez
Publications and source records attributed to B Martinez.
A survey of fragile X syndrome in a sample from Spanish Basque country.
Fragile X syndrome is the most common inherited form of mental retardation. The syndrome is associated with a CGG repeat expansion in the 5'UTR of the first exon of the FMR1 gene. This gene maps to Xq27.3 and coincides with the cytogenetic fragile site (FRAXA). The present study deals with the prevalence of fragile X syndrome among individuals with mental retardation of unknown cause from institutions and special schools from the Spanish Basque Country. Results of cytogenetic and molecular studies, performed in a group of 134 unrelated individuals (92 males and 42 females) are presented. The cytogenetic marker at Xq27.3 was identified in 12 patients. Other chromosomal abnormalities were found in two cases that this and previous studies confirmed as Angelman and Prader-Willi syndromes. Two males, in whom the cytogenetic marker was identified, were found negative for FRAXA and FRAXE expansion at the molecular level. The present study shows that the frequency of the FRAXA full mutation in individuals of Spanish non-Basque origin is in the range of other Spanish populations. In the sample of Spanish Basque origin we have not found cytogenetic FRAXA site expression, and the CGG repeat size of FMR1 gene is in the normal range. The significance of these results are discussed.
Adolescent↗
Stability of the FMR1 CGG repeat in a Basque sample.
The fragile X syndrome is an X-chromosome-linked dominant disorder with reduced penetrance. It is the most common inherited form of mental retardation. The molecular basis is usually the unstable expansion of a CGG trinucleotide repeat in the 5' untranslated region of the first exon of the FMR1 gene, which resides at chromosome position Xq27.3 and is coincident with the cytogenetic fragile site FRAXA, which characterizes the syndrome. In the Biscay province of the Basque Country the prevalence of FRAXA in a mentally retarded sample of non-Basque origin is in the range of other analyzed Spanish populations. In the sample of Basque origin we have not found FRAXA site expression and the repeat size is in the normal range. Based on this, we have examined FMR1 gene stability in normal individuals of Basque origin from the Biscay province. This study is based on a sample of 242 X chromosomes. The results from the CGG repeat region of FMR1 indicate that a prevalence of predisposing normal alleles toward repeat instability in the Basque population is 0.00% or near to it. This could be 1 of the explanations of the apparently low fragile X syndrome incidence found in the Basque mentally retarded sample analyzed by us. This low incidence does not seem to be associated with the flanking microsatellite markers.
Analysis of Variance↗
Lactic acid bacteria as antigen delivery vehicles for oral immunization purposes.
In vaccination programmes in which large numbers of subjects are involved, the oral route of administration is more convenient as compared to the more frequently used parenteral route. This is particularly relevant when vaccines are to be applied in less industrialized countries. Lactic acid bacteria in general and strains of Lactobacillus in particular have a variety of properties which make them attractive candidates for oral vaccination purposes, e.g. GRAS status, adjuvant properties, mucosal adhesive properties and low intrinsic immunogenicity. An overview is given of current research aimed at unravelling the relationship between structure and properties of surface proteins of lactobacilli and in vivo colonization, in particular of species capable of adhering to epithelial cells in vitro. Secondly, the state of the art will be discussed with respect to antigen presentation by lactic acid bacteria. Finally, some preliminary immunological data of recombinant lactic acid bacterial strains expressing antigens from pathogens will be presented.
Administration, Oral↗
Prospective study of morphologic and functional changes with time in the mucosa of the ileoanal pouch: functional appraisal using transmucosal potential differences.
PURPOSE: This study was undertaken to investigate the morphologic and functional changes with time in the mucosa of the ileoanal pouch. METHODS: A morphologic study by histopathologic analysis, mucosal morphometry, and mucin histochemistry and a functional study by analysis of transmucosal potential difference were performed in 27 patients with an ileoanal J-pouch after restorative proctocolectomy for ulcerative colitis. In 19 patients with a normal ileoanal pouch, two prospective follow-up analyses were performed after median functional pouch times of 14 and 39 months. We also evaluated eight patients with the diagnosis of pouchitis (median follow-up, 52.5 months). RESULTS: In the normal ileoanal pouch group, some degree of chronic and acute inflammatory infiltration was identified in 100 percent and 63.2 percent of cases, respectively, with no significant differences being observed between the two follow-up analyses. The mean villous atrophy index at the first and second follow-up was 0.54 and 0.52, respectively, significantly lower (P < 0.001; an indication of a greater degree of villous atrophy) than the value obtained from the control group with a healthy terminal ileum (0.77). The group of patients with pouchitis exhibited statistically significant differences in the degree of acute and chronic inflammatory infiltration, the extent of ulceration, the crypt depth, and the villous atrophy index, compared with patients without pouchitis. In the normal ileoanal pouch group, the median percentage of sulfomucin with each degree of atrophy (1=mild; 2=moderate; and 3=severe) was 2.6, 4.5, and 20.9 percent, respectively. In patients with pouchitis, the median percentage of sulfomucin was 5.9 percent. The mean transmucosal potential difference at the first follow-up (-25.3 mV) was significantly lower (P=0.001) than at the second (-30.4 mV). Significant differences were apparent with respect to both the normal ileum (-8.9 mV) and the normal rectum (-40.2 mV). CONCLUSION: These results suggest that the ileal pouch behaves as a neorectum, with different degrees of colonic metaplasia from a morphologic and a functional perspective.
Adult↗
Effects of fluoxetine versus bright light in the treatment of seasonal affective disorder.
BACKGROUND: Disturbances of serotonergic neurotransmission appear to be particularly important for the pathophysiology of winter depression. This study investigated whether fluoxetine has antidepressant effects comparable to bright light in the treatment of seasonal affective disorder (winter type). METHOD: A randomized, parallel design was used with rater and patients blind to treatment conditions. One week of placebo (phase I) was followed by 5 weeks of treatment (phase II) with fluoxetine (20 mg per day) and a placebo light condition versus bright light (3000 lux, 2 h per day) and a placebo drug. There were 40 patients (20 in each treatment condition) suffering from seasonal affective disorder (SAD) according to DSM-III-R who had a total score on the Hamilton Depression Scale of at least 16. RESULTS: Forty patients entered phase II and 35 completed it (one drop-out in the fluoxetine group and four in the bright light group). Fourteen (70%) of the patients treated with bright light and 13 (65%) of those treated with fluoxetine were responders (NS). The remission rate in the bright light group tended to be superior (bright light 50%, fluoxetine 25%; P = 0.10). Light therapy improved HDRS scores significantly faster, while fluoxetine had a faster effect on atypical symptoms. Light treatment in the morning produced a significantly faster onset of improvement, but at the end of treatment the time of light application seemed not to be crucial. CONCLUSION: Both treatments produced a good antidepressant effect and were well tolerated. An apparently better response to bright light requires confirmation in a larger sample.
Adult↗
The atrazine catabolism genes atzABC are widespread and highly conserved.
Pseudomonas strain ADP metabolizes the herbicide atrazine via three enzymatic steps, encoded by the genes atzABC, to yield cyanuric acid, a nitrogen source for many bacteria. Here, we show that five geographically distinct atrazine-degrading bacteria contain genes homologous to atzA, -B, and -C. The sequence identities of the atz genes from different atrazine-degrading bacteria were greater than 99% in all pairwise comparisons. This differs from bacterial genes involved in the catabolism of other chlorinated compounds, for which the average sequence identity in pairwise comparisons of the known members of a class ranged from 25 to 56%. Our results indicate that globally distributed atrazine-catabolic genes are highly conserved in diverse genera of bacteria.
Atrazine↗
Clinical outcome in diffuse large B-cell lymphoma is dependent on the relationship between different cell-cycle regulator proteins.
PURPOSE: The goal of this work was to perform a comprehensive exploration of the relationship between the clinical outcome of diffuse large B-cell lymphoma (DLBCL) and the expression of a panel of tumor suppressor and oncogenic proteins, which includes some cell-cycle regulator proteins involved in the p53 pathway. PATIENTS AND METHODS: To this end, we collected the clinical data of 141 patients with DLBCL and immunohistochemically analyzed diagnostic tumoral tissue from each patient for the presence of Ki67 (MIB1, Immuno-tech, Marseille, France), bcl2, p53, p21/WAF1, MDM2, and retinoblastoma (Rb) proteins. RESULTS: The results show that several proteins are associated with some of the clinical traits analyzed. Multivariate analysis showed that an extended overall survival (OS) time was associated with low growth fraction, high Rb protein, and low MDM2 expression, as well as with known clinical parameters. The probability of inducing a complete remission (CR) was only associated with clinical parameters, although univariate study showed that a low growth fraction was associated with a higher probability of inducing a CR. Univariate study of disease-free survival (DFS) showed that tumors with high bcl2 expression and nodal origin have a shorter DFS time, although multivariate study only confirmed the adverse effect of bcl2 expression. CONCLUSION: Taking all these results into consideration, it seems that although the overall outcome for patients with DLBCL is decided by a combination of different clinical and biologic variables, the expression of some of these cell-cycle regulator proteins appears to be specifically associated with the different clinical features of tumors.
Adolescent↗
[Central lipoma of the mandible. A new case].
Lipomas are benign neoplasms affecting many organs of the body with adipose tissue. As a bone central lesion they represent less than 1% of all lipomas. In the literature lipomas are reported in different bones: calcaneum, ribs, fibula, phalanges, ulna, frontal and parietal bone. In the jaws 8 cases have been reported, most of them representing radiographic findings the clinician diagnosing cyst or tumor, specially odontogenic tumor. No preference has been reported for any gender, age or race but the condition appears after the fourth decade. We report a case of central lipoma in the mandible with the clinical, radiological and histopathological findings and discuss its origin.
Adipose Tissue↗
UFT modulated with leucovorin in advanced colorectal cancer: Oncopaz experience.
A phase II trial of UFT (Tegafur and Uracil) modulated by leucovorin was undertaken by the Oncopaz Cooperative Group to assess the efficacy and toxicity of this combination in patients with advanced colorectal cancer. A total of 75 patients were given 500 mg/m2 intravenous leucovorin and 195 mg/m2 of oral UFT on day 1, followed by oral leucovorin 15 mg/12 h and 195 mg/m2/12 h of oral UFT on days 2-14. An overall response rate of 39% was obtained, with seven complete responses (9%), and 22 partial responses (29%). The primary toxicity was gastrointestinal, with grade 1-2 diarrhea occurring in 8.5% of courses, and grade 3-4 in 3.5%. Hematologic toxicity was minimal, and there were no deaths due to toxicity. This regimen was active and well tolerated in patients with advanced colorectal cancer, including those 70 years of age or older.
Antineoplastic Combined Chemotherapy Protocols↗
Cloning and IgE binding of a recombinant allergen from the mite Blomia tropicalis, homologous with fatty acid-binding proteins.
To characterize the allergens of Blomia tropicalis, a cDNA library was constructed and screened with allergic sera from asthmatic patients. One clone, Bt6, was subcloned and sequenced. The nucleotide sequence of 934 bp length shows a 390-bp reading frame which encodes a 130-amino acid protein with a MW 14.8 kD. No potential glycosylation site was found in the predicted protein. The inferred amino acid sequence has no homology to known allergens. It has a cytosolic fatty acid-binding protein (FABP) signature at 5-22 amino acid residues, 42.3% identity with the Sm14-FABP of Schistosoma mansoni and 36% identity with FABPs from rat, mouse, bovine and human. The protein was expressed as a GST fusion protein and the purified GST-Bt6 used for dot blot, RAST and RAST inhibition assays. The frequency of IgE binding of allergic sera to Bt6 was low (11%) and usually weak. One positive serum did, however, show strong reactivity by RAST and dot blot and Bt6 could inhibit 60% of the IgE binding of this serum to the B. tropicalis extract. These data show that Bt6 encodes a mite FABP with allergenic properties, which are pronounced in some atopic subjects.
Allergens↗
Angelman syndrome caused by loss of a marker chromosome: cytogenetic and fluorescence in situ hybridization analysis.
We report a cytogenetic and fluorescence in situ hybridization study of a family in which a female child showed all the main characteristics of Angelman syndrome. Her karyotype revealed a translocation between chromosomes 5 and 15 with a partial deletion from 15pter to the Angelman region. Several members of her family appeared to be carriers of the same translocation, but showed no symptoms. The karyotypes showed a marker chromosome, that was not present in the female with Angelman syndrome. Fluorescence in situ hybridization revealed that the marker chromosome corresponded to material from chromosome 15. The present study is in agreement with the suggestion that genomic imprinting is one of the mechanisms involved in Angelman syndrome.
Angelman Syndrome↗
Study of a trimeric tandem repeat locus (SBMA) in the Basque population: comparison with other populations.
Microsatellites can be highly unstable and show a high level of polymorphism between individuals. Here we present the analysis of the CAG trinucleotide repeat polymorphism at the SBMA locus in 57 phenotypically normal individuals rigorously assigned to the Spanish Basque population. Results are compared with 100 Spanish non-Basque individuals who were already analyzed by us (175 alleles). This is the first study undertaken in these populations for this marker. In addition, we compared our results with those published for other populations. Relative allele frequencies showed differences between the samples and no unimodal distribution. The expected heterozygosity in the Basque sample was slightly lower than in the non-Basque sample. Conformity with Hardy-Weinberg equilibrium was verified by three tests. When compared with published data, the predominant alleles appear to be the same in the various populations. There are more differences between Basques and other Caucasoid samples than between non-Basques and Caucasoid samples. Population relationships were also examined by dendrograms based on genetic distances. The results obtained showed some peculiarities in the Basque population. The high degree of similarity with other dendrograms based on different markers and the efficiency of this STR marker in differentiating closely related populations, support the potential usefulness of microsatellites as tools for human population studies.
Ethnicity↗
Autosomal folate sensitive fragile sites in an autistic Basque sample.
The autosomal folate-sensitive fragile sites (FS) expression has been analyzed in an autistic children sample and in a control sample. The results obtained have proved that there is a higher frequency of expression of fragile sites in autistic children than in the control sample. The differences are statistically significant. The sex differences level is similar in both groups in relation to fragile sites expression. Three rare fragile sites, 2q13, 6p23, 12q13, are only expressed in autistic individuals. The meaning of these results have been discussed.
Adolescent↗
The influence of BCG immunization on tuberculin reactivity in healthy Chilean women in the third trimester of pregnancy.
SETTING: Tuberculin testing is an accepted method for screening pregnant women for tuberculosis. The interpretation of tuberculin reactivity in bacillus Calmette-Guerin (BCG)-immunized pregnant women is still in debate. OBJECTIVE: Four related issues were addressed: (1) The effect of pregnancy on tuberculin reactivity; (2) the effect of age differential on tuberculin reactivity; (3) the effect of repeated immunization with BCG; and (4) the risk of developing tuberculosis during pregnancy or a 3-year post-partum period. DESIGN: We performed tuberculin testing in 840 healthy Chilean women in the 32nd to 34th week of pregnancy; 807 had been immunized with 1 or more doses of BCG. There were 3 age groups: 177 were < or = 19 years old, 534 were 20-29 years old, and 129 were > or = 30 years old. All women in the study were followed at least 3 years post-partum. RESULTS: Women < or = 19 years old and non-pregnant women of similar age studied in the same geographical area had a similar distribution of the size of tuberculin reactions. Over 50% of all BCG-immunized women in each group had tuberculin reactions > or = 10 mm. A differential effect of different doses of BCG was significant only in 20- to 29-year-old women. None of the women in this study developed tuberculosis during pregnancy or a 3-year post-partum observation period. CONCLUSIONS: Healthy, BCG-immunized pregnant women may have positive tuberculin reactions without having an increased risk for tuberculosis. The incidence of tuberculosis and the BCG immunization status need to be considered in the development of policy recommendations for diagnosis and treatment of Mycobacterium tuberculosis infection in pregnant women.
Adult↗
Genetic instability of microsatellites in hematological neoplasms.
Genetic instability has been recently related to point mutations on genes involved in DNA repair pathway of errors produced during replication. These molecular alterations have been described in hereditary and sporadic colon carcinomas and related tumors. To examine genetic instability on lympho- and myeloproliferative processes, we analyzed the behaviour of 10 microsatellite markers and one VNTR on different chromosomes in 10 patients with non-Hodgkin lymphomas (NHL), one patient with acute lymphoblastic leukemia (ALL) and 10 patients with acute myeloid leukemia (AML). Mobility shifts were found in three of those cases. One of them showed genetic instability for several markers--microsatellites and VNTR- and the other two showed differences for only one marker. As a correlation between point mutations in MSH2 gene and the presence of genetic instability in hereditary non-polyposis colon cancer (HNPCC) and related tumors has been found, we analyzed the sequence of a conversed region of this gene in the cases showing this phenomenon. We only found a polymorphism, previously described, in 669 codon from cDNA.
Burkitt Lymphoma↗
a-b ridge count in a Basque population: fluctuating asymmetry and comparison with other populations.
We have analyzed the a-b ridge count and its fluctuating asymmetry in a sample (331 males and 290 females) from the Basque region of Alava province, Spain. Significant bimanual differences in the a-b ridge count are apparent only for females, and the sexual differences are significant for both hands. A comparison of the results in the Alava Basque population with results for other Basque populations showed sexual dimorphism. The results for fluctuating asymmetry do not support the hypothesis that if the regression of fluctuating asymmetry on the right and left hands is quadratic, the fluctuating asymmetry is a result of developmental homeostasis. Our data seem to indicate also that the factors that determine the a-b ridge count are canalized in females and males in the same way.
Analysis of Variance↗
p53 and bcl-2 expression in high-grade B-cell lymphomas: correlation with survival time.
B-cell high-grade lymphomas are heterogeneous in terms of histology, clinical presentation, treatment response and prognosis. As bcl-2 and p53 gene deregulations are frequently involved in several types of lymphoid malignancies, we aimed our investigation at the study of the relation between bcl-2 and p53 expression and survival probability in a group of 119 patients with B-cell high-grade lymphoma. These were obtained from the Virgen de la Salud Hospital, Toledo, Spain (73 cases), John Radcliffe Hospital, Oxford, UK (31 cases), and the Istituto Nazionale dei Tumori, Milan, Italy (15 cases). The relation between bcl-2 protein expression and survival was small, depending on the primary localisation of the tumour (in lymph node of mucosae), and lacked a significant correlation with overall survival. In contrast with this, p53 expression was related to survival probability in our series, this relation being both significant and independent of histological diagnosis. p53-positive patients showed a sudden decrease in life expectancy in the first months after diagnosis. Multivariant regression analysis confirmed that the only parameters significantly related with survival were extranodal origin, which is associated with a better prognosis, and p53 expression, which indicates a poor prognosis. Simultaneous expression of bcl-2 and p53 was associated with a poorer prognosis than p53 alone. This is particularly significant for large B-cell lymphomas presenting in lymph nodes. The cumulative poor effect of both p53 and bcl-2 in large B-cell lymphomas, which is more significant in nodal tumours, could confirm the existence of a multistep genetic deregulation in non-Hodgkin's lymphoma. This indicates that the genetic mechanisms controlling apoptosis and their disregulation are critical steps in the progression of lymphomas.
Humans↗