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A García

Publications and source records attributed to A García.

At least 73 records · Page 4Linked to original sources
PubMed2002

Cosegregation of the mitochondrial DNA A1555G and G4309A mutations results in deafness and mitochondrial myopathy.

We report a patient with progressive external ophthalmoplegia (PEO), exercise intolerance, and deafness after aminoglycoside exposure, harboring two pathogenic mutations in her mtDNA: an A1555G in the 12S rRNA gene and a G4309A in the tRNA(Ile) gene. Muscle histochemistry showed abundant ragged-red fibers, and biochemistry revealed normal respiratory chain function. The A1555G mutation was homoplasmic in blood from the proband and from all maternal relatives. The G4309A mutation was abundant in the proband's muscle, less abundant in her blood, still less abundant in the mother's blood, and absent in blood from other maternal relatives. Family members were asymptomatic. Our data suggest that the former mutation resulted in aminoglycoside-induced deafness and the latter caused PEO plus exercise intolerance.

Adult↗
PubMed2002

Hospitalization of patients with anorexia nervosa: a therapeutic proposal.

Anorexia nervosa is an eating disorder that primarily affects young women and has a high morbidity and mortality rate. Hospitalization effectively overcomes the acute phase, prevents progression to chronicity and promotes lasting changes. Our aim is to establish a prior therapeutic contract and systematize hospitalization in three stages comprising: clinical and nutritional approaches, individual and group psychotherapy, family therapy, occupational therapy, body therapy and pharmacotherapy. Because of the multiple determination of anorexia nervosa and the risk involved, treatment must be carried out by a multidisciplinary team.

Adult↗
PubMed2002

Telemedicine as a tool for intensive management of diabetes: the DIABTel experience.

This paper presents the current features of the DIABTel telemedicine system and the evaluation outcomes of its use in clinical routine. This telemedicine system is designed to complement the daily care and intensive management of diabetic patients through telemonitoring and telecare services. The system comprises a patient unit (PU) used by patients in their day-to-day activities and a Medical Workstation used by physicians and nurses at hospitals. Both applications offer tools to collect, manage, view and interpret data and to exchange data and messages. The system was evaluated for usability, telemedical protocols, metabolic control and quality of life. This evaluation consisted in a 6-month cross-over pilot study with ten Type I diabetic patients. The results of the evaluation allowed assessment of the telemedicine protocols in terms of the number of communications/patient (21.6+/-7.7); days between communications (5.4+/-2.66); messages sent by physicians (118 text messages); and data and messages transmitted by patients (3524 blood glucose readings, 1649 day-to-day insulin adjustments, 24 exercise reports, ten diet modifications and 63 text messages). Physicians performed more therapeutic changes during the DIABTel period than in the control period. There was a trend towards HbA1c improvement during DIABTel use with no incidence in the number of hypoglycaemias. This pilot study demonstrates the feasibility of the DIABTel system in clinical routine use and its potential benefits for diabetes care: improving the availability of information necessary for therapy adjustments; offering new physician-patient communication tools; increasing patient empowerment and education; and showing a positive trend towards improving the metabolic control of patients. Further studies are needed to validate these findings and to promote telemedicine as an opportunity to better diabetes care.

Cross-Over Studies↗
PubMed2002

Association of the CTLA4 3' untranslated region polymorphism with the susceptibility to rheumatoid arthritis.

Cytotoxic T-lymphocyte antigen 4 (CTLA4) gene polymorphism located in the 3' untranslated region (UTR) was investigated in 141 Spanish patients (38 men and 103 women) with rheumatoid arthritis (RA) and in 194 ethnically-matched healthy controls. Twenty alleles having different numbers of (AT) repeats (from 7 to 32) were found in this population. (AT)7 and (AT)16 were the most frequent alleles, and accounted for almost two-thirds of the allelic frequency in the control population. Consequently, alleles were assigned as L (large: 16 or more AT repeats) or S (short: less than 16 AT repeats). When the L/S distribution in patients and controls were compared, an increase of L alleles was observed among patients (49.9% vs. 39.7%; p = 0.02; p(c) = 0.04, odds ratio [OR] = 1.46; 95% confidence interval [CI], 1.06-2.01). Hence, the frequency of S alleles was decreased among patients (51.1% vs. 60.3%; p = 0.02; p(c) = 0.04; OR = 0.69; 95%CI, 0.50-0.95). Moreover, a statistically significant decrease in the frequency of S/S individuals was observed among RA patients (27.7% versus 40.7%; p = 0.01; p(c) = 0.03; OR = 0.56; 95%CI, 0.34-0.91). These differences were irrespective of the HLA "shared epitope" (SE) status, and were observed similarly among SE+ as well as among SE- patients. After combining these data with other reported previously by us, from studies of CTLA4 49 (A/G) and -318 (C/T) polymorphisms, we conclude that the strongest association between CTLA4 gene polymorphisms and RA susceptibility occurs with the 3' UTR polymorphism.

3' Untranslated Regions↗
PubMed2002

Association of NRAMP1 promoter gene polymorphism with the susceptibility and radiological severity of rheumatoid arthritis.

The natural resistant-associated macrophage protein 1 (NRAMP1) has been proposed as a candidate gene for the susceptibility to autoimmune diseases. In this study, the possible role of the functional polymorphism located at the promoter region of NRAMP1 gene in the susceptibility and clinical outcome of rheumatoid arthritis (RA) was investigated. A total of 141 Spanish RA patients and 194 controls previously typed for HLA-DRB1* were genotyped for the NRAMP1 polymorphism. No significant differences in the distribution of frequencies among RA patients and controls were observed. Nevertheless, when patients and controls were stratified according to their HLA shared epitope (SE) status, an increase of 2/2 genotype among SE-negative (SE-) patients with respect to SE- controls was observed (23% vs 7%, OR = 3.74, 95% CI 1.31-10.72). In addition, the possible role of this polymorphism in the clinical course of RA was investigated in a subgroup of 82 patients who were prospectively followed during a mean of 9 years. After follow-up, an increase of patients with the homozygous 2/2 genotype was detected among those with severe small joint radiological involvement: 73% of patients 2/2 had a severe form in contrast to 37% of patients with the genotype 2/3 and 30% of patients bearing 3/3 OR = 5.45, 95% CI 1.14-34.24). In conclusion, NRAMP1 gene promoter polymorphism could influence the radiological severity of rheumatoid arthritis and disease susceptibility, particularly in individuals lacking HLA-linked risk factors.

Arthritis, Rheumatoid↗
PubMed2002

Hepatobiliary inflammation, neoplasia, and argyrophilic bacteria in a ferret colony.

Hepatobiliary disease was diagnosed in eight of 34 genetically unrelated cohabitating pet ferrets (Mustela putorios furo) during a 7-year period. The eight ferrets ranged in age from 5 to 8 years and exhibited chronic cholangiohepatitis coupled with cellular proliferation ranging from hyperplasia to frank neoplasia. Spiral-shaped argyrophilic bacteria were demonstrated in livers of three ferrets, including two with carcinoma. Sequence analysis of a 400-base pair polymerase chain reaction product amplified from DNA derived from fecal bacteria from one ferret demonstrated 98% and 97% similarity to Helicobacter cholecystus and Helicobacter sp. strain 266-1 , respectively. The clustering of severe hepatic disease in these cohabitating ferroes suggests a possible infectious etiology. The role of Helicobacter species and other bacteria in hepatitis and/or neoplasia in ferrets requires further study.

Animals↗
PubMed2002

[Percutaneous intrahepatic portosystemic shunting as a treatment for refractory hepatic hydrothorax].

Hepatic hydrothorax is an infrequent complication of portal hypertension in liver cirrhosis. Treatment with saline restriction and diuretics is usually effective but when this fails, the therapeutic approach is difficult and multiple complications occur. Transjugular percutaneous intrahepatic portosystemic shunt (IPS) is associated with a marked decrease in portal pressure and consequently this technique has been used in the treatment of refractory ascites. The aim of this study was to analyze the efficacy, safety and outcome of refractory hepatic hydrothorax treated by IPS. The procedure was performed in 5 patients who were all grade B or C in the Child-Pugh classification. Three patients showed complete response to the treatment, of whom 1 underwent transplantation 20 days later. The fourth patient showed partial response with a reduction in the need to perform thoracocentesis and the fifth patient showed no response to IPS and died after 17 days of follow-up. Albumin levels and Child classification remained unchanged. Two patients presented recurrence with reappearance of hydrothorax due to shunt dysfunction and 2 patients presented hepatic encephalopathy that responded to medical treatment. Refractory hepatic hydrothorax can be controlled by IPS in a large number of patients but its efficacy is restricted by shunt dysfunction, the risk of encephalopathy and by its limited effect on survival.

Aged↗
PubMed2002

Aerosol orgotein (Ontosein) for the prevention of radiotherapy-induced adverse effects in head and neck cancer patients: a feasibility study.

Orgotein is an anti-inflammatory superoxide dismutase agent successfully used in treating several inflammatory diseases. It is also used in treating radiation-induced adverse effects in difference malignancies, notably breast, lung, bladder, prostate, cervix, and head and neck cancers. It is administered either topically or parenterally. To our knowledge, it has never been used before for prophylaxis of radiation-induced adverse effects or in aerosol form. Here we report on the results from a feasibility study on aerosol orgotein (Ontosein) for prevention of acute and deferred radiation-induced adverse effects in patients treated for head and neck malignancies. Our results show that aerosol orgotein administered before each radiation therapy session may impart some benefits in both incidence and severity of acute and deferred radiation-induced adverse effects in head and neck cancer patients, when compared with historical controls. In addition, aerosol orgotein administration is easy and convenient for both the patient and the radiotherapist.

Adult↗
PubMed2002

[Foam cell nephropathy in heterozygous female with Fabry's disease].

We describe the clinical and pathological characteristics of a 49 year-old heterozygous female carrier of Anderson-Fabry's disease. Light microscopy and ultrastructural study of a renal biopsy showed the presence of foam cell nephropathy and galactosylceramide deposits affecting podocytes, the parietal epithelium of Bowman's capsule and the distal tubular cells, endothelial cells and medullary interstitial elements. Retrospectively, the presence of storage disease was confirmed in a hysterectomy specimen obtained two years previously. Our observation shows that heterozygotes for this disorder can not only carry and transmit the disease but may also develop pathological deposits in various organs. A renal biopsy from these carriers allows precise identification of the disease, facilitates adequate genetic counseling and gives the option of enzyme replacement therapy in patients who have pathological deposits.

Fabry Disease↗
PubMed2002

[Comparison of three genotyping methods for the detection of HIV-1 resistance to antiretroviral drugs].

Highly active antiretroviral therapy has dramatically improved the life expectancy of human immunodeficiency virus (HIV)-infected patients, but mutations in the HIV-1 reverse transcriptase (RT) and protease (P) genes confer drug failure. Evaluation of drug resistance genotyping in HIV-1 has proven to be useful for the selection of drug combinations with maximum antiretroviral activity. The aim of this study was to evaluate the optimal procedure to determine the resistance profile in the laboratory. Plasma from 90 antiretroviral-treated patients was analyzed by reverse hybridization, which identifies the presence of wild-types or mutations at the 19 key codons for protease and RT regions, and was compared with two other methods of direct cDNA sequencing. A total of 408 mutations were detected by InnoLiPA HIV-1, (Line Probe Assay, Innogenetics, Belgium), 572 by TrueGene HIV-1 Genotyping System (Visible Genetics, Canada), and 721 by ViroSeq HIV-1 Genotyping System (Perkin Elmer/Applied Biosystems, California). Hybridization detected a significantly higher number of primary mutations which are associated with a high level of drug resistance (p <0.001). Hybridization also detected a higher number of mixtures of wild-type and mutant viruses. There was a good concordance among the three methods, although it was higher between the two sequencing methods. Sequencing determines a higher number of mutations, but hybridization better identifies primary mutations correlated with a high level of drug resistance. Hybridization is more suitable for detecting mixed populations and is easier to implement in clinical laboratories but does not eliminate the need for sequence analysis for detection of drug-resistant HIV.

Anti-HIV Agents↗
PubMed2001

Interleukin-1beta stimulates cyclic GMP efflux in brain astrocytes.

In rat brain astroglia-enriched cultures long-term treatment with interleukin-1beta induces NO release and stimulation of soluble guanylyl cyclase. The cGMP formed is recovered in the extracellular medium but not in the cell monolayer. The interleukin-1beta effect is mediated by type I receptor and potentiated by interferon-gamma. In cells treated with bacterial endotoxin a larger NO-dependent cGMP accumulation occurs only intracellularly, however a significant cGMP egression is observed when cells are co-treated with interleukin-1beta. The non-selective anion transport inhibitors probenecid and verapamil block cGMP efflux, indicating that interleukin-1beta stimulates a cGMP transporter.

Animals↗
PubMed2001

Detection of unsuspected cases of nosocomial transmission of tuberculosis by use of a molecular typing method.

The aim of this study was to use restriction fragment length polymorphism to detect unsuspected cases of nosocomial transmission of tuberculosis (TB) among patients who had been admitted to a university hospital. One hundred fifty-one samples of Mycobacterium tuberculosis isolated from patients with pulmonary TB were studied. The isolates from 37 patients (24.5%) defined 11 clusters. None of the patients infected with these cluster isolates had hospital stays that coincided with one another, and for 5.4% of the patients, the epidemiological link was clearly outside the hospital. Previous incarceration was associated with infection with cluster isolates. In addition, 109 patients without TB (41 of whom were infected with human immunodeficiency virus) who shared a room with patients who had TB were followed for 18-60 months. Among the patients who survived, secondary cases of TB due to nosocomial transmission were not detected.

Adult↗
PubMed2001

[What lines of action should the Valencia Society of Family and Community Medicine adopt over the next 4 years?].

OBJECTIVE: To identify the areas of activity in which the Valencia Society of Family and Community Medicine (SVMFyC) should become involved over the next four years. DESIGN: Qualitative research.Setting. SVMFyC members. PATIENTS AND OTHER PARTICIPANTS: 27 experts belonging to the SVMFyC took part. INTERVENTIONS: Qualitative consensus-seeking techniques. Reliability and validity of the technique were ensured through triangulation and the selection of experts from among the different professional groups within the SVMFyC. MEASUREMENTS AND MAIN RESULTS: To determine the recommended lines of action, productivity, spontaneous representativity, intensity of recommendation and degree of agreement were analysed. The priority lines recommended were: defending the MIR path, proposing reforms in undergraduate study plans, watching over the transparency of job selection procedures and the annual OPE selection, promoting the professional degree course, creation of posts for teachers in family and community medicine, defining the size of the population registered with a doctor, proposing an incentives list and studying alternatives to uniform salaries in the form of target-linked remuneration. CONCLUSIONS: The lines of action recommended by the experts were established.

Community Medicine↗
PubMed2001

Bcl-2 targets protein phosphatase 1 alpha to Bad.

The diverse forms of protein phosphatase 1 (PP1) in vivo result from the association of the catalytic subunit with different regulatory subunits. We recently have described that PP1alpha is a Ras-activated Bad phosphatase that regulates IL-2 deprivation-induced apoptosis. With the yeast two-hybrid system, GST fusion proteins, indirect immunofluorescence, and coimmunoprecipitation, we found that Bcl-2 interacts with PP1alpha and Bad. In contrast, Bad did not interact with 14-3-3 protein. Bcl-2 depletion decreased phosphatase activity and association of PP1alpha to Bad. Bcl-2 contains the RIVAF motif, analogous to the well characterized R/KXV/IXF consensus motif shared by most PP1-interacting proteins. This sequence is involved in the binding of Bcl-2 to PP1alpha. Disruption of Bcl-2/PP1alpha association strongly decreased Bcl-2 and Bad-associated phosphatase activity and formation of the trimolecular complex. These results suggest that Bcl-2 targets PP1alpha to Bad.

Amino Acid Sequence↗
PubMed2001

Dramatic changes in the magnetic coupling mechanism for La-doped CaMnO3.

The exchange interactions in polycrystalline samples of Ca1-xLaxMnO3 (0.00< or =x< or =0.05) are studied by means of Raman scattering and electron paramagnetic resonance. Dramatic reductions in the spin-phonon interactions and magnetic correlations are observed for La doping levels as small as approximately 2%-3%. These results show that the charge carriers play an important role in the overall exchange coupling in the electron-doped manganites, even at very low doping levels.

Journal Article↗