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Biomedical subjects

J M Sánchez

Publications and source records attributed to J M Sánchez.

At least 19 recordsLinked to original sources

[Risk factors in experimenting with and consumption of tobacco by 12-14 year-old school students. Attitudes to tobacco in pressure groups].

INTRODUCTION: Tobacco is the first addictive substance that adolescents and school-children have contact with. The presence of family members and friends as smokers in their environment is related to tobacco experimentation. OBJECTIVES: To describe experimentation and consumption of tobacco in secondary school students (ESO); to identify the attitudes related to smoking; and to study the relationship between smoking by family members, friends and teachers and students' own experimentation and consumption. METHODS: Observational, prospective study at the "Los Cantos" secondary school, Bullas, Murcia, Spain. POPULATION: students from the first, second and third years of ESO, analysed in December 2000 and 2001. The variables studied were collected with the FRISC questionnaire. RESULTS: The population had 529 students, 293 of them boys, with average age 13.2. A total of 328 had smoked sometime (62%) and 19.1% smoked habitually. Attitudes related with smoking were: "smoking makes you feel better" (P<.001), "smoking is fun" (P<.001), "smoking helps to make friends" (P<.001) and "I'd accept a cigarette from a friend" (P<.001). Tobacco experimentation was related to friends/companions smoking (OR=2.402; 95% CI, 1.591-3.628), to the presence of a mother and older siblings smoking (OR=2.703; 95% CI, 1.574-4.642), and to the presence of friends/companions smoking (OR=6.342; 95% CI, 3.102-12.964). CONCLUSION: Experimentation and consumption of tobacco in the population studied is very high. The most important risk factors for students smoking are the conduct of friends and of older siblings.

Adolescent↗

NARP-MILS syndrome caused by 8993 T>G mitochondrial DNA mutation: a clinical, genetic and neuropathological study.

The 8993 T>G mutation in mitochondrial DNA has been associated with variable syndromes of differing severity ranging from maternally inherited Leigh's syndrome (MILS) to neuropathy, ataxia, retinitis pigmentosa (NARP), depending on the mutation loads in affected patients. We report a kindred with several members in the same generation suffering NARP or Leigh's syndrome due to a 8993 T>G mutation. Post-mortem studies of the brain in one affected member clinically presenting with a neurological disorder intermediate between adult Leigh's syndrome and NARP showed symmetrical lesions of the basal ganglia and brainstem closely resembling those usually described in typical Leigh's syndrome. Analysis of mtDNA in different tissues showed a high proportion of mutant genome in brainstem, cerebral cortex, putamen, cerebellum and thalamus. These observations illustrate the continuum of clinical and neuropathological manifestations associated with the 8993 T>G mutation of the mtDNA.

Adenosine Triphosphatases↗

Algorithm to find gene expression profiles of deregulation and identify families of disease-altered genes.

MOTIVATION: Alteration of gene expression often results in up- or down-regulated genes and the most common analysis strategies look for such differentially expressed genes. However, molecular disease mechanisms typically constitute abnormalities in the regulation of genes producing strong alterations in the expression levels. The search for such deregulation states in the genomic expression profiles will help to identify disease-altered genes better. RESULTS: We have developed an algorithm that searches for the genes which present a significant alteration in the variability of their expression profiles, by comparing an altered state with a control state. The algorithm provides groups of genes and assigns a statistical measure of significance to each group of genes selected. The method also includes a prefilter tool to select genes with a threshold of differential expression that can be set by the user ad casum. The method is evaluated using an experimental set of microarrays of human control and cancer samples from patients with acute promyelocytic leukemia.

Algorithms↗

Determinants of health system delay among confirmed tuberculosis cases in Spain.

BACKGROUND: Health system delay (HSD) is an important issue in tuberculosis (TB) control. This report investigates HSD and associated factors in a cohort of Spanish culture-confirmed TB patients. METHODS: Data were collected from clinical records. Using logistic regression with two different cut-off points to define HSD (median and 75th percentile), adjusted odds ratios were used to estimate the association between HSD and different variables. RESULTS: A total of 5184 culture-confirmed TB cases were included. Median and 75th percentile HSD were 6 and 25 days respectively. HSD significantly greater than the median was associated with: age >44 years, past or present intravenous drug use, diagnosis at a primary-care centre, prior preventive therapy, positive histology, request for drug-sensitivity testing, presence of silicosis or neoplasia in addition to TB, presence of non-TB related symptoms, and gastrointestinal site. HSD greater than the 75th percentile was related to the same variables, with the exception of diagnosis at a primary-care centre, positive histology, silicosis, non-TB-related symptoms and gastrointestinal site, for which the association disappeared; in contrast, an association with female gender emerged. CONCLUSION: Despite free health care being universally available in Spain, there are some groups of TB patients whose treatment is unduly delayed.

Adolescent↗

Determinants of patient delay among tuberculosis cases in Spain.

BACKGROUND: Patient delay was investigated in a cohort of TB patients identified from May 1996 until April 1997 in 13 Autonomous Regions in Spain. The study covered almost 67% of the total Spanish population. METHODS: Data were collected from clinical records. Using unconditional logistic regression with two different cut-off points to define 'patient delay' (the median and 75th percentile), the association between patient delay and different factors was estimated. RESULTS: A total of 7,037 cases were included. Median and 75th percentile delays were 22 and 57 days respectively. Factors associated with patient delay greater than the median (p<0.05) were: non-respiratory symptoms of TB and age over 14 years, although the effect of age was not linear. Furthermore, an interaction was observed between intravenous drug user (IDU) and HIV status, in that, whereas patient delay was greater in IDUs than in non-IDUs among cases whose HIV status was either negative or unknown, among HIV-positive patients no such IDU-related differences were in evidence. Factors associated with extreme patient delay (greater than the 75th percentile) were essentially the same, but the above-described interaction disappeared, with IDU status showing no direct effect. In addition, likelihood of extreme patient delay increased in the case of alcoholism and female gender and decreased in the case of chronic renal failure, corticoid treatment, prison inmates and residents of old age homes. CONCLUSION: Although there is a universally enjoyed right to health care in Spain, some groups of TB patients could nevertheless be experiencing problems in seeking medical attention.

Adolescent↗

Complex partial status epilepticus of extratemporal origin in a patient with systemic lupus erythematosus.

The purpose of this case report is to describe the clinical, electroencephalographic and neuroimaging findings from a woman with systemic lupus erythematosus presenting with complex partial status epilepticus (CPSE) of neocortical temporo-parieto-occipital origin. The patient experienced complex visual hallucinations that initially were attributed to treatment with corticosteroids; however, an electroencephalogram (EEG) demonstrated the epileptic aetiology of her symptoms. CPSE should be considered as a possible cause of altered mental status in lupus. An urgent EEG is essential to make an accurate diagnosis.

Adult↗

Acute myeloid leukemia with MLL rearrangements: clinicobiological features, prognostic impact and value of flow cytometry in the detection of residual leukemic cells.

The MLL gene, located at 11q23 band, is frequently disrupted by different chromosomal rearrangements that occur in a variety of hematological malignancies. MLL rearrangements are associated with distinct clinical features and a poor prognosis. The aim of this study was to analyze the incidence and the prognostic significance of MLL rearrangements in a consecutive series of adult AML patients and to determine the immunophenotypic features of these cases. The identification of abnormal immunophenotypes could be used for the detection of minimal residual disease (MRD). Ninety-three adult patients with de novo acute myeloid leukemia (AML) were analyzed by Southern blot in order to detect MLL rearrangements (MLL+). RT-PCR and genomic long-range PCR were performed to further characterize MLL partial tandem duplication (PTD) in those patients in whom conventional karyotype did not show 11q23 chromosomal translocations. All the patients were homogeneously immunophenotyped at diagnosis. MLL rearrangements were detected in 13 (14%) patients. Four patients (5%) showed 11q23 translocations by karyotypic conventional analysis. Nine patients (10%) revealed PTD of MLL and one patient showed a MLL cleavage pattern. The MLL+ patients usually expressed myeloid and monocytic antigens CD33 (12/13 cases), CD13 (9/13), CD117 (9/13), CD64 (11/13) and in some cases CD14 (4/11). HLA-DR was also positive in (12/13). Eight out of 13 cases expressed the stem cell marker CD34. Only one patient revealed lymphoid marker reactivity (CD7) and CD56 was expressed in 5/13 cases. All the MLL+ patients showed at least one aberrant phenotype at diagnosis, which allowed us to set out a simple panel for the MRD studies. Twenty-seven samples from eight patients in morphologic complete remission (CR) were analyzed using the aberrant immunologic combinations detected at diagnosis. Phenotypically abnormal cells were detected in all the patients who subsequently relapsed, whereas only one patient with MRD+ remained in CR. Owing to the high level of residual leukemic cells, the MLL+ patients showed a short CR duration and a poor survival. In conclusion, immunophenotyping may be a suitable approach to investigating MRD status in AML patients with PTD of the MLL gene.

Acute Disease↗

Evidence for a central role for electro-osmosis in fluid transport by corneal endothelium.

The mechanism of transepithelial fluid transport remains unclear. The prevailing explanation is that transport of electrolytes across cell membranes results in local concentration gradients and transcellular osmosis. However, when transporting fluid, the corneal endothelium spontaneously generates a locally circulating current of approximately 25 microA cm(-2), and we report here that electrical currents (0 to +/-15 microA cm(-2)) imposed across this layer induce fluid movements linear with the currents. As the imposed currents must be approximately 98% paracellular, the direction of induced fluid movements and the rapidity with which they follow current imposition (rise time < or =3 sec) is consistent with electro-osmosis driven by sodium movement across the paracellular pathway. The value of the coupling coefficient between current and fluid movements found here (2.37 +/- 0.11 microm cm(2) hr(-1) microA (-1), suggests that: 1) the local endothelial current accounts for spontaneous transendothelial fluid transport; 2) the fluid transported becomes isotonically equilibrated. Ca(++)-free solutions or endothelial damage eliminate the coupling, pointing to the cells and particularly their intercellular junctions as a main site of electro-osmosis. The polycation polylysine, which is expected to affect surface charges, reverses the direction of current-induced fluid movements. Fluid transport is proportional to the electrical resistance of the ambient medium. Taken together, the results suggest that electro-osmosis through the intercellular junctions is the primary process in a sequence of events that results in fluid transport across this preparation.

Animals↗

Blood chemistry and haematocrit of the black vulture (Aegypius monachus).

We determined the values of haematocrit and blood chemistry of the black vulture (Aegypius monachus) in Extremadura (Spain). We analysed 57 nestlings, five feral adults, seven captive individuals in their first year and five captive adults. Free-living adults had a higher haematocrit and lower calcium and alkaline phosphatases concentrations than captive birds. There were differences in haematocrit and in the concentrations of glucose, uric acid, total proteins, alkaline phosphatases, phosphorus and aspartate aminotransferase between nestlings and young in their first year and adults. The estimated age of the nestlings was significantly correlated with haematocrit, plasma glucose and total protein concentrations. The physical condition of nestlings was significantly correlated with plasma alkaline phosphatases levels.

Aging↗

Quantification of foetomaternal haemorrhage. An analysis of two cytometric techniques and a semiquantitative gel agglutination test.

Traditional tests to screen for foetomaternal haemorrhage are time-consuming and difficult to perform. The Kleihauer test is widely used but difficult to standardize. We evaluated three techniques for quantifying foetomaternal haemorrhage: a semiquantitative gel agglutination test and two flow cytometric techniques. The gel agglutination test is based on the consumption of anti-D reagent by D+ cells, analysing the reaction of the supernatant against indicator cells in a Coombs-gel card. In the two colour direct immunofluorescent technique, the sample is incubated with Per-CP labelled anti CD45 antibody, fixed with glutaraldehyde and permeabilized by exposure to Triton X-100. An aliquot is stained with an antibody to foetal haemoglobin, conjugated with fluorescein isothiocyanate or phycoerythrin. The indirect immunofluorescent technique is based on the labelling of Rh (D) antigen with an anti D reagent, followed by the addition of an anti IgG antibody conjugated with phycoerythrin. Foetomaternal haemorrhage was not detected in 75 of the 85 samples analysed by the direct immunofluorescent technique. In the remaining 10 samples, the volume was very low. Thirty-five samples with Rh (D) antigen incompatibility were analysed in parallel by the indirect immunofluorescent technique and in 15 of the 35 samples, the gel agglutination technique was also carried out. The three techniques gave similar results. The gel agglutination test can be used to screen for foetomaternal haemorrhage, while greater volumes should be quantified by flow cytometric techniques.

Agglutination Tests↗

Tuberculosis in Spain: epidemiological pattern and clinical practice.

SETTING: Thirteen Autonomous Regions in Spain. OBJECTIVE: To study the incidence of all forms of tuberculosis (TB) and investigate clinical practice in TB. DESIGN: Cases of all forms of tuberculosis diagnosed in the study setting from May 1986 to April 1997 were identified though active search of different databases. Clinical and epidemiological information on cases was collected from clinical records or by interview with physicians. RESULTS: The overall incidence of all forms of tuberculosis was 38.5/100,000 and the incidence of smear-positive disease was 13.83/100,000. Most cases (97.1%) were Spanish nationals, with rates higher in men than in women (52.7/100,000 vs. 24.87/100,000) and in groups aged 25-34 and 75 years and over (61.35/100,000 and 59.35/100,000, respectively). Disseminated forms were frequent (6.6%), and the most common risk factor was human immunodeficiency virus (HIV) infection (17.7% of cases). Hospitalisation was common (71.6%). Microbiological confirmation of diagnosis was sought for 87.7% of the cases (91.8% of pulmonary vs. 75.5% of extra-pulmonary cases), and 65.2% were culture-positive (73.8% of pulmonary vs. 39.7% of extra-pulmonary cases). HIV-infected patients were treated in almost equal proportions with three or four drugs (49.7% and 48.2%, respectively), while HIV-negative cases or those whose HIV status was unknown were usually treated with three drugs. CONCLUSION: The epidemiological pattern of TB in Spain is different to other industrialised countries in the age distribution of cases and the proportions of foreigners and cases with HIV infection. Microbiological confirmation of diagnosis is more common in pulmonary than in extra-pulmonary disease, and treatment with four drugs more frequent in HIV-positive cases.

Adolescent↗

Two cases of confined placental mosaicism for chromosome 4, including one with maternal uniparental disomy.

Two cases of trisomy 4 mosaicism are reported including one with molecularly confirmed uniparental disomy (UPD) of chromosome 4. Cytogenetic analysis of a chorionic villus sample (CVS) in Case 1 showed complete trisomy 4 in trophoblast and diploidy in chorionic stroma. Amniotic fluid analysis demonstrated a 46,XX complement. After intrauterine fetal death at 30 weeks, molecular analysis confirmed the presence of trisomy 4 of maternal meiotic origin, while fetal tissues showed maternal UPD for chromosome 4. Cultured CVS in Case 2 revealed trisomy 4 in 2/30 cells analyzed. This pregnancy resulted in a healthy livebirth with biparental inheritance of chromosome 4. Molecularly confirmed UPD4 has not been previously reported, and therefore, although the adverse outcome in Case 1 is likely due to the trisomy 4 in the placenta, an imprinting effect associated with UPD4 cannot be excluded.

Adult↗

Fish oil (n-3) polyunsaturated fatty acids beneficially affect biliary cholesterol nucleation time in obese women losing weight.

It has been reported that intake of (n-3) polyunsaturated fatty acids (PUFA) reduces the risk of coronary heart disease and decreases biliary cholesterol saturation in the bile of gallstone patients. We investigated the effect of n-3 PUFA on cholesterol saturation index (CSI) and nucleation time (NT) in obese subjects who were losing weight. This was a double-blind, placebo-controlled clinical trial. Obese women (n = 35) with a body mass index (BMI) > or = 30 kg/m(2), with no prior history of gallstones or cholecystectomy by ultrasound were first studied to ensure absence of stones or biliary sludge. The women were then assigned to a hypocaloric regimen [5.02 MJ (1200 kcal)/d] and to receive 1200 mg/d of ursodeoxycholic acid (UDCA), 11.3 g/d of (n-3) PUFA or a placebo for 6 wk. BMI, CSI and NT were recorded at baseline and at the end of the experimental period. BMI decreased 5.75 +/- 2.7%/mo (range, 1.5-12.42%/mo) during the experiment. The CSI did not change in any of the groups. Cholesterol NT decreased significantly in the UDCA and placebo groups, but not in the (n-3) PUFA group. None of the women had developed gallstones at 6 wk. These results suggest that (n-3) PUFA maintain the CSI and NT in obese women during rapid weight loss, which probably results in the prevention of cholesterol gallstone formation.

Adult↗

Papillary squamous cell carcinoma of the larynx.

A case of papillary squamous cell carcinoma of the larynx in a 50-year-old man is reported. The lesion was located in the supraglottic region and grossly presented a characteristic finger-like pattern of growth. The tumour pursued an indolent clinical course, and the patient is well and free of disease after 47 months of follow-up. The present paper recapitulates the macro- and microscopic features of this rare neoplasm and stresses its differential diagnosis with other exophytic squamous cell carcinomas of the region.

Carcinoma, Squamous Cell↗

Novel approaches in the treatment of non-small-cell lung cancer.

A wealth of data indicates that certain genetic abnormalities can target specific cytotoxic drugs and intervene at an early step as a mechanism of resistance in the treatment of non-small-cell lung cancer. Therefore prescribing certain combinations of cytotoxic anticancer agents to a vast majority of these patients is futile. Genetic abnormalities have been found to be useful surrogate markers for response, particularly in colorectal cancer: thymidylate synthase mRNA and ERCC1 mRNA levels. In addition, beta-tubulin mutations may also confer paclitaxel resistance in patients. An important target to be explored for gemcitabine resistance is the assessment of a particular region in chromosome 11p15.5 wherein lies the ribonucleotide reductase gene that could affect gemcitabine metabolism. Shedding light on this genetic framework, several proposed customized chemotherapy studies could help validate the relevance of these markers.

Antineoplastic Combined Chemotherapy Protocols↗

Separation of some platinum group metal chelates with 8-hydroxyquinoline by various high-performance liquid chromatographic methods.

Different HPLC methodologies are employed to evaluate the separation and determination of some platinum metals (Pt, Pd, Ir and Rh) after the formation of 8-hydroxyquinolate chelates. With the aim of reducing the number of steps in treating the samples, the method developed did not include the elimination of excess chelating reagent before the analysis of metal chelates. Reversed-phase (RP), non-aqueous reversed-phase (NARP) and normal-phase (NP) HPLC are compared. The RP-HPLC method only permits the quantitative separation of Rh and Pd from the excess reagent. A silica column can be used to separate Ir and Rh by NP-HPLC. The NARP-HPLC method allows for the effective separation of the four elements tested, but the high detection limit (90 ng) for platinum and the peak width do not favour its application for quantitative measurement. Platinum group metals can be quantitatively separated and determined by NP-HPLC using a cyano column in less than 15 min. The broad linear range of all the elements (between 1 and 500 ng) is superior to that which has been previously reported and the detection limits (1.0 ng for Pt, 0.3 ng for Pd, 1.0 ng for Ir and 0.3 ng for Rh) are slightly lower.

Chelating Agents↗