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Biomedical subjects

M Aymerich

Publications and source records attributed to M Aymerich.

At least 19 recordsLinked to original sources

[Reliability and validity of the Spanish version of the health and quality-of-life questionnaire, the Vecú et Santé Perçue de l'Adolescent (VSP-A)].

OBJECTIVE: To assess the psychometric properties of the Spanish version of the Vecú et Santé Perçue de l'Adolescent (VSP-A) in terms of reliability and validity. DESIGN: Cross-sectional study. SETTING: Pilot study parallel to the European Kidscreen project. Two secondary schools, one public and one private, were selected for their suitability in Barcelona and Gerona (Catalonia, Spain). The sample unit was the classroom. PARTICIPANTS: A sample of 354 adolescents aged 12 to 18 years old was selected. MAIN MEASUREMENTS: The Spanish VSP-A questionnaire was administered, and again a week later to check its test-retest stability. The KINDL questionnaire was administered in parallel. RESULTS: The response rate was 82% (n=291). The Spanish version of the VSP-A showed good internal consistency and acceptable test-retest reliability (Cronbach's alpha: 0.69-0.92, intraclass correlation coefficient [ICC]: 0.69-0.74) in most domains. Domains measuring a similar concept in the VSP-A and KINDL had closer correlation coefficients than those measuring different constructs (P<.05), which demonstrates its convergent validity. Girls had worse self-perceived health than boys (lower vitality, physical and emotional well-being and self-esteem, and a lower general score on the VSP-A; p<.01). These differences were more obvious in older teens (16-18 years old). CONCLUSIONS: The Spanish VSP-A showed good psychometric properties and results were consistent with the original French version. The results mean we have an adequate HRQL instrument for teens and for use in primary care and public health.

Adolescent↗

G-CSF increases the number of peripheral blood dendritic cells CD16+ and modifies the expression of the costimulatory molecule CD86+.

Dendritic cells (DC) play a key role in initiating immune reactions after allogeneic stem cell transplantation. The two main peripheral blood DC populations are myeloid (DC1) and lymphoplasmacytoid (DC2). A new subset of myeloid DC, expressing CD16, has been identified. We analyzed the number and CD86 expression of DC subsets in peripheral blood of 18 healthy donors, before and after granulocyte colony-stimulating factor (G-CSF) and in the inoculum of allogeneic peripheral blood transplants (allo-PBT; n=100) and allogeneic bone marrow transplants (allo-BMT; n=22). Granulocyte colony-stimulating factor administration increased the median number of DC1 (P=0.0007), of DC2 (P<0.0001) and of DC CD16+ (P=0.0001). Granulocyte colony-stimulating factor administration was also associated with a significant decrease of CD86 expression on DC1 (P=0.0003) and with a trend for an increase on DC CD16+ (P=0.07). Recipients of allo-PBT received similar quantities of DC1 and higher doses of DC2 and DC CD16+ than recipients of allo-BMT (P=0.5; P=0.0001; P<0.0001, respectively). Granulocyte colony-stimulating factor modifies the number of DC in peripheral blood and the expression of the costimulatory molecule CD86. This resulted in a different composition of DC2 and especially of DC CD16+ in the harvests, which might explain some of the differences observed in allogeneic reactions after allo-PBT with respect to allo-BMT.

Antibodies, Monoclonal↗

[Spanish adaptation of the disease-specific questionnaire MSQOL-54 in multiple sclerosis patients].

INTRODUCTION: The Multiple Sclerosis Quality of Life 54 (MSQOL-54) is a health-related quality of life specific questionnaire for multiple sclerosis (MS) patients. The objective of this study was to develop the Spanish version of the MSQOL-54 and to obtain a conceptually equivalent version to the original one for its use in patients with MS in the first phase of the project. METHODS: A transcultural adaptation procedure was designed according to the following phases: a) two independent translations made by bilingual native Spanish speaking translators (forward translation); b) a revision of the items by an expert panel; c) a back translation by a bilingual native English speaking person; d) comparison with the original version (expert panel and advise by the original authors), and e) cognitive debriefing (interviews with subjects with MS) to test the comprehension and feasibility of the instrument. RESULTS: Ten interviews were carried out with 5 men and 5 women with MS, aged 21 to 54 years, with different education levels and EDSS scores ranging from 1,0 to 8,0. Most of the patients found the questionnaire easy to fill out and the understanding favorable. Only one item (item 51) was modified after the cognitive debriefing to improve its comprehension. Finally, a final pretest version was obtained. CONCLUSIONS: The procedure carried out maximizes the conceptual equivalence between the original MSQOL-54 and the translated version and shows that the Spanish pre-test version is comprehensible and its administration feasible in patients with MS. The psychometric properties must be evaluated in the next phase of the project.

Activities of Daily Living↗

[The Spanish version of the German health-related quality of life questionnaire for children and adolescents: the Kindl].

OBJECTIVES: To obtain a Spanish version of the Kindl semantically and culturally equivalent to the original German version and to test its psychometric properties. MATERIAL AND METHODS: The methodology used in the adaptation process was based on the forward-backward translation method. To assess the psychometric properties of the Spanish Kindl, the pilot test of the project "Screening for and promotion of HRQL in children and adolescents: a European Public Health perspective (Kidscreen)" it was include in. A classroom was selected for each educational level (8-16 years old) from three schools in Gerona and Barcelona. The Spanish Kindl was administered twice, one week apart. Internal consistency was assessed by computing Cronbach alpha and test-retest stability was assessed using intraclass correlation coefficients (ICC). Analysis of variance was performed according to age, sex, type of school, and self-perceived health status. RESULTS: Half of the items (12/24) required minor changes during the adaptation process. The response rate was 91 % (n = 447). Internal consistency was acceptable for most domains (alpha range = 0.40-0.88), as was test-retest stability (ICC range = 0.52-0.80). Girls and older teenagers scored worse in most domains (p < 0.01). No differences were found by type of school. CONCLUSIONS: The Spanish version of the Kindl showed adequate reliability and validity coefficients and represents a new HRQL instrument that can be applied in pediatric clinical practice and public health.

Adolescent↗

Serial quantification of lymphoid and myeloid mixed chimerism using multiplex PCR amplification of short tandem repeat-markers predicts graft rejection and relapse, respectively, after allogeneic transplantation of CD34+ selected cells from peripheral blood.

We used multiplex amplification of nine microsatellite sequences (PCR-STR) to analyse chimerism in pure populations of T cells and neutrophils from peripheral blood from 40 patients submitted to an allogeneic transplant, 22 having received a T-cell depleted (TCD) peripheral blood graft by means of CD34(+) selection (allo-PBT/CD34(+)), and 18, an unmodified graft (allo-SCT; 13 allogeneic bone marrow transplants and five allo-PBT). T-cell mixed chimerism (TcMC) was observed in 16 of the 22 (72.3%) patients receiving an allo-PBT/CD34(+), but in only one of the 18 (5.5%) patients receiving an allo-SCT (P=0.0001). TcMC was transient (n=6), stable (n=7), and associated with poor haematopoietic engraftment (n=4). All patients with TcMC who developed graft failure had more than 30% of host T cells. Myeloid MC (MyMC) was observed in four (19%) allo-PBT/CD34(+) patients and in three (17%) allo-SCT patients (P=NS). Five out of seven (71%) patients with MyMC relapsed, all of them diagnosed with myeloid malignancies, as compared with two of the 20 (10%) patients with complete donor chimerism (P&<0.0001). In conclusion, TcMC appears in a significant number of allo-PBT/CD34(+) patients and may be associated with poor engraftment when the percentage of host T cells is >30%; likewise, MyMC appears in a small percentage of recipients of both allo-PBT/CD34(+) and allo-SCT patients, and is associated with leukaemia relapse in myeloid malignancies.

Adult↗

Smoldering multiple myeloma: natural history and recognition of an evolving type.

Patients with smoldering multiple myeloma (SMM) meet the diagnostic criteria of multiple myeloma (MM) but are asymptomatic. Between January 1978 and July 2001, 53 patients (median age 63 years) were diagnosed with SMM. The median serum M-protein and proportion of bone marrow plasma cells were 36 g/l and 27% respectively. Two subsets of SMM were identified: (i) evolving SMM (n = 22), characterized by a progressive increase in serum M-protein, a previously recognized monoclonal gammopathy of undetermined significance (MGUS) and a significant higher proportion of IgA type and (ii) non-evolving SMM (n = 26) with stable M-protein that abruptly increases when symptomatic MM develops. Thirty-four patients developed symptomatic MM. The median time to progression in the overall series was 3.2 years and the only feature associated with a shorter time to progression was the evolving versus non-evolving type (1.3 vs. 3.9 years respectively, P = 0.007). The pattern of progression consisted of anaemia, lytic bone lesions or both, without renal failure, hypercalcaemia or extramedullary plasmacytomas. Fifty-seven per cent of patients that required chemotherapy showed no or minimal response. The median survival from diagnosis and from progression was 8.2 and 3.5 years respectively.

Adult↗

Malignant transformation in IgM monoclonal gammopathy of undetermined significance.

Monoclonal gammopathy of undetermined significance (MGUS) is a frequent disorder characterized by the presence of a small serum M-protein in individuals with no evidence of multiple myeloma (MM), Waldenstrom's macroglobulinemia (WM), or primary amyloidosis (AL). Although one fourth of these individuals will develop a malignant disease, there are no well-established predictors of outcome, particularly in the IgM type MGUS. Among 434 patients diagnosed with MGUS from 1970 to 2001 with a minimum follow-up of 1 year, 52 (27 men and 25 women; median age, 67 years) of IgM type were identified. After a median follow-up of 5 years, five patients (9.6%) have developed WM. The risk of transformation was 13.3% (95% confidence interval [CI], 0 to 27) and 27.7% (95% CI, 0.3 to 55.1) at 10 and 20 years, respectively. The variables significantly associated with transformation were the proportion of bone marrow plasma cells (BMPC) and the percentage of bone marrow lymphocytes (BML). No significant differences in the risk of transformation were found between IgM MGUS and the remaining MGUS types. Thus, in IgM MGUS the rate of transformation was similar to the risk observed in other MGUS types, the percentage of BMPC and BML being the features significantly associated with evolution into WM.

Aged↗

Management of Helicobacter pylori in duodenal ulcer: a cost-effectiveness analysis.

BACKGROUND: Empirical eradication therapy of H. pylori has been proposed as a therapeutic alternative for duodenal ulcer. AIM: To identify the cost-effectiveness of empirical eradication therapy vs. test-and-treatment for the management of patients already diagnosed with a duodenal ulcer. METHODS: A decision analysis was performed to compare the cost-effectiveness of empirical eradication therapy of H. pylori diagnosed duodenal ulcer vs. eradication therapy after confirmatory diagnosis of Helicobacter pylori infection by means of several diagnostic tests. RESULTS: The empirical eradication therapy of duodenal ulcer was found to be the most effective and cost-effective strategy of all the alternatives. Amongst the alternatives, which included the previous performance of confirmatory diagnostic tests, the best cost-effectiveness ratio used a serology test. The model was robust in the face of changes in the values of therapeutic effectiveness, sensitivity and specificity of the diagnostic tests, prevalence of H. pylori infection in duodenal ulcer, duration of the antisecretory therapy, and number of medical visits. CONCLUSIONS: Based on our cost-effectiveness analysis, a treat approach is more effective and cost-effective than a test-and-treat approach in the clinical management of already diagnosed duodenal ulcer.

Cost-Benefit Analysis↗

Rapid diagnosis of acute promyelocytic leukemia by analyzing the immunocytochemical pattern of the PML protein with the monoclonal antibody PG-M3.

The fusion protein, promyelocytic leukemia-retinoic acid receptor (PML-RAR)alpha, generated by the t(15;17) translocation has an abnormal cellular distribution with colocalization of RARalpha and PML proteins. We analyzed the immunostaining pattern of PML protein using the PG-M3 monoclonal antibody directed against the amino terminal portion of PML (retained in wild-type PML and PML-RARalpha fusion protein) in the diagnosis of acute promyelocytic leukemia (APL). In addition, we compared this test with other methods for detecting the PML-RARalpha fusion gene. A normal immunostaining pattern was observed in nonmyeloid disorders and in 78 of 111 acute myeloid leukemias (AMLs). A microgranular pattern was observed in 25 AMLs, all corresponding to APL. These results were concordant with the reverse transcriptase-polymerase chain reaction results for PML-RARalpha fusion gene. Only 1 case positive for the PML-RARalpha transcript showed a normal protein pattern by immunocytochemistry. PML immunostaining was helpful to rapidly differentiate 7 cases with borderline characteristics and to obtain the diagnosis in 2 cases with scarce material. The effectiveness and low cost of this technique support its routine use as a first-line procedure in the differential diagnosis of AML.

Antibodies, Monoclonal↗

[Efficacy and safety of thrombolytic therapy in pulmonary embolism: meta-analysis of randomized controlled trials].

BACKGROUND: The role of thrombolytic agents in the treatment of pulmonary thromboembolism (PTE) remains a controversial issue. The objective of this study is to assess the efficacy and safety of thrombolytic therapy in the treatment of PTE by means of a meta-analysis of randomized controlled trials (RCT). METHODS: A bibliographic search of the main biomedical bibliographic databases was carried out and eight randomized controlled trials that fulfilled the inclusion criteria were found. Two blinded and independent evaluators assessed the quality of RCT according to Jadad scale, and selected the necessary data to fulfill the objective of this study. RESULTS: The selected trials were heterogeneous regarding the type of thrombolytic agent, the administration schedule, and the efficacy measures used. The methodological quality was 2 points in the Jadad scale as an average. No statistically significant differences in mortality nor in risk of PTE relapse were found between the group of patients receiving thrombolytic agents and the group not receiving them. Significant differences were found, however, between these two groups as regards the risk of bleeding events (OR = 2.62; CI 95%: 1.56-4.38). CONCLUSION: The results of these meta-analyses do not suggest the use of thrombolytic therapy in PTE in everyday clinical practice since measurable risks overcome potential benefits.

Fibrinolytic Agents↗

Anaplastic large-cell lymphoma with rapid evolution to leukemic phase.

Anaplastic large-cell lymphoma (ALCL) is a lymphoproliferative disorder that frequently presents with disseminated disease and extranodal involvement. Rare atypical cells have been detected in the peripheral blood in occasional cases. However, the presence of a prominent leukemic phase is extremely rare in these patients. We describe a patient with a small-cell variant of ALCL of T-cell phenotype, ALK-1 positive, who developed a rapid leukemic phase in association with the progression of the disease. Similar to the nodal biopsy, the predominant cells in bone marrow and peripheral blood were small atypical lymphoid cells. The large tumor cells expressed ALK immunoreactivity with a cytoplasmic and nuclear pattern, whereas some of the small cells showed only a nuclear-restricted pattern of staining. An RT-PCR study detected the NPM-ALK chimeric product in the nodal biopsy and in a peripheral blood sample in the early phase of the disease, but it became negative in a peripheral blood sample obtained after completion of the chemotherapy treatment, suggesting that this assay may be useful in the follow-up of these patients. This case indicates that a prominent leukemic phase may develop in ALCL as a manifestation of tumor dissemination and that it may be composed of a predominant small-cell atypical component.

Adult↗

[Use of diagnostic tests in the context of evidence-based medicine].

BACKGROUND: The advances of medicine over the last twenty years include the use of new tests and diagnostic methods in clinical practice. At the same time, we have witnessed the introduction of a strong movement, named Evidence Based Medicine, which basically includes a serious attempt for rationalizing the findings of more than 50 years of biomedical research, and to apply them properly to our patients as well as to the whole population. METHODS: Review of the published literature. All the recommendations are used in a practical example. RESULTS: Summary of the current existing recommendations for the assessment of a new diagnostic tool before its clinical application, and discussion of possible solutions for achieving a more efficient use of these tests. CONCLUSIONS: There are enough evidences for defining criteria for a uniform evaluation process of new diagnostic tests. The criteria could be useful for the clinical application of these tests.

Bias↗

[The other side of the coin: socioeconomic analysis of antibiotic resistance].

BACKGROUND: The re-emergence of bacterial diseases and their negative consequences in terms of health and economic cost, have made this issue an important public health problem. The objective of this work is to review the economic literature about antibiotic resistance, and to suggest possible solutions in our health care context aimed to reduce their negative impact. METHODS: We made a bibliographic search in the main biomedical databases. Economic assessment studies published in Spanish, English, French or Italian and related to the appearance of antibiotic resistance were selected. Their main methodological characteristics and results were analysed. RESULTS: Two studies analysing the economic impact of the appearance of antibiotic resistance were identified. A minimum hospital cost of 1300 million dollars (in 1992), and a social cost between 100 and 30,000 million dollars (in 1989) were estimated. CONCLUSIONS: Economic analysis allows to quantify and assess the impact of several management strategies in relation with antibiotic administration, in terms of health and costs, and to choose the most cost-effective strategies. The identification of inappropriate consumption of antibiotics as a cause of a negative externality upon the rest of the society is basic to make health care professionals and public opinion conscious about this problem, and to develop strategies to reduce its negative impact.

Anti-Bacterial Agents↗

Trade-offs in prenatal detection of Down syndrome.

OBJECTIVES: This paper presents the results of different screening policies for prenatal detection of Down syndrome that would allow decision makers to make informed choices. METHODS: A decision analysis model was built to compare 8 screening policies with regard to a selected set of outcome measures. Probabilities used in the analysis were obtained from official administrative data reports in Spain and Catalonia and from data published in the medical literature. Sensitivity analyses were carried out to test the robustness of screening policies' results to changes in uptake rates, diagnostic accuracy, and resources consumed. RESULTS: Selected screening policies posed major trades-offs regarding detection rates, false-positive results, fetal loss, and costs of the programs. All outcome measures considered were found quite robust to changes in uptake rates. Sensitivity and specificity rates of screening tests were shown to be the most influential factors in the outcome measures considered. CONCLUSIONS: The disclosed trade-offs emphasize the need to comprehensively inform decision makers about both positive and negative consequences of adopting one screening policy or another.

Abortion, Spontaneous↗

First description of a frameshift mutation in the alpha1-globin gene associated with alpha-thalassaemia.

A frameshift mutation in the alpha1-globin gene, responsible for a clinically mild alpha-thalassaemia phenotype, has been characterized in a Spanish woman. After excluding the most common forms of alpha-thalassaemia found in the Mediterranean area, both alpha-globin genes (alpha1 and alpha2) were amplified and analysed selectively by non-radioactive single-strand conformation polymorphism (SSCP). An abnormal SSCP mobility was present in the second exon of the alpha1-globin gene and direct sequence analysis revealed a 13 bp deletion (between codons 51 and 55) affecting a single allele. The consequence of this mutation is a reading frameshift leading to a novel amino acid coding sequence from codons 51-61 and a premature stop signal at new position 62, which results in a net reduction of the affected alpha-globin chain output. The presence of this new mutation was confirmed by restriction enzyme analysis of the specific PCR product.

Aged↗

Two new mutations of the glucose-6-phosphate dehydrogenase (G6PD) gene associated with haemolytic anaemia: clinical, biochemical and molecular relationships.

In two unrelated Spanish males with glucose-6-phosphate dehydrogenase (G6PD) deficiency and haemolytic anaemia, and two different novel point mutations in the G6PD gene, have been identified. A C to T transition at nucleotide 406 resulting in a (136) Arg to Cys substitution and a C to G transition at nucleotide 1155 resulting in a (385) Cys to Trp substitution. These two molecular defects have not been described before and are designated G6PD Valladolid 406 C-->T and G6PD Madrid 1155 C-->G. In vitro biochemical characterization of both mutant enzymes showed important differences in their molecular properties according to their different clinical behaviour. In G6PD Valladolid, the mutation of which is located in exon 5, the normal in vitro heat stability may explain its mild clinical expression (low-grade haemolysis interrupted by an acute haemolytic crisis at age 70). In G6PD Madrid, the mutation, located in exon 10, results in a deficient variant associated with neonatal jaundice and life-long chronic nonspherocytic haemolytic anaemia (CNSHA). This finding further emphasizes the importance of this specific region of the G6PD gene in the stabilization of the G6PD molecule. Putative relationships between these single point mutations and the molecular properties of the mutant enzymes are also discussed.

Anemia, Hemolytic↗