Prevalencia estimada de insuficiencia renal crónica en España en pacientes con diabetes mellitus tipo 2 / Estimated prevalence of chronic renal failure among patients with type 2 diabetes in Spain

Fundamento y objetivo: El objetivo principal del estudio fue determinar la prevalencia actual de insuficiencia renal crónica (IRC) en pacientes ambulatorios con diabetes mellitus tipo 2 (DM2), en seguimiento en los servicios de Endocrinología a nivel nacional. Pacientes y método: Estudio con diseño observacional, transversal, multicéntrico y con recogida de datos retrospectiva. De cada participante se registraron datos demográficos y antropométricos, de función renal, de la diabetes, de factores de riesgo cardiovascular, comorbilidades y tratamientos. La presencia de IRC fue definida con un filtrado glomerular inferior a 60ml/min/1,73m2, y se utilizó el método Modification in Diet of Renal Disease abreviado. Resultados: Se incluyeron 541 pacientes con DM2 de ambos sexos (el 53% eran varones), con una edad media (DE) de 63 años (7,9) y una hemoglobina glucosilada media del 7,6% (1,3). La prevalencia (intervalo de confianza [IC] del 95%) de IRC fue del 22,9% (IC del 95%: 19,4–26,7), superior a la estimada previamente, que fue del 5,7% (IC del 95%: 3,9–8,0) (p<0,0001). Como factores de riesgo de tener IRC se identificaron la edad (odds ratio [OR]: 2,07 [IC del 95%: 1,47–2,91] por cada 10 años de aumento), el sexo femenino (OR: 2,25 [IC del 95%: 1,36–3,71]) y la hiperuricemia (OR: 3,15 [IC del 95%: 1,56–6,37]). No hubo diferencias en el control metabólico entre los pacientes con IRC frente a sin IRC objetiva. Conclusión: Un 22,9% de los pacientes con DM2 seguidos de manera ambulatoria por endocrinólogos presenta IRC y de esta población sólo está diagnosticada una cuarta parte. La determinación automatizada del aclaramiento de creatinina podría incrementar el porcentaje de diagnóstico y facilitar un mejor control metabólico en estos pacientes

Background and objective: The aim of this study was to estimate the current prevalence of Chronic Renal Insufficiency (RI) in ambulatory patients with type 2 Diabetes (T2DM) assisted in Endocrinology Departments all over Spain. Patients and methods: This was an observational, cross sectional, multicenter study. From each participant the following data were retrospective collected: demographic, anthropometric, renal function, diabetes, cardiovascular risk factors, comorbidities and treatment. RI was defined by a glomerular filtration rate lower than 60ml/min/1.73m2, using the shortened MDRD method. Results: 541 patients with T2DM were included, 53% were men, the mean age (DS) was 63 years old (7.9) and the HbA1c was 7.6 % (1.3). The prevalence (CI95%) of RI was 22.9% (19.4–26.7), higher than the previous estimate, witch was 5,7% (3.9–8.0, p<0,0001). The associated risk factor for RI were age (OR 2.07; 95%CI: 1.47–2.91 per each ten year period of increase), female gender (OR 2.25; 95%CI: 1.36–3.71) and hyperuricemia (OR 3.15; 95% CI: 1.56–6.37). There were no differences in the metabolic control between patients with RI vs those without RI. Conclusions: 22.9% of T2DM ambulatory patients followed by endocrinologist had RI, but just a quarter of them had previously been diagnosed. The automated determination of creatinine clearance could increase the proportion of diagnosis and facilitate the improvement of the metabolic control in these patients (AU)

[Estimated prevalence of chronic renal failure among patients with type 2 diabetes in Spain]. / Prevalencia estimada de insuficiencia renal crónica en España en pacientes con diabetes mellitus tipo 2.

BACKGROUND AND OBJECTIVE: The aim of this study was to estimate the current prevalence of Chronic Renal Insufficiency (RI) in ambulatory patients with type 2 Diabetes (T2DM) assisted in Endocrinology Departments all over Spain. PATIENTS AND METHODS: This was an observational, cross sectional, multicenter study. From each participant the following data were retrospective collected: demographic, anthropometric, renal function, diabetes, cardiovascular risk factors, comorbidities and treatment. RI was defined by a glomerular filtration rate lower than 60ml/min/1.73m(2), using the shortened MDRD method. RESULTS: 541 patients with T2DM were included, 53% were men, the mean age (DS) was 63 years old (7.9) and the HbA(1)c was 7.6 % (1.3). The prevalence (CI95%) of RI was 22.9% (19.4-26.7), higher than the previous estimate, witch was 5,7% (3.9-8.0, p<0,0001). The associated risk factor for RI were age (OR 2.07; 95%CI: 1.47-2.91 per each ten year period of increase), female gender (OR 2.25; 95%CI: 1.36-3.71) and hyperuricemia (OR 3.15; 95% CI: 1.56-6.37). There were no differences in the metabolic control between patients with RI vs those without RI. CONCLUSIONS: 22.9% of T2DM ambulatory patients followed by endocrinologist had RI, but just a quarter of them had previously been diagnosed. The automated determination of creatinine clearance could increase the proportion of diagnosis and facilitate the improvement of the metabolic control in these patients.

Simultaneous genotyping of CYP2C9*2, *3, and 5' flanking region (C-1189T) polymorphisms in a Spanish population through a new minisequencing multiplex single-base extension analysis.

OBJECTIVE: To conduct a descriptive study on the prevalence of relevant cytochrome P450 2C9 (CYP2C9) polymorphisms--the *2, *3, and 5' flanking region (C-1189T)--in a Spanish population using a new minisequencing fluorescent method through a multiplex single base extension (SBE) analysis. METHOD: The method simultaneously and accurately genotypes the CYP2C9 polymorphisms studied and is available as a commercial protocol (SNaPshot). Various strategies, including restriction fragment length polymorphism (RFLP) and Taqman, were used to validate the methodology. RESULTS: The frequencies of alleles CYP2C9*2 (12%) and *3 (6.2%) were similar to those described for other Caucasian populations. The frequency of allele t at the 5' flanking region was 62%, which is close to the percentage reported in Japanese and French populations. The four haplotypes inferred in our samples and their frequencies were consistent with those reported in other studies. CONCLUSION: Our results confirm previously reported Caucasian frequencies for the CYP2C9*2 and *3 alleles and, for the first time, provide data on the frequency of the CYP2C9 5' flanking region (C-1189T), a recently described polymorphism, in a Spanish population. The SBE technique detects unequivocally the three polymorphisms in a single reaction, which makes it suitable for the analysis of CYP2C9 in the many therapeutic situations in which it is involved.

[Cost-effectiveness of an intervention based on the Global INitiative for Asthma (GINA) recommendations using a computerized clinical decision support system: a physicians randomized trial]. / Coste-efectividad de una intervención basada en las recomendaciones de la Global INitiative for Asthma (GINA), mediante un sistema informatizado de apoyo a la decisión clínica: un ensayo con aleatorización de médicos.

BACKGROUND AND OBJECTIVE: To assess the cost-effectiveness of an intervention based on the Global INitiative for Asthma (GINA) recommendations as compared to usual care. SUBJECTS AND METHOD: Pragmatic, cluster-randomised trial. Ten pneumologists and 10 general practitioners were randomised to an intervention or control group, recruiting 98 and 100 asthma patients, respectively. The intervention consisted of an education program and a clinical decision support system (CDSS) providing recommendations based on the GINA. The control group was characterized by usual care. Effectiveness was assessed by the health related quality of life as measured by the St. George's Respiratory Questionnaire (SGRQ). Costs were computed from the resource consumption recorded during a 12 months follow-up period, and the cost-effectiveness of the intervention was investigated in an incremental analysis. RESULTS: The intervention effect on the SGRQ total score was estimated as a 6.8 point reduction (95% confidence interval, 2.5-11.1; p = 0.0021), and a significant improvement in the SGRQ subscores and in the symptoms-free periods were also observed. From the social perspective, the mean total costs showed savings of -1,022 Euros (95% confidence interval, -2,165 to 122; p = 0.0795) in intervention group as compared to usual care. The incremental analysis confirmed that the intervention was cost-effective. CONCLUSIONS: The implementation of an asthma management program based in GINA recommendations improved the patient's health related quality of life and was cost-effective as compared to usual care.

Coste-efectividad de una intervención basada en las recomendaciones de la Global INitiative for Asthma (GINA), mediante un sistema informatizado de apoyo a la decisión clínica: un ensayo con aleatorización de médicos / Cost-effectiveness of an intervention based on the Global INitiative for Asthma (GINA) recommendations using a computerized clinical decision support system: a physicians randomized trial

FUNDAMENTO Y OBJETIVO: Evaluar el coste-efectividad de una intervención basada en las recomendaciones de la Global INitiative for Asthma (GINA) comparada con la práctica clínica habitual. SUJETOS Y MÉTODO: Ensayo pragmático y aleatorizado por grupos. Se aleatorizó a los grupos de intervención y control a 10 neumólogos y 10 médicos de atención primaria, los cuales incluyeron a 98 y 100 pacientes asmáticos, respectivamente. La intervención consistió en facilitar a los médicos un sistema de ayuda a la decisión clínica (SADC) que ofrecía recomendaciones basadas en la GINA. Los médicos del grupo control no disponían de dicho SADC. La efectividad se determinó midiendo la calidad de vida por medio del St. Georges Respiratory Questionnaire(SGRQ). Se calcularon los costes a partir del consumo de recursos registrado durante 12 meses y se determinó el coste-efectividad de la intervención mediante un análisis incremental. RESULTADOS: El efecto de la intervención sobre la puntuación total del SGRQ se estimó en una reducción de 6,8 puntos (intervalo de confianza del 95%, 2,5-11,1; p = 0,0021) y en una mejora significativa en las subescalas, así como en los períodos libres de síntomas. Se observó una reducción de los costes en el grupo I de intervención, que se estimó en -1.022 € (intervalode confianza del 95%, -2.165 a 122; p = 0,0795) desde la perspectiva social. El análisis incremental confirmó el coste-efectividad de la intervención. CONCLUSIONES: La implementación de un programa de gestión del asma basado en recomendaciones de la GINA mejoró la calidad de vida de los pacientes y fue coste-efectiva respecto de la práctica clínica habitual

BACKGROUND AND OBJECTIVE: To assess the cost-effectiveness of an intervention based on the GlobalINitiative for Asthma (GINA) recomendations as compared to usual care. SUBJECTS AND METHOD: Pragmatic, cluster-randomised trial. Ten neumologysts and 10 generalpractitioners were randomised to an intervention or control group, recruiting 98 and 100 asth-mapatients, respectively. The intervention consisted of an education program and a clinical decision support system (CDSS) providing recommendations based on the GINA. The control group was characterized by usual care. Effectiveness was assessed by the health related quality of life as measured by the St. George’s Respiratory Questionnaire (SGRQ). Costs were computed from the resource consumption recorded during a 12 months follow-up period, and thecost-effectiveness of the intervention was investigated in an incremental analysis. RESULTS: The intervention effect on the SGRQ total score was estimated as a 6.8 point reduction(95% confidence interval, 2.5-11.1; p = 0.0021), and a significant improvement in the SGRQ subscores and in the symptoms-free periods were also observed. From the social perspective, the mean total costs showed savings of -1,022 € (95% confidence interval, -2,165 to122; p = 0.0795) in intervention group as compared to usual care. The incremental analysis confirmed that the intervention was cost-effective. CONCLUSIONS: The implementation of an asthma management program based in GINA recommendations improved the patient’s health related quality of life and was cost-effective as compared to usual care

Characterisation and expression analysis of the WDR9 gene, located in the Down critical region-2 of the human chromosome 21.

We report the isolation and characterisation of the gene WDR9 (WD Repeat 9), located in the Down Syndrome critical region-2 (DCR-2) from the human chromosome 21. This gene spans 125 kb of genomic sequence and is organised in 41 exons and 40 introns. The WDR9 cDNA has a size of 13 kb and encodes for a putative protein of 2269 amino acids with a potential location in the nucleus. Expression analysis in different human adult tissues and in cultured cell lines indicates that the gene has several tissue-specific transcripts. The more significant protein signatures in the WDR9 protein sequence are for WD repeats, bromodomain, beta-ketoacyl synthases, and ribonucleoprotein (RNP). The WDR9 protein has a high similarity with the Mus musculus neuronal differentiation protein (NDRP) and a region of similarity with the region of the Yotiao protein that has been proposed to bind the NR1 subunit of the NMDA receptor. The presence of protein-protein interaction domains as such the WD repeats, and the similarity of the WDR9 protein to regulatory proteins suggest a potential involvement in some of the clinical features associated to the DCR-2.