A new dual translocation of chromosome 14 in a pediatric Burkitt lymphoma/leukemia patient: t(8;14) and t(14;15).

Burkitt lymphoma/leukemia (BL/L) is an aggressive mature B-cell malignancy cytogenetically characterized by the translocation t(8;14)(q24;q32) or its variants, which determines the juxtaposition of the MYC oncogene to one of the three immunoglobulin loci. In addition to MYC translocations, different secondary genetic abnormalities have been described, some of them with prognostic significance. However, dual translocations of chromosome 14, except those involving chromosome 18, are very rare events in this pathology. Herein, we present the coexistence of translocations t(8;14) and t(14;15) in a pediatric BL/L patient. To our knowledge, this is the first report of a translocation t(14;15)(q32;q22) as a secondary alteration in a BL/L patient. The patient had multiple complications at diagnosis but he evolved favorably reaching complete remission. The description of new secondary alterations in this pathology as well as their impact on clinical evolution, add information to the biological characterization of BL, contributing to a higher accuracy in the diagnosis and/or prognosis of the disease.

Prevalence of diabetes mellitus in Spanish primary care setting and its association with cardiovascular risk factors and cardiovascular diseases. SIMETAP-DM study. / Prevalencia de diabetes mellitus en el ámbito de la atención primaria española y su asociación con factores de riesgo cardiovascular y enfermedades cardiovasculares. Estudio SIMETAP-DM.

INTRODUCTION: The aims of this study were to determine the age- and sex-adjusted prevalence rates of DM, type-1 DM (T1DM), and type-2 DM (T2DM), and to compare the relationship with cardiovascular risk factors, cardiovascular diseases, chronic kidney disease, and metabolic diseases between populations with and without DM. METHODS: SIMETAP-DM is a cross-sectional observational study conducted in a Primary Care setting with a random population-based sample of 10,579 adults. Response rate: 66%. The diagnoses of DM, T1DM and T2DM were based on clinical and biochemical criteria and/or the checking of these diagnoses in the medical records. The crude and age- and sex-adjusted (standardised for Spanish population) prevalence rates were calculated. RESULTS: The crude prevalence rates of T1DM, T2DM, and DM were 0.87% (95% confidence interval [95% CI]: 0.67-1.13), 14.7% (95% CI: 13.9-15.6), and 15.6% (95% CI: 14.7-16.5), respectively. The age- and sex-adjusted prevalence rates of T1DM, T2DM, and DM were 1.0% (1.3% for men and 0.7% for women), 11.5% (13.6% for men and 9.7% for women), and 12.5% (14.9% for men and 10.5% for women), respectively. The prevalence of DM in the population≥70 years was double (30.3% [95% CI: 28.0-32.7]) that of the population between 40 and 69 years (15.3% [95% CI: 14.1-16.5]). Hypertension, peripheral arterial disease, increased waist-to-height ratio, albuminuria, coronary heart disease, atherogenic dyslipidaemia and hypercholesterolaemia were associated with DM. CONCLUSIONS: In a Spanish primary care setting, the age-adjusted prevalences of T1DM, T2DM and DM in the adult population were 1.0, 11.5, and 12.5%, respectively. One-third (33%) of the population over 70 years had DM.

Prevalence of erectile dysfunction in Spanish primary care setting and its association with cardiovascular risk factors and cardiovascular diseases. SIMETAP-ED study.

INTRODUCTION: Few studies conducted in primary care setting report about age-adjusted prevalence rates of erectile dysfunction (ED). Aims of SIMETAP-ED study were to determine crude and age-adjusted prevalence rates of ED diagnosis, to compare these rates with other similar studies, and to compare prevalence rates of cardiovascular risk factors (CVRF), cardiovascular diseases (CVD), metabolic diseases and chronic kidney disease (CKD) between populations with and without ED. METHODS: Cross-sectional observational study conducted in primary care setting. Population-based random sample: 2934 adult men. Response rate: 66%. A clinical interview was conducted to diagnose ED using a question derived from ED definition. The medical records of patients were reviewed to identify their CVRF and diseases associated with ED. The age-adjustments were standardized to Spanish population. RESULTS: The prevalence rates of metabolic diseases, CVD, CVRF, and CKD in population with ED were higher than population without ED, highlighting the CVD. The crude prevalence of ED was 17.2% (95% confidence interval: 15.8-18.6). The age-adjusted prevalence rates of ED were 0.71% in men under 40 years, 12.4% in men over 18 years, 10.8% in men aged 40-69 years, 18.9% in men over 40 years, and 48.6% in men over 70 years. CONCLUSIONS: SIMETAP-ED study showed association of ED with metabolic diseases, CKD, CVRF, and highlighting CVD. The age-adjusted prevalence of ED was 12.4% in adult men, 19% in men over 40 years, and almost 50% in men over 70 years.

Population and methodology of the SIMETAP study: Prevalence of cardiovascular risk factors, cardiovascular diseases, and related metabolic diseases. / Población y metodología del estudio SIMETAP: Prevalencia de factores de riesgo cardiovascular, enfermedades cardiovasculares y enfermedades metabólicas relacionadas.

The prevention of cardiovascular disease is based on the detection and control of cardiovascular risk factors (CVRF). In Spain there are important geographical differences both in the prevalence and in the level of control of the CVRF. In the last decade there has been an improvement in the control of hypertension and dyslipidaemia, but a worsening of cardio-metabolic risk factors related to obesity and diabetes. The SIMETAP study is a cross-sectional descriptive, observational study being conducted in 64 Primary Care Centres located at the Community of Madrid. The main objective is to determine the prevalence rates of CVRF, cardiovascular diseases, and metabolic diseases related to cardiovascular risk. A report is presented on the baseline characteristics of the population, the study methodology, and the definitions of the parameters and diseases under study. A total of 6,631 study subjects were selected using a population-based random sample. The anthropometric variables, lifestyles, blood pressure, biochemical parameters, and pharmacological treatments were determined. The highest crude prevalences were detected in smoking, physical inactivity, obesity, prediabetes, diabetes, hypertension, dyslipidaemias, and metabolic syndrome. A detailed analysis needs to be performed on the prevalence rates, stratified by age groups, and prevalence rates adjusted for age and sex to assess the true epidemiological dimension of these CVRF and diseases.

Demographic data, natural history, and prognostic factors of idiopathic thrombocytopenic purpura in children: a multicentered study from Argentina.

BACKGROUND: Demographics, outcome, and management of idiopathic thrombocytopenic purpura (ITP) in children present differences between countries. Although several factors influence outcome, it is impossible to predict at diagnosis which patients will have acute or chronic disease. High rates of spontaneous remission in chronic ITP have been reported. PROCEDURE: Data concerning 1,683 patients with ITP diagnosed from 1981 to date are presented; outcome was evaluated in 1,418 children. RESULTS: Remarkable presenting features were an incidence peak in the first 2 years of age and male predominance in patients <24 months of age. Three age groups with different recovery rates (P < 0.001) were established (2-12 months: 89.8%; 1-8 years: 71.3%; 9-18 years: 49.0%). Platelet count <10 x 10(9)/L and history of previous illness were associated with higher remission rates only in patients >12 months of age. The score developed by the NOPHO Group showed a predictive value of 83.9% for acute ITP. Spontaneous remission between 6 months and 11 years from diagnosis was achieved by 107 of 325 (32.9%) non-splenectomized children with chronic ITP, and in 44.9% of them between 6 and 12 months from diagnosis. CONCLUSIONS: Age and score were main prognostic factors. Infants <1 year of age are a special group with a brief course and very high recovery rate that are not influenced by other prognostic factors. Definition of groups based on age and scoring could be useful to establish differential management guidelines. The cut-off value to define chronic ITP should be changed to 12 months.