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1.
Cancer Genet ; 258-259: 131-134, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34757246

RESUMO

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.


Assuntos
Linfoma de Burkitt/patologia , Cromossomos Humanos Par 14/genética , Cromossomos Humanos Par 8/genética , Translocação Genética , Linfoma de Burkitt/genética , Criança , Humanos , Masculino , Prognóstico
2.
Clín. investig. arterioscler. (Ed. impr.) ; 32(1): 15-26, ene.-feb. 2020. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-187003

RESUMO

Introducción: Los objetivos del estudio fueron determinar las tasas de prevalencia brutas y ajustadas por edad y sexo de diabetes mellitus (DM), DM tipo 1 (DM1) y DM tipo 2 (DM2), y comparar la asociación de factores de riesgo cardiovascular, enfermedades cardiovasculares, enfermedad renal crónica y enfermedades metabólicas entre las poblaciones con y sin DM. Métodos: SIMETAP-DM es un estudio observacional transversal realizado en atención primaria, con una muestra aleatoria de base poblacional de 10.579 adultos. Tasa de respuesta: 66%. Los diagnósticos de DM, DM1 y DM2 se basaron en criterios clínicos y bioquímicos y/o en la comprobación de estos diagnósticos en las historias clínicas. Se determinaron las prevalencias brutas y ajustadas por edad y sexo (estandarizadas con la población española). Resultados: Las prevalencias brutas de DM1, DM2 y DM fueron del 0,87% (intervalo de confianza al 95% [IC 95%]: 0,67-1,13), el 14,7% (IC 95%: 13,9-15,6) y el 15,6% (IC 95%: 14,7-16,5), respectivamente. Las prevalencias ajustadas por edad y sexo de DM1, DM2 y DM fueron del 1,0% (1,3% para hombres y 0,7% para mujeres), el 11,5% (13,6% para hombres y 9,7% para mujeres) y el 12,5% (14,9% para hombres y 10,5% para mujeres), respectivamente. La prevalencia de DM en la población ≥ 70 años era el doble (30,3% [IC 95%: 28,0-32,7]) que en la población entre 40 y 69 años (15,3% [IC 95%: 14,1-16,5%]). La hipertensión arterial, la enfermedad arterial periférica, el índice cintura-talla aumentado, la albuminuria, la enfermedad coronaria, la dislipidemia aterogénica y la hipercolesterolemia se asociaban con la DM. Conclusiones: En el ámbito de la atención primaria española, las prevalencias ajustadas por edad de DM1, DM2 y DM en la población adulta fueron del 1,0, el 11,5 y el 12,5%, respectivamente. Un tercio de la población mayor de 70 años padecía 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


Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Diabetes Mellitus/epidemiologia , Atenção Primária à Saúde , Fatores de Risco , Doenças Cardiovasculares/complicações , Espanha/epidemiologia , Doenças Cardiovasculares/epidemiologia , Doenças Metabólicas/epidemiologia , Nefropatias/epidemiologia , Estudos Transversais , Hipertensão/complicações , Diabetes Mellitus/economia , Diabetes Mellitus/classificação , Razão de Chances , Análise Multivariada
3.
Clin Investig Arterioscler ; 32(1): 15-26, 2020.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-31130360

RESUMO

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.


Assuntos
Doenças Cardiovasculares/epidemiologia , Diabetes Mellitus Tipo 1/epidemiologia , Diabetes Mellitus Tipo 2/epidemiologia , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Doenças Cardiovasculares/etiologia , Estudos Transversais , Diabetes Mellitus/epidemiologia , Feminino , Humanos , Masculino , Doenças Metabólicas/epidemiologia , Pessoa de Meia-Idade , Prevalência , Atenção Primária à Saúde , Insuficiência Renal Crônica/epidemiologia , Fatores de Risco , Distribuição por Sexo , Espanha/epidemiologia
4.
Clín. investig. arterioscler. (Ed. impr.) ; 31(3): 101-110, mayo-jun. 2019. graf, tab
Artigo em Inglês | IBECS | ID: ibc-182703

RESUMO

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


Introducción: Existen pocos estudios realizados en atención primaria sobre prevalencias ajustadas por edad de la disfunción eréctil (ED, por sus siglas en inglés). Los objetivos del estudio SIMETAP-ED fueron determinar las prevalencias crudas y ajustadas por edad del diagnóstico de la ED, comparar estas tasas con otros estudios similares, y comparar las prevalencias de factores de riesgo cardiovasculares (FRCV), enfermedades cardiovasculares (ECV), enfermedades metabólicas y enfermedad renal crónica (ERC) entre las poblaciones con y sin ED. Métodos: Estudio observacional transversal realizado en atención primaria. Muestra aleatoria base poblacional: 2.934 varones adultos. Tasa de respuesta: 66%. Se realizó una entrevista clínica para diagnosticar ED mediante una pregunta derivada de la definición de ED. Se revisaron las historias clínicas de los pacientes para identificar sus FRCV y enfermedades asociadas con la ED. Los ajustes de tasas se estandarizaron con respecto a la población española. Resultados: Las prevalencias de enfermedades metabólicas, ECV, FRCV y ERC en la población con ED fueron más altas que en la población sin ED, destacando las ECV. La prevalencia cruda de la ED fue del 17,21% (intervalo de confianza del 95%: 15,86-18,63). Las tasas de prevalencia ajustadas por edad de la ED fueron del 0,71% en menores de 40 años, del 12,4% en mayores de 18 años, del 10,8% en varones entre 40 y 69 años, del 18,9% en mayores de 40 años y del 48,6% en mayores de 70 años. Conclusiones: El estudio SIMETAP-ED mostró asociación de la ED con las enfermedades metabólicas, ERC, FRCV y, sobre todo, con ECV. La prevalencia ajustada por edad de la ED fue del 12,4% en varones adultos, del 19% en mayores de 40 años y casi del 50% en mayores de 70 años


Assuntos
Humanos , Masculino , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Disfunção Erétil/epidemiologia , Atenção Primária à Saúde , Fatores de Risco , Doenças Cardiovasculares/complicações , Doenças Cardiovasculares/fisiopatologia , Doenças Metabólicas/complicações , Insuficiência Renal Crônica/complicações , Estudos Transversais
5.
Clin Investig Arterioscler ; 31(3): 101-110, 2019.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-30979438

RESUMO

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.


Assuntos
Doenças Cardiovasculares/epidemiologia , Disfunção Erétil/epidemiologia , Doenças Metabólicas/epidemiologia , Insuficiência Renal Crônica/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Doenças Cardiovasculares/etiologia , Estudos Transversais , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Atenção Primária à Saúde , Fatores de Risco , Espanha , Adulto Jovem
6.
Clín. investig. arterioscler. (Ed. impr.) ; 30(5): 197-208, sept.-oct. 2018. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-175437

RESUMO

La prevención de la enfermedad cardiovascular se fundamenta en la detección y control de los factores de riesgo cardiovascular (FRCV). En España existen importantes diferencias territoriales tanto en la prevalencia como en el grado de control de los FRCV. En la última década ha habido una mejora del control de la hipertensión y la dislipidemia, pero un empeoramiento de los factores de riesgo cardiometabólicos relacionados con la obesidad y la diabetes. El estudio SIMETAP es un estudio observacional descriptivo transversal realizado en 64 centros de atención primaria de la Comunidad de Madrid. El objetivo principal es determinar las tasas de prevalencia de FRCV, de las enfermedades cardiovasculares y de las enfermedades metabólicas relacionadas con el riesgo cardiovascular. El presente artículo informa sobre las características basales de la población, la metodología del estudio, y las definiciones de los parámetros y enfermedades en estudio. Se seleccionaron 6.631 sujetos de estudio mediante una muestra aleatoria base poblacional. Se determinaron variables antropométricas, estilos de vida, presión arterial, parámetros bioquímicos, y tratamientos farmacológicos. Las prevalencias crudas más elevadas se detectaron en tabaquismo, inactividad física, obesidad, prediabetes, diabetes, hipertensión, dislipidemias y síndrome metabólico. Para valorar la verdadera dimensión epidemiológica de estas enfermedades y FRCV, es necesario realizar un análisis pormenorizado de tasas de prevalencia estratificadas por grupos etarios y de las tasas de prevalencia ajustadas por edad y sexo


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


Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Doenças Cardiovasculares/epidemiologia , Doenças Metabólicas/epidemiologia , Prevalência , Fatores de Risco , Epidemiologia Descritiva , Estudos Transversais/métodos , Estudo Observacional , Doenças Cardiovasculares/mortalidade , Doenças Cardiovasculares/prevenção & controle , Composição Corporal/fisiologia
7.
Clin Investig Arterioscler ; 30(5): 197-208, 2018.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-29980384

RESUMO

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.


Assuntos
Doenças Cardiovasculares/epidemiologia , Diabetes Mellitus/epidemiologia , Doenças Metabólicas/epidemiologia , Obesidade/epidemiologia , Adolescente , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Doenças Cardiovasculares/etiologia , Estudos Transversais , Dislipidemias/epidemiologia , Feminino , Humanos , Hipertensão/epidemiologia , Estilo de Vida , Masculino , Pessoa de Meia-Idade , Prevalência , Atenção Primária à Saúde , Fatores de Risco , Fatores Sexuais , Fumar/epidemiologia , Espanha/epidemiologia , Adulto Jovem
8.
Pediatr Blood Cancer ; 52(4): 491-6, 2009 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-19058214

RESUMO

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.


Assuntos
Púrpura Trombocitopênica Idiopática/epidemiologia , Púrpura Trombocitopênica Idiopática/fisiopatologia , Adolescente , Distribuição por Idade , Argentina/epidemiologia , Criança , Pré-Escolar , Demografia , Feminino , Humanos , Incidência , Lactente , Masculino , Prognóstico , Distribuição por Sexo
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