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2.
Clin Investig Arterioscler ; 34(3): 130-179, 2022.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-35090775

RESUMO

One of the objectives of the Spanish Society of Arteriosclerosis is to contribute to better knowledge of vascular disease, its prevention and treatment. It is well known that cardiovascular diseases are the leading cause of death in our country and entail a high degree of disability and health care costs. Arteriosclerosis is a multifactorial disease and therefore its prevention requires a global approach that takes into account the different risk factors with which it is associated. Therefore, this document summarizes the current level of knowledge and includes recommendations and procedures to be followed in patients with established cardiovascular disease or at high vascular risk. Specifically, this document reviews the main symptoms and signs to be evaluated during the clinical visit, the laboratory and imaging procedures to be routinely requested or requested for those in special situations. It also includes vascular risk estimation, the diagnostic criteria of the different entities that are cardiovascular risk factors, and makes general and specific recommendations for the treatment of the different cardiovascular risk factors and their final objectives. Finally, the document includes aspects that are not usually referenced in the literature, such as the organization of a vascular risk consultation.


Assuntos
Arteriosclerose , Doenças Cardiovasculares , Arteriosclerose/complicações , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/etiologia , Doenças Cardiovasculares/prevenção & controle , Fatores de Risco de Doenças Cardíacas , Humanos , Fatores de Risco
3.
Rev. clín. esp. (Ed. impr.) ; 220(5): 282-289, jun.-jul. 2020. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-194966

RESUMO

OBJETIVO: Conocer el manejo de la dislipemia en atención primaria tras la publicación de la Guía de la American College of Cardiology/American Heart Association (ACC/AHA) del año 2013 y el algoritmo de la Administración. MÉTODO: Estudio transversal descriptivo con encuesta a médicos de atención primaria de la Comunidad Valenciana entre enero y octubre de 2016. RESULTADOS: Participaron 199 facultativos con una media (desviación típica) de 48,9 (11) años de edad y 21,3 (11,1) años de experiencia. Las guías más seguidas eran las de la European Society of Cardiology (37,5%) y las de la Administración (23,4%). El 6,3% seguía la de la ACC/AHA 2013. El 88% establecía objetivos según colesterol LDL y riesgo cardiovascular. La elección del hipolipemiante estaba basada en su capacidad reductora de colesterol LDL (28,6%), algoritmo de la Administración (23,4%) y seguridad (20,4%). Estatinas, ezetimiba y fibratos eran los hipolipemiantes preferidos, y la combinación (51%) e incremento de dosis (35%) las estrategias en ausencia de control. Se determinaba perfil lipídico, transaminasas y creatincinasa cada 6 (59,5; 52,3 y 54,3%, respectivamente) o 12 meses (25,1; 29,2 y 30,3%, respectivamente). Un 41% era conocedor de la polémica con la Guía ACC/AHA 2013, y aunque un 60% reconocía su relevancia, solo un 21% modificó su quehacer diario por ella. CONCLUSIONES: El algoritmo de la Administración tuvo mayor impacto que la Guía ACC/AHA 2013 en atención primaria. Campos de mejora fueron el bajo uso de guías y tablas de riesgo validadas, y racionalización de la periodicidad de las analíticas


OBJECTIVE: To determine the management of dyslipidaemia in primary care after the publication of the American College of Cardiology/American Heart Association (ACC/AHA) 2013 guidelines and Valencian government's algorithm. METHOD: We conducted a cross-sectional descriptive study that employed a survey of primary care physicians of the Community of Valencia between January and October 2016. RESULTS: A total of 199 physicians (mean age, 48.9±11.0 years; experience, 21.3±11.1 years) participated in the survey. The most followed guidelines were those of the European Society of Cardiology (37.5% of respondents) and Valencian government (23.4% of respondents). Some 6.3% of the respondents followed the 2013 ACC/AHA guidelines, and 88.0% established objectives based on LDL cholesterol and cardiovascular risk. The choice of lipid-lowering drug was based on its LDL cholesterol lowering capacity (28.6% of respondents), on the Valencian government's algorithm (23.4%) and on the drug's safety (20.4%). Statins, ezetimibe and fibrates were the preferred hypolipemiant agents, and their combination (51% of respondents) and dosage increases (35%) were the strategies employed for poor control. Lipid profile and transaminase and creatine kinase levels were measured every 6 (59.5%, 52.3% and 54.3% of respondents, respectively) or 12 months (25.1%, 29.2% and 30.3%, respectively). Forty-one percent of the respondents were aware of the controversy surrounding the 2013 ACC/AHA guidelines. Although 60% of the respondents acknowledged its relevance, only 21% changed their daily practices accordingly. CONCLUSIONS: The Valencian government's algorithm had a greater impact than the 2013 ACC/AHA guidelines in primary care in Valencia. Areas for improvement included the low use of validated guidelines and risk tables and the streamlining of laboratory test periodicity


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Dislipidemias/tratamento farmacológico , Guias de Prática Clínica como Assunto/normas , Protocolos Clínicos , Algoritmos , Estudos Transversais , Fatores de Risco , Atenção Primária à Saúde , Médicos , Inquéritos e Questionários , American Heart Association , Sociedades Médicas , Padrões de Prática Médica
4.
Rev Clin Esp (Barc) ; 220(5): 282-289, 2020.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-31744620

RESUMO

OBJECTIVE: To determine the management of dyslipidaemia in primary care after the publication of the American College of Cardiology/American Heart Association (ACC/AHA) 2013 guidelines and Valencian government's algorithm. METHOD: We conducted a cross-sectional descriptive study that employed a survey of primary care physicians of the Community of Valencia between January and October 2016. RESULTS: A total of 199 physicians (mean age, 48.9±11.0 years; experience, 21.3±11.1 years) participated in the survey. The most followed guidelines were those of the European Society of Cardiology (37.5% of respondents) and Valencian government (23.4% of respondents). Some 6.3% of the respondents followed the 2013 ACC/AHA guidelines, and 88.0% established objectives based on LDL cholesterol and cardiovascular risk. The choice of lipid-lowering drug was based on its LDL cholesterol lowering capacity (28.6% of respondents), on the Valencian government's algorithm (23.4%) and on the drug's safety (20.4%). Statins, ezetimibe and fibrates were the preferred hypolipemiant agents, and their combination (51% of respondents) and dosage increases (35%) were the strategies employed for poor control. Lipid profile and transaminase and creatine kinase levels were measured every 6 (59.5%, 52.3% and 54.3% of respondents, respectively) or 12 months (25.1%, 29.2% and 30.3%, respectively). Forty-one percent of the respondents were aware of the controversy surrounding the 2013 ACC/AHA guidelines. Although 60% of the respondents acknowledged its relevance, only 21% changed their daily practices accordingly. CONCLUSIONS: The Valencian government's algorithm had a greater impact than the 2013 ACC/AHA guidelines in primary care in Valencia. Areas for improvement included the low use of validated guidelines and risk tables and the streamlining of laboratory test periodicity.

5.
Eur J Nutr ; 58(3): 1331-1337, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29520627

RESUMO

PURPOSE: Our aim was to evaluate the postprandial effect of an oral fat load test (OFLT) rich in unsaturated fatty acids on gene expression profile in peripheral blood mononuclear cells (PBMC) from subjects with abdominal obesity as an insulin resistance model and controls. METHODS: A total of 20 controls and 20 abdominal obese patients were studied. Metabolic parameters and oxidative stress markers were measured with standardized protocols. The whole gene expression at fasting state and after the OFLT (0, 4 and 8 h) was analysed using human HT-12-v4 expression beadchips, from Illumina. RESULTS: We found a significant decrease in plasma glucose, insulin and oxidative stress markers in abdominal obese patients and controls. We found beneficial metabolic postprandial gene expression in three genes: FKBP5, DDIT4 and DHRS9. Following an OFLT, the postprandial mRNA expression of FKBP5, and DDIT4 was downregulated while that of DHRS9 was overexpressed, both in nondiabetic normolipidemic subjects and in insulin-resistant subjects with abdominal obesity. CONCLUSIONS: Our results suggest that an OFLT rich in unsaturated fatty acids downregulates the expression of FKBP5, coding for the glucocorticoid receptor pathway, and that of DDIT4, involved in the oxidative stress response. These changes could favourably influence the insulin resistance and oxidative stress status in the postprandial state.


Assuntos
Gorduras Insaturadas/administração & dosagem , Perfilação da Expressão Gênica/métodos , Leucócitos Mononucleares/metabolismo , Obesidade Abdominal/genética , Obesidade Abdominal/metabolismo , Administração Oral , Adolescente , Adulto , Idoso , Glicemia/metabolismo , Gorduras Insaturadas/farmacologia , Feminino , Humanos , Insulina/sangue , Masculino , Pessoa de Meia-Idade , Estresse Oxidativo , Período Pós-Prandial , Adulto Jovem
8.
Int J Clin Pract ; 67(1): 81-8, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23241052

RESUMO

BACKGROUND: Low-density lipoprotein cholesterol (LDL-C) remains the primary target of therapy in most strategies of dyslipidaemia management focused on cardiovascular disease prevention. Different guidelines have identified specific LDL-C cut-off points as targets for therapeutic intervention. Many clinical situations characterised by dyslipidaemia and elevated triglycerides are common in our environment and in overall industrialised countries. Thus, lipid goals based only on LDL-C could misclassify an important percentage of subjects. The objective of the present study was to establish cut-off point values for apoB and non-HDL-C in relation to the identified LDL-C cut-off points for cardiovascular risk in a South European population. METHODS: We performed a cross-sectional study including 1501 subjects (770 women and 731 men) between 18 and 80 years of age. Samples were collected after 12-14 h of fasting. Cholesterol, HDL-C, triglycerides and apoB levels were measured using direct methods. LDL-C was calculated by the Friedewald formula. Non-HDL-C was calculated as total cholesterol minus HDL-C. RESULTS: The Spearman's rank correlations between apoB and LDL-C (r 0.86, p < 0.0001), and between apoB and non-HDL-C (r 0.91, p < 0.0001) were both significant. The proposed cut-off points for apoB, according to LDL-C goals (70, 100, 130 and 160 mg/dl) in our population are 70, 80, 100 and 115 mg/dl respectively. The proposed cut-off values for non-HDL-C are 100, 120, 150 and 190 mg/dl respectively. CONCLUSION: The established LDL-C cut-off values could not be accurate to estimate cardiovascular risk in subjects with mild hypertriglyceridaemia, as frequently occurs in our Mediterranean population. To take into consideration the burden of atherogenic particles and better classify patients at risk we propose cut-off values for apoB or the equivalent for non-HDL-C. Prospective trials including cardiovascular variables are needed to validate our assumption.


Assuntos
Apolipoproteínas B/sangue , HDL-Colesterol/sangue , LDL-Colesterol/sangue , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Doenças Cardiovasculares/sangue , Doenças Cardiovasculares/etnologia , Estudos Transversais , Feminino , Humanos , Hipertrigliceridemia/sangue , Hipertrigliceridemia/etnologia , Masculino , Pessoa de Meia-Idade , Valores de Referência , Espanha/etnologia , Triglicerídeos/sangue , Adulto Jovem
9.
Atheroscler Suppl ; 11(1): 25-9, 2010 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-20427243

RESUMO

Lipoprotein transport is thought to occur in the plasma compartment of the blood, where lipoproteins are modulated by various enzymatic reactions. Subsequently, lipoproteins can migrate through the endothelial barrier to the subendothelial space or are taken up by the liver. The interaction between pro-atherogenic (apoB-containing) lipoproteins and blood cells (especially monocytes and macrophages) in the subendothelial space is well known. This lipoprotein-inflammatory cell interplay is central in the development of the atherosclerotic plaque. In this review, a novel interaction is described between lipoproteins and both leukocytes and erythrocytes in the blood compartment. This lipoprotein-blood cell interaction may also be related to the process of atherosclerosis by inducing inflammatory changes in the case of leukocytes (pro-atherogenic) and as an anti-atherogenic transport-system by adherence to erythrocytes. Triglyceride rich lipoprotein (TRL)-mediated leukocyte activation can lead to an inflammatory situation with generation of oxidative stress and the production of cytokines, ultimately resulting in acute endothelial dysfunction. Binding of apoB containing lipoproteins to erythrocytes may be a potential anti-atherogenic mechanism protecting the vessel wall from the pro-inflammatory effects of these lipoproteins and also playing a role in the removal of these particles from the circulation. One of the proposed mechanisms of this interaction implies complement activation on the lipoprotein surface and binding to the Complement Receptor 1 (CR1) on erythrocytes and leukocytes, followed by clearance by the liver.


Assuntos
Aterosclerose/prevenção & controle , Lipoproteínas/metabolismo , Animais , Apolipoproteínas B/metabolismo , Aterosclerose/imunologia , Aterosclerose/metabolismo , Transporte Biológico , Ativação do Complemento , Eritrócitos/metabolismo , Humanos , Mediadores da Inflamação/metabolismo , Leucócitos/metabolismo , Lipoproteínas/sangue , Fígado/metabolismo
10.
Diabetes Metab Res Rev ; 26(2): 115-20, 2010 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-20135633

RESUMO

BACKGROUND: To examine the association of biochemical markers of risk (plasma Hcy, microalbuminuria, lipoprotein (a)(Lp(a)) and diabetic dyslipidaemia) with the prevalence of diabetic foot ulceration in type 2 diabetic patients. METHODS: Case/control study conducted in 198 type 2 diabetic patients. 89 patients have foot ulcers and 109 have no foot ulcers (control group), in order to establish ORs for diabetic foot ulceration. In all subjects plasma Hcy, Lp(a), total cholesterol, triglycerides, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, apolipoprotein B, HbA(1c) and microalbuminuria were measured using standard procedures. RESULTS: Plasma Hcy, microalbuminuria, HbA(1c) and apolipoprotein B levels were significantly higher in patients with foot ulceration compared with the control group. Plasma lipids, Lp(a), vitamin B12 and folic acid values were similar in both groups. In the logistic regression model, plasma Hcy (OR 1.09; 95% CI 1.04-1.69), microalbuminuria (OR 1,01; 95% CI 1.01-1.17) and HbA(1c) levels (OR 1.33; 95% CI 1.04-1.69) were independent risk factors for the presence of diabetic foot ulceration. CONCLUSIONS: In our study, for each micromol increase in plasma Hcy levels there was a 10% increase in the risk of diabetic foot ulceration. In addition, plasma homocysteine, HbA(1c) and microalbuminuria accounted for 50% prevalence risk of diabetic foot ulceration. Further prospective studies should be conducted to confirm the association of plasma Hcy levels with the risk of foot ulceration.


Assuntos
Diabetes Mellitus Tipo 2/sangue , Pé Diabético/sangue , Homocisteína/sangue , Adulto , Idoso , Albuminúria/complicações , Apolipoproteínas B/sangue , Estudos de Casos e Controles , Pé Diabético/etiologia , Feminino , Hemoglobinas Glicadas/metabolismo , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Vasculares Periféricas/complicações , Risco
11.
Nutr Metab Cardiovasc Dis ; 20(10): 734-9, 2010 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19765958

RESUMO

BACKGROUND AND AIMS: Xanthine oxidase (XO) has been described as one of the major enzymes producing free radicals in blood. Oxidative stress and inflammatory processes have been implicated in the pathogenesis of endothelial dysfunction and the progression of atherosclerosis but until now, there is little data about the influence of vascular prooxidant systems and inflammation in familial combined hyperlipidemia (FCH). Our goal was to evaluate whether XO activity was altered in FCH and if it was related to the inflammatory process represented by NFkB, IL-6 and hsCRP, and assessing the correlation between XO activity and insulin resistance (IR). METHOD AND RESULTS: 40 Non-related subjects with FCH and 30 control subjects were included, all of them non-diabetic, normotensive and non-smokers. We measured lipid profile, glucose, insulin, uric acid, XO activity, malondialdehyde (MDA), IL-6 and hsCRP in plasma and NFkB activity in circulating mononuclear cells. Patients with FCH showed significantly higher levels of uric acid, XO activity, MDA, NFkB activity, IL-6 and hsCRP than controls. XO activity was independently related to NFkB activity with an odds ratio of 4.082; to IL-6 with an odds ratio of 4.191; and to IR with an odds ratio of 3.830. Furthermore, mean NFkB activity, IL-6 levels, and IR were highest in the highest percentile of XO activity. CONCLUSIONS: Subjects with FCH showed increased XO and NFkB activities and low grade inflammatory markers related to atherosclerosis. XO activity was correlated with higher inflammatory activity and IR. These data could explain, in part, the high cardiovascular disease risk present in these patients.


Assuntos
Hiperlipidemia Familiar Combinada/complicações , Inflamação/complicações , NF-kappa B/metabolismo , Xantina Oxidase/sangue , Xantina Oxidase/metabolismo , Adulto , Aterosclerose/patologia , Biomarcadores , Proteína C-Reativa/metabolismo , Endotélio Vascular/fisiopatologia , Feminino , Radicais Livres/metabolismo , Humanos , Hiperlipidemia Familiar Combinada/metabolismo , Inflamação/metabolismo , Resistência à Insulina , Interleucina-6/sangue , Interleucina-6/metabolismo , Peroxidação de Lipídeos , Lipídeos/sangue , Modelos Logísticos , Masculino , Malondialdeído/sangue , Malondialdeído/metabolismo , Pessoa de Meia-Idade , Análise Multivariada , NF-kappa B/sangue , Estresse Oxidativo
12.
Eur J Clin Invest ; 40(2): 89-94, 2010 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-20015244

RESUMO

BACKGROUND: Few data are available on circulating mononuclear cells nuclear factor-kappa B (NF-kB) activity and plasma xanthine oxidase (XO) activity in heterozygous familial hypercholesterolaemia (FH). The goal of the study was to analyse circulating mononuclear cells NF-kB and plasma XO activities in FH patients. MATERIALS AND METHODS: Thirty FH index patients and 30 normoglycaemic normocholesterolaemic controls matched by age, gender, body mass index, abdominal circumference and homeostasis model assessment index were studied. Plasma XO and inflammatory markers were measured by standard methods. NF-kB was assayed in circulating mononuclear cells. RESULTS: Familial hypercholesterolaemia patients showed a significantly higher NF-kB (75.0 +/- 20.7 vs. 42.7 +/- 16.8 relative luminiscence units) and XO (0.44 +/- 0.13 vs. 0.32 +/- 0.09 mU mL(-1)) activities than controls. In addition, interleukin-1, interleukin-6, high sensitivity C reactive protein (hsCRP) and oxidized LDL (LDL-ox) were also significantly higher in FH patients. In the total group (FH and controls), XO was significantly associated with LDL-cholesterol (LDL-C), apolipoprotein B (apoB), NF-kB and hsCPR, and NF-kB activity was significantly associated with XO, hsCPR, LDL-ox, LDL-C and apoB plasma values. Using multiple regression analysis, XO was independently associated with hsCPR and NF-kB, and NF-kB activity in circulating mononuclear cells was independently associated with apoB and LDL-ox plasma values. CONCLUSION: Familial hypercholesterolaemia patients show increased activities of NF-kB and XO, and higher values of low grade inflammatory markers related to atherosclerosis. NF-kB activity was independently associated with apoB plasma values. These data could explain in part the high cardiovascular disease risk present in these patients.


Assuntos
Hiperlipoproteinemia Tipo II/sangue , Inflamação/sangue , NF-kappa B/sangue , Xantina Oxidase/sangue , Adulto , Biomarcadores/sangue , Doenças Cardiovasculares/sangue , Feminino , Humanos , Hiperlipoproteinemia Tipo II/metabolismo , Inflamação/complicações , Interleucina-1/sangue , Interleucina-6/sangue , Lipoproteínas/sangue , Masculino , Pessoa de Meia-Idade , Monócitos/metabolismo , NF-kappa B/metabolismo , Análise de Regressão , Risco , Xantina Oxidase/metabolismo
13.
Nutr. hosp ; 23(5): 500-504, sept.-oct. 2008. ilus, tab
Artigo em En | IBECS | ID: ibc-68200

RESUMO

Objectives: Diarrhea is a frequent complication associated to enteral tube feeding (ETF) and it is a frequent cause of reduction or suspension of this type of nutritional support. Our objective was to evaluate the factors associated with nosocomial diarrhea in patients receiving ETF. Results: The only significant factor associated with the appearance of diarrhea was antibiotic consumption, specially those patients receiving the combination of two or more antibiotics. We did not find any association between factors related to ETF, analytical parameters, nor other medications and diarrhea. Conclusions: Our observational data supports the idea that ETF should not be seen as a primary cause of diarrhea, other possible causes should be considered before reducing or discontinuing ETF administration (AU)


Objetivos: La diarrea es una complicación frecuente asociada a la nutrición enteral (NE) y es causa habitual de reducción o suspensión de este tipo de soporte nutricional. Nuestro objetivo fue evaluar los factores asociados a la diarrea nosocomial en pacientes que recibían NE. Resultados: El único factor significativo asociado con la aparición de diarrea fue el consumo de antibióticos, especialmente aquellos pacientes que recibían la combinación de dos o más antibióticos. No se encontró ninguna asociación entre factores relacionados a la NE, parámetros analíticos, ni otras medicaciones y la diarrea. Conclusión: Nuestros datos observacionales respaldan la idea que la NE no debería ser vista como causa principal de diarrea, debiéndose considerar otras causas posibles antes de reducir o suspender la administración de NE (AU)


Assuntos
Humanos , Diarreia/epidemiologia , Nutrição Enteral/efeitos adversos , Infecção Hospitalar/epidemiologia , Fatores de Risco , Diarreia/etiologia , Antibacterianos/efeitos adversos , Infecção Hospitalar/etiologia
14.
Nutr Hosp ; 23(5): 500-4, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-19160901

RESUMO

OBJECTIVES: Diarrhea is a frequent complication associated to enteral tube feeding (ETF) and it is a frequent cause of reduction or suspension of this type of nutritional support. Our objective was to evaluate the factors associated with nosocomial diarrhea in patients receiving ETF. RESULTS: The only significant factor associated with the appearance of diarrhea was antibiotic consumption, specially those patients receiving the combination of two or more antibiotics. We did not find any association between factors related to ETF, analytical parameters, nor other medications and diarrhea. CONCLUSIONS: Our observational data supports the idea that ETF should not be seen as a primary cause of diarrhea, other possible causes should be considered before reducing or discontinuing ETF administration.


Assuntos
Antibacterianos/efeitos adversos , Infecção Hospitalar/etiologia , Diarreia/etiologia , Nutrição Enteral/efeitos adversos , Idoso , Idoso de 80 Anos ou mais , Antibacterianos/administração & dosagem , Diarreia/induzido quimicamente , Quimioterapia Combinada , Humanos , Pessoa de Meia-Idade , Fatores de Risco
15.
Av. diabetol ; 23(6): 413-418, nov.-dic. 2007. tab
Artigo em Espanhol | IBECS | ID: ibc-135700

RESUMO

Un gran número de enfermedades tienen origen genético o están influidas por variantes genéticas. Algunas formas de diabetes son de origen monogénico (MODY y síndromes diabéticos) pero la más común, la diabetes mellitus tipo 2, es una enfermedad multifactorial causada por una interrelación entre variantes genéticas y ambientales. Hasta la fecha, se conoce poco acerca de la genética de la diabetes y sobre qué factores genéticos están implicados en su regulación y en el daño orgánico que se origina. El conocimiento de la genética de la diabetes mejorará la comprensión de esta enfermedad tan importante en nuestra sociedad, permitiendo una mejor prevención y tratamiento. El presente seminario pretende exponer los principales puntos que deben tenerse en cuenta cuando se diseña un estudio genético sobre diabetes (entre ellos el tipo de investigación, la patogenicidad de las variaciones o las asociaciones genotipo-fenotipo), así como explicar el fundamento para la extracción de ADN y ARN y las pautas para su almacenamiento (AU)


A wide number of diseases have a genetic origin or are influenced by genetic variants. Some forms of diabetes are monogenic (MODY and diabetic syndromes) but the most common one, type 2 diabetes, is a multifactorial disease caused by an interrelation of genetic variants and the environment. Up to date, little is known about the genetics of diabetes and genetic factors involved in its regulation and the associated organ damage. Understanding diabetes genetics will improve our understanding of such an important disease in our society, allowing a better prevention and treatment. The current seminar will try to point out the keys to take into account when planning a genetic study in diabetes research, such as the study type, variant pathogenicity, genotype-phenotype associations, etc., and will explain the DNA and RNA extraction methodology and storage guidelines (AU)


Assuntos
Humanos , Diabetes Mellitus Tipo 2/genética , Técnicas Genéticas , RNA/isolamento & purificação , DNA/isolamento & purificação , Projetos de Pesquisa , Marcadores Genéticos , /métodos , Polimorfismo Genético , Mutação , Manejo de Espécimes/métodos
16.
Av. diabetol ; 23(6): 419-424, nov.-dic. 2007. tab
Artigo em Espanhol | IBECS | ID: ibc-135701

RESUMO

La metodología para el estudio del ADN, el ARN y las proteínas ha experimentado un gran avance en los últimos años, existiendo en la actualidad numerosas técnicas para la investigación de diferentes aspectos de estas moléculas. Así, hoy en día es posible analizar desde uno o unos pocos polimorfismos a millones de ellos en un solo experimento, fenómeno que se repite para el estudio de los niveles de ARN y proteínas. En relación con la productividad o el número de datos que proporcionan las diferentes técnicas, éstas pueden clasificarse como de bajo, medio o alto rendimiento. Esta metodología puede aplicarse al estudio de aspectos muy variados de la diabetes, como pueden ser sus causas, los factores de riesgo, las consecuencias de la diabetes a nivel orgánico y celular en los diferentes tejidos, sus complicaciones crónicas, etc. En este seminario expondremos unas nociones generales sobre las técnicas más importantes para el estudio del ADN, el ARN y las proteínas, aplicadas a la diabetes (AU)


The methodology for the study of DNA, RNA and proteins has been greatly improved in recent years. Nowadays, we can study from one or several polymorphisms to millions in a single experiment; the situation is similar in the study of RNA or protein levels. On the basis of the productivity or the number of data provided by the different techniques, we can classify their throughput as low, medium or high. All this technology can be used to investigate different aspects of diabetes, such as the causes, risk factors, consequences at the organ r cellular levels in different tissues, chronic complications, etc. In this review, we discuss the general aspects of the most innovative techniques in the analysis of DNA, RNA and proteins as applied to diabetes (AU)


Assuntos
Humanos , Diabetes Mellitus/genética , Técnicas Genéticas , RNA/isolamento & purificação , DNA/isolamento & purificação , Proteômica/métodos , Polimorfismo Genético , Complicações do Diabetes/genética , Técnicas de Imunoadsorção , Análise de Sequência de RNA , Análise de Sequência de DNA , Metilação de DNA
17.
An. med. interna (Madr., 1983) ; 24(11): 543-546, nov. 2007. ilus
Artigo em Es | IBECS | ID: ibc-62356

RESUMO

La amiodarona puede alterar la función tiroidea en un 15-20% de los pacientes que la toman, dando lugar a hipotiroidismo o hipertiroidismo. La sobrecarga de yodo y la toxicidad directa sobre el tiroides inducida por amiodarona pueden provocar hipertiroidismo. Describimos un caso de tirotoxicosis grave por amiodarona que se diagnosticó buscando la causa que descompensó la cardiopatía de base del paciente, condicionando ésta el pronóstico y el manejo terapéutico. El tratamiento precisó un estrecho seguimiento y se basó en dosis elevadas de propiltiouracilo y dexametasona que no controlaron las consecuencias del hipertiroidismo a nivel cardiaco necesitando la tiroidectomia total. Creemos, con la experiencia aportada, que en determinados casos la cirugía es una opción que debería ser planteada con más precocidad


Amiodarone causes changes in thyroid function tests in about 15-20% of patients, inducing either hypothyroidism or thyrotoxicosis. The iodine load and the destructive thyroiditis caused by amiodarone produce thyrotoxicosis. We report a case of amiodarone-induced thyrotoxicosis diagnosed when investigating the reason for worsening of cardiac funtion. Prognosis and treatment of cardiac disorder were determined by thyrotoxicosis. The management needed a closed monitoring of thryroid function. Treatment was based on high doses of propylthiouracil and dexametasone, but they couldn´t control cardiac condition and surgery was warranted. When amiodarone-induced thyrotoxicosis is refractory to medical treatment, we belive surgery should be considered earlier


Assuntos
Humanos , Masculino , Idoso , Hipertireoidismo/induzido quimicamente , Amiodarona/efeitos adversos , Hipertireoidismo/cirurgia , Corticosteroides/efeitos adversos , Tireoidectomia/métodos
18.
An Med Interna ; 24(11): 543-6, 2007 Nov.
Artigo em Espanhol | MEDLINE | ID: mdl-18275264

RESUMO

Amiodarone causes changes in thyroid function tests in about 15-20% of patients, inducing either hypothyroidism or thyrotoxicosis. The iodine load and the destructive thyroiditis caused by amiodarone produce thyrotoxicosis. We report a case of amiodarone-induced thyrotoxicosis diagnosed when investigating the reason for worsening of cardiac function. Prognosis and treatment of cardiac disorder were determined by thyrotoxicosis. The management needed a closed monitoring of thyroid function. Treatment was based on high doses of propylthiouracil and dexamethasone, but they couldn t control cardiac condition and surgery was warranted. When amiodarone-induced thyrotoxicosis is refractory to medical treatment, we believe surgery should be considered earlier.


Assuntos
Amiodarona/efeitos adversos , Tireotoxicose/induzido quimicamente , Tireotoxicose/terapia , Idoso , Humanos , Masculino
19.
Nutr Hosp ; 21(4): 505-10, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-16913210

RESUMO

OBJECTIVES: The objectives of this study were to assess the quality of life (QoL), nutritional status, and quantitative food intakes of non-terminal admitted cancer patients receiving oral feeding. As well as to evaluate what kind of relation exists between the quality of life, and the nutritional status and current intake. SCOPE: Medical Oncology and Radiotherapy Service ward at the Hospital Clinic de Barcelona. SUBJECTS: Fifty admitted patients in the Service ward. INTERVENTIONS: There was a follow-up of the dietary intake during 3 working days through direct observation, as well as an assessment of anthropometrical and biochemical parameters, a record of symptomatology related data, and a QoL assessment through the EORTC QLQ-C30 questionnaire. RESULTS: Our data show that 32.6% of the patients did not reach 25 kcal/kg/day, and 23.3% did not even fulfill 1 g protein/kg/day. Concerning QoL, mean score for global health status and overall QoL for all patients was 46.2. Compared to the general population, there were important deficits among cancer patients regarding physical, role and social functioning. The most pronounced differences in the symptom scales were for fatigue, and in single items for appetite loss and constipation. A low protein intake was associated to a poorer perception on physical functioning (p = 0.01), and fatigue was close to significance (p = 0.058). No significant differences were found regarding caloric intake and QoL. CONCLUSIONS: A significant percentage of patients who received exclusive oral feeding did not cover a minimum acceptable quantity of their protein-energy requirements. Our results point-out that poor food intakes can affect QoL by themselves.


Assuntos
Dieta , Neoplasias , Estado Nutricional , Qualidade de Vida , Idoso , Cognição , Estudos Transversais , Interpretação Estatística de Dados , Ingestão de Energia , Exercício Físico , Fadiga , Feminino , Seguimentos , Nível de Saúde , Hospitalização , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias/fisiopatologia , Neoplasias/psicologia , Inquéritos e Questionários , Fatores de Tempo
20.
Nutr. hosp ; 21(4): 505-510, jul.-ago. 2006. ilus, tab
Artigo em En | IBECS | ID: ibc-048866

RESUMO

Objectives: The objectives of this study were to assess the quality of life (QoL), nutritional status, and quantitative food intakes of non-terminal admitted cancer patients receiving oral feeding. As well as to evaluate what kind of relation exists between the quality of life, and the nutritional status and current intake. Scope: Medical Oncology and Radiotherapy Service ward at the Hospital Clínic de Barcelona. Subjects: Fifty admitted patients in the Service ward. Interventions: There was a follow-up of the dietary intake during 3 working days through direct observation, as well as an assessment of anthropometrical and biochemical parameters, a record of symptomatology related data, and a QoL assessment through the EORTC QLQC30 questionnaire. Results: Our data show that 32.6% of the patients did not reach 25 kcal/kg/day, and 23.3% did not even fulfill 1 g protein/kg/day. Concerning QoL, mean score for global health status and overall QoL for all patients was 46.2. Compared to the general population, there were important deficits among cancer patients regarding physical, role and social functioning. The most pronounced differences in the symptom scales were for fatigue, and in single items for appetite loss and constipation. A low protein intake was associated to a poorer perception on physical functioning (p=0.01), and fatigue was close to significance (p=0.058). No significant differences were found regarding caloric intake and QoL. Conclusions: A significant percentage of patients who received exclusive oral feeding did not cover a minimum acceptable quantity of their protein-energy requirements. Our results point-out that poor food intakes can affect QoL by themselves


Objetivos: Los objetivos de este estudio fueron valorar la calidad de vida (QoL), el estado nutricional y la ingesta dietética cuantitativa realizada en pacientes oncológicos no terminales ingresados que recibieron alimentación oral. Así mismo evaluar qué tipo de relación existe entre la calidad de vida, y el estado nutricional y la ingesta actual. Ámbito: Servicio de Oncología Médica y Radioterapia del Hospital Clínic de Barcelona. Sujetos: Cincuenta pacientes ingresados en el Servicio. Intervenciones: Se realizó un seguimiento de la ingesta dietética durante 3 días hábiles mediante observación directa, así como una valoración de los parámetros antropométricos y bioquímicos, un registro de datos relativos a la sintomatología, y una valoración de la calidad de vida mediante el cuestionario EORTC QLQ-C30. Resultados: Nuestros datos muestran que un 32.6% de los pacientes no alcanzaron 25 kcal/kg/día, y un 23.3% no llegaron a cubrir 1 g proteína/kg/día. Respecto a la QoL, la puntuación media para el estado de salud global y la QoL global para todos los pacientes fue 46.2. Comparado con la población general, hubo déficits importantes entre los pacientes oncológicos respecto a la funcionalidad física, de rol y social. Las diferencias más pronunciadas en la escala de síntomas fueron para la fatiga y en los ítems simples, para la pérdida de apetito y el estreñimiento. La baja ingesta de proteínas se asoció con una percepción disminuida en la función física (p=0.01), la fatiga estuvo cerca de la significación estadística (p=0.058). No se encontraron diferencias significativas respecto a la ingesta calórica y la QoL. Conclusión: Un porcentaje significativo de pacientes que recibieron alimentación oral exclusiva no cubrieron una cantidad aceptable mínima de sus requerimientos energético- proteicos. Nuestros resultados apuntan que ingestas dietéticas escasas pueden afectar la QoL por sí mismas


Assuntos
Idoso , Pessoa de Meia-Idade , Humanos , Dieta , Estado Nutricional , Qualidade de Vida , Neoplasias/fisiopatologia , Neoplasias/psicologia , Cognição , Estudos Transversais , Interpretação Estatística de Dados , Ingestão de Energia , Exercício Físico , Fadiga , Seguimentos , Nível de Saúde , Hospitalização
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