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1.
Rev. esp. anestesiol. reanim ; 67(3): 119-129, mar. 2020. ilus, tab, graf
Artigo em Espanhol | IBECS | ID: ibc-197699

RESUMO

OBJETIVO: El objetivo principal se centra en determinar si la implantación de un protocolo de traslado intrahospitalario (TIH) modifica la tasa anual de incidentes relacionados con la seguridad del paciente. Los objetivos secundarios son, en primer lugar, clasificar los eventos identificados, en segundo lugar, analizar los factores que se asocian a la presencia de dichos eventos adversos y, por último, analizar el grado de seguimiento del protocolo. MATERIAL Y MÉTODOS: Análisis descriptivo retrospectivo que incluyó a pacientes ingresados en la Unidad de Cuidados Intensivos que requirieron TIH entre 2009 y 2018. Se desarrolló un protocolo multidisciplinar y se clasificaron las incidencias según la gravedad y el tipo de eventos. RESULTADOS: Se incluyeron 1.662 traslados. El número total de traslados con incidentes ha sido 153 (9,2%), en los que se han registrado 189 incidentes, de los cuales 17 (9%) fueron descritos como eventos adversos, mientras que 172 (91%) se clasificaron como incidentes sin daño (IsD). Las incidencias clínicas fueron las más frecuentes (70,37%). En el análisis multivariante encontramos como factores asociados las arritmias cardíacas (OR: 2,88 [IQR 2,01-4,12]), antecedentes de accidente cerebrovascular (OR 1,72 [IQR 1,06-2,78]) y anemia (OR 1,55 [IQR 1,02-2,37]). La tasa de incidentes relacionados con la seguridad fue menor a lo largo del tiempo a medida que aumentaba la adhesión a la cumplimentación del protocolo. CONCLUSIONES: La implementación de un protocolo de transporte del paciente crítico y su aplicación mediante listas de verificación permite reducir tanto la incidencia de eventos adversos en estos pacientes como de IsD


OBJECTIVE: The main objective of our study is to determine if the implementation of an HIT protocol modifies the annual rate of incidents related to patient safety. The secondary objectives are, firstly, to classify the identified events, secondly to analyze the factors that are associated with the presence of said adverse events and finally to analyze the degree of monitoring of the protocol. MATERIAL AND METHODS: Retrospective descriptive analysis that included patients admitted to the Intensive Care Unit who required HIT between 2009 and 2018. A multidisciplinary protocol was developed and the incidents were classified according to the severity and type of events. RESULTS: We included 1662 transfers. The total number of transfers with incidents was 153 (9.2%) in which 189 incidents were registered, of which 17 (9%) were described as adverse events (AD), while 172 (91%) were classified as Incidents without Damage (IsD). The clinical incidents were the most frequent (70.37%). In the multivariate analysis we found as associated factors cardiac arrhythmias (OR: 2.88 [IQR 2.01-4.12]), history of stroke (OR 1.72 [IQR 1.06-2.78]) and anemia (OR 1.55 [IQR 1.02-2.37]). The rate of safety-related incidents was less over time as adherence to protocol compliance increased. CONCLUSIONS: The implementation of a critical patient transport protocol and its application through checklists allows to reduce both the incidence of adverse events in these patients and of Incidents without Damage


Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Cuidados Críticos/normas , Segurança do Paciente/normas , Transferência de Pacientes/normas , Gestão de Riscos/métodos , Medidas de Segurança , Estudos Retrospectivos
2.
Rev Esp Anestesiol Reanim (Engl Ed) ; 67(3): 119-129, 2020 Mar.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-31806153

RESUMO

OBJECTIVE: The main objective of our study is to determine if the implementation of an HIT protocol modifies the annual rate of incidents related to patient safety. The secondary objectives are, firstly, to classify the identified events, secondly to analyze the factors that are associated with the presence of said adverse events and finally to analyze the degree of monitoring of the protocol. MATERIAL AND METHODS: Retrospective descriptive analysis that included patients admitted to the Intensive Care Unit who required HIT between 2009 and 2018. A multidisciplinary protocol was developed and the incidents were classified according to the severity and type of events. RESULTS: We included 1662 transfers. The total number of transfers with incidents was 153 (9.2%) in which 189 incidents were registered, of which 17 (9%) were described as adverse events (AD), while 172 (91%) were classified as Incidents without Damage (IsD). The clinical incidents were the most frequent (70.37%). In the multivariate analysis we found as associated factors cardiac arrhythmias (OR: 2.88 [IQR 2.01-4.12]), history of stroke (OR 1.72 [IQR 1.06-2.78]) and anemia (OR 1.55 [IQR 1.02-2.37]) The rate of safety-related incidents was less over time as adherence to protocol compliance increased. CONCLUSIONS: The implementation of a critical patient transport protocol and its application through checklists allows to reduce both the incidence of adverse events in these patients and of Incidents without Damage.


Assuntos
Estado Terminal , Unidades de Terapia Intensiva , Segurança do Paciente/estatística & dados numéricos , Transferência de Pacientes/estatística & dados numéricos , Gestão de Riscos/estatística & dados numéricos , APACHE , Lista de Checagem , Protocolos Clínicos , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Monitorização Fisiológica/métodos , Análise Multivariada , Transferência de Pacientes/métodos , Transferência de Pacientes/organização & administração , Estudos Retrospectivos , Gestão de Riscos/métodos , Gestão de Riscos/organização & administração
3.
Rev Neurol ; 67(11): 463-464, 2018 12 01.
Artigo em Espanhol | MEDLINE | ID: mdl-30484280

RESUMO

TITLE: Sindrome de Guillain-Barre en tiempos de arbovirosis.


Assuntos
Síndrome de Guillain-Barré , Hospitais Gerais , Humanos
5.
Genet Mol Res ; 15(1): 15017776, 2016 Mar 04.
Artigo em Inglês | MEDLINE | ID: mdl-26985929

RESUMO

Several studies have demonstrated that matrix metalloproteinases (MMPs) play a major role in atherosclerotic plaque disruption and lead to myocardial infarction (MI). We investigated the association between the MMP1 -1607 1G/2G (rs1799750), MMP3 -1612 5A/6A (rs3025058), and MMP9 -1562 C/T (rs3918242) polymorphisms and the risk of developing MI in a Mexican mestizo cohort. The genotype analysis was performed using the restriction fragment length polymorphism-polymerase chain reaction technique in a group of 236 patients with a history of MI and 285 healthy controls. Similar distributions of rs1799750 and rs3025058 were observed in both groups; however, the MMP9 rs3918242 T allele and the CT genotype were associated with the risk of developing MI (OR = 2.32, pC = 0.02 and OR = 2.40, pC = 0.02, respectively). Multiple logistic analysis was performed between MI patients and controls to estimate the risk, and after adjusting for identified risk factors, the CT + TT genotypes of MMP9 rs3918242 were found to be significantly associated with increased risk of developing MI than those with the CC genotype (OR = 2.88, P < 0.01). In summary, our results reveal that the rs3918242 polymorphism of the MMP9 gene plays a major role in the risk of developing MI.


Assuntos
Predisposição Genética para Doença , Metaloproteinase 9 da Matriz/genética , Infarto do Miocárdio/metabolismo , Polimorfismo de Nucleotídeo Único , Idoso , Feminino , Técnicas de Genotipagem , Humanos , Masculino , Metaloproteinase 1 da Matriz/genética , Metaloproteinase 3 da Matriz/genética , México , Pessoa de Meia-Idade , Infarto do Miocárdio/genética
6.
Hipertens. riesgo vasc ; 30(1): 26-29, ene.-mar. 2013. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-110935

RESUMO

La palpación de una masa abdominal y la presencia de hipertensión de difícil control debe hacernos pensar en la posible existencia de un feocromocitoma. El feocromocitoma maligno representa entre el 2 y el 11% de los tumores neuroendocrinos, productor de catecolaminas, en el que la tríada clínica típica no siempre está presente, siendo la clínica bastante variable. El patrón nodipper en la monitorización ambulatoria de la presión arterial (MAPA), la determinación de metanefrinas plasmáticas y cromogranina A, junto a las pruebas de imagen realizadas, confirmaron el diagnóstico. Son de mal pronóstico, con una supervivencia menor del 50% a los 5 años. Su tratamiento se basa principalmente en la exéresis del tumor. Suelen ser radiorresistentes y la respuesta a la quimioterapia es mínima, por lo que el tratamiento suele tener un enfoque principalmente paliativo (AU)


Palpation of an abdominal mass and the presence of difficult-to-control hypertension should make us consider the possible existence of a pheochromocytoma. Malignant pheochromocytoma accounts for 2-11% of neuroendocrine tumors, catecholamine producing tumors, in which the typical clinical triad is not always present because of the variety of their clinical presentations. Diagnosis is confirmed through the nondipper pattern in the ambulatory blood pressure monitoring (ABPM) study, the measurement of plasma metanephrines and chromogranin A, as well as the imaging tests. Pheochromocytomas have a bad prognosis, survival being less than 50% at 5 years. The main treatment is tumor excision. They are usually resistant to radiotherapy, and response to chemotherapy is minimum. Thus, the treatment approach is often mainly palliative (AU)


Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Hipertensão/complicações , Feocromocitoma/complicações , Neoplasias das Glândulas Suprarrenais/complicações , Neoplasias Abdominais/complicações , Catecolaminas , Metanefrina/análise
8.
Nefrologia ; 31(6): 716-22, 2011.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-22130288

RESUMO

The biological, physical and psychological burden of a chronic disease has an impact on the quality of life of people who suffer from it. The perception of quality of life is affected by psychological disorders such as anxiety and depression that have a high prevalence in people with chronic kidney disease (CKD). These factors are also linked to lower life expectancy. It is therefore surprising that the psychological aspects of people with autosomal dominant polycystic kidney disease (ADPKD) have received so little attention in the medical literature, despite their importance for the overall health of these patients. The relatively new discipline called psychonephrology provides a broader view of the impact that these aspects have on individuals with chronic kidney disease, with a consequent practical application. In this article, we examine the consequences and prevalence of psychological problems that can be related to CKD and ADPKD. Firstly, we will focus on the field of CKD and ADPKD within the scope of psychonephrology. Secondly, the article introduces the concept of quality of life as a basic pillar of health that is affected when a person is diagnosed with CKD. Thirdly, we will present a summary of the main research related to anxiety and depression disorders in CKD and ADPKD. The article will conclude by synthesising findings from the different lines of research undertaken.


Assuntos
Rim Policístico Autossômico Dominante/psicologia , Ansiedade/epidemiologia , Ansiedade/etiologia , Depressão/epidemiologia , Depressão/etiologia , Relações Familiares , Medo , Humanos , Pacientes Internados/psicologia , Falência Renal Crônica/etiologia , Falência Renal Crônica/psicologia , Transplante de Rim/psicologia , Expectativa de Vida , Estilo de Vida , Pacientes Ambulatoriais/psicologia , Rim Policístico Autossômico Dominante/complicações , Rim Policístico Autossômico Dominante/cirurgia , Qualidade de Vida , Diálise Renal/psicologia , Apoio Social , Espanha/epidemiologia , Estresse Psicológico/epidemiologia , Estresse Psicológico/etiologia , Listas de Espera
11.
Nefrología (Madr.) ; 31(3): 268-274, jun. 2011. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-103198

RESUMO

En el tratamiento de la hipertensión y la diabetes, la combinación de bloqueantes del sistema renina-angiotensina y de los canales de calcio se presenta como una de las opciones más eficaces. Sin embargo, no todos los bloqueantes de calcio se comportan del mismo modo. Manidipino, a diferencia de otros derivados dihidropiridínicos de tercera generación, bloquea los canales de calcio T presentes en las arteriolas glomerulares eferentes, disminuyendo la presión intraglomerular y la microalbuminuria. Además, los canales T están relacionados con proliferación, inflamación, fibrosis, vasoconstricción y activación del sistema renina-angiotensina. La inhibición de estos factores podría explicar la acción no hemodinámica del manidipino frente a otros bloqueantes (AU)


The combination of renin-angiotensin system blockers with calcium channel blockers appears to be one of the most effective options for treating hypertension and diabetes. Nevertheless, not all calcium blockers behave in the same manner. Manidipine, unlike other third-generation dihydropyridine derived drugs, blocks T-type calcium channels present in the efferent glomerular arterioles, reducing intraglomerular pressure and microalbuminuria. In addition, T-type channels are related to proliferation, inflammation, fibrosis, vasoconstriction and activation of the renin-angiotensin system. The inhibition of these factors could explain the non-haemodynamic effects of manidipine as compared to other blockers (AU)


Assuntos
Humanos , Hipertensão/tratamento farmacológico , Diabetes Mellitus/tratamento farmacológico , /farmacocinética , Bloqueadores dos Canais de Cálcio/farmacocinética , Di-Hidropiridinas/farmacocinética , Anti-Hipertensivos/farmacocinética , Albuminúria/tratamento farmacológico , Estresse Oxidativo
12.
Cytogenet Genome Res ; 134(2): 120-6, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21389690

RESUMO

We analyzed the DNA amount in X and B chromosomes of 2 XX/X0 grasshopper species (Eyprepocnemis plorans and Locusta migratoria), by means of Feulgen image analysis densitometry (FIAD), using previous estimates in L. migratoria as standard (5.89 pg). We first analyzed spermatids of 0B males and found a bimodal distribution of integrated optical densities (IODs), suggesting that one peak corresponded to +X and the other to -X spermatids. The difference between the 2 peaks corresponded to the X chromosome DNA amount, which was 1.28 pg in E. plorans and 0.80 pg in L. migratoria. In addition, the +X peak in E. plorans gave an estimate of the C-value in this species (10.39 pg). We next analyzed diplotene cells from 1B males in E. plorans and +B males in L. migratoria (a species where Bs are mitotically unstable and no integer B number can be defined for an individual) and measured B chromosome IOD relative to X chromosome IOD, within the same cell, taking advantage of the similar degree of condensation for both positively heteropycnotic chromosomes at this meiotic stage. From this proportion, we estimated the DNA amount for 3 different B chromosome variants found in individuals from 3 E. plorans Spanish populations (0.54 pg for B1 from Saladares, 0.51 pg for B2 from Salobreña and 0.64 for B24 from Torrox). Likewise, we estimated the DNA amount of the B chromosome in L. migratoria to be 0.15 pg. To automate measurements, we wrote a GPL3 licensed Python program (pyFIA). We discuss the utility of the present approach for estimating X and B chromosome DNA amount in a variety of situations, and the meaning of the DNA amount estimates for X and B chromosomes in these 2 species.


Assuntos
Cromossomos de Insetos , DNA/genética , Gafanhotos/genética , Locusta migratoria/genética , Animais , Masculino
13.
Clin Nephrol ; 75(4): 328-35, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21426887

RESUMO

BACKGROUND: Hereditary hemochromatosis is an autosomal recessive condition causing excessive intestinal iron absorption related to C282Y hemochromatosis mutation gene. Dialysis patients receive intravenous iron supplements as treatment for anemia. The gene mutation frequency and its influence on iron deposits and intravenous iron response are unknown in these patients. STUDY DESIGN: Prospective observational. SETTING AND PARTICIPANTS: 290 dialysis patients in Gran Canaria, Spain. OUTCOMES AND MEASUREMENTS: The C282Y hemochromatosis mutation gene was studied. Other active players in iron metabolism have not been included in this study. Red cell parameters, serum iron, transferrin and ferritin concentrations were measured every 2 months for 2 years. RESULTS: No differences in allelic and genotypic frequencies between dialysis patients and the general population were detected. Baseline clinical or analytical parameters were similar in C282Y +/- and C282Y -/- patients. Among those who did not need intravenous iron treatment, C282Y+/- patients maintained constant serum ferritin (302.1 ± 216.7 vs. 319.5 ± 300.5 µg/l after 4 months), whereas C282Y-/- patients showed decreased levels during the same period (306.7 ± 212.2 vs. 221.6 ± 167.8 µg/l, p < 0.001). After 4 months of parenteral iron, serum ferritin increased more intensely in C282Y +/- patients than in C282Y -/- patients (934.2 ± 195.8 vs. 658.7 ± 259.9 µg/l, p < 0.001). A multivariance analysis identified the C282Y allele as the most important factor that explains this difference. CONCLUSIONS: Heterozygosity for the C282Y allele of the hemochromatosis mutation gene could be associated with differences in iron parameters in dialysis patients.


Assuntos
Hemocromatose/genética , Antígenos de Histocompatibilidade Classe I/genética , Ferro/sangue , Proteínas de Membrana/genética , Mutação de Sentido Incorreto , Diálise Renal , Alelos , Análise de Variância , Antígenos de Superfície/genética , Distribuição de Qui-Quadrado , Feminino , Genótipo , Hemocromatose/sangue , Hemocromatose/tratamento farmacológico , Proteína da Hemocromatose , Humanos , Ferro/uso terapêutico , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Estatísticas não Paramétricas
14.
Nefrologia ; 31(3): 268-74, 2011.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-21407275

RESUMO

The combination of renin-angiotensin system blockers with calcium channel blockers appears to be one of the most effective options for treating hypertension and diabetes.Nevertheless, not all calcium blockers behave in the same manner. Manidipine, unlike other third-generation dihydropyridine derived drugs, blocks T-type calcium channels present in the efferent glomerular arterioles, reducing intraglomerular pressure and microalbuminuria. In addition,T-type channels are related to proliferation, inflammation,fibrosis, vasoconstriction and activation of the renin-angiotensin system. The inhibition of these factors could explain the non-haemodynamic effects of manidipine as compared to other blockers.


Assuntos
Albuminúria/tratamento farmacológico , Bloqueadores dos Canais de Cálcio/metabolismo , Bloqueadores dos Canais de Cálcio/farmacologia , Di-Hidropiridinas/farmacologia , Resistência à Insulina , Estresse Oxidativo/efeitos dos fármacos , Doenças Cardiovasculares , Humanos , Nitrobenzenos , Piperazinas
15.
Ann Rheum Dis ; 69(6): 1136-9, 2010 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-19687018

RESUMO

OBJECTIVES: To assess the changes in carotid intima-media thickness (IMT) and the associated risks factors in patients with low severity systemic lupus erythematosus (SLE). METHODS: Common carotid IMT measurements were obtained by ultrasound from 101 patients with SLE at an interval of 2 years. Cardiovascular risk factors, disease activity, accumulated damage, severity (Katz index) and biochemical parameters (including high sensitivity C-reactive protein, interleukin 6, C3a, C4a, C5a and homocysteine) were also assessed. Multiple linear regression was used to assess the effect of these variables on the end IMT measurement (eIMT) adjusted to the baseline measurement (bIMT). RESULTS: The cohort comprised 94.1% women, with a mean age at entry of 41.5 years and a mean disease duration of 12.1 years. An increase of 0.078 mm in IMT was detected over 2 years, from a mean bIMT of 0.37 mm to a mean eIMT of 0.44 mm (p<0.001). When adjusted for the bIMT, multiple linear regression identified bIMT, age at diagnosis, homocysteine, C3 and C5a as risk factors for IMT progression. CONCLUSIONS: IMT significantly increases over 2 years in patients with SLE. Age, baseline IMT, C3, C5a anaphylatoxin and homocysteine are all associated risk factors, supporting a role for complement and homocysteine in the early stages of premature SLE-associated atherosclerosis.


Assuntos
Aterosclerose/etiologia , Lúpus Eritematoso Sistêmico/complicações , Adulto , Idoso , Aterosclerose/diagnóstico por imagem , Aterosclerose/patologia , Biomarcadores/sangue , Artéria Carótida Primitiva/diagnóstico por imagem , Artéria Carótida Primitiva/patologia , Complemento C5a/metabolismo , Progressão da Doença , Métodos Epidemiológicos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Túnica Íntima/diagnóstico por imagem , Túnica Íntima/patologia , Túnica Média/diagnóstico por imagem , Túnica Média/patologia , Ultrassonografia Doppler , Adulto Jovem
17.
Nefrologia ; 29(4): 327-30, 2009.
Artigo em Espanhol | MEDLINE | ID: mdl-19668304

RESUMO

BACKGROUND: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common life-threatening hereditary disease. Molecular analysis with highly polymorphic short tandem repeats, located in the vicinity of the two genes responsible for the disease (PKD1 and PKD2), is used to confirm diagnosis and give genetic counseling to members of affected families. METHODS: We have developed a new assay to genotype five PKD1 and four PKD2 markers, based on two multiplex PCR reactions, and capillary electrophoresis analysis. A total of 110 subjects, belonging to 14 affected families, were genotyped to confirm the concordance with the singleplex method used previously. RESULTS: The amplicons ranged from 95 to 154 bp in length, and complete STR profiles were obtained from 1-5 ng DNA. The specificity of the multiplex PCR system was 88,5% (95%CI= 75,9-95,2), and the sensitivity, 87,9 (95%CI= 76,1-94,6). CONCLUSIONS: This is a useful strategy that, together with automated computer-based allele detection, allows reliable, simple, faster, and cheaper genetic analysis than the previous singleplex method.


Assuntos
Rim Policístico Autossômico Dominante/diagnóstico , Reação em Cadeia da Polimerase/métodos , Feminino , Humanos , Masculino , Repetições de Microssatélites , Rim Policístico Autossômico Dominante/genética , Canais de Cátion TRPP/análise , Canais de Cátion TRPP/genética
18.
Nefrología (Madr.) ; 29(3): 203-207, mayo-jun. 2009. ilus
Artigo em Espanhol | IBECS | ID: ibc-104388

RESUMO

Desde su introducción en la década de los 70, la evolución de los calcioantagonistas ha permitido solventar la incertidumbre inicialmente generada por aquellos fármacos deprimera generación. Éstos se caracterizan por una menor disponibilidad oral, una acción vasodilatadora rápida y corta acción. El manidipino surge como un derivado dihidropiridínico de tercera generación con ventajas adicionales reales frente a las generaciones anteriores, como son su alta lipofilicidad, su acción más prolongada y una vida media prolongada a nivel del receptor y, además, algunas ventajas teóricas entre otras, mejoras sobre la función renal reduciendo la presión intraglomerular y la microalbuminuria. Sin embargo, la evaluación clínica de estas últimas propiedades depende aún de los resultados que se deriven de la experiencia clínica. Además de ahondar ensu papel en la reducción de la presión arterial, presentamos una breve revisión sobre nuevos aspectos cardiometabólicos de los calcioantagonistas dihidropiridínicos, centrándonos en el manidipino (AU)


From its introduction in the decade of the 70’s the evolution of the calcium channel blockers has allowed to resolve the uncertainty initially generated by those first-generation drugs. These, are characterized by a smaller oral availability, a fast vasodilator action and a short duration of action. Manidipine arises as a dihydropyridinecalcium antagonist of third generation with real additional advantages regarding to previous generations. They show high lipophilia, a more prolonged action and as well as a prolonged average life at the level of his receptor and, in addition, some theoretical advantages among others calcium antagonists, improvements on the renal function by reducing the intraglomerular pressure and microalbuminuria. Nevertheless, the clinical evaluation of these last properties still depends on the results derived from clinical trials. Besides to go deep in its role in their antihypertensive effect, we presented a brief review on new cardiometabolic aspects of these dihydropyridines calcium antagonists focusing in manidipine (AU)


Assuntos
Humanos , Anti-Hipertensivos/farmacocinética , Bloqueadores dos Canais de Cálcio/farmacocinética , Di-Hidropiridinas/farmacocinética , Fenômenos Fisiológicos do Sistema Urinário , /farmacocinética , Bloqueadores do Receptor Tipo 1 de Angiotensina II/farmacocinética , Adipogenia
19.
Free Radic Res ; 42(1): 82-92, 2008 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-18324526

RESUMO

The CYBA gene variants have been inconsistently associated with coronary heart disease (CHD) risk. A case-control study was conducted genotyping 619 subjects to explore the contribution of C242T and A640G to CHD risk in the population. A significant risk was found associated with GG homozygosity (odds ratio (OR) 2.132, 95% confidence interval, 1.113-4.085). The C242T variant was associated with CHD risk in women. Bias due to population stratification was analysed. Phenotype changes linked to these polymorphisms were evaluated. Superoxide measurements revealed higher production as indicated by the presence of the G and T alleles. Differences in mRNA concentration in heterozygous A640G samples were analysed. Higher levels of G allele mRNA compared with A allele mRNA were found. NAD(P)H oxidase p22phox sub-unit expression was evaluated with Western blot. Experiments revealed a gradual relationship in p22phox protein expression according to genotypes of the analysed variants. Those GG TT double homozygous showed increased p22phox protein expressions regarding AA CC double homozygous. This study has demonstrated increased expression and activity of the NAD(P)H system components during atherogenesis and the results could help explain the relevance of the A640G variant as a CHD marker.


Assuntos
Doença das Coronárias/genética , Regulação Enzimológica da Expressão Gênica , NADPH Oxidases/genética , Polimorfismo Genético , Adulto , Estudos de Casos e Controles , Células Cultivadas , Doença das Coronárias/enzimologia , Feminino , Frequência do Gene , Predisposição Genética para Doença , Homozigoto , Humanos , Peróxidos Lipídicos/sangue , Macrófagos/enzimologia , Masculino , Artéria Torácica Interna/enzimologia , Pessoa de Meia-Idade , Monócitos/enzimologia , NADPH Oxidases/metabolismo , Razão de Chances , Fenótipo , Estabilidade de RNA , RNA Mensageiro/metabolismo , Medição de Risco , Fatores de Risco , Fatores Sexuais , Espanha , Superóxidos/metabolismo , Regulação para Cima
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