Trends in premature mortality from diabetes mellitus in Costa Rica in the period 2000-2020.

OBJECTIVES: To analyze the temporal trends of premature mortality from diabetes in Costa Rica in the period 2000-2020, at a national level and by province, and the effect of the COVID-19 pandemic on diabetes mortality during the year 2020. METHODS: We studied the temporal trends of mortality from diabetes in Costa Rica in the period between 2000 and 2020. Age-standardized mortality rates and corresponding 95% confidence intervals were calculated for each year, sex and province. RESULTS: We analyzed the data of 17,968 deceased persons. The mean age was 72.5 years (range 1 to 109 years), and 51.5% of the population (n = 9253) was younger than 75 years. In both men and women, we observed a significant decrease in mortality from 2000 to 2014, followed by the opposite trend from 2014 to 2020, with average yearly increases of 13.9% in men and 11.6% in women. CONCLUSIONS: Premature mortality from diabetes has been growing from 2014. The COVID-19 pandemic changed the mortality pattern, increasing premature diabetes deaths in Costa Rica in 2020.

The process for recognizing of foreign medical degrees in Costa Rica: a statistical survey for the past 15 years.

This article presents the most important developments in the recognition process of foreign medical degrees in Costa Rica over the past fifteen years. Most applicants received their medical degrees in Cuba, Venezuela, Nicaragua and Mexico. By far the most numerous group completed their studies in Cuba, followed by graduates from Venezuelan and Nicaraguan universities, the number of which has increased in the last five years. The pass rate of the written examination used in the recognition process is 23.9% with relatively large fluctuations between graduates of the individual countries, especially between the countries with the lowest numbers of graduates. The main goal of the recognition process is to ensure that graduates from different study conditions and curricula as well as from diverging areas of specialization of the faculties abroad have competencies and knowledge comparable to those of medical graduates in Costa Rica. The focus is on the safety of the patient, as is the case with state exams in many countries.

Prevalence of the fibrinogen beta-chain, angiotensin-converting enzyme and plasminogen activator inhibitor-1 polymorphisms in Costa Rican young adults with thrombotic disease.

Thrombotic disease is a multifactorial condition that involves both classical and genetic risk factors. We studied the association between the classical risk factors of hypertension and smoking, and polymorphisms on the genes of the angiotensin-converting enzyme (ACE), the beta-chain of fibrinogen (FG), and the plasminogen activator inhibitor-1 (PAI-1) in patients with venous and arterial thrombosis. The present investigation is a retrospective case-control study. A total of 340 participants were analyzed, including 162 patients and 178 healthy controls. Hypertension and smoking showed a significant association with thrombotic disease (p < 0.05) but FG level was found significant risk factor only for the venous thrombosis (VT) group (p < 0.04). Significant differences between thrombotic groups were found for the studied polymorphisms of PAI-1 (p < 0.0014), but for both FG beta-chain gene polymorphisms, none of the molecular analyses showed a positive sample for any mutating allele (p > 0.05). For the ACE polymorphism, the I allele present a protective effect in the general thrombotic group. This is one of the first reports in a Latin-American population dealing with these molecular markers and thrombotic diseases.

4-Locus high-resolution HLA allele and haplotype frequencies in Costa Ricans from Guanacaste.

A total of 110 Costa Rican Mestizos from the province of Guanacaste were genotyped at high-resolution for the human leukocyte antigen loci HLA-A, -B, -C, and -DRB1 using sequence-based typing methods. The respective allele and extended haplotype frequencies, as well as Hardy-Weinberg proportions were calculated. The most frequent extended haplotype identified was A*24:02:01-B*35:12:01-C*04:01:01-DRB1*04:07:01G, with an estimated frequency of 2.73%. No deviation from Hardy-Weinberg Equilibrium was detected at any of the loci studied. The HLA genotypic data of the population sample reported here are available publicly in the Allele Frequencies Net Database under the population name "Costa Rica Guanacaste Mestizo" and the identifier AFN3609.

4-Locus high-resolution HLA allele and haplotype frequencies in Costa Ricans from African-Caribbean descent.

A total of 102 Costa Ricans of African-Caribbean descent were genotyped at high-resolution for the human leukocyte antigen loci HLA-A, -B, -C, and -DRB1 using sequence-based typing methods. The respective allele and extended haplotype frequencies, as well as Hardy-Weinberg proportions were calculated. The most frequent extended haplotype identified was A*01:01:01-B*08:01:01-C*07:01:01-DRB1*03:01:01G, with an estimated frequency of 1.96%. No deviation from Hardy-Weinberg Equilibrium was detected at any of the loci studied. The HLA genotypic data of the population sample reported here are available publicly in the Allele Frequencies Net Database under the population name "Costa Rica African-Caribbeans" and the identifier AFN3607.

5-Locus high-resolution HLA allele and haplotype frequencies in Costa Ricans from the Central Valley.

A total of 221 Costa Rican Mestizos from the Central Valley were genotyped at high-resolution for the human leukocyte antigen loci HLA-A, -B, -C, -DRB1, and -DQB1 using sequence-based typing methods. The respective allele and extended haplotype frequencies, as well as Hardy-Weinberg proportions were calculated. The most frequent extended haplotype identified was A*24:02:01-B*40:02:01-C*03:05-DRB1*08:02:01-DQB1*04:02:01, with an estimated frequency of 2.04%. No deviation from Hardy-Weinberg Equilibrium was detected at any of the loci studied. The HLA genotypic data of the population sample reported here are available publicly in the Allele Frequencies Net Database under the population name "Costa Rica Central Valley Mestizo" and the identifier AFN3606.

4-Locus high-resolution HLA allele and haplotype frequencies in Amerindians from Costa Rica.

A total of 125 Costa Ricans of Amerindian descent were genotyped at high-resolution for the human leukocyte antigen loci HLA-A, -B, -C, and -DRB1 using sequence-based typing methods. The respective allele and extended haplotype frequencies, as well as Hardy-Weinberg proportions were calculated. The most frequent extended haplotype identified was A*24:02:01-B*40:02:01-C*03:05-DRB1*04:07:01G, with an estimated frequency of 8.26%. A deviation from Hardy-Weinberg Equilibrium was detected at the DRB1 locus (p = 0.099). The HLA genotypic data of the population sample reported here are available publicly in the Allele Frequencies Net Database under the population name "Costa Rica Amerindians" and the identifier AFN3608.

4-Locus high-resolution HLA allele and haplotype frequencies in admixed population from Nicaragua.

A total of 155 Nicaraguan Mestizos from across the country were genotyped at high-resolution for the human leukocyte antigen loci HLA-A, -B, -C, and -DRB1 using sequence-based typing methods. The respective allele and extended haplotype frequencies, as well as Hardy-Weinberg proportions were calculated. The most frequent extended haplotype identified was A*24:02:01-B*40:02:01-C*03:05-DRB1*04:07:01G, with an estimated frequency of 2.26%. No deviation from Hardy-Weinberg Equilibrium was detected at any of the loci studied. The HLA genotypic data of the population sample reported here are available publicly in the Allele Frequencies Net Database under the population name "Nicaragua Mestizo" and the identifier AFN3610.

Novel genotype of Ehrlichia canis detected in samples of human blood bank donors in Costa Rica.

This study focuses on the detection and identification of DNA and antibodies to Ehrlichia spp. in samples of blood bank donors in Costa Rica using molecular and serological techniques. Presence of Ehrlichia canis was determined in 10 (3.6%) out of 280 blood samples using polymerase chain reaction (PCR) targeting the ehrlichial dsb conserved gene. Analysis of the ehrlichial trp36 polymorphic gene in these 10 samples revealed substantial polymorphism among the E. canis genotypes, including divergent tandem repeat sequences. Nucleotide sequences of dsb and trp36 amplicons revealed a novel genotype of E. canis in blood bank donors from Costa Rica. Indirect immunofluorescence assay (IFA) detected antibodies in 35 (35%) of 100 serum samples evaluated. Thirty samples showed low endpoint titers (64-256) to E. canis, whereas five sera yielded high endpoint titers (1024-8192); these five samples were also E. canis-PCR positive. These findings represent the first report of the presence of E. canis in humans in Central America.

Common polymorphisms and cardiovascular factors in patients with myocardial infarction of Costa Rica.

Eight common polymorphisms of known myocardial infarction (MI) risk factors (factor V Leiden (FVL), factor V HR2 (FVHR2), factor II 20210G > A (FII), factor VII IVS7 (FVII IVS7), factor VII Arg353Gln (FVII), factor XIII Va134Leu (FXIII), Methylenetetrahydrofolate reductase C677T (MTHFR), Angiotensin Converting Enzyme (ACE)) and environmental risk factors were analyzed in a MI patients of Costa Rica. This case-control study included 186 MI subjects, 95 of them < or = 45 years and 201 age and sex matched controls. With the use of PCR method the polymorphisms were detected and through interviews additional information was collected. Hypercholesterolemia and smoking were associated with a significant risk in younger patients. High fibrinogen level was an important risk factor and interaction with smoking was detected. Mainly, the genotype 34LeuLeu of FXIII showed significant protective effect, (OR 0.32, 95% CI 0.13-0.80) while the other polymorphisms showed no significant difference between the cases and the controls. Carriers of FVII (OR 2.75, 95% CI 1.07-7.02) and FXIII (OR 4.20, 95% CI 2.03-8.67) polymorphisms showed interaction with fibrinogen in the statistical analysis. It was concluded that there was an important interaction between the common risk factors and the polymorphisms (FVII; FXIII) in the development of MI. This is one of the first reports in a Latin-American population dealing with these molecular markers and MI.

Molecular diagnosis of hemophilia A and B. Report of five families from Costa Rica.

Hemophilia A and B are X-chromosome linked bleeding disorders caused by deficiency of the respective coagulation factor VIII and IX. Affected individuals develop a variable phenotype of hemorrhage caused by a broad range of mutations within the Factor VIII or Factor IX gene. Here, were report the results of the molecular diagnosis in a five Costa Rican families affected with Hemophilia. Methods of indirect and direct molecular diagnosis are applied in three Hemophilia A and two Hemophilia B families from Costa Rica as well as preconditions, practicability and facilities of this diagnosis. In two families with Hemophilia A and both families with Hemophilia B the causative mutation could be detected by Southern blotting, polymerase chain reaction or sequence analysis. One Hemophilia A family could only analyzed by linkage analysis using genomic markers.

The frequency of HLA-B(∗)57:01 and the risk of abacavir hypersensitivity reactions in the majority population of Costa Rica.

HLA-B(∗)57:01 is a well-known and cost-effective pharmacogenetic marker for abacavir hypersensitivity. As with other HLA alleles, there is widespread variation in its frequency across populations. The Costa Rica Central Valley Population (CCVP) is the major population in this country. The frequency of HLA-B(∗)57:01 in this population has not been described yet. Thus, our aim was to determine the frequency of this allele in the CCVP. 200 unrelated healthy volunteer donors born in the CCVP were typed. HLA-B(∗)57-positive samples identified by HLA intermediate resolution typing methods were further typed by SBT to high resolution. An HLA-B(∗)57:01 carrier frequency of 5.00% was determined in this sample. This frequency is relatively high in comparison to reports from other populations in Latin America. These results suggest that there is a considerable frequency of HLA-B(∗)57:01 in the CCVP and that pharmacogenetic testing for HIV+ patients who are going to receive abacavir-based treatment should be considered in this country.

Non-therapeutic anti-Xa levels in medical patients receiving anticoagulant therapy with enoxaparin.

INTRODUCTION: Anticoagulant activity of enoxaparin is not routinely monitored even when previous studies have shown a high pharmacological variability. The aim of this study is to determine the prevalence of non-therapeutic anti-Xa levels among medical patients using enoxaparin as anticoagulant therapy and to point out potential risk factors related to the risk of having a sub-therapeutic level. MATERIALS AND METHODS: Anti-Xa levels were measured in a cohort of sixty patients with medical indication for enoxaparin. Patients were categorized according to anti-Xa levels as follows: suboptimal anticoagulation (<0.5 IU/ml), optimal anticoagulation (between 0.5 and 1.2 IU/ml) or overanticoagulated (>1.2 IU/ml). Demographic and clinical variables and the use of concomitant medications were described for each group. Univariate and multivariate analysis were performed to assess the relationship between sub-optimal anticoagulation and potential predictive variables. A linear regression analysis was done to assess the relationship between anti-Xa activity, age, weight, body mass index, administered dose/weight and creatinine clearance. RESULTS: The mean anti-Xa activity was 0.71±0.32 UI/ml. Thirty one percent of patients had anti-Xa levels out of the therapeutic range, most of them (twenty-eight percent of total population) with a sub-therapeutic level. None of the variables were associated with the risk of a sub-therapeutic anti-Xa level. CONCLUSION: Almost one third of patients receiving enoxaparin had anti-Xa levels out of the therapeutic range. We need more studies to determine the clinical relevance of these findings.

HLA-A, -B, -C, -DQB1, and -DRB1,3,4,5 allele and haplotype frequencies in the Costa Rica Central Valley Population and its relationship to worldwide populations.

The human leukocyte antigen (HLA) system is the most polymorphic in humans. Its allele, genotype, and haplotype frequencies vary significantly among different populations. Molecular typing data on HLA are necessary for the development of stem cell donor registries, cord blood banks, HLA-disease association studies, and anthropology studies. The Costa Rica Central Valley Population (CCVP) is the major population in this country. No previous study has characterized HLA frequencies in this population. Allele group and haplotype frequencies of HLA genes in the CCVP were determined by means of molecular typing in a sample of 130 unrelated blood donors from one of the country's major hospitals. A comparison between these frequencies and those of 126 populations worldwide was also carried out. A minimum variance dendrogram based on squared Euclidean distances was constructed to assess the relationship between the CCVP sample and populations from all over the world. Allele group and haplotype frequencies observed in this study are consistent with a profile of a dynamic and diverse population, with a hybrid ethnic origin, predominantly Caucasian-Amerindian. Results showed that populations genetically closest to the CCVP are a Mestizo urban population from Venezuela, and another one from Guadalajara, Mexico.

Trombofilia primaria: mejoramiento del diagnóstico basado en evidencia / Thrombophilia: improving diagnosis with an evidence-based approach

El tromboembolismo venoso, que involucra que trombosis venosa profunda (TVP) y el tromboembolismo pulmonar (TEP)es uno de los síndromes con mayor morbi-mortalidad en pacientes ambulatorios y hospitalizados. Los factores de riesgogenéticos tienen un papel aún discutido en la génesis de enfermedades como la trombosis venosa profunda ya que existeuna gran variabilidad gen-gen y gen-ambiente. Existe debate desde hace muchos años sobre la utilidad de realizar estudiosgenéticos para detectar poblaciones de riesgo, sin embargo, la tendencia a medida que se publica nueva informaciónes limitar su uso para casos en los cuales proporcionará información valiosa capaz de modificar la estrategia terapéutica.El único método confiable para el diagnóstico de las mutaciones en trombofilia es por medio de la biología molecular, locual incurre en costes elevados para un sistema de salud como el nuestro, motivo por el cual se hace necesario efectuar unanálisis de la literatura acerca de la utilidad real del tamizaje por trombofilia y diseñar una estrategia basada en evidenciapara seleccionar pacientes que van a obtener un beneficio al someterse a este tipo de estudios.

Thromboembolic disorders are one of the leading causes of morbidity and mortality among patients hospitalized aswell as outpatients. There is an active debate about the contribution of genetic causes to thrombotic events such asdeep vein trombosis mainly because of the great variability between gene-gene and gene-environment interactions.Due to growing new evidence, there is a trend toward limiting thrombophilia testing to patients in whom the resultcould influence the treatment strategy. The only reliable method to diagnose mutations in thrombophilia is by means ofmolecular biology tests which incurrs in a high cost to our nacional social security. For this reasons, a revision of currentliterature is necessary to develop a evidence based- approach to patients with these diseases.

The FXIIIVal34Leu, common and risk factors of venous thrombosis in early middle-age Costa Rican patients.

In this study, eight common polymorphisms associated with venous thrombosis (VT) and thrombophilia factors were analyzed in a Costa Rican case-control study. With the use of polymerase chain reaction (PCR) methods the polymorphisms were detected in 120 patients and 133 controls (mean age <40 years old). It was concluded that a high level of fibrinogen, antiphospholipid antibodies, family history, and the genotype 34LeuLeu of FXIII OR 0.42 (0.20-0.89) showed a significant effect on the risk of VT. Associations between the risk of VT and genetic polymorphisms have been established. Some of these polymorphisms are highly prevalent in Caucasians, but there is a significant geographic variation in their prevalence among different populations. The results of this study support the protective effect of FXIII Val34Leu polymorphism in VT. These findings are consistent with previous reports that included other populations.

El polimorfismo inserción/deleción del gen de la enzima convertidora de angiotensina y su asociación con algunas complicaciones en pacientes con diabetes mellitus tipo 2 / Angiotensin converting enzyme insertion/deletion polymorphism and its association with complications in patients with types 2 diabetes mellitus

Justificación: La diabetes mellitus es una enfermedad de gran repercusión en la población costarricense y predispone a los pacientes a tener diversas complicaciones. Se desconoce exactamente el origen de estas complicaciones y se han sugerido polimorfismos que se asocian fuertemente con la aparición de algunas de éstas. Objetivo: Determinar si existe relación entre las complicaciones de la diabetes y el polimorfismo inserción/deleción de la enzima convertidora de angiotensina. Método: Se trabajó con 225 individuos; 109 corresponden a casos y 116 a controles. A cada participante se le extrajo una muestra de sangre y se realizó estudios de niveles de fibrinógeno y mediante la reacción en cadena de la polimerasa el estudio de la mutación inserción/deleción del intrón 16 del gen de la enzima convertidora de angiotensina. Luego se comparó con la presencia de diabetes o complicaciones de ésta. Resultados: Se encontró un mayor número de controles con el polimorfismo inserción/deleción sin que esto llegue a ser significativo; en el grupo de los casos ningún polimorfismo mostró un comportamiento dominante. En cuanto al fibrinógeno, el polimorfismo deleción/deleción se asocia con valores elevados de este. Mediante análisis de regresión logística se determinó que el polimorfismo deleción/deleción es significativo en cuanto a la disposición a desarrollar diabetes, pero apenas logra explicar esta variable en un 3,58 por ciento por lo que hay variables de mayor peso. Conclusión: En la población estudiada no se encontró asociación fuerte entre los polimorfismos de la enzima convertidora de angiotensina y el padecimiento de diabetes mellitus tipo 2. Se puede afirmar que en la población estudiada no existe asociación alguna entre ninguno de los polimorfismos de la enzima convertidora de angiotensina y la aparición de complicaciones diabéticas.

La importancia de la determinación del factor X activado para la anticoagulación con heparinas de bajo peso molecular: experiencia en el hospital san juan de dios, 2009-2011 (primer reporte) / The importance of the determination of factor X acivated for anticoagulation with low molecularweight heparins experience at the hospital san juan de dios. (first report) 2009-2011

La anticoagulación con heparinas de bajo peso molecular (HBPM) es una herramienta terapéutica fundamental para el tratamiento de la enfermedad tromboembólica. En el presente reporte se evidencia la importancia de cuantificar la actividad del anticuerpo antifactor X activado (Xa) para el monitoreo de la enoxaparina y analizar los grupos de pacientes en riesgo de tener niveles inferiores al terap‚utico. M‚todos: se estudiaron 34 pacientes adultos, anticoagulados con enoxaparina durante el periodo 2009-2011. Asimismo, se realizó un análisis descriptivo de las características demográficas y clínicas de todo los pacientes, en donde se indicaron las causas de la anticoagulación, la comorbilidades y el tipo de anticoagulación. Se midió la actividad anti-Xa 4 horas después de la administración de enoxaparina. Resultados: El promedio de edad de los pacientes fue de 62,3+17,7 años. Un 72,71 por ciento de los pacientes utilizaron enoxaparina como indicación para el síndrome coronario agudo. La comorbilidad más importante fue la combinación con la hipertensión arterial. El aclaramiento renal promedio fue de 62,47 ml/min, solamente tres pacientes tuvieron un aclaramiento menor a 30 ml/min; un 44,1 por ciento de los pacientes eran obesos. El 55,9 por ciento de los pacientes tuvo niveles anti-factor Xa dentro del rango terapéutico y un 35,3 por ciento tuvo valores de anti factor Xa profilácticos. Conclusión: El manejo del paciente adulto que recibe terapia anticoagulación con HBPM presenta una alta complejidad, hecho que se ve reflejado tanto a su perfil demográfico como clínico. También, se considera importante contar con la determinación del factor anti Xa para el monitoreo de HBPM para cierto grupo de pacientes vulnerables y con ello lograr el efecto deseado con esta terapia, debido a que existe un alto porcentaje de pacientes con niveles fuera del rango terapéutico.

Anticoagulation is an important therapeutic tool for patients with thromboembolic disease who receive therapy with lowmolecular weight heparins (LMWH). This report gives evidence about the importance of determining the activity of Anti-Xaactivity for monitoring enoxaparin and for identifying those patients who need this analysis based on some risk factors.Methods: We studied 34 adult patients who received enoxaparin as anticoagulation therapy during the period 2009-2011. We performed a descriptive analysis of demographic and clinical characteristics of all patients, indicating thereasons for anticoagulation, comorbidities and type of anticoagulation. We determined the anti-Xa activity 4 hours afteradministration of enoxaparin.Results: The mean age of patients was 62,3 + 17,7 years, regardless of gender. 72,7% of patients received enoxaparin astherapy for an acute coronary syndrome. The most frequent comorbidity was hypertension. The average of renal clearancewas 62,47 ml/min, only three patients had a renal clearance below 30 ml/min. 44,1% of the patients were obese. 55, 9%of patients were within therapeutic levels of anti-Xa activity and 35,3% of patients had an anti-Xa activity considered asprophylactic.Conclusion: The management of adult patients receiving anticoagulation therapy with LMWH is complex and it isreflected in their demographic and clinical characteristics. It is important to determine Anti-Xa activity to monitor the useof enoxaparin as anticoagulant therapy because of the high variability found in certain groups of patients.

Polimorfismos FVII IVS7, FVII R353Q en el gen del Factor VII y FXIII Val34Leu y su asociación con el riesgo de infarto agudo del miocardio en pacientes costarricenses / FVII polymorphisms IVS7, FVII R353Q in FVII gene and FXIII Val34Leu and its associationwith the risk of acute myocardial infartion in costa rica patients

Los niveles aumentados de los factores de la coagulación como el FVII y FXIII se han asociado con infarto agudo del miocardio (IAM). Los estudios de biología molecular han permitido detectar varias mutaciones en los genes del FVII y FXIII que se han asociado al riesgo de enfermedad coronaria. Métodos: Se estudiaron 186 pacientes que sufrieron infarto agudo del miocardio y 201 controles sanos. Se determinaron los polimorfismos FXIII (Val34Leu);FVII, IV(S7), FVII (R353Q), según las técnicas descritas. Cabe destacar que esta investigación siguió los lineamientos de bioética. Resultados: La edad de los pacientes fue de 46,2 años (147 hombres/39 mujeres), y la de los controles fue de 46 años (141 hombres/60 mujeres). La prevalencia de las mutaciones obtenidas tanto en pacientes como controles fue: FVII IVS7 OR: 0,60 (0,26-1,38) p=0,193 y FVIIR353Q OR:0,81 (0,61-1,08) p=0,729; respectivamente. El fenotipo Leu/Leu tiene más elevada prevalencia en los casos controles que en los pacientes infartados, al hacer el ajuste de factores de riesgo cardiovascular, se demostró que este fenotipo es un factor protector para el desarrollo del IAM OR: 0,66 (0,47-0,93) p=0,01. Los factores de riesgo tradicionales fueron estadísticamente significativos. En el FVII, y en el FVII, y en el FVII IVS se encontraron nuevas variantes (4 y 8), no descritas previamente. Conclusión: El FXIII Val34Leu se presenta como factor protector contra el IAM, y ninguno de los polimorfismos del FVII se encontró asociado como factor de riesgo para IAM. El FXIII Val34Leu ha sido descrito como un facilitador de la activación del factor XIII, durante la fase final de la coagulación, incrementando y acelerando la estabilización de la fibrina, confiriendo más resistencia ante la fibrinólisis. Se incrementan el interés de este polimorfismo en el IAM y en especial para los pacientes que fueran sometidos a terapia antibrinolítica.

Increased levels of coagulation factors such as FVII and FXIII have been associated with acute myocardial Infarction (AMI).Molecular biology studies have identified several mutations in the genes of FVII and FXIII and observe its influence on thelevels of these and their possible association and risk of AMI.Methods: We studied 186 patients with documented AMI and 201 controls with no history of cardiovascular disease. Weperformed a case-control study. It was determined the FXIII Val34Leu polymorphisms, FVII IVS7, FVII R353Q, according tothe procedures described. This research followed the guidelines of institutional bioethics.Results: The mean age of patients was 46.2 years (147 men / 39 women), and controls was 46 years (141 men / 60 women).The prevalence of mutations obtained in patients as controls were: FVII IVS7 OR: 0.60 (0.26 to 1.38) p = 0.193 and FVIIR353QOR: 0.81 (0.61 to 1.08) p = 0.729 , respectively. It is observed that the phenotype Leu/Leu is more common in controls thanin patients, and after adjustment for cardiovascular risk factors, was shown to be a protective factor for the developmentof AMI OR: 0.66 (0.47 - 0.93) p = 0.01. The traditional risk factors were statistically significant. In FVII, were found in the FVIIIVS, new variants * (4 and 8), not previously described.Conclusion: FXIII Val34Leu was found as protector factor but neither FVII polymorphisms were associated as risk factors forAMI. FXIII Val34Leu, had been described as a facilitator of the activation of factor XIII, during the final stages of coagulation,increasing and accelerating stabilization of the fibrin, conferring mayor resistance to fibrinolysis. Increase the interest ofthis polymorphism in AMI and especially for patients who were subjected to antifibrinolytic therapy.

Farmacogenética: hacia la individualización de la terapia farmacológica en Costa Rica / Pharmacogenetics: toward the individualization of pharmacologic therapy in Costa Rica

La "era posgenómica" ha impactado las ciencias biológicas y biomédicas desde la identificación de un significativo componente de variabilidad genética interindividual. La farmacología no escapa a esta realidad, y esta ciencia, en conjunto con la toxicología, ya desde hace varios años desarrollados campos como la farmacogenética y la farmacogenómica. Dichas disciplinas estudian la influencia de la variabilidad gen‚tica de la población respecto a la respuesta que se tiene ante el contacto con los fármacos y las sustancias tóxicas. Las variantes genéticas, reflejadas en el polimorfismo de los genes, tienen implicaciones en el manejo de xenobióticos en el organismo y además determinan las respuestas aumentadas, normales disminuidas durante la administración de algunos fármacos. Muchos genes se relacionan con reacciones adversas y fallas terapéuticas de fármacos administrados a dosis predeterrminadas y siguiendo protocolo establecidos. Es por esto que las herramientas de caracterización genética molecular se aplican en muchos países con el fin de adaptar estos protocolos a cada individuo, es decir, personalizar la terapia farmacológica, donde las dosificaciones son evaluadas de acuerdo con las características genéticas de la persona, para evitar o prevenir reacciones adversas en individuos predispuestos. Costa Rica es un país que hace grandes esfuerzos para brindar una atención médica de primer mundo a sus habitantes, sin embargo, el campo de farmacogenética aún no se ha desarrollado en nuestro medio. No obstante, el Centro Nacional Innovaciones Biotecnológicas financia un proyecto pionero junto con la Universidad de Costa Rica, para desarrollar la aplicación de esta disciplina en el país. El presente artículo presenta las bases biológicas y la utilidad clínica de farmacogenética, así como detalles de las iniciativas para el desarrollo de esta disciplina en Costa Rica...