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.

Medical Education in Costa Rica. From Flexner to COVID-19: Integrative Answers for Old and New Challenges.

This monograph describes key aspects of medical education in a middle-income country such as Costa Rica, with an emphasis on public education. The main strengths and challenges of our curriculum are presented, as well as some recently implemented modernization measures to address the challenges described. Special attention is given to simulation training in medicine to promote systematic and integrative medical education in a problem-solving context. The SPICES model of educational strategies is used as a paradigm for curricular analysis. Finally, the impact of the COVID-19 pandemic on student, faculty, and staff acceptance of the curriculum modernization measures introduced is briefly discussed. Supplementary Information: The online version contains supplementary material available at 10.1007/s40670-023-01886-w.

Bone Turnover Markers Changes Induced by Plateletpheresis May Be Minimized with Oral Supplementation of Calcium, Minerals, and Vitamin D before the Procedures: A Non-Randomized, Controlled Study.

Apheresis allows the collection of specific blood components but changes serum calcium (Ca), magnesium (Mg), copper (Cu), zinc (Zn), and hormones involved in bone metabolism due to citrate infusion. We assessed the effect of oral supplementation of calcium, vitamin D, and minerals as pills or an enriched diet before plateletpheresis donation on levels of divalent cations, hormones, and bone turnover markers that may prevent metabolic changes. Methods: Non-randomized controlled study including 134 donors. Serum parathyroid hormone (PTH), Ca, Mg, Zn, Cu, osteocalcin (OC), vitamin D, and type-1 collagen C-terminal telopeptide (CTX-1) levels were measured at baseline and post-procedure. Donors were divided into four groups: supplemented with calcium carbonate and vitamin D (cal + vitd); those receiving calcium, minerals, and vitamin D (cal + vitd + min); those receiving a calcium-rich diet (diet) and a control group (control). Results: PTH levels increased >1-fold, whereas tCa, tMg, Zn, Cu, iCa, iMg, and vitamin D levels decreased immediately after apheresis amongst donors of any group; when these levels were measured two weeks later, donors in the calcium-vitd and cal + vitd + min groups returned to basal values; donors in the cal + vitd + min group were the only group that kept their levels of OC and CTX unchanged at the different study times. Conclusions: Bone turnover markers changes induced by plateletpheresis may be minimized with oral supplementation of calcium, minerals, and vitamin D two days before the procedures.

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.

Neuroimmune Pathophysiology in Asthma.

Asthma is a chronic inflammation of lower airway disease, characterized by bronchial hyperresponsiveness. Type I hypersensitivity underlies all atopic diseases including allergic asthma. However, the role of neurotransmitters (NT) and neuropeptides (NP) in this disease has been less explored in comparison with inflammatory mechanisms. Indeed, the airway epithelium contains pulmonary neuroendocrine cells filled with neurotransmitters (serotonin and GABA) and neuropeptides (substance P[SP], neurokinin A [NKA], vasoactive intestinal peptide [VIP], Calcitonin-gene related peptide [CGRP], and orphanins-[N/OFQ]), which are released after allergen exposure. Likewise, the autonomic airway fibers produce acetylcholine (ACh) and the neuropeptide Y(NPY). These NT/NP differ in their effects; SP, NKA, and serotonin exert pro-inflammatory effects, whereas VIP, N/OFQ, and GABA show anti-inflammatory activity. However, CGPR and ACh have dual effects. For example, the ACh-M3 axis induces goblet cell metaplasia, extracellular matrix deposition, and bronchoconstriction; the CGRP-RAMP1 axis enhances Th2 and Th9 responses; and the SP-NK1R axis promotes the synthesis of chemokines in eosinophils, mast cells, and neutrophils. In contrast, the ACh-α7nAChR axis in ILC2 diminishes the synthesis of TNF-α, IL-1, and IL-6, attenuating lung inflammation whereas, VIP-VPAC1, N/OFQ-NOP axes cause bronchodilation and anti-inflammatory effects. Some NT/NP as 5-HT and NKA could be used as biomarkers to monitor asthma patients. In fact, the asthma treatment based on inhaled corticosteroids and anticholinergics blocks M3 and TRPV1 receptors. Moreover, the administration of experimental agents such as NK1R/NK2R antagonists and exogenous VIP decrease inflammatory mediators, suggesting that regulating the effects of NT/NP represents a potential novel approach for the treatment of asthma.

Learning capacities and welfare in an Antillean manatee, Trichechus manatus manatus.

Studies on the cognitive abilities of manatees are limited despite their importance for the environmental enrichment and welfare of individuals in captivity and the understanding of manatee behaviour in the wild. Our study analyses how the presence of new stimuli and their association with food may have changed the behaviour of an Antillean manatee called Daniel. First, Daniel was observed in the absence of stimuli and subsequently, in step two, presented with the presence of four different geometrical shapes. During step three, we trained Daniel to eat from the square, while in step four he was presented with the four shapes without food. The behaviour and interaction of the manatee with the square increased considerably. We observed that three and twelve months after training the manatee still chose the square and displayed behaviours toward this specific shape. This study allowed us to formally demonstrate the ability of manatees to associate visual cues with food and increase activity with environmental and occupational devices. Our results open up new perspectives for behavioural studies on manatees, in particular those associated with cognition, management and welfare in captivity.

Il existe peu d'information à propos des capacités cognitives des lamantins et comment elles peuvent permettre d'améliorer le bien-être de ces animaux en captivité. Notre étude analyse comment la présence de nouveaux stimuli et leur association avec de la nourriture peut changer le comportement d'un lamantin antillais nommé Daniel. Premièrement Daniel a été observé en absence de stimuli puis ensuite en présence de quatre formes géométriques différentes. Dans un troisième temps Daniel fût entrainé à manger en association avec une forme, le carré. Dans un quatrième temps, les quatre formes lui sont proposées mais sans nourriture associée. Les comportements différents et les interactions du lamantin avec le carré augmentent considérablement après cet aprentissage. L'expèrience est retentée 3 mois et 12 mois plus tard, sans renforcement, et Daniel continue de choisir le carré avec des comportements particuliers liés à cette forme. Cette étude permet de montrer de manière formelle la capacité des lamantins à associer la possibilité de nourriture avec des formes visuelles, et aussi la possibilité d'augmenter son activité avec des dispositifs environnementaux et occupationnels. Ces résultats offrent de nouvelles perspectives pour l'étude du comportement des lamantins, en particulier liées à la cognition, à leur gestion et à leur bien-être en captivité.

The scientific production of medical students in Lima, Peru.

BACKGROUND: Research is an important undergraduate competence for physicians. However, few studies have assessed the scientific production of medical students in Latin-America. Thus, this study had the objective to assess the rate and characteristics of research publications by undergraduate medical students in 2016, in Lima, Peru. METHODS: This cross-sectional study included all the students of the eight medical schools in Lima (Peru). The medical students included were collected from the registry of the National Medical Examination (taken during their last year of undergraduate studies) in 2016. To evaluate their research publications, systematic searches were performed in Google Scholar and PubMed during August 2018. RESULTS: We studied data from 1241 medical students (54.2% females) from eight medical schools. 173 (13.9%) students published at least one paper, 102 (8.2%) published at least one original paper, and 30 (2.4%) published at least one original paper in PubMed-Indexed journals. We registered a total of 174 papers authored by medical students, of which 98 (56.3%) were published in Peruvian journals, 128 (73.6%) were published in Spanish, 90 (51.7%) had a medical student as the first author, and 43 (24.7%) had a medical student as the corresponding author. The percentage of students with at least one publication was very heterogeneous across the eight medical schools evaluated (63.6%, 21.4%, 16.8%, 15.1%, 8.2%, 2.0%, 1.9%, and 0.0%). CONCLUSION: Among medical students in Lima, one out of seven had published at least one paper, one out of 12 had published at least one original paper, and one out of 40 had published at least one original paper in PubMed-Indexed journals. Scientific production was very heterogeneous across medical schools.

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.

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.

Oligodoncia no sindrómica: presentación de caso / Non syndromic Oligodontia: a case report

Fundamento: las anomalías dentales de número y forma pueden verse tanto en la dentición temporal como en la permanente. La evidencia documental de esta condición está muy limitada en la literatura y la causa es muy discutida. Objetivo: describir un caso clínico atípico de oligodoncia sin asociación de condición sistémica o síndromes. Caso clínico: paciente femenina de 12 años de edad, que al examen clínico se observa ausencia generalizada de dientes permanentes. El padre presenta también falta de dientes, los cuales no habían sido extraídos con anterioridad, por lo que se trata de un caso congénito. Al examen radiológico se comprueba la presencia de seis dientes temporales y solo seis permanentes. Conclusiones: las evidencias de individuos con desórdenes dentales raros contribuyen al establecimiento de varias herramientas diagnósticas y por ende, se definen las necesidades del tratamiento.

Background: dental anomalies of number and shape can be in both temporary and permanent dentition. Evidence of this condition is very limited in literature and the etiology is controversial. Objective: to describe an atypical clinical case of oligodontia with no association of systemic condition or syndromes. Clinical case: a twelve-year-old female patient who presented a general lack of permanent teeth when she was examined. Her father also has missing teeth, which had not been previously removed; therefore it is a congenital case. The radiological examination showed the presence of six deciduous teeth and only six permanent. Conclusions: evidence in individuals with rare dental disorders contributes to the establishment of various diagnostic tools and consequently treatment needs are defined.

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.

Características de la residencia médica en sedes docentes de Lima, Perú / Characteristics of the medical residence of teaching hospitals in Lima, Peru

Introducción: la residencia médica es un sistema formativo cuya principal finalidad es educar al médico, brindándole las herramientas necesarias para un óptimo proceso de formación durante su especialización. Objetivo: identificar las características del residentado médico en tres sedes docentes de Lima, Perú. Métodos: se realizó un estudio descriptivo transversal en tres sedes docentes de Lima, durante el mes de marzo de 2015. A los médicos residentes de cada sede se les aplicó una encuesta estructurada en tres secciones: datos generales, características laborales y características académicas de su programa de residentado. Resultados: la edad promedio fue 29,4 ± 3,4 y el 31 por ciento fue de sexo masculino. Solo el 57,1 por ciento refirió que le tomaron exámenes ocupacionales y la mayoría de los residentes no recibía alimentación en sus sedes. El 74,3 por ciento y 7,1 por ciento de los residentes indicó recibir capacitación en metodología de la investigación y salud ocupacional, de manera respectiva, pero en su mayoría no fueron calificadas como buenas. Conclusiones: existen ciertos déficits en el actual proceso de formación de los médicos residentes, sobre todo en aspectos relacionados a la prevención de riesgos ocupacionales, condiciones laborales y de infraestructura, y la promoción de la investigación(AU)

Introduction: The medical residency is an educational system whose main purpose is to educate the physician, providing the necessary tools for an optimal training process during their specialization. Objective: To identify the characteristics of medical residency in three teaching centers in Lima, Peru. Methods: We conducted a cross sectional descriptive study in three teaching centers in Lima during March 2015. A structured survey was applied in medical residents. The survey had three sections: General data, job characteristics and academic characteristics of their medical residency. Results: The mean age was 29.4 ± 3.4 and 31 percent were male. Occupational examinations were only taken in 57.1 pecent and most residents did not receive food in their centers. The 74.3 percent and 7.1 percent of residents reported receiving training in research methodology and occupational health respectively. However, both trainings were not rated as good by most of them. Conclusion: There are certain gaps in the ongoing training of medical residents, mainly on issues related to the prevention of occupational risks, working and infrastructure conditions, and research promotion(AU)

Siringoma condroide en el labio superior: reporte de un caso / Chondroid syringoma of the upper lip: report of a case

Paciente masculino de 81 años de edad que acudió a consulta con un cirujano dentista por presentar una lesión nodular, asintomática, firme y móvil en el labio superior del lado derecho. El sujeto refi rió tener la lesión desde la infancia, pero notó crecimiento lento en el último año. El diagnóstico clínico indicaba un adenoma pleomorfo, por lo que el individuo se sometió a biopsia escisional bajo anestesia local. El espécimen se envió a estudio histopatológico. La evolución del paciente fue satisfactoria, sin reincidencia de la lesión. El examen microscópico reveló la presencia de una neoplasia bien delimitada constituida pormúltiples estructuras ductales pequeñas en la dermis. Estos ductos se encontraban revestidos por dos hileras de células epiteliales planas y contenían cantidades variables de material amorfo en la luz. El estroma presentaba diferenciación condroide.

An 81-year-old male patient consulted a dental surgeon due to his presenting a fi rm, mobile, asymptomatic nodular lesion on the upper lip. The patient stated that he had had the mass since childhood but that it had grown slowly over the course of the previous year. The clinical diagnosis was pleomorphic adenoma, for which reason the patient underwent an excisional biopsy under local anesthesia. The specimen was sent for histopathological examination. The patient’s progress was satisfactory and there was no recurrence of the lesion. Micro-scopic examination revealed the presence of a well-defi ned neoplasm consisting of multiple small ductal structures located in the dermis. These ducts were lined with two rows of fl attened epithelial cells and contained varying amounts of amorphous material in the lumen. The stroma exhibited chondroid differentiation.

Características sistémicas y orales de la nefrolitiasis bilateral y asma en niños / Características sistêmicas e orais da nefrolitíase bilateral e asma nas crianças / Oral and systemic features of asthma and bilateral nephrolithiasis in child

Introducción. La nefrolitiasis es una enfermedad caracterizada por la formación de cálculos en el riñón, de gran incidencia y alta recurrencia, considerada rara en niños. Cuando no se trata evoluciona con altos índices de complicaciones. El asma es una enfermedad crónica inflamatoria de las vías respiratorias y ocasiona una importante morbilidad y mortalidad. Metodología: Se informa del caso de una niña de 4 años diagnosticada con nefrolitiasis bilateral y asma, referida para atención odontológica. Se incluye: Revisión bibliográfica de las patologías base, metodología clínica utilizada en el estado de salud general y oral, pre y post tratamiento dental. Conclusiones: En concordancia con lo descrito por diversos autores, los niños con nefrolitiasis bilateral y asma tienen un mayor índice de caries, higiene oral deficiente, una alta susceptibilidad a otras infecciones como candidiasis y a menudo exhiben defectos del esmalte, mucosas cianóticas, malposición dental y xerostomía. La prevención primaria es decisiva, una higiene dental apropiada, revisiones odontológicas habituales, así como el uso de broncodilatadores constituyen elementos significativos sobre todo en pacientes de alto riego.

Introdução. A nefrolitíase é uma doença caracterizada pela formação de pedras no rim, alta incidência e alta recorrência, considerada rara em crianças. Quando não se trata pode evoluir com altas taxas de complicações. A asma é uma doença inflamatória crônica das vias aéreas e causas de mortalidade e morbidade significativa. Metodologia: É relatado o caso de uma menina de 4 anos diagnosticada com asma e nefrolitíase bilateral, encaminhados para atendimento odontológico. Este relato compreende: revisão da literatura sobre as patologías de base metodología clínica utilizadas no controle, estado de saúde geral e oral, pré e pós tratamento dentário. Conclusões: Em conformidade com o descrito por vários autores, crianças com asma e nefrolitíase bilateral têm uma maior taxa de dente cárie, má higiene oral, uma alta suscetibilidade a outras infecções, como candidíase e muitas vezes apresentam defeitos de esmalte, desregulação da mucosa, dental cianótica e xerostomia. Prevenção primária é fundamental, uma boa higiene dental, dentais comentários comuns, bem como o uso de broncodilatadores é elementos significativos em pacientes de alto risco.

Introduction. Nephrolithiasis is a disease characterized by the formation of stones in the kidney, with high incidence and recurrence, considered rare in children. When left untreated it evolves with high rates of complications. Asthma is a chronic inflammatory disease of the airways and causes significant morbidity and mortality. Methodology: The case of a 4-year-old girl diagnosed with asthma and bilateral nephrolithiasis, referred for dental care is reported. Literature review of base illmesses and clinical methodology used for general and oral health status oral pre and post dental treatment are included. Conclusions: In accordance that described by various authors, children with bilateral nephrolithiasis and asthma have a higher rate of tooth decay, poor oral hygiene, a high susceptibility to other infections such as candidiasis and often exhibit enamel defects, cyanotic mucosa, dental malposition and xerostomia. Primary prevention is crucial, a proper dental hygiene, dental consecutive as well as the use of bronchodilators are significant elements in high risk patients.

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.

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.

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...

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.